scholarly journals Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Wei-Xia Lin ◽  
Han-Shi Zeng ◽  
Zhan-Hui Zhang ◽  
Man Mao ◽  
Qi-Qi Zheng ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Geographic Distribution ◽  
Pediatric Patients ◽  
Mutation Spectrum ◽  
Citrin Deficiency

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

2007 ◽  
Vol 30 (6) ◽  
pp. 989-989 ◽  
Author(s):  
E. Barkaoui ◽  
W. Cherif ◽  
N. Tebib ◽  
C. Charfeddine ◽  
F. Ben Rhouma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ia

scholarly journals Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

2015 ◽  
Vol 9 (1) ◽  
Author(s):  
Eileen C. P. Lim ◽  
Maggie Brett ◽  
Angeline H. M. Lai ◽  
Siew-Peng Lee ◽  
Ee-Shien Tan ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Pediatric Patients ◽  
Gene Panel ◽  
Congenital Disorders ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
Rumi Katashima ◽  
Mari Matsumoto ◽  
Yuka Watanabe ◽  
Maki Moritani ◽  
Ichiro Yokota
Keyword(s):  
Molecular Diagnosis ◽  
Pediatric Patients ◽  
Direct Sequencing ◽  
Clinical Information ◽  
Gene Variants ◽  
Family History Of Diabetes ◽  
Clinical Criteria ◽  
Endogenous Insulin ◽  
Patients With Diabetes ◽  
Individualized Management

Background. Maturity-onset diabetes of the young (MODY) is commonly misdiagnosed as type 1 or type 2 diabetes. Common reasons for misdiagnosis are related to limitations in genetic testing. A precise molecular diagnosis is essential for the optimal treatment of patients and allows for early diagnosis of their asymptomatic family members. Objective. The aim of this study was to identify rare monogenic variants of common MODY genes in Japanese pediatric patients. Methods. We investigated 45 Japanese pediatric patients based on the following clinical criteria: development of diabetes before 17 years of age, a family history of diabetes, testing negative for glutamate decarboxylase-65 (GAD 65) antibodies and insulinoma-2-associated autoantibodies (IA-2A), no significant obesity, and evidence of endogenous insulin production. Genetic screening for MODY1 (HNF4α), MODY2 (GCK), MODY3 (HNF1α), and MODY5 (HNF1β) was performed by direct sequencing followed by multiplex ligation amplification assays. Results. We identified 22 missense variants (3 novel variants) in 27 patients (60.0%) in the GCK, HNF4α, and HNF1α genes. We also detected a whole exon deletion in the HNF1β gene and an exon 5–6 aberration in the GCK gene, each in one proband (4.4%). There were a total of 29 variations (64.4%), giving a relative frequency of 53.3% (24/45) for GCK, 2.2% (1/45) for HNF4α, 6.7% (3/45) for HNF1α, and 2.2% (1/45) for HNF1β genes. Conclusions. Clinicians should consider collecting and assessing detailed clinical information, especially regarding GCK gene variants, in young antibody-negative patients with diabetes. Correct molecular diagnosis of MODY better predicts the clinical course of diabetes and facilitates individualized management.

scholarly journals Diagnosis of Pneumocystis jirovecii Pneumonia in Pediatric Patients in Serbia, Greece, and Romania. Current Status and Challenges for Collaboration

2020 ◽  
Vol 6 (2) ◽  
pp. 49
Author(s):  
Valentina Arsić Arsenijevic ◽  
Timoleon-Achilleas Vyzantiadis ◽  
Mihai Mares ◽  
Suzana Otasevic ◽  
Athanasios Tragiannidis ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Pediatric Patients ◽  
Fungal Infections ◽  
Laboratory Diagnosis ◽  
Pneumocystis Jirovecii ◽  
Current Status ◽  
Pneumocystis Jirovecii Pneumonia ◽  
Clinical Practices ◽  
Online Questionnaire ◽  
Regional Collaboration

Pneumocystis jirovecii can cause fatal Pneumocystis pneumonia (PcP). Many children have been exposed to the fungus and are colonized in early age, while some individuals at high risk for fungal infections may develop PcP, a disease that is difficult to diagnose. Insufficient laboratory availability, lack of knowledge, and local epidemiology gaps make the problem more serious. Traditionally, the diagnosis is based on microscopic visualization of Pneumocystis in respiratory specimens. The molecular diagnosis is important but not widely used. The aim of this study was to collect initial indicative data from Serbia, Greece, and Romania concerning pediatric patients with suspected PcP in order to: find the key underlying diseases, determine current clinical and laboratory practices, and try to propose an integrative future molecular perspective based on regional collaboration. Data were collected by the search of literature and the use of an online questionnaire, filled by relevant scientists specialized in the field. All three countries presented similar clinical practices in terms of PcP prophylaxis and clinical suspicion. In Serbia and Greece the hematology/oncology diseases are the main risks, while in Romania HIV infection is an additional risk. Molecular diagnosis is available only in Greece. PcP seems to be under-diagnosed and regional collaboration in the field of laboratory diagnosis with an emphasis on molecular approaches may help to cover the gaps and improve the practices.

scholarly journals Development of a Diet Management Scale for Pediatric Patients with Citrin Deficiency

2020 ◽  
Vol 8 (2) ◽  
pp. 16
Author(s):  
Ling Yan ◽  
Yuanzong Song ◽  
Meng Zhang ◽  
Jianwu Qiu ◽  
Chong Jiang ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Diet Management ◽  
Citrin Deficiency

Detection of gross deletions in SLC25A13 with in-house multiplex ligation-dependent probe amplification (MLPA) probemix for molecular diagnosis of citrin deficiency

Pathology ◽  
2019 ◽  
Vol 51 ◽  
pp. S112
Author(s):  
Nike K.C. Lau ◽  
Hencher H.C. Lee ◽  
Sammy P.L. Chen ◽  
C.K. Ching ◽  
C.C. Shek ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Citrin Deficiency ◽  
Dependent Probe

Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review

2019 ◽  
Vol 62 (10) ◽  
pp. 103713 ◽  
Author(s):  
Chao Wang ◽  
Dong Li ◽  
Fengying Cai ◽  
Xinjie Zhang ◽  
Xiaowei Xu ◽  
...  
Keyword(s):  
Literature Review ◽  
Pediatric Patients ◽  
Case Series ◽  
Mutation Spectrum
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