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Multiple sclerosis (MS) diagnosis includes the presence of restricted oligoclonal bands (OCB) in cerebrospinal fluid (CSF), but it has several limitations, as it is an observer‐dependent time‐consuming technique and offers a dichotomous result. Thus kappa free light chains (KFLC) have emerged as a quantitative alternative. However, the cut‐off values for KFLC have not been well established yet and it is not clear if differences between sexes exist. We aim to evaluate these and to compare the diagnostic accuracy of KFLC concentrations and their related indexes versus OCB. For that purpose, paired CSF and serum samples were collected and immediately processed for albumin, total protein, immunoglobulins and OCB, then frozen at −20°C. KFLC was measured in a BN II (Siemens Healthineers, Germany). KFLC‐derived indexes were calculated. Diagnostic accuracy was evaluated by the area under the curve (AUC), Youden's index and odds ratio. From the 193 patients included, 56 were classified as MS according to the 2017 McDonald criteria. K‐index, Q KFLC and Reiber's diagram showed good accuracy in MS diagnosis when studied distinguishing between sexes, similar to OCB. Cut‐offs for K‐index and Q KFLC change substantially between sex having the highest AUC similar than OCB. A sex‐dependent algorithm combining the use of K‐index, Q KFLC and OCB yields the highest diagnostic accuracy. In conclusion, CSF KFLC measurement is a rapid, quantitative and easy‐to‐standardize tool that used through the proposed sex‐dependent algorithm may reduce the number of manual OCB tests performed. [ABSTRACT FROM AUTHOR]

Context Current guidelines for distinguishing Cushing's disease (CD) from ectopic ACTH secretion (EAS) are questionable, as they use pituitary magnetic resonance imaging (MRI) as first-line investigation for all patients. CRH testing is no longer available, and they suggest performing inferior petrosal sinus sampling (BIPPS), an invasive and rarely available investigation, in many patients. Objective To establish noninvasive personalized diagnostic strategies based on the probability of EAS estimated from simple baseline parameters. Design Retrospective study. Setting University hospitals. Patients Two hundred forty-seven CD and 36 EAS patients evaluated between 2001 and 2023 in 2 French hospitals. A single-center cohort of 105 Belgian patients served as external validation. Results Twenty-four-hour urinary free cortisol (UFC) had the highest area under the receiver operating characteristic curve for discrimination of CD from EAS (.96 [95% confidence interval (CI),.92-.99] in the primary study and.99 [95% CI,.98-1.00] in the validation cohort). The addition of clinical, imaging, and biochemical parameters did not improve EAS prediction over UFC alone, with only BIPPS showing a modest improvement (C-statistic index.99 [95% CI,.97-1.00]). Three groups were defined based on baseline UFC: < 3 (group 1), 3-10 (group 2), and > 10 × the upper limit of normal (group 3), and they were associated with 0%, 6.1%, and 66.7% prevalence of EAS, respectively. Diagnostic approaches performed in our cohort support the use of pituitary MRI alone in group 1, MRI first followed by neck-to-pelvis computed tomography scan (npCT) when negative in group 2, and npCT first followed by pituitary MRI when negative in group 3. When not combined with the CRH test, the desmopressin test has limited diagnostic value. Conclusion UFC accurately predicts EAS and can serve to define personalized and noninvasive diagnostic algorithms. [ABSTRACT FROM AUTHOR]

Back pain is a common reason for seeking primary care from older and younger people. Early spinal imaging by a therapist is indicated to eliminate potentially dangerous causes of pain. Independent magnetic resonance imaging or computed tomography examination at the patient’s initiative in the absence of “red flags” back pain in most cases does not come close to identifying the obvious cause of pain syndrome, and it creates the preconditions for the formation of an exaggerated picture of the disease in the patient himself, driving him into the “trap” of chronic pain. Attention of the polyclinic doctor to the clinical symptoms detailed in the article, following the standard algorithms of diagnosis will allow timely suspicion of “red flags” back pain, avoid hyperdiagnosis of the cause, and minimize the risk of its chronization. The algorithm for treatment of acute and chronic episodes of pain should include informing the patient about the favorable outcome in the vast majority of cases, optimizing the physical activity of the patient, the use of complex drug therapy, the basis of which are nonsteroidal anti-inflammatory drugs (predominantly selective), muscle relaxants and other pathogenetically based medicines.

The development of right ventricular hypertrophy (RVH) is a consequence of a large group of diseases that lead to increased pressure or volume load on the right ventricle. Electrocardiography (ECG) is a commonly used diagnostic method in clinical practice. This method allows for the identification of RVH signs in the early stages of examination. During the 20th century, more than 30 diagnostic criteria were developed. Several of these criteria are associated with worse prognosis, including increased mortality. Authors of international guidelines recommend the verification of criteria in local populations. Such studies have not been published in Russia, but according to data obtained from foreign researchers, the diagnostic properties of ECG criteria can vary significantly. In most cases, the criteria are characterized by low sensitivity and high specificity, which complicates early diagnosis of conditions leading to RVH development. It is proposed to increase the sensitivity of the method by using all the developed criteria or sets that include some of them. However, this approach may reduce the specificity of ECG diagnosis of RVH, and the selection of criteria for inclusion in diagnostic algorithms is not always based on scientific research data. This article analyzes the history of the development of RVH criteria, research data on their diagnostic capabilities, and ways to improve diagnostic algorithms.

Abstract The eating and feeding disorder section of the Diagnostic and Statistical Manual of Mental Disorders 5 Text Revision (DSM-5-TR) is organized by a diagnostic algorithm that limits the contemporaneous assignment of multiple eating disorder diagnoses. Avoidant/restrictive food intake disorder (ARFID) is a disturbance in food intake typically associated with lack of interest in food, food avoidance based on sensory characteristics, and/or fear of aversive consequences from eating. According to the DSM-5-TR, an ARFID diagnosis cannot be made when weight or shape disturbances are present, and ARFID cannot be co-diagnosed with other eating disorders characterized by these disturbances. However, emerging evidence from both clinical and lived experience contexts suggests that the co-occurrence of ARFID with multiple other types of eating disorders may be problematically invisibilized by this trumping scheme. The diagnostic criteria for ARFID can contribute to inappropriate diagnosis or exclusion from diagnosis due to excessive ambiguity and disqualification based on body image disturbance and other eating disorder pathology, even if unrelated to the food restriction or avoidance. This harmfully limits the ability of diagnostic codes to accurately describe an individual’s eating disorder symptomatology, impacting access to specialized and appropriate eating disorder care. Therefore, revision of the DSM-5-TR criteria for ARFID and removal of limitations on the diagnosis of ARFID concurrent to other full-syndrome eating disorders stands to improve identification, diagnosis, and support of the full spectrum of ARFID presentations.

