11,735 results match your criteria Kennedy Disease

Analysis of commonly expressed genes between first trimester fetal heart and placenta cell types in the context of congenital heart disease.

Sci Rep 2022 Jun 24;12(1):10756. Epub 2022 Jun 24.

Department of Physiology and Functional Genomics, University of Florida College of Medicine, Gainesville, FL, 32610, USA.

Congenital heart disease (CHD) is often associated with fetal growth abnormalities. During the first trimester of pregnancy, the heart and placenta develop concurrently, and share key developmental pathways. It is hypothesized that defective morphogenesis of either organ is synergistically linked. Read More

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Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-Sectional Analysis.

Neurology 2022 Jun 24. Epub 2022 Jun 24.

Fulcrum Therapeutics, Cambridge, MA.

Background And Objectives: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease characterized by progressive muscle weakness. MRI is a sensitive assessment of disease severity and progression. We developed a quantitative whole-body (WB) musculoskeletal MRI (WB-MSK-MRI) protocol analyzing muscles in their entirety. Read More

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Presurgical olfactory function as an indicator of the outcome of functional endoscopic sinus surgery in chronic rhinosinusitis with nasal polyps.

Eur Arch Otorhinolaryngol 2022 Jun 24. Epub 2022 Jun 24.

Smell and Taste Clinic, Department of Otorhinolaryngology, TU Dresden, Dresden, Germany.

Introduction: Chronic rhinosinusitis with nasal polyps (CRSwNP) often leads to impaired olfactory function and reduced quality of life. When conservative treatments such as nasal irrigation and topical steroids fail, functional endoscopic sinus surgery (FESS) is often necessary, because it improves symptoms and enhances quality of life.

Materials And Methods: A total of 88 patients was included in this prospective study. Read More

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Association of Performance on the Financial Capacity Instrument-Short Form With Brain Amyloid Load and Cortical Thickness in Older Adults.

Neurol Clin Pract 2022 Apr;12(2):113-124

Department of Quantitative Health Sciences (MV, JAA, WKK, M.M. Mielke, RCP), and Department of Neurology (M.M. Mielke, DSK, RCP), Mayo Clinic, Rochester, MN; Department of Neurology (YEG), Barrow Neurological Institute, Phoenix, AZ; Department of Psychiatry and Psychology (M.M. Machulda), and Department of Radiology (PV, VJL, CRJ), Mayo Clinic, Rochester, MN; Department of Neurology (EDR, AG, RCM, DCM), Department of Medicine (REK), and Alzheimer's Disease Center (DCM), University of Alabama at Birmingham.

Background And Objectives: To investigate the association of the Financial Capacity Instrument-Short Form (FCI-SF) performance and timing total scores with brain β-amyloid and cortical thickness in cognitively unimpaired (CU) (at baseline) older adults.

Methods: A total of 309 participants (aged 70 years or older) of the Mayo Clinic Study of Aging underwent C-Pittsburgh compound B PET amyloid imaging and MRI, and completed the FCI-SF. Abnormal amyloid PET was defined as standardized uptake value ratio ≥1. Read More

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Decreased Acetic Acid in the Stool of Preterm Infants Is Associated with an Increased Risk of Bronchopulmonary Dysplasia.

Nutrients 2022 Jun 10;14(12). Epub 2022 Jun 10.

Division of Newborn Medicine, New York-Presbyterian Hospital, Weill Cornell Medicine, New York, NY 10065, USA.

Background: Short-chain fatty acids (SCFAs), microbial metabolites, have been minimally studied in neonatal pathophysiology but have been associated with disease outcomes in adults. The objective of this manuscript was to determine if SCFA levels in maternal breastmilk (BM) and stool from preterm neonates impacted the risk of neonatal morbidities.

Methods: SCFA levels were quantified by liquid chromatography with tandem mass spectrometry on maternal BM and neonatal stool for preterm infants < 28 weeks' gestation (N = 72) on postnatal days 14 and 28. Read More

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RAGE against the Machine: Can Increasing Our Understanding of RAGE Help Us to Battle SARS-CoV-2 Infection in Pregnancy?

Int J Mol Sci 2022 Jun 7;23(12). Epub 2022 Jun 7.

School of Natural Sciences and Mathematics, Chaminade University of Honolulu, Honolulu, HI 96816, USA.

The receptor of advanced glycation end products (RAGE) is a receptor that is thought to be a key driver of inflammation in pregnancy, SARS-CoV-2, and also in the comorbidities that are known to aggravate these afflictions. In addition to this, vulnerable populations are particularly susceptible to the negative health outcomes when these afflictions are experienced in concert. RAGE binds a number of ligands produced by tissue damage and cellular stress, and its activation triggers the proinflammatory transcription factor Nuclear Factor Kappa B (NF-κB), with the subsequent generation of key proinflammatory cytokines. Read More

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High Resolution Analysis of Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.

