SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria

Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form of hypophosphatemia with hyperphosphaturia, hypercalciuria, and hypercalcemia. In two reports on six affected kindreds with HHRH, the disease was mapped to chromosome 9q34, which contains the SLC34A3 gene that encodes the renal type 2c sodium-phosphate cotransporter. Our objective was to define the clinical course of these cases in a family with HHRH and to screen for SLC34A3 gene in order to determine whether these mutations are responsible for HHRH.Methods: After clinical and biochemical evaluations, the entire SLC34A3 gene was screened using PCR amplification followed by direct sequencing technique. In this paper, we describe a new kindred with HHRH and a case of progressive and complicated HHRH presenting at age 27 years.Results: We found 101-bp deletion in intron 9 of the SLC34A3 gene. The index patient was homozygous for this mutation which has been previously reported in a Caucasian population. This is the first report for presence of SLC34A3 intron 9 deletion in an Iranian population.Conclusions: These data showed that HHRH can be easily missed or underdiagnosed. Genetic evaluation of patients with familial hypercalciuria, hypophosphatemia and nephrolithiasis is needed for further information on the prevalence and management of this rare disorder. Conflict of interest:None declared.     

Evaluation of intraocular penetration of levofloxacin by high performance liquid chromatography

AIM: To evaluate the levofloxacin eye drop into human eye penetration, levofloxacin eye drop concentrations in human ocular aqueous of 33 patients undergoing cataract surgery were measured by high performance liquid chromatography (HPLC). METHODS: Totally 33 volunteer patients who scheduled for phacoemulsification surgery received one drop of levofloxacin every 6h for 3d before and on the day of surgery, administration of drug was stopped 1h before surgery. Levofloxacin concentration in aqueous humor was measured by HPLC method with fluorescence detector. RESULTS: A simple, effective and sensitive HPLC method for determination of levofloxacin in human ocular aqueous was validated. Linearity was shown for levofloxacin concentration over a wide range of 1.95×10-3-1.50 μg/mL. The mean aqueous level of levofloxacin was 0.3399±0.03405 μg/mL. CONCLUSION: Results from the present study demonstrate that topical administration of levofloxacin 0.5% before cataract surgery with routine dose (one drop every 6h) unable to reach MIC90 for most common microorganism causing acute bacterial endophthalmitis.     

Mussel inspired ZIF8 microcarriers: a new approach for large-scale production of stem cells

Metal–organic frameworks (MOFs) have high porosity, large surface area, and tunable functionality and have been widely used for drug loading. The aim of this study was to exploit unique features of zeolitic imidazolate framework-8 (ZIF8) to develop an innovative composite microcarrier (MC) for human mesenchymal stem cells (hMSCs) adhesion and proliferation. ZIF8 MCs were prepared by immobilization of polydopamine/polyethyleneimine (PDA/PEI) and ZIF8 on the surface of polystyrene beads. The chemical properties of MCs such as coating stability and homogeneity were characterized by different techniques such as ATR-FTIR, XRD, EDX, SEM, and contact angle. The prepared MCs were tested using human adipose-derived mesenchymal stem cells (hADSCs) in both static and dynamic conditions, and results were compared to a commercially available MC (Star-Plus), polydopamine coated MCs and amine-functionalized MCs as a control. Results show that PDA/PEI/ZIF8 coated MCs (in short: ZIF8 MCs) provides an excellent biocompatible environment for hADSCs adhesion and growth. In conclusion, ZIF8 MCs represent suitable and low-cost support for hADSCs culture and expansion, which can maximize cell yield and viability while preserving hADSCs multipotency. The present findings have revealed this strategy has the potential for chemical and topographical modification of MCs in tissue engineering applications.

Mussel inspired ZIF8 microcarriers with high surface area, biocompatibility, and nanoscale surface roughness are applied to enhance mesenchymal stem cell attachment and proliferation in 3D cell culture.     

Vacancy-induced interfacial ferromagnetic features in SmFeO3-filled graphitic carbon foam

We report a novel structural and magnetic investigation of carbon foam (CFM) materials filled with SmFeO₃ crystals produced by (1) high temperature fusion between Sm₂O₃- and Fe₃C-filled carbon onions and (2) annealing of iron filled CFM with nanosized Sm₂O₃. Presence of a defect-rich monolayer-like CFM arrangement characterized by sharp interfaces with a SmFeO₃ single-crystal phase is demonstrated through TEM and HRTEM. Further, the presence of intense sp³-rich features with variable carbonate content is evidenced by XPS and Raman spectroscopy. Complementary VSM, SQUID and ESR show also presence of intrinsic magnetization features which appeared to be attributable to the interfacial vacancy-rich regions of the graphitic CFM layers, as confirmed by Raman spectroscopy. Together with these signals, possible ferromagnetic contributions from the SmFeO₃ phase and α-Fe impurities are reported. These observations highlight therefore the presence of switchable interfacial magnetization features at the carbon/SmFeO₃ interface due to the variable concentrations of vacancies at the CFM interface, opening new directions towards applications in magnetic and interfacial-driven ferroelectric devices.

We report a novel structural and magnetic investigation of carbon foam (CFM) filled with SmFeO₃ crystals produced by (1) high temperature fusion between Sm₂O₃ and Fe₃C-filled carbon onions, and (2) annealing of iron filled CFM with nanosized Sm₂O₃.     

Priorities for future public health research in orofacial clefts.

The National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention conducted a workshop in January 2006, entitled "Prioritizing a Research Agenda for Orofacial Clefts." The goals of the meeting were to review existing research on orofacial clefts (OFCs), identify gaps in knowledge that need additional public health research, and develop a prioritized research agenda that can help guide future public health research. Experts in the field of epidemiology, public health, genetics, psychology, speech pathology, dentistry, and health economics participated to create the research agenda. Research gaps identified by the participants for additional public health research included: the roles of maternal nutrition, obesity, and diabetes in the etiology of OFCs; psychosocial outcomes for children with OFCs; the quality of life for families and children with OFCs; and the health care costs of OFCs. To create the research agenda, the participants prioritized the research gaps by public health importance, feasibility, and outcomes of interest. This report summarizes the workshop.     

Cirrhosis induced by bile duct ligation alleviates acetic acid intestinal damages in rats: Involvements of nitrergic and opioidergic systems

Background

Colitis, a colonic inflammatory condition, showed a linkage with hepatobiliary disorders such as cirrhosis. It has been reported that both endogenous opioids and nitric oxide (NO) play critical roles in colitis pathogenesis. Moreover, opioid and NO levels showed elevation in patients with cirrhosis. The aim of this study was to evaluate the effect of cirrhosis on the experimental model of colitis and the possible involvement of opioidergic/nitrergic systems in rats.

Microstructural white matter alterations associated with migraine headaches: a systematic review of diffusion tensor imaging studies

Brain Imaging and Behavior - The pathophysiology of migraine as a headache disorder is still undetermined. Diffusion tensor imaging (DTI) has significantly improved our knowledge about brain...     

Evaluating Possible Mechanisms Linking Obesity to COVID-19: a Narrative Review

Obesity Surgery - Currently, pneumonia caused by the coronavirus disease 2019 (COVID-19) is a pandemic. To date, there is no specific antiviral treatment for the disease, and universal access to...