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Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism

Published on: 24th March, 2021

OCLC Number/Unique Identifier: 9272364196

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
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Rats with Postinfarction Heart Failure: Effects of Propranolol Therapy on Intracellular Calcium Regulation and Left Ventricular Function

Published on: 28th November, 2023

Patients with heart failure may live longer if they receive chronic treatment with beta-adrenergic blocking medications. Unresolved are the mechanisms underlying the beneficial effects and if they may be applied to ischemic heart failure. Rats (n = 28) underwent echocardiographic-Doppler exams one and six weeks following a simulated operation or myocardial infarction (MI). After the first echocardiography, rats were randomized to either no therapy or 500 mg/l of propranolol in their drinking water. The noninfected left ventricular (LV) papillary muscles were used to record isometric contractions and intracellular Ca transients simultaneously.Untreated MI rats had a restrictive LV diastolic filling pattern, decreased systolic function (13% ± 2%), and significant LV dilatation (10.6 ± 0.4 mm vs. 8.9 ± 0.3 mm, MI vs. control). The LV chamber diameters of the propranolol-treated MI rats were 10.6 ± 0.5 mm, and systolic performance (13% ± 2%). Higher LV end-diastolic pressures (27 ± 2 mmHg vs. 20 ± 3 mmHg) and a more constrained LV diastolic filling pattern (increased ratio of early to late filling velocities and faster E wave deceleration rate) were seen in the propranolol-treated animals. Papillary muscle contractility in untreated MI rats was lower (1.6 ± 0.3 g mm²). Furthermore, the inotropic response to isoproterenol was attenuated, and Ca transients were extended. During isoproterenol stimulation, beta-adrenergic blocking administration had no effect on force development (1.6 ± 0.3 g mm²) or the length of Ca transients.Rats with postinfarction heart failure receiving chronic propranolol treatment did not have improvements in systolic function or LV remodeling. Propranolol exacerbated LV diastolic pressures and filling patterns. Additionally, there was no discernible improvement in intracellular contractility following treatment, Calcium control, or beta-adrenergic sensitivity in the myocardium that is not infarcted).
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A Mini Review of Newly Identified Omicron Sublineages

Published on: 18th December, 2023

The ongoing COVID-19 pandemic has seen the evolution of the SARS-CoV-2 virus, resulting in the emergence of various concerning variants with unique biological characteristics. As the pandemic continues, it will be crucial to promptly evaluate the potential of any new variant to cause severe illness. The severity of the latest Omicron sublineages, including BA.5, XBB, BQ.1.18, BA.2, BA.2.75, and EG.5.1, is currently under assessment. This system provides valuable and essential information for rapidly assessing the threat posed by new versions of the virus.
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Cervical choriocarcinoma in a post-menopause woman: Case report and review of literature

Published on: 31st January, 2022

OCLC Number/Unique Identifier: 9406534015

Background: Cervical choriocarcinoma is a malignant trophoblastic neoplasm that arises from pluripotent gonadal germ cells. Various manifestations are expected including vaginal bleeding and symptoms related to metastasis. Here, we report a case of primary choriocarcinoma in a post-menopausal woman. Case presentation: A 67-year-old woman presented with vaginal bleeding and lower abdominal pain. Ultrasound and laboratory results were normal except for a β-hCG titer of 14850 IU/L. Hysteroscopy revealed a polyp in the posterior wall of the cervix. hysterectomy and bilateral salpingo-oophorectomy were performed due to suspected choriocarcinoma. The β-hCG titer decreased immediately after surgery. However, the β-hCG titer increased again one month after surgery and treatment was continued with weekly methotrexate administration. Conclusion: Manifestations such as vaginal bleeding is very important in post-menopausal women. Although there are no specific guidelines for the treatment of choriocarcinoma in these patients, hysterectomy following chemotherapy based on response to treatment and β-hCG titration is favorable.
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C3D data based on 2-dimensional images from video camera