Genes (Basel) 2022 May 28;13(6). Epub 2022 May 28.

Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark.

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder caused by the expansion of a CTG repeat in the 3'-UTR of , which is transcribed to a toxic gain-of-function RNA that affects splicing of a range of genes. The expanded repeat is unstable in both germline and somatic cells. The variable age at disease onset and severity of symptoms have been linked to the inherited CTG repeat length, non-CTG interruptions, and methylation levels flanking the repeat. Read More

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Depleting Ly6G Positive Myeloid Cells Reduces Pancreatic Cancer-Induced Skeletal Muscle Atrophy.

Cells 2022 Jun 10;11(12). Epub 2022 Jun 10.

Department of Physical Therapy, University of Florida, Gainesville, FL 32610, USA.

Immune cells can mount desirable anti-cancer immunity. However, some immune cells can support cancer disease progression. The presence of cancer can lead to production of immature myeloid cells from the bone marrow known as myeloid-derived suppressor cells (MDSCs). Read More

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Fetal and Newborn Management of Cloacal Malformations.

Children (Basel) 2022 Jun 14;9(6). Epub 2022 Jun 14.

Division of Colorectal and Pelvic Reconstruction, Children's National Hospital, Washington, DC 20010, USA.

Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a single perineal orifice. Prenatal sonography detects a few cases with findings such as renal and urinary tract malformations, intraluminal calcifications, dilated bowel, ambiguous genitalia, a cystic pelvic mass, or identification of other associated anomalies prompting further imaging. Multi-disciplinary collaboration between neonatology, pediatric surgery, urology, and gynecology is paramount to achieving safe outcomes. Read More

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Identification of LOC101927355 as a Novel Biomarker for Preeclampsia.

Biomedicines 2022 May 27;10(6). Epub 2022 May 27.

Faculty of Medicine, Universidad de los Andes, Santiago 7620001, Chile.

Preeclampsia, a disorder with a heterogeneous physiopathology, can be attributed to maternal, fetal, and/or placental factors. Long non-coding RNAs (lncRNAs) refer to a class of non-coding RNAs, the essential regulators of biological processes; their differential expression has been associated with the pathogenesis of multiple diseases. The study aimed to identify lncRNAs, expressed in the placentas and plasma of patients who presented with preeclampsia, as potential putative biomarkers of the disease. Read More

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Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".

Cereb Cortex 2022 Jun 24. Epub 2022 Jun 24.

Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human brain and skull development. Continued study of these and other historically understudied developmental anomalies has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular nomenclature that may increase precision for genetic counseling, prognostication, and surgical treatment stratification-including when not to operate. Data will also inform future clinical trials, catalyze the development of targeted therapies, and generate infrastructure and publicly available data sets relevant for other related nonsurgical neurodevelopmental and neuropsychiatric diseases. Read More

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Combining interventions to reduce the spread of viral misinformation.

Nat Hum Behav 2022 Jun 23. Epub 2022 Jun 23.

Center for an Informed Public, University of Washington, Seattle, WA, USA.

Misinformation online poses a range of threats, from subverting democratic processes to undermining public health measures. Proposed solutions range from encouraging more selective sharing by individuals to removing false content and accounts that create or promote it. Here we provide a framework to evaluate interventions aimed at reducing viral misinformation online both in isolation and when used in combination. Read More

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A method for the inference of cytokine interaction networks.

PLoS Comput Biol 2022 06 22;18(6):e1010112. Epub 2022 Jun 22.

Wolfson Centre for Mathematical Biology, Mathematical Institute, University of Oxford, Oxford, United Kingdom.

Cell-cell communication is mediated by many soluble mediators, including over 40 cytokines. Cytokines, e.g. Read More

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MR elastography outperforms shear wave elastography for the diagnosis of clinically significant portal hypertension.

Eur Radiol 2022 Jun 21. Epub 2022 Jun 21.

BioMedical Engineering and Imaging Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Objectives: Portal hypertension (PH) is associated with complications such as ascites and esophageal varices and is typically diagnosed through invasive hepatic venous pressure gradient (HVPG) measurement, which is not widely available. In this study, we aim to assess the diagnostic performance of 2D/3D MR elastography (MRE) and shear wave elastography (SWE) measures of liver and spleen stiffness (LS and SS) and spleen volume, to noninvasively diagnose clinically significant portal hypertension (CSPH) using HVPG measurement as the reference.

