scholarly journals EVALUATION OF DEMOGRAPHIC, CLINIC AND GENETIC CHARACTERISTICS OF PATIENTS ADMITTED TO TRAKYA UNIVERSITY HOSPITAL WITH HYPERTROPHIC CARDIOMYOPATHY

2021 ◽  
Vol 8 (3) ◽  
pp. 119-122
Author(s):  
Burak Bardakçı ◽  
Berfin Tan ◽  
Sarper Kızılkaya ◽  
Ceren Yüksel ◽  
Servet Altay
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
University Hospital ◽  
Genetic Characteristics

scholarly journals Genetic profiles of Barrett’s esophagus and esophageal adenocarcinoma in Japanese patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mamoru Tokunaga ◽  
Kenichiro Okimoto ◽  
Naoki Akizue ◽  
Kentaro Ishikawa ◽  
Yosuke Hirotsu ◽  
...  
Keyword(s):  
Barrett’S Esophagus ◽  
Esophageal Adenocarcinoma ◽  
Barrett's Esophagus ◽  
Medical Information ◽  
Japanese Patients ◽  
Endoscopic Biopsy ◽  
University Hospital ◽  
Genetic Profile ◽  
Genetic Characteristics ◽  
Significant Difference

AbstractThe genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the genetic profile of NDBE without concurrent dysplasia, early EAC, and surrounding BE were also investigated using endoscopic biopsy samples and formalin-fixed, paraffin-embedded specimens from Japanese patients by targeted next-generation sequencing. Immunohistochemical staining for p53 was also performed for EAC lesions. Targeted NGS was performed for 33 cases with 77 specimens. No significant difference exists in the NDBE group between the number of putative drivers per lesion in the short-segment Barrett’s esophagus (SSBE) and long-segment Barrett’s esophagus (LSBE) [0 (range, 0–1) vs. 0 (range, 0–1). p = 1.00]. TP53 putative drivers were found in two patients (16.7%) with nondysplastic SSBE. TP53 was the majority of putative drivers in both BE adjacent to EAC and EAC, accounting for 66.7% and 66.7%, respectively. More putative drivers per lesion were found in the EAC than in the NDBE group [1 (range, 0–3) vs. 0 (range, 0–1). p < 0.01]. The genetic variants of TP53 in the Japanese early EAC were similar to those in western countries. However, TP53 putative drivers were detected even in Japanese patients with nondysplastic SSBE. This is significant because such nondysplastic SSBE might have higher risk of progressing to high-grade dysplasia or EAC. The risks of progression may not be underestimated and appropriate follow-ups may be necessary even in patients with SSBE.Trial registration: This study was registered at the University Hospital Medical Information Network (UMIN000034247).

Left ventricular septal convexity in differentiating hypertrophic cardiomyopathy from hypertensive heart disease – cardiac MRI study

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
M Tarkiainen ◽  
P Sipola ◽  
M Jalanko ◽  
T Helio ◽  
P Jaaskelainen ◽  
...  
Keyword(s):  
Heart Disease ◽  
Hypertrophic Cardiomyopathy ◽  
Hypertensive Heart Disease ◽  
Clinical Problem ◽  
Left Ventricular ◽  
University Hospital ◽  
Funding Source ◽  
Cardiovascular Research ◽  
Endocardial Border ◽  
Cutoff Value

