Results 61 to 70 of about 12,612 (220)

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

open access: yesgenesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu   +10 more
wiley   +1 more source

Congenital Neurologic Malformations

open access: yesPediatric Neurology Briefs, 1990
A 17-year survey of major congenital neurologic malformations among infants born in U.S. Army Hospitals worldwide from January 1, 1971 through December 31, 1987 is presented from the Neonatology Services, Walter Reed Army Medical Center, Washington, DC ...
J Gordon Millichap
doaj   +1 more source

Reflections on Consciousness in Intensive Care

open access: yesActa Paediatrica, Volume 115, Issue 2, Page 275-284, February 2026.
ABSTRACT Evaluating consciousness in intensive care is pivotal to relieving suffering with analgesic or sedative drugs and in prognosis and diagnoses. The usual clinical perspective is to equate consciousness with responsiveness, assuming functional motor responses and sympathetic activity of the patient. Clinical diagnoses of coma may be wrong in more
Michael Broomé, Tiit Mathiesen
wiley   +1 more source

The Language Used Around Diabetes: A Qualitative Study Focusing on the Experience of People Living With Type 1 and Type 2 Diabetes in Ireland

open access: yesHealth Expectations, Volume 29, Issue 1, February 2026.
ABSTRACT Context The majority of people living with diabetes experience stigma; this is often conveyed through language. There is a growing international focus on the language used around diabetes, but the experience of the same has not been investigated in an Irish context.
Ellie Patterson   +6 more
wiley   +1 more source

Iniencephaly: A rare anomaly

open access: yesNational Journal of Clinical Anatomy, 2019
Following case report is an attempt to ascertain that the fetus obtained and evaluated presents with iniencephaly, which is one of the rare variants of neural tube defects. Most of the cases of iniencephaly are reported as isolated incidences.
Shantanu B Chavan
doaj   +1 more source

The Impact of Chlamydia Treatment During Pregnancy on Birth Defects in New York State

open access: yesBirth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Background Chlamydia trachomatis (CT) diagnoses are highest among females of reproductive age. Yet, little is known about adverse infant outcomes associated with treatment for CT infections during pregnancy, including birth defects. Methods Using de‐identified matched data from the New York State (NYS) Sexually Transmitted Infection ...
Elizabeth M. Boos   +6 more
wiley   +1 more source

Ameliorative Effect of Beetroot Against Folic Acid Deficiency: A Review

open access: yesFood Science &Nutrition, Volume 14, Issue 1, January 2026.
Beets, as well as folic acid supplements, provide a possible nutritional intervention for nutritional insufficiency, and this is especially true in functional foods. Offering a holistic explanation of beetroot's medicinal properties, this paper explores the means by which its bioactive constituents can counteract the adverse effects of folic acid ...
Amara Rasheed   +7 more
wiley   +1 more source

Combining Detailed Fetal Anatomy Scanning in the NT Window Versus Early Second Trimester Scanning at 14–16 Weeks

open access: yesJournal of Ultrasound in Medicine, Volume 45, Issue 1, Page 105-113, January 2026.
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz   +6 more
wiley   +1 more source

Maternal and neonatal serum magnesium concentrations in neural tube defects pregnancies in Gorgan (North of Iran) - A case control study [PDF]

open access: yes, 2010
Objective: Neural tube defects (NTD) comprise a group of congenital malformations that include spinabifida, anencephaly and encephalocele. Previous studies have reported the embryotoxic and teratogenic effects of Magnesium deficiency in animal models ...
Golalipour, M.J., Mansourian, A.R.
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