797 results match your criteria: "Office of the Clinical Director[Affiliation]"

A randomized, double-blind, placebo-controlled study of a GHSR blocker in people with alcohol use disorder.

JCI Insight

December 2024

Clinical Psychoneuroendocrinology and Neuropsychopharmacology Section, Translational Addiction Medicine Branch, National Institute on Drug Abuse (NIDA) Intramural Research Program, National Institute on Alcohol Abuse and Alcoholism (NIAAA) Division of Intramural Clinical and Biological Research, NIH, Baltimore and Bethesda, Maryland, USA.

BACKGROUNDStudies have demonstrated the role of ghrelin in alcohol-related behaviors and consumption. Blockade of the growth hormone secretagogue receptor (GHSR), which is the ghrelin receptor, has been shown to decrease alcohol drinking and reward-related behaviors across several animal models. We previously conducted a human study testing a GHSR inverse agonist/competitive antagonist, PF-5190457, in individuals who are heavy drinkers and showed its safety when coadministered with alcohol.

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Article Synopsis
  • Treatment for alcohol use disorder (AUD) is important for improving health outcomes in patients with alcohol-associated cirrhosis, yet it remains underutilized, especially among socioeconomically disadvantaged groups.
  • A study of 196 diverse patients revealed that 67% had ever utilized AUD treatment, while only 32% accessed treatment in the last year; younger patients and those with worse mental health symptoms were more likely to seek treatment.
  • Factors such as older age and better liver disease quality of life were associated with lower treatment utilization, while those with significant anxiety or depression tended to seek treatment more frequently.
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Article Synopsis
  • - The study evaluated the efficacy of telehealth in conducting physical examinations (PE) for individuals with undiagnosed and rare disorders, comparing virtual assessments to in-person examinations.
  • - Results showed high agreement in general appearance and craniofacial features between telehealth and in-person evaluations, with varying levels of agreement for neurological examination components.
  • - Participants reported satisfaction with the telehealth experience, indicating that telehealth is a viable alternative for conducting physical examinations in cases of undiagnosed diseases.
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Chedíak-Higashi Syndrome: Hair-to-toe spectrum.

Semin Pediatr Neurol

December 2024

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Article Synopsis
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Lessons learned from 150 total gastrectomies for prevention of cancer.

J Gastrointest Surg

November 2024

Surgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

Background: Prophylactic total gastrectomy (PTG) is performed in carriers of CDH1 pathogenic and likely pathogenic (P/LP) variants and is becoming more frequent with broader use of germline genetic testing. There is an unmet need to standardize care and enhance outcomes among patients undergoing surgery for the prevention of gastric cancer.

Methods: This was a retrospective analysis of 150 individuals with germline CDH1 P/LP variants who underwent PTG as part of a prospective natural history study from October 2017 to May 2023.

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Primary Ovarian Insufficiency, Bone Health, and Other Outcomes in Adolescents.

Obstet Gynecol Clin North Am

December 2024

Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NICHD Office of the Clinical Director, 10 CRC, Room 5-2583, 10 Center Drive, MSC 1109, Bethesda, MD 20892, USA.

Article Synopsis
  • - Adolescents with primary ovarian insufficiency (POI) often experience stopped puberty or absent menstrual periods, highlighting the need for early assessment of any menstrual issues to prevent delays in diagnosis.
  • - POI can result from genetic, autoimmune, or medical treatment causes, but many cases do not have a known cause, making timely hormone replacement therapy essential for proper puberty development and overall health.
  • - The diagnosis of POI can be surprising and significantly impact a teenager's life, requiring a compassionate approach that includes educational support and input from various healthcare specialists.
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Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD).

Stem Cell Res

December 2024

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal accumulation of free sialic acid and other acid hexoses. The clinical spectrum of FSASD ranges from mild (Salla disease) to severe infantile forms.

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Introduction: In 2017, we launched the "B-Team" (buprenorphine team), the first hospitalist-led opioid use disorder (OUD) treatment program in Texas. Based on initial success, we obtained funding from Texas Health & Human Services to expand the model to other hospitals in Texas through the Support Hospital Opioid Use Disorder Treatment (SHOUT) Texas program.

