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Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,840 newborn patients admitted for various medical conditions at the Children's Hospital of Chongqing Medical University from January 2017 and December 2022. Liquid chromatography-tandem mass spectrometry (LC-MS/MS), gas chromatography-mass spectrometry (GC-MS/MS), and genetic analysis were used to elucidate the disease spectrum, incidence rate, and genetic characteristics of IEMs in hospitalized newborns. The results revealed that the incidence of IEMs in hospitalized newborns was 1/377 (58/21,840), with a higher incidence in full-term infants (1/428) than in premature infants (1/3,120). Among the diagnosed genetic metabolic diseases, organic acid metabolism disorders (1/662), amino acid metabolism disorders (1/950), and fatty acid oxidation disorders (1/10,920) were the most prevalent. Methylmalonic acidemia (MMA), especially the isolated form, emerged as the most common IEM, while neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and ornithine transcarbamylase deficiency (OTCD) were prevalent in premature infants. Of the 58 confirmed cases of IEMs, 72 variants were identified, of which 31.94% (23/72) had not been reported previously. This study contributes to understanding the incidence and clinical features of IEMs in hospitalized newborns, offering more efficient strategies for screening and diagnosing these disorders. [ABSTRACT FROM AUTHOR]

BACKGROUND: Klebsiellaozaenae (K. ozaenae), a forgotten pathogen that normally colonizes the upper respiratory mucosa, can be associated with severe and invasive infections. The objectives of this study were to determine the frequency of isolation of K. ozaenae at the microbiology laboratory in a tertiary hospital and the scope of diseases associated with it and to characterize its antimicrobial susceptibility pattern. MATERIALS AND METHODS: This cross-sectional study analyzed the retrospective data, from 2002 to 2021, on cases with laboratory-confirmed isolation of K. ozaenae at a tertiary care hospital. The primary outcome was to identify the scope of K. ozaenae infections and their antimicrobial susceptibility patterns. K. ozaenae isolation was done by cultivation on microbiological culture media, whereas its identification and antimicrobial susceptibility pattern were performed using either Microscan or Vitek automated systems. Data was gathered and analyzed in Excel. The percentage of resistance was calculated as the number of resistant isolates from the total isolates multiplied by 100. Similarly, the percentage of sensitivity was calculated as the number of sensitive isolates from total isolates multiplied by 100. RESULTS: K. ozaenae was detected in 59 cases during the study period. K. ozaenae was associated with urinary tract infections (39%), nasal infections (18.6%), other respiratory tract infections including sinusitis, bronchiectasis, and pneumonia (16.9%), and wound infections (15.3%). It was also associated with invasive infections such as bacteremia (3.4%) and abscesses (3.4%). K. ozaenae showed susceptibility to multiple antibiotic classes, but was resistant to ampicillin, piperacillin, nalidixic acid, and nitrofurantoin. K. ozaenae isolates from urinary tract infections had higher antibiotic resistance percentage than isolates from other infections, particularly to amoxicillin/clavulanic acid (P = 0.007, 95% confidence interval [CI]: 1.84–375), ciprofloxacin (P < 0.0001, 95% CI: 4.6–111.2), and trimethoprim/sulfamethoxazole (P < 0.001, 95% CI: 3.1–63.6). CONCLUSION: Our data show that K. ozaenae is a pathogen with a spectrum of diseases wider than expected and a unique antibiotic susceptibility pattern in urinary tract infections.

BACKGROUND: Klebsiella ozaenae (K. ozaenae), a forgotten pathogen that normally colonizes the upper respiratory mucosa, can be associated with severe and invasive infections. The objectives of this study were to determine the frequency of isolation of K. ozaenae at the microbiology laboratory in a tertiary hospital and the scope of diseases associated with it and to characterize its antimicrobial susceptibility pattern. MATERIALS AND METHODS: This cross-sectional study analyzed the retrospective data, from 2002 to 2021, on cases with laboratory-confirmed isolation of K. ozaenae at a tertiary care hospital. The primary outcome was to identify the scope of K. ozaenae infections and their antimicrobial susceptibility patterns. K. ozaenae isolation was done by cultivation on microbiological culture media, whereas its identification and antimicrobial susceptibility pattern were performed using either Microscan or Vitek automated systems. Data was gathered and analyzed in Excel. The percentage of resistance was calculated as the number of resistant isolates from the total isolates multiplied by 100. Similarly, the percentage of sensitivity was calculated as the number of sensitive isolates from total isolates multiplied by 100. RESULTS: K. ozaenae was detected in 59 cases during the study period. K. ozaenae was associated with urinary tract infections (39%), nasal infections (18.6%), other respiratory tract infections including sinusitis, bronchiectasis, and pneumonia (16.9%), and wound infections (15.3%). It was also associated with invasive infections such as bacteremia (3.4%) and abscesses (3.4%). K. ozaenae showed susceptibility to multiple antibiotic classes, but was resistant to ampicillin, piperacillin, nalidixic acid, and nitrofurantoin. K. ozaenae isolates from urinary tract infections had higher antibiotic resistance percentage than isolates from other infections, particularly to amoxicillin/clavulanic acid (P = 0.007, 95% confidence interval [CI]: 1.84-375), ciprofloxacin (P < 0.0001, 95% CI: 4.6-111.2), and trimethoprim/sulfamethoxazole (P < 0.001, 95% CI: 3.1-63.6). CONCLUSION: Our data show that K. ozaenae is a pathogen with a spectrum of diseases wider than expected and a unique antibiotic susceptibility pattern in urinary tract infections. [ABSTRACT FROM AUTHOR]

Abstract Background The number and proportion of the elderly population have been continuously increasing in China, leading to the elevated prevalence of chronic diseases and multimorbidity, which ultimately brings heavy burden to society and families. Meanwhile, the status of multimorbidity tends to be more complex in elderly inpatients than community population. In view of the above concerns, this study was designed to investigate the health status of elderly inpatients by analyzing clinical data in Chinese People's Liberation Army (PLA) General Hospital from 2008 to 2019, including the constitution of common diseases, comorbidities, the status of multimorbidity, in-hospital death and polypharmacy among elderly inpatients, so as to better understand the diseases spectrum and multimorbidity of elderly inpatients and also to provide supporting evidence for targeted management of chronic diseases in the elderly. Methods A clinical inpatients database was set up by collecting medical records of elderly inpatients from 2008 to 2019 in Chinese PLA General Hospital, focusing on diseases spectrum and characteristics of elderly inpatients. In this study, we collected data of inpatients aged ≥ 65 years old, and further analyzed the constitution of diseases, multimorbidity rates and mortality causes in the past decade. In addition, the prescriptions were also analyzed to investigate the status of polypharmacy in elderly inpatients. Results A total of 210,169 elderly patients were hospitalized from January 1st, 2008 to December 31st, 2019. The corresponding number of hospitalizations was 290,833. The average age of the study population was 72.67 years old. Of the total population, 73,493 elderly patients were re-admitted within one year, with the re-hospitalization rate of 25.27%. Malignant tumor, hypertension, ischemic heart disease, diabetes mellitus and cerebrovascular disease were the top 5 diseases. Among the study population, the number of patients with two or more long-term health conditions was 267,259, accounting for 91.89%, with an average of 4.68 diseases. In addition, the average number of medications taken by the study population was 5.4, among which, the proportion of patients taking more than 5 types of medications accounted for 55.42%. Conclusions By analyzing the constitution of diseases and multimorbidity, we found that multimorbidity has turned out to be a prominent problem in elderly inpatients, greatly affecting the process of healthy aging and increasing the burden on families and society. Therefore, multidisciplinary treatment should be strengthened to make reasonable preventive and therapeutic strategies to improve the life quality of the elderly. Meanwhile, more attention should be paid to reasonable medications for elderly patients with multimorbidity to avoid preventable side effects caused by irrational medication therapy.

Yongsheng Sun,1 ChengJiang Liu,2 Nianping Zhang,3 Debing Yang,4 Cungen Ma,5 Xi Zhang61Department of Neurology and Psychiatry, Medical College of Shanxi Datong University, Datong, 037009, People’s Republic of China; 2Department of General Medicine, Affiliated Anqing First People’s Hospital of Anhui Medical University, Anhui, 246000, People’s Republic of China; 3Department of Internal Medicine, Medical College of Shanxi Datong University, Datong, 037009, People’s Republic of China; 4Department of Anatomy, Medical College of Shanxi Datong University, Datong, 037009, People’s Republic of China; 5Neurobiology Research Center, Shanxi University of Traditional Chinese Medicine, Jinzhong, 030619, People’s Republic of China; 6Department of Neurology, Second Medical Center, General Hospital of the Chinese People’s Liberation Army, Beijing, 100000, People’s Republic of ChinaCorrespondence: Cungen Ma; Xi Zhang, Email macungen2001@163.com; zhangxiplagh@sina.comObjective: The common chronic non-communicable diseases and epidemiological characteristics of the forsaken elders over 60 in Guangling and Tianzhen were investigated and analyzed to provide reference for health resource allocation, hospital capacity establishing and health management of the forsaken elders in county-level regions.Materials and Methods: The data of 10,331 resident elderly over 60 in Guangling and Tianzhen of Datong Civil Affairs Bureau in the management system for disabled and semi-disabled elderly was collected. The gender, age, main diagnosis and coding of diseases, common chronic non-communicable diseases, and system diseases of the respondents were retrospectively analyzed.Results: The prevalence of the forsaken elders aged over 60 in Guangling and Tianzhen were different. Hypertension, arthritis, type 2 diabetes, hyperlipidemia and cerebral infarction are the top five common chronic non infectious diseases in Guangling, Tianzhen and the two counties. Among the top five common diseases in Guangling, Tianzhen and the two counties, arthritis or rheumatism, hypertension, diabetes or elevated blood sugar were found, which were different in the 60– 65, 66– 70, 71– 75 and 76– 80 groups, with the prevalence increasing with age. The top five diseases in Guangling, Tianzhen and the two counties were consistent, while the ranking changed slightly. The proportion of circulatory diseases, musculoskeletal diseases, connective tissue diseases and endocrine/nutritional and metabolic diseases in 60– 65, 66– 70 and 71– 75 groups increased with age, and was much higher than that in other groups.Conclusion: The prevalence and disease spectrum order of common chronic non-communicable diseases and systemic diseases in Guangling and Tianzhen are diverse, also in gender and age groups. As China’s county-level local administrative divisions have relatively independent administrative autonomy, medical and health resources can be better configured according to the information mined, accurately maintaining and promoting residents’ health. It is suggested to explore the disease management mechanism with county-level administrative divisions as database management units under the background of big data, so as to implement the interconnection and sharing of information among health-related departments in county-level regions.Keywords: chronic non-communicable diseases, system diseases, administrative division, disease spectrum, the forsaken elders

