Results 161 to 170 of about 4,177,676 (283)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Practical considerations for optimal designs in clinical dose finding studies [PDF]

Determining an adequate dose level for a drug and, more broadly, characterizing its dose response relationship, are key objectives in the clinical development of any medicinal drug. If the dose is set too high, safety and tolerability problems are likely
Dette, Holger, Pinheiro, José, Bretz, Frank   +2 more
core  

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Survey of Local and Systemic Corticosteroids Use in Adults with Chronic Rhinosinusitis with Nasal Polyps in Chile. [PDF]

J Inflamm Res
Navarro-Aguilar D, Valdés CJ, Seguí G, Daszenies C, Niklitschek E, Oberreuter G, León AS, Rojas-Lechuga MJ, Moreno-Luna R, Stivalini D, Gambacorta V, De Corso E.   +11 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Secretagogue laxatives as a potential strategy to overcome adherence barriers to over-the-counter treatment for clozapine-induced constipation. [PDF]

Ment Health Clin
Leung JG, Markota M, Wang XJ.
europepmc   +1 more source

How Are Australian Local Governments Responding to the Homelessness Crisis? Findings From a National Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian local governments are facing intensifying pressures to respond to worsening visible homelessness. This paper presents one of the first national studies on how local governments are responding to these pressures, and the first since the onset of the post‐pandemic housing crisis.
Andrew Clarke, Joelle Moore, Fatemeh Aminpour, Katya Eagles   +3 more
wiley   +1 more source

Utility of clozapine trough level reporting in clinical practice: A four-year retrospective evaluation from India. [PDF]

Indian J Psychiatry
Patil AN, Khatri P, Sharma S, Pattanaik S, Chakrabarti S, Charan YD, Singh N, Kashyap A, Grover S.   +8 more
europepmc   +1 more source

Biologics Adoption in CRSwNP and the Associated Decline in Endoscopic Sinus Surgery: A Longitudinal Claims Database Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Biologic treatments were introduced for chronic rhinosinusitis with nasal polyps (CRSwNP) in 2019. Treatment algorithms for medically refractory CRSwNP remain open, with patients choosing among surgery, biologics, or both. Real‐world utilization of surgery and biologics remains incompletely characterized.
Stephanie Shintani Smith, Sam L. Kaefer, Harsh Duvvuru, Robert C. Kern, Brent A. Senior, Vijay R. Ramakrishnan   +5 more
wiley   +1 more source