Methods: This is a mixed methods study of the implementation of the SHOUT program, which is an OUD treatment intervention, in different hospitals in Texas.

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Long-term retention of real-world experiences in a patient with profound amnesia.

Neuropsychologia

November 2024

Section on Cognitive Neuropsychology, Laboratory of Brain and Cognition, National Institute of Mental Health, Bethesda, MD, USA.

The medial temporal lobe (MTL) is known to be critical for healthy memory function, but patients with MTL damage can, under certain circumstances, demonstrate successful learning of novel information encountered outside the laboratory. Here, we describe a patient, D.C.

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Background: Cardiovascular disease (CVD) and neuroinflammation are thought to exacerbate neurocognitive dysfunction in treated people with human immunodeficiency virus (PWH). Here, we longitudinally measured brain glucose metabolism as a measure of neuronal integrity in treated PWH using [F]Fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) in correlation with atherosclerotic cardiovascular disease (ASCVD) scores, cerebrospinal fluid (CSF) neuroinflammatory markers, neurocognitive outcomes, and other clinical and laboratory variables (CLVs).

Methods: Well-controlled PWH (n = 36) underwent baseline and follow-up FDG PET/CT obtained 3.

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Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease.

medRxiv

August 2024

Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda MD USA.

GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the gene. GM1 is uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or biomarkers demonstrating the longitudinal effects of GM1 and potential recovery due to therapeutic intervention are urgently needed to establish efficacy of potential therapeutics.

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The effect of alcohol, tobacco, and other drug use on vaccine acceptance, uptake, and adherence: a systematic review.

Alcohol Alcohol

September 2024

Clinical Psychoneuroendocrinology and Neuropsychopharmacology Section, Translational Addiction Medicine Branch, National Institute on Drug Abuse Intramural Research Program and National Institute on Alcohol Abuse and Alcoholism Division of Intramural Clinical and Biological Research, National Institutes of Health, 251 Bayview Blvd, Suite 200, Baltimore, MD 21224, United States.

Background: Vaccine hesitancy is increasingly recognized as a health challenge affecting populations worldwide. Given the biological vulnerabilities and structural barriers people who use substances and/or have behavioral addictions face, this systematic review aims to evaluate whether this subpopulation is less prone to adhere to vaccination recommendations.

Methods: Electronic searches of published original research were conducted in PubMed, EMBASE, Scopus, and PsycINFO from database inception to December 2022.

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Purpose: Stressful life events are associated with problematic drinking, and alcohol misuse has been exacerbated during the coronavirus disease 2019 (COVID-19) pandemic. While coping motives may account for this association, positive life events (PLEs) and enhancement motives are understudied. To address these gaps, we examined the associations of history of alcohol use disorder (AUD), negative life events (NLEs), and PLEs with problematic alcohol use and tested coping and enhancement motives as mediators.

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Article Synopsis
  • The study examines the impact of high-potency synthetic opioids (HPSOs) on addiction treatment, with a focus on how they affect the prescribing practices of addiction specialists in the USA.
  • Findings reveal that a significant majority of addiction specialists (89%) believe HPSOs have influenced treatment protocols, with 84% seeing a need for additional opioid agonist therapies beyond methadone.
  • The study highlights a strong support (80%) among specialists for using slow-release oral morphine (SROM) as a potential new treatment option for opioid use disorder (OUD) in response to the growing crisis.
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Dynamics of Splenic Transient Elastography in Patients With Alcohol Use Disorder.

Clin Transl Gastroenterol

November 2024

Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

Introduction: Splenic stiffness (SS) measurement (SSM) is an evolving noninvasive assessment to evaluate portal hypertension. Studies with respect to SSM in patients with alcohol use disorder are limited.

Methods: We studied patients seeking treatment for alcohol use disorder in an inpatient treatment protocol at the National Institutes of Health and parsed SSM into 3 groups based on degree of change.

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Background: Although diet quality during pregnancy and postpartum is important for multiple parent and child outcomes, within-person changes in diet quality throughout these periods have not been extensively examined.

Objectives: This study investigated diet quality from early pregnancy through 1 y postpartum and examined differences by sociodemographic characteristics in participants receiving obstetric care in Chapel Hill, North Carolina, United States.

