Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor beta receptor type 1 (TGFBR1) or type 2 (TGFBR2) genes. We report on a neonate with the disorder caused by a known TGFBR2 mutation, who developed neonatal-onset progressive dilation of the aortic valve and aneurysms of the aortic root and main pulmonary artery (PA) associated with a large left-to-right shunt via a ventricular septal defect (VSD) and an atrial septal defect. He also had skeletal features (flexion contractures of the fingers, talipes equinovarus, a cleft palate, and joint laxity), mild facial dysmorphisms, and developmental delay.

Inflammatory cytokines regulate glycoprotein subunit beta5 of thyrostimulin through nuclear factor-kappaB.

Thyrostimulin is a heterodimeric hormone comprised of two glycoprotein hormone subunits, namely glycoprotein hormone subunit alpha2 and glycoprotein hormone subunit beta5 (GPB5). Immunological studies have revealed that both subunits colocalize in human pituitary corticotroph cells. Although recombinant thyrostimulin protein selectively activates the TSH receptor and has thyrotropic activity in rats, its biological functions have not been clarified.

Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene.

Congenital nephrogenic diabetes insipidus (NDI) is a chronic disorder involving polyuria and polydipsia that results from unresponsiveness of the renal collecting ducts to the antidiuretic hormone vasopressin. Either of the genetic defects in vasopressin V2 receptor or the water channel aquaporin 2 (AQP2) cause the disease, which interfere the water reabsorption at the epithelium of the collecting duct. An unconscious state including a perioperative situation can be life threatening because of the difficulty to regulate their water balance.

Risk factors for early death in neonates with Down syndrome and transient leukaemia.

Transient leukaemia (TL) in neonates with Down syndrome (DS) is characterized by the transient appearance of blast cells in the peripheral blood that resolves spontaneously. Some TL patients die at an early age due to organ failure. Seventy DS patients with TL were studied retrospectively to identify clinical and laboratory characteristics associated with early death (<6 months of age).

Biochemical roles of the oligosaccharide chains in thyrostimulin, a heterodimeric hormone of glycoprotein hormone subunits alpha 2 (GPA2) and beta 5 (GPB5).

Thyrostimulin is a heterodimeric hormone composed of GPA2 and GPB5, and shares the thyroid-stimulating hormone receptor (TSHR). Thyrostimulin has three N-linked oligosaccharide chains, two in GPA2 and one in GPB5. The roles of these N-linked oligosaccharides in secretion, heterodimer formation and signal transduction were analyzed.

The LIM domain homeobox gene isl-1 is a positive regulator of glycoprotein alpha 2 (GPA2), a subunit of thyrostimulin.

Two glycoprotein hormone subunits, glycoprotein hormone subunit alpha (GPA) 2 and glycoprotein hormone subunit beta (GPB) 5, have recently been discovered. When expressed as recombinant proteins, they heterodimerize to form a novel thyrotrophic hormone, thyrostimulin. Recently, we have shown that GPA2 is expressed in both human pancreas and anterior pituitary.

Combating HIV/AIDS in Mainland China: an epidemiological review of prevention and control measures.

Two decades have already passed since the first HIV/AIDS case was described in 1981. Cumulatively, over 20 million people have unfortunately lost their lives, and more than 40 million people are now living with HIV, and most of them are from developing countries. China, as the biggest developing country, has an impact on the epidemic of HIV/AIDS.

Effects of a school-based education program for schistosomiasis control.

The role and effect of school-based education for schistosomiasis control needs to be explored further to raise the standard of health in the widely infected areas over the world. This study investigated the effect, particularly the retention or duration of effect, of a school education program for schistosomiasis control. The study was conducted from September 2000 to February 2001 in a district of Mount Darwin, Zimbabwe.

Ganciclovir therapy for congenital cytomegalovirus infection in six infants.

Background: Congenital cytomegalovirus (CMV) infection is common, and its morbidity rate is high. Ganciclovir (GCV) treatment has been used for congenital CMV infection, but there are few reports on viral loads associated with GCV therapy.

Methods: A real-time PCR assay was used to monitor viral load in 6 cases of symptomatic CMV infection that received GCV therapy.

Evaluation of cytomegalovirus infections transmitted via breast milk in preterm infants with a real-time polymerase chain reaction assay.

Objective: Preterm infants are at greater risk of symptomatic cytomegalovirus (CMV) infection than term infants. Breast milk is the main source of perinatal CMV infections. This study evaluated the kinetics of CMV load in breast milk and the rate of postnatal CMV transmission via breast milk from mothers to their preterm infants.