968,920 results match your criteria years etiology

Fifty years of recognizable patterns of human malformation: Insights and opportunities.

Am J Med Genet A 2021 May 5. Epub 2021 May 5.

Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Now in its 7th edition, Smith's Recognizable Patterns of Human Malformation was first published in 1970. This 1st edition comprised 135 "dysmorphic syndromes of multiple primary defects" and 12 "single syndromic malformations resulting in secondary defects." Of the former, other than a few chromosomal and environmental disorders, most were heritable conditions of then unknown etiology. Read More

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Silicone Adenopathy and Intractable Axilary Pain after Breast Implant Augmentation - Case Report.

Chirurgia (Bucur) 2021 Mar-Apr;116(2):248-253

Silicone lymphadenophaty (siliconoma) is a rare complication secondary to breast implant augmentation or breast reconstruction surgery. Although it is usually linked to the age of the implant, the predominant etiology is multifactorial. Herein, we report a case of extensive siliconoma in the axilla in the hope that our experience will contribute to clinical decision making. Read More

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Adolescent and Childhood Obesity and Excess Morbidity and Mortality in Young Adulthood-a Systematic Review.

Curr Obes Rep 2021 May 5. Epub 2021 May 5.

The Israel Defense Forces Medical Corps, Ramat Gan, Israel.

Purpose Of Review: Rates of childhood obesity have been soaring in recent decades. The association between obesity in adulthood and excess morbidity and mortality has been readily established, whereas the association of childhood and adolescent obesity has not. The purpose of this review is to summarize existing data regarding the association of the presence of obesity in childhood/adolescence and early-onset adverse outcomes in adulthood, with specific focus on young adults under the age of 45 years. Read More

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Effects of Growth Hormone treatment on sleep-related parameters in adults with Prader-Willi syndrome.

J Clin Endocrinol Metab 2021 May 5. Epub 2021 May 5.

Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

Background: Prader-Willi Syndrome (PWS) is a rare, genetic, multi-symptom, neurodevelopmental disease, due to lack of the expression of the paternal genes in the q11-q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities and endocrine deficiencies, including growth hormone (GH) deficiency. Sleep apnea and abnormal sleep patterns are common in PWS. Read More

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Evaluation of ISS, RTS, CASS and TRISS scoring systems for predicting outcomes of blunt trauma abdomen.

Pol Przegl Chir 2021 Feb;93(2):9-15

Department of Surgery, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India.

Purpose: Trauma is the leading cause of mortality in people below the age of 45 years. Abdominal trauma constitutes one-fourth of the trauma burden. Scoring systems in trauma are necessary for grading the severity of the injury and prior mobilization of resources in anticipation. Read More

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February 2021

Quality of life and depression in COPD patients in the Colombian Caribbean.

Clin Respir J 2021 May 5. Epub 2021 May 5.

Facultad de Ciencias de la Salud, Universidad del Magdalena, Santa Marta, Colombia.

Objective: To establish the association between quality of life and depression among COPD patients of the Colombian Caribbean.

Method: A cross-sectional study was carried out with the participation of adult COPD patients. COPD-related quality of life was quantified with the COPD Assessment Test (CAT) and depression using the Zung 10-item Self-rating Depression Scale (SDS-10). Read More

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Incidence and demographic characteristics of Syrian Civil War-related amputations: A multi-center study.

Turk J Phys Med Rehabil 2021 Mar 4;67(1):48-55. Epub 2021 Mar 4.

Istanbul Leprosy, Skin and Venereal Diseases Hospital, Istanbul, Turkey.

Objectives: The aim of this study was to identify the causes, levels, and rates of amputations performed in civilians during the Syrian Civil War and to present epidemiological data of the amputees.

Patients And Methods: Between August 2017 and February 2019, a total of 363 amputations of 307 amputees (266 males, 41 females; mean age 29.9±13. Read More

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Genetically determined elevated C-reactive protein associated with primary colorectal cancer risk: Mendelian randomization with lifestyle interactions.

Am J Cancer Res 2021 15;11(4):1733-1753. Epub 2021 Apr 15.

Department of Epidemiology, Fielding School of Public Health, University of California Los Angeles, CA 90095, USA.