Published on: 13th January, 2021

OCLC Number/Unique Identifier: 8899341920

The Human three-dimensional (3D) musculoskeletal model is based on motion analysis methods and can be obtained by particular motion capture systems that export 3D data with coordinate 3D (C3D) format. Unique cameras and specific software are essential for analyzing the data. This equipment is quite expensive, and using them is time-consuming. This research intends to use ordinary video cameras and open source systems to get 3D data and create a C3D format due to these problems. By capturing movements with two video cameras, marker coordination is obtainable using Skill-Spector. To create C3D data from 3D coordinates of the body points, MATLAB functions were used. The subject was captured simultaneously with both the Cortex system and two video cameras during each validation test. The mean correlation coefficient of datasets is 0.7. This method can be used as an alternative method for motion analysis due to a more detailed comparison. The C3D data collection, which we presented in this research, is more accessible and cost-efficient than other systems. In this method, only two cameras have been used.
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Chronic Lyme disease presented with gastroparesis

Published on: 31st October, 2022

We present a case of a 54-year-old White man who was admitted to our clinic for evaluation of gastroparesis. His gastroparesis was severe and unresponsive to previous treatments. Darkfield microscopy revealed the presence of spirochetes and corkscrew-shaped bacteria; although Lyme immunoglobulin M (IgM) and immunoglobulin G (IgG) Western Blot testings were negative. The patient was diagnosed with Chronic Lyme disease and recovered with antibiotherapy. We outline a rare case of dysmotility syndrome; a unique presentation of cChronic Lyme disease and emphasize the limitation of tools necessary in diagnosing Lyme disease
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Forensic science deals with safety armour during warfare explosives

Published on: 28th February, 2022

OCLC Number/Unique Identifier: 9435274079

ems. Preliminary field tests may be used for screening the debris on the explosion site. They include commercially available explosive vapor detectors and chemical color tests. Like post-explosion residues, personal items suspected to contain traces of explosives and hand-swabs, are often heavily contaminated. It is therefore of major importance that the analytical procedures have to include good screening, clean-up, and extraction methods. The main explosives dealt with in this chapter include nitroaromatic explosives, such as 2,4,6-trinitrotoluene (TNT) and 2,4,6, N-tetranitro-N-methyl aniline (tetryl), nitrate esters, such as ethylene glycol dinitrate (EGDN), glycerol trinitrate (nitroglycerin, NG), and pentaerythritol tetranitrate (PETN), and nitramine explosives, such as 1,3,5- trinitro-1,3,5-triazacyclohexane, (RDX) and 1,3,5,7-tetranitro-1,3,5,7-tetrazacyclooctane (HMX), as well as mixtures containing one or more of these explosives. Additional explosives include triacetone triperoxide (TATP) and ammonium nitrate (AN), NH4NO3.
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Factors associated with zinc prescription practice among children with diarrhea who visited public health facilities in Addis Ababa, Ethiopia: A cross sectional study

Published on: 25th March, 2021

OCLC Number/Unique Identifier: 8984625020

Background: Diarrhea and nutrient deficiency worsen each other, and zinc is recommended to be included in clinical management of diarrhea. Therefore, this investigation was done to assess zinc prescription practice to children with diarrhea, identify factors associated with zinc prescription, and assess caregivers’ zinc’s perceived cost and willingness to pay for. Methods: A health institution based cross-sectional study was done. Caretakers of 609 children with diarrhea attending health centers in Addis Ababa were included. Logistic regression was applied to identify variables associated with zinc prescription. Results: Zinc was prescribed to 62.1% of children. About 74.9% of the caregivers were willing to pay for zinc. Previous use of zinc (AOR = 2.3; 95% CI: 1.34-4.01), exposure to zinc related message (AOR = 2.6, 95% CI: 1.53-4.60) and willingness to pay for zinc (AOR = 6.9; 95% CI: 3.84-12.66) were associated with zinc prescription. Conclusion: Zinc was not administered to considerable proportion of children with diarrhea. Previous use of zinc, exposure to zinc related message and willingness to pay for positively contributed to zinc prescription. Health care workers shall be encouraged on zinc prescription. Intervention to increase willingness to pay for zinc and zinc benefit communication shall be strengthened in parallel with operational researches.
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Bone marrow histology in CALR mutated thrombocythemia and myelofibrosis: Results from two cross sectional studies in 70 newly diagnosed JAK2/MPL wild type thrombocythemia patients

