Results 51 to 60 of about 190,628 (263)

Hypothalamic Control of Liver Health and Disease: From Circuits to Pathophysiology and Therapies

Advanced Science, EarlyView.
This review delineates the hypothalamic circuits that control liver homeostasis via autonomic and neuroendocrine pathways. Dysregulation of this hypothalamus–liver axis drives disease progression across a spectrum including steatotic liver disease, liver inflammation and injury, fibrosis, cirrhosis, and hepatocellular carcinoma.
Qin Tang, Jiahui Li, Haiying Song, Ailin Zhang, Haifeng Zeng, Yining Xu, Li Mo, Jinhan He   +7 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Survey of characteristics of neonatal death in neonatal intensive care unit of Boo-Ali Sina educational & therapeutic center between 2003-2006

Journal of Mazandaran University of Medical Sciences, 2009
, , , (Received 24 June, 2009 ; Accepted 16 September, 2009)AbstractBackground and purpose: The neonatal mortality rate is an important index for evaluation of public health. It involves the death of infants under 28 days.
Azita Bala Ghafari, Hasan Siamian, Kobra Aligolbandi, Seyyede Shahrbanu Rashida   +3 more
doaj  

25(OH)vitamin D inflammatory and oxidative stress markers in healthy Holstein cows and cows with peri-partum diseases during the transition period

Scientific Reports
In dairy cows, the immune system is suppressed around calving, predisposing them to infectious diseases. This study investigated vitamin D levels and various immunological and oxidative stress markers in cows suffering from peri-parturient diseases ...
Saba Ahmadi Sheikhsarmast, Ali Afshar Bahrabad, Nima Farzaneh, Mehrdad Mohri   +3 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Study on fungal contaminants in aborted calves of cattle herds in Iran

Veterinary Medicine and Science
Background/Objective Abortions in livestock herds are a major contributor to economic losses. The incidence of fungal aetiology has been reported thus far.
Samaneh Eidi, Hesam A. Seifi, Soheil Sadr, Hamideh Zeinali   +3 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Mortalidade infantil em município do interior do estado de São Paulo Mortalidad infantil en el municipio del interior del estado de São Paulo Infanty mortality in a county of the hinterland of São Paulo state

Revista da Escola de Enfermagem da USP, 2002
Considerando que a mortalidade infantil é indicador dos níveis de saúde da população, realizamos este trabalho, cujo objetivo foi identificar as causas de mortalidade infantil no ano de 1998 em Botucatu.
Kátia Poles, Cristina Maria Garcia de Lima Parada   +1 more
doaj   +1 more source