Results 81 to 90 of about 222,381 (312)

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

Neonatal mortality in developing countries: an analysis of trends and determinants

, 2009
There is limited understanding of how both trends and determinants of neonatal mortality vary from post-neonatal mortality, and more specifically how health care variables are associated with deaths in the first month of life.
Neal, Sarah Elizabeth
core  

Survival of neonates in rural Southern Tanzania: does place of delivery or continuum of care matter? [PDF]

, 2012
\ud The concept of continuum of care has recently been highlighted as a core principle of maternal, newborn and child health initiatives, and as a means to save lives.
Mwanyangala, Mathew Alexander, Nathan Rose, Mathew Alexander Mwanyangala, Mwanyangala Mathew, Rose Nathan, Nathan, Rose   +5 more
core   +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

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

Spatial Analysis of Antenatal Care and Low Birth Weight against Neonatal Mortality Rate in Aceh Province, Indonesia

Iranian Journal of Public Health, 2022
Background: Similar to Indonesia, Aceh Province also showed a slight decline in neonatal mortality rate. However, the rate is still high compared to other provinces.
Nurjannah Nurjannah, Marisa Marisa, Etika Sari   +2 more
doaj  

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

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

Neonatal Survival in Rural Tanzania : Home Deliveries, Neonatal Mortality and Subsequent Help and Health Seeking Behaviour for the Newborn by Mothers in Rural Tanzania [PDF]

, 2010
It is unlikely that the fourth Millennium Development Goal (MDG 4: reduce child mortality) will be attained without considerable decline in neonatal mortality.
Mrisho, Mwifadhi
core  

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source