96,776 results match your criteria deformities observed

Neuronal cells from bipolar individuals are more susceptible to glutamate induced apoptosis than cells from non-bipolar subjects.

J Affect Disord 2021 Jul 20;294:568-573. Epub 2021 Jul 20.

Department of Psychiatry and Behavioral Sciences, University of Louisville School of Medicine, 401 East Chestnut Street, Suite 610, Louisville, KY 40202, USA. Electronic address:

Background: Bipolar disorder (BD) is associated with marked parenchymal brain loss in a significant fraction of patients. The lack of necrosis in postmortem examination suggests an apoptotic process. Emerging evidence suggests that mood stabilizers, like lithium, have antiapoptotic actions. Read More

View Article and Full-Text PDF

Neurodevelopmental Profile in Children Affected by Ocular Albinism.

Neuropediatrics 2021 Jul 29. Epub 2021 Jul 29.

Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

Aim:  The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis.

Design:  The design of the study involves a retrospective longitudinal observational case series.

Methods:  We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. Read More

View Article and Full-Text PDF

Maternal and neonatal outcomes related to Zika virus in pregnant women in Southern Vietnam: An epidemiological and virological prospective analysis.

Lancet Reg Health West Pac 2021 Jun 8;11:100163. Epub 2021 Jun 8.

Institut Pasteur, Paris, France.

Background: In 2016-2017, 68 women in Southern Vietnam had RT-PCR confirmed Zika virus (ZIKV) infection during pregnancy. We report here the outcomes of the pregnancies and the virological analyses related to this outbreak.

Methods: We collected clinical and epidemiological information from the women who were enrolled in the study. Read More

View Article and Full-Text PDF

Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia.

Case Rep Endocrinol 2021 16;2021:6686312. Epub 2021 Jul 16.

Department of Pediatrics, King Abdulaziz Hospital, Ministry of National Guard-Health Affairs, Al-Ahasa, Saudi Arabia.

Fanconi anemia (FA) is a rare autosomal recessive inherited disease caused by gene mutations that are primarily involved in the response to or repair of DNA damage. FA characterizes by multiple congenital abnormalities and malformations including growth retardation, renal agenesis, absence of radial bones and thumbs as well, progressive bone marrow failure, irregular skin pigmentation patterns, and increased susceptibility to cancer. FANCD2 gene mutation is believed to be one of the causative mutations in Fanconi anemia, and despite many case reports that link the FANC gene mutation to multiple congenital anomalies and disease, there is no case report found to link it with genitalia abnormalities. Read More

View Article and Full-Text PDF

Airwave oscillometry to measure lung function in children with Down syndrome.

Pediatr Res 2021 Jul 29. Epub 2021 Jul 29.

Department of Pediatrics, University of Colorado, Aurora, CO, USA.

Background: Children with Down syndrome are at risk for significant pulmonary co-morbidities, including recurrent respiratory infections, dysphagia, obstructive sleep apnea, and pulmonary vascular disease. Because the gold standard metric of lung function, spirometry, may not be feasible in children with intellectual disabilities, we sought to assess the feasibility of both airwave oscillometry and spirometry in children with Down syndrome.

Methods: Thirty-four children with Down syndrome aged 5-17 years were recruited. Read More

View Article and Full-Text PDF

Combined treatment with C16 peptide and angiopoietin-1 confers neuroprotection and reduces inflammation in 3-nitropropionic acid-induced dystonia mice.

Aging (Albany NY) 2021 Jul 29;13(undefined). Epub 2021 Jul 29.

Institute of Anatomy and Cell Biology and Sir Run Run Shaw Hospital, Medical College, Zhejiang University, Hangzhou, China.

Dystonia is a disorder associated with abnormalities in many brain regions including the basal ganglia and cerebellum. The toxin 3-Nitropropionic acid (3-NP) can induce neuropathologies in the mice striatum and nigra substance, including excitotoxicity, neuroinflammation, and extensive neuronal atrophy, characterized by progressive motor dysfunction, dystonia, and memory loss, mimicking those observed in humans. We established a mouse model of dystonia by administering 3-NP. Read More

View Article and Full-Text PDF

Application of Comprehensive Artificial intelligence Retinal Expert (CARE) system: a national real-world evidence study.