Background: The number and proportion of the elderly population have been continuously increasing in China, leading to the elevated prevalence of chronic diseases and multimorbidity, which ultimately brings heavy burden to society and families. Meanwhile, the status of multimorbidity tends to be more complex in elderly inpatients than community population. In view of the above concerns, this study was designed to investigate the health status of elderly inpatients by analyzing clinical data in Chinese People's Liberation Army (PLA) General Hospital from 2008 to 2019, including the constitution of common diseases, comorbidities, the status of multimorbidity, in-hospital death and polypharmacy among elderly inpatients, so as to better understand the diseases spectrum and multimorbidity of elderly inpatients and also to provide supporting evidence for targeted management of chronic diseases in the elderly. Methods: A clinical inpatients database was set up by collecting medical records of elderly inpatients from 2008 to 2019 in Chinese PLA General Hospital, focusing on diseases spectrum and characteristics of elderly inpatients. In this study, we collected data of inpatients aged ≥ 65 years old, and further analyzed the constitution of diseases, multimorbidity rates and mortality causes in the past decade. In addition, the prescriptions were also analyzed to investigate the status of polypharmacy in elderly inpatients. Results: A total of 210,169 elderly patients were hospitalized from January 1st, 2008 to December 31st, 2019. The corresponding number of hospitalizations was 290,833. The average age of the study population was 72.67 years old. Of the total population, 73,493 elderly patients were re-admitted within one year, with the re-hospitalization rate of 25.27%. Malignant tumor, hypertension, ischemic heart disease, diabetes mellitus and cerebrovascular disease were the top 5 diseases. Among the study population, the number of patients with two or more long-term health conditions was 267,259, accounting for 91.89%, with an average of 4.68 diseases. In addition, the average number of medications taken by the study population was 5.4, among which, the proportion of patients taking more than 5 types of medications accounted for 55.42%. Conclusions: By analyzing the constitution of diseases and multimorbidity, we found that multimorbidity has turned out to be a prominent problem in elderly inpatients, greatly affecting the process of healthy aging and increasing the burden on families and society. Therefore, multidisciplinary treatment should be strengthened to make reasonable preventive and therapeutic strategies to improve the life quality of the elderly. Meanwhile, more attention should be paid to reasonable medications for elderly patients with multimorbidity to avoid preventable side effects caused by irrational medication therapy. [ABSTRACT FROM AUTHOR]

Background and Aims: Neonatal diseases are a significant threat to global public health, affecting the homeostasis and well‐being of patients and reflecting the status of, and challenges to, regional, national, and global healthcare systems. This study sought to investigate how the disease spectrum observed among neonatal inpatients changed after the onset of the coronavirus disease 2019 (COVID‐19) pandemic. Methods: The present hospital‐based retrospective study analyzed the demographic and clinical characteristics of 19,943 hospitalized newborns from January 2018 to December 2022 using data derived from pediatric department registers. Results: According to the International Classification of Diseases 11th Revision (ICD‐11) classification criteria, the two most common neonatal disorders during this study period were "Certain conditions originating in the perinatal period" and "Disease of the respiratory system." Following the start of the COVID‐19 pandemic (2020 onwards), the number of neonatal patients declined markedly (5742 per year vs. 2820 per year), and the incidence of "Disease of the respiratory system" was significantly lower than in 2018–2019 (25.72% vs. 17.46%). Conclusion: The study offers detailed insights into the shifts in neonatal disease patterns at the Seventh Medical Center of the PLA General Hospital following the onset of the COVID‐19 pandemic, providing a foundation for future research and policymaking efforts. Key messages: The disease spectrum observed among neonatal inpatients has changed markedly after the onset of the coronavirus disease 2019 (COVID‐19) pandemic. The study also analyzed changes in the disease spectrum among neonatal inpatients before and after lifting COVID‐19 lockdown measures. The epidemiological characterization of neonatal diseases can enhance understanding of their pathophysiological basis and aid in identifying disease‐related risk factors among professionals. These findings offer a valuable foundation for formulating health policies. [ABSTRACT FROM AUTHOR]

BackgroundTuberculous meningitis (TBM) is the most severe form of tuberculosis (TB) and can be difficult to diagnose and treat. We aimed to describe the clinical presentation, diagnosis, disease spectrum, outcome, and prognostic factors of patients treated for TBM in China.MethodsA multicenter retrospective study was conducted from 2009 to 2019 enrolling all presumptive TBM patients referred to Xijing tertiary Hospital from 27 referral centers in and around Shaanxi province, China. Patients with clinical features suggestive of TBM (abnormal CSF parameters) were included in the study if they had adequate baseline information to be classified as “confirmed,” “probable,” or “possible” TBM according to international consensus TBM criteria and remained in follow-up. Patients with a confirmed alternative diagnosis or severe immune compromise were excluded. Clinical presentation, central nervous system imaging, cerebrospinal fluid (CSF) results, TBM score, and outcome—assessed using the modified Barthel disability index—were recorded and compared.FindingsA total of 341 presumptive TBM patients met selection criteria; 63 confirmed TBM (25 culture positive, 42 Xpert-MTB/RIF positive), 66 probable TBM, 163 possible TBM, and 49 “not TBM.” Death was associated with BMRC grade III (OR = 5.172; 95%CI: 2.298–11.641), TBM score ≥ 15 (OR = 3.843; 95%CI: 1.372–10.761), age > 60 years (OR = 3.566; 95%CI: 1.022–12.442), and CSF neutrophil ratio ≥ 25% (OR = 2.298; 95%CI: 1.027–5.139). Among those with confirmed TBM, nearly one-third (17/63, 27.0%) had a TBM score 60 years) have higher TBM scores or CSF neutrophil ratios, have signs of disseminated/miliary TB, and are at greatest risk of death. In general, more effort needs to be done to improve early diagnosis and treatment outcome in TBM patients.

ABSTRACTMycoplasma pneumoniae (MP) is commonly detected in children. However, the epidemiological trends of MP in Northeast (NE) China are unclear. This retrospective study aimed to investigate the prevalence of MP infections in this understudied region. The clinical manifestations and bronchoscopic findings observed in hospitalized patients with severe Mycoplasma pneumoniae pneumonia (SMPP) were collected from comprehensive data obtained from six tertiary hospitals in NE and Inner Mongolian (IM) China, from 1 January 2017 to 31 December 2023. A total of 5,593,530 children who visited the outpatient and emergency departments, and 412,480 inpatient hospitalized children were included in the study. The positivity rate of MP immunoglobulin M (IgM) in the children who visited the outpatient and emergency departments varied from 7.80% to 10.12%, whereas that of MP infection in hospitalized children ranged from 27.18% to 30.10%. Children hospitalized for MP infection were mainly concentrated in the 1- to 4-year (41.39%) and 4- to 7-year (24.25%) age groups. Before 2020, the season with the highest incidence of MP was winter. After the implementation of non-pharmaceutical interventions (NPIs), the MP epidemic season changed, and the number of children with MP infections decreased; however, the proportion of MP infections in hospitalized children did not change significantly. Starting from August 2023, the MP infection rate in outpatient, emergency, and hospitalized children increased sharply, with SMPP and its complications (e.g., plastic bronchitis and pleural effusion) increasing significantly. MP is prevalent in NE and IM, China. When the NPIs ended, MP infection showed a delayed outbreak trend, and the number of children with severe infection increased significantly.IMPORTANCEIn Northeastern (NE) and Inner Mongolia (IM), the incidence of Mycoplasma pneumoniae (MP) infections, including severe Mycoplasma pneumoniae pneumonia (SMPP), is high, posing health risks and imposing substantial economic burdens on the local population. Therefore, it is imperative to prioritize the study of MP prevalence and address the research gaps in MP epidemiology in these areas of China. We obtained a comprehensive collection of pediatric outpatient, emergency, and inpatient data from six public Grade III hospitals. We believe that our study makes a significant contribution to the literature because understanding regional variations in MP infections can help healthcare professionals tailor prevention and treatment strategies, and studying bronchoscopic manifestations can provide insights into the impact of the disease on the respiratory system, potentially leading to a more effective clinical management.