Abstract Ovarian cancer (OC) is the most lethal gynecological cancer in the developed world. Most cases are diagnosed at late stage III-IV with a very low 5-year overall survival rate. Several studies revealed an elevated risk of OC in users of hormone treatment (HT) compared with non-users. The extended duration of HT is a statistically significant risk factor. Carbohydrate antigen or cancer antigen 125 (CA-125) remains the best screening tool for OC; however, its value is limited due to low specificity, leading to unnecessary interventions, surgeries, and psychological harm. Additionally, the variability of ultrasound interpretation highlights the urgent need to develop a univariate index with higher sensitivity and specificity for early diagnosis of OC in women under HT. Herein we critically review the limitations of biomarkers for the detection of OC aiming to suggest an accurate and cost-effective diagnostic ratio that eliminates the impact of body mass index, age, HT, smoking, and benign ovarian diseases on measurements. Numerous studies combine biomarkers such as CA-125, human epididymis protein 4, and thymidine kinase 1 into diagnostic algorithms. Data suggest that the expression of estrogen receptors may have diagnostic and prognostic value, as the estrogen receptor α (ERα):estrogen receptor β (ERβ) ratio is significantly higher in OC than in normal tissue due to ERβ downregulation. A high positive correlation between expression of CA-125 and carbohydrate antigen or cancer antigen 72 − 4 (CA72-4) with ERα and ERβ, respectively, poses that a novel ratio CA-125:CA72-4 could be nodal for monitoring post-menopausal women under HT.

Background. Despite the high evidence level of the currently existing international recommendations on stable coronary heart disease (CHD) and chronic coronary syndrome, their implementation in domestic clinical practice is insufficient.The aim of the work. To analyze the choice of diagnostic tactics (non-invasive and invasive) in patients with suspected obstructive coronary heart disease in real clinical practice.Methods. The study included outpatients with suspected obstructive CHD, in whom the pre-test probability (PTP) of obstructive CHD was determined; if PTP = 5–15 %, clinical probability was assessed based on CHD risk factors. Based on the results of coronary angiography, the following groups were identified: group I – obstructive lesion of the coronary arteries (≥ 70 %) (n = 50); group II – non-obstructive lesion of the coronary arteries (< 70 %) (n = 32); group III – intact coronary arteries (n = 40). Results. According to the results of coronary angiography, the frequency of detection of obstructive lesion of the coronary arteries was 42 % (in patients without past medical history of myocardial infarction – 31 %). Before performing coronary angiography, non-invasive tests were performed in 2.5 % of cases. Pain in the chest was represented by typical angina in 74 % of patients, with no difference in frequency in all groups. PTP values were statistically significantly higher in the group with obstructive CHD (median – 32 %), however, in the other two groups, PTP values corresponded to a high risk of obstructive CHD (median – 27 % and 21 %, respectively). PTP was an independent predictor for obstructive CHD and subsequent myocardial revascularization.Conclusion. In the cohort of outpatients with suspected coronary heart disease we examined during invasive coronary angiography, the frequency of obstructive lesion of the coronary arteries remains low. Non-invasive tests were performed in isolated cases, while PTP was an independent predictor for obstructive CHD and subsequent myocardial revascularization. To increase the frequency of detection of obstructive coronary heart disease, we should adhere to the diagnostic algorithms of the European Society of Cardiology and make wider use of non-invasive imaging tests.

Objectives: In patients evaluated for hepatocellular carcinoma (HCC), magnetic resonance imaging (MRI) is often used secondarily when multiphase contrast-enhanced computed tomography (ceCT) is inconclusive. We investigated the clinical impact of adding MRI. Materials and methods: This single-institution retrospective study included 48 MRI scans (44 patients) conducted from May 2016 to July 2023 due to suspicion of HCC on a multiphase ceCT scan. Data included medical history, preceding and subsequent imaging, histology when available, and decisions made at multidisciplinary team meetings. Results: In case of possible HCC recurrence, 63% of the MRI scans were diagnostic of HCC. For 80% of the negative MRI scans, the patients were diagnosed with HCC within a median of 165 days in the suspicious area of the liver. In case of possible de-novo HCC in patients with cirrhosis, 22% of the scans were diagnostic of HCC and 33% of the negative MRI scans were of patients diagnosed with HCC within a median of 109 days. None of the non-cirrhotic patients with possible de-novo HCC and negative MRI scans (64%) were later diagnosed with HCC, but 3/5 of the indeterminate scans were of patients diagnosed with HCC in a biopsy. Conclusions: Secondary MRI to a multiphase ceCT scan suspicious of HCC is highly valuable in ruling out HCC in non-cirrhotic patients and in diagnosing HCC non-invasively in cirrhotic patients and patients with prior HCC. Patients with cirrhosis or prior HCC are still at high risk of having HCC if MRI results are inconclusive or negative. [ABSTRACT FROM AUTHOR]

Takotsubo syndrome (TTS), also known as the broken-heart syndrome, is a reversible condition typically observed in female patients presenting for acute coronary syndromes (ACS). Despite its increasing incidence, TTS often remains undiagnosed due to its overlap with ACS. The pathophysiology of TTS is complex and involves factors such as coronary vasospasm, microcirculatory dysfunction, increased catecholamine levels, and overactivity of the sympathetic nervous system. Diagnosing TTS requires a comprehensive approach, starting with clinical suspicion and progressing to both non-invasive and invasive multimodal tests guided by a specific diagnostic algorithm. Management of TTS should be personalized, considering potential complications, the presence or absence of coronary artery disease (CAD), diagnostic test results, and the patient's clinical course. The current data primarily derive from case series, retrospective analyses, prospective registries, and expert opinions. In recent years, there has been growing recognition of gender differences in the pathophysiology, presentation, and outcomes of TTS. This review provides an updated overview of gender disparities, highlighting the importance of tailored diagnostic and management strategies. [ABSTRACT FROM AUTHOR]