Lancet Digit Health 2021 Aug;3(8):e486-e495

Guangdong Medical Devices Quality Surveillance and Test Institute, Guangzhou, Guangdong, China.

Background: Medical artificial intelligence (AI) has entered the clinical implementation phase, although real-world performance of deep-learning systems (DLSs) for screening fundus disease remains unsatisfactory. Our study aimed to train a clinically applicable DLS for fundus diseases using data derived from the real world, and externally test the model using fundus photographs collected prospectively from the settings in which the model would most likely be adopted.

Methods: In this national real-world evidence study, we trained a DLS, the Comprehensive AI Retinal Expert (CARE) system, to identify the 14 most common retinal abnormalities using 207 228 colour fundus photographs derived from 16 clinical settings with different disease distributions. Read More

View Article and Full-Text PDF

BDE-47 induces nephrotoxicity through ROS-dependent pathways of mitochondrial dynamics in PK15 cells.

Ecotoxicol Environ Saf 2021 Jul 26;222:112549. Epub 2021 Jul 26.

Institute for Agri-Food Standards and Testing Technology, Shanghai Academy of Agricultural Sciences, Shanghai 201403, China. Electronic address:

2,2',4,4'-tetrabromodiphenyl ether (BDE-47)-induced nephrotoxicity is closely associated with oxidative stresses and mitochondrial abnormalities. Mitochondrial fusion and fission dynamics are crucial for maintaining mitochondrial and cellular physiological homeostasis. However, the detailed mechanisms through which BDE-47 disrupts this dynamic and contributes to renal injuries are still not fully understood. Read More

View Article and Full-Text PDF

Clonazepam attenuates neurobehavioral abnormalities in offspring exposed to maternal immune activation by enhancing GABAergic neurotransmission.

Biochem Pharmacol 2021 Jul 26:114711. Epub 2021 Jul 26.

State Key Laboratory of Quality Research in Chinese Medicine and Institute of Chinese Medical Sciences, University of Macau, Macao 999078, China. Electronic address:

Ample evidence indicates that maternal immune activation (MIA) during gestation is linked to an increased risk for neurodevelopmental and psychiatric disorders, such as autism spectrum disorder (ASD), anxiety and depression, in offspring. However, the underlying mechanism for such a link remains largely elusive. Here, we performed RNA sequencing (RNA-seq) to examine the transcriptional profiles changes in mice in response to MIA and identified that the expression of Scn1a gene, encoding the pore-forming α-subunit of the brain voltage-gated sodium channel type-1 (Na1. Read More

View Article and Full-Text PDF

Ocular surface complications in diabetes: The interrelationship between insulin and enkephalin.

Biochem Pharmacol 2021 Jul 26:114712. Epub 2021 Jul 26.

Department of Neural and Behavioral Sciences, Penn State University College of Medicine, Hershey, PA 17033, USA. Electronic address:

Diabetes is a multi-faceted disorder with increasing prevalence and rising healthcare costs. The burden of diabetes is increased because of associated complications affecting nearly all organs including the eye. The underlying pathophysiology for the onset of these ocular surface disorders is not well known. Read More

View Article and Full-Text PDF

An investigation into the biological effects of indirect potable reuse water using zebrafish embryos.

Sci Total Environ 2021 May 24;789:147981. Epub 2021 May 24.

Brunel University London, Institute for Environment Health and Societies, UB8 3PH, UK. Electronic address:

Advanced treatment technologies are being assessed as a proactive measure to assist with the transformation of treated wastewater into a source of water for potable water production. We investigated the biological effects along an advanced water treatment pilot plant, using zebrafish embryos throughout early development. The study compared phenotypic observations with global transcriptome responses, enabling us to keep an open mind about the chemicals that might influence the biological activity. Read More

View Article and Full-Text PDF

Regulatory B cell imbalance correlates with Tfh expansion in systemic sclerosis.

Clin Exp Rheumatol 2021 Jul-Aug;39 Suppl 131(4):20-24. Epub 2021 Jul 28.

