Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.

Developmental and epileptic encephalopathies (DEE) refers to a group of rare and severe neurodevelopmental disorders where genetic etiologies can play a major role. This study aimed to elucidate the genetic etiologies of a cohort of 53 Vietnamese patients with DEE. All patients were classified into known electroclinical syndromes where possible. Exome sequencing (ES) followed by a targeted analysis on 294 DEE-related genes was then performed. Patients with identified causative variants were followed for 6 months to determine the impact of genetic testing on their treatment. The diagnostic yield was 38.0% (20/53), which was significantly higher in the earlier onset group (<12 months) than in the later onset group (≥12 months). The 19 identified variants belonged to 11 genes with various cellular functions. Genes encoding ion channels especially sodium voltage-gated channel were the most frequently involved. Most variants were missense variants and located in key protein functional domains. Four variants were novel and four had been reported previously but in different phenotypes. Within 6 months of further follow-up, treatment changes were applied for six patients based on the identified disease-causing variants, with five patients showing a positive impact. This is the first study in Vietnam to analyze the genetics of DEE. This study confirms the strong involvement of genetic etiologies in DEE, especially early onset DEE. The study also contributes to clarify the genotype-phenotype correlations of DEE and highlights the efficacy of targeted ES in the diagnosis and treatment of DEE.

The kinetic profile of clinical and laboratory findings and treatment outcome of patients with toxocariasis.

OBJECTIVES: Human toxocariasis is a widespread zoonosis for which a chemotherapy decision and therapy effectiveness are difficult to determine. We aimed to investigate the kinetic profile of clinical and laboratory findings and treatment outcome of patients with toxocariasis in Vietnam. METHODS: The prospective study was conducted between October 2017 and June 2019. The diagnosis of toxocariasis was established based on clinical, laboratory (eosinophilia, raised IgE concentration) and serological (positive Toxocara IgG ELISA) evaluation as well as the exclusion of another helminthic co-infection. The patients were followed up after seven days, then one, three and six months after chemotherapy by thiabendazole. RESULTS: The study involved 80 patients with a mean age of 41.6 ± 15.2 years of whom 58.8% were female. At three and six months after chemotherapy, most patients demonstrated resolution of clinical signs and symptoms, eosinophil count and IgE concentration but not in the proportion of IgG seropositivity. Skin lesions and eosinophilia resolved earlier than the other symptoms (one month after treatment). About four-fifths of the patients were "cured" after three and six months of follow-up; 33.8% showed side effects to thiabendazole therapy but no severe events were reported. The most common adverse reaction was neurologic symptoms followed by gastrointestinal or skin manifestations which lasted as long as 4 days. CONCLUSIONS: In toxocariasis patients, cutaneous manifestations and eosinophilia resolve more rapidly than other clinical and laboratory findings while IgG titre has a very slow kinetic after therapy. Thiabendazole seems to be a potential alternative for the treatment of human toxocariasis.

Case Report: A Case of Chromoblastomycosis Caused by Fonsecaea pedrosoi in Vietnam.

BACKGROUND: Chromoblastomycosis is a chronic fungal infection of the skin and subcutaneous tissues caused by different melanized fungi. The disease occurs worldwide, particularly in tropical and subtropical regions but not reported in Vietnam. A 47-year-old women was admitted to hospital 103, Hanoi, Vietnam, with a 10-year lasting lesion on backside of her right shank. Diagnosis of chromoblastomycosis was made after discovery of a muriform cell in histopathological examination. A black, slow-growth fungus was isolated and identified as Fonsecaea pedrosoi after molecular analysis. After 1-month treatment with itraconazole, the lesion has significant improvement. CONCLUSION: This is the first case of chromoblastomycosis caused by Fonsecaea pedrosoi reported in Vietnam.

Distribution of Species of Dermatophyte Among Patients at a Dermatology Centre of Nghean Province, Vietnam, 2015-2016.

INTRODUCTION: Vietnam is a tropical country so fungal diseases including dermatophytosis may be prevalent, but epidemiological profiles of agents responsible for the infection have rarely been reported. OBJECTIVE: To find out the distribution of dermatophytes among patients living in a central province of Vietnam. METHODS: We examined dermatophyte infections in patients with lesions suspected of dermatophytosis referred to the Nghean provincial leprosy and dermatology centre from August 2015 to August 2016. The speciation of dermatophyte was performed by conventional and molecular approaches. RESULTS: One hundred and thirty-six patients (90 males and 46 females) were included. Those aged from 11 to 30 contribute 59.1%. The most common agent found was Trichophyton rubrum (66.9%), followed by T. interdigitale (12.5%), T. tonsurans (9.6%), Microsporum incurvatum (8.1%), and the less frequent species were M. canis (2.2%) and T. violaceum (0.7%). Epidermophyton floccosum was not reported. T. rubrum were more common in men (74.4%) than in women (52.2%), while T. interdigitale and M. incurvatum were more common in women (21.7 and 15.2%) than in men (7.8 and 4.4%). Patients infected with Microsporum spp. had small-sized lesions for only 3 months, while those affected by Trichophyton spp. had large-sized lesions with longer duration. CONCLUSION: Trichophyton species are the predominant agents of infection in Nghean province, while Epidermophyton species is absent. Additional investigations are required to clarify the epidemiological profile of dermatophytes in Vietnam.

