Results 61 to 70 of about 1,468 (202)

POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation

Annals of Clinical and Translational Neurology, Volume 11, Issue 6, Page 1636-1642, June 2024.
Abstract While biallelic POLR3A loss‐of‐function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent‐onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A‐related disorder with c.1909+22 variant.
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P. Verma, Rick Stell, Mark Davis, Phillipa Lamont   +9 more
wiley   +1 more source

Kallmann Syndrome and Depression: A Case Report

Kerala Journal of Psychiatry
Kallmann syndrome is a genetic condition that causes low testosterone levels and anosmia. It can also be linked to mood disorders such as depression. This case report describes an 18-year-old male with Kallmann syndrome who experienced low mood, fatigue,
Tanvi Mittal, Nishanth JH
doaj   +1 more source

Moebius syndrome in association with hypogonadotrophic hypogonadism and focal motor demyelinating peripheral neuropathy with persistent conduction blocks [PDF]

, 2023
Antonio Cerasa, Antonio Cerasas
openalex   +1 more source

Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors – A systematic review

Clinical and Translational Science, Volume 17, Issue 6, June 2024.
Abstract For the same age, sex, and dosage, there can be significant variation in fertility outcomes in childhood cancer survivors. Genetics may explain this variation. This study aims to: (i) review the genetic contributions to infertility, (ii) search for pharmacogenomic studies looking at interactions of cancer treatment, genetic predisposition and ...
Tayla Stenta, Michael Assis, Katie Ayers, Elena J. Tucker, Andreas Halman, Debra Gook, Andrew H. Sinclair, David A. Elliott, Yasmin Jayasinghe, Rachel Conyers   +9 more
wiley   +1 more source

The olfactory bulb: A neuroendocrine spotlight on feeding and metabolism

Journal of Neuroendocrinology, Volume 36, Issue 6, June 2024.
Abstract Olfaction is the most ancient sense and is needed for food‐seeking, danger protection, mating and survival. It is often the first sensory modality to perceive changes in the external environment, before sight, taste or sound. Odour molecules activate olfactory sensory neurons that reside on the olfactory epithelium in the nasal cavity, which ...
Romana Stark
wiley   +1 more source

Kisspeptin a potential therapeutic target in treatment of both metabolic and reproductive dysfunction

Journal of Diabetes, Volume 16, Issue 4, April 2024.
Highlights Kisspeptins (KPs) were first discovered to have antimetastatic action. Historically, a role in reproduction was demonstrated. Today, there is growing experimental and clinical evidence that KPs and their receptors regulate metabolism. Disruption of KP and receptor interaction provides an interesting approach to treating metabolic conditions,
Joanna Helena Sliwowska, Nicola Elizabeth Woods, Abdullah Rzgallah Alzahrani, Elpiniki Paspali, Rothwelle Joseph Tate, Valerie Anne Ferro   +5 more
wiley   +1 more source

A case of pituitary abscess presenting without a source of infection or prior pituitary pathology

Endocrinology, Diabetes & Metabolism Case Reports, 2016
Pituitary abscess is a relatively uncommon cause of pituitary hormone deficiencies and/or a suprasellar mass. Risk factors for pituitary abscess include prior surgery, irradiation and/or pathology of the suprasellar region as well as underlying ...
Derick Adams, Philip A Kern
doaj   +1 more source

Meta‐analysis and construction of simple‐to‐use nomograms for approximating testosterone levels gained from weight loss in obese men

Andrology, Volume 12, Issue 2, Page 297-315, February 2024.
Abstract Background Obesity‐induced hypogonadism, which manifests as erectile dysfunction and a lack of libido, is a less visible and under‐recognized obesity‐related disorder in men. Objective We examined the impact of weight loss on total (TT) and free testosterone (FT) levels, and constructed nomograms to provide an easy‐to‐use visual aid for ...
Gie Ken‐Dror, David Fluck, Christopher Henry Fry, Thang Sieu Han   +3 more
wiley   +1 more source

A RARE ENDOCRINE CASE REPORT OF KALLMANN SYNDROME

Journal of University Medical & Dental College, 2017
: Kallmann syndrome is a rare disorder of secondary hypogonadism with or without anosmia/ hyposmia due to abnormal migration of gonadotrophin releasing hormone producing neurons in hypothalamus.
Nasir Mahmood
doaj  

Type 2 Diabetes and Testosterone Therapy

The World Journal of Men's Health, 2019
A third of men with type 2 diabetes (T2DM) have hypogonadotrophic hypogonadism (HH) and associated increased risk of cardiovascular and all-cause mortality. Men with HH are at increased risk of developing incident T2DM.
Geoffrey Hackett
doaj   +1 more source