Results 71 to 80 of about 79,193 (253)

Antenatal exposure to second hand smoke of non-smoking mothers and growth rate of their infants.

open access: yesPLoS ONE, 2019
ObjectivesThere is limited evidence on the effect of exposure to second hand smoke (SHS) in non-smoking pregnant mothers and infant health. We assessed the effects of maternal antenatal exposure to SHS on infant growth rate, and secondarily, on birth ...
Frida Soesanti   +5 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda   +5 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Hubungan status besi dan ioidum ibu hamil trimester III terhadap berat badan dan lingkar kepala bayi lahir didaerah endemik GAKI

open access: yesJurnal Gizi Indonesia: The Indonesian Journal of Nutrition, 2016
Background: Iodine and iron were micronutrient that highly related with formation of thyroid hormone. Iodine and iron deficiency during pregnancy, will affect fetal development.
Sherly Novitasari   +4 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Serum Zinc Level at Term Pregnancy and Newborn Anthropometry

open access: yesIndonesian Journal of Obstetrics and Gynecology, 2015
Objective: To determine the relationship between serum zinc level at term pregnancy and newborn anthropometry. Methods: This study is an observational study with cross-sectional design.
Irma Seriana   +2 more
doaj   +1 more source

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu   +6 more
wiley   +1 more source

Head Circumference and IQ in Duchenne MD

open access: yesPediatric Neurology Briefs, 1991
The head circumferences of 64 patients with Duchenne muscular dystrophy were greater than normal and the intellectual performance tested by the Wechsler was significantly impaired in a study performed at The Royal Liverpool Children’s Hospital, Alder Hey,
J Gordon Millichap
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

open access: yesThe Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere   +8 more
wiley   +1 more source

Head circumference in neonates with septal defects

open access: yesCardiology in the Young
Abstract Background: Neurodevelopmental disorders occur in up to 50% of