49,913 results match your criteria major deformities


Perinatal SSRI exposure disrupts G protein-coupled receptor BAI3 in developing dentate gyrus and adult emotional behavior: relevance to psychiatric disorders.

Neuroscience 2021 Jul 19. Epub 2021 Jul 19.

School of Neuroscience, Virginia Polytechnic Institute and State University, Blacksburg, VA, 24061, USA. Electronic address:

Selective serotonin reuptake inhibitor (SSRI) antidepressants are widely prescribed to pregnant women suffering with depression, although the long-term impact of these medications on exposed offspring are poorly understood. Perinatal SSRI exposure alters human offspring's neurodevelopment and increases risk for psychiatric illness in later life. Rodent studies suggest that perinatal SSRI-induced behavioral abnormalities are driven by changes in the serotonin system as well as epigenetic and transcriptomic changes in the developing hippocampus. Read More

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Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.

Glia 2021 Jul 21. Epub 2021 Jul 21.

Centre for Discovery Brain Sciences and MS Society Edinburgh Centre for MS Research, University of Edinburgh, Edinburgh, United Kingdom.

Disruption of axon-glia interactions in the peripheral nervous system has emerged as a major cause of arthrogryposis multiplex congenita (AMC), a condition characterized by multiple congenital postural abnormalities involving the major joints. Several genes crucially important to the biology of Schwann cells have now been implicated with AMC. One such gene is LGI4 which encodes a secreted glycoprotein. Read More

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The aetiology and molecular landscape of insulin resistance.

Nat Rev Mol Cell Biol 2021 Jul 20. Epub 2021 Jul 20.

Internal Medicine Research Unit, Pfizer Inc., Cambridge, MA, USA.

Insulin resistance, defined as a defect in insulin-mediated control of glucose metabolism in tissues - prominently in muscle, fat and liver - is one of the earliest manifestations of a constellation of human diseases that includes type 2 diabetes and cardiovascular disease. These diseases are typically associated with intertwined metabolic abnormalities, including obesity, hyperinsulinaemia, hyperglycaemia and hyperlipidaemia. Insulin resistance is caused by a combination of genetic and environmental factors. Read More

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Pediatric PTSD is characterized by age- and sex-related abnormalities in structural connectivity.

Neuropsychopharmacology 2021 Jul 20. Epub 2021 Jul 20.

Department of Psychiatry, University of Wisconsin School of Medicine & Public Health, Madison, USA.

Pediatric post-traumatic stress disorder (pPTSD) is a prevalent and pervasive form of mental illness comprising a disparate constellation of psychiatric symptoms. Emerging evidence suggests that pPTSD may be characterized by alterations in functional networks traversing the brain. Yet, little is known about pathological changes in the structural tracts underlying functional connectivity. Read More

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Intact procedural learning and motor intracortical inhibition in adult neurofibromatosis type 1 gene carriers.

Clin Neurophysiol 2021 Jun 21;132(9):2037-2045. Epub 2021 Jun 21.

Experimental Electrophysiology and Neuroimaging (xENi) Laboratory, Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

Objective: Neurofibromatosis type 1 (NF1) is known to cause learning deficits in affected individuals. There has been evidence linking altered gamma-aminobutyric acid (GABA) mediated inhibition to learning impairments in rodent models and humans with NF1. Still, evidence on the role of GABA in learning deficits associated with NF1 is inconclusive. Read More

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Effect of insulin treatment on pulsatility ratio and resistance index of the retinal artery in patients with type 2 diabetes.

PLoS One 2021 20;16(7):e0254980. Epub 2021 Jul 20.

Department of Ophthalmology, Asahikawa Medical University, Asahikawa, Japan.

This study aimed to evaluate whether long-term insulin treatment is associated with abnormalities in retinal circulation in type 2 diabetic patients. We evaluated 19 eyes of nondiabetic individuals and 68 eyes of type 2 diabetic patients. The eyes of diabetic patients were classified into two groups according to the presence or absence of long-term insulin therapy. Read More

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Thyroid autoimmunity and hypothyroidism are associated with deep molecular response in patients with chronic myeloid leukemia on tyrosine kinase inhibitors.

J Endocrinol Invest 2021 Jul 20. Epub 2021 Jul 20.