Methods: Participants completed 24-h dietary recalls at 6 study visits (each pregnancy trimester and 6 wk, 6 mo, and 1 y postpartum) (n = 383).

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Publisher Correction: Integrin signalling in joint development, homeostasis and osteoarthritis.

Nat Rev Rheumatol

December 2024

Division of Rheumatology, Allergy, and Immunology and the Thurston Arthritis Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study.

Clin Imaging

November 2024

National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA. Electronic address:

Purpose: To characterize brain MR imaging findings in a cohort of 58 patients with ECD and to evaluate relationship between these findings and the BRAF pathogenic variant.

Methods: ECD patients of any gender and ethnicity, aged 2-80 years, with biopsy-confirmed ECD were eligible to enroll in this study. Two radiologists experienced in evaluating ECD CNS disease activity reviewed MRI studies.

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Human papillomavirus disease in deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.

Front Immunol

September 2024

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

Article Synopsis
  • - Patients with GATA2 haploinsufficiency face higher risks for HPV-related anogenital cancers, with the study showing that HPV appeared at a median age of 18.9 in females and 25.6 in males, often leading to significant health issues.
  • - The research conducted a thorough review of 68 patients over 17 years, revealing that 76% had HPV-related squamous intraepithelial lesions (SIL), with females showing a higher prevalence and severity of high-grade lesions compared to males.
  • - Among patients receiving hematopoietic stem cell transplants for GATA2-linked diseases, some still experienced persistent HPV issues post-treatment; however, those who received vaccinations afterward showed minimal evidence
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Article Synopsis
  • Alcohol and nicotine interact with the nicotinic acetylcholine receptor system, influencing reward responses and leading to increased co-use and misuse of these substances.
  • A specific genetic variation (rs16969968) in the CHRNA5 gene is strongly linked to nicotine effects, but its role in alcohol consumption is less understood.
  • In a study with 980 participants, smokers reported higher alcohol use, and those with the GG genotype consumed more alcohol than those with the AA/AG genotypes, suggesting that this genetic variant may partly protect against alcohol misuse by influencing negative expectations about drinking.
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Persistent Autonomic and Immunologic Abnormalities in Neurologic Post-Acute Sequelae of SARS-CoV2 Infection.

Neurology

September 2024

From the Autonomic Medicine Section (D.S.G., P.S., J.G., R.I., S.M.), and Infections of the Nervous System Section (Y.M., A.W., B.S.) Clinical Neurosciences Program (CNP), Division of Intramural Research (DIR), National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD; Sackler Faculty of Medicine (Y.M.), Tel Aviv University, Israel; Office of the Clinical Director (B.W., A.N.), and Viral Immunology Section (Y.E.-A., S.J.), DIR, NINDS; and Echocardiography Laboratory (M.-L.N., S.S.), DIR, National Heart, Lung, and Blood Institute, Bethesda, MD.

Objectives: After acute coronavirus disease-2019 (COVID-19), people often experience fatigue, "brain fog," or other central neurologic symptoms (neuro-post-acute SARS-CoV2, or "Neuro-PASC"). In this observational study we evaluated whether abnormalities noted on initial evaluation persist after at least another year.

Methods: Neuro-PASC research participants who had undergone comprehensive inpatient testing at the NIH Clinical Center returned after at least 1 year for follow-up assessments including symptoms rating scales, MRI, lumbar puncture for tests of the CSF, physiologic recordings during the Valsalva maneuver and head-up tilting (with serial plasma catechols and cardiac Doppler ultrasound during the tilting), blood volume measurement, skin biopsies to examine sympathetic innervation, and blood sampling for neuroendocrine and immunologic measures.

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Harnessing mega-analysis in the era of "big data" neuroimaging.

Neuropsychopharmacology

November 2024

Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

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Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.

Mol Genet Metab

October 2024

Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States. Electronic address:

Alkaptonuria is a rare disorder of tyrosine catabolism caused by deficiency of homogentisate 1,2-dioxygenase that leads to accumulation of homogentisic acid (HGA). Deposition of HGA-derived polymers in connective tissue causes progressive arthropathy of the spine and large joints, cardiac valvular disease, and genitourinary stones beginning in the fourth decade of life. Nitisinone, a potent inhibitor of the upstream enzyme, 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces HGA production.

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