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Yuanyuan Cheng,* Tengfei Qi,* Xin Gu Department of Sexually Transmitted Disease, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, People’s Republic of China*These authors contributed equally to this workCorrespondence: Xin Gu, Department of Sexually Transmitted Disease, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, No. 1278 Baode Road, Shanghai, 200443, People’s Republic of China, Tel +86-18017336858, Email gx3014@163.comAbstract: Syphilis is a complex, systemic infectious disease caused by Treponema pallidum subspecies pallidum. Secondary syphilitic lesions typically manifest within 3 months following initial exposure to T. pallidum. The predominant cutaneous manifestations of secondary syphilis are macula and papule. Certain individuals with syphilis may present with an atypical rash during the secondary stage owing to immunosuppression and other factors. Herein, we report a rare case of atypical recurrent secondary syphilis around the anus in a 65-year-old woman. Based on cerebrospinal fluid findings and skin biopsy results, the patient was ultimately diagnosed as neurosyphilis and recurrent secondary syphilis. Following intravenous antibiotic therapy, the patient’s rash improved significantly. This case underscores the importance for physicians to remain vigilant regarding the possibility of syphilis when encountering cases exhibiting unusual clinical manifestations, as a definitive diagnosis necessitates a comprehensive evaluation.Keywords: recurrent secondary syphilis, perianal annular rash, neurosyphilis, definitive diagnosis

• 13 rare LDLR missense variants were functionally characterised. • Our results identified 11 additional functionally abnormal LDLR variants. • 22 patients received a definite diagnosis with the new functional data. Familial Hypercholesterolemia (FH) is a semidominant disorder of the lipid metabolism associated with premature atherosclerosis and coronary heart disease. So far, about 3,000 unique LDLR variants have been described, most of which lack functional evidence proving their effect on LDLR function, despite the important role that functional studies play in variant classification. In this work, we aimed to functionally characterize 13 rare missense variants, identified worldwide and in Portugal, in clinical FH patients. LDLR -deficient CHO-ldlA7 cells were transfected with plasmids carrying different LDLR variants generated by site-directed mutagenesis. LDLR activity and expression were assessed by FACS. 11/13 variants affect LDLR function (p.Cys109Phe; p.Cys143Arg; p.Glu267Lys; p.Cys352Ser; p.Ile451Thr; p.His485Gln; p.Asp492Asn; p.Val500Ala; p.Gly529Arg; p.Phe614Ile; p.Glu626Lys) and 2/13 are inconclusive (p.Arg81Cys; p.Gly98Arg;). Of the 13 variants studied, 8 were classified as VUS by ACMG criteria, but for 7 of these 8, our functional studies were able to reassign them as Likely pathogenic or Pathogenic. For an accurate diagnosis, an effort must be made to improve functional characterization of putative disease-causing variants. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia 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.)

Prostatic stromal tumors, encompassing prostatic sarcoma and stromal tumors of uncertain malignant potential (STUMP), represent an exceedingly rare category of prostatic diseases, with a prevalence of less than 1%. We present a rare case involving a man in his early 40s diagnosed with STUMP. Despite presenting with normal prostate-specific antigen (PSA) concentrations, the patient experienced persistent dysuria and gross hematuria for >7 months, leading to an initial misdiagnosis of benign prostatic hyperplasia. Persistent symptoms prompted further investigation, with magnetic resonance imaging (MRI) revealing a suspicious lesion on the left side of the prostate, initially thought to be malignant. Transrectal prostatic biopsy subsequently confirmed the presence of mucinous liposarcoma, with no medical history of diabetes, coronary heart disease, or hypertension. The treatment approach comprised robot-assisted laparoscopic radical prostatectomy, culminating in a postoperative pathological definitive diagnosis of STUMP. This case underscores the indispensable role of early MRI in the diagnostic process, highlighting the necessity of detailed pathological examination for a conclusive diagnosis. Our report aims to illuminate the diagnostic challenges and potential treatment pathways for STUMP, emphasizing its consideration in the differential diagnosis of prostatic tumors to advance clinical outcomes in this rare but important condition., Competing Interests: Declaration of conflicting interestsThe authors declare that there is no conflict of interest.