Endocrinology Unit, Department of Medical Sciences and Public Health, University of Cagliari, Azienda Ospedaliero-Universitaria di Cagliari, SS 554, Bivio per Sestu, Monserrato, 09042, Cagliari, Italy.

Purpose: Thyroid alterations including de novo appearance of thyroid autoimmunity are adverse effects of tyrosine kinase inhibitors, used in solid and hematologic cancer therapy, but the relationship between thyroid alterations during this treatment and the outcome of chronic myeloid leukemia remains unclear. Aim of this study was to investigate whether the presence of thyroid alterations may affect the clinical outcome of chronic myeloid leukemia on tyrosine kinase inhibitors.

Methods: We evaluated thyroid function and autoimmunity in 69 chronic myeloid leukemia patients on long-term therapy looking at the association between thyroid abnormalities and disease molecular response. Read More

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Ceramides in Skin Health and Disease: An Update.

Am J Clin Dermatol 2021 Jul 20. Epub 2021 Jul 20.

Department of Food Science and Nutrition, Convergence Program of Material Science for Medicine and Pharmaceutics, Hallym University, Chuncheon, 24252, Korea.

Ceramides are a class of sphingolipid that is the backbone structure for all sphingolipids, such as glycosphingolipids and phosphosphingolipids. While being a minor constituent of cellular membranes, ceramides are the major lipid component (along with cholesterol, free fatty acid, and other minor components) of the intercellular spaces of stratum corneum that forms the epidermal permeability barrier. These stratum corneum ceramides consist of unique heterogenous molecular species that have only been identified in terrestrial mammals. Read More

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Antiviral bioactivity of resveratrol against Zika virus infection in human retinal pigment epithelial cells.

Mol Biol Rep 2021 Jul 20. Epub 2021 Jul 20.

Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (UBA), Ciudad Universitaria, Buenos Aires, Argentina.

Resveratrol (RES) is a polyphenol with increasing interest for its inhibitory effects on a wide variety of viruses. Zika virus (ZIKV) is an arbovirus which causes a broad spectrum of ophthalmological manifestations in humans. Currently there is no certified therapy or vaccine to treat it, thus it has become a major global health threat. Read More

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A Brief Review on the Role of Vesicular Monoamine Transporter Inhibitors in Hyperkinetic Movement Disorders.

Authors:
Ali Nikkhah

Iran J Child Neurol 2021 ;15(3):29-33

Department of Pediatric Neurology, Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Hyperkinetic movement disorders are a common group of movement abnormalities in children, characterized with repetitive unintended involuntary movements. Major hyperkinetic movements include tremor, tic, dystonia, myoclonus, and chorea. Although a number of drugs have been proven to be beneficial for these abnormalities, some patients may become resistant to conventional treatments. Read More

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January 2021

Efficacy of treatment with corticosteroids for fibrotic hypersensitivity pneumonitis: a propensity score-matched cohort analysis.

BMC Pulm Med 2021 Jul 19;21(1):243. Epub 2021 Jul 19.

Department of Respiratory Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

Background: Fibrotic hypersensitivity pneumonitis (HP) is a chronic interstitial lung disease caused by allergic responses to repeated exposures to a causative antigen. Therapeutic evidence of the use of corticosteroids to treat fibrotic HP remains lacking, although corticosteroids are recognized as a major treatment option. The purpose of this study was to evaluate the efficacy of corticosteroid treatment in patients with fibrotic HP in a propensity score-matched cohort. Read More

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EVOO Polyphenols Relieve Synergistically Autophagy Dysregulation in a Cellular Model of Alzheimer's Disease.

Int J Mol Sci 2021 Jul 5;22(13). Epub 2021 Jul 5.

Department of Biomedical, Experimental and Clinical Sciences, University of Firenze, 50134 Firenze, Italy.

(1) Background: Autophagy, the major cytoplasmic process of substrate turnover, declines with age, contributing to proteostasis decline, accumulation of harmful protein aggregates, damaged mitochondria and to ROS production. Accordingly, abnormalities in the autophagic flux may contribute to many different pathophysiological conditions associated with ageing, including neurodegeneration. Recent data have shown that extra-virgin olive oil (EVOO) polyphenols stimulate cell defenses against plaque-induced neurodegeneration, mainly, through autophagy induction. Read More

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Role of Gut Microbiota in the Pathophysiology of Stress-Related Disorders: Evidence from Neuroimaging Studies.