Methods: In this prospective study, patients with liver disease underwent 2D/3D MRE and SWE of the liver and spleen, as well as HVPG measurement. Read More

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Prenatal programming of developmental trajectories for obesity risk and early pubertal timing.

Dev Psychol 2022 Jun 20. Epub 2022 Jun 20.

Department of Psychology.

The thrifty phenotype and fetal overnutrition hypotheses are two developmental hypotheses that originated from the (DOHaD) perspective. The DOHaD posits that exposures experienced prenatally and early in life may influence health outcomes through altering form and function of internal organs related to metabolic processes. Obesity risk and early pubertal timing might be influenced by similar mechanisms. Read More

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Sleep-Related Infant Deaths: Updated 2022 Recommendations for Reducing Infant Deaths in the Sleep Environment.

Pediatrics 2022 Jun 21. Epub 2022 Jun 21.

Department of Pediatrics, SUNY-Downstate College of Medicine, NYC Health + Hospitals |Kings County, Brooklyn, New York.

Each year in the United States, ∼3500 infants die of sleep-related infant deaths, including sudden infant death syndrome (SIDS) (International Classification of Diseases, 10th Revision [ICD-10] R95), ill-defined deaths (ICD-10 R99), and accidental suffocation and strangulation in bed (ICD-10 W75). After a substantial decline in sleep-related deaths in the 1990s, the overall death rate attributable to sleep-related infant deaths has remained stagnant since 2000, and disparities persist. The triple risk model proposes that SIDS occurs when an infant with intrinsic vulnerability (often manifested by impaired arousal, cardiorespiratory, and/or autonomic responses) undergoes an exogenous trigger event (eg, exposure to an unsafe sleeping environment) during a critical developmental period. Read More

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Pandemic Responsiveness in an Acute Care Setting: A Community Hospital's Utilization of Operational Resources During COVID-19.

J Multidiscip Healthc 2022 14;15:1309-1321. Epub 2022 Jun 14.

Royal Victoria Regional Health Centre, Barrie, ON, Canada.

Background: To ensure continuity of services while mitigating patient surge and nosocomial infections during the coronavirus disease 2019 (COVID-19) pandemic, acute care hospitals have been required to make significant operational adjustments. Here, we identify and discuss key administrative priorities and strategies utilized by a large community hospital located in Ontario, Canada.

Methods: Guided by a qualitative descriptive approach, we performed a thematic analysis of all COVID-19-related documentation discussed by the hospital's emergency operation centre (EOC) during the pandemic's first wave. Read More

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Compilation of parasitic immunogenic proteins from 30 years of published research using machine learning and natural language processing.

Sci Rep 2022 Jun 20;12(1):10349. Epub 2022 Jun 20.

School of Life Sciences, University of Technology Sydney, 15 Broadway, Ultimo, NSW, 2007, Australia.

The World Health Organisation reported in 2020 that six of the top 10 sources of death in low-income countries are parasites. Parasites are microorganisms in a relationship with a larger organism, the host. They acquire all benefits at the host's expense. Read More

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Monocyte anisocytosis increases during multisystem inflammatory syndrome in children with cardiovascular complications.

BMC Infect Dis 2022 Jun 20;22(1):563. Epub 2022 Jun 20.

Harvard Medical School, Boston, MA, USA.

Background: Multisystem inflammatory syndrome in children (MIS-C) is a life-threatening complication that can develop weeks to months after an initial SARS-CoV-2 infection. A complex, time-consuming laboratory evaluation is currently required to distinguish MIS-C from other illnesses. New assays are urgently needed early in the evaluation process to expedite MIS-C workup and initiate treatment when appropriate. Read More

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Predicting Homelessness Among U.S. Army Soldiers No Longer on Active Duty.

Am J Prev Med 2022 Jul 14;63(1):13-23. Epub 2022 Apr 14.

Department of Health Care Policy, Harvard Medical School, Boston, Massachusetts.

Introduction: The ability to predict and prevent homelessness has been an elusive goal. The purpose of this study was to develop a prediction model that identified U.S. Read More

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The diagnostic importance of periostin as a biomarker in chronic rhinosinusitis with nasal polyp.

Eur Arch Otorhinolaryngol 2022 Jun 20. Epub 2022 Jun 20.

Department of Otorhinolaryngology, Antalya Training and Research Hospital, Antalya, Turkey.

Purpose: The current studies in the literature report that periostin contributes to the formation of nasal polyps and may be a molecular biomarker for chronic rhinosinusitis with nasal polyps (CRSwNP). This study aims to investigate the effect of periostin in determining polyp burden in CRSwNP patients and evaluate its impact on postoperative surgical results and its functionality as a biomarker.