Introduction: Liver biopsy is the gold-standard test for the diagnosis of diseases involving the liver. An adequate sample and an accurate reading of the report are key to determine the usefulness of the test and its impact on decision-making. Objective: To assess the quality of liver biopsies based on the frequency of a "definitive diagnosis" in their report and their association with the number of portal spaces and reported length. Materials and methods: Record-based retrospective observational study, from January 1, 2010, to July 30, 2017. A review of the medical records of patients who underwent liver biopsy was performed, and the pathology result was evaluated. Results: 659 pathology reports from 10 hospitals were included. The percentage of portal space reporting varied between 15% and 87.4%. The median biopsy length was 15mm (IQR: 10-20) and the median number of portal spaces was 10 (IQR: 7-15). Definitive diagnoses were between 35% and 69%, probable diagnoses between 25% and 63%, and no diagnosis between 5% and 31.8%. The logistic regression of the diagnosis and a univariate analysis found that the number of portal spaces had an OR of 1.12 (95%CI: 1.05-1.19), while length had an OR of 1.74 (95%CI: 1.06-2.87). The multivariate analysis showed that the number of portal spaces is significant [OR: 1.12 (95%CI:1.02 to 1.22), p = 0.011]. Conclusions: In Bogotá, there are 3 hospitals with adequate pre-analytical quality of liver biopsies and definitive diagnoses above 60%, which in this series is associated with the presence of a cylinder of liver tissue of adequate length and the number of portal spaces. Multivariate analysis showed that the number of portal spaces is significant. The importance of the experience and training of the pathologist who evaluates the biopsy is stressed. [ABSTRACT FROM AUTHOR]

This study aimed to depict the emotional journey of Japanese patients with specific intractable diseases facing challenges associated with a delayed diagnosis. Specifically, our focus was on elucidating the emotional journey of patients and identifying the unmet needs caused by a delayed diagnosis. We conducted a web-based survey targeting 179 patients with 11 specified intractable diseases. They reported their emotional states during each journey phase using a 10-point scale. The results revealed that the period from noticing bodily changes to clinic visits was characterized by the most negative emotional states. Furthermore, the patients experienced a gradual shift towards positive emotional states as they decided to complete a consultation at a specialized hospital. They reached their most positive emotional states when they received a definitive diagnosis, subsequent treatment, and care. The thematic classification of emotional changes at the time of definitive diagnosis showed that "relief" was the most prevalent emotion (41.9%), followed by "no change" (19.9%), "anxiety" (14.0%), "shock" (13.4%), and "resignation" (6.5%). Additionally, when classifying the thematic changes in emotions during the period of bodily changes and clinic visits, "frustration" was the most common (51.3%), followed by "fear and anxiety" (43.6%). Patients tended to be most psychologically distressed during the period leading up to the definitive diagnosis. These results reveal that patients with intractable diseases are seeking a fast and accurate diagnosis, and that achieving these is a key unmet need for the patients., Competing Interests: None.The authors have no conflicts of interest to disclose., (2024, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.)