Abstract Background Subjects with hypertrophic cardiomyopathy (HCM) and hypertensive heart disease (HHD) have left ventricular hypertrophy (LVH). It is a common clinical problem to distinguish HCM from HHD. Septal convexity (SC) into the left ventricle is increased in subjects with hypertrophic cardiomyopathy (HCM)-causing mutations with and without LVH. Purpose Our objective was to study if SC by cardiac magnetic resonance (CMR) differentiates between HCM and HHD. Methods We measured SC in 29 subjects with hypertension and LVH (left ventricular maximal wall thickness (LVMWT) ≥13 mm), in 49 subjects with HCM (LVMWT ≥13 mm) caused by the D175N mutation in the alpha-tropomyosin (TPM1) or the Q1061X mutation in the myosin binding protein C (MYBPC3) genes, and in 20 healthy controls with no LVH. SC into the LV was measured in end-diastolic 4-chamber images as the maximal distance between LV septal endocardial border and a line connecting septal mid-wall points at the level of tricuspid valve insertion and at the level of apical right ventricular insertion on the LV. Results Subjects with HCM had significantly increased septal convexity compared to subjects with HHD both in non-indexed and in BSA-indexed measurements (10.7±4.0 mm vs 4.9±2.7 mm, P&lt;0.001 and 5.5±2.1 mm/m2 vs 2.4±1.3 mm/m2, P&lt;0.001). To differentiate between HCM and HHD, septal convexity cutoff value of 7.85 mm performed best with sensitivity of 77% and specificity of 90%. BSA-indexed SC cutoff value of 3.68 mm differentiated between HCM and HHD with sensitivity of 81% and specificity of 86%. Conclusions CMR derived septal convexity is easily measured and is useful in discriminating between HCM caused by sarcomere mutations versus HHD. Measurement of septal convexity Funding Acknowledgement Type of funding source: Private grant(s) and/or Sponsorship. Main funding source(s): Finnish Foundation of Cardiovascular Research, the special governmental subsidy for health sciences research of the University Hospital of Kuopio

scholarly journals First time genotyping of Cryptosporidium spp. isolates from diarrheic stools of Algerian HIV-Infected subjects supports predominant zoonotic transmission routes

2020 ◽  
Author(s):  
Malika Semmani ◽  
Damien Costa ◽  
Nassima Achour ◽  
Meriem Cherchar ◽  
Abdelmounaim Mouhajir ◽  
...  
Keyword(s):  
Opportunistic Infections ◽  
Zoonotic Transmission ◽  
University Hospital ◽  
Farm Animals ◽  
Molecular Characteristics ◽  
Chronic Diarrhoea ◽  
Gastrointestinal Infections ◽  
Cryptosporidium Hominis ◽  
Genetic Characteristics ◽  
Animal Populations

AbstractBackgroundCryptosporidium is a significant cause of chronic diarrhoea and death in HIV-infected patients. Although HIV-infected patients under HAART have currently reduced risk of suffering from opportunistic infections, opportunistic gastrointestinal infections such as cryptosporidiosis still occur. Currently, there are no data on genetic characteristics of Cryptosporidium isolates from cryptosporidiosis patients in Algeria. This study was aimed at identifying Cryptosporidium species and subtype families prevalent in Algerian HIV-infected patients and contributing to the molecular epidemiology mapping of Cryptosporidium in the MENA region.MethodsFrom 2016 to 2018, 350 faecal specimens were obtained from patients with an HIV/AIDS positive status associated with diarrhoea attending inpatient (hospitalisation) and outpatient care units of El Hadi Flici (ex El- Kettar) hospital, Alger city, Algeria, and screened for the presence of Cryptosporidium using microscopy. Positive samples were submitted to the “Centre National de Référence-Laboratoire Expert-Cryptosporidioses”, Rouen University Hospital, France, for molecular analysis (species, genotype) by DNA sequencing of the SSU18S rRNA and Gp60 genes, respectively.ResultsOut of 350 samples, 33 (9.4%) were microscopically positive for Cryptosporidium spp. of which 22 isolates were successfully amplified at the 18S rRNA and gp60 loci. Based on sequence analysis: 15 isolates were identified as C. parvum with family subtypes IIa-7, and IId-8, while 5 were identified as C. hominis (family subtypes Ia-2 and Ib-3) and 2 as C. felis.ConclusionThe predominance of C. parvum subtype families IIa and IId in this study highlights the potential importance of zoonotic cryptosporidiosis transmission to Algerian HIV-positive subjects. More extensive sampling of both humans and farm animals, especially sheep, goats and calves, and collection of epidemiological data are needed for better understanding of the sources of human C. parvum infections in Algeria.Author summaryCryptosporidiosis, an opportunistic infection, still represents a severe threat for HIV-infected individuals. Cryptosporidium parvum and Cryptosporidium hominis are the leading cause of human cryptosporidiosis. Besides, other species and genotypes of Cryptosporidium might infect both immunocompetent and immunocompromised subjects.In Algeria, no study has been conducted until now on the prevalence and molecular characteristics of Cryptosporidium-infection among HIV-infected individuals. Thus, this study aimed to examine the distribution and molecular characteristics of Cryptosporidium spp—isolates to provide clues to the understanding of transmission dynamics of species and genotypes to Algerian HIV-infected patients.Of 350 faeces samples, 33 were microscopy-positive for Cryptosporidium and molecular characterisation obtained for 22 isolates resulted in the identification of C. hominis, C. parvum, and C. felis. The frequent occurrence of the zoonotic IIa and IId subtype families of C. parvum was suggestive of widespread zoonotic transmission of cryptosporidiosis in Algeria, and warrants further extensive molecular epidemiological studies in both human and animal populations.

