Background Pathogenic variants in the IGHMBP2 gene are associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy respiratory distress type 1 (SMARD1; OMIM #604320) and Charcot–Marie–Tooth 2S (CMT2S; #616155). SMARD1 is a severe fatal condition characterized by infantile-onset distress, diaphragmatic palsy, distal weakness, while CMT2S follows milder clinical course, slowly progressive muscle weakness sensory loss, without manifestations of disorder....

α-thalassemia is an autosomal recessive monogenic blood disorder, affecting up to 5% of the world's population. The occurrence rate disease in Vietnam varies 51.5%, with high mutation carriers, couples consisting two carriers at risk bearing a child fetal Hb Bart, which can develop into hydrops fetalis syndrome, threatening well-being mother and child. Our study aims facilitate birth healthy/asymptomatic children carrier who received reproductive service our centre during period 2019–2022....

Multisystem inflammatory syndrome is associated with COVID-19 and can result in reduced food intake, increased muscle catabolism, electrolyte imbalance. Therefore patients are at high risk of being malnourished refeeding syndrome. The present study aimed to determine the prevalence correlates malnutrition (RS) among Hanoi, Vietnam. This prospective cohort analyzed data from 1207 who were treated hospital Hanoi Medical University (HMUH COVID-19) between September 2021 March 2022. Nutritional...

Gastric cancer (GC) is one of the leading causes cancer-related death in Vietnam. Research on health-related quality life Vietnamese gastric patients still its infancy.To assess (HRQOL) GC using 15D instrument.182 were selected to be interviewed and their HRQOL was assessed generic questionnaire. Tables regarding history, disease characteristics, participants formulated according genders STATA 12.0.The average age 60.8 ± 11.6. The time from diagnosis date interview 14.8 8.4 months. index...

October 17, 2024 Dear Prof. Dr. Rizzo and Oshiro, Rizzo: Editor-in-Chief of the Endocrinology section. Oshiro: Guest Editor “Advances in Clinical Diabetes, Obesity, Metabolic Diseases” special Issue. I would like to submitt manuscript entitled “Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Vietnamese Patients” by Khanh Ngoc Nguyen et al. be considered for publication as an article “Medicina” journal. This study included retrospective prospective analyses four unrelated children...

Lupus nephritis is a common complication of systemic lupus erythematosus (SLE, OMIM #15200) in the Asian population and main contributor to mortality morbidity. In this study, we evaluate variants on three genes STAT4, CDKN1A, IRF5 their association with nephritis.One hundred fifty-two SLE patients confirmed (through biopsy) 76 healthy controls were recruited. Genotyping SNPs gene IRF5, phenotypic, laboratory assessment performed; renal biopsy classification carried out for patient...

Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient ( LAMA2 -MD), is an autosomal recessive disease caused by biallelic variants in the gene. In MDC1A, laminin- α2 chain expression absent or significantly reduced, leading to some early-onset clinical symptoms including severe hypotonia, muscle weakness, skeletal deformity, non-ambulation, and respiratory insufficiency. Methods: Six patients from five unrelated Vietnamese...

Abstract Background Brugada syndrome (BrS) is a rare genetic disease that causes sudden cardiac death (SCD) and arrhythmia. SCN5A pathogenic variants (about 30% of diagnosed patients) are responsible for BrS. Aims Lack knowledge regarding molecular characteristics the correlation between genotype phenotype interfere with risk stratification finding optimal treatment in Vietnam. Therefore, we identified evaluated genotype–phenotype BrS on 117 Vietnamese probands. Materials Methods The...

Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles the RB1 gene. Early genetic screening for gene would greatly improve treatment outcomes and patient management.In this study, somatic germline were detected blood tumour samples 42 RB patients using direct sequencing multiplex ligation-dependent probe amplification.In total, 34 different found 36 patients, including 1 SNP, 4 large deletions, 5 splicing...

Abstract Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders characterized by aberrant skin cornification and diffuse scaling. Some patients with this condition are born encased in collodion membrane which later shed, revealing the underlying disorder. Self‐healing baby (SHCB) less common phenotype disorder, accounting for about 10% patients, peels after several weeks, leaving no aberration. Here, we report discuss diagnosis management an infant SHCB Vietnam due...

Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing required for all female family members. However, there are cases analysis cannot detect any due to phenomenon called mosaicism. The case report describes of mosaicism DMD and discusses approach diagnosis counseling familial disorder. proband was diagnosed with at age six. Sequencing Dystrophin gene identified 2-nucleotide deletion c.2032_2033delCA, p.Q678DfsX41....

Abstract Acromesomelic dysplasias are rare skeletal disorders leading to severe short stature and abnormal morphology. dysplasia Maroteaux‐type is caused by homozygous or compound heterozygous pathogenic variants in NPR2 that encodes for natriuretic peptide receptor B. Here, we reported the first AMDM case South East Asia identified a novel variant (c. 152T>C, p. (Leu51Pro)). Further analyses reveal parents two other family members were variant. The clinical report highlights importance...

Abstract Limb‐girdle muscular dystrophy‐type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of 26‐year‐old male who had inactive walking due to proximal muscle weakness. Targeted next‐generation sequencing found novel variant c.412C > T (Q138*)

The thalassemias is a group of hereditary disorders with impaired production functional hemoglobin. In this report we described rare case compound heterozygous mutation South-East Asia type persistence fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to be performed in subsequent pregnancy the family. father showed SEA-HPFH thalassemia trait phenotype, while his genotype revealed he was for deletion; mother heterozygote IVS-II-654 mutation; second child had...

Duchenne Muscular Dystrophy is an X-linked recessive disorder characterized by progressive muscular degeneration, patients often develop cardiac failure in the later stage and death occurs before 20 years of age. For a disease with poor postnatal prognosis such as (DMD), providing carrier mother option prenatal diagnosis subsequent pregnancy accepted practice many places where termination allowed. Though methods direct sequencing Sanger's has been widely used, Next-Generation Sequencing...

We investigated a strategy of exome sequencing DNA from the unaffected parents and applied set filtering criteria to identify genes where both partners are heterozygous for potentially pathogenic variant. report non-consanguineous couple who had three daughters, all spontaneous preterm birth at 36 weeks gestation died in first period after birth, suspected inborn errors metabolism. Two days daughter presented with difficulty breathing, cyanosis died; second 33 old; third was isolated under...

MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since second trimester ultrasound not able to detect subtypes minimal prenatal presentations, only diagnosis by genetic testing can confirm these cases allow for effective counseling, especially family previously affected child.A 37-year-old women was pregnant the third time had two prior children profound mental retardation....

: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure mitochondrial ornithine uptake, hyperammonemia, and accumulation lysine in cytoplasm. The initial presentation time diagnosis highly varies. Genetic analysis critical for diagnosis.

Recurrent pregnancy loss (RPL) is a physical and mental burden for women. In Vietnam, exploring the cause of miscarriages still challenge to clinical physicians. We aimed investigate etiology RPL in National Hospital Obstetrics Gynecology Vietnam from 2012 2014. The cross-sectional study included 301 pregnant women with history RPL. patients were examined offered medical testing determine cause(s). Based on testing, we determined causation (11.29%) who had positive scores an antiphospholipid...

"Primary congenital glaucoma in Vietnam: analysis and identification of novel CYP1B1 variants." Ophthalmic Genetics, 40(3), pp. 286–287

The adipose tissue contains a large numbers of stem cells; adipose-derived cells (ADSCs) can be em- ployed in regenerative medicine. This study was aimed at isolating ADSCs and evaluating the safety mouse models. Stromal vascular fraction (SVF) collected from using collagenase. were then isolated SVFs by vitro culture. stemness evaluated based on their self-renewal potential, po- tential to differentiate into osteoblasts, adipocytes, expression specific markers. Finally, tumor forma- tion...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder and caused by G6PD gene mutations. To date, more than 400 variants in have been discovered, about 160 identified are associated with a significant decrease activity. However, molecular characterization epidemiological study of still limited Vietnam. Therefore, we conducted this to determine among Vietnamese populations evaluate their correlation A total 339 patients (302 males 37 females) were enrolled...

β-thalassemia is an autosomal recessive disease with the reduction or absence in production of β-globin chain hemoglobin, which caused by mutations Hemoglobin subunit beta (HBB) gene. In Vietnam, number carriers range from 1.5 to 25.0%, depending on ethnic and geographical areas, much higher than WHO's data worldwide (1.5%). Hence, preimplantation genetic diagnosis (PGD) plays a crucial role reducing rate affected patients/carriers. this research, we report feasibility reliability conducting...