Results 51 to 60 of about 1,468 (202)

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

Neurorradiologia da síndroma de Kallmann.

Acta Médica Portuguesa, 2001
The present study refers to the magnetic resonance characteristics observed in a group of three patients with clinical and laboratory evidence of Kallmann's Syndrome.
P de m Freitas, S Carvalho, F Ribeiro, D Marnoto, F Martins   +4 more
doaj   +1 more source

Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism

Clinical Endocrinology, Volume 101, Issue 5, Page 409-442, November 2024.
Abstract Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most ...
Channa N. Jayasena, Kerri Devine, Katie Barber, Alexander N. Comninos, Gerard S. Conway, Anna Crown, Melanie C. Davies, Ann Ewart, Leighton J. Seal, Arlene Smyth, Helen E. Turner, Lisa Webber, Richard A. Anderson, Richard Quinton   +13 more
wiley   +1 more source

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia

Epilepsia, Volume 65, Issue 11, Page 3303-3323, November 2024.
Abstract Objective POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non‐coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy.
Joseph D. Symonds, Kristen L. Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Houman Ashrafian, Geneviève Bernard, Kathleen Brown, Andreas Brunklaus, Mary Callaghan, Georg Classen, Julie S. Cohen, Ioana Cutcutache, Jean‐Madeleine de Sainte Agathe, David Dyment, Katherine S. Elliot, Arnaud Isapof, Shelagh Joss, Boris Keren, Michael Marble, Amy McTague, Matthew Osmond, Matthew Page, Marc Planes, Konrad Platzer, Sylvia Redon, James Reese, Margarita Saenz, Constance Smith‐Hicks, Daniel Stobo, Christian Stockhaus, Marie‐Laure Vuillaume, Nicole I. Wolf, Emma L. Wakeling, Grace Yoon, Julian C. Knight, Sameer M. Zuberi   +36 more
wiley   +1 more source

Prenatal and Pregnancy Management of Congenital Adrenal Hyperplasia

Clinical Endocrinology, Volume 101, Issue 4, Page 359-370, October 2024.
ABSTRACT Management of patients with congenital adrenal hyperplasia (CAH) poses challenges during pregnancy and prenatal stages, impacting fertility differently in men and women. Women with CAH experience menstrual irregularities due to androgen and glucocorticoid precursor interference with endometrial development and ovulation.
Hanna Franziska Nowotny, Lea Tschaidse, Matthias K. Auer, Nicole Reisch   +3 more
wiley   +1 more source

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum

Annals of Clinical and Translational Neurology, Volume 11, Issue 8, Page 2088-2099, August 2024.
Abstract Objective Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive disorder resulting from axonal midline crossing defect due to variants in ROBO3. Methods We retrospectively evaluated demographics, clinical phenotype, course of spinal deformities, and neuroimaging findings of six Turkish patients with HGPPS.
Ceren Günbey, Büşranur Çavdarlı, Rahşan Göçmen, Muharrem Yazıcı, Çağrı Mesut Temuçin, Özkan Özdemir, Sebahattin Çırak, Göknur Haliloğlu   +7 more
wiley   +1 more source

Associação singular de síndrome de Kallmann e cisto aracnóide da fossa média: relato de caso Singular association of Kallmann's syndrome and arachnoid cyst of middle fossa: case report

Arquivos de Neuro-Psiquiatria, 1995
O hipogonadismo hipogonadotrófico pode resultar de diferentes anomalias do sistema nervoso central, apresentando sinais clínicos que dependem da idade de aparecimento, bem como do grau de deficiência gonadotrófica e de sua associação com outras ...
Yvens B. Fernandes, Gil Guerra Jr, Sofia H. V. Lemos, Maria T. Matias, Benito P. Damasceno, Osmi Hamamoto, Ary Marconi Jr, Donizetti C. Honorato, José L. C. Marins   +8 more
doaj   +1 more source

HYPOGONADOTROPHIC HYPOGONADISM - A CASE REPORT

Journal of the ASEAN Federation of Endocrine Societies, 2019
INTRODUCTIONHypogonadotrophic hypogonadism (HH) is a rare condition usually affecting the males. The estimated incidence is 1-10:100000 live births. Common presentations are infertility and delayed puberty. CASEWe report a case of HH who has been followed up for the past 17 years since birth.
Qing Yu T, Song Hai L
openaire   +1 more source

Single and multi‐dose pharmacology of recombinant and urinary human chorionic gonadotrophin in men

Clinical Endocrinology, Volume 101, Issue 1, Page 42-50, July 2024.
Abstract Objective Human choriogonadotrophin (hCG) treatment of gonadotrophin‐deficient infertile men uses hCG of urinary (uhCG) or recombinant (rhCG) origin, but these treatments have not been compared nor are there studies defining rhCG dosing in men.
David J. Handelsman, Amanda Idan, Reena Desai, Janelle Grainger, Catrin Goebel, Sue Sleiman, Sasha Savkovic, Dorothy Kouzios, Venna Jayadev, Ann J. Conway   +9 more
wiley   +1 more source

Skull Base Langerhans Cell Histiocytosis with Diabetes Insipidus and Panhypopituitarism- A Rare Clinical Entity

Bengal Journal of Otolaryngology and Head Neck Surgery, 2017
Introduction A case of Langerhans cell histiocytosis (LGH) involving extensive area of base of skull resulting in panhypopituitarism and diabetes insipidus (DI) is reported.
Anirban Ghosh, Mithun Chaudhury, Abhishek Mukherjee   +2 more
doaj   +3 more sources