Results 181 to 190 of about 291,006 (308)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

open access: yesThe Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal   +3 more
wiley   +1 more source

Iodine deficiency in the first pregnancy trimester and intelligence in adolescence. [PDF]

open access: yesEur J Nutr
Keestra SM   +7 more
europepmc   +1 more source

The Association of Pregnancy and Scurvy in Indigenous Women and Their Children From the Late Holocene in California (USA)

open access: yesInternational Journal of Osteoarchaeology, EarlyView.
ABSTRACT Limited evidence of nutritional deficiencies has been identified in bioarchaeological studies of Native California populations, although isotopic and ethnohistoric research provides evidence of regional, seasonal, and cultural variability in food shortages.
Alyson Caine   +3 more
wiley   +1 more source

First-Trimester Bleeding and the Risk of Pregnancy Loss in a Prospective Cohort. [PDF]

open access: yesObstet Gynecol
Sundermann AC   +5 more
europepmc   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij   +11 more
wiley   +1 more source

Association between vaginal washing and group B Streptococcus colonization from periconception through the first trimester of pregnancy in a cohort of Kenyan women. [PDF]

open access: yesPLoS One
Jisuvei CS   +10 more
europepmc   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel   +17 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

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