Ovarian cancer (OC) is the most lethal gynecological cancer in the developed world. Most cases are diagnosed at late stage III-IV with a very low 5-year overall survival rate. Several studies revealed an elevated risk of OC in users of hormone treatment (HT) compared with non-users. The extended duration of HT is a statistically significant risk factor. Carbohydrate antigen or cancer antigen 125 (CA-125) remains the best screening tool for OC; however, its value is limited due to low specificity, leading to unnecessary interventions, surgeries, and psychological harm. Additionally, the variability of ultrasound interpretation highlights the urgent need to develop a univariate index with higher sensitivity and specificity for early diagnosis of OC in women under HT. Herein we critically review the limitations of biomarkers for the detection of OC aiming to suggest an accurate and cost-effective diagnostic ratio that eliminates the impact of body mass index, age, HT, smoking, and benign ovarian diseases on measurements. Numerous studies combine biomarkers such as CA-125, human epididymis protein 4, and thymidine kinase 1 into diagnostic algorithms. Data suggest that the expression of estrogen receptors may have diagnostic and prognostic value, as the estrogen receptor α (ERα):estrogen receptor β (ERβ) ratio is significantly higher in OC than in normal tissue due to ERβ downregulation. A high positive correlation between expression of CA-125 and carbohydrate antigen or cancer antigen 72 − 4 (CA72-4) with ERα and ERβ, respectively, poses that a novel ratio CA-125:CA72-4 could be nodal for monitoring post-menopausal women under HT. [ABSTRACT FROM AUTHOR]

The eating and feeding disorder section of the Diagnostic and Statistical Manual of Mental Disorders 5 Text Revision (DSM-5-TR) is organized by a diagnostic algorithm that limits the contemporaneous assignment of multiple eating disorder diagnoses. Avoidant/restrictive food intake disorder (ARFID) is a disturbance in food intake typically associated with lack of interest in food, food avoidance based on sensory characteristics, and/or fear of aversive consequences from eating. According to the DSM-5-TR, an ARFID diagnosis cannot be made when weight or shape disturbances are present, and ARFID cannot be co-diagnosed with other eating disorders characterized by these disturbances. However, emerging evidence from both clinical and lived experience contexts suggests that the co-occurrence of ARFID with multiple other types of eating disorders may be problematically invisibilized by this trumping scheme. The diagnostic criteria for ARFID can contribute to inappropriate diagnosis or exclusion from diagnosis due to excessive ambiguity and disqualification based on body image disturbance and other eating disorder pathology, even if unrelated to the food restriction or avoidance. This harmfully limits the ability of diagnostic codes to accurately describe an individual's eating disorder symptomatology, impacting access to specialized and appropriate eating disorder care. Therefore, revision of the DSM-5-TR criteria for ARFID and removal of limitations on the diagnosis of ARFID concurrent to other full-syndrome eating disorders stands to improve identification, diagnosis, and support of the full spectrum of ARFID presentations. [ABSTRACT FROM AUTHOR]

Intestinal ultrasound (IUS) has recently become the imaging technique of choice for patients with different types of intestinal inflammation. IUS has a high sensitivity, specificity, positive predictive value, and negative predictive value when diagnosing Crohn's disease or ulcerative colitis. Further, it is now the preferred imaging modality for routine IBD reevaluations because of its non-invasiveness, cost-effectiveness, availability (at least in Europe), and reproducibility in all age groups. However, the clinical success of IUS requires IUS training for doctors and technicians who perform IUS with a standardised description of ultrasound findings of the terminal ileum and entire colon. Complications such as abscess formation, fistulae, and stenosis can be detected by either conventional IUS or contrast-enhanced ultrasound (CEUS). Lately, several disease activity scores have been proposed for Crohn's disease, postoperative Crohn's disease, and ulcerative colitis both in adults (including elderly) and in children. IUS was successfully used in randomised clinical trials in order to measure the treatment response. Therefore, IUS now plays a central role in clinical decision making. [ABSTRACT FROM AUTHOR]

Background: The diagnosis and treatment monitoring of hepatitis C is quite challenging. The screening test, i.e. antibody assay, is unable to detect acute cases, while the gold standard hepatitis C virus (HCV) reverse transcriptase polymerase chain reaction (RTPCR) assay is not feasible in resource-limited countries such as India due to high cost and infrastructure requirement. European Association for the Study of the Liver and World Health Organization have approved a new marker, i.e. HCV core antigen (HCVcAg) assay, as an alternative to molecular assay. In this study, we have evaluated HCVcAg assay for diagnosis and treatment monitoring follow-up in Indian population infected with hepatitis C. Methods: Blood specimen of 90 clinically suspected cases of acute hepatitis C were tested simultaneously for anti-HCV antibody assay via ELISA (enzyme-linked immunoassay), HCVcAg assay by chemiluminescence immune assay (CLIA) and HCV RTPCR VL (viral load) assay. Thirty-four HCV RTPCR positive patients were further enrolled in treatment monitoring group whose blood samples were tested at the beginning of treatment, two weeks, four weeks and 12 weeks via HCV core Ag assay and HCV RTPCR Viral Load assay. Results: Considering HCV RTPCR as gold standard, diagnostic performance of HCV core Ag assay and anti-HCV antibody assay was evaluated. The sensitivity and specificity of HCV core Ag assay were higher than that of anti-HCV Antibody assay, i.e. 88.3% and 100% vs. 23.3% and 83.3%, respectively. The overall diagnostic accuracy of HCV core Ag assay was 92.20%. Among treatment follow-up group, HCV core Ag levels correlated well with HCV viral load levels, at the beginning of treatment (baseline) till 12 weeks showing highly significant Spearman rank correlation coefficient of > 0.9 with HCV viral load levels. Conclusions: HCV core Ag assay is a cost-effective, practically feasible substitute of HCV RTPCR viral load assay for diagnosis as well as long duration treatment monitoring of hepatitis C infection in resource-limited settings. [ABSTRACT FROM AUTHOR]

Pediatric population represents the most vulnerable and at risk for unintentional poisoning, with children younger than 6 years old accounting for nearly half of poison exposures. Poisoning is a time‐dependent emergency. The need to reach a scientific agreement on diagnostic protocol and treatment seems to be crucial to reduce morbidity and mortality. Starting from a buprenorphine pediatric intoxication case, this article highlights the limits and pitfalls of the traditional diagnostic approach. Diagnosis of drug intoxication was achieved after several days when an in‐depth diagnostic investigation became necessary and complete forensic toxicological analyses were performed. Results evidenced an alarming lack of an unequivocal diagnostic protocol in case of suspect intoxication in structures not provided with a forensic toxicological service/unit. Collection of biological specimens according to forensic protocols at hospitalization plays a paramount role in the definitive diagnosis of intoxication. A diagnostic algorithm that focuses on medical history and biological specimen collection timing is herein proposed, in order to unify emergency approaches to the suspected poisoned child. [ABSTRACT FROM AUTHOR]