Published on: 21st June, 2019

OCLC Number/Unique Identifier: 8180078896

The clinical phenotypes in 268 JAK2V617F mutated MPN patients in the Seoul study were PV in 101, ET in 95 and MF in 78 and 56 CALR mutated MPN consisted of PV in none, ET in 40 and MF in 16 cases. CALR mutated MPN patients were younger than JAK2V617F mutated MPN patients (mean ages 57.5 and 66 years), had lower values for values for leukocytes (8.6 vs 11.9x109/L) and higher values for platelets (898 vs 643x109/L respectively). Bone marrow histopathology in 268 JAK2V617F mutated MPN patients in the Seoul study was featured by an increased erythropoiesis and megakaryopoiesis (EM) in 13.5%, an increased erythropoiesis, megakaryopoiesis and granulopoiesis (EMG) in 31.3%, a normocellular megakaryocytic (M) proliferation in 29,1%, a megakaryocytic and granulocytic (MG) proliferation with a relative reduction of erythropoiesis in post-ET and Post-PV myelofibrosis in 26.2%. The bone marrow histology in 56 cases of CALR mutated MPN show a predominantly increased megakaryopoiesis (M) in two thirds and an increased megakaryopoiesis and granulopoiesis (MG) with a decreased erythropoiesis in one third. Thirteen consecutive CALR MPN patients in the Belgian & Dutch cross sectional study presented with thrombocythemia associated with a typical PMGM bone marrow histology in 11 and myelofibrosis in 2 cases. All 11 thrombocythemia and 2 myelofibrosis CALR mutated MPN patients did not have constitutional symptoms and did not suffer from microvascular erythromelalgic disturbances, major thrombosis at platelet counts between 400 and 1000x109/L. There was an occurrence of hemorrhages at platelet counts above 1000x109/L in two CALR thrombocythemia cases. Bone marrow histology of CALR mutated thrombocythemia in the Seoul and Belgian/Dutch study showed loose clusters of large megakaryocytes (M) with bulky, cloud-like nuclei with a normal or a minor reduction of erythropoiesis and no increase in reticulin fibers grade 0 or 1 (RF 0 or 1). CALR thrombocythemia patients show various degrees of increased bone marrow cellularity due to dual megakaryocytic and granulocytic (MG) proliferation featured by large megakaryocytes with roundish bulky nuclear forms and cloud-like clumsy nuclei, which are almost never seen in JAK2V617F ET and PV. Assessment of allele burden is an independent and most important factor for all molecular variants MPN disease burden. Overt myelofibrosis with advanced post PV and or ET myelofibrosis at the bone marrow level occurred in one third (30%) of 208 evaluable JAK2 MPN patients and in 8 (14%) of 56 CALR MPN patients in the Seoul study.
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Drug abuse and its ramifications on skeletal system

Published on: 5th November, 2019

OCLC Number/Unique Identifier: 8330461480

The purpose of this study is to highlight the drug abuse hazards and preventive aspects. From a public health perspective, substance abuse has long been a source of major concern, both for the individual’s health and for wider society as a whole. The UK has the highest rates of recorded illegal drug misuse in the western world. In particular, it has comparatively high rates of heroin and crack cocaine use. Substances that are considered harmful are strictly regulated according to a classification system that takes into account the harms and risks of taking each drug. The adverse effects of drug abuse can be thought of in three parts that together determine the overall harm in taking it. Some addictive substances are more damaging to the skeletal system along with the others. In this review article, an effort has been taken to elaborate the effects of addictive drugs on human highlighting these most problematic substances for bones and also the promising potential prevention aspects of drug abuse.
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