INSERM U938, Centre de Recherche Saint-Antoine, Paris; Sorbonne Université, Paris, and Service de Médecine Interne and Inflammation-Immunopathology-Biotherapy Department (DMU 3iD), AP-HP, Hôpital Saint-Antoine, Paris, France.

Objectives: Systemic sclerosis (SSc) is an autoimmune disease with fibrosis, microangiopathy and immune dysfunction. B cell abnormalities characterised by autoantibody production and polyclonal B cell activation play an important role in the pathogenesis of SSc. We previously identified an expansion of functional and activated circulating T follicular helper (cTfh) cells in SSc patients. Read More

View Article and Full-Text PDF

Carnosine, oxidative and carbonyl stress, antioxidants and muscle fiber characteristics of quadriceps muscle of patients with COPD.

J Appl Physiol (1985) 2021 07 29. Epub 2021 Jul 29.

Ghent University, Department of Movement and Sports Sciences, Ghent, Belgium.

Background: Oxidative/carbonyl stress is elevated in lower-limb muscles of patients with Chronic Obstructive Pulmonary Disease (COPD). Carnosine is a skeletal muscle antioxidant particularly present in fast-twitch fibers.

Aims: To compare muscle carnosine, oxidative/carbonyl stress, antioxidants and fiber characteristics between patients with COPD and healthy controls (HCs), and between patients after stratification for airflow limitation (mild/moderate vs. Read More

View Article and Full-Text PDF

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.

Mol Genet Genomic Med 2021 Jul 29:e1770. Epub 2021 Jul 29.

Medical Genetics Center, Southwest Hospital, Army Medical University, Chongqing, China.

Background: Waardenburg syndrome (WS) is a rare autosomal-dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics. MITF is one of the major pathogenic genes for type II. Read More

View Article and Full-Text PDF

Improving the predictive potential of diffusion MRI in schizophrenia using normative models-Towards subject-level classification.

Hum Brain Mapp 2021 Jul 29. Epub 2021 Jul 29.

Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Diffusion MRI studies consistently report group differences in white matter between individuals diagnosed with schizophrenia and healthy controls. Nevertheless, the abnormalities found at the group-level are often not observed at the individual level. Among the different approaches aiming to study white matter abnormalities at the subject level, normative modeling analysis takes a step towards subject-level predictions by identifying affected brain locations in individual subjects based on extreme deviations from a normative range. Read More

View Article and Full-Text PDF

First direct human-to-cat transmission of the SARS-CoV-2 B.1.1.7 variant.

Aust Vet J 2021 Jul 29. Epub 2021 Jul 29.

DESAM Institute, Near East University, Nicosia, 99138, Cyprus.

A highly transmissible severe acute respiratory coronavirus 2 (SARS-CoV-2) caused the coronavirus diseases 2019 (COVID-19) pandemic, which resulted the highest morbidity and mortality rates among SARS-CoV and MERS-CoV. SARS-CoV-2 B.1. Read More

View Article and Full-Text PDF

Cytotoxic and genotoxic assessment of agricultural soils from an industrial region.

Environ Monit Assess 2021 Jul 28;193(8):526. Epub 2021 Jul 28.

Department of Botany, Panjab University, Chandigarh, 160014, India.

Industrial effluents contain hazardous substances that can be a serious threat to the agriculture and human health. In the present study, the cytotoxic and genotoxic impacts of agricultural soil from the industrial area of Dera Bassi (Punjab, India) have been evaluated. Assays such as defects in DNA repair in K-12 mutants of Escherichia coli and chromosomal aberrations in Allium cepa were used to estimate the acute toxicity and chromosomal mutagenesis, respectively. Read More

View Article and Full-Text PDF

Foveal Remodeling of Retinal Microvasculature in Parkinson's Disease.

Front Neurosci 2021 12;15:708700. Epub 2021 Jul 12.

Neurodegenerative Diseases Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.

Background: Retinal microvascular alterations have been previously described in Parkinson's disease (PD) patients using optical coherence tomography angiography (OCT-A). However, an extensive description of retinal vascular morphological features, their association with PD-related clinical variables and their potential use as diagnostic biomarkers has not been explored.

