Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to Nonsense Mutations and Different Clinical Manifestations: A Case Report.

Congenital nephrogenic diabetes insipidus (CNDI), a rare hereditary disorder, is characterized by the inability of the kidneys to concentrate urine in response to the antidiuretic hormone arginine vasopressin (AVP); as a result, large volumes of unconcentrated urine are excreted. In addition to the clinical manifestations of CNDI, such as dehydration and electrolyte disturbances (hypernatremia and hyperchloremia), developmental delay can result without prompt treatment. In approximately 90% of cases, CNDI is an X-linked disease caused by mutations in the arginine vasopressin receptor 2 () gene.

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.

Silver-Russell syndrome (SRS) is a representative imprinting disorder. A major cause is the loss of methylation (LOM) of imprinting control region 1 (ICR1) within the domain. ICR1 is a gametic differentially methylated region (DMR) consisting of two repeat blocks, with each block including three CTCF target sites (CTSs).

Protective effects of neuronal nitric oxide synthase inhibitor in mouse brain against MPTP neurotoxicity: an immunohistological study.

We recently reported that neuronal nitric oxide synthase (nNOS) inhibitor, 7-nitroindazole, can protect against 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) neurotoxicity in mice. It protected against both dopamine depletions and tyrosine hydroxylase (TH) positive neuron decreases in the mouse brain. In the present study, we further examined whether 7-nitroindazole can also protect against the alterations of TH-, microtubule-associated protein 2a,b (MAP2)-, glial fibrillary acidic protein (GFAP)-, parvalbumin (PV)-, dopamine transporter (DAT)-, nNOS- or endothelial NOS (eNOS)-positive cells, in comparison with pargyline as a relatively selective inhibitor of the monoamine oxidase-B (MAO-B).

Expression of S-100 protein is related to neuronal damage in MPTP-treated mice.

S-100beta is a calcium-binding protein expressed at high levels in brain and is known as a marker of brain damage. However, little is known about the role of S-100beta protein during neuronal damage caused by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). To determine whether S-100beta protein is induced in glial cells after MPTP treatment, we investigated the expression of S-100 protein immunohistochemically, using MPTP-treated mice.