Aim: Paediatric eosinophilia is a common clinical dilemma, often leading to resource‐ and time‐consuming assessments. We aim to evaluate the main aetiologies of eosinophilia in children from different socioeconomic settings and propose a diagnostic algorithm. Methods: A systematic literature review was conducted through PubMed, Embase and the Cochrane Library. Studies published from January 2012 to June 2023 reporting the incidence and aetiology of peripheral eosinophilia in children were included. Evidence from studies on children originating from low‐ or high‐income countries was compared. Results: A total of 15 observational studies, encompassing 3409 children, were included. The causes of eosinophilia varied based on the children's origin and the eosinophilia severity. In children from high‐income countries, allergic diseases were the leading cause, with a prevalence of 7.7%–78.2%, while parasitosis ranged from 1.0% to 9.1%. In children from low‐income countries, parasitosis was predominant, ranging from 17.7% to 88.3%, although allergic diseases were found in 2.5%–4.8% of cases. Concerning severity, allergic diseases were the leading cause of mild‐to‐moderate eosinophilia; parasitosis was associated with moderate‐to‐severe eosinophilia, while immunological disorders were mostly found in severe cases. Conclusion: We developed a step‐up diagnostic algorithm that considers the child's origin and eosinophilia severity and could optimise resource allocation. [ABSTRACT FROM AUTHOR]

Copyright of Gefaesschirurgie is the property of Springer Nature 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.)

Introduction. In the structure of urgent pathology diseases, the leading place belongs to acute pancreatitis, which is the third most common after acute appendicitis and acute cholecystitis. According to statistical data, mild forms of acute pancreatitis account for 84.7%.The aim of the work is to demonstrate a clinical case of recurrent abdominal syndrome occurring under the gastroesophageal mask of acute pancreatitis in order to identify hernia of the esophageal orifice of the diaphragm using the developed diagnostic algorithm.Object and methods. Patient M., 56 years old, repeatedly sought medical help with recurrent abdominal syndrome in a network of polyclinics, as well as a hospital providing emergency specialized medical care. Results and discussion. Against the background of conservative treatment, the patient had a short-term positive dynamics characteristic of a mild form of acute pancreatitis. After taking the patient to the dispensary and conducting an indepth diagnostic examination according to the algorithm developed by our group of researchers, gastroesophageal reflux disease, hernia of the esophageal orifice of the diaphragm was detected.Conclusion. Patients with recurrent abdominal pain syndrome need dispensary observation on an outpatient basis to identify other pathology occurring under the guise of acute pancreatitis and adequate treatment.

TB diagnosis has been simplified in India following advances in available diagnostic tools. This facilitates private doctors' "patient first" approach toward early diagnosis; however, costs remain high. India's NTEP established a TB diagnostic network, which is free for patients and incentivizes private doctors to participate. Drawing from this context led to the design and implementation of the One-Stop TB Diagnostic Solution model, which was conducted in the Hisar district, Haryana, allowing specimens from presumptive TB patients from private doctors to be collected and tested as per NTEPs diagnostic algorithm. A subset of data pertaining to private doctors was analyzed for the project period. Qualitative data were also collected by interviewing doctors using a snowball method to capture doctors' perception about the model. Out of 1159 specimens collected from 60 facilities, MTB was detected in 32% and rifampicin resistance was detected in 7% specimens. All specimens went through the diagnostic algorithm. Thirty doctors interviewed were satisfied with the services offered and were appreciative of the program that implements this "patient centric" model. Results from implementation indicate the need to strengthen private diagnostics through a certification process to ensure provision of quality TB diagnostic services. [ABSTRACT FROM AUTHOR]

Copyright of Herz is the property of Springer Nature 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.)

Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010–2014), adoption period (2015), and delayed implementation (2022); p ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, p = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, p = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, p = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward. [ABSTRACT FROM AUTHOR]

inadequate intake leads to haematological and neurological disorders. Objective:To determine the symptoms and signs associated with Vitamin B12 deficiency. Method: A case control study was conducted at the medicine department of tertiary care hospital. Patients visiting hospital with serum Vitamin B12 level below 200pg/ml were labelled as cases and more than 200 pg/ml were labelled as controls, irrespective of signs and symptoms of Vitamin B 12 deficiency.Controls were matched for age to minimize confounding. 160 cases and 160 controls were selected. Pretested semi structured questionnaire was used to identify signs and symptoms of Vitamin B12 deficiency among cases and controls. Chi square test was applied for each symptom between cases and control, of which 10 were significant (p0.05).Conclusion: Presence of knuckle pigmentation, poor memory, tingling and numbness, and dizziness can be defined as hallmarks of Vitamin B12 deficiency and can be used to predict and start Vitamin B12 supplementation.

Diagnosing disease from the past using historic textual sources can be controversial as to its accuracy. To overcome these objections, an empirical approach to the historical clinical data was developed. The approach follows a standardised, objective, and systematic evaluation, satisfying the requirements of the philosophy of science. Physician-managed medical records of mid-19th century patients reported to have suffered from tuberculosis. A diagnostic algorithm, quantifying clinical data into a scoring system, was developed based on criteria recorded in the medical sources. The findings were compared to the autopsy results using the Receiver Operating Characteristics method. The generated scoring system correctly predicted the diagnosis of tuberculosis in 86% of patients in the study. 6% false negatives and 8% false positives were predicted. It is possible to retrospectively diagnose in a reliable and scientifically robust manner under certain conditions. It is important to embed the clinical data into the historical context. A general rejection of retrospective diagnosis is unsubstantiated. Well-designed, disease-specific, and source adapted medical scoring systems are new approaches and overcome criticism raised against retrospective diagnosis. This new approach utilises diverse historic sources and potentially leads to reliable retrospective diagnosis of most common diseases of the past. Selection bias of the records allocated. Quality of the historic sources utilized. Restricted statistical assessment potential of historic sources. Development of disease- and epoch-specific medical score systems. [ABSTRACT FROM AUTHOR]

The article addresses the issue of increasing the diagnostic capabilities of the car's suspension in the EUSAMA test. A new, quantitative approach was proposed to enable the assessment of the degree of wear and clearance of the lower suspension mount. An active diagnostic experiment was performed to model the clearance in the lower suspension mounting. During the research, bolts with different diameters were used. In the signal analysis, wavelet decomposition into 12 levels was performed using the Db4 wavelet. The resonance area of the system was extracted from an approximate signal, which contained 43.5% of the relative energy. From these signals, a number of point vibration measures were calculated. Finally, the maximum value was selected due to its sensitivity to the condition, which was 48% more than the original EUSAMA results. Based on the selected diagnostic parameter, a clearance model allowing for an assessment of the clearance with statistically significant coefficients was developed. [ABSTRACT FROM AUTHOR]