BackgroundThere are few reports of infantile mitochondrial DNA depletion syndrome (MDDS) caused by variants in RRM2B and the correlation between genotype and phenotype has rarely been analyzed in detail. This study investigated an infantile patient with MDDS, from clinical characteristics to genetic causes.MethodsRoutine physical examinations, laboratory assays, which included gas chromatography–mass spectrometry of blood and urine, and MRI scans were performed to obtain an exact diagnosis. Whole-exome sequencing was used to pinpoint the abnormal gene and bioinformatic analyses were performed on the identified variant.ResultsThe case presented with progressive neurologic deterioration, failure to thrive, respiratory distress and lactic acidosis. Sequencing revealed that the patient had a homozygous novel missense variant, c.155T>C (p.Ile52Thr), in exon 2 of the RRM2B gene. Multiple lines of bioinformatic evidence suggested that this was a likely detrimental variant. In addition, reported RRM2B variants were compiled from the relevant literature to analyze disease etiology. We found a distinctive distribution of genotypes across disease manifestations of different severity. Pathogenic alleles of RRM2B were significantly enriched in MDDS cases.ConclusionThe novel variant is a likely genetic cause of MDDS. It expands our understanding of the pathogenic variant spectrum and the contribution of the RRM2B gene to the disease spectrum of MDDS.

ObjectiveThis study aims to compare the changes in the disease spectrum of children admitted to the Pediatric Intensive Care Units (PICU) during the COVID-19 pandemic with the three years prior to the pandemic, exploring the impact of the COVID-19 pandemic on the disease spectrum of PICU patients.MethodsA retrospective analysis was conducted on critically ill children admitted to the PICU of Hunan Children's Hospital from January 2020 to December 2022, and the results were compared with cases from the same period between January 2017 and December 2019. The cases were divided into pre-pandemic period (January 2017–December 2019) with 8,218 cases, and pandemic period (January 2020–December 2022) with 5,619 cases. General characteristics, age, and gender were compared between the two groups.ResultsCompared to the pre-pandemic period, there was a 31.62% decrease in the number of admitted children during the pandemic period, and a 52.78% reduction in the proportion of respiratory system diseases. The overall mortality rate decreased by 87.81%. There were differences in age and gender distribution between the two periods. The length of hospital stay during the pandemic showed no statistical significance, whereas hospitalization costs exhibited statistical significance.ConclusionThe COVID-19 pandemic has exerted a certain influence on the disease spectrum of PICU admissions. Implementing relevant measures during the pandemic can help reduce the occurrence of respiratory system diseases in children. Considering the changes in the disease spectrum of critically ill PICU children, future clinical prevention and treatment in PICUs should continue to prioritize the respiratory, neurological, and hematological oncology systems.

Background The difficulty of getting pediatric services still exists in China. It is a general trend that community health centers (CHCs) provide pediatric services. There are rare studies on the spectrum of pediatric illnesses in CHCs. Objective To understand the current status of pediatric diagnosis and treatment in Shenzhen's CHCs by analyzing the spectrum of pediatric illnesses treated in clinics, and to analyze the gap between actual practical status with the training contents based on Spectrum of Diseases for Resident Rotation in Pediatric Medicine (hereinafter referred to as Pediatric Training Rules) specified in General Residency Training Rules in the Standardized Training Contents and Standards for Residents (2022 Edition) . Methods Through checking the outpatient medical records in CHCs in Shenzhen's 10 districts during April to September 2021, pediatric care expenditure data of children〔including babies (

Objective To analyze the disease spectrum and epidemiological characteristics of pre-hospital emergency care and provide guidance for improving the level of pre-hospital emergency treatment. Methods The clinical data of 2 448 patients who received pre-hospital emergency treatment from April 1, 2021 to March 31, 2022 in this hospital were collected. The time of pre-hospital emergency, gender, age, and disease diagnosis of patients were analyzed retrospectively. Results Among 2 935 cases of pre-hospital emergency treatment, 2 448 cases were effective, with an effective rate of 83. 41%. The number of pre-hospital emergency cases was the highest from 18:00 to 19:59 every day [11. 40% (279/2 448) ], the number of home visits was the highest in October [10. 17% (249/2 448) ], and the number of home visits was the highest in autumn [29. 67% (726/2 448) ]. The ratio of male to female in pre-hospital emergency patients was 1. 56∶1. 00, and the average age was (40. 40±21. 17) years old, mainly concentrated in 15-＜ 60 years old [74. 67% (1 828/2 448)]. There were more males than females in all age groups. The first four diseases were trauma, nervous system disease, respiratory system disease, and circulatory system disease. Conclusion Trauma accounted for the largest proportion of pre-hospital emergency patients, especially young and middle-aged males. According to the peak period of pre-hospital emergency treatment and the distribution characteristics of the first four diseases, the professional knowledge training of pre-hospital medical staff should be strengthened, and the public′s education and prevention of diseases should be strengthened, so as to achieve the purpose of rational allocation of first-aid resources. [ABSTRACT FROM AUTHOR]

Abstract Background and Aims Neonatal diseases are a significant threat to global public health, affecting the homeostasis and well‐being of patients and reflecting the status of, and challenges to, regional, national, and global healthcare systems. This study sought to investigate how the disease spectrum observed among neonatal inpatients changed after the onset of the coronavirus disease 2019 (COVID‐19) pandemic. Methods The present hospital‐based retrospective study analyzed the demographic and clinical characteristics of 19,943 hospitalized newborns from January 2018 to December 2022 using data derived from pediatric department registers. Results According to the International Classification of Diseases 11th Revision (ICD‐11) classification criteria, the two most common neonatal disorders during this study period were “Certain conditions originating in the perinatal period” and “Disease of the respiratory system.” Following the start of the COVID‐19 pandemic (2020 onwards), the number of neonatal patients declined markedly (5742 per year vs. 2820 per year), and the incidence of “Disease of the respiratory system” was significantly lower than in 2018–2019 (25.72% vs. 17.46%). Conclusion The study offers detailed insights into the shifts in neonatal disease patterns at the Seventh Medical Center of the PLA General Hospital following the onset of the COVID‐19 pandemic, providing a foundation for future research and policymaking efforts.

Background The development of traditional Chinese medicine (TCM) has been listed as a national development strategy with vigorous improvement of TCM service capacity in primary care institutions as the important elements, however, there are few studies on the disease spectrum of TCM in community health service institutions. Objective To analysis the TCM disease spectrum in outpatient clinics of contracted residents by family doctors in Shenzhen community health service centers (abbreviated as CHSC) and understand the capability of TCM in Shenzhen health centers, thus providing a theoretical basis for promoting the development of TCM in primary care in China. Methods From May to June 2022, the records of outpatient consultations with treatment cost of 10 Shenzhen CHSCs from 2021-01-01 to 2021-06-30 were extracted by the unified information platform of the Health Commission of Shenzhen Municipality (Hangchuang Community Health Service Center Business System) . The 385 138 records with purpose of TCM treatment, matching diagnosis and treatment costs, first diagnosis can be coded in Classification and Codes of Diseases and ZHENG of Traditional Chinese Medicine (TCD) were collected. The disease spectrum was analyzed based on the classification of disease in TCD, mainly involving department categories, specialty system classifications, and TCM disease terms. Results A total of 385 138 records of TCM diagnosis and treatment were selected in this study, including 170 077 (44.16%) male cases and 215 061 (55.84%) female cases, with an average age of (36.7±9.4) years. All of the 7 TCD categories of disease spectrum were involved, including internal medicine accounting for 56.98% (219 445 cases) , pediatrics accounting for 20.56% (79 201 cases) , otolaryngology accounting for 12.45% (47 965 cases) , gynecology accounting for 7.95% (30 620 cases) , surgery accounting for 1.51% (5 797 cases) , orthopedics accounting for 0.37% (1 407 cases) and ophthalmology accounting for 0.18% (703 cases) . Apart from the specialty system classifications of tumor diseases, cancer diseases in each category, classifications of middle canthal disease, black eye disease, pupillary disease, traumatic eye disease in Ophthalmology, the disease spectrum involves all specialty system classifications in 7 categories. The cumulative diagnosis and treatment volume of several disease spectrums accounted for 90.00% of the total diagnosis and treatment in each category. The top 5 system diseases in the spectrum included respiratory system diseases accounting for 54.19% (208 701 cases) , musculoskeletal system diseases accounting for 19.05% (73 369 cases) , gynecological system diseases accounting for 7.95% (30 620 cases) , cardiovascular and cerebrovascular system diseases accounting for 7.15% (27 539 cases) , and the digestive system diseases accounting for 4.98% (19 162 cases) . Patients aged

