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. She had suffered many fractures, bilateral hip osteoarthritis, right leg was 2 cm shorter compared with left leg. Whole Exome Sequencing was conducted, the result and subsequent Sanger's sequencing shown the patient had a compound heterozygous genotype at TCIRG1 (c.1194dup, p.Gly399ArgTer and c.334G>A, p.Gly112Arg), these two variants found were not previously reported. Sanger's sequencing revealed two other siblings whom suffer the same disorder had similar genotype to the proband; the parents were found to be heterozygous. This is the first case of TCIRG1-associated osteopetrosis reported in Vietnam and one of the few cases of nonmalignant TCIRG1-associated osteopetrosis, in which detailed clinical and genetic work-up were performed.

Clinical, Laboratory Characteristic, and Treatment of Human Toxocariasis in Northern Vietnam.

Background: We determined the occurrence frequency of Clinical signs, subclinical characteristics on positive anti-IgG Toxocara ELISA cases, and clinical response results after 1 month of albendazole-specific treatment. Methods: A number of 103 clinically treated patients were studied between 2018 and 2019 in two hospitals. Relevant data are collected from examination and medical records such as age, sex, job, resident, clinical and sub-clinical signs. Sera samples were subjected to anti-IgG Toxocara antigen using ELISA. Results: The median age of the patient was 43.6 ± 14.4 years. The most common symptom groups were the skin and mucosa (88.3%), followed by neurological symptoms (44%). There are 76.7% of patients with risk factors for contact with pet dogs and cats. The majority of eosinophils in the normal range (< 8%) accounted for 85.4%, the major results of the OD value of ELISA were in the group (≥ 0.3-< 1.5) accounted for 75.7%. The skin and mucosa lesions in toxocariasis patients related to IgE values were statistically significant (P <0.05). The effectiveness of anthelmintic treatment is low with nearly half of patients having no clinical symptoms after 1 month of post-treatment. It is statistically significant between exposure to dogs/cats and treatment outcomes on clinical symptoms (P < 0.05). Conclusion: Toxocara infections in Vietnamese people often have skin allergies and liver damage, rarely with severe neurological symptoms. The efficacy of albendazole treatment after one month is not clear. In the near future, research with a confirmatory test other than Anti-IgG Toxocara ELISA is needed to screen for inhospital diagnosis.