Ann Nutr Metab 2021 Jul 19:1-7. Epub 2021 Jul 19.

Department of Psychosomatic Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Background: The brain and gut communicate bidirectionally via immune, neurological, and endocrine pathways, which is termed the "brain-gut interaction." Recent studies of gut microbiota as a mediator of this interaction have provided a growing body of scientific evidence that suggests that the gut microbiota influences stress and emotional responses and stress-related disorders.

Summary: Major advances in analytical methods have led to an increased number of studies that combine gut microbiota and neuroimaging, mainly magnetic resonance imaging, to elucidate the mechanisms. Read More

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Fractionated low-dose radiation induces long-lasting inflammatory responses in the hippocampal stem cell niche.

Int J Radiat Oncol Biol Phys 2021 Jul 16. Epub 2021 Jul 16.

Department of Radiation Oncology, Saarland University Medical Center, Homburg/Saar, Germany. Electronic address:

Purpose: Despite major technical advances in hippocampus-sparing radiotherapy, radiation-induced injury to the neural stem cell compartment may affect neurocognitive functions. In the brain glia cells modulate neuronal functions and are major mediators of neuroinflammation. In a pre-clinical mouse model with fractionated low-dose radiation (LDR) the complex response to radiation-induced injury was analyzed in the hippocampal stem cell compartment over a period of 6 months. Read More

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Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India.

Mol Neurobiol 2021 Jul 19. Epub 2021 Jul 19.

Human Molecular Cytogenetics and Stem Cell Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, 641-046, Tamil Nadu, India.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterised by impaired social interaction and behavioural abnormalities. Growing evidence proved that impairment in mitochondrial functions could inhibit energy production and may contribute to the onset of ASD. Genetic variants in the genes of mitochondrial DNA (mtDNA) could interrupt the normal energy metabolism and production in the brain which lead to a wide range of structural and functional changes in the brain resulting in ASD. Read More

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The Diabetic Cardiomyopathy: The Contributing Pathophysiological Mechanisms.

Front Med (Lausanne) 2021 30;8:695792. Epub 2021 Jun 30.

Department of Advanced Medical and Surgical Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.

Individuals with diabetes mellitus (DM) disclose a higher incidence and a poorer prognosis of heart failure (HF) than non-diabetic people, even in the absence of other HF risk factors. The adverse impact of diabetes on HF likely reflects an underlying "diabetic cardiomyopathy" (DM-CMP), which may by exacerbated by left ventricular hypertrophy and coronary artery disease (CAD). The pathogenesis of DM-CMP has been a hot topic of research since its first description and is still under active investigation, as a complex interplay among multiple mechanisms may play a role at systemic, myocardial, and cellular/molecular levels. Read More

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The Prothrombotic State Associated with SARS-CoV-2 Infection: Pathophysiological Aspects.

Mediterr J Hematol Infect Dis 2021 1;13(1):e2021045. Epub 2021 Jul 1.

Dipartimento di Scienze Biomediche e Oncologia Umana, Università degli Studi di Bari Aldo Moro, Bari, Italy.

Severe coronavirus disease-2019 (COVID-19) is frequently associated with microvascular thrombosis, especially in the lung, or macrovascular thrombosis, mainly venous thromboembolism, which significantly contributes to the disease mortality burden. COVID-19 patients also exhibit distinctive laboratory abnormalities that are compatible with a prothrombotic state. The key event underlying COVID-19-associated thrombotic complications is an excessive host inflammatory response to severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection generating multiple inflammatory mediators, mainly cytokines and complement activation products. Read More

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PATIENT-REPORTED OUTCOMES FOR USE OF SILVERSPLINTS IN OSTEOARTHRITIS OF THE HAND.

J Rehabil Med Clin Commun 2021 21;4:1000060. Epub 2021 May 21.

Livit Orthopedie, Kabelweg 40, 1014 BB, Amsterdam, The Netherlands.

Pain, stiffness and joint deformity can result in significantly reduced hand function in people with osteoarthritis. Characteristic finger deformities in osteoarthritis are swan neck deformity and boutonnière deformity. Several studies have reported that an orthosis decreases pain and increases function during daily activities for patients with arthritis. Read More

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Alternative chemoradiotherapy in anal carcinoma patients with mutations in thymidylate synthase and dihydropyrimidine dehydrogenase genes.