AIM: To analyze the clinical and histopathological composition of orbital tumors and tumor-like lesions.METHODS: Retrospective case-series study. The clinical histopathological data of 699 cases(707 eyes)with orbital tumor and tumor-like lesions who treated in the orbital disease and ophthalmic plastic department of Tianjin Eye Hospital between January 2010 and December 2020 were collected. All the pathology diagnosis results were divided into three categories which were benign tumor, borderline tumor and malignant tumor according to the eighth edition of the American Joint Committee on Cancer staging system and the 2018 World Health Organization Classification of tumors of the eye. All cases were divided into four groups according to age, including 0～17 years old, 18～39 years old, 40～59 years old, 60 years and above. The histological composition of each group was analyzed.RESULTS: Among the 699 cases(707 eyes), 311 patients(316 eyes)were male and 388 patients(391 eyes)were female. The patient's age at diagnosis ranged from 1 to 84 years(mean 39.9±2.2)years. The right orbit was involved in 307 patients, the left orbit in 384 patients, and 8 patients in bilateral orbit. There were 598 patients(604 eyes, 85.6%)with benign tumor and tumor-like lesions, 7 patients(7 eyes, 1.0%)with borderline tumor, and 94 patients(96 eyes, 13.4%)with malignant tumors. The top 5 benign tumor and tumor-like lesions were cavernous hemangioma(110 cases, 15.7%), dermoid cysts(96 cases, 13.7%), pleomorphic adenomas(54 cases, 7.7%), inflammatory pseudotumors(38 cases, 5.4%), and schwannomas(29 cases, 4.1%)respectively. The top 5 borderline and malignant tumors were non-Hodgkin lymphomas(42 cases, 41.6%), solitary fibrous tumors(12 cases, 11.9%), adenoid cystic carcinomas(11 cases, 10.9%), metastatic tumor(9 cases, 8.9%), and rhabdomyosarcoma(8 cases, 7.9%), respectively. Among the common orbital benign tumors and tumor-like lesions, cavernous hemangioma and pleomorphic adenoma showed a female predominance. Among the common borderline and malignant tumors, non-Hodgkin lymphoma and mesenchymal chondrosarcoma showed a male predominance. The most common benign and malignant tumors were dermoid cysts, rhabdomyosarcomas respectively in group under 18 years old. And dermoid cysts and solitary fibrous tumors were the most common benign and malignant tumors respectively in patients between 18 and 39 years old. Cavernous hemangioma and non-Hodgkin lymphomas were the most common benign and malignant tumors respectively in patients between 40 and 59 years old. While cavernous hemangioma and non-Hodgkin lymphomas were the most common benign and malignant tumors respectively in cases over 60 years old.CONCLUSION: Most orbital tumors and tumor-like lesions are benign. The most common benign orbital tumor is cavernous hemangioma, followed by dermoid cyst. Non-Hodgkin lymphoma is the most common malignant orbital tumor.

Objective To investigate the etiology, type, and composition of liver diseases and the changing trend of the composition ratio of different liver diseases among inpatients in Nanjing Second Hospital in the recent ten years. Methods A total of 65 185 inpatients with the primary diagnosis of liver disease were collected in Nanjing Second Hospital from January 2012 to December 2021. Statistical analyses were performed based on the causes and types of liver disease in different years, and composition ratios were calculated. The chi－square test was used for comparison of composition ratio between groups. Results A total of 65 185 patients with liver disease were enrolled, among whom there were 43 110 male patients and 22 075 female patients. Comparison between years showed that as for the type of liver disease, the proportion of patients with liver injury decreased from 55.94% to 46.98%( χ²=282.894, P<0.001). In terms of etiological distribution, viral hepatitis was still the main etiology, but its composition ratio decreased from 81.65% to 63.22% (χ²=433.919, P<0.001), and the composition ratio of hepatitis B decreased from 87.09% to 71.96% (χ²=655.893, P<0.001), while that of hepatitis C increased from 9.67% to 25.22% (χ²=858.840, P<0.001). The composition ratio of non－viral liver diseases tended to increase, such as drug-induced liver injury, alcoholic liver disease, nonalcoholic fatty liver disease, and autoimmune liver disease. Among the main causes of end－stage liver disease, autoimmune liver disease showed an increasing trend from 2.01% to 11.77% (χ²=459.726, P< 0.001), which should be taken seriously by clinicians. Conclusion There are changes in the composition of main etiologies among inpatients with liver disease in Nanjing Second Hospital in the recent ten years, with the main etiology of viral hepatitis, but its composition ratio tends to decrease, while the composition ratio of non－viral liver disease is gradually increasing. [ABSTRACT FROM AUTHOR]

Hydroa vacciniforme lymphoproliferative disorder (HV‐LPD) and severe mosquito bite allergy (SMBA) are both cutaneous forms of Epstein–Barr virus (EBV)‐associated T/natural killer (NK) cell LPDs and are closely related to chronic active EBV disease (CAEBV) and EBV‐associated hemophagocytic lymphohistiocytosis (EBV‐HLH). HV‐LPD is further divided into classic HV, a benign subtype mediated by EBV‐positive γδT cells, and systemic HV, another life‐threatening subtype mainly associated with EBV‐positive αβT or γδT cells. The vast majority of patients with SMBA have increased numbers of EBV‐infected NK cells in the blood. Clinical symptoms of HV‐LPD and SMBA often overlap in the same patient and may progress to more serious disease conditions equivalent to the systemic form of CAEBV. To define the disease spectrum of HV‐LPD and SMBA, we propose the diagnostic criteria and the determination criteria for disease severity. The proposed diagnostic criteria are consistent with those for CAEBV and EBV‐HLH in the guidelines for the management for CAEBV and related disorders 2023. [ABSTRACT FROM AUTHOR]

Background: Evidences suggest relationship between periodontitis and systemic diseases such as cardiovascular diseases, diabetes mellitus, adverse pregnancy outcome, osteoporosis and chronic kidney diseases. Except for acute toothache and complicated local infection, other dental problems are often considered trivial, hence dental health is often neglected or omitted in health related discourses. Aims and Objectives: (1) To assess the patient load in dental OPD compared to other outpatient departments and (2) examine the distribution of dental diseases among different age, gender and caste of dental patients in a tertiary care hospital over a 5 year period. Materials and Methods: A hospital based retrospective study was conducted using data from Medical Record department of all OPD attendees (1,174,605) during the period from January 2016 to December 2020 in the tertiary care hospital of Arunachal Pradesh. The total number of dental OPD patients (57,198) was compared with the total and department wise OPD attendees during the same period. Out of all Dental patients , data of 11,225 were found to be complet ( cross checked MRD record with OPD register) hence analysed for distribution of disease as per age/ sex/ ethnicity. Results: Emergency and Casualty department reported highest patient load, lowest in cardiology. Overall dental patient OPD load was highest in 2019 and lowest in 2020. Common dental problems were caries and its complications, root stamp/retained tooth, dental calculus, stain, and trauma related dental problems. Most of the trauma related cases were males, whereas other conditions like dental caries, root stamp, complication of caries, and dental calculus/stain were more common in females. Conclusion: Data shows that the number of dental patients among all OPD attendees is high and the dental problems they present with are diverse in nature. The treatment provisions available in most health care centres are largely inadequate. Inclusion of Oral and Dental health in Planning of community health programs, sensitisation of all health care providers the importance of interdepartmental consultation with dental department and education of the masses in oral and dental care/hygiene are of paramount importance.

AIM: To observe the changes of disease spectrum and characteristics of orbital disease distribution in orbital outpatients, introduce the procedures and methods of diagnosis and treatment of orbital diseases in our hospital and define the work focus and social needs in orbital disease. METHODS: Prospective observational study. A registration form was designed to record the gender, age and diagnosis of orbital outpatients in our treatment group. The orbital diseases were divided into seven categories for statistical analysis. The composition ratio, male to female ratio, age of onset, subtypes of dominant diseases and the top three common diseases were analyzed. This paper introduces the diagnosis and treatment process of the orbital disease specialty clinic of our hospital.RESULTS: A total of 1 059 patients with orbital diseases were registered from April 1 to December 31, 2021. The most common orbital diseases were thyroid-related ophthalmopathy(TAO)in 325 cases(30.7%), followed by orbital tumors in 282 cases(26.6%), orbital trauma in 213 cases(20.1%), orbital inflammation in 205 cases(19.4%). Orbital vascular malformation, congenital and genetic venereal diseases and other orbital diseases were 34 cases(3.2%). Pathological diagnosis: orbital tumors in 150 cases(72.8%)were benign, the first three benign tumors were hemolymphangioma, orbital cyst and neurogenic tumor. Orbital tumors in 56 cases were malignant(27.2%), the first three malignant tumors were orbital lymphoma, adenoid cystic carcinoma of the lacrimal gland and rhabdomyosarcoma. The most common orbital injury was orbital blowout fracture, followed by optic nerve injury and orbital soft tissue injury. Orbital non-infectious inflammation accounted for 89.8% and 10.2% with infectious inflammation.CONCLUSION: The spectrum of orbital diseases has changed, and the most common and dominant diseases are TAO, orbital tumor, orbital trauma and orbital inflammation, accounting for 96.8% of the total, which are the main work content in orbital profession. Medical resources of orbital diseases should be rationally allocated according to the changes of disease spectrum to meet the needs of social development.

Copyright of Journal of Modern Laboratory Medicine is the property of Journal of Modern Laboratory Medicine Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract Background With more emergency visits, there is increasing pressure to provide emergency medical services globally and locally. This study aimed to investigate the epidemiological characteristics and the disease spectrum of patients presenting in the last three years to the Department of Emergency Medicine of Tianjin Medical University General Hospital, a tertiary hospital in Tianjin, China, to improve the services of the emergency medicine department. Methods A retrospective study was conducted on all patients in the Department of Emergency Medicine of Tianjin Medical University General Hospital from Jan 1, 2017, 00:00:00 to Dec 31, 2020, 23:59:59, including variables like medical record number, gender, age, date of admission, principal diagnosis. The data were analyzed by SPSS statistical software; statistical charts were prepared by GraphPad Prism9.0 and SPSS 20.0; statistical tables were made by Microsoft Excel. Results A total of 1,314,916 patients presented to the Department of Emergency Medicine of Tianjin Medical University General Hospital from Jan 1, 2017, 00:00:00 to Dec 31, 2020, 23:59:59. In terms of gender distribution, the male–female ratio was 0.78∶1. As for age distribution, patients aged 60–69 were the most (23.47%), and patients younger than 20 years were the least (2.80%). Concerning monthly data, the number of visits peaked during January and December. The distribution of daily visits showed the feature of three highs and a low. The top three prevalence diseases in the emergency disease spectrum were respiratory, cardiovascular, and digestive diseases. The respiratory system was the most common in patients with infectious diseases (200,912, accounting for 86.97%). Among the patients suffering from infectious diseases, the number of patients with respiratory infections peaked in 2019 (73,530) and was the lowest in 2020 (20,078). Conclusions From 2017 to 2019, the demand for emergency services in Tianjin Medical University General Hospital continued to increase, but it was greatly affected by COVID-19 in 2020. This emergency department is mainly for patients with respiratory system, circulatory system and digestive system diseases, and its treatment time is relatively centralized. The prevention of diseases for people of all ages, especially female patients and the elderly, should be strengthened, and emergency medical resources should be allocated reasonably according to the peak months and crowed periods of patients.

