The Association Between Body Mass Index and 28-day Mortality in Patients With Sepsis: A Retrospective Cohort Study.

Background: Sepsis is a severe clinical syndrome with high morbidity and mortality in intensive care units (ICUs). Body Mass Index (BMI) shows a rising trend of obese patients being admitted to ICUs. The relationship between BMI and the clinical outcome of sepsis remains highly debated.

[The Function of Potassium Channel in G271V Mutants of Benign Familial Neonatal Convulsions].

Objective: To determine the function of potassium channel in G271V mutants of benign familial neonatal convulsions.

Methods: HEK293 cells were transfected with pcDNA3-WT- and / or pcDNA3-G271V- and pcDNA3-WT- The potassium channel function of G271V mutants was assessed using the whole cell patch clamp technique.

Results: G271V mutants did not show currents in the transfected HEK cells, inducing large depolarizing shift of the conductance voltage relationship and slowing down the current activation kinetics.

Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsy.

Kv7 (KCNQ) channels underlying a class of voltage-gated K+ current are best known for regulating neuronal excitability. The first glycine (G) residue in the pore helix of Kv7.2 (KCNQ2) subunit is highly conserved among different classes of Kv7 channel family.

Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.

Background: Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary nephropathies in childhood. We report a neonate with ARPKD presenting with oligohydramnios, enlargement and increased echogenicity of both kidneys shown by antenatal sonograms after a 29-week gestation and died within the first few hours of life.

Methods: The neonate was investigated pathologically post-mortem.

Site-directed mutagenesis of neonatal convulsions associated KCNQ2 gene and its protein expression.

Objective: To study the protocol of construction of a KCNQ2-c.812G>T mutant and its eukaryotic expression vector, the c.812G>T (p.

[Detection of genetic defect within ABCA3 from newborns with respiratory distress syndrome].

Objective: To detect possible relationship between genetic defect within the gene encoding member A3 of the ATP Binding Cassette family (ABCA3) and neonatal respiratory distress syndrome (NRDS), thus to understand the genetic mechanisms of NRDS in Han ethnic group.

Method: The clinical data of 11 cases with NRDS hospitalized in neonatal intensive care unit was investigated. Blood samples were collected from 11 cases with NRDS and 97 unassociated normal individuals.

[Site-directed mutagenesis and protein expression of KCNQ2 gene associated with neonatal convulsions].

Objective: To study the protocol of construction of a KCNQ2-c.812G>T mutant and it's eukaryotic expression vector, the c.812G>T (p.