X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan

Abstract.introduction.and.importance: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.Case presentation: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth.Clinical discussion: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth.Conclusion: Diagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle

Learning spatiotemporal statistical shape models for non-linear dynamic anatomies

Numerous clinical investigations require understanding changes in anatomical shape over time, such as in dynamic organ cycle characterization or longitudinal analyses (e.g., for disease progression). Spatiotemporal statistical shape modeling (SSM) allows for quantifying and evaluating dynamic shape variation with respect to a cohort or population of interest. Existing data-driven SSM approaches leverage information theory to capture population-level shape variations by learning correspondence-based (landmark) representations of shapes directly from data using entropy-based optimization schemes. These approaches assume sample independence and thus are unsuitable for sequential dynamic shape observations. Previous methods for adapting entropy-based SSM optimization schemes for the spatiotemporal case either utilize a cross-sectional design (ignoring within-subject correlation) or impose other limiting assumptions, such as the linearity of shape dynamics. Here, we present a principled approach to spatiotemporal SSM that relaxes these assumptions to correctly capture population-level shape variation over time. We propose to incorporate modeling the underlying time dependency into correspondence optimization via a regularized principal component polynomial regression. This approach is flexible enough to capture non-linear temporal dynamics while encoding population-specific spatial regularity. We demonstrate our method’s efficacy on synthetic data and left atrium segmented from cardiac MRI scans. Our approach better captures the population modes of variation and a statistically significant time dependency than existing methods

3-Methyl-1H-pyrrolo[2,1-c][1,4]oxazin-1-one

In the title mol­ecule, C8H7NO2, all the non-H atoms lie essentially in the same plane (r.m.s. deviation = 0.019 Å) In the crystal structure, weak inter­molecular C—H⋯O inter­actions link mol­ecules into chains along [100]. In addition, there are π–π stacking inter­actions between mol­ecules related by the c-glide plane, with alternating centroid–centroid distances of 3.434 (2) and 3.639 (2) Å

Preventive role of Withania somnifera on hyperlipidemia and cardiac oxidative stress in streptozotocin induced type 2 diabetic rats

Purpose: The present study was intended to investigate the preventive role of Withania somnifera (WS) on hyperlipidemia and oxidative stress in the heart of streptozotocin (STZ)-induced type 2 diabetic rats.Methods: Single intraperitoneal injection of STZ (100 mg/kg) was given to 2 days rat pups to induce type 2 diabetes mellitus. Diabetes was confirmed 90 days after the administration of STZ by measuring blood glucose level. WS (200 and 400 mg/kg) was administered orally once a day for 5 weeks after the confirmation of diabetes. Glucose, lactate dehydrogenase (LDH), creatinine kinase (CK), total cholesterol (TCh), triglycerides (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), verylow density lipoprotein cholesterol (VLDL-C) and markers of oxidative stress parameters like lipid peroxidation (LPO), reduced glutathione (GSH), glutathione peroxidase (GPx), glutathione reductase (GR), glutathione-S-transferase (GST), superoxide dismutase (SOD) and catalase (CAT) were evaluated in the heart of type 2 diabetic rats.Results: Oral administration of WS for 5 weeks resulted in a significant (P<0.001) reduction in glucose, LDH, CK, TC, TG, LDL-C, VLDL-C levels with significant elevation of HDL-C levels. On the other hand, WS treated diabetic rats significantly (P<0.01-P<0.001) reduced the elevated levels of LPO, increased levels of antioxidant enzymes (i.e, GSH, GPx, GR, GST, SOD and CAT).Conclusion: These findings propose the role of hyperlipidemia and cardiac oxidative stress in type 2 diabetic rats and suggested protective effect of WS in this animal model.Keywords: Withania somnifera; Hyperlipidemia; Oxidative stress; Streptozotocin; Type 2 diabete

Neutral-point Voltage Control of Three-level NPC Inverter for Three-phase APF based on Zero-sequence Voltage Injection

© 2019 IEEE. Active Power Filters (APF) have already adopted the three-level inverter topology in medium-voltage and high-power applications for solving power-quality problems. The Neutral-point voltage clamped (NPC) Inverter because of its robustness has become a matured and broadly used topology. It is necessary to maintain the neutral-point voltage at the DC-side as close to zero as possible. The focus of this paper is on the neutral-point voltage control of the three-level NPC inverter based on multicarrier PWM by manipulating the dwell time of small vectors by injecting a zero-sequence voltage into the modulating signal. The effectiveness of the presented method on a three-level NPC inverter is validated via simulation in MATLAB/Simulink. The results confirm the efficacy of the method in maintaining the neutral-point voltage at a minimum value with the desired overall good APF compensation characteristics

Postpartum spontaneous dissection of the first obtuse marginal branch of the left circumflex coronary artery causing acute coronary syndrome: a case report and literature review

Spontaneous coronary artery dissection (SCAD) is a very rare cause of acute coronary syndromes in young otherwise healthy patients with a striking predilection for the female gender. The pathological mechanism has not been fully clarified yet. However, several diseases and conditions have been associated with SCAD, such as atherosclerosis, connective tissue disorders and the peripartum episode. In this paper we present a review of the literature, discussing the possible mechanisms for SCAD, therapeutic options and prognosis. The review is illustrated with two SCAD patients who had a recurrence of a spontaneous dissection in another artery within a few days after the initial event. Because of the susceptibility to recurrent spontaneous dissections we propose at least one week of observation in hospital. Further, we will elaborate on the possible conservative and invasive treatment strategies in the acute phase of SCAD. Primary percutaneous coronary intervention remains the reperfusion strategy of choice; however, in small and medium-sized arteries with normalised flow conservative treatment is defendable. In addition, after the acute phase evaluation of possible underlying diseases is necessary, because it affects further treatment. (Neth Heart J 2008;16:344-9.

