Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report.

Angelman syndrome (AS) is an autosomal dominant neurodevelopmental genetic disease with maternal imprint, which is associated with the presence of the abnormal chromosome 15q11-q13, and the loss of maternal specific expression of ubiquitin-protein ligase E3A (UBE3A). The expression levels of UBE3A depend on the parental origin and exhibit tissue specificity. In normal brain tissues, the maternal UBE3A gene is actively expressed, whereas the paternal UBE3A gene is not.

Compound heterozygous mutations in the gene cause Sjögren-Larsson syndrome: a case report.

Sjögren-Larsson syndrome is a rare, autosomal, recessive neurocutaneous disorder caused by mutations in the gene, which encodes the fatty aldehyde dehydrogenase enzyme. Deficiency in fatty aldehyde dehydrogenase results in an abnormal accumulation of toxic fatty aldehydes in the brain and skin, which cause spasticity, intellectual disability, ichthyosis, and other clinical manifestations. We present the clinical features and mutation analyses of a case of SLS.

Hydrogen-Bonding-Assisted Exogenous Nucleophilic Reagent Effect for β-Selective Glycosylation of Rare 3-Amino Sugars.

Challenges for stereoselective glycosylation of deoxy sugars are notorious in carbohydrate chemistry. We herein report a novel strategy for the construction of the less investigated β-glycosidic bonds of 3,5- trans-3-amino-2,3,6-trideoxy sugars (3,5- trans-3-ADSs), which constitute the core structure of several biologically important antibiotics. Current protocol leverages a C-3 axial sulfonamide group in 3,5- trans-3-ADSs as a hydrogen-bond (H-bond) donor and repurposes substoichiometric phosphine oxide as an exogenous nucleophilic reagent (exNu) to establish an intramolecular H-bond between the former and the derived α-oxyphosphonium ion.

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.

Rationale: Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein.

Patient Concerns: A 16-month-old Chinese boy presented with symptoms of movement disorder and growth retardation in his infant period.

3-Aminodeoxypyranoses in Glycosylation: Diversity-Oriented Synthesis and Assembly in Oligosaccharides.

A concise, diversity-oriented approach for the synthesis of naturally occurring 3-amino- and 3-nitro-2,3,6-trideoxypyranose derivatives and analogues thereof from simple sugars has been developed. In addition, we investigated the synthesis of various 3-aminoglycosyl donors and their application in glycosylation reactions. These studies led to the successful synthesis of a tetrasaccharide containing four different 3-aminosugar components using ortho-alkynylbenzoate donors.

Synthesis and anti-proliferative activity evaluation of novel benzo[d][1,3] dioxoles-fused 1,4-thiazepines.

Benzo[d][1,3]dioxoles 1,4-thiazepines remarkable antitumor activities, benzo[d][1,3]dioxoles-fused 1,4-thiazepines, which combine two biologically active heterocyclic cores, are expected to be of pharmacological interest, We therefore envisaged that integrating 1,4-thiazepine and benzo[d][1,3]dioxole moieties in one molecular platform could potentially produce novel compounds with significant synergistic antitumor properties. A series of novel benzo[d][1,3]dioxoles-fused 1,4-thiazepines, designed via molecular hybridization approach, were synthesized in very good yields using one-pot condensation of 3,4-methylenedioxyaniline, aldehydes, and α-mercaptocarboxylic acids under solvent-free condition. The anti-proliferative activities of all the synthesized compounds were assessed on two different human cancer cell lines (Esophageal squamous cell carcinoma Ec9706 and Eca109), and the results showed that compound 4e showed the best anti-tumor activity with IC values of 8.

Repair of rat calvarial defects using Si-doped hydroxyapatite scaffolds loaded with a bone morphogenetic protein-2-related peptide.

Tissue engineering promises therapies ideal for treating conventional large bone injuries and defects. In the present study, we developed a novel Si-HA scaffold loaded with a synthetic BMP-2-related peptide, P28, and tested its ability to repair a critical-sized calvarial defect. We created a calvarial defect (5 mm in diameter) in the parietal bone of 32 rats and implanted one of the following biomaterials: No implant (control), Si-HA, P28/Si-HA, or rhBMP-2/Si-HA.

Role of P311 in interleukin-1α-induced epithelial to myofibroblast transition in kidney tubular epithelial cells.

Tubular epithelial-myofibroblast transition (TEMT) is an important process in renal tubulointerstitial fibrosis. Interleukin-1α (IL-1α) and transforming growth factor-β1 (TGF-β1) have been demonstrated to be key inducers of TEMT. In mouse embryonic fibroblast cells (NIH3T3), P311 protein induces phenotypic changes that are consistent to myofibroblast transformation.

Electrophoretic deposition of zinc-substituted hydroxyapatite coatings.

Zinc-substituted hydroxyapatite nanoparticles synthesized by the co-precipitation method were used to coat stainless steel plates by electrophoretic deposition in n-butanol with triethanolamine as a dispersant. The effect of zinc concentration in the synthesis on the morphology and microstructure of coatings was investigated. It is found that the deposition current densities significantly increase with the increasing zinc concentration.

Stir-fried white pepper can treat diarrhea in infants and children efficiently: a randomized controlled trial.

We evaluated the efficacy and safety of stir-fried white pepper in the treatment of infant and children diarrhea. This was a randomized trial conducted in the pediatric emergency department of the hospital affiliated to Jining Medical College. One hundred seventy four patients were selected from outpatients from 2011 to 2012.

Feasibility study of high-temperature thermoseed inductive hyperthermia in melanoma treatment.

Current treatment modalities for melanoma do not offer satisfactory efficacy. We have developed a new, minimally invasive hyperthermia technology based on radio-frequency hyperthermia. Herein, we investigated the feasibility of using a nickel-copper thermoseed for inductive hyperthermia at a relatively high temperature (46-55 ˚C).