Cervical cancer (CC) is the fourth most common cause of cancer‐related deaths amongst women worldwide. CC represents a major global healthcare issue, and Romania ranks the worst in mortality rates amongst EU countries. However, the early detection of CC can be lifesaving. To understand the testing process undergone by women in Romania, we performed a retrospective study, and investigated a cohort of 83 785 cervical cases from Romanian women aged 15−70, obtained in private‐based opportunistic screening. We examined the correlation between Pap smear results, human papilloma virus (HPV) genotyping, and the expression of cell cycle markers p16 and Ki‐67. Analysis of Pap results revealed approximately 10% abnormal cases, of which high‐grade squamous intraepithelial lesions constituted 4.9%. HPV genotyping of 12 185 cases with available Pap results unveiled a range of high‐risk HPV (hrHPV) types associated with cervical abnormalities. Notably, 26% of hrHPV‐positive cases showed no observable abnormalities. In a subset of cases with abnormal Pap and a type of hrHPV, P16/Ki‐67 double‐staining was also positive. This study suggests the importance of an integrated diagnostic algorithm that should consider the HPV genotype, Pap smear, and p16/Ki‐67 staining. This algorithm should enhance the CC screening accuracy and its management strategies, particularly in those regions with a high disease burden, such as Romania. [ABSTRACT FROM AUTHOR]

Background: Since the first report of fatal Borna virus-1 (BoDV-1) encephalitis in 2018, cases gradually increased. There is a lack of diagnostic algorithm, and there is no effective treatment so far. Case presentation: We report an acute BoDV-1 encephalitis in a 77-year-old female with flu-like onset, rapid progression to word-finding difficulties, personality changes, global disorientation, diffuse cognitive slowness, and gait ataxia and further deterioration with fever, meningism, severe hyponatremia, epileptic seizures, cognitive decline, and focal cortical and cerebellar symptoms/signs. The extensive diagnostic workup (cerebrovascular fluid, serum, and MRI) for (meningo-) encephalitis was negative for known causes. Our empirical common antiviral, antimicrobial, and immunosuppressive treatment efforts failed. The patient fell into coma 5days after admission, lost all brainstem reflexes on day 18, remained fully dependent on invasive mechanical ventilation thereafter and died on day 42. Brain and spinal cord autopsy confirmed an extensive, diffuse, and severe nonpurulent, lymphocytic sclerosing panencephalomyelitis due to BoDV-1, affecting neocortical, subcortical, cerebellar, neurohypophysis, and spinal cord areas. Along with our case, we critically reviewed all reported BoDV-1 encephalitis cases. Conclusion: The diagnosis of acute BoDV-1 encephalitis is challenging and delayed, while it progresses to fatal. In this study, we list all tried and failed treatments so far for future reference and propose a diagnostic algorithm for prompt suspicion and diagnosis. [ABSTRACT FROM AUTHOR]

Background: Ulcus Vulvae Acutum Lipschütz (UVAL) is a largely unknown disease with a broad and complex differential diagnosis. Objectives: To provide a description of the main characteristics of UVAL, determine the most appropriate diagnostic process and describe the current therapeutic approach. Methods: We designed a retrospective, descriptive cohort study using the gynecological-ER database of our institution. Inclusion criteria: female patients aged between 10 and 20 years old with suspicion of a UVAL diagnosis at CHUV's gynecological ER. Data extraction: epidemiological characteristics, clinical presentation, laboratory tests, established diagnostics, treatment, and ulcer outcomes. Results: 15 patients were included for the analysis; average age: 15 years old; 60% of patients were virgo at the time of ulcer onset; all patients had at least one flu-like symptom concomitant with the vulvar lesion; the most-performed serology was for EBV and acute disease was present in only one patient; for diagnostic purposes two biopsies were performed with both inconclusive histopathology analysis; the main prescribed treatments were: oral NSAIDs, Paracetamol, and Lidocaine gel; 93% of cases presented signs of regression; the average follow-up time was 10 days. The diagnostic algorithm of Sadoghi et al: 10 out of 15 cases were retrospectively diagnosed with UVAL by the algorithm; half were diagnosed with UVAL, and the other half received a diagnosis of "ulcers of unknown origin" at the time of the gynecological ER visit. Conclusions: We highly recommend the diagnostic and therapeutic algorithms developed by Sadoghi et al. as valuable tools to guide clinical reasoning and, consequently, improve acute vulvar ulcers management. [ABSTRACT FROM AUTHOR]

The diagnosis of oral mucosal diseases is a significant challenge due to their diverse differential characteristics. Risk assessment of lesions by visual examination is a complex process due to the lack of definitive guidelines. This study aimed to improve this process by creating a diagnostic algorithm using gaze data acquired during oral mucosal disease examinations. A total of 78 dentists were included in this study. Tobii Pro Nano® (Tobii Technology) was used to acquire gaze data during clinical photographic visual examinations. Advanced analysis tools such as support vector machines and heatmaps were used to visualize the gazing tendencies of a group of skilled oral surgeons, focusing on the number of gazes per region and the gazing time ratios. The preliminary findings showed the possibility of visualizing gazing tendencies and identifying areas of importance for diagnosis. The classification of intraoral photographs based on gross features revealed the existence of an optimal examination method for each category and diagnostically significant areas. This novel approach to analyzing gaze data has the potential to refine diagnostic techniques and increase both accuracy and efficiency. [ABSTRACT FROM AUTHOR]

Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented. Analytical determinations recorded in the Clinical Analysis Unit of the Hospital Universitario Clínico San Cecilio in the period June 2018 – December 2020 were reviewed. A new clinical algorithm to detect HPP-misdiagnosed cases was used including the following steps: confirmation of persistent hypophosphatasemia, exclusion of secondary causes of hypophosphatasemia, determination of serum pyridoxal-5′-phosphate (PLP) and genetic study of ALPL gene. Twenty-four subjects were selected to participate in the study and genetic testing was carried out in 20 of them following clinical algorithm criteria. Eighty percent of patients was misdiagnosed with HPP following the current standard clinical practice. Extrapolating these results to the current Spanish population means that there could be up to 27,177 cases of undiagnosed HPP in Spain. In addition, we found a substantial proportion of HPP patients affected by other comorbidities, such as autoimmune diseases (∼40 %). This new algorithm was effective in detecting previously undiagnosed cases of HPP, which appears to be twice as prevalent as previously estimated for the European population. In the near future, our algorithm could be globally applied routinely in clinical practice to minimize the underdiagnosis of HPP. Additionally, some relevant findings, such as the high prevalence of autoimmune diseases in HPP-affected patients, should be investigated to better characterize this disorder. [ABSTRACT FROM AUTHOR]

Abstract We report a rare case of Sjogren’s syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient evidence linking the two diseases. Here, we review existing diagnostic algorithms for diagnosing diffuse cystic lung disease and provide new insights. The patient initially complained of thirst and dry eyes for ten years, and gradually developed shortness of breath. After admission, physical examination showed five missing teeth, decreased respiratory sounds in both lower lungs, and Velcro rales. Computed tomography showed multiple thin-walled cystic lesions in both lungs. Initial xerophthalmia and labial gland biopsy seemed to reveal a pulmonary cystic change associated with Sjogren’s syndrome. Before discharge, a rash suspected to indicate a fibrofollicular tumor in the neck was observed, and then FLCN variant has been found. The challenges how to clarify the diagnosis of DCLD causes are discussed.