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Evidences suggest relationship between periodontitis and systemic diseases such as cardiovascular diseases, diabetes mellitus, adverse pregnancy outcome, osteoporosis and chronic kidney diseases. Except for acute toothache and complicated local infection, other dental problems are often considered trivial, hence dental health is often neglected or omitted in health related discourses. Aims and Objectives: (1) To assess the patient load in dental OPD compared to other outpatient departments and (2) examine the distribution of dental diseases among different age, gender and caste of dental patients in a tertiary care hospital over a 5 year period. Materials and Methods: A hospital based retrospective study was conducted using data from Medical Record department of all OPD attendees (1,174,605) during the period from January 2016 to December 2020 in the tertiary care hospital of Arunachal Pradesh. The total number of dental OPD patients (57,198) was compared with the total and department wise OPD attendees during the same period. Out of all Dental patients, data of 11,225 were found to be complet (cross checked MRD record with OPD register) hence analysed for distribution of disease as per age/sex/ethnicity. Results: Emergency and Casualty department reported highest patient load, lowest in cardiology. Overall dental patient OPD load was highest in 2019 and lowest in 2020. Common dental problems were caries and its complications, root stamp/retained tooth, dental calculus, stain, and trauma related dental problems. Most of the trauma related cases were males, whereas other conditions like dental caries, root stamp, complication of caries, and dental calculus/stain were more common in females. Conclusion: Data shows that the number of dental patients among all OPD attendees is high and the dental problems they present with are diverse in nature. The treatment provisions available in most health care centres are largely inadequate. Inclusion of Oral and Dental health in Planning of community health programs, sensitisation of all health care providers the importance of interdepartmental consultation with dental department and education of the masses in oral and dental care/hygiene are of paramount importance. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

BackgroundSyncope is the primary cause of transient loss of consciousness, which causes severe physical and mental burdens to children and adolescents.ObjectiveThe study was designed to analyze the spectrum of underlying diseases of syncope and treatment options for neurally-mediated syncope (NMS) in Chinese children and adolescents.MethodsMedical records including history, physical examination, blood biochemistry, standing test, head-up tilt (HUTT), sitting-up test, electroencephalogram (EEG), electrocardiogram (ECG), and echocardiography were retrospectively studied in children and adolescents admitted to the National Pediatric Syncope Center, Department of Pediatrics, Peking University First Hospital between 1992 and 2021. All the data were collected from the Beijing Kaihua Medical Management System (Kaihua, Beijing, China). Children who met the syncope diagnostic criteria were enrolled in the study. The spectrum of the underlying diseases of syncope in children and adolescents and the treatment options of NMS were analyzed.ResultsA total of 1,947 children and adolescents with syncope were admitted, including 869 males (44.63%) and 1,078 females (55.37%) aged 1–18 years, with an average age of 11.1 ± 3.1 years. The number of children and adolescents with syncope displayed a gradually increasing trend between 1992 and 2021 except after 2020. NMS proportion increased, and the proportion of unexplained syncope decreased (χ2 = 128.839, P < 0.01). The treatment options of NMS mainly included autonomic nervous function exercise (549, 34.46%), oral rehydration salt (ORS; 445, 27.94%), metoprolol (219, 13.75%), midodrine (120, 7.53%), ORS plus metoprolol (139, 8.73%), ORS plus midodrine (120, 7.53%), and pacemakers (1, 0.06%). Patients with vasovagal syncope (VVS) coexisting with postural orthostatic tachycardia syndrome (POTS) were more likely to take pharmacological treatments than those with VVS or POTS only (χ2 = 41.696, P < 0.01).ConclusionThe number of children with syncope displayed an increasing trend before 2020, and the proportion of unexplained syncope decreased. Autonomic nervous function exercise was the most common treatment for children and adolescents with NMS. Children with VVS coexisting with POTS were more likely to receive pharmacological treatments than those with either.

Background: Whether dementia with Lewy bodies (DLB) and Parkinson's disease (PD) dementia (PDD) represent the same disease, distinct entities, or conditions within the same spectrum remains controversial.Objective: The objective of this study was to provide new insight into this debate by separately identifying disease-specific metabolic patterns and comparing them with each other and with previously established PD-related pattern (PDRP).Methods: Patients with DLB (n = 67), patients with PDD (n = 50), and healthy control subjects (HCs; n = 15) with brain 18 F-fluorodeoxyglucose positron emission tomography were enrolled as cohorts A and B for pattern identification and validation, respectively. Patients with PD (n = 30) were included for discrimination. Twenty-one participants had two scans. The principal component analysis was applied for pattern identification (DLB-related pattern [DLBRP], PDD-related pattern [PDDRP]). Similarities and differences among three patterns were assessed by pattern topography, pattern expression, clinical correlations cross-sectionally, and pattern expression changes longitudinally.Results: DLBRP and PDDRP shared highly similar topographies, with relative hypometabolism mainly in the middle temporal gyrus, middle occipital gyrus, lingual gyrus, precuneus, cuneus, angular gyrus, superior and inferior parietal gyrus, middle and inferior frontal gyrus, cingulate, and caudate, and relative hypermetabolism in the cerebellum, putamen, thalamus, precentral/postcentral gyrus, and paracentral lobule, which were more extensive than the PDRP. Patients with DLB and PDD could not be distinguished successfully by any pattern, but patients with PD were easily recognized, especially by DLBRP and PDDRP. The pattern expression of DLBRP and PDDRP showed similar efficacy in cross-sectional disease severity assessment and longitudinal progression monitoring.Conclusions: The consistent abnormalities in metabolic patterns of DLB and PDD might underline the potential continuum across the clinical spectrum from PD to DLB. © 2022 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Simple Summary: B-cell lymphoblastic lymphoma (BCP-LBL) and B-cell acute lymphoblastic leukemia (BCP-ALL) are both malignancies of immature B-cells. However, BCP-ALL has been extensively studied and treatment protocols have changed over the last decades, whereas BCP-LBL is quite rare, and treatment has stayed roughly the same. In this retrospective study, we compare the clinical characteristics of a cohort of BCP-LBL patients to a cohort BCP-ALL patients. With the comparison of this unique large cohort of immature B-cell malignancies, we aim to contribute to elucidating whether BCP-LBL and BCP-ALL represent two diseases, or different representations of the same disease. Increasing the understanding of BCP-LBL in comparison to BCP-ALL is crucial for improving treatment and prognosis for BCP-LBL. B-cell lymphoblastic lymphoma (BCP-LBL) and B-cell acute lymphoblastic leukemia (BCP-ALL) are the malignant counterparts of immature B-cells. BCP-ALL is the most common hematological malignancy in childhood, while BCP-LBL accounts for only 1% of all hematological malignancies in children. Therefore, BCP-ALL has been well studied and treatment protocols have changed over the last decades, whereas treatment for BCP-LBL has stayed roughly the same. Clinical characteristics of 364 pediatric patients with precursor B-cell malignancies were studied, consisting of BCP-LBL (n = 210) and BCP-ALL (n = 154) patients. Our results indicate that based on the clinical presentation of disease, B-cell malignancies probably represent a spectrum ranging from complete isolated medullary disease to apparent complete extramedullary disease. Hepatosplenomegaly and peripheral blood involvement are the most important discriminators, as both seen in 80% and 95% of the BCP-ALL patients and in 2% of the BCP-LBL patients, respectively. In addition, we show that the overall survival rates in this cohort differ significantly between BCP-LBL and BCP-ALL patients aged 1–18 years (p = 0.0080), and that the outcome for infants (0–1 years) with BCP-LBL is significantly decreased compared to BCP-LBL patients of all other pediatric ages (p < 0.0001). [ABSTRACT FROM AUTHOR]