Hepato- and nephro-protective as well as hypoglycemic effects of sea buckthorn berries (Hippophae rhamnoides L.) in rabbits and humans

The hepato- and nephro-protective effects of sea buckthorn berries (Hippophae rhamnoides L) were investigated in paracetamol-induced toxicity in animals and hypoglycemic effects in type II diabetic patients. Crude drug preparation and its methanol extract have shown a profound decrease in paracetamol-induced elevated serum levels of liver and kidney functions under investigation, which suggests a possible therapeutic role of its constituents in hepatic injury and altered kidney functions. Similarly, in human patients with raised glucose levels, sea buckthorn shows hypoglycemic effect which could likely make it a potential therapeutic agent to mange type II diabetes mellitus. However, further investigations are required to unveil the mechanism of action of sea buckthorn preparations in these ailments.Colegio de Farmacéuticos de la Provincia de Buenos Aire

Statistical shape modeling of multi-organ anatomies with shared boundaries

Introduction: Statistical shape modeling (SSM) is a valuable and powerful tool to generate a detailed representation of complex anatomy that enables quantitative analysis of shapes and their variations. SSM applies mathematics, statistics, and computing to parse the shape into some quantitative representation (such as correspondence points or landmarks) which can be used to study the covariance patterns of the shapes and answer various questions about the anatomical variations across the population. Complex anatomical structures have many diverse parts with varying interactions or intricate architecture. For example, the heart is a four-chambered organ with several shared boundaries between chambers. Subtle shape changes within the shared boundaries of the heart can indicate potential pathologic changes such as right ventricular overload. Early detection and robust quantification could provide insight into ideal treatment techniques and intervention timing. However, existing SSM methods do not explicitly handle shared boundaries which aid in a better understanding of the anatomy of interest. If shared boundaries are not explicitly modeled, it restricts the capability of the shape model to identify the pathological shape changes occurring at the shared boundary. Hence, this paper presents a general and flexible data-driven approach for building statistical shape models of multi-organ anatomies with shared boundaries that explicitly model contact surfaces.Methods: This work focuses on particle-based shape modeling (PSM), a state-of-art SSM approach for building shape models by optimizing the position of correspondence particles. The proposed PSM strategy for handling shared boundaries entails (a) detecting and extracting the shared boundary surface and contour (outline of the surface mesh/isoline) of the meshes of the two organs, (b) followed by a formulation for a correspondence-based optimization algorithm to build a multi-organ anatomy statistical shape model that captures morphological and alignment changes of individual organs and their shared boundary surfaces throughout the population.Results: We demonstrate the shared boundary pipeline using a toy dataset of parameterized shapes and a clinical dataset of the biventricular heart models. The shared boundary model for the cardiac biventricular data achieves consistent parameterization of the shared surface (interventricular septum) and identifies the curvature of the interventricular septum as pathological shape differences

Multi-level multi-domain statistical shape model of the subtalar, talonavicular, and calcaneocuboid joints

Traditionally, two-dimensional conventional radiographs have been the primary tool to measure the complex morphology of the foot and ankle. However, the subtalar, talonavicular, and calcaneocuboid joints are challenging to assess due to their bone morphology and locations within the ankle. Weightbearing computed tomography is a novel high-resolution volumetric imaging mechanism that allows detailed generation of 3D bone reconstructions. This study aimed to develop a multi-domain statistical shape model to assess morphologic and alignment variation of the subtalar, talonavicular, and calcaneocuboid joints across an asymptomatic population and calculate 3D joint measurements in a consistent weightbearing position. Specific joint measurements included joint space distance, congruence, and coverage. Noteworthy anatomical variation predominantly included the talus and calcaneus, specifically an inverse relationship regarding talar dome heightening and calcaneal shortening. While there was minimal navicular and cuboid shape variation, there were alignment variations within these joints; the most notable is the rotational aspect about the anterior-posterior axis. This study also found that multi-domain modeling may be able to predict joint space distance measurements within a population. Additionally, variation across a population of these four bones may be driven far more by morphology than by alignment variation based on all three joint measurements. These data are beneficial in furthering our understanding of joint-level morphology and alignment variants to guide advancements in ankle joint pathological care and operative treatments

Dielectric properties of (CuO,CaO₂, and BaO)y/CuTl-1223 composites

We synthesized (CuO, CaO₂, and BaO)y/Cu₀,₅Tl₀,₅Ba₂Ca₂Cu₃O₁₀–δ (y = 0, 5%, 10%, 15%) composites by solid-state reaction and characterized by x-ray diffraction, scanning electron microscopy, dc-resistivity, and Fourier transform infrared spectroscopy. Frequency and temperature dependent dielectric properties such as real and imag-inary part of dielectric constant, dielectric loss, and ac-conductivity of these composites are studied by capacitance and conductance measurement as a function of frequency (10 kHz to 10 MHz) and temperature (78 to 300 K). The x-ray diffraction analysis reveals that the characteristic behavior of Cu₀,₅Tl₀,₅Ba₂Ca₂Cu₃O₁₀–δ supercon-ductor phase and its structure is nearly undisturbed by doping of nanoparticles. The scanning electron microsco-py images show the improvement in the intergranular links among the superconducting grains with increasing nanoparticles concentration. Microcracks are healed up with the inclusion of these nanoparticles and superconduct-ing volume fraction is also increased. The dielectric properties of these composites strongly depend upon the fre-quency and temperature. The zero resistivity critical temperature and dielectric properties show opposite trend with the addition of nanoparticles in Cu₀,₅Tl₀,₅Ba₂Ca₂Cu₃O₁₀–δ superconductor matrix