Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D) is a rare metabolic disorder that impairs the body's ability to produce ketone bodies and regulate energy metabolism. Diagnosing HMGCS2D is challenging because patients typically remain asymptomatic unless they experience fasting or illness. Due to the absence of reliable biochemical markers, genetic testing has become the definitive method for diagnosing HMGCS2D.

Genetic background and clinical phenotype in a Vietnamese cohort with Brugada syndrome: A whole exome sequencing study.

Objectives: The aim of this study was to report the spectrum of genetic variations and clinical phenotype in a Vietnamese cohort with confirmed Brugada syndrome (BrS) using the whole exome sequencing (WES).

Methods: Fifty patients with confirmed BrS were included in this study. Genomic DNA samples were extracted from peripheral blood and conducted for WES.

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.

Natural resources-environmental technology-ecological footprint nexus: Does natural resources rents diversification make a difference?

Researchers have shown a growing interest in investigating the environmental consequences of energy exploitation and green technologies, particularly in light of the escalating severity of climate change issues in recent times. However, these researches remain incomplete in terms of the various elements and mechanisms of impact. By assessing the novel facet of resource diversification, this study has assessed the direct and indirect effects of this feature on environmental quality.

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.

Experience of Autologous Immunotherapy for Non-Small Cell Lung Cancer Using Zoledronate-Actived Gammadelta T Cells.

Background: Several nations around the world have utilized autologous immune enhancement therapy in the treatment of cancer, with initial positive outcomes. This study describes our experience with autologous gamma delta T cell immunotherapy for the treatment of non-small cell lung cancer patients in Vietnam, a developing nation.

Methods: Five patients with non-small cell lung cancer at stages III - IV were enrolled in the 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.

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.

A case of response to combination treatment with autologous immunotherapy and bevacizumab in advanced non-small cell lung cancer.

Natural killer (NK) cells have developed as a potent tool in cancer immunotherapy. Especially, patients who have failed in the first-line or maintenance treatment received a good response with immunotherapy in association with other approaches. We report the case of a 61-year-old male patient with programmed cell death ligand - 1(PD-L1) expression in advanced non-small cell lung cancer (NSCLC) (stage IV).

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.

Understanding the epidemiology, clinical characteristics, knowledge and barriers to treatment and prevention of malaria among returning international laborers in northern Vietnam: a mixed-methods study.

Background: With the decline in local malaria transmission in Vietnam as a result of the National Malaria Control Program (NMCP) elimination activities, a greater focus on the importation and potential reintroduction of transmission are essential to support malaria elimination objectives.

Methods: We conducted a multi-method assessment of the demographics, epidemiology, and clinical characteristics of imported malaria among international laborers returning from African or Southeast Asian countries to Vietnam. Firstly, we conducted a retrospective review of hospital records of patients from January 2014 to December 2016.

The nexus between environmental regulation and ecological footprint in OECD countries: empirical evidence using panel quantile regression.

Environmental regulation is an important tool for policymakers to achieve environmental goals. To better understand the role of environmental regulation in protecting the ecosystem, this paper offers a new perspective on exploring the heterogeneous impact of environmental policy stringency on the ecological footprint in 27 OECD countries during the period 1990-2015. An advanced economic method, panel quantile regression, is conducted to deal with the non-normality and unobserved individual heterogeneity across countries.

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.

Nitrous oxide-induced predominantly motor neuropathies: a follow-up study.

Objectives: Recreational nitrous oxide (NO) abuse is increasingly popular among youth. We report a systematic clinical, electrophysiological and biological follow-up of patients with neuropathy caused by NO.

Methods: We retrospectively report seven patients with neuropathy attributed to NO abuse and their comprehensive follow-up.

The Contribution of Digital Health in the Response to Covid-19 in Vietnam.

Emerging from early of 2020, the COVID-19 pandemic has become one of the most serious health crisis globally. In response to such threat, a wide range of digital health applications has been deployed in Vietnam to strengthen surveillance, risk communication, diagnosis, and treatment of COVID-19. Digital health has brought enormous benefits to the fight against COVID-19, however, numerous constrains in digital health application remain.

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.

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.