Results 91 to 100 of about 1,354,756 (358)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Clinical course, radiological findings and late outcome in preterm infant with suspected vertical transmission born to a mother with severe COVID-19 pneumonia: a case report

Journal of Medical Case Reports, 2021
Background Vertical transmission of coronavirus disease 2019 (COVID-19) from mother to newborn infant is doubtful, and very little is known about disease severity and neonatal outcome.
Roya Farhadi, Shahrokh Mehrpisheh, Vajiheh Ghaffari, Mohammadreza Haghshenas, Aghdas Ebadi   +4 more
doaj   +1 more source

Improving Communication between Doctors and Parents after Newborn Screening [PDF]

, 2011
Background: Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications.
Christopher, Stephanie, Collins, Jenelle, Eskra, Kerry, Farrell, Michael, Farrell, Philip M., Hoffman, Gary, Kennedy-Parker, Karen, La Pean, Alison, Panepinto, Julie, Tluczek, Audrey   +9 more
core   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Brain abscess by citrobacter diversus in infancy: case report [PDF]

Arquivos de Neuro-Psiquiatria, 2000
Citrobacter diversus is closely related to brain abscess in newborn infants. We describe a case of brain abscess by this bacteria in a newborn infant and his clinical and cranial computed tomographic evaluation until the fourth month of life and discuss ...
RUBENS FEFERBAUM, EDNA M. A. DINIZ, MARCELO VALENTE, CLÁUDIA R. GIOLO, RENATA A. VIEIRA, ANA L. S. GALVANI, MARIA E. J. CECCON, MARIA C. K. ARAUJO, VERA L. J. KREBS, FLÁVIO A. C. VAZ   +9 more
doaj   +1 more source

Performance of a Nonelectric Infant Warmer in Rwandan Health Centers. [PDF]

, 2019
Background. Neonatal hypothermia remains a challenge in resource-limited settings. Methods. We conducted a prospective mixed-methods cohort study in rural Rwandan health centers to assess the performance of an infant warmer we designed for low-resource ...
Feldman, Henry A, Gadgil, Ashok, Hansen, Anne, Kateera, Fredrick, Kubwimana, Marthe, May, Leana, Nahimana, Evrard, Nshimyiryo, Alphonse, Nyishime, Merab, Schoen, Natalie   +9 more
core  

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Prospective association of maternal psychosocial stress in pregnancy with newborn hippocampal volume and implications for infant social-emotional development

Neurobiology of Stress, 2021
Maternal psychosocial stress during pregnancy can impact the developing fetal brain and influence offspring mental health. In this context, animal studies have identified the hippocampus and amygdala as key brain regions of interest, however, evidence in
Nora K. Moog, Saara Nolvi, Theresa S. Kleih, Martin Styner, John H. Gilmore, Jerod M. Rasmussen, Christine M. Heim, Sonja Entringer, Pathik D. Wadhwa, Claudia Buss   +9 more
doaj  

The genomics of neonatal abstinence syndrome [PDF]

, 2017
Significant variability has been observed in the development and severity of neonatal abstinence syndrome (NAS) among neonates exposed to prenatal opioids.
Cole, F. Sessions, Davis, Jonathan M, Wegner, Daniel J   +2 more
core   +3 more sources