Methods: The study included 26 patients who underwent endoscopic sinus surgery due to CRSwNP and 30 patients who were scheduled to undergo septoplasty due to isolated nasal septum deviation. Read More

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Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications.

J Neurol 2022 Jun 20. Epub 2022 Jun 20.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, 2825 50th Street, Sacramento, CA, 95817, USA.

There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD) with multiple forms of ASD having been identified over the decades. Among these, a genetic etiology can be identified in 20-40% of cases when a full genetic work-up is completed. The Fragile X premutation state (characterized by the presence of 55-200 CGG repeats in the FMR1 gene) is a relatively newly identified disease state that has since been associated with several disorders including fragile X-associated tremor ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI) and most recently, fragile X-associated neurodevelopmental disorders (FXAND) which commonly includes anxiety and depression. Read More

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Inpatient Telehealth and Coronavirus Disease 2019 Outcomes: Experiences in Alabama.

Telemed Rep 2021 18;2(1):148-155. Epub 2021 May 18.

School of Health and Applied Human Sciences, University of North Carolina at Wilmington, Wilmington, North Carolina, USA.

During the early months of the coronavirus disease 2019 (COVID-19) pandemic, hospitals were concerned about preserving personal protective equipment. UAB Hospital Medicine designed a strategy to outfit acute care patient rooms on a COVID-19 unit with telemedicine technology to allow for remote clinician rounding. To describe one hospital's experience with inpatient telehealth and compare outcomes between patients with and without inpatient telehealth visits. Read More

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CD5 Controls Gut Immunity by Shaping the Cytokine Profile of Intestinal T Cells.

Front Immunol 2022 2;13:906499. Epub 2022 Jun 2.

Joslin Diabetes Center, Harvard Medical School, Boston, MA, United States.

CD5 is constitutively expressed on all T cells and is a negative regulator of lymphocyte function. However, the full extent of CD5 function in immunity remains unclear. CD5 deficiency impacts thymic selection and extra-thymic regulatory T cell generation, yet CD5 knockout was reported to cause no immune pathology. Read More

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Restricting α-synuclein transport into mitochondria by inhibition of α-synuclein-VDAC complexation as a potential therapeutic target for Parkinson's disease treatment.

Cell Mol Life Sci 2022 Jun 19;79(7):368. Epub 2022 Jun 19.

Section On Molecular Transport, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bldg. 29B, Room 1G09, Bethesda, MD, 20892, USA.

Involvement of alpha-synuclein (αSyn) in Parkinson's disease (PD) is complicated and difficult to trace on cellular and molecular levels. Recently, we established that αSyn can regulate mitochondrial function by voltage-activated complexation with the voltage-dependent anion channel (VDAC) on the mitochondrial outer membrane. When complexed with αSyn, the VDAC pore is partially blocked, reducing the transport of ATP/ADP and other metabolites. Read More

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

Brain 2022 Jun 20. Epub 2022 Jun 20.

Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.

The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group of neurodegenerative diseases that may be divided into 'pure HSP' in forms of the disease primarily entailing progressive lower-limb weakness and spasticity, and 'complex HSP' when these features are accompanied by other neurological (or non-neurological) clinical signs. Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation channel, in individuals with hereditary spastic paraplegias associated with mild intellectual disability in some, but not all cases. Read More

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The association between ambient UVB dose and ANCA-associated vasculitis relapse and onset.

Arthritis Res Ther 2022 Jun 18;24(1):147. Epub 2022 Jun 18.

Department of Public Health and Primary Care, Trinity College Dublin, The University of Dublin, Dublin, Ireland.

Background: The aetiology of ANCA-associated vasculitis (AAV) and triggers of relapse are poorly understood. Vitamin D (vitD) is an important immunomodulator, potentially responsible for the observed latitudinal differences between granulomatous and non-granulomatous AAV phenotypes. A narrow ultraviolet B spectrum induces vitD synthesis (vitD-UVB) via the skin. Read More

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Neurocognitive screening in sickle cell disease.

Pediatr Blood Cancer 2022 Jun 18:e29861. Epub 2022 Jun 18.

Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD.

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Associations Between School Absence and School Violence by Sexual Identity.

Am J Prev Med 2022 Jun 14. Epub 2022 Jun 14.

Division of Adolescent and School Health, National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, Centers for Disease Control and Prevention, Atlanta, Georgia.

Introduction: Sexual minority youth are disproportionately exposed to school violence compared with their heterosexual peers. It is unknown whether the associations between school absence and exposure to school violence vary by sexual identity.

Methods: In 2021, data were combined from the 2015, 2017, and 2019 national Youth Risk Behavior Surveys to produce nationally representative samples of U. Read More

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