Systemic inflammation-related etiologic pathways via inflammatory cytokines in the development of colorectal cancer (CRC) have not been convincingly determined and may be confounded by lifestyle factors or reverse causality. We investigated the genetically predicted C-reactive protein (CRP) phenotype in the potential causal pathway of primary CRC risk in postmenopausal women in a Mendelian randomization (MR) framework. We employed individual-level data of the Women's Health Initiative Database for Genotypes and Phenotypes Study, which consists of 5 genome-wide association (GWA) studies, including 10,142 women, 737 of whom developed primary CRC. Read More

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Association between environmental quality and prostate cancer stage at diagnosis.

Prostate Cancer Prostatic Dis 2021 May 4. Epub 2021 May 4.

Department of Urology, University of Illinois at Chicago, Chicago, IL, USA.

Background: Prostate cancer (PC) etiology is up to 57% heritable, with the remainder attributed to environmental exposures. There are limited studies regarding national level environmental exposures and PC aggressiveness, which was the focus of this study METHODS: SEER was queried to identify PC cases between 2010 and 2014. The environmental quality index (EQI) is a county-level metric for 2000-2005 combining data from 18 sources and reports an overall ambient environmental quality index, as well as 5 environmental quality sub-domains (air, water, land, built, and sociodemographic) with higher values representing lower environmental quality. Read More

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Evaluation of clinical performance and survival rate of Straumann dental implants in Saudi Population based on cross-sectional study.

Sci Rep 2021 May 4;11(1):9526. Epub 2021 May 4.

Department of Restorative Dentistry, State University of New York at Buffalo School of Dental Medicine, Buffalo, New York, USA.

Risk indicators of peri-implantitis is still contradictory and somehow unclear in present literature therefore efforts should be done for better understanding of the exact etiology of peri-implant disease progression. The present study aimed to assess risk indicators associated with peri-implantitis by observing the changes in several periodontal parameters after implant placement. This cross-sectional study included 213 female and 271 male patients aged 26-87 years, who received 484 titanium implants (Straumann, Switzerland) at King Saud University's Dental College, Saudi Arabia. Read More

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Personality traits predict regression of pelvic girdle pain after pregnancy: a longitudinal follow-up study.

BMC Pregnancy Childbirth 2021 May 4;21(1):353. Epub 2021 May 4.

Department of Orthopaedic, China-Japan Friendship Hospital, Peking Union Medical College, Chinese Academy of Medical College, Beijing, 100853, China.

Background: Pelvic girdle pain (PGP) is a multifactorial condition with a partly unknown etiology. This condition can be mentally and physically compromising both during and after pregnancy. To provide all-around preventive measures to improve the recovery from PGP, it is a necessity for obstetricians and orthopaedists to develop predictive studies about the worse prognosis for this condition. Read More

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The facial nerve palsy and cortisone evaluation (FACE) study in children: protocol for a randomized, placebo-controlled, multicenter trial, in a Borrelia burgdorferi endemic area.

BMC Pediatr 2021 May 4;21(1):220. Epub 2021 May 4.

Center for Clinical Research Dalarna - Uppsala University, Region Dalarna County, Falun, Sweden.

Background: Children with acute peripheral facial nerve palsy cannot yet be recommended corticosteroid treatment based on evidence. Adults with idiopathic facial nerve palsy are treated with corticosteroids, according to guidelines resulting from a meta-analysis comprising two major randomized placebo-controlled trials. Corresponding trials in children are lacking. Read More

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Osteoarthritis: Novel Molecular Mechanisms Increase Our Understanding of the Disease Pathology.

J Clin Med 2021 Apr 30;10(9). Epub 2021 Apr 30.

Center of Experimental Orthopaedics, Saarland University, 66421 Homburg, Germany.

Although osteoarthritis (OA) is the most common musculoskeletal condition that causes significant health and social problems worldwide, its exact etiology is still unclear. With an aging and increasingly obese population, OA is becoming even more prevalent than in previous decades. Up to 35% of the world's population over 60 years of age suffers from symptomatic (painful, disabling) OA. Read More

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Mitral Surgery after Transcatheter Edge-to-Edge Repair: Society of Thoracic Surgeons Database Analysis.

J Am Coll Cardiol 2021 Apr 27. Epub 2021 Apr 27.

Department of Cardiovascular Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Background: Transcatheter edge-to-edge (TEER) mitral repair may be complicated by residual or recurrent mitral regurgitation. Increasing need for surgical reintervention has been reported but operative outcomes are ill-defined.

Objectives: This study evaluated national outcomes of mitral surgery after TEER. Read More

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Acute urticaria in children: from pediatric emergency department to allergology consultation at a central hospital.