OBJECTIVES: Undiagnosed pleural effusions mostly require histologic studies for a definite diagnosis. In addition, malignant pleural effusions responsible for a significant part of exudative pleurisy need palliative therapy The purpose of our study is to research the effectiveness of video-assisted thoracoscopic surgery in definitive diagnosis and palliative treatment of unexplained non-parapneumonic exudative pleural effusions. MATERIALS AND METHODS: The study included 263 patients with non-parapneumonic exudative pleurisy, which could not be diagnosed by an initial clinical, radiological, biochemical, microbiological, and cytological investigation in three centers. All patients underwent video-assisted thoracoscopic surgery for definitive diagnosis between January 2002 and January 2018. Patients' data were retrospectively analyzed in terms of age, gender, symptoms, previously diagnosed cancers, computerized tomography of chest findings, histopathological diagnosis, cytological diagnosis, morbidity, mortality, and success rates of the procedure. Patient groups from the three centers were divided into three groups according to the center of the patient. The groups were compared statistically in terms of cytologic diagnosis rates. RESULTS: The most common complaint was dysnea (66.5%). Of the 263 cases, 83 were previously diagnosed with cancer. The simple pleural effusion (66.5%) was the most frequent radiological finding. The success rate for definitive diagnosis was detected as 97%. Of all the cases, the rate of specific cytological diagnosis was detected to be 34%. The cytologic diagnosis rate was meaningfully lower in Group 1than in Groups2 and 3. The postoperative morbidity rate was detected as 9%. CONCLUSION: Video-assisted thoracic surgery is not only a rapid and effective diagnostic method, but also a palliative therapeutic method. We think that it should be used immediately after initial diagnostic thoracentesis in undiagnosed exudative PEin the less experienced centers [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Patients with haematological malignancies usually have a plethora of respiratory complications. Bronchoscopy is one of the most important procedures used to diagnose respiratory complications. Despite enormous benefit, patients should be carefully selected for bronchoscopy as the process is invasive; however, there are only few reports evaluating the contributing factors of bronchoscopy that result in the definitive diagnosis of respiratory complications in these patients. Objective: This study aimed to elucidate and identify the contributing factors of bronchoscopy for definitive diagnosis in patients with haematological malignancies. Methods: We retrospectively analysed 275 patients with haematological malignancies who later showed respiratory complications, requiring consultation with pulmonologists. We found that 62 patients underwent bronchoscopy. Our data analysis focused on this particular subset of patients to identify the factors crucial for definitive diagnosis via bronchoscopy. Results: Bronchoscopy provided definitive diagnosis for 25 patients (diagnostic yield = 40.3%). We determined that nodular shadow was associated with high diagnostic yields by multivariate logistic regression [odds ratio (OR): 6.6 (2.1‐23)]. Furthermore, in several bronchoscopic procedures, biopsy also contributed to definitive diagnosis of patients with nodular shadow [OR: 17 (1.5‐180)]. Life‐threatening complications were not observed due to bronchoscopy in our study. Conclusions: Our study demonstrated that patients with haematological malignancies who showed lung nodular shadows are more likely to be definitively diagnosed by bronchoscopy, whereas transbronchial biopsy may also be beneficial for these patients. [ABSTRACT FROM AUTHOR]

Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD deficiency were rarely described. Herein, for the first time, we reported the clinical features, BTD gene mutations and their functional studies of eight symptomatic children with BTD deficiency from southern China. Fatigue, hypotonia, proximal muscular weakness, hearing deficits, rash and respiratory problems are common clinical phenotype of our patients. Seizures are observed only in patients with profound BTD deficiency. Five novel mutations were detected, among which c.637delC (H213TfsTer51) was found in 50% of our patients and might be considered as a common mutation. In vitro studies confirmed three mild mutations c.1368A>C (Q456H), c.1613G>A (R538H), and c.644T>A (L215H) which retained 10–30% of wild type enzyme activity, and six severe mutations c.235C>T (R79C), c.1271G>C (C424S), c.1412G>A (C471Y), c.637delC (H213TfsTer51), c.395T>G (M132W), c.464T>C (L155P), and c.1493dupT (L498FfsTer13) which retained <10% of wild type enzyme activity. c.1330G>C (D444H) decreased the protein expression but not activity of BTD enzyme, and H213TfsTer51 was structurally damaging while L498FfsTer13 was functionally damaging. These results will be helpful in establishing the definitive diagnosis of BTD deficiency at the gene level, offering appropriate genetic counseling, and providing clues to structure/function relationships of the enzyme. [ABSTRACT FROM AUTHOR]

