CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.

BACKGROUND: The familial occurrence of esophageal atresia and tracheoesophageal fistula (EA-TEF) is very rare and the genetic basis behind the isolated familial cases have not been identified. A male infant born with EA-TEF and his affected father were evaluated with whole genome sequence to define a genetic causative variation in paternally inherited EA-TEF. CASE REPORT: A male infant was born to 29-years-old, gravida 1, para 1 women by normal vaginal delivery. The patient was diagnosed as Type-C EA-TEF. In his family history, his father was also operated for EA-TEF during neonatal period. He had no associated anomaly despite patent foramen ovale. Genomic DNAs were extracted from peripheral blood of the patient and the father. When causative genes responsible for EA-TEF were filtered out, four different variants in NOTCH2, SAMD9, SUPT20H and CHRND were found. Except the variant found in CHRND (NM_000751.2, c.381C>G, p.(Tyr127Ter)), other three variants were not found to be segregated with the father who has EA-TEF also. This nonsense variant was not found in GnomAD database. CONCLUSION: CHRND variant found in both EA-TEF patient and his affected father suggest that CHRND variant might possibly be considered as one of the causative genetic variants in familial isolated EA-TEF patients.

An Evolutionary Field Theorem: Evolutionary Field Optimization in Training of Power-Weighted Multiplicative Neurons for Nitrogen Oxides-Sensitive Electronic Nose Applications.

Neuroevolutionary machine learning is an emerging topic in the evolutionary computation field and enables practical modeling solutions for data-driven engineering applications. Contributions of this study to the neuroevolutionary machine learning area are twofold: firstly, this study presents an evolutionary field theorem of search agents and suggests an algorithm for Evolutionary Field Optimization with Geometric Strategies (EFO-GS) on the basis of the evolutionary field theorem. The proposed EFO-GS algorithm benefits from a field-adapted differential crossover mechanism, a field-aware metamutation process to improve the evolutionary search quality. Secondly, the multiplicative neuron model is modified to develop Power-Weighted Multiplicative (PWM) neural models. The modified PWM neuron model involves the power-weighted multiplicative units similar to dendritic branches of biological neurons, and this neuron model can better represent polynomial nonlinearity and they can operate in the real-valued neuron mode, complex-valued neuron mode, and the mixed-mode. In this study, the EFO-GS algorithm is used for the training of the PWM neuron models to perform an efficient neuroevolutionary computation. Authors implement the proposed PWM neural processing with the EFO-GS in an electronic nose application to accurately estimate Nitrogen Oxides (NOx) pollutant concentrations from low-cost multi-sensor array measurements and demonstrate improvements in estimation performance.

Blood platelet adhesion to printed von Willebrand factor.

Von Willebrand factor (vWF), a glycoprotein in blood, mediates the adhesion of blood platelets and thus plays a crucial role in hemostasis and thrombosis. Functional coating of surfaces with vWF allows the investigation of in vitro adhesion of blood platelet. We used soft lithography to create a functional patterned substrate. vWF was printed on plasma-treated glass and mica surfaces, producing elongated network-like fibril structures. A minimum layer thickness of 3 nm was observed, corresponding to the height of a monolayer of vWF. The stability of the patterns was verified in a laminar fluid flow, and the bioactivity of the structures was tested with platelet adhesion experiments. Platelets adhered to and spread on printed vWF. These results indicate that printed vWF substrates are stable and functional in typical perfusion experiments, and thus provide a useful tool for studying thrombus formation in vitro.

Influenza vaccine adverse event and effect on acceptability in pediatric residents.

Despite the demonstrated benefits of influenza vaccinations, the coverage is lower than expected among health-care personnel (HCP). In this study we surveyed the attitudes of pediatric residents regarding influenza immunization and adverse reactions. Forty-five female and 35 male pediatric residents with ages ranging from 24 to 28 years were vaccinated with an influenza vaccine on 2 days in the 3rd week of September 2005 by the same nurse. Among our resident, 27 (33.7%) thought the vaccine unnecessary; their vaccine coverage was only 12% in the previous year. Thirteen residents (16%) had soreness at the vaccination site; 7 (8%) had other local reactions that did not interfere with everyday activities, and 16 (20%) had any systemic side effects. The overall rate of side effects from the vaccination was 36.5% (n=29). Twenty of the 29 vaccinees who experienced side effects stated they did not want to receive the vaccine the following year because of the side effects, while 13% in the group without side effects stated the same thing, mainly because of the cost of vaccination. We would like to recommend an influenza vaccination campaign for HCP by employers, but first we must plan to take steps to improve the acceptability of the influenza vaccine among HCP.

A child with vitamin B12 deficiency presenting with pancytopenia and hyperpigmentation.

The authors describe a 16-month-old infant presenting with neurologic developmental regression, severe pancytopenia, excessive skin pigmentation, and tremor resulting from nutritional vitamin B12 deficiency. She had been exclusively breast-fed and had refused to take any other food. Laboratory studies showed severe pancytopenia, a decrease in serum B12 levels, and an increase in urinary methylmalonic acid levels. Bone marrow aspiration was compatible with megaloblastic changes. Schilling test was normal. The serum B12 level of the mother was also low. Megaloblastic anemia resulting from inadequate B12 intake was diagnosed. Parenteral B12 therapy was initiated. The neurologic picture did not completely resolve, but pancytopenia, tremor, and hyperpigmentation of the extremities recovered completely.