Results 131 to 140 of about 512,319 (345)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Survey associated maternal‏ ‏Factors with low-weight infants in Women referred ‎to health centers in Rasht

Journal of Holistic Nursing and Midwifery, 2011
Introduction: Low birth weight‏ ‏is‏ ‏considered one of the‏ ‏world's most serious‏ ‏health problems‏ ‏that‏ ‏put tremendous pressure on health care‏ ‏system‏ ‏and‏ ‏family. Maternal&
Arezoo Ghavi, Kolsum Fadakar Sogheh, Maryam Niknami, Ehsan Kazemnejad Leili   +3 more
doaj  

Father Early Engagement Behaviors and Infant Low Birth Weight

Maternal and Child Health Journal, 2018
Shawna J. Lee, D. Sanchez, Andrew C. Grogan-Kaylor, Joyce Y. Lee, Analia F. Albuja   +4 more
semanticscholar   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

The Extremely Low Birth Weight Infant

Apollo Medicine, 2007
Sushma M. Kaul
doaj   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Impact of Stressful Life Events on Infant Birth Outcomes: Do Race/Ethnicity and Hypertension in Pregnancy Matter?

Women's Health Reports
Background: Exposure to stressors impacts maternal and infant health. Growing evidence suggests stressful life events (SLEs) are associated with adverse infant birth outcomes. The objective of this study was to determine how SLEs affected infant outcomes
Forgive Avorgbedor, Thomas P. McCoy, Lori Hubbard, Amita Mittal, Stephanie Pickett   +4 more
doaj   +1 more source

MODELLING CASES OF LOW BIRTH-WEIGHT INFANTS WITH GENERALIZED LINEAR MIXED MODEL [PDF]

, 2015
Low Birth-Weight (LBW) is defined as a birth weight of a live-born infant of less than 2.500 grams regardless of gestational age. The causes of LBW cases can be grouped into two main causes: premature birth and case of small for gestational age (SGA ...
Antonius Benny Setyawan, ., Indahwati, ., Khairil Anwar Notodiputro, .   +2 more
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