The use of new methods for element-by-element diagnostics of the brake system increases the probability of detecting malfunctions, helps to identify faulty elements in the nodes of the brake system in advance, which helps to reduce accidents on the roads of the country. The development of a method for in-depth diagnosis of the master brake cylinder is an urgent task. Earlier, as part of the development of a new method for diagnosing the main brake cylinder of a hydraulic brake system, a set of diagnostic parameters was determined by the dynamic parameters of the resistance force to pressing the brake pedal. The need to introduce the method for practical use at road transport enterprises set the authors the task of determining the maximum permissible values of diagnostic parameters based on the comparison results, with which a conclusion will be made about the technical condition of the object with subsequent diagnosis. The aim of the work is to determine the maximum allowable values of diagnostic parameters, and to develop an algorithm for making a diagnosis. The maximum permissible values of the diagnostic parameters of the main brake cylinder were determined on the basis of a statistical method. The main provisions of the method are that a one-time sample of N values of the diagnostic parameter was considered for representatives of the set of diagnostic objects (both serviceable and faulty). At the same time, it was assumed that the values corresponding to the serviceable state would obey a different pattern than the values corresponding to the faulty one. Having singled out the distribution function f(S) of the parameter values for the healthy state of the object from the total population, the range of acceptable values of the diagnostic parameter in operation can be limited by some limiting dispersion relative to the nominal (reference) value of the parameter. For the braking system affecting traffic safety, the restriction was applied with 85% probability. The values were found for the entire range of diagnostic parameters. In the course of the study, the maximum permissible values of diagnostic parameters were determined. A diagnostic matrix of the main brake cylinder has been built. An algorithm for making a diagnosis has been developed. The scientific novelty lies in the difference in their implementation in the range of service braking, which makes it possible to maximize the informative possibility of each of the diagnostic parameters.

Like many countries, Ukraine faces challenges with diagnosing tuberculosis (TB) in children due to the paucibacillary nature of the disease and difficulty obtaining respiratory samples. To improve diagnostic efficiency, stool testing is being integrated into routine pediatric TB services. This started with a pilot introduction at 12 regional TB facilities, where stool was collected for children with a preliminary diagnosis of TB, based on clinical and/or radiological or laboratory findings, in addition to routine testing. For 168 children, a stool test was conducted between November 2021 and September 2022, with samples submitted in all 12 pilot regions. For 132 children, other samples were available in addition to stool. Mycobacterium tuberculosis (MTB) was bacteriologically confirmed in 37 children (in stool for 18 children). For 7 of the 18 children with MTB in stool, stool was the only sample in which MTB was detected. Rifampicin resistance was detected in seven children (in stool for three). This noninvasive TB diagnostic sample is especially beneficial for young children who cannot produce sputum. Early detection of TB and its drug-resistant strains in children will allow medical workers to provide safer and more effective treatment and save more lives. Based on the pilot implementation, Ukraine’s national TB program began implementing stool testing throughout the country.

Intestinal ultrasound (IUS) has recently become the imaging technique of choice for patients with different types of intestinal inflammation. IUS has a high sensitivity, specificity, positive predictive value, and negative predictive value when diagnosing Crohn’s disease or ulcerative colitis. Further, it is now the preferred imaging modality for routine IBD reevaluations because of its non-invasiveness, cost-effectiveness, availability (at least in Europe), and reproducibility in all age groups. However, the clinical success of IUS requires IUS training for doctors and technicians who perform IUS with a standardised description of ultrasound findings of the terminal ileum and entire colon. Complications such as abscess formation, fistulae, and stenosis can be detected by either conventional IUS or contrast-enhanced ultrasound (CEUS). Lately, several disease activity scores have been proposed for Crohn’s disease, postoperative Crohn’s disease, and ulcerative colitis both in adults (including elderly) and in children. IUS was successfully used in randomised clinical trials in order to measure the treatment response. Therefore, IUS now plays a central role in clinical decision making.

Background. Currently, the issues of diagnosis and treatment of patients with dentoalveolar injuries combined with temporomandibular joint disorders are highly relevant due to a progressive increase in the number of cases of this pathology among the population. Despite the availability of the comprehensive methodology in diagnostics of dentoalveolar injuries, dentists lack standardized algorithms for effective examination and systematization of the data obtained in the diagnostics of such groups of patients, which is necessary for personalized planning and pathogenetic therapy. The authors present the algorithm they developed for comprehensive assessment of dentoalveolar injuries in patients with temporomandibular joint disorders.Case descriptions. The paper presents clinical cases of two patients with abnormal occlusion associated with temporomandibular joint disorder. The patients underwent a comprehensive morphofunctional examination of the dentoalveolar complex in accordance with the diagnostic algorithm patented by the authors, including following methods: clinical (interview, examination), anthropometric (anthropometry of dentition), radiological (cone-beam computed tomography, magnetic resonance imaging of the temporomandibular joint), functional (surface electromyography of the masticatory muscles, computer kinesiography, electro-vibrography, ultrasound examination of the temporomandibular joint), to make the final diagnosis and to determine the order and scope of treatment.Conclusion. The authors presented and proved clinically the algorithm of morphofunctional diagnostics for the dento-alveolar complex of patients with temporomandibular joint disorders, combining clinical, anthropometric, radiological and functional methods of examination, which allow the most dento-alveolar characteristics to be considered in order to make the main diagnosis and a personalized treatment protocol for such groups of patients

Resumen: La incidencia y el riesgo global de las infecciones de dispositivos de electroestimulación cardiaca (DEC) ha aumentado de manera exponencial en los últimos años con el incremento de implantes sobre una población más envejecida, que presenta más comorbilidades. La identificación de estas infecciones continúa siendo un reto por su amplia variabilidad de presentación clínica y complejidad del proceso diagnóstico. Hasta ahora, el uso de la ecocardiografía transesofágica (ETE) ha sido la técnica diagnóstica de elección. Sin embargo, la reciente incorporación de la tomografía por emisión de positrones/tomografía computarizada con 18F-Fluorodesoxiglucosa ([18F]FDG-PET/TC) ha supuesto un notable avance en este campo. La combinación de ambas técnicas permite incrementar considerablemente el diagnóstico de la afectación endovascular e intracardiaca y optimizar, por tanto, el posterior manejo terapéutico de estas infecciones. En esta revisión, presentamos un enfoque basado en las últimas evidencias publicadas en la literatura para el diagnóstico de la infección de DEC. Abstract: The incidence of cardiac implantable electronic device (CIED) infections has increased remarkably in recent years, with the higher implantation rate in an older population with more comorbidities. Diagnosing CIED infection is challenging due to the wide variability of clinical presentation and the complexity of the diagnostic process. To date, transesophageal echocardiography (TEE) has been the key in the diagnostic algorithm process. However, the recent introduction of 18F-Fluorodeoxyglucose positron emission tomography/computed tomography ([18F] FDG-PET/CT) has brought notable progress in this field, especially in local CIED infections. Nevertheless, combining both techniques increase the diagnosis yield on endovascular and intracardiac-lead systemic infections. In this review, we present an approach based on the latest evidence published in the literature to diagnose CIED infection.

