Results 51 to 60 of about 153,602 (259)
American Journal of Hematology, EarlyView.ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio +19 more
wiley +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
The role of mucosal immunity in the pathogenesis of necrotizing enterocolitis [PDF]
, 2017 Necrotizing enterocolitis (NEC) is the most devastating gastrointestinal disease of prematurity. Although the precise cause is not well understood, the main risk factors thought to contribute to NEC include prematurity, formula feeding, and bacterial ...
Bolock, Alexa M +2 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Relationship Between Household Socio-Economic Status and under-five Mortality in Rufiji DSS, Tanzania. [PDF]
, 2013 Disparities in health outcomes between the poor and the better off are increasingly attracting attention from researchers and policy makers. However, policies aimed at reducing inequity need to be based on evidence of their nature, magnitude, and ...
Cornelius Nattey +8 more
core +3 more sources
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Breastfeeding, Malta 2002 [PDF]
, 2002 Although the scientific and economic benefits in support of breastfeeding over formula feeds is overwhelming, Malta retains one of the lowest rates for breastfeeding in almost all developed and several under-developed countries.
Attard Montalto, Simon
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Food allergies in pregnant women: a study of prevalence in expecting mothers and association with neonatal outcomes [PDF]
, 2013 Thesis (M.A.)--Boston UniversityIntroduction: Food allergies, the second most common form of allergic disorders in Western countries, have been on the rise in the US over the past few decades especially in young children.
Seita, Helene M.
core +1 more source