scholarly journals Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

2020 ◽  
Author(s):  
Feng‐Juan Gao ◽  
Jian‐Hong Dong ◽  
Dan‐Dan Wang ◽  
Fang Chen ◽  
Fang‐Yuan Hu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Comprehensive Analysis ◽  
Juvenile Retinoschisis

A comprehensive analysis of the clinical characteristics and laboratory features in 179 patients with autoimmune autonomic ganglionopathy

2020 ◽  
Vol 108 ◽  
pp. 102403 ◽  
Author(s):  
Shunya Nakane ◽  
Akihiro Mukaino ◽  
Osamu Higuchi ◽  
Maeda Yasuhiro ◽  
Koutaro Takamatsu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Comprehensive Analysis ◽  
Autoimmune Autonomic Ganglionopathy ◽  
Laboratory Features

Aetiological evaluation of chest pain in childhood and adolescence

2020 ◽  
Vol 30 (5) ◽  
pp. 617-623
Author(s):  
Emre Aygun ◽  
Sibel Tugce Aygun ◽  
Taciser Uysal ◽  
Fatih Aygun ◽  
Hasan Dursun ◽  
...  
Keyword(s):  
Chest Pain ◽  
Musculoskeletal System ◽  
Clinical Characteristics ◽  
Hospital Admissions ◽  
Comprehensive Analysis ◽  
Childhood And Adolescence ◽  
Cardiac Diseases ◽  
Number Of Patients ◽  
Wide Range ◽  
Psychogenic Disorders

AbstractBackground:Chest pain, as a common cause of hospital admissions in childhood, necessitates detailed investigations due to a wide range of differential diagnoses. In this study, we aimed to determine the distribution of diseases causing chest pain in children and investigate the clinical characteristics of children with chest pain.Methods:This study included 782 patients aged between 3 and 18 years who presented to a paediatric cardiology outpatient clinic with chest pain between April 2017 and March 2018. Aetiological causes and demographic features of the patients were analysed.Results:Most prevalent causes of chest pain were musculoskeletal system (33%) and psychogenic (28.4%) causes. Chest pain due to cardiac reasons was seen in eight patients (1%). Diseases of musculoskeletal and gastrointestinal systems and psychogenic disorders were significantly more common in male and female patients, respectively (p < 0.001 for all). In winter, patients’ age and the number of patients with ≥12 years were higher than those in other seasons (p < 0.001). Most of the parents (70.8%) and patients (90.2%) thought that chest pain in their children was caused by cardiac causes.Conclusion:Most of the diagnoses for chest pain in childhood period are benign and include the musculoskeletal system and psychogenic diseases. Although chest pain due to cardiac diseases is rare, a comprehensive analysis of medical history, detailed physical examination and cardiac imaging with echocardiography is needed to reach more accurate diagnoses.

scholarly journals ANALYSIS OF TUBERCULOSIS/HIV CO-INFECTION TRENDS IN UKRAINE IN 2008-2017

2019 ◽  
Vol 72 (5) ◽  
pp. 903-907
Author(s):  
Tetiana V. Stepanova ◽  
Olga P. Nedospasova ◽  
Mykhailo V. Golubchykov
Keyword(s):  
Epidemiological Study ◽  
Clinical Characteristics ◽  
Healthcare Delivery ◽  
Absolute Number ◽  
Comprehensive Analysis ◽  
Active Tuberculosis ◽  
Southern Region ◽  
Urban Residents ◽  
Newly Diagnosed ◽  
Health Statistics

Introduction: According to WHO estimates for the European Region in 2017, Ukraine had the highest proportion of active tuberculosis cases co-infected with HIV – 21.6%, with an average of 12% in the Region, and the absolute number of tuberculosis/HIV co-infection cases in Ukraine was estimated at the level of 8,000. The aim: carry out a comprehensive analysis of the epidemical situation regarding tuberculosis/HIV co-infection in Ukraine according to selected epidemiological and clinical characteristics. Materials and methods: The retrospective epidemiological study was based on the data from national reporting forms “Annual Active TB Report”, which was being collected by the Center for Health Statistics of the Ministry of Health of Ukraine for period 2008-2017. Review: The incidence of newly diagnosed active tuberculosis associated with HIV in Ukraine increased by 89,4% – from 6,1 per 100,000 population in 2008 to 11,6 per 100,000 population in 2017, against the backdrop of a gradual decrease in the incidence of active tuberculosis by 36.5% over the same period. The rates of comorbidity TB/HIV increased by 2.8 times from 7.9% to 20.3%. The highest rates of incidence tuberculosis/HIV co-infection are observed in person aged 25-44, males, urban residents, and in the southern region of Ukraine. Conclusions: The revealed tendency to increase the rate of the incidence and comorbidity of tuberculosis/HIV causes necessitates reviewing the organizational approaches to healthcare delivery for tuberculosis/HIV co-infection patients.

scholarly journals X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Yangyan Xiao ◽  
Xiao Liu ◽  
Luosheng Tang ◽  
Xia Wang ◽  
Terry G. Coursey ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Macular Degeneration ◽  
Clinical Characteristics ◽  
Phenotypic Variability ◽  
Initiation Codon ◽  
Chinese Family ◽  
Phenotypic Variance ◽  
Novel Mutations ◽  
Juvenile Retinoschisis ◽  
Neurosensory Retina

Abstract X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation. Importantly, OCT has proven vital for XLRS diagnosis in children.

scholarly journals A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis

2014 ◽  
Vol 52 ◽  
pp. 139-145 ◽  
Author(s):  
P. Zisimopoulou ◽  
P. Evangelakou ◽  
J. Tzartos ◽  
K. Lazaridis ◽  
V. Zouvelou ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Clinical Characteristics ◽  
Comprehensive Analysis
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