Background: Health-related quality of life (HRQoL) is an important indicator for designing care and treatment services patients with diabetes. This especially true given its rapid increase among the elderly population in Vietnam. HRQoL data diabetic Vietnamese are currently limited. study aimed to 1) measure type 2 diabetes (T2DM) Vietnam 2) identify related factors their relationship HRQoL. Patients methods: A cross-sectional was conducted. We recruited 171 aged ≥60 years T2DM at Outpatient...

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...

Abstract Background Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due study genotype‐phenotype relationship. Methods A large cohort 212 Vietnamese patients from 204 families was recruited. utilized Multiplex Ligation‐dependent Probe Amplification identify deletion or rearrangement followed complete gene sequencing map...

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...

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...

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....

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

The study aimed to evaluate the indications and describe aortic valve reconstruction techniques by Ozaki's procedure in Vietnam report mid-term outcomes of this technique Vietnam.Between June 2017 December 2019, 72 patients diagnosed with isolated disease, a mean age 52.9 (19-79 years old), male:female ratio 3:1 underwent surgery at Cardiovascular Center, E Hospital, Vietnam.The diseases consisted stenosis (42%), regurgitation (28%), combination both (30%). In addition, proportion valves...

Tran, Thinh Huy MD, PhD; Luu, Binh Thi Pham, Anh Duc; Luong, Long Hoang MD; Nguyen, Lan Ngoc Bich Van Hung Bui, The-Hung Ta, Thanh Khanh PhD Author Information

Proteoglycan (PG) is a type of glycoprotein which forms an extracellular matrix with collagen and hyaluronic acid to maintain articular cartilage, synovial membrane, fluid. This study aimed evaluate the antiosteoarthritis effects salmon nasal cartilage-derived PG in alleviating knee osteoarthritis rat model. Knee was induced rats by intra-articular injection monosodium iodoacetate (MIA), 3 mg/knee, right knee. Animals were then administered either diclofenac (3 mg/kg body weight [b.w]/day)...

Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and turnover, with TCIRG1-associated ARO leading to autosomal infantile malignant (OPTB1, MIM entry number # 259700). While most patients present clinical course shortened lifespan, few cases mild associated TCIRG1 have been reported recently. In this study we report rare case non-malignant osteopetrosis, detail characterization, genetic analysis underwent...

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

In this study, the effect of Moringa oleifera extracts were investigated on an immunosuppressed model cyclophosphamide-induced Swiss mice. M. seed and root (2.0 g kg−1 body wt) administered orally for 7 consecutive days; cyclophosphamide (CP) (200 mg i.p.) was by IV 4th day. Results indicated that seeds roots ameliorated immunosuppressive effects CP delayed type hypersensitivity (DTH) response, leukocyte counts, relative organ weight, IgM concentration, serum TNF-α assay micro-histological...

Objectives: To describe the clinical and paraclinical characteristics of chronic otitis media with tympanic membrane perforation evaluate results surgical treatment perforation. Materials methods: 75 patients were diagnosed underwent surgery at Hue University Medicine Pharmacy Hospital Central from May 2020 to September 2021. Results: The disease was more common in women, mainly age group 16-30 years old (34.7%). Common preoperative symptoms are hearing loss tinnitus. main reason for a...

The bidirectional Glenn (BDG) shunt operation serves as temporary surgery for the treatment of single-ventricle physiology with eventual Fontan procedure. In some cases, procedure can be performed without support a cardiopulmonary bypass (CPB) machine. this study, we present surgical outcomes off-pump BDG use veno-atrial to decompress superior vena cava (SVC) during clamping time.A cohort 23 patients underwent operations at Cardiovascular Center, E Hospital. All were operated on using...

Background: Hypertrophic Cardiomyopathy (HCM) is one of the leading causes sudden cardiac death in adults.HCM inherited an autosomal dominant manner; however, genetic etiology disease not fully explained and studies on hereditary characteristics family trees are still underway. Methods: Ten HCM patients 31 their relatives were recruited. Targeted sequencing for 4 related-genes, including MYH7 , MYBPC3 TNNT2, TNNI3, using targeted next-generation (NGS) was carried out. Demographic, clinical,...

Abstract Background Mid-aortic syndrome (MAS) is characterized by the congenital coarctation of abdominal aorta, and limb claudication, hypertension. The etiology this disorder very diverse often manifests in conjunction with Takayasu's arteritis, Williams-Beurens syndrome, neurofibromatosis. isolated mid-aortic rare only a few cases reported literature. Case presentation A 45 years old man was admitted to Emergency Department sudden muscle weakness facial paralysis on left side. Imaging...

Total femoral replacement (TFR) is a salvage surgical procedure that has been indicated mainly for oncologic indication to avoid lower limb amputation but recently non-oncological disorders. We report the case of 63-year-old male with chronic osteomyelitis left femur, severe pain and bone deformation, risk in this patient was very high. The underwent total femur modular mega-prosthesis. TFR conducted two phases. first one consists resection followed by placement antibiotic cement; second...