scholarly journals Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Bita Geramizadeh ◽  
Mohammad Hadi Imanieh ◽  
Mahmood Haghighat ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Gene Sequencing ◽  
Glycogen Storage ◽  
Loss Of Function ◽  
Retrospective Case ◽  
Complex Disorders ◽  
Glycogen Storage Diseases ◽  
Targeted Gene Sequencing ◽  
Retrospective Case Study

AbstractGlycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping. A total of the 15 pediatric patients were admitted to our hospital and referred for molecular genetic testing using TGS. Eight genes namely SLC37A4, AGL, GBE1, PYGL, PHKB, PGAM2, and PRKAG2 were detected to be responsible for the onset of the clinical symptoms. A total number of 15 variants were identified i.e. mostly loss-of-function (LoF) variants, of which 10 variants were novel. Finally, diagnosis of GSD types Ib, III, IV, VI, IXb, IXc, X, and GSD of the heart, lethal congenital was made in 13 out of the 14 patients. Notably, GSD-IX and GSD of the heart-lethal congenital (i.e. PRKAG2 deficiency) patients have been reported in Iran for the first time which shown the development of liver cirrhosis with novel variants. These results showed that TGS, in combination with clinical, biochemical, and pathological hallmarks, could provide accurate and high-throughput results for diagnosing and sub-typing GSD and related diseases.

scholarly journals Author Correction: Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Bita Geramizadeh ◽  
Mohammad Hadi Imanieh ◽  
Mahmood Haghighat ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Gene Sequencing ◽  
Glycogen Storage ◽  
Iranian Population ◽  
Targeted Gene Sequencing

scholarly journals Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management

2019 ◽  
Author(s):  
Edyta Szymańska ◽  
Dominika A. Jóźwiak-Dzięcielewska ◽  
Joanna Gronek ◽  
Marta Niewczas ◽  
Wojciech Czarny ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Glycogen Storage ◽  
Therapeutic Management ◽  
Hepatic Glycogen ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

Functional analysis of PCSK9 3′UTR variants and mRNA–miRNA interactions in patients with familial hypercholesterolemia

Epigenomics ◽  
2021 ◽  
Author(s):  
Bruna Los ◽  
Jéssica B Borges ◽  
Victor F Oliveira ◽  
Renata CC Freitas ◽  
Carolina Dagli-Hernandez ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Familial Hypercholesterolemia ◽  
In Silico ◽  
Hepg2 Cells ◽  
Luciferase Activity ◽  
Gene Sequencing ◽  
Transient Transfection ◽  
Loss Of Function ◽  
Targeted Gene Sequencing

Aim: Functional analysis of PCSK9 3′UTR variants and mRNA–miRNA interactions were explored in patients with familial hypercholesterolemia (FH). Materials & methods: PCSK9 3′UTR variants were identified by exon-targeted gene sequencing. Functional effects of 3′UTR variants and mRNA–miRNA interactions were analyzed using in silico and in vitro studies in HEK293FT and HepG2 cells. Results: Twelve PCSK9 3′UTR variants were detected in 88 FH patients. c.*75C >T and c.*345C >T disrupted interactions with miR-6875, miR-4721 and miR-564. Transient transfection of the c.*345C >T decreased luciferase activity in HEK293FT cells. miR-4721 and miR-564 mimics reduced PCSK9 expression in HepG2 cells. Conclusion: PCSK9 c.*345C >T has a possible role as loss-of-function variant. miR-4721 and miR-564 downregulate PCSK9 and may be useful to improve lipid profile in FH patients.

scholarly journals GenSeizer: A Multiplex PCR-Based Targeted Gene Sequencing Platform for Rapid and Accurate Identification of Major Mycobacterium Species

2020 ◽  
Author(s):  
Bing Li ◽  
Liyun Xu ◽  
Qi Guo ◽  
Jianhui Chen ◽  
Yanan Zhang ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Clinical Symptoms ◽  
Simultaneous Detection ◽  
Gene Sequencing ◽  
Large Data ◽  
Cross Reactivity ◽  
Accurate Identification ◽  
Data Set ◽  
Sequencing Platform ◽  
Targeted Gene Sequencing

Mycobacterium tuberculosis (MTB) and non-tuberculous mycobacteria (NTM) infections often exhibit similar clinical symptoms. Timely and effective treatment relies on the rapid and accurate identification of species and resistance genotypes. In this study, a new platform (GenSeizer), which combines bioinformatics analysis of a large data set and multiplex PCR-based targeted gene sequencing, was developed to identify 10 major Mycobacterium species that cause pulmonary, as well as extrapulmonary, human diseases. Simultaneous detection of certain resistance erm(41) and rrl genotypes in M. abscessus was also feasible. This platform was specific and sensitive, exhibited no cross-reactivity among reference strains and a detection limit of 5 DNA copies or 50 CFU Mycobacterium/ml. In a blinded comparison, GenSeizer and multigene sequencing showed 100% agreement in the ability to identify 88 clinical, Mycobacterium isolates. The resistance genotypes, confirmed by whole genome sequencing of 30 M. abscessus strains, were also correctly identified by GenSeizer 100% of the time. These results indicate that GenSeizer is an efficient, reliable platform for diagnosing major pathogenic Mycobacterium species.

