Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.

Case: We report a 15-year-old adolescent boy being followed up for 6 years with osteogenesis imperfecta (OI). Genetic testing of this child revealed a novel missense variant c.925C>T p.

Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome.

Case: Bohring-Opitz syndrome is characterized by facial dysmorphism, intellectual disability, specific upper-limb posturing, and developmental delay. We report a case of 14-year-old girl with bilateral hip pain and loss of mobility. Clinical exome sequencing showed a proband with a heterozygous pathogenic nonsense variant in ASXL1 gene.

gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.

gene variants lead to a severe type of osteogenesis imperfecta (OI) attributed to defects in the matrix mineralization. We present 18 patients with gene variants leading to severe progressive deforming OI, the largest series in the world to date. These patients were normal at birth and had the first fracture between 2 months to 9 years; progression of deformities was seen in 12 adolescents who became nonambulatory.

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones.

Case report of a linked brittle cornea syndrome type 2 in association with a novel mutation.

A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus. By clinical exome sequencing, a frameshift mutation c.713_716 del TTTG p.

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Osteogenesis imperfecta (OI) is a group of inherited disorders with increased bone fragility and wide genetic heterogeneity. We report the outcome of clinical exome sequencing validated by Sanger sequencing in clinically diagnosed 54 OI patients in Indian population. In 52 patients, we report 20 new variants involving both dominant and recessive OI-specific genes and correlate these with phenotypes.

The relationship between estrogen receptors and microtubule dynamics in post-menopausal rat brain.

Introduction: Estrogen is one of the most important regulators of neuron function. There is a broad consensus that a loss of estrogen is associated with neurodegeneration in the hippocampus which leads to cognitive impairment. Hematopoietic-Pbx-interaction-protein (HPIP) is a novel scaffolding protein which interacts with microtubules and estrogen receptors.

Canadian chronic kidney disease clinics: a national survey of structure, function and models of care.

Background: The goals of care for patients with chronic kidney disease (CKD) are to delay progression to end stage renal disease, reduce complications, and to ensure timely transition to dialysis or transplantation, while optimizing independence. Recent guidelines recommend that multidisciplinary team based care should be available to patients with CKD. While most provinces fund CKD care, the specific models by which these outcomes are achieved are not known.

Synthesis, X-ray diffraction studies, and DFT calculations on hexacoordinated germanium derivatives: the case of germaspirobis(ocanes).

Synthesis of the title compounds, viz. [RN(CH2CHR'O)2]2Ge (1, R = Me, R' = H; 2, R = Me, R' = Ph; 3, R = Ph, R' = H), by the reaction of 2 equiv of corresponding dialkanolamines RN(CH2CHR'OH)2 (4, R = Me, R' = H; 5, R = Me, R' = Ph; 6, R = Ph, R' = H) with (AlkO)4Ge is reported. Composition and structures of all novel compounds were established by 1H and 13C NMR spectroscopy and mass spectrometry as well as elemental analysis data.

[Effect of sodium dodecylbenzenesulfonate and antifoaming agents on the endonuclease activity of Serratia marcescens].

The effect of sodium dodecylbenzene sulfonate (sulfonol) and certain froth breakers on the activity of endonuclease was studied in the cultural broth of Serratia marcescens in order to find out whether sulfonol could be used for limiting the infection. Sulfonol was found to have no effect on the cultural growth; it increased the activity of endonuclease in the cultural broth, and the peak of the activity appeared earlier than in the control medium. Propanol B-400 was shown to be the best froth breaker.

[Effect of cyclic adenosine-3,5-monophosphate and its dibutyryl analog on macromolecule biosynthesis in actively proliferating cells].

The effect of cAMP and its dibutyryl analogue on the biosynthesis of nucleic acids and protein in active proliferating cells was studied. It was shown that cAMP (10(-3)--10(-4)M) caused stimulation of the biosynthesis of DNA and RNA in Ehrlich's ascites carcinoma (EAC) cells and intensification of collagen biosynthesis in the chick embryo cartilage tissue in vitro. Dibutyryl -- cAMP (10(-3)--10(-4)M) has an inhibitory action on the biosynthesis of macromolecules both in EAC cells and embryonic cartilage tissue.