Background: With more emergency visits, there is increasing pressure to provide emergency medical services globally and locally. This study aimed to investigate the epidemiological characteristics and the disease spectrum of patients presenting in the last three years to the Department of Emergency Medicine of Tianjin Medical University General Hospital, a tertiary hospital in Tianjin, China, to improve the services of the emergency medicine department. Methods: A retrospective study was conducted on all patients in the Department of Emergency Medicine of Tianjin Medical University General Hospital from Jan 1, 2017, 00:00:00 to Dec 31, 2020, 23:59:59, including variables like medical record number, gender, age, date of admission, principal diagnosis. The data were analyzed by SPSS statistical software; statistical charts were prepared by GraphPad Prism9.0 and SPSS 20.0; statistical tables were made by Microsoft Excel. Results: A total of 1,314,916 patients presented to the Department of Emergency Medicine of Tianjin Medical University General Hospital from Jan 1, 2017, 00:00:00 to Dec 31, 2020, 23:59:59. In terms of gender distribution, the male–female ratio was 0.78∶1. As for age distribution, patients aged 60–69 were the most (23.47%), and patients younger than 20 years were the least (2.80%). Concerning monthly data, the number of visits peaked during January and December. The distribution of daily visits showed the feature of three highs and a low. The top three prevalence diseases in the emergency disease spectrum were respiratory, cardiovascular, and digestive diseases. The respiratory system was the most common in patients with infectious diseases (200,912, accounting for 86.97%). Among the patients suffering from infectious diseases, the number of patients with respiratory infections peaked in 2019 (73,530) and was the lowest in 2020 (20,078). Conclusions: From 2017 to 2019, the demand for emergency services in Tianjin Medical University General Hospital continued to increase, but it was greatly affected by COVID-19 in 2020. This emergency department is mainly for patients with respiratory system, circulatory system and digestive system diseases, and its treatment time is relatively centralized. The prevention of diseases for people of all ages, especially female patients and the elderly, should be strengthened, and emergency medical resources should be allocated reasonably according to the peak months and crowed periods of patients. [ABSTRACT FROM AUTHOR]

Objective To describe and analyze the spectrum of diseases and changes of elderly patients over 60 years old in Yunnan Province. Methods Through the National Health Statistics Information Network Direct Reporting System, the home page of electronic medical records of discharged elderly patients from the public hospitals in Yunnan province from January 2017 to December 2019 was systematically sorted and analyzed according to the International Classification of Diseases 10 （ICD-10） system perform classification statistics. Results From 2017 to 2019, the average number of hospital discharges were 4 375 768, of which the average number of elderly people aged 60 and over were 1 330 437 per year, accounting for 30.40%. Diseases of circulatory system, respiratory system, digestive system, musculoskeletal system and connective tissue, and genitourinary system ranked among the top 5 diseases, accounting for 66.30% of all diseases. Cerebrovascular diseases, chronic lower respiratory diseases, gallstones and cholecystitis, intervertebral disc disease and renal failure ranked first among the above-mentioned systemic diseases respectively. Chronic lower respiratory diseases, ischemic heart disease, cerebral infarction, hypertension and malignant tumors were the main diseases of the elderly in hospital; Tuberculosis ranked first among infectious diseases. Conclusion Chronic non-communicable diseases have become the main cause of endangering the health of the elderly in Yunnan Province and this will pose a challenge to the weak health management system for the elderly in Yunnan. [ABSTRACT FROM AUTHOR]

ObjectiveInvestigation of the basic conditions and disease spectrum in neonatal intensive care unit (NICU) from 2012 to 2020, in the underdeveloped area of Xiangxi, China.MethodsAll newborns (N = 16,094) admitted to the NICU of a hospital in the Xiangxi area from 2012 to 2020 were selected for the retrospective study.ResultsThe average male/female ratio was 1.43:1, with 9,482 males and 6,612 females admitted to the NICU. The sample comprised 41.02% premature infants, and 56.52% had been delivered via cesarean delivery (CD). The most prevalent diseases diagnosed in the NICU were jaundice (22.01%), respiratory (18.45%) and neurological diseases (17.54%). Over the 9-year study window, the prevalence of jaundice and cardiovascular diseases increased, while respiratory and neurological diseases became less frequent. The prevalence of the remaining diseases remained unchanged. Prevalence of neonatal diseases is influenced by gender, patient sources, delivery methods, gestational age and birth weight (P < 0.05). The prevalence of neonatal diseases was significantly higher in males, infants born via CD, and in infants of lower gestational age and birth weight.ConclusionThe study contributes in-depth information about infant characteristics in an NICU in an undeveloped region of China. In the past 9 years, the average proportion of premature infants in the NICU decreased to 37.38% in 2020, but this figure remains higher than the Chinese national average of 26.2%. Similarly, the CD rate is higher than the Chinese average. The spectrum of neonatal diseases in the NICU in Xiangxi area is drawn, included jaundice, respiratory and neurological diseases, primarily. Through statistical analysis, it is found that the types and prevalence of neonatal diseases are closely related to different gender, gestational age, patient sources, delivery methods, and birth weight (P < 0.05). Newborns of specific gestational age, birth weight and delivery method should be considered “at-risk” and targeted in the formulation of preventive measures. There is a great need to improve the diagnosis and treatment of neonatal diseases—and perinatal health care in general—to ensure improved outcomes for newborns admitted to NICUs in underdeveloped regions.

• Tandem mass spectrometry enables rapid and accurate detection of metabolites. • Tandem mass spectrometry for neonates and high-risk infants can provide a wealth of clinical data and metabolite spectra. • Early detection and early diagnosis can lead to more precise treatment, genetic counseling and scientific research. Compare the differences between normal newborns and high-risk children with inherited metabolic diseases. The disease profile includes amino acidemias, fatty acid oxidation disorders, and organic acidemias. Data was collected on newborns and children from high-risk populations in Shanghai from December 2010 to December 2020. 232,561 newborns were screened for disorders of organic, amino acid, and fatty acid metabolism. The initial positive rate was 0.66 % (1,526/232,561) and the positive recall rate was 77.85 %. The positive predictive value is 4.71 %. Among them, 56 cases were diagnosed as metabolic abnormalities. The total incidence rate is 1:4153. Hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase are the most common diseases in newborns. In addition, in 56 children, 39 (69.42 %) were diagnosed by genetic sequencing. Some hotspot mutations in 14 IEMs have been observed, including PAH gene c.728G > A, c.611A > G, and ACADS gene c. 1031A > G, c.164C > T. A total of 49,860 symptomatic patients were screened, of which 185 were diagnosed with IEM, with a detection rate of 0.37 %. The most commonly diagnosed diseases in high-risk infants aremethylmalonic acidemia and hyperphenylalaninemia. There are more clinical cases of congenital metabolic errors diagnosed by tandem mass spectrometry than newborn screening. The spectrum of diseases, prevalence, and genetic characteristics of normal newborns and high-risk children are quite different. [ABSTRACT FROM AUTHOR]

Is it possible that the origin of Mycobacterium tuberculosis (Mtb) infection was around 70,000 years before the common era? At that time Homo sapiens was just another primate species with discrete growth and a very low-density geographic occupation. Therefore, it is difficult to understand the origin of a highly virulent obligate human pathogen. We have designed a new SEIR model (TBSpectr) that allows the differentiation of smear-positive and -negative tuberculosis. The model reconciles currently accepted growth rates for the Middle Paleolithic (0.003%/year) and Neolithic (0.1%/year). The obtained data link the origin of Mtb infection in the Middle Paleolithic to the induction of smear-negative TB, and reveal that its persistence required interrelations among hunter–gatherer groups, while the risk of human extinction was negligible. It also highlights the number of people infected per case and the fast progression to disease for Mtb infection maintenance, as well as the link between poor health in the Neolithic with the increased incidence of more severe forms of TB (smear-positive). In conclusion, our data support the origin of TB as a well-tolerated, highly persistent disease, even in low-density populations, showing the difficulty of its eradication and highlighting the necessity for providing better health conditions to humans to reduce its severity. [ABSTRACT FROM AUTHOR]

Objective To analyze the disease spectrum and prognosis of each pathological subtype of rare lung malignancies. Methods We retrospectively analyzed the clinical data of rare primary lung malignancies diagnosed pathologically from 2004 to 2015 in the SEER database, as well as the composition and incidence trend of each subtype. Kaplan-Meier method was used to calculate the 1-, 3- and 5-year survival rates and draw the survival curves. Results We included 13428 patients totally, including large cell carcinoma, adenosquamous carcinoma, sarcomatoid carcinomas, salivary gland-type tumor, lympho-epithelial carcinoma, mesenchymal tumors and tumors of ectopic origin; and their composition ratios in all lung malignancies in the same period were 1.72%, 1.13%, 0.36%, 0.09%, 0.01%, 0.19% and 0.01%, respectively. The composition ratio of large cell carcinoma decreased year by year, while that of adenosquamous carcinoma increased slowly. The 5-year overall survival rate of all patients with rare lung malignancy was 16.86% and the median survival time was 8 months. Conclusion Adenosquamous carcinoma of the lung has become the first rare primary malignant lung tumor in the sequence of incidence. Rare primary malignant tumors in the lung have poor overall prognosis because the driving gene mutation rate is low and rare mutation type is common.

Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,840 newborn patients admitted for various medical conditions at the Children's Hospital of Chongqing Medical University from January 2017 and December 2022. Liquid chromatography-tandem mass spectrometry (LC-MS/MS), gas chromatography-mass spectrometry (GC-MS/MS), and genetic analysis were used to elucidate the disease spectrum, incidence rate, and genetic characteristics of IEMs in hospitalized newborns. The results revealed that the incidence of IEMs in hospitalized newborns was 1/377 (58/21,840), with a higher incidence in full-term infants (1/428) than in premature infants (1/3,120). Among the diagnosed genetic metabolic diseases, organic acid metabolism disorders (1/662), amino acid metabolism disorders (1/950), and fatty acid oxidation disorders (1/10,920) were the most prevalent. Methylmalonic acidemia (MMA), especially the isolated form, emerged as the most common IEM, while neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and ornithine transcarbamylase deficiency (OTCD) were prevalent in premature infants. Of the 58 confirmed cases of IEMs, 72 variants were identified, of which 31.94% (23/72) had not been reported previously. This study contributes to understanding the incidence and clinical features of IEMs in hospitalized newborns, offering more efficient strategies for screening and diagnosing these disorders., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Wang, Zhang, Yang, Zhang, Wang, Yu, Yang, Huang, Liu, Tang and He.)