scholarly journals Clinical and Genetic Characteristics of Familial Hypercholesterolemia at Sultan Qaboos University Hospital in Oman

2020 ◽  
Vol 35 (3) ◽  
pp. e141-e141
Author(s):  
Khalid Al-Waili ◽  
Khalid Al-Rasadi ◽  
Fahad Zadjali ◽  
Khamis Al-Hashmi ◽  
Suad Al-Mukhaini ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
University Hospital ◽  
Genetic Characteristics ◽  
Sultan Qaboos University

Epidemiology of cardiomyopathies in children and adolescents: a retrospective study over the last 10 years

2002 ◽  
Vol 12 (3) ◽  
pp. 253-259 ◽  
Author(s):  
Ivan Malčić ◽  
Marija Jelušić ◽  
Hrvoje Kniewald ◽  
Nina Barišić ◽  
Dražen Jelašić ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Hypertrophic Cardiomyopathy ◽  
Dilated Cardiomyopathy ◽  
Children And Adolescents ◽  
Task Force ◽  
Neuromuscular Disorders ◽  
Restrictive Cardiomyopathy ◽  
University Hospital ◽  
World Health ◽  
Paediatric Cardiology

We conducted a retrospective study at the Department of Paediatric Cardiology of the University Hospital Centre Rebro, Zagreb, over the period from 1988 to 1998, so as to assess the epidemiology of childhood cardiomyopathies. The patients were categorized according to the guidelines of the Task Force on Cardiomyopathies of the World Health Organization and the International Society and Federation of Cardiology. We identified 121 infants, children and adolescents as having cardiomyopathy, giving an average occurrence for all cardiomyopathies of 38.81 for each 10,000 patients examined in our outpatient clinics for paediatric cardiology. Of the patients, 50 were female (41.3%) and 71 were male (58.7%). The cardiomyopathy was of the dilated variant in 52 patients (42.9%), with 43 patients (35.5%) having hypertrophic cardiomyopathy, and 6 patients (4.8%) identified with restrictive cardiomyopathy. We encountered no patients with arrhythmogenic right ventricular cardiomyopathy. In nine patients (7.4%), it proved impossible to classify the cardiomyopathy. We placed 11 patients (9.0%) in the group of specific cardiomyopathies. Most of those with dilated cardiomyopathy had been diagnosed prior to the age of 3 years (RR 1.9, 95% CI 1.4–2.47). There were no statistically significant differences in the incidences of dilated as compared to hypertrophic cardiomyopathy (Z 0.923, p = 0.1779), but we encountered a significantly lower occurrence of restrictive cardiomyopathy (Z 6.044, p < 0.001). Of those with hypertrophic cardiomyopathy, 15 patients (34.8%) had the asymmetric variant, while 28 patients (65.2%) exhibited the concentric form. During the period of follow-up, 10 patients died, 4 with dilated cardiomyopathy, 4 with hypertrophic cardiomyopathy, 1 with restrictive cardiomyopathy, and 1 with a specific cardiomyopathy. We encountered 12 (9.9%) patients who, besides cardiomyopathies, also suffered from neuromuscular disorders. Most of these had dilated cardiomyopathy. Mitochondrial disorders, in contrast, were more frequently found in patients with hypertrophic cardiomyopathy.

scholarly journals Clinical and Genetic Characteristics of Autoimmune Polyglandular Syndrome Type 3 Variant in the Japanese Population