Problema científico: ¿Cómo se ha comportado la Muerte Súbita Cardíaca en las áreas de salud del Municipio Arroyo Naranjo, en Ciudad de La Habana durante el período 2000-2004? Propósito: Describir el comportamiento de la Muerte Súbita Cardíaca en las áreas de salud del Municipio Arroyo Naranjo, en Ciudad de La Habana durante el período 2000- 2004. Material y Método: Se realiza un estudio epidemiológico en una población de 210000 habitantes en las áreas de salud de la municipalidad de Arroyo Naranjo (Julián Grimau, Eléctrico, Párraga, Mantilla, Capri, Los Pinos y Managua), con un seguimiento de 5 años. Participaron el Grupo Cubano para el Estudio de la Muerte Súbita Cardíaca (GEMSC), el Centro de Investigaciones y Referencias de Aterosclerosis de La Habana (CIRAH) y la Universidad de Ciencias Médicas "Julio Trigo López". El estudio SUCADES I (SUdden CArdiac DEath Study) incluyó 5 098 fallecidos de muerte natural, a quienes se les aplicó los criterios de Muerte Súbita Cardiaca (MSC) de la Organización Mundial de la Salud (OMS). Resultados: El 9.3 % de las muertes estudiadas acontecieron de forma súbita. El 50.6 % de los eventos se manifestó en el sexo masculino, en edades de 60-74 años. La localidad de Párraga resultó la más afectada (23.4 %). El domicilio de la víctima fue el lugar de ocurrencia de 35.0 % de los eventos. El Infarto agudo del miocardio (IAM) se corroboró en 58.4 %. Conclusiones: Existió un predominio de la Muerte Súbita Cardíaca en el sexo masculino, en el grupo de 60-74 años, en el área de salud de Párraga, documentándose con mayor frecuencia en el medio extrahospitalario (domicilio de la víctima). El Infarto agudo del miocardio, los trastornos del ritmo cardíaco y la disfunción miocárdica ventricular izquierda constituyeron los principales diagnósticos definitivos.Scientific Problem: How has the Sudden Cardiac Death behaved on the Clinical-Pathological bases in Arroyo Naranjo communities, in Havana City during the period 2000-2004?Objective:To describe the Sudden Cardiac Death behavior in the Arroyo Naranjo communities, in Havana City during the period 2000-2004. Material and method: An epidemiologic study was carried out in a population of 210000 inhabitant in the health areas of the Arroyo Naranjo municipality (Julián Grimau, Eléctrico, Párraga, Mantilla, Capri, Los Pinos y Managua), followed for 5 years. The Cuban Group for the Sudden Cardiac Death Study (GEMSC), The Research and Reference Center for Aterosclerosis from Havana (CIRAH) and the Medical Sciences Faculty "Julio Trigo López" took part. The SUCADES I study (SUdden CArdiac DEath Study) included 5098 dead of natural causes, to which the criteria of Sudden Cardiac Death (MSC) from the World Health Organization (OMS) were applied. Results:The 9.3 % of the deaths studied happened in a sudden way. The 50.6 % of the events occurred in the male sex, in ages between 60-74 years old. Párraga was the most affected area (23.4 %).The victim's house was the place where the 35.0% of the events happened. The acute myocardial infarct (AMI) was corroborated in the 58.4 %. Conclusions: Sudden Cardiac Death was predominant in the male sex, in the group between 60-74 years old, in Párraga's health area, most frequently documented in the extra hospital media (victim's house). The acute myocardial Infarct, the cardiac rhythm troubles and the left ventricular myocardial dysfunction constituted the main definitive diagnosis.

Copyright of Der Pathologe 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.)