Background: Tuberculous meningitis (TBM) is the most severe form of tuberculosis (TB) and can be difficult to diagnose and treat. We aimed to describe the clinical presentation, diagnosis, disease spectrum, outcome, and prognostic factors of patients treated for TBM in China., Methods: A multicenter retrospective study was conducted from 2009 to 2019 enrolling all presumptive TBM patients referred to Xijing tertiary Hospital from 27 referral centers in and around Shaanxi province, China. Patients with clinical features suggestive of TBM (abnormal CSF parameters) were included in the study if they had adequate baseline information to be classified as "confirmed," "probable," or "possible" TBM according to international consensus TBM criteria and remained in follow-up. Patients with a confirmed alternative diagnosis or severe immune compromise were excluded. Clinical presentation, central nervous system imaging, cerebrospinal fluid (CSF) results, TBM score, and outcome-assessed using the modified Barthel disability index-were recorded and compared., Findings: A total of 341 presumptive TBM patients met selection criteria; 63 confirmed TBM (25 culture positive, 42 Xpert-MTB/RIF positive), 66 probable TBM, 163 possible TBM, and 49 "not TBM." Death was associated with BMRC grade III (OR = 5.172; 95%CI: 2.298-11.641), TBM score ≥ 15 (OR = 3.843; 95%CI: 1.372-10.761), age > 60 years (OR = 3.566; 95%CI: 1.022-12.442), and CSF neutrophil ratio ≥ 25% (OR = 2.298; 95%CI: 1.027-5.139). Among those with confirmed TBM, nearly one-third (17/63, 27.0%) had a TBM score < 12; these patients exhibited less classic meningitis symptoms and signs and had better outcomes compared with those with a TBM score ≥ 12. In this group, signs of disseminated/miliary TB (OR = 12.427; 95%CI: 1.138-135.758) and a higher TBM score (≥15, OR = 8.437; 95%CI: 1.328-53.585) were most strongly associated with death., Conclusion: TBM patients who are older (>60 years) have higher TBM scores or CSF neutrophil ratios, have signs of disseminated/miliary TB, and are at greatest risk of death. In general, more effort needs to be done to improve early diagnosis and treatment outcome in TBM patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Wang, Li, Cai, Cheng, Li, Liu, Zhou, Wang, Feng, Marais and Zhao.)

Mycoplasma pneumoniae (MP) is commonly detected in children. However, the epidemiological trends of MP in Northeast (NE) China are unclear. This retrospective study aimed to investigate the prevalence of MP infections in this understudied region. The clinical manifestations and bronchoscopic findings observed in hospitalized patients with severe Mycoplasma pneumoniae pneumonia (SMPP) were collected from comprehensive data obtained from six tertiary hospitals in NE and Inner Mongolian (IM) China, from 1 January 2017 to 31 December 2023. A total of 5,593,530 children who visited the outpatient and emergency departments, and 412,480 inpatient hospitalized children were included in the study. The positivity rate of MP immunoglobulin M (IgM) in the children who visited the outpatient and emergency departments varied from 7.80% to 10.12%, whereas that of MP infection in hospitalized children ranged from 27.18% to 30.10%. Children hospitalized for MP infection were mainly concentrated in the 1- to 4-year (41.39%) and 4- to 7-year (24.25%) age groups. Before 2020, the season with the highest incidence of MP was winter. After the implementation of non-pharmaceutical interventions (NPIs), the MP epidemic season changed, and the number of children with MP infections decreased; however, the proportion of MP infections in hospitalized children did not change significantly. Starting from August 2023, the MP infection rate in outpatient, emergency, and hospitalized children increased sharply, with SMPP and its complications (e.g., plastic bronchitis and pleural effusion) increasing significantly. MP is prevalent in NE and IM, China. When the NPIs ended, MP infection showed a delayed outbreak trend, and the number of children with severe infection increased significantly., Importance: In Northeastern (NE) and Inner Mongolia (IM), the incidence of Mycoplasma pneumoniae (MP) infections, including severe Mycoplasma pneumoniae pneumonia (SMPP), is high, posing health risks and imposing substantial economic burdens on the local population. Therefore, it is imperative to prioritize the study of MP prevalence and address the research gaps in MP epidemiology in these areas of China. We obtained a comprehensive collection of pediatric outpatient, emergency, and inpatient data from six public Grade III hospitals. We believe that our study makes a significant contribution to the literature because understanding regional variations in MP infections can help healthcare professionals tailor prevention and treatment strategies, and studying bronchoscopic manifestations can provide insights into the impact of the disease on the respiratory system, potentially leading to a more effective clinical management., Competing Interests: The authors declare no conflict of interest.

Objective: This study aims to compare the changes in the disease spectrum of children admitted to the Pediatric Intensive Care Units (PICU) during the COVID-19 pandemic with the three years prior to the pandemic, exploring the impact of the COVID-19 pandemic on the disease spectrum of PICU patients., Methods: A retrospective analysis was conducted on critically ill children admitted to the PICU of Hunan Children's Hospital from January 2020 to December 2022, and the results were compared with cases from the same period between January 2017 and December 2019. The cases were divided into pre-pandemic period (January 2017-December 2019) with 8,218 cases, and pandemic period (January 2020-December 2022) with 5,619 cases. General characteristics, age, and gender were compared between the two groups., Results: Compared to the pre-pandemic period, there was a 31.62% decrease in the number of admitted children during the pandemic period, and a 52.78% reduction in the proportion of respiratory system diseases. The overall mortality rate decreased by 87.81%. There were differences in age and gender distribution between the two periods. The length of hospital stay during the pandemic showed no statistical significance, whereas hospitalization costs exhibited statistical significance., Conclusion: The COVID-19 pandemic has exerted a certain influence on the disease spectrum of PICU admissions. Implementing relevant measures during the pandemic can help reduce the occurrence of respiratory system diseases in children. Considering the changes in the disease spectrum of critically ill PICU children, future clinical prevention and treatment in PICUs should continue to prioritize the respiratory, neurological, and hematological oncology systems., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Yang, He, Huang, Yan, Zhang, Xiao and Lu.)

The paper presents the summary of the spectrum of encephalopathy treated with acupuncture and moxibustion and the analysis on the existing questions in its clinical research, and proposes the potential strategies on treatment of encephalopathy with acupuncture and moxibustion. The spectrum of encephalopathy includes 23 diseases of central nervous system (superspinal center) and 33 kinds of mental and behavioral disorders. There are three problems in clinical research of acupuncture and moxibustion for encephalopathy, i.e. lack of high-quality clinical evidences, inadequate support from theoretic study of TCM and limited study on the rules of treatment. Hence, the author proposes five strategies on the treatment of encephalopathy with acupuncture and moxibustion, i.e. ① stimulating the peripheral nerve trunk associated with brain dysfunction, triggering the interaction between peripheral and central nerves and emphasizing the autonomic rehabilitation training to promote the reorganization of brain function; ② improving the cerebral circulation and metabolism by stimulating the trigeminal nerve and sphenopalatine ganglion; ③ stimulating the sites with high-dense distribution of peripheral nerve endings and the large projection area in the somatosensory region of the brain to induce strong brain responses, which may adjust the abnormal operation of the default mode network in the resting state; ④ stimulating the vagus nerve to improve the mood, suppressing the abnormal firing of brain neurons and stimulating the sites with the stellate ganglion distributed to modulate the hypothalamic function; ⑤ delivering the therapeutic regimens in association with the specific conditions and symptoms, and the classification of the physical signs on the base of the treatment of encephalopathy.

Background: Timely pulmonary tuberculosis (PTB) diagnosis is a global health priority for interrupting transmission and optimizing treatment outcomes. The traditional dichotomous time-divided approach for addressing time delays in diagnosis has limited clinical application because the time delay significantly varies depending on each community in question., Objective: We aimed to reevaluate the diagnosis time delay based on the PTB disease spectrum using a novel scoring system that was applied at the national level in the Republic of Korea., Methods: The Pulmonary Tuberculosis Spectrum Score (PTBSS) was developed based on previously published proposals related to the disease spectrum, and its validity was assessed by examining both all-cause and PTB-related mortality. In our analysis, we integrated the PTBSS into the Korea Tuberculosis Cohort Registry. We evaluated various time delays, including patient, health care, and overall delays, and their system-associated variables in line with each PTBSS. Furthermore, we reclassified the scores into distinct categories of mild (PTBSS=0-1), moderate (PBTBSS=2-3), and severe (PBTBSS=4-6) using a multivariate regression approach., Results: Among the 14,031 Korean patients with active PTB whose data were analyzed from 2018 to 2020, 37% (n=5191), 38% (n=5328), and 25% (n=3512) were classified as having a mild, moderate, and severe disease status, respectively, according to the PTBSS. This classification can therefore reflect the disease spectrum of PTB by considering the correlation of the score with mortality. The time delay patterns differed according to the PTBSS. In health care delays according to the PTBSS, greater PTB disease progression was associated with a shorter diagnosis period, since the condition is microbiologically easy to diagnose. However, with respect to patient delays, the change in elapsed time showed a U-shaped pattern as PTB progressed. This means that a remarkable patient delay in the real-world setting might occur at both apical ends of the spectrum (ie, in both mild and severe cases of PTB). Independent risk factors for a severe PTB pattern were age (adjusted odds ratio 1.014) and male sex (adjusted odds ratio 1.422), whereas no significant risk factor was found for mild PTB., Conclusions: Timely PTB diagnosis should be accomplished. This can be improved with use of the PTBSS, a simple and intuitive scoring system, which can be more helpful in clinical and public health applications compared to the traditional dichotomous time-only approach., (©Yousang Ko, Jae Seuk Park, Jinsoo Min, Hyung Woo Kim, Hyeon-Kyoung Koo, Jee Youn Oh, Yun-Jeong Jeong, Eunhye Lee, Bumhee Yang, Ju Sang Kim, Sung-Soon Lee, Yunhyung Kwon, Jiyeon Yang, Ji yeon Han, You Jin Jang, Jinseob Kim. Originally published in JMIR Public Health and Surveillance (https://publichealth.jmir.org), 01.04.2024.)

Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spectrometry (MS/MS) is an effective method for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. A total of 111,986 healthy newborns and 7,461 hospitalized high-risk infants were screened for IEMs using MS/MS to understand the characteristics of IEMs and related gene mutations in newborns and high-risk infants in Liuzhou. Positive samples were analyzed by Sanger sequencing or next-generation sequencing. The results showed that the incidence of IEMs in newborns in the Liuzhou area was 1/3,733, and the incidence of IEMs in high-risk infants was 1/393. Primary carnitine deficiency (1/9,332), phenylketonuria (1/18,664), and isovaleric acidemia (1/37,329) ranked the highest in neonates, while citrullinemia type II ranked the highest in high-risk infants (1/1,865). Further, 56 mutations of 17 IEMs-related genes were found in 49 diagnosed children. Among these, HPD c.941T > C, CBS c.1465C > T, ACADS c.337G > A, c.1195C > T, ETFA c.737G > T, MMACHC 1076bp deletion, PCCB c.132-134delGACinsAT, IVD c.548C > T, c.757A > G, GCDH c.1060G > T, and HMGCL c.501C > G were all unreported variants. Some related hotspot mutations were found, including SLC22A5 c.51C > G, PAH c.1223G > A, IVD c.1208A > G, ACADS c.625G > A, and GCDH c.532G > A. These results show that the overall incidence of IEMs in the Liuzhou area is high. Hence, the scope of IEMs screening and publicity and education should be expanded for a clear diagnosis in the early stage of the disease. [ABSTRACT FROM AUTHOR]

Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spectrometry (MS/MS) is an effective method for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. A total of 111,986 healthy newborns and 7,461 hospitalized high-risk infants were screened for IEMs using MS/MS to understand the characteristics of IEMs and related gene mutations in newborns and high-risk infants in Liuzhou. Positive samples were analyzed by Sanger sequencing or next-generation sequencing. The results showed that the incidence of IEMs in newborns in the Liuzhou area was 1/3,733, and the incidence of IEMs in high-risk infants was 1/393. Primary carnitine deficiency (1/9,332), phenylketonuria (1/18,664), and isovaleric acidemia (1/37,329) ranked the highest in neonates, while citrullinemia type II ranked the highest in high-risk infants (1/1,865). Further, 56 mutations of 17 IEMs-related genes were found in 49 diagnosed children. Among these, HPD c.941T > C, CBS c.1465C > T, ACADS c.337G > A, c.1195C > T, ETFA c.737G > T, MMACHC 1076bp deletion, PCCB c.132-134delGACinsAT, IVD c.548C > T, c.757A > G, GCDH c.1060G > T, and HMGCL c.501C > G were all unreported variants. Some related hotspot mutations were found, including SLC22A5 c.51C > G, PAH c.1223G > A, IVD c.1208A > G, ACADS c.625G > A, and GCDH c.532G > A. These results show that the overall incidence of IEMs in the Liuzhou area is high. Hence, the scope of IEMs screening and publicity and education should be expanded for a clear diagnosis in the early stage of the disease.

BackgroundPathogenic variants in cancer susceptibility genes can increase the risk of a spectrum of diseases, which clinicians must manage for their patients. We evaluated the disease spectrum of breast cancer susceptibility genes (BCSGs) with the aim of developing a comprehensive resource of gene-disease associations for clinicians.MethodsTwelve genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RECQL, STK11, and TP53), all of which have been conclusively established as BCSGs by the Clinical Genome Resource (ClinGen) and/or the NCCN guidelines, were investigated. The potential gene-disease associations for these 12 genes were verified and evaluated based on six genetic resources (ClinGen, NCCN, OMIM, Genetics Home Reference, GeneCards, and Gene-NCBI) and an additional literature review using a semiautomated natural language processing (NLP) abstract classification procedure.ResultsForty-two diseases were found to be associated with one or more of the 12 BCSGs for a total of 86 gene-disease associations, of which 90% (78/86) were verified by ClinGen and/or NCCN. Four gene-disease associations could not be verified by either ClinGen or NCCN but were verified by at least three of the other four genetic resources. Four gene-disease associations were verified by the NLP procedure alone.ConclusionThis study is unique in that it systematically investigates the reported disease spectrum of BCSGs by surveying multiple genetic resources and the literature with the aim of developing a single consolidated, comprehensive resource for clinicians. This innovative approach provides a general guide for evaluating gene-disease associations for BCSGs, potentially improving the clinical management of at-risk individuals.

Pathogenic variants in germline cancer susceptibility genes can increase the risk of a large number of diseases. Our study aims to assess the disease spectrum of gastric cancer susceptibility genes and to develop a comprehensive resource of gene-disease associations for clinicians. Twenty-seven potential germline gastric cancer susceptibility genes were identified from three review articles and from six commonly used genetic information resources. The diseases associated with each gene were evaluated via a semi-structured review of six genetic resources and an additional literature review using a natural language processing (NLP)-based procedure. Out of 27 candidate genes, 13 were identified as gastric cancer susceptibility genes (APC, ATM, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH-Biallelic, PALB2, SMAD4, and STK11). A total of 145 gene-disease associations (with 45 unique diseases) were found to be associated with these 13 genes. Other gastrointestinal cancers were prominent among identified associations, with 11 of 13 gastric cancer susceptibility genes also associated with colorectal cancer, eight genes associated with pancreatic cancer, and seven genes associated with small intestine cancer. Gastric cancer susceptibility genes are frequently associated with other diseases as well as gastric cancer, with potential implications for how carriers of these genes are screened and managed. Unfortunately, commonly used genetic resources provide heterogeneous information with regard to these genes and their associated diseases, highlighting the importance of developing guides for clinicians that integrate data across available resources and the medical literature. [ABSTRACT FROM AUTHOR]

Background: Pathogenic variants in cancer susceptibility genes can increase the risk of a spectrum of diseases, which clinicians must manage for their patients. We evaluated the disease spectrum of breast cancer susceptibility genes (BCSGs) with the aim of developing a comprehensive resource of gene-disease associations for clinicians. Methods: Twelve genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RECQL, STK11 , and TP53), all of which have been conclusively established as BCSGs by the Clinical Genome Resource (ClinGen) and/or the NCCN guidelines, were investigated. The potential gene-disease associations for these 12 genes were verified and evaluated based on six genetic resources (ClinGen, NCCN, OMIM, Genetics Home Reference, GeneCards, and Gene-NCBI) and an additional literature review using a semiautomated natural language processing (NLP) abstract classification procedure. Results: Forty-two diseases were found to be associated with one or more of the 12 BCSGs for a total of 86 gene-disease associations, of which 90% (78/86) were verified by ClinGen and/or NCCN. Four gene-disease associations could not be verified by either ClinGen or NCCN but were verified by at least three of the other four genetic resources. Four gene-disease associations were verified by the NLP procedure alone. Conclusion: This study is unique in that it systematically investigates the reported disease spectrum of BCSGs by surveying multiple genetic resources and the literature with the aim of developing a single consolidated, comprehensive resource for clinicians. This innovative approach provides a general guide for evaluating gene-disease associations for BCSGs, potentially improving the clinical management of at-risk individuals. [ABSTRACT FROM AUTHOR]

Abstract Importance Morbidity and mortality of children are important indicators of the performance of the public health system in any country. In China, the children's disease spectrum has gradually changed in recent years. However, the gender‐ and age‐specific disease spectrum for hospitalized children under 15 years old is still unclear. Objective To explore the gender‐ and age‐based distribution of diseases in hospitalized children under 15 years in China. Methods Medical records home page data for 2016 to 2018 were collected from 18 tertiary children's hospitals in China. The gender‐ and age‐specific disease spectrum was analyzed, using the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD‐10). Results The most common diseases were those of the respiratory system (25.7% of all 2 232 142 hospitalized children). The top three diseases for boys were diseases of the respiratory system (25.6%), diseases of the digestive system (11.4%) and certain conditions originating in the perinatal period (8.6%). The top three diseases for girls were diseases of the respiratory system (25.9%), certain conditions originating in the perinatal period (10.1%), and factors influencing health status and contact with health services (9.4%). The most common diseases for children under 1 year old were certain conditions originating in the perinatal period (38.1%). For all other age groups, the most common conditions were respiratory diseases (33.8% for those aged 1–3 years, 25.2% for those aged 4–6 years, and 12.2% for those aged 7–14 years). Interpretation This study analyzed the medical records home pages of 18 children's hospitals to provide the first overview of the disease spectrum and its gender‐ and age‐specific distribution among children in China.