Results 91 to 100 of about 12,315,142 (298)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Re-examining the Effects of Medicaid Expansions for Pregnant Women [PDF]

This paper analyzes the effect of Medicaid eligibility expansions on the health insurance coverage of women giving birth and on the use of prenatal care and infant health, controlling for year and state effects and state-specific trends that may be ...
Kosali I. Simon, Dhaval M. Dave, Sandra Decker, Robert Kaestner   +3 more
core  

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Medicaid Managed Care and Infant Health: A National Evaluation [PDF]

In this study, we examine the effects of Medicaid managed care (MMC) on prenatal care utilization and infant health. We obtain separate estimates of the effect of primary care case management (PCCM) managed care programs and HMO managed care plans on ...
Lisa Dubay, Genevieve Kenney, Robert Kaestner   +2 more
core  

Neonatal bartter syndrome in an extremely low birth weight baby

, 2017
Early diagnosis of Bartter syndrome (BS) in the neonatal period is a clinical challenge, more so in an extremely low birth weight (ELBW) baby because of the inherent renal immaturity and the associated difficulty in fluid management.
Jayashree Mondkar, Deeparaj Hegde, Nitinkumar Abdagire   +2 more
core   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Refined nursing care of a periviable extremely preterm infant with birth weight 360 g: a case report

Huli yanjiu
This paper summarized the individualized nursing interventions for a periviable extremely preterm infant with gestational age of 22+3 weeks and birth weight of 360 g.Multidisciplinary consultation was conducted antenatally,and fetal protection treatment ...
ZHANG Juan, WANG Huiyan, CAO Aifen, HUANG Yingsui, WENG Lingling, XIONG Xiaoyun   +5 more
doaj  

Surgical resection of symptomatic pneumatoceles in a <600 gm premature infant

Journal of Pediatric Surgery Case Reports, 2018
Persistent interstitial pulmonary emphysema (PIPE) is rare and usually related to mechanical ventilation-induced lung damage in premature infants with respiratory distress syndrome (RDS).
Atsushi Harada, Shuichi Ashizuka, Sayuri Kaji, Daisuke Kanamori, Jyoji Yoshizawa, Takao Ohki   +5 more
doaj   +1 more source

Air Pollution and Infant Health: What Can We Learn From California's Recent Experience [PDF]

We examine the impact of air pollution on infant death in California over the 1990s. Our work offers several innovations: First, many previous studies examine populations subject to far greater levels of pollution.
Janet Currie, Matthew Neidell
core  

Successful caspofungin treatment of multidrug resistant Candida parapsilosis septicaemia in an extremely low birth weight neonate

, 2006
Candida septicaemia with multidrug resistance is an uncommon event in preterm neonates. We present an extremely low birth weight infant (gestational age of 27 weeks, birth weight of 980 g) who developed congenital Candida parapsilosis septicaemia ...
Nilgun Kultursay, Mehmet Yalaz, Yalaz, M, Kultursay, N, Akisu, M, Calkavur, S, Cakmak, B, Suleyha Hilmioglu, Hilmioglu, S, Bilin Cakmak, Sebnem Calkavur, Mete Akisu   +11 more
core   +1 more source