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Mohammad Hadi Imanieh ◽  
Bita Geramizadeh
Keyword(s):  
Liver Cirrhosis ◽  
Metabolic Diseases ◽  
Novel Mutation ◽  
Laboratory Data ◽  
Glycogen Storage ◽  
Hepatic Involvement ◽  
Glycogen Storage Diseases ◽  
Novel Variant ◽  
Severe Liver Damage ◽  
Targeted Gene Sequencing

Abstract Objectives Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX α2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation. Case presentation we describe a 3-year-old boy who suffered from hepatomegaly, fatty liver disease, and liver cirrhosis. The cause of cirrhosis at a young age was unknown based on the laboratory data and liver biopsy, so we performed a targeted-gene sequencing (TGS) covering 450 genes involved in inborn metabolic diseases consisting of glycogen storage disorders genes with hepatic involvement. He was found out to have a rare novel pathogenic variant in the PHKA2 gene. Conclusions This novel variant c.2226+2T > C expands the mutational spectrum of the PHKA2 gene. Also, severe liver damage (cirrhosis) in patients with GSD- IX α2 has rarely been reported, which needs further discussion. We hypothesize that unidentified PHKA2 variants may be a rare cause of childhood liver cirrhosis.

Technology and Hospital Information System: A Case of Implementation of Electronic Clinical Records in Hospital Maternity Irene Neto in Lubango, Angola

2019 ◽  
Vol 10 (11) ◽  
pp. 1131-1135
Author(s):  
Tomas Hambili Paulo Sanjuluca ◽  
◽  
Ricardo Correia ◽  
Anabela Antunes de Almeida ◽  
Ana Gloria Diaz Martinez ◽  
...  
Keyword(s):  
Maternity Hospital ◽  
Management Support ◽  
Retrospective Case ◽  
System A ◽  
Clinical Records ◽  
Retrospective Case Study ◽  
The Impact ◽  
And Child Health

Introduction: In order to have a good assessment of the quality of maternal and child health care, it is essential that there is up-to-date and reliable information. Objective: To evaluate the impact of the implementation of a computerized database of clinical processes in the admission, archive and medical statistics section, of Maternity hospital Irene Neto/Lubango-Angola. Methodology: A descriptive study with a quantitative and qualitative approach to carry out a retrospective case study deliveries and newborns, records from 2014 to 2017. Final considerations: The implementation of this project may contribute to the improvement of clinical management support management of the hospital as well as facilitating access to information for research and scientific production.

Paranasal Sinus Mucocele Clinical, imagistic and biochemical aspects

2018 ◽  
Vol 69 (8) ◽  
Author(s):  
Doina Vesa ◽  
Cristian Martu ◽  
Razvan Leata ◽  
Ludmila Lozneanu ◽  
luminita Radulescu ◽  
...  
Keyword(s):  
Facial Asymmetry ◽  
Retrospective Case ◽  
Mri Scans ◽  
The One ◽  
Ethmoid Sinuses ◽  
Retrospective Case Study ◽  
Cellular Components ◽  
Ct And Mri

Paranasal mucoceles are a type of cysts that evolve slowly and are asymptomatic; this poses a difficulty in diagnosing the patient because the symptoms can go unnoticed. The mucocele evolves unpredictably. On the one hand, it can become infected turning into pyoceles and on the other hand, it can invade important regions such as the orbital, cranial or genian regions, creating facial asymmetry. This is a retrospective case study of 37 patients diagnosed with sinus mucoceles, followed up by clinical examination and paraclinical tests such as CT and MRI scans. The biochemical components of the liquid from within the mucocele were analyzed and the following criteria were recorded: NaCl-, Cl-, Na+ and cholesterine as well as cellular components such as mastocytes, macrophages, hematocytes and leucocytes. In all cases, the treatment option was surgery with favorable post-operative and follow-up evaluation. The mucoceles that appeared post-operatively (maxillary and ethmoid sinuses) evolved more rapidly than the mucoceles that were induced byan external injury. Longer follow-up of operated patients permitted a more timely diagnosis of recurrences.

scholarly journals Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

2021 ◽  
Vol 10 (9) ◽  
pp. 1954
Author(s):  
Riccardo Vio ◽  
Annalisa Angelini ◽  
Cristina Basso ◽  
Alberto Cipriani ◽  
Alessandro Zorzi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Restrictive Cardiomyopathy ◽  
Glycogen Storage ◽  
Left Ventricular ◽  
Pathophysiological Mechanism ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
Similar Genetic Background ◽  
Ventricular Wall Thickness ◽  
And Storage

Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes. These “sarcomeric cardiomyopathies” also share diastolic dysfunction as the prevalent pathophysiological mechanism. Starting from the observation that patients with HCM and primary RCM may coexist in the same family, a characteristic pathophysiological profile of HCM with restrictive physiology has been recently described and supports the hypothesis that familiar forms of primary RCM may represent a part of the phenotypic spectrum of HCM rather than a different genetic cardiomyopathy. To further complicate this scenario some infiltrative (amyloidosis) and storage diseases (Fabry disease and glycogen storage diseases) may show either a hypertrophic or restrictive phenotype according to left ventricular wall thickness and filling pattern. Establishing a correct etiological diagnosis among HCM, primary RCM, and hypertrophic or restrictive phenocopies is of paramount importance for cascade family screening and therapy.

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

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