Caudal regression syndrome (CRS) is a rare inherited disorder associated with orthopedic deformities, as well as urological, anorectal, and spine malformations. We present 3 cases of CRS found in our hospital, along with the respective radiologic and clinical findings of the disease. With different problems and chief complaints from each case, we propose a diagnostic algorithm that can be used as a helpful tool in managing CRS. CRS is a complex and rare congenital disorder that affects multiple systems and can result in a range of malformations. The diagnostic algorithm proposed from our findings from 3 CRS cases is important to help healthcare providers identify the types of CRS and apply a more individualized approach to improve the quality of life for the patient.

BackgroundUlcus Vulvae Acutum Lipschütz (UVAL) is a largely unknown disease with a broad and complex differential diagnosis.ObjectivesTo provide a description of the main characteristics of UVAL, determine the most appropriate diagnostic process and describe the current therapeutic approach.MethodsWe designed a retrospective, descriptive cohort study using the gynecological-ER database of our institution. Inclusion criteria: female patients aged between 10 and 20 years old with suspicion of a UVAL diagnosis at CHUV's gynecological ER. Data extraction: epidemiological characteristics, clinical presentation, laboratory tests, established diagnostics, treatment, and ulcer outcomes.Results15 patients were included for the analysis; average age: 15 years old; 60% of patients were virgo at the time of ulcer onset; all patients had at least one flu-like symptom concomitant with the vulvar lesion; the most-performed serology was for EBV and acute disease was present in only one patient; for diagnostic purposes two biopsies were performed with both inconclusive histopathology analysis; the main prescribed treatments were: oral NSAIDs, Paracetamol, and Lidocaine gel; 93% of cases presented signs of regression; the average follow-up time was 10 days. The diagnostic algorithm of Sadoghi et al: 10 out of 15 cases were retrospectively diagnosed with UVAL by the algorithm; half were diagnosed with UVAL, and the other half received a diagnosis of “ulcers of unknown origin” at the time of the gynecological ER visit.ConclusionsWe highly recommend the diagnostic and therapeutic algorithms developed by Sadoghi et al. as valuable tools to guide clinical reasoning and, consequently, improve acute vulvar ulcers management.

Simple Summary: In the present review, we illustrate the interests of molecular pathology for establishing an integrated histomolecular diagnosis of ovarian sex cord–stromal tumors as well as its use for prognosis and treatment. We discuss the key morphological, immunohistochemical and molecular features of each entity, as well as their respective differential diagnoses. This review is organized from the predominant cell morphology to the molecular pathology, based on a practical point of view for the pathologist. Five groups are defined: (i) Group 1: predominance of fibromatous/thecomatous cells and/or stromal cells of unusual morphology; (ii) Group 2: predominance of steroid or luteinized cells; (iii) Group 3: predominance of follicular cells; (iv) Group 4: predominance of Sertoli cells; and (v) Group 5: predominance of sarcomatoid/unclassified/poorly differentiated cells. Diagnostic algorithms are proposed to differentiate each entity within the sex cord–stromal tumor category, and the contribution of molecular pathology for diagnostic purposes is discussed. Ovarian sex cord–stromal tumors (SCSTs) account for 8% of all primary ovarian neo-plasms. Accurate diagnosis is crucial since each subtype has a specific prognostic and treatment. Apart from fibrosarcomas, stromal tumors are benign while sex cord tumors may recur, sometimes with a significant time to relapse. Although the diagnosis based on morphology is straightforward, in some cases the distinction between stromal tumors and sex cord tumors may be tricky. Indeed, the immunophenotype is usually nonspecific between stromal tumors and sex cord tumors. Therefore, molecular pathology plays an important role in the diagnosis of such entities, with pathognomonic or recurrent alterations, such as FOXL2 variants in adult granulosa cell tumors. In addition, these neoplasms may be associated with genetic syndromes, such as Peutz–Jeghers syndrome for sex cord tumors with annular tubules, and DICER1 syndrome for Sertoli–Leydig cell tumors (SLCTs), for which the pathologist may be in the front line of syndromic suspicion. Molecular pathology of SCST is also relevant for patient prognosis and management. For instance, the DICER1 variant is associated with moderately to poorly differentiated SLCTS and a poorer prognosis. The present review summarizes the histomolecular criteria useful for the diagnosis of SCST, using recent molecular data from the literature. [ABSTRACT FROM AUTHOR]

The widespread variation in diagnosing primary headache disorders in children and adolescents results in reduced quality and high costs. Defining an algorithm for primary headache diagnoses in children and adolescents is part of a larger initiative to standardize and improve care. The aim of this algorithm was to increase the accuracy of headache diagnosis by formal criteria to more than 80% of patient encounters. A team of headache specialists, nurse practitioners, nurses, data analysts, and business specialists developed an algorithm based on available scientific evidence. This algorithm was vetted and adapted by the neurology faculty and headache specialists until final consensus was reached. Following three months of testing and validation, the algorithm was disseminated to general pediatric neurology clinics. The following information was gathered: percent of encounters utilizing the algorithm, percentage of encounters with appropriate diagnosis by formal criteria, percentage of encounters with appropriate testing ordered, and average cost per headache visit. Correct diagnosis of primary headache by International Classification of Headache Disorders-3 criteria improved from 72% to 90% and appropriate testing improved from 80% to 94%. By the end of analysis, 94% of encounters were correctly implementing the algorithm. A year-long tracking revealed decreased cost of headache evaluation by 6% compared with the year prior. A standardized algorithm improved the diagnostic accuracy in general child neurology clinics. Expanding the algorithm to primary care and pediatric emergency rooms could have a greater impact on headache evaluation and diagnosis; this should result in improved care and outcomes with reduced cost. [ABSTRACT FROM AUTHOR]