Eur Ann Allergy Clin Immunol 2021 May 4. Epub 2021 May 4.

Medical doctor, Allergy Department, Centro Hospitalar Vila Nova de Gaia/Espinho, EPE, Vila Nova de Gaia, Portugal.

Summary: Acute urticaria is a common condition in the pediatric emergency department (ED) and no data is available in Portugal. We aimed to characterize the prevalence, etiology and management of acute urticaria in children presenting at an ED of a portuguese central hospital and report the follow-up investigation when drug or food allergy was suspected. Retrospective study of clinical records from children admitted to the ED with acute urticaria during one year period. Read More

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Outcomes of Cochlear Implantation in Post-lingually Deaf Patients.

Int Tinnitus J 2021 Mar 1;25(1):18-22. Epub 2021 Mar 1.

Department of Otolaryngology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: Cochlear implantation has been mentioned as the most effective therapeutic intervention in deaf patients and especially those with post-lingual deafness. We aimed to assess hearing improvement of post-lingually deaf patients after cochlear implantation.

Materials And Methods: in this cross-sectional study all the post-lingually deaf patients who had undergone cochlear implantation (CI) surgery between December 2010 and February 2016 were assessed. Read More

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Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.

Am J Med Genet A 2021 May 4. Epub 2021 May 4.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Overgrowth, defined as height and/or OFC ≥ +2SD, characterizes a subset of patients with syndromic intellectual disability (ID). Many of the disorders with overgrowth and ID (OGID) are rare and the full phenotypic and genotypic spectra have not been unraveled. This study was undertaken to characterize the phenotypic and genotypic profile of patients with OGID. Read More

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Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

J Clin Lab Anal 2021 May 4:e23781. Epub 2021 May 4.

Department of Laboratory Medicine, the First Affiliated Hospital of Shantou University Medical College, Shantou, P.R. China.

Background: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe transfusion-dependent anemia. Most patients are asymptomatic or have mild anemia, which hinders diagnosis. Read More

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[Bladder paraganglioma: Report of two cases and a literature review.]

Arch Esp Urol 2021 May;74(4):445-449

Servicio de Oncología Médica. Hospital General Universitario de Elche. España. Unidad de Consejo Genético. Hospital General Universitario de Elche. España.

Objective: Description of two incidental cases of bladder paraganglioma in women and review of the published literature.

Methods: A bibliographic search was carried out in Medline over the last 10 years according to the terms "urinary bladder" and "paraganglioma".

Results: Bladder paraganglioma (BP) accounts for less than 0. Read More

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[Partial thrombosis of the corpus cavernosum: A new case with good outcomes under non-steroidal anti-inflammatory drugs].

Prog Urol 2021 Apr 30. Epub 2021 Apr 30.

Service d'urologie, Centre hospitalier intercommunal André-Grégoire, Montreuil, France; Fédération interhospitalière d'urologie de Seine Saint-Denis, Paris, France.

Partial priapism is a rare pathology with less than 60 cases published in the literature; the etiology remains unknown, although certain favorable factors are identified as having in relation a prolonged perineal compression or a thrombopathy. The symptomatology is characterized by the appearance of pain, perineal edema and an induration of the root of the penis, which do not concern the distal part of the penis or the glans. MRI is the best complementary examination. Read More

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Sphingolipid lysosomal storage diseases: from bench to bedside.

Lipids Health Dis 2021 May 3;20(1):44. Epub 2021 May 3.

Department of Biology and Biochemistry, Birzeit University, P.O. Box 14, Ramallah, West Bank, 627, Palestine.

Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability. Currently, sphingolipids and their metabolism are hotly debated topics in various biochemical fields. Similar to other macromolecular reactions, SL metabolism has important implications in health and disease in most cells. Read More

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Thick Fibrous Septa on Liver Biopsy Specimens Predict the Development of Decompensation in Patients With Compensated Cirrhosis.

Am J Clin Pathol 2021 May 3. Epub 2021 May 3.

Section of Digestive Diseases, Yale University School of Medicine, New Haven, CT, USA.

Objectives: In compensated cirrhosis, thick fibrous septa and small nodules on liver biopsy specimens correlate with the presence of clinically significant portal hypertension (CSPH). In turn, CSPH is the strongest predictor of cirrhosis decompensation. The aim of the study was to correlate liver biopsy specimen characteristics with the development of decompensation in patients with compensated cirrhosis. Read More

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Characteristics of type 1 diabetes mellitus in children and adolescents with Down's syndrome in an admixed population.