Therap Adv Gastroenterol 2021 3;14:17562848211024464. Epub 2021 Jul 3.

Tufts Medical Center, Boston, MA, USA.

Background: 5-fluorouracil (5-FU) and mitomycin-C (MMC) with radiotherapy (RT) remain an established treatment for patients with anal cancer (AC). Genetic mutations in two major metabolizing enzymes for 5-FU; dihydropyrimidine dehydrogenase ( and thymidylate synthetase (), have been associated with clinical response and toxicity. However, their place in the treatment of AC remains undetermined. Read More

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Reduced Brain Gray Matter Volume in Patients With First-Episode Major Depressive Disorder: A Quantitative Meta-Analysis.

Front Psychiatry 2021 1;12:671348. Epub 2021 Jul 1.

Department of Magnetic Resonance Imaging, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

The findings of many neuroimaging studies in patients with first-episode major depressive disorder (MDD), and even those of previous meta-analysis, are divergent. To quantitatively integrate these studies, we performed a meta-analysis of gray matter volumes using voxel-based morphometry (VBM). We performed a comprehensive literature search for relevant studies and traced the references up to May 1, 2021 to select the VBM studies between first-episode MDD and healthy controls (HC). Read More

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Prevalence of and Factors Associated with Sleep-Wake Abnormalities in Patients with Cirrhosis.

J Clin Exp Hepatol 2021 Jul-Aug;11(4):453-465. Epub 2020 Oct 24.

Department of Hepatology and Liver Transplantation, New Delhi, India.

Background & Aims: Sleep-wake abnormalities [poor nighttime sleep and excessive daytime sleepiness (EDS)] are common in patients with cirrhosis. The aim of this study was to assess the prevalence of sleep-wake abnormalities and clinical factors associated with these abnormalities in a group of patients with cirrhosis.

Methods: 1098 patients with cirrhosis [Child Turcotte Pugh (CTP) class A, 22. Read More

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October 2020

The significance of rare chromosomal abnormalities and fetoplacental mosaicism in prenatal diagnosis in the non-invasive prenatal testing era

Orv Hetil 2021 07 18;162(29):1156-1165. Epub 2021 Jul 18.

4 Semmelweis Egyetem, Általános Orvostudományi Kar, Szülészeti és Nőgyógyászati Klinika, Budapest.

Összefoglaló. Bevezetés és célkitűzés: A gyakori autoszomális trisomiák és a nemi kromoszómaeltérések a mikroszkóppal észlelhető kromoszóma-rendellenességek kb. 80-85%-át képviselik. Read More

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Biodegradable polymers and their nano-composites for the removal of endocrine-disrupting chemicals (EDCs) from wastewater: A review.

Environ Res 2021 Jul 15;202:111694. Epub 2021 Jul 15.

Deparment of Chemical Engineering, Quchan University of Technology, Quchan, Iran. Electronic address:

Endocrine-disrupting chemicals (EDCs) target the endocrine system by interfering with the natural hormones in the body leading to adverse effects on human and animal health. These chemicals have been identified as major polluting agents in wastewater effluents. Pharmaceuticals, personal care products, industrial compounds, pesticides, dyes, and heavy metals are examples of substances that could be considered endocrine active chemicals. Read More

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Limb salvage versus below knee amputation for severe adult lower limb deformity - A retrospective, comparative series.

Foot Ankle Surg 2021 Jul 6. Epub 2021 Jul 6.

Foot and Ankle Unit, Royal National Orthopaedic Hospital, Stanmore, UK.

Background: This study compares outcomes of patients with severe, multiplanar, fixed, pantalar deformities undergoing limb preservation with either pantalar fusion (PTF) or talectomy and tibiocalcaneal fusion (TCF), versus below knee amputation (BKA).

Methods: Fifty-one patients undergoing either PTF, TCF and BKA for failed management of severe pantalar deformity were evaluated retrospectively. Twenty-seven patients underwent PTF, 8 TCF and 16 BKA. Read More

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Evaluation of the Seattle and International Criteria in elite Nigerian athletes.

J Electrocardiol 2021 Jul 7;68:14-23. Epub 2021 Jul 7.