Background: Narcolepsy (NA) is a sleep disorder characterized by excessive daytime sleepiness and an increased propensity of rapid eye movement sleep. If left untreated, NA can lead to academic underachievement or job loss because of dozing off or mistakes caused by inattentiveness due to sleepiness. Purpose: Although untreated narcolepsy patients may suffer from many social disadvantages due to excessive daytime sleepiness, mostly it takes a long time to receive a definitive diagnosis of the disorder. This retrospective study investigated factors related to the period until definitive diagnosis among patients with narcolepsy in Japan. Methods: We enrolled 181 consecutive patients (108 men, 73 women; mean age 37.6 ± 16.6 years old; narcolepsy with cataplexy/narcolepsy without cataplexy = 131:50). Multivariate logistic regression analysis was performed with period until definitive diagnosis as the dependent variable and descriptive clinical variables as the independent variables. Results: The mean period until receiving the diagnosis among the participants was 9.9 ± 10.1 years. More than half of the patients first learned about the disorder from information provided by the media. Multivariate logistic analysis indicated that adult onset ( p < 0.01), onset in 1995 or later ( p < 0.001), and first learning about the disorder from a sleep disorder specialist physician or a general practitioner ( p < 0.001) were associated with a time taken for receiving a definitive diagnosis less than or equal to the median value (7 years). Conclusion: Improving access to information about the concept of the disorder and the medical institutions specialized in sleep disorders, especially via the Internet, would be necessary to promote early diagnosis of the disorder. [ABSTRACT FROM AUTHOR]

Introduction: A case of mucosa-associated lymphoid tissue (MALT) lymphoma, the most frequent of the various conjunctival lymphoproliferative disorders, in which the initial biopsy was inconclusive but the second biopsy provided a definitive diagnosis, is reported. Case Report: A 26-year-old woman with a 3-month history of bilateral conjunctival swelling was referred by a local physician for suspected MALT lymphoma. A salmon-pink elastic swelling was found to involve both eyes and to extend from the lower palpebral conjunctiva to the bulbar conjunctiva. Tonsillar swelling was also found, and ophthalmologic (left eye) and otolaryngologic biopsies were therefore performed simultaneously under general anesthesia. The otolaryngologic diagnosis was chronic tonsillitis. Light microscope examination of the conjunctival tissue showed proliferation of lymphocytes and small aggregates of small to medium-sized atypical lymphocytes. On immunohistochemical studies, atypical lymphocytes were positive for CD20 and CD79a, but differentiation to plasmacytes was not prominent, and neither Dutcher bodies nor evidence of immunoglobulin light chain restriction was found. The results were not incompatible with MALT lymphoma but were not definitive. A second biopsy of the right eye was therefore performed 3 months later. Staining with hematoxylin and eosin showed proliferation of small lymphocytes and monocytoid B cells and differentiation to plasmacytes. The hyperplastic cells were positive for CD19, CD79a, and CD20, and their cytoplasm were positive for Bcl-2 and slightly positive for Bcl-6. Cells positive for CD38 were noted where differentiation to plasmacytes and immunoglobulin light chain ? restriction was evident on immunohistochemical studies and in situ hybridization. The Ki-67-positivity rate was approximately 5%. The results of paraffin-embedded tissue section fluorescence in situ hybridization were negative for MALT-1 (18q21). A diagnosis of MALT lymphoma was made, and treatment with rituximab was started. Discussion: Few findings lead directly to a definitive diagnosis of MALT lymphoma, and its differential diagnosis from benign lymphoproliferative disorders is difficult. In the present case definitive diagnosis was possible only after a second biopsy. This case suggests repeated biopsy may be necessary when a single biopsy is not definitive. [ABSTRACT FROM AUTHOR]

Objective: The purpose of the study was to evaluate the clinical history, physical examination, cause of abdominal pain, laboratory and radiological examination of the patients admitted with acute abdominal pain in emergency surgery. Additionally, the first diagnosis according to the symptoms and physical examination, secondary diagnosis according to the laboratory and radiological findings and final diagnosis after follow up were compared. Materials and Methods: From April 2009 to February 2009, nine-hundred fifty-seven patients with complaints of abdominal pain were admitted to emergency surgery. Patients were first diagnosed according to symptoms and physical examination, secondary diagnosis according to the laboratory and radiological findings and finally diagnosed after follow up for one month. First, secondary and final diagnoses were compared for compliance. Results: 40.1% of the patients were men and 59.9 were women. Sixty-eight patients (7.1%) underwent urgent surgical treatment. Sixty-five patients (6.8%) were discharged after medical treatment. Seventy-seven patients (8.1%) were treated in the observation room. Compliance rate of the secondary diagnosis with first diagnosis was 66.5%, first diagnosis with definitive diagnosis was 64.1%, secondary diagnosis with definitive diagnosis was 93.4% and finally the compliance rate of the three diagnoses was 63.5%. Conclusion: Compliance rate of first diagnosis with definitive diagnosis was 64,1% and the second diagnosis with definitive diagnosis was 93.4%. [ABSTRACT FROM AUTHOR]