A Rare Human Case of Dirofilaria repens Infection in the Subcutaneous Posterior Thorax with Molecular Identification.

The emergence of Dirofilarial infections in Asia including Vietnam is a clinically significant threat to the community. We here report a rare case of subcutaneous Dirofilaria repens infection on the posterior thoracic wall in a young woman presenting a painful, itchy, and palpable nodule. The adult worm was identified by mitochondrial cox1 and nuclear ITS-2 sequence determination. The diagnosis was additionally confirmed by 16S rRNA sequencing of the endosymbiont Wolbachia pipientis commonly co-existing with D. repens. This is a rare case of subcutaneous human infection on the posterior thoracic region caused by D. repens.

Clinical and Laboratory Findings among Patients with Toxocariasis in Medic Medical Center, Ho Chi Minh City, Vietnam in 2017-2019.

BACKGROUND: Human toxocariasis is prevalent in many countries but this disease has been rarely reported from Vietnam. We aimed to investigate the clinical and laboratory findings and assess possible association between these findings in patients with toxocariasis in Vietnam. METHODS: A prospectively study, between October 2017 and June 2019 was performed involving 120 toxocariasis patients at Medic Medical Center, Ho Chi Minh City, Vietnam. The diagnosis of toxocariasis was established based on clinical, laboratory (eosinophilia, raised IgE concentration) and serological (positive Toxocara IgG ELISA test) evaluation as well as the exclusion of other helminthic coinfection. RESULTS: The most frequently reported manifestation was of skin (n = 93, 77.5%), including urticarial (n= 69, 57.5%) followed by neurologic, gastrointestinal and pulmonary signs/symptoms. Hepatic involvement occurred in 8.3% of the patients. No significant relationship between clinical findings and laboratory parameters was found except the higher values of eosinophil count and IgE concentration among patients with liver involvement. There was a significant relationship between eosinophil count and IgE concentration (r=0.389, P<0.001). Serological findings did not show a correlation with clinical and other laboratory findings. CONCLUSION: Our data revealed a wide range of clinical symptoms/signs and a high incidence of skin manifestations in patients with toxocariasis. Eosinophil count and IgE concentration are valuable markers for the evaluation of the disease.

Infection of burn wound by Aspergillus fumigatus with gross appearance of fungal colonies.

The morbidity of invasive aspergillosis in burn patients is low but the diagnosis is difficult and the mortality rate is high. A severe burned patient at the Vietnam National Institute of Burn was suspected of fungal wound infection (FWI) with fungal growth on the wound. The diagnosis of FWI caused by Aspergillus fumigatus was made by isolation and histological examination. This may be the first reported case of FWI caused by Aspergillus fumigatus in Vietnam.

Prevalence, Species Distribution, and Related Factors of Fish-Borne Trematode Infection in Ninh Binh Province, Vietnam.

Background. Clonorchis sinensis/Opisthorchis viverrini and minute intestinal flukes (MIF) such as Haplorchis pumilio and H. taichui are fish-borne trematodes (FBT) that may coexist in regions where local people have a habit of eating raw fish like Vietnam. Responses to FBT should be verified according to the data on the distribution of these flukes. This study aims to explore the prevalence of different species of FBT and related factors among local people in a northern province of Vietnam. Methods. A cross-sectional study was conducted in Kim Son and Yen Khanh districts, Ninh Binh province, between March 2016 and March 2017. Four hundred people aged 15 years or older were interviewed and gave stool samples. The FBT eggs in faecal samples were enumerated by modified formalin-ether technique and identified by sequencing of the second internal transcribed spacer (ITS2) region. Result. Among the 400 persons, 19.5% were infected with FBT. On univariate analysis, eating raw fish was the main risk factor (odds ratios (OR)) of 6.769 (95% confidence interval (CI) of 2.655-17.259) followed by being of male gender (3.994 (CI95% 2.117-7.536)) and drinking alcohol (2.680 (CI95% 1.440-4.986)), respectively. There was no risk of increased infection among those living at home without hygienic latrines, those living close to rivers or having ponds, or those raising cats or dogs. By multivariate analysis, FBT infection was only related to the consumption of raw fish and gender. Seventy stool samples with a sufficient amount of faecal matter were subjected to DNA extraction, 42.85% of them yielded DNA production, and all were of Clonorchis sinensis. Conclusion. Results of the study showed the high prevalence of infection of fish-borne trematode, mostly C. sinensis among humans in Ninh Binh province. The prevention of FBT should be strengthened with programs detailed according to the distribution of FBT in different endemic areas.

VHP-Female full-body human CAD model for cross-platform FEM simulations: recent development and validations.

Simulation of the electromagnetic response of the human body relies heavily upon efficient computational models or phantoms. The first objective of this paper is to present an improved platform-independent full-body electromagnetic computational model (computational phantom), the Visible Human Project® (VHP)-Female v. 3.1 and to describe its distinct features and enhancements compared to VHP-Female v. 2.0. The second objective is to report phantom simulation for electric stimulation studies using the commercial FEM electromagnetic solver ANSYS MAXWELL.