Division of Cardiology, Department of Internal Medicine, University of Port Harcourt Teaching Hospital, East-West Road, Opposite Alakahia Junction, Rivers State, PMB, 6173, Nigeria.

Background: The Seattle Criteria (SC) and International Criteria (IC) were both developed for cardiovascular pre-participation screening in young athletes. Neither set of Criteria has been systematically evaluated in high level indigenous black African athletes.

Objectives: (1) To determine the pattern of ECG findings in athletes of the University of Port Harcourt, Nigeria; (2) To determine the predictors of altered repolarization in these athletes; and (3) To evaluate the diagnostic performance of the SC and IC in these athletes. Read More

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Role of Intravenous Magnesium Sulphate in Term Neonates with Hypoxic Ischemic Encephalopathy (HIE) in a Low-income Country: A Randomised Clinical Trial.

J Coll Physicians Surg Pak 2021 Jul;30(7):817-820

Department of Paediatric Medicine Unit-II, Services Hospital, Lahore, Pakistan.

Objective: To determine the effects of magnesium sulphate in term neonates with hypoxic ischemic encephalopathy (HIE) in reducing mortality and morbidity.

Study Design: Randomised clinical trial.

Place And Duration Of Study: Department of Neonatology, Services Hospital, Lahore, Pakistan from April to December 2019. Read More

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Characteristics and predictors of early hospital deaths in newly diagnosed APL: a 13-year population-wide study.

Blood Adv 2021 07;5(14):2829-2838

Department of Medicine, The University of Hong Kong, Hong Kong SAR, China.

Despite therapeutic advances, early death (ED) remains a major factor curtailing survival of acute promyelocytic leukemia (APL). Studies examining factors that cause early death (ED; within 30 days of admission) and the correlation of survival with the timing of administration of all-trans retinoic acid (ATRA) and hemostatic parameters are scarce. We performed a cohort analysis of nonselect patients with newly diagnosed APL who presented to the health care system in Hong Kong, where oral arsenic trioxide was used. Read More

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Aberrant Development of Cross-Frequency Multiplex Functional Connectome in First-Episode, Drug-Naive Major Depressive Disorder and Schizophrenia.

Brain Connect 2021 Jul 16. Epub 2021 Jul 16.

South China Normal University, 12451, ZhongShan Street West NO.55, Guangzhou, Guangdong, China, 510631;

Background: Major depressive disorder (MDD) and schizophrenia (SCH) are both characterized by neurodevelopmental abnormalities; however, transdiagnostic and diagnosis-specific patterns of such abnormalities have rarely been examined, particularly in large-scale functional brain networks via advanced multilayer network models.

Methods: Here we collected resting-state functional MRI data from 45 MDD patients, 64 SCH patients and 48 healthy controls (13-45 years old), and constructed functional networks in different frequency intervals. The frequency-dependent networks were then fused by multiplex network models, followed by graph-based topological analyses. Read More

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Aetiology, diagnosis, and treatment of brachymetatarsia: a narrative review.

Musculoskelet Surg 2021 Jul 15. Epub 2021 Jul 15.

Department of Orthopaedics and Traumatology, Regional Center for Joint Arthroplasty, ASO Alessandria, Via Venezia 16, 16121, Alessandria, Italy.

Brachymetatarsia (BM), or hypoplastic metatarsal, is an abnormal shortening of one or more metatarsal bones with a female-to-male ratio of 10.53:1. Different causes are described in the literature, such as congenital, acquired, or iatrogenic, associated with different conditions and syndromes. Read More

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Multifaceted roles of centrosomes in development, health, and disease.

Authors:
Feifei Qi Jun Zhou

J Mol Cell Biol 2021 Jul 15. Epub 2021 Jul 15.

Institute of Biomedical Sciences, College of Life Sciences, Shandong Normal University, Jinan 250014, China.

The centrosome is a membrane-less organelle consisting of a pair of barrel-shaped centrioles and pericentriolar material and functions as the major microtubule-organizing center and signaling hub in animal cells. The past decades have witnessed the functional complexity and importance of centrosomes in various cellular processes such as cell shaping, division, and migration. In addition, centrosome abnormalities are linked to a wide range of human diseases and pathological states, such as cancer, reproductive disorder, brain disease, and ciliopathies. Read More

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