The Omenn syndrome-like manifestations might be associated with the oligoclonal proliferation of activated T cells. Analysis of the immunophenotype and TCR Vβ repertoire is helpful to establish the early diagnosis of atypical complete DiGeorge syndrome.

BackgroundX-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Vietnam.MethodsWe investigated the BTK gene mutations and clinical features of four unrelated Vietnamese children.ResultsThe mean ages at onset and at diagnosis were 2.5 and 8 years, respectively. All patients had a medical history of otitis media, pneumonia, and septicemia at the time of diagnosis. Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. We identified one previously reported mutation (c.441G >A) and three novel mutations: two frameshifts (c.1770delG and c.1742 delG), and one nonsense (c.1249A >T).ConclusionsThe delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results further support the importance of molecular genetic testing in diagnosis of XLA.

BackgroundSevere congenital neutropenia (SCN) is an immunodeficiency disease characterized low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. Heterozygous mutations in the ELANE gene coding neutrophil elastase are associated with SCN. Patients with SCN suffer from recurrent bacterial infections and often succumb them. To our knowledge, this is the first report of SCN from Vietnam.Case presentationA 6-year-old boy was admitted due to severe bacterial infection and severe neutropenia. He had recurrent infections from 8 months of age, and was misdiagnosed with tuberculosis and and autoimmune neutropenia in infancy at 21 and 41 months of age, respectively. His medical report has showed severe neutropenia for many times. In direct DNA sequencing analysis, we found an ELANE gene mutation (R81P), which had been confirmed to cause SCN.ConclusionThe missed and delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results indicate further evidence for the role of ELANE in SCN.

Idiopathic nephrotic syndrome (INS) is a major manifestation of chronic idiopathic glomerulonephritis and a common disease in children. The cause and pathogenesis of the disease have not been clarified so far. The treatment is usually a long-term process, from a few months to several years, even decades, including the period of hospitalisation, outpatient treatment period and follow-up period after treatment. The INS patients are negatively affected by the disease and its treatment process. The aim of this study is to assess the health-related quality of life (QOL) of children with INS according to clinical types in Haiphong Children's Hospital. Object: Describe some factors related to the QOL of children with INS. Subjects: 71 patients diagnosed with INS, who are being monitored and treated at Haiphong Children's Hospital from 10/2015 to 05/2016. Methods: Prospective studies, descriptive cross-sectional. QOL of the patients is assessed by the PedsQL 4.0 scale; the higher score shows that the lower QOL. Results: The general QOL score of children with INS (21.24±13.91) was higher than normal children (16.98±10.20). Children with steroid-resistant INS have a higher score (31.62±14.32) than children with steroid-dependent (20.57±9.08) and responsive INS (14.58±6.83). The QOL score of children with one of the symptoms Cushing's face, hirsutism or acne are significantly higher than children without the corresponding symptoms. Children who finished their treatment had a lower score (15.47±7.42) than children being treated (21.33±10.23). The average QOL score has a linear correlation with the duration of INS. Conclusion: The general QOL of children with INS substantially declined compared with that of healthy children. The QOL of children with steroid-dependent and resistant INS is lower than that of the children with steroid-responsive type. The QOL of children with one of the symptoms Cushing's face, hirsutism or acne is significantly lower than that of children without the corresponding symptoms. The QOL of children who completed treatment is higher than the group being treated. The longer the duration of treatment, the more the children's QOL declined.

The paper addresses a problem of efficiently controlling an autonomous underwater vehicle (AUV), where its typical underactuated model is considered. Due to critical uncertainties and nonlinearities in the system caused by unavoidable external disturbances such as ocean currents when it operates, it is paramount to robustly maintain motions of the vehicle over time as expected. Therefore, it is proposed to employ the hierarchical sliding mode control technique to design the closed-loop control scheme for the device. However, exactly determining parameters of the AUV control system is impractical since its nonlinearities and external disturbances can vary those parameters over time. Thus, it is proposed to exploit neural networks to develop an adaptive learning mechanism that allows the system to learn its parameters adaptively. More importantly, stability of the AUV system controlled by the proposed approach is theoretically proved to be guaranteed by the use of the Lyapunov theory. Effectiveness of the proposed control scheme was verified by the experiments implemented in a synthetic environment, where the obtained results are highly promising.