Arch Endocrinol Metab 2021 Apr 29. Epub 2021 Apr 29.

Serviço de Endocrinologia Pediátrica, Departamento de Pediatria, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brasil,

Objective: People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population.

Methods: A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil. Read More

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Etiology, Clinical Course, and Outcomes of Pneumonia in the Elderly: A Retrospective and Prospective Cohort Study in Thailand.

Am J Trop Med Hyg 2021 May 3. Epub 2021 May 3.

1Faculty of Tropical Medicine, Mahidol University, Ratchathewi, Bangkok, Thailand.

Pneumonia is a leading cause of hospitalization and death among elderly adults. We performed a retrospective and prospective observational study to describe the etiology, clinical course, and outcomes of pneumonia for patients 60 years and older in Thailand. We enrolled 490 patients; 440 patients were included in the retrospective study and 50 patients were included in the prospective study. Read More

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Safety and efficacy outcomes at 1 year after MitraClip therapy for percutaneous mitral valve repair in patients with severe mitral regurgitation: the Egyptian experience.

Egypt Heart J 2021 May 3;73(1):42. Epub 2021 May 3.

Department of Cardiology, Faculty of Medicine, Zagazig University, Zagazig, 44519, Egypt.

Background: Our aim was to assess safety and efficacy outcomes at 1 year after MitraClip for percutaneous mitral valve repair in patients with severe mitral regurgitation. Twenty consecutive patients with significant MR (GIII or GIV) were selected according to the AHA/ACC guidelines from June 2016 to June 2019 and underwent percutaneous edge-to-edge mitral valve repair using MitraClip with a whole 1 year follow-up following the procedure. The primary acute safety endpoint was a 30-day freedom from any of the major adverse events (MAEs) or rehospitalization for heart failure. Read More

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Capability of stroke scales to detect large vessel occlusion in acute ischemic stroke - a pilot study.

Ideggyogy Sz 2021 Mar;74(3-4):99-103

Department of Neurology, University of Pécs, Pécs.

Background And Purpose: Rapid changes of stroke management in recent years facilitate the need for accurate and easy-to-use screening methods for early detection of large vessel occlusion (LVO) in acute ischemic stroke (AIS). Our aim was to evaluate the ability of various stroke scales to discriminate an LVO in AIS.

Methods: We have performed a cross-sectional, observational study based on a registry of consecutive patients with first ever AIS admitted up to 4. Read More

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[The importance of patient reported outcome measures in Pompe disease].

Ideggyogy Sz 2021 Mar;74(3-4):105-115

Semmelweis Egyetem, Genomikai Medicina és Ritka Betegségek Intézete, Budapest.

Background And Purpose: In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Read More

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The effect of parity on obstetric and perinatal outcomes in pregnancies at the age of 40 and above: a retrospective study.

Croat Med J 2021 Apr;62(2):130-136

Simten Genc, Obstetrics and Gynecology Department, Okmeydani Training and Research Hospital, Istanbul 34384, Turkey,

Aim: To examine the characteristics of pregnancies at a very advanced maternal age and the effect of parity on adverse obstetric outcomes.

Methods: We retrospectively reviewed the records of women who gave birth at the Obstetrics and Gynecology Department of Okmeydanı Training and Research Hospital between January 2012 and December 2019. Overall, 22 448 of women were younger than 40 and 593 were aged 40 and older. Read More

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An Update on Cardiovascular Risk Factors After Kawasaki Disease.

Front Cardiovasc Med 2021 16;8:671198. Epub 2021 Apr 16.

Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing, China.

First described in Japan 50 years ago, Kawasaki disease is a worldwide multisystem disease. It is an acute self-limited vasculitis of unknown etiology that can lead to coronary artery lesions, such as dilatation, aneurysms, and stenosis in children. It is one of the common causes of acquired heart disease among children in developed countries. Read More

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Long-standing hypercalcemia in a 78-years old woman.

Clin Case Rep 2021 Apr 24;9(4):2492-2493. Epub 2021 Feb 24.

Department of Surgery "Hygeia Hospital" Athens Greece.

A 78 years-old woman was found with worsening hypercalcemia, osteopenia and memory loss during the past 2 years. Multiple, repeated imaging studies failed to reveal the etiology of the primary hyperparathyroidism. Bilateral neck exploration revealed a 4. Read More

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