Methods: We performed a cross-sectional study including 49 PD patients (87 eyes) and 40 controls (73 eyes). Read More

View Article and Full-Text PDF

Cardiac-specific deletion of voltage dependent anion channel 2 leads to dilated cardiomyopathy by altering calcium homeostasis.

Nat Commun 2021 07 28;12(1):4583. Epub 2021 Jul 28.

Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, Salt Lake City, UT, USA.

Voltage dependent anion channel 2 (VDAC2) is an outer mitochondrial membrane porin known to play a significant role in apoptosis and calcium signaling. Abnormalities in calcium homeostasis often leads to electrical and contractile dysfunction and can cause dilated cardiomyopathy and heart failure. However, the specific role of VDAC2 in intracellular calcium dynamics and cardiac function is not well understood. Read More

View Article and Full-Text PDF

Importance of confirming the underlying diagnosis in patients with myocardial infarction and non-obstructive coronary arteries (MINOCA): a single-centre retrospective cohort study.

BMC Cardiovasc Disord 2021 Jul 28;21(1):357. Epub 2021 Jul 28.

Department of Cardiology, Zuyderland Medical Centre, P.O. Box 5500, 6130 MB, Sittard-Geleen, Heerlen, The Netherlands.

Background: Many patients with myocardial infarction with non-obstructive coronary arteries (MINOCA) are discharged without a known aetiology for their clinical presentation. This study sought to assess the effect of this 'indeterminate MINOCA' diagnosis on the prevalence of recurrent cardiovascular events and presentations to the Cardiac Emergency Department (CED).

Methods: We retrospectively analysed all patients meeting the diagnostic MINOCA criteria presenting at a large secondary hospital between January 2017 and April 2019. Read More

View Article and Full-Text PDF

Alar Rim Triangular Flap for Congenital Nasal Cleft Repair in Pediatric Patients.

J Craniofac Surg 2021 Jul 27. Epub 2021 Jul 27.

Department of Plastic & Reconstructive Surgery, The Ninth People's Hospital Affiliated to Shanghai Jiaotong Medicine University, Shanghai Department of Burns and Plastic Surgery, Minzu Hospital of Guangxi, Nanning, China.

Background: According to Tessier classification, number 1 and number 2 craniofacial clefts involve the nasal ala. Congenital nasal cleft is not common and is difficult for reconstruction. Notches in the medial one-third of either nasal ala are typical manifestations in these patients. Read More

View Article and Full-Text PDF

Retrospective Analysis of EEG in Patients With COVID-19: EEG Recording in Acute and Follow-up Phases.

Clin EEG Neurosci 2021 Jul 28:15500594211035923. Epub 2021 Jul 28.

16507Department of Clinical Neurophysiology, Hospital Universitario Ramón y Cajal, Madrid, Spain.

. Interest in electroencephalographic (EEG) coronavirus disease 2019 (COVID-19) findings has been growing, especially in the search for a specific-features EEG of encephalopathy. . Read More

View Article and Full-Text PDF

Combination of midbrain-to-pontine ratio and cardiac MIBG scintigraphy to differentiate Parkinson's disease from multiple system atrophy and progressive supranuclear palsy.

Clin Park Relat Disord 2020 11;2:20-24. Epub 2019 Dec 11.

Background: An early clinical differentiation between Parkinson's disease (PD) and multiple system atrophy (MSA) or progressive supranuclear palsy (PSP) remains a challenge. The purpose of this study was to evaluate the usefulness of the combination use of midbrain-to-pontine ratio (M/P ratio) from magnetic resonance imaging (MRI) with cardiac I-metaiodobenzylguanidine (MIBG) uptake for differentiating PD from MSA and PSP.

Methods: Ninety-six parkinsonian patients (70 PD, aged 68. Read More

View Article and Full-Text PDF
December 2019

Sepsis: Evidence-based pathogenesis and treatment.

Jay Pravda

World J Crit Care Med 2021 Jul 9;10(4):66-80. Epub 2021 Jul 9.

Inflammatory Disease Research Centre, Therashock LLC, Palm Beach Gardens, FL 33410, United States.

