Results 51 to 60 of about 1,134,675 (131)

Alternative Splicing and CaV‐Associated Channelopathies

open access: yesWIREs RNA, Volume 16, Issue 3, May/June 2025.
Voltage‐gated calcium channels control vital cellular processes through complex alternative splicing mechanisms, and their dysfunction contributes to neurological, cardiac, endocrine, oncogenic, and muscular disorders. Recent discoveries of splicing‐related channelopathies have opened promising therapeutic pathways that target specific exons ...
Willy Munyao   +7 more
wiley   +1 more source

Giant Aortic Arch Aneurysm and Cardio-vocal Syndrome: Still An Open-surgery Indication

open access: yes, 2011
The Cardio-vocal Syndrome (Ortner's syndrome) is described as hoarseness due to the left recurrent laryngeal nerve palsy, caused by a specific cardiovascular pathology.
Verdugo López, Samuel   +5 more
core   +1 more source

A Rare Cardiac Cause of Hoarseness of Voice

open access: yesLibyan Journal of Medicine, 2010
To The Editor: Hoarseness of voice caused by the damage of the recurrent laryngeal nerve as a result of cardiac causes is known as Ortner’s or cardio-vocal syndrome.
Berekat I, Azzu A
doaj  

Acute hoarseness in severe heart failure: Ortner's Syndrome [PDF]

open access: yesHalo 194
Introduction: All cardiac conditions that cause the left or right hemilarynx palsy can be defined as Ortner's syndrome. Case Presentation: A 57-year-old man was urgently admitted to the Cardiology Department for laboured breathing and a clinical ...
Gavrić Jelena   +3 more
doaj   +1 more source

Revisiting “Grandmothers and the Evolution of Human Longevity” 2003 AJHB https://doi.org/10.1002/ajhb.10156

open access: yesAmerican Journal of Human Biology, Volume 37, Issue 4, April 2025.
ABSTRACT Compared to our closest living cousins, the great apes, humans can live longer with a distinctive postmenopausal lifespan; our development is slower, yet our babies are weaned earlier. Continued investigation since 2003 shows our grandmother hypothesis is a robust explanation for those differences and many other distinctive human features ...
Kristen Hawkes
wiley   +1 more source

Preadult Living Conditions During Sociopolitical Transition in Quebrada Chupacigarro Cemetery (500–400 bc), Supe Valley, Peru: Childhood Morbidity and Sociopolitical Change in Prehistoric Central Andes

open access: yesInternational Journal of Osteoarchaeology, Volume 35, Issue 2, March/April 2025.
ABSTRACT Through a detailed assessment of nonspecific stress markers in 67 individuals (47 under 8 years old), this paper investigates the health conditions of preadults in Quebrada Chupacigarro Cemetery (QCC), North‐Central Coast of Peru, during the transition between the Middle and Late Formative periods (500–400 bc), a critical time of ...
Luis Pezo‐Lanfranco   +7 more
wiley   +1 more source

Evidence of Pellagra on 19th Century Human Crania From Northern Italy by Combining Stable Isotope and Paleopathological Analyses

open access: yesInternational Journal of Osteoarchaeology, Volume 35, Issue 2, March/April 2025.
ABSTRACT Pellagra is a disease caused by a nutritional deficiency, with fatal outcome due to multiple‐organ failure, that affected European rural areas until the early decades of the 20th century, especially Veneto region (Italy). At the skeletal level, previous studies pointed out that pathological signs left by the disease are generic and typical of ...
Nicola Carrara   +8 more
wiley   +1 more source

Down syndrome and parity.

open access: yes, 1999
OBJECTIVE: To investigate the effect of parity on Down syndrome (DS). METHODS: The study was conducted on data from Northeast Italy (NEI) (1981-1996) and Sicily (ISMAC) (1991-1996) Congenital Malformation Registries.
Working Group on Down Syndrome   +4 more
core   +1 more source

Understandings of Down's syndrome and their place in the prenatal testing context [PDF]

open access: yes, 2003
INTRODUCTION: There is a growing consensus that decisions about prenatal testing should a) be informed, and b) reflect the individual's attitudes and values.
Bryant, Louise Dorothy
core   +4 more sources

Inactivation induced by pathogenic Cav1.3 L‐type Ca2+‐channel variants enhances sensitivity for dihydropyridine Ca2+ channel blockers

open access: yesBritish Journal of Pharmacology, Volume 182, Issue 1, Page 181-197, January 2025.
Abstract Background and Purpose Pathogenic gain‐of‐function mutations in Cav1.3 L‐type voltage‐gated Ca2+‐channels (CACNA1D) cause neurodevelopmental disorders with or without endocrine symptoms. We aimed to confirm a pathogenic gain‐of function phenotype of CACNA1D de novo missense mutations A749T and L271H, and investigated the molecular mechanism ...
Ferenc Török   +5 more
wiley   +1 more source

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