Results 51 to 60 of about 378,748 (310)

A case report of rare, giant adrenal myelolipoma

Journal of Medical Sciences, 2021
Giant adrenal myelolipoma is a rare entity. It becomes evident due to symptoms of dragging sensation and discomfort or pain. We report hereby a rare case report giant adrenal myelolipoma.
Puneet Kumar, Katyayani Kumari Choubey, Ajay K Khanna, Satyendra K Tiwary   +3 more
doaj   +1 more source

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia [PDF]

, 2007
Objective Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from recessive mutations in the ACTH receptor (MC2R, MC2R).
Hindmarsh, PC, Dattani, MT, Achermann, JC, Metherell, LA, Al-Ali, M, Brain, CE, Alzyoud, M, Clark, AJ, Lin, L, Clark, AJL   +9 more
core   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Aldosterone-Regulating Receptors and Aldosterone-Driver Somatic Mutations

Frontiers in Endocrinology, 2021
BackgroundSomatic gene mutations that facilitate inappropriate intracellular calcium entrance have been identified in most aldosterone-producing adenomas (APAs).
Jung Soo Lim, Jung Soo Lim, Samuel W. Plaska, Juilee Rege, William E. Rainey, William E. Rainey, Adina F. Turcu   +6 more
doaj   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core  

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]

, 2003
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P, J. L. Jameson, A. Spada, Spada, A, G. Mantovani, Weiss, J, P. Beck-Peccoz, Ozisik, G, L. Persani, Achermann, JC, Mantovani, G, J. C. Achermann, J. Weiss, Persani, L, Jameson, JL, G. Ozisik   +15 more
core   +1 more source

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, EarlyView.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

In vivo and in vitro spermatogenesis in prepubertal mouse testes exposed to low gonadotoxic doses of cytarabine or Daunorubicin

Scientific Reports
The development of experimental models treated by chemotherapy is needed for elucidating the side effects of cancer treatments administered prior to puberty on male gonad function and the feasibility of restoring fertility from exposed testicular tissues.
Marion Delessard, Laura Moutard, Coline Charnay, Nathalie Rives, Ludovic Dumont, Magali Basille-Dugay, Aurélie Feraille, Christine Rondanino   +7 more
doaj   +1 more source

Nontraumatic adrenal hemorrhage: the adrenal stress

Radiology Case Reports, 2017
Bilateral adrenal hemorrhage is a rare condition, which is burdened by potentially life-threatening consequences related to the development of acute adrenal insufficiency. Despite treatment with stress-dose glucocorticoids, a mortality rate of 15% has been reported, which varies according to the severity of underlying predisposing illness and could be ...
Marco Di Serafino, Rosa Severino, Valeria Coppola, Matilde Gioioso, Rosario Rocca, Francesco Lisanti, Enrico Scarano   +6 more
openaire   +3 more sources