2012 ◽  
Vol 97 (6) ◽  
pp. E1043-E1050 ◽  
Author(s):  
Ichiro Horie ◽  
Eiji Kawasaki ◽  
Takao Ando ◽  
Hironaga Kuwahara ◽  
Norio Abiru ◽  
...  
Keyword(s):  
Japanese Population ◽  
University Hospital ◽  
Acid Decarboxylase ◽  
Syndrome Type ◽  
Genetic Characteristics ◽  
Autoimmune Thyroid ◽  
Autoimmune Polyglandular Syndrome ◽  
Ctla4 Gene ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Type 3

Objective: Type 1 diabetes (T1D) is commonly associated with autoimmune thyroid disease (AITD), and the occurrence of both T1D and AITD in a patient is defined as autoimmune polyglandular syndrome type 3 variant (APS3v). We aimed to clarify the differences in the clinical and genetic characteristics of APS3v patients and T1D patients without AITD [T1D/AITD(−)] in the Japanese population. Design/Patients: Our subjects were 54 APS3v patients and 143 T1D/AITD(−) patients who were consecutively diagnosed at Nagasaki University Hospital from 1983 to the present. Results: A remarkable female predominance, a slow and older age onset of T1D, and a higher prevalence of glutamic acid decarboxylase autoantibodies were observed in APS3v patients compared to T1D/AITD(−) patients. The older onset age of T1D in APS3v patients was associated with a higher proportion of slow-onset T1D. Among the two major susceptible human leukocyte antigen (HLA) class II haplotypes in Japanese T1D, DRB1*0405-DQB1*0401, but not DRB1*0901-DQB1*0303, was associated with APS3v patients. Furthermore, DRB1*0803-DQB1*0601 was not protective in patients with APS3v. The frequencies of the GG genotype in +49G&gt;A and +6230G&gt;A polymorphism in the CTLA4 gene were significantly higher in T1D/AITD(−) patients, but not in APS3v patients, compared to control subjects. Conclusions: In conclusion, we found notable differences in the clinical and genetic characteristics of APS3v patients and T1D/AITD(−) patients in the Japanese population, and the differences in the clinical characteristics between the two groups may reflect distinct genetic backgrounds including the HLA DRB1-DQB1 haplotypes and CTLA4 gene polymorphisms.

scholarly journals Genetic Profiles of Barrett’s Esophagus and Esophageal Adenocarcinoma in Japanese patients

2021 ◽  
Author(s):  
Mamoru Tokunaga ◽  
Kenichiro Okimoto ◽  
Naoki Akizue ◽  
Kentaro Ishikawa ◽  
Yosuke Hirotsu ◽  
...  
Keyword(s):  
Barrett’S Esophagus ◽  
Esophageal Adenocarcinoma ◽  
Barrett's Esophagus ◽  
Medical Information ◽  
Japanese Patients ◽  
Endoscopic Biopsy ◽  
University Hospital ◽  
Genetic Profile ◽  
Genetic Characteristics ◽  
Significant Difference

Abstract The genetic characteristics of Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) in the Japanese population is unclear. This study aims to investigate the genetic characteristics from nondysplastic BE (NDBE) to early EAC in Japan. Clinical information was collected. Moreover, the genetic profile of NDBE without concurrent dysplasia, early EAC, and surrounding BE were also investigated using endoscopic biopsy samples and formalin-fixed, paraffin-embedded specimens from Japanese patients by targeted next-generation sequencing. Immunohistochemical staining for p53 was also performed for EAC lesions. Targeted NGS was performed for 33 cases with 77 specimens. No significant difference exists in the NDBE group between the number of putative drivers per lesion in the short-segment Barrett’s esophagus (SSBE) and long-segment Barrett’s esophagus (LSBE) [0 (range, 0–1) vs. 0 (range, 0–1). p = 1.00]. TP53 putative drivers were found in two patients (16.7%) with nondysplastic SSBE. TP53 was the majority of putative drivers in both BE adjacent to EAC and EAC, accounting for 66.7% and 66.7%, respectively. More putative drivers per lesion were found in the EAC than in the NDBE group [1 (range, 0–3) vs. 0 (range, 0–1). p < 0.01]. The genetic variants of early EAC in the Japanese were similar to those in western countries. However, TP53 putative drivers were detected even in Japanese patients with nondysplastic SSBE. The risks of progression may not be underestimated and appropriate follow-ups may be necessary even in patients with SSBE.This study was registered at the University Hospital Medical Information Network (UMIN000034247).

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