Results 101 to 110 of about 3,553,850 (264)

PROP1 gene mutations in a 36-year-old female presenting with psychosis

Endocrinology, Diabetes & Metabolism Case Reports, 2017
Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells.
Durgesh Prasad Chaudhary, Tshristi Rijal, Kunal Kishor Jha, Harpreet Saluja   +3 more
doaj   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies

Frontiers in Immunology, 2019
Background: Primary antibody deficiencies (PADs) and anterior pituitary dysfunction are both rare conditions. However, recent studies have remarkably reported the occurrence of anterior pituitary dysfunction in PAD patients.Methods: In this cross ...
Eva C. Coopmans, Eva C. Coopmans, Paweena Chunharojrith, Paweena Chunharojrith, Paweena Chunharojrith, Sebastian J. C. M. M. Neggers, Marianne W. van der Ent, Marianne W. van der Ent, Sigrid M. A. Swagemakers, Sigrid M. A. Swagemakers, Iris H. Hollink, Barbara H. Barendregt, Barbara H. Barendregt, Peter J. van der Spek, Peter J. van der Spek, Aart-Jan van der Lely, P. Martin van Hagen, P. Martin van Hagen, P. Martin van Hagen, Virgil A. S. H. Dalm, Virgil A. S. H. Dalm, Virgil A. S. H. Dalm   +21 more
doaj   +1 more source

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

JCRPE, 2020
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe.
Ziqin Liu, Xiaobo Chen
doaj   +1 more source

Prevalence of insulin dysregulation in a sport horse population as determined by traditional and stall‐side testing

Equine Veterinary Journal, EarlyView.
Abstract Background The prevalence of insulin dysregulation (ID) has not been investigated in sport horses. Stall‐side insulin assays offer convenience but need further validation. Objectives To determine the prevalence of and risk factors for ID in a sport horse population using an oral sugar test (OST) and assess agreement between stall‐side and ...
Kimberly L. Hallowell, Caitlyn R. Horne, Cary S. Miller, Sara R. Tufts, Katarzyna Dembek, Kim R. Love, Andrew W. van Eps, Lauren V. Schnabel   +7 more
wiley   +1 more source

Two Cases of Late Diagnosis Pituitary Stalk Interruption Syndrome and Literature Review

International Medical Case Reports Journal
Malak Alkhalifa,1 Zaenb Alsalman,2 Abdulmohsen Al Elq,3 Zahra Al-khadrawi,4 Huda Radwan4 1Diabetes and Endocrinology Center, Dammam Medical Complex, Ministry of Health, Dammam, Saudi Arabia; 2Department of Family and Community Medicine, College of ...
Alkhalifa M, Alsalman Z, Al Elq A, Al-khadrawi Z, Radwan H   +4 more
doaj  

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomesResearch in context

EBioMedicine, 2018
Background: Pituitary development and GH secretion are orchestrated by multiple genes including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3.
Werner F. Blum, Jürgen Klammt, Serge Amselem, Heike M. Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Jr, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfäffle   +16 more
doaj   +1 more source

The influence of a systemic non‐steroidal anti‐inflammatory drug on growth factors and cytokines in equine plasma, solid platelet‐rich fibrin (PRF), and liquid PRF

Equine Veterinary Journal, EarlyView.
Abstract Background Platelet‐rich fibrin (PRF) is a second‐generation platelet concentrate that contains growth factors and cytokines within a fibrin matrix, allowing prolonged release and supporting its use as a regenerative therapy for corneal wound healing.
Katrina E. V. Jones, Kimberly Young, Erin Barr, Chongben Zhang, Cody McGrath, Kimberly R. Love, Brian Gilger, Michala de Linde Henriksen   +7 more
wiley   +1 more source

Sex-Specific Cardiovascular Risks and Mortality in Patients with Panhypopituitarism: A Nationwide Cohort Study [PDF]

Endocrinology and Metabolism
Background Panhypopituitarism is a condition of combined deficiency of multiple pituitary hormones, which requires lifelong hormone replacement therapy. Hormone deficiency or inadequate hormone replacement may contribute to cardiovascular disease.
Seung Shin Park, Hyunmook Jeong, Chang Ho Ahn, Min Jeong Park, Yong Hwy Kim, Kwangsoo Kim, Jung Hee Kim   +6 more
doaj   +1 more source