Sepsis can develop during the body's response to a critical illness leading to multiple organ failure, irreversible shock, and death. Sepsis has been vexing health care providers for centuries due to its insidious onset, generalized metabolic dysfunction, and lack of specific therapy. A common factor underlying sepsis is the characteristic hypermetabolic response as the body ramps up every physiological system in its fight against the underlying critical illness. Read More

View Article and Full-Text PDF

The Spectrum of Chromosomal Abnormalities and Endocrine Profile of Male Infertility with Nonobstructive Semen Abnormality: A Case-Control Study.

J Hum Reprod Sci 2021 Apr-Jun;14(2):175-183. Epub 2021 Jun 28.

Department of Community Medicine, Adichunchanagiri Institute of Medical Sciences, Nagara, Karnataka, India.

Background: Primary infertility is a common occurrence which affects approximately 15% of couples who desire to begin their family. Chromosomal abnormalities are well-established causes of pregnancy loss but may also have a role in explaining the cause of male infertility, especially with nonobstructive semen abnormalities. Hence, awareness regarding safety of artificial reproductive technology in these individuals due to underlying sperm aneuploidy is required. Read More

View Article and Full-Text PDF

Atrial septal defect with Crochetage sign presenting with pulmonary artery thrombosis.

BMJ Case Rep 2021 Jul 27;14(7). Epub 2021 Jul 27.

Department of Cardiology, Hospital Sultanah Aminah, Johor Bahru, Johor, Malaysia.

Atrial septal defect (ASD) is the most common congenital heart disease observed in adult. Several ECG findings are considered sensitive for the diagnosis of ASD. We describe a 50 years old man who displayed Crochetage sign, incomplete right bundle branch block (IRBBB) and right ventricular strain pattern on ECG. Read More

View Article and Full-Text PDF

Physeal injury in a skeletally immature male athlete.

BMJ Case Rep 2021 Jul 27;14(7). Epub 2021 Jul 27.

University of Central Florida College of Medicine, Orlando, Florida, USA

A 12-year-old skeletally immature male athlete presented for evaluation with acute bilateral knee pain. Initial radiographs revealed subtle lucency of the medial proximal tibial physis and MRI was recommended. On MRI, broad-based intravasation of the physis into the proximal femoral and tibial physes was observed. Read More

View Article and Full-Text PDF

Impact of Protein-Losing Enteropathy on Inflammatory Biomarkers and Vascular Dysfunction in Fontan Circulation.

Am J Cardiol 2021 Jul 24. Epub 2021 Jul 24.

Division of Pediatric Cardiology, Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor, Michigan. Electronic address:

Fontan palliation has improved survival for single ventricle patients, but long-term complications persist including cardiovascular dysfunction, neurohormonal abnormalities, and protein-losing enteropathy (PLE). Although chronic inflammation contributes to morbidity, an association between inflammation and vascular dysfunction has not been studied. We assessed inflammation and vascular function in 31 Fontan-palliated patients (52% male, median age 14. Read More

View Article and Full-Text PDF

Pharmacokinetics and safety of liposomal bupivacaine after local infiltration in healthy Chinese adults: a phase 1 study.

BMC Anesthesiol 2021 Jul 27;21(1):197. Epub 2021 Jul 27.

Pacira BioSciences, Inc., 5 Sylvan Way, Parsippany-Troy Hills, NJ, USA.

Background: Liposomal bupivacaine (LB) is a long-acting formulation of bupivacaine. The safety and efficacy of LB has been demonstrated across surgical procedures. However, pharmacokinetic (PK) parameters and safety of LB in the Chinese population have not been assessed. Read More

View Article and Full-Text PDF

Neuroimaging in Children Born With Congenital Zika Syndrome: A Cohort Study.

J Child Neurol 2021 Jul 28:8830738211027719. Epub 2021 Jul 28.

Department of Pediatrics, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Pernambuco, Brazil.

Background And Purpose: Neuroimaging findings have been associated with adverse neurologic outcomes in children with congenital Zika virus infection. Our purpose is to describe the brain magnetic resonance imaging (MRI) of children around 3 years of age, born with congenital Zika syndrome.

Methods: This cohort study followed 62 children born with congenital Zika syndrome who had head computed tomography (CT) performed during the first months of life. Read More

View Article and Full-Text PDF