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To report a case of concurrent pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) with dual PANK2 and OCA2 variants in a Chinese patient who presented with early-onset reduced vision, nyctalopia, and neurological symptoms. Based on the ocular phenotype and provisional diagnosis of rod-cone dystrophy, genetic testing was pursued. Peripheral blood DNA extraction was carried out with the next-generation sequencing technique, which involved a population-specific medical exome virtual panel. Pre- and post-test counseling were carried out by clinical geneticists. Homozygous missense variants in PANK2 {NM_153638.3}:c.655 G>A (p.(Gly219Ser)) and OCA2{NM_025160.6}:c.1327 G>A(p.(Val443Ile)) were identified. The molecular diagnoses of pantothenate kinase associated neurodegeneration (OMIM#234200) and albinism, oculocutaneous, type II (OMIM#203200) were supported by clinical findings. Two rare autosomal recessive diseases, pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) were detected in our patient. Ocular and systemic manifestations, as well as neuroimaging findings were compatible with the diseases identified. Genetic analysis is imperative in making an accurate molecular diagnosis in these rare conditions to allow timely counseling, disease prognostication and management. [ABSTRACT FROM AUTHOR]

Pachychoroid disease spectrum encompasses entities with pathogenesis of choroidal circulatory dysfunction. Advancements in ophthalmic imaging enables better understanding of its structural and functional implications. This perspective article covers clinical features, ocular imaging findings, and management options of pachychoroid spectrum diseases including central serous chorioretinopathy, pachychoroid pigment epitheliopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy or aneurysmal type 1 neovascularization, focal choroidal excavation, and peripapillary pachychoroid syndrome. [ABSTRACT FROM AUTHOR]

Comparative genomic studies have identified many proteins that are found only in various Chlamydiae species and exhibit no significant sequence similarity to any protein in organisms that do not belong to this group. The CT670 protein of Chlamydia trachomatis is one of the proteins whose genes are in one of the type III secretion gene clusters but whose cellular functions are not known. CT670 shares several characteristics with the YscO protein of Yersinia pestis, including the neighboring genes, size, charge, and secondary structure, but the structures and/or functions of these proteins remain to be determined. Although a BLAST search with CT670 did not identify YscO as a related protein, our analysis indicated that these two proteins exhibit significant sequence similarity. In this paper, we report that the CT670 crystal, solved at a resolution of 2 [Angstrom], consists of a single coiled coil containing just two long helices. Gel filtration and analytical ultracentrifugation studies showed that in solution CT670 exists in both monomeric and dimeric forms and that the monomer predominates at lower protein concentrations. We examined the interaction of CT670 with many type III secretion system-related proteins (viz., CT091, CT665, CT666, CT667, CT668, CT669, CT671, CT672, and CT673) by performing bacterial two-hybrid assays. In these experiments, CT670 was found to interact only with the CT671 protein (YscP homolog), whose gene is immediately downstream of ct670. A specific interaction between CT670 and CT671 was also observed when affinity chromatography pull-down experiments were performed. These results suggest that CT670 and CT671 are putative homologs of the YcoO and YscP proteins, respectively, and that they likely form a chaperone-effector pair. doi: 10.1128/JB.01479-09

Research has been conducted on the copper molybdate family. The structures and magnetic properties of bimetallic oxides [Cu(3,4'-bpy)MoO (sub)4], [Cu(3,3'-bpy) (sub)0.5 MoO (sub)4], and [Cu(4,4'-bpy) (sub)0.5 MoO (sub)4].1.5H (sub)2 O have been studied and the details are presented.

Results reveal that the new series of germanium antimonides are metallic and those containing RE = Nd, Sm, Gd-Dy exhibit kinks in their temperature resistivity behavior. Further, the compounds reveal long-range antiferromagnetic ordering in their atomic structures.

The structural characterization of a new series of germanium antimonides show that the rare-earth atom trigonal prism columns are separated by Ge and Sb atoms. The atoms exhibit interactions between them ranging from strong covalent bonds to intemediate partial bond to weak van der Waals forces.

A study is conducted on the nonstoichiometric ternary arsenide Ba0.8Hf12As17.7. The compound was synthesized by reacting the elements at 950 degrees Centrigrade in a tin flux. It is shown that Ba0.8Hf12As17.7 exhbits the unique feature of As ribbons inserted between isolated columnar assemblies of Hf6 trigonal prisms. The behavior and features of As-As bonding in Ba0.8Hf12As17.7 were also determined using extended Huckel band structure calculations.

The new Zintl phase Ba2Sn3Sb6 was synthesized and its structure was analyzed. Its structure is composed of large channels constructed from an anionic framework built up from Sn-centered trigonal pyramids and tetrahedra, as well as zigzag chains of Sb atoms. Ba2+ cations and additional isolated zigzag Sb-Sb chains were found within the channels. Ba2SnSb6 is a mixed-valence compound containing both tin(II) and tin(IV).

Background The predicted growth of Canadians aged 65+ and the resultant rise in the demand for specialized geriatric services (SGS) requires physician resource planning. We updated the 2011 Canadian Geriatrics Society physician resource inventory and created projections for 2025 and 2030. Methods The number and full-time equivalents (FTEs) of geriatricians and Care of the Elderly (COE) physicians working in SGS were determined. FTE counts for 2025 and 2030 were estimated by accounting for retirements and trainees. A ratio of 1.25/10,000 population 65+ was used to predict physician resource requirements. Results Between 2011 and 2019 the number of geriatricians and COE physicians increased from 276 (235.8 FTEs) and 128 (89.9 FTEs), respectively, to 376 (319.6 FTEs) and 354 (115.5 FTEs). This increase did not keep pace with the 65+ population growth. The current gap between supply and need is expected to increase. Discussion The physician supply gap is projected to widen in 2025 and 2030. Increased recruitment and interdisciplinary team-based care, supported by enhanced funding models, and full integration of COE physicians in SGS could reduce this increasing gap. In contrast to pediatrician supply in Canada, the specialist physician resources available to the population 65+ reflect a disparity. [ABSTRACT FROM AUTHOR]