Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients.

: 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 of mitochondrial ornithine uptake, hyperammonemia, and accumulation of ornithine and lysine in the cytoplasm. The initial presentation and time of diagnosis in HHH highly varies.

Application of short tandem repeats (STRs) in the preimplantation genetic diagnosis (PGD) of α-thalassemia.

Objectives: α-thalassemia is an autosomal recessive monogenic blood disorder, affecting up to 5% of the world's population. The occurrence rate of the disease in Vietnam varies up to up to 51.5%, with high rate of mutation carriers, of couples consisting of two carriers at risk of bearing a child with fetal Hb Bart, which can develop into hydrops fetalis syndrome, threatening the well-being of the mother and the child.

A novel variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients.

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

Methods: Whole-exome sequencing of the gene was performed for eight Vietnamese patients with -related neuromuscular disorders including five patients with SMARD1 and the others with CMT2S.

A Model for Gastric Cancer Risk Prediction Based on Polymorphisms and Health-risk Behaviors in a Vietnamese Population.

Background/aim: Although the expression of mucin 1(MUC1) and prostate stem cell antigen (PSCA) genes is correlated with gastric cancer development and progression, the utility of these two genes as biomarkers of gastric cancer prognosis still needs to be confirmed in clinical practice. This study aimed to develop a model predictive of gastric cancer that integrates several significant single nucleotide polymorphisms (SNPs) of MUC1 and PSCA genes, and some health-risk behavior factors in a Vietnamese population.

Patients And Methods: A total of 302 patients with primary gastric carcinoma and 304 healthy persons were included in a case-control study.

Mutation spectrum of retinoblastoma patients in Vietnam.

Background: Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatment outcomes and patient management.

Methods: In this study, both somatic and germline mutations were detected in blood and tumour samples of 42 RB patients using direct sequencing and multiplex ligation-dependent probe amplification.

In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

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 of knowledge regarding molecular characteristics and the correlation between genotype and phenotype interfere with the risk stratification and finding the optimal treatment in Vietnam.

Merosin-deficient congenital muscular dystrophy type 1a: detection of variants in Vietnamese patients.

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

Nutritional Status, Refeeding Syndrome and Some Associated Factors of Patients at COVID-19 Hospital in Vietnam.

Multisystem inflammatory syndrome is associated with COVID-19 and can result in reduced food intake, increased muscle catabolism, and electrolyte imbalance. Therefore COVID-19 patients are at high risk of being malnourished and of refeeding syndrome. The present study aimed to determine the prevalence and correlates of malnutrition and refeeding syndrome (RS) among COVID-19 patients in Hanoi, Vietnam.

Targeted next-generation sequencing determined a novel variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.

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

Feasibility of combining short tandem repeats (STRs) haplotyping with preimplantation genetic diagnosis (PGD) in screening for beta thalassemia.

β-thalassemia is an autosomal recessive disease with the reduction or absence in the production of β-globin chain in the hemoglobin, which is caused by mutations in the Hemoglobin subunit beta (HBB) gene. In Vietnam, the number of β-thalassemia carriers range from 1.5 to 25.

Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center.

Objective: Hemophilia A (HA) is an X-linked recessive bleeding disease caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII). Available treatment to replenish the missing factor may not reach a good outcome for all patients because of potential complications that include the development of inhibitor antibodies directed against factor VIII. Therefore, the prevention of transmitting pathogenic mutations to the next generation is the best solution for this disease.

Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder and is caused by G6PD gene mutations. To date, more than 400 variants in the G6PD gene have been discovered, and about 160 identified variants are associated with a significant decrease in the G6PD enzyme activity. However, the molecular characterization and epidemiological study of G6PD deficiency are still limited in Vietnam.

Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.

(1) Background: Individuals with gene mutations are at increased risk of breast and ovarian cancer. The prevalence of mutations varies by race and ethnicity, and the prevalence and the risks associated with most mutations has not been unknown in the Vietnamese population. We herein screen the entire and genes for breast and ovarian cancer patients with a family history of breast cancer and ovarian cancer, thereby, suggesting a risk score associated with carrier status and history for aiding personalized treatment; (2) Methods: Between December 2017 and December 2019, Vietnamese patients who had a pathological diagnosis of breast and epithelial ovarian cancer were followed up, prospectively, after treatment from two large institutions in Vietnam.

Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.

Objective: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant.

Case Report: We report a non-consanguineous couple who had three daughters, all spontaneous preterm birth at 36 weeks gestation and died in the first period after birth, suspected inborn errors of metabolism. Two days after birth, the first daughter presented with difficulty breathing, cyanosis and died; the second died at 33 days old; the third daughter was isolated under special care and was taken to the mother's room, developed the same symptoms and died after 5 days.

Polymorphism of Gene in Vietnamese Gastric Cancer Patients: A Multicenter Case-Control Study.

Background: A few studies revealed that the polymorphisms of gene have a role and significance as a susceptible factor contributing to gastric cancer. To better understand the roles of two genotype polymorphisms of rs4072037 and rs2070803 in the development of gastric cancer in Vietnamese population, a multicenter, large-sample, case-control study was conducted to investigate the potential association of these single-nucleotide polymorphisms (SNPs) of gene with gastric cancer risk and to evaluate the combination factors in relation with these SNPs.

Methods: This case-control study included 302 gastric cancer patients and 304 controls at four national medical hospitals between 2016 and 2018.

Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family.

Objective: MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since a second trimester ultrasound is not able to detect subtypes with minimal prenatal presentations, only prenatal diagnosis by genetic testing can confirm these cases and allow for effective genetic counseling, especially a family with a previously affected child.

Case Report: A 37-year-old women was pregnant for the third time and had two prior children with profound microcephaly and mental retardation.

Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.

Aims: Dozens of causative genes and their mechanisms of nonsyndromic cleft lip with or without cleft palate (NSCL/P) were revealed through genome-wide association and linkage studies. Results were, however, not always replicated in different populations or methodologies. This study used case-control and family based approaches to investigate the etiology of NSCL/P and its two subtypes: nonsyndromic cleft lip only (NSCLO) and nonsyndromic cleft lip and palate (NSCLP) among the Vietnamese population.

A case of self-improving collodion ichthyosis in Vietnam.

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

Assessment of 6 STR loci for prenatal diagnosis of Duchenne Muscular Dystrophy.

Objective: 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 Duchenne Muscular Dystrophy (DMD), providing the carrier mother with the option of prenatal diagnosis in a subsequent pregnancy is accepted practice in many places where termination of pregnancy is allowed. Though methods of direct sequencing such as Sanger's sequencing has been widely used, Next-Generation Sequencing is been increasingly replacing most of its application.

Quality of Life in Vietnamese Gastric Cancer Patients.

Background: Gastric cancer (GC) is one of the leading causes of cancer-related death in Vietnam. Research on health-related quality of life of Vietnamese gastric cancer patients is still in its infancy.

Aim: To assess the health-related quality of life (HRQOL) of GC patients using the 15D instrument.

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.

Acromesomelic dysplasias are rare skeletal disorders leading to severe short stature and abnormal skeletal morphology. Acromesomelic 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 in South East Asia and identified a novel pathogenic variant in NPR2 (c.