Background and Objectives: Diagnosis of dementia subtypes caused by different brain pathophysiologies, particularly Alzheimer's disease (AD) from AD mixed with levels of cerebrovascular disease (CVD) symptomology (AD-CVD), is challenging due to overlapping symptoms. In this pilot study, the potential of Electrovestibulography (EVestG) for identifying AD, AD-CVD, and healthy control populations was investigated. Materials and Methods: A novel hierarchical multiclass diagnostic algorithm based on the outcomes of its lower levels of binary classifications was developed using data of 16 patients with AD, 13 with AD-CVD, and 24 healthy age-matched controls, and then evaluated on a blind testing dataset made up of a new population of 12 patients diagnosed with AD, 9 with AD-CVD, and 8 healthy controls. Multivariate analysis was run to test the between population differences while controlling for sex and age covariates. Results: The accuracies of the multiclass diagnostic algorithm were found to be 85.7% and 79.6% for the training and blind testing datasets, respectively. While a statistically significant difference was found between the populations after accounting for sex and age, no significant effect was found for sex or age covariates. The best characteristic EVestG features were extracted from the upright sitting and supine up/down stimulus responses. Conclusions: Two EVestG movements (stimuli) and their most informative features that are best selective of the above-populations' separations were identified, and a hierarchy diagnostic algorithm was developed for three-way classification. Given that the two stimuli predominantly stimulate the otholithic organs, physiological and experimental evidence supportive of the results are presented. Disruptions of inhibition associated with GABAergic activity might be responsible for the changes in the EVestG features. [ABSTRACT FROM AUTHOR]

We report a rare case of Sjogren's syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient evidence linking the two diseases. Here, we review existing diagnostic algorithms for diagnosing diffuse cystic lung disease and provide new insights. The patient initially complained of thirst and dry eyes for ten years, and gradually developed shortness of breath. After admission, physical examination showed five missing teeth, decreased respiratory sounds in both lower lungs, and Velcro rales. Computed tomography showed multiple thin-walled cystic lesions in both lungs. Initial xerophthalmia and labial gland biopsy seemed to reveal a pulmonary cystic change associated with Sjogren's syndrome. Before discharge, a rash suspected to indicate a fibrofollicular tumor in the neck was observed, and then FLCN variant has been found. The challenges how to clarify the diagnosis of DCLD causes are discussed. [ABSTRACT FROM AUTHOR]

Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next‐generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases. [ABSTRACT FROM AUTHOR]

Background: Relaxation, restoring forces, myocardial stiffness and atrial function determine left ventricular (LV) diastolic function. This study aims to provide a comprehensive assessment of diastolic function in preterm infants using conventional echocardiography and speckle tracking imaging and determine the diagnostic accuracy of various algorithms to detect high left atrial pressure (LAP). Methods: Preterm infants received an echocardiogram 1 week after birth and diastolic reference values were derived from the outer percentiles of stable preterm infants. Impaired relaxation, LV stiffness and high LAP were defined by using algorithms where at least half of the parameters were outside the normal range. Diastolic function was graded using the 2016 American Society of Echocardiography algorithm and expanded with the EA ratio and left atrial strain. The diagnostic accuracy of various algorithms to detect high LAP was determined with sensitivity analysis. Results: We studied 146 infants (59 stable) with a mean of 27(1) weeks gestation. Impaired relaxation, LV stiffness and high LAP were found in 8%, 7%, and 14% of infants. The patent ductus arteriosus was a contributing factor to high LAP and LV stiffness, not impaired relaxation. Diagnostic accuracy improved from 90% to 96% and sensitivity from 40% to 90% by adding left atrial strain to the 2016 algorithm. Conclusion: Various grades of diastolic dysfunction could be appreciated in preterm infants using a multi‐parameter approach. Adding left atrial strain improved sensitivity to detect infants with high LAP. [ABSTRACT FROM AUTHOR]

Invasive pulmonary aspergillosis (IPA) presents a known risk to critically ill patients with SARS-CoV-2; quantifying the global burden of IPA in SARS-CoV-2 is extremely challenging. The true incidence of COVID-19-associated pulmonary aspergillosis (CAPA) and the impact on mortality is difficult to define because of indiscriminate clinical signs, low culture sensitivity and specificity and variability in clinical practice between centers. While positive cultures of upper airway samples are considered indicative for the diagnosis of probable CAPA, conventional microscopic examination and qualitative culture of respiratory tract samples have quite low sensitivity and specificity. Thus, the diagnosis should be confirmed with serum and BAL GM test or positive BAL culture to mitigate the risk of overdiagnosis and over-treatment. Bronchoscopy has a limited role in these patients and should only be considered when diagnosis confirmation would significantly change clinical management. Varying diagnostic performance, availability, and time-to-results turnaround time are important limitations of currently approved biomarkers and molecular assays for the diagnosis of IA. The use of CT scans for diagnostic purposes is controversial due to practical concerns and the complex character of lesions presented in SARS-CoV-2 patients. The key objective of management is to improve survival by avoiding misdiagnosis and by initiating early, targeted antifungal treatment. The main factors that should be considered upon selection of treatment options include the severity of the infection, concomitant renal or hepatic injury, possible drug interactions, requirement for therapeutic drug monitoring, and cost of therapy. The optimal duration of antifungal therapy for CAPA is still under debate.

Introduction: Acute encephalitis syndrome (AES) refers to a symptom complex that may be caused due to a wide range of etiologies. Outbreaks of AES have occurred in the recent past contributing to significant morbidity and mortality. Identification of the etiology of AES will help in early treatment and containment of outbreaks. Objective: To assess the need for a diagnostic algorithm for AES and to develop a prototype algorithm for AES to be used in the region. Materials and Methods: Secondary data regarding AES from the surveillance unit of our institution was used. In addition, focus group discussion with stakeholders involved in the diagnosis, treatment, and surveillance of AES was done to identify the challenges in diagnosis and develop an algorithm for AES to be used in the region. Results and Discussion: Of the 767 AES cases reported during the study period, only 38% had a confirmatory diagnosis. Common viral etiologies included herpes simplex virus and adenovirus. Rare etiologies viz Nipah and West Nile were also documented. The varied etiologies pose challenges in diagnosis as multiple tests are required. A diagnostic algorithm was developed, taking into consideration the facilities available. Challenges in diagnosis are due to infrastructural shortcomings like lack of point-of-care tests and the nonavailability of viral panels for simultaneous testing for pathogens. Conclusion: Region-specific diagnostic algorithm may be developed taking into consideration of the common etiological agents in the region, which will help in the early identification of outbreaks and help in the institution of containment measures