Background and Purpose: Knee injuries are frequently seen in the accident and emergency (A&E) department. A prospective study was carried out to investigate the reliability of the initial diagnosis of knee injuries made in the A&E department. Patients and Methods: All patients (n = 425) who presented at the A&E Department of the Red Cross Hospital in the Hague, the Netherlands, in 1996 with a knee injury were clinically examined and an X-ray was obtained. The patients were reviewed in the outpatient clinic after 4 days and then at 6 weeks. At these times, patients were referred to the orthopedic outpatient clinic for further investigation and treatment as indicated. After 5 years, a final evaluation was undertaken. Results: After 6 weeks, the subsequent diagnosis was found to differ from the initial one in 6% of cases. This finding had no further consequences with regard to prognosis. After 5 years, all patients were approached by telephone. In total, 94% of the patients were contacted and of these, three patients (1%) had been re-referred to the orthopedic outpatient clinic. The final diagnosis of these three patients was different to the initial diagnosis. Of these patients, one needed an arthroscopy,the other two received conservative treatment. Conclusion: The study found that i% of knee injuries were misdiagnosed at the A&E department. It is there- fore beneficial to review patients with knee injuries in the outpatient clinic after 4 days. [ABSTRACT FROM AUTHOR]

A rare case of primary tuberculosis of the submandibular gland is reported here which required surgical gland excision for definitive diagnosis. It is presented in view of its rarity, the extreme difficulty in the diagnosis of this kind of disease and highlighting the importance of histopathological examination. [ABSTRACT FROM AUTHOR]

Clinical, radiological, and genetic classifications of 113 cases of malformations of cortical development (MCD) were evaluated at the Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.

Abstract: We communicate the diagnosis by microscopy of a pulmonary coinfection produced by Cryptococcus neoformans and Pneumocystis jiroveci, from a respiratory secretion obtained by bronchoalveolar lavage of an AIDS patient. Our review of literature identified this coinfection as unusual presentation. Opportunistic infections associated with HIV infection are increasingly recognized. It may occur at an early stage of HIV-infection. Whereas concurrent opportunistic infections may occur, coexisting Pneumocystis jiroveci pneumonia (PCP) and disseminated cryptococcosis with cryptococcal pneumonia is uncommon. The lungs of individuals infected with HIV are often affected by opportunistic infections and tumours and over two-thirds of patients have at least one respiratory episode during the course of their disease. Pneumonia is the leading HIV-associated infection. We present the case of a man who presented dual Pneumocystis jiroveci and cryptococcal pneumonia in a patient with HIV. Definitive diagnosis of PCP and Cryptococcus requires demonstration of these organisms in pulmonary tissues or fluid. In patients with < 200/microliter CD4-lymphocytes, a bronchoalveolar lavage should be performed. This patient was successfully treated with amphotericin B and trimethoprim sulfamethoxazole. After 1 week the patient showed clinical and radiologic improvement and was discharged 3 weeks later. [Copyright &y& Elsevier]

Traumatic bone cysts can mimic the signs and symptoms of an endodontic lesion. This case reports on a 19-year-old male patient who was referred for endodontic assessment of a symptomatic tooth with a gingival swelling and a draining sinus at the furcation of a mandibular second molar. Radiographically, a periradicular radiolucency is evident. A prior history of trauma as well as removal of the wisdom teeth was determined. After careful diagnosis unnecessary endodontic intervention was avoided. Surgical exploration, curettage and the generation of a blood clot resulted in healing at the 6 month review appointment. The tooth remained responsive to pulp sensibility testing at that time. [ABSTRACT FROM AUTHOR]

