Bidirectional Glenn operation without cardiopulmonary bypass: Single center experience and results.

Background: The bidirectional Glenn (BDG) shunt operation serves as temporary surgery for the treatment of single-ventricle physiology with the eventual Fontan procedure. In some cases, the procedure can be performed without the support of a cardiopulmonary bypass (CPB) machine. In this study, we present the surgical outcomes of off-pump BDG operation with the use of a temporary veno-atrial shunt to decompress the superior vena cava (SVC) during clamping time.

ELN missense variant in patient with mid-aortic syndrome case report.

Background: Mid-aortic syndrome (MAS) is characterized by the congenital coarctation of the abdominal aorta, abdominal and limb claudication, and hypertension. The etiology of this disorder is very diverse and often manifests in conjunction with Takayasu's arteritis, Williams-Beurens syndrome, and neurofibromatosis. The isolated mid-aortic syndrome is very rare with only a few cases reported in the literature.

Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.

Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO being more common leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of non-malignant TCIRG1-associated osteopetrosis have been reported. 24-year-old female patient came to us with limp gait, hip pain in both sides, and severe stiffness.

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.

Total femur replacement in a patient with chronic persistence osteomyelitis - A case report.

Introduction And Importance: Total femoral replacement (TFR) is a salvage surgical procedure that has been indicated mainly for oncologic indication to avoid lower limb amputation but has recently been indicated for non-oncological disorders.

Case Presentation: We report the case of a 63-year-old male with chronic osteomyelitis of the left femur, severe pain and bone deformation, the risk of amputation in this patient was very high. The patient underwent total femur replacement (TFR) with a modular mega-prosthesis.

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.

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.

Variation of Mitochondrial DNA HV1 AND HV2 of the Vietnamese Population.

Background: The sequence polymorphism of mitochondrial DNA (mtDNA) hypervariable segment 1 (HV1) and hypervariable segment 2 (HV2) is studied and applied to genetic diversity and human evolution assessment, forensic genetics, consanguinity determination, and mitochondrial disease diagnosis.

Methods: The study identified the variations of HV1 and HV2 of 517 unrelated Vietnamese individuals in Kinh, Muong, Cham, and Khmer ethnic. We performed sequencing of two hypervariable segments of mitochondrial DNA: HV1 and HV2.

Mosaicism in carrier of Duchenne muscular dystrophy mutation - Implication for prenatal diagnosis.

Objective: Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing is required for all female family members. However, there are cases mutation analysis cannot detect any mutation due to a phenomenon called mosaicism. The case report describes a case of mosaicism in a DMD carrier and discusses the approach in diagnosis and counseling of familial disorder.

Health-related quality of life in elderly diabetic outpatients in Vietnam.

Background: Health-related quality of life (HRQoL) is an important indicator for designing care and treatment services for patients with diabetes. This is especially true given its rapid increase among the elderly population in Vietnam. HRQoL data in elderly diabetic Vietnamese are currently limited.

Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion.

Objective: The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to be performed in a subsequent pregnancy in the family.

Case Report: The father showed a SEA-HPFH thalassemia trait phenotype, while his genotype revealed that he was heterozygous for the SEA-HPFH deletion; The mother genotype was heterozygote for IVS-II-654 mutation; the second child had co-inherited both parental mutations and was, thus, a compound heterozygote for β-thalassemia (IVS-II-654)/SEA-HPFH deletion.