Abstract: Ocular tuberculosis is not uncommon ocular presentation in our community nowadays. Rare presentations described mainly in the immunocompromised patients. The diagnosis of ocular TB is presumed in the vast majority of the cases of the intraocular TB. We are presenting a very rare presentation of definitive intraocular TB in a healthy 24-year-old male. [Copyright &y& Elsevier]

Our purpose was to describe the clinical, epidemiological and laboratory characteristics of patients hospitalised with acute Q fever in an endemic area of Israel. We conducted a historical cohort study of all patients hospitalised with a definite diagnosis of acute Q fever, and compared them to patients suspected to have acute Q fever, but diagnosis was ruled out. A total of 38 patients had a definitive diagnosis, 47% occurred during the autumn and winter seasons, only 18% lived in rural regions. Leucopaenia and thrombocytopaenia were uncommon (16% and 18%, respectively), but mild hepatitis was common (mean aspartate aminotransferase 76 U/l, mean alanine aminotransferase 81 U/l). We compared them with 74 patients in which acute Q fever was ruled out, and found that these parameters were not significantly different. Patients with acute Q fever had a shorter hospitalisation and they were treated more often with doxycycline than those without acute Q fever (6.4 vs. 14 days, P = 0.007, 71% vs. 38%, P = 0.001, respectively). In conclusion, acute Q fever can manifest as an unspecified febrile illness, with no seasonality. We suggest that in endemic areas, Q fever should be considered in the differential diagnosis in any febrile patient with risk factors for a persistent infection. [ABSTRACT FROM AUTHOR]

Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD deficiency were rarely described. Herein, for the first time, we reported the clinical features, BTD gene mutations and their functional studies of eight symptomatic children with BTD deficiency from southern China. Fatigue, hypotonia, proximal muscular weakness, hearing deficits, rash and respiratory problems are common clinical phenotype of our patients. Seizures are observed only in patients with profound BTD deficiency. Five novel mutations were detected, among which c.637delC (H213TfsTer51) was found in 50% of our patients and might be considered as a common mutation. In vitro studies confirmed three mild mutations c.1368A>C (Q456H), c.1613G>A (R538H), and c.644T>A (L215H) which retained 10-30% of wild type enzyme activity, and six severe mutations c.235C>T (R79C), c.1271G>C (C424S), c.1412G>A (C471Y), c.637delC (H213TfsTer51), c.395T>G (M132W), c.464T>C (L155P), and c.1493dupT (L498FfsTer13) which retained <10% of wild type enzyme activity. c.1330G>C (D444H) decreased the protein expression but not activity of BTD enzyme, and H213TfsTer51 was structurally damaging while L498FfsTer13 was functionally damaging. These results will be helpful in establishing the definitive diagnosis of BTD deficiency at the gene level, offering appropriate genetic counseling, and providing clues to structure/function relationships of the enzyme., (© 2018 Wiley Periodicals, Inc.)

Aim: We aimed to clarify diagnostic and prognostic biomarker potentials of cancer-type organic anion transporting polypeptide 1B3 (Ct-OATP1B3) mRNA in colorectal cancer (CRC) patients., Patients & Methods: Ct-OATP1B3 mRNA levels in 97 CRC and adjacent normal colon tissues were measured by real-time PCR. The receiver operating characteristic curve analysis and the Kaplan-Meier curve analysis were performed to characterize its biomarker potentials., Results: Ct-OATP1B3 mRNA showed noticeable diagnostic power (the area under the receiver operating characteristic = 0.91) in the CRC patients. Additionally, the higher/lower mRNA expression was clearly associated with better/poorer overall survival in the CRC patients (p < 0.05)., Conclusion: Ct-OATP1B3 mRNA has the potential to be a tissue-based biomarker for definitive diagnosis and prognostic stratification in CRC.

The definitive diagnosis has often been elusive in exotic pet medicine, and its absence has been, and continues to be, the source of much client anguish and practitioner frustration. To reach a definitive diagnosis, demonstration of a pathologic response and the etiologic agent are required. This article demonstrates why such an approach is necessary and how it can be readily achieved in practice using endoscopy., (Copyright © 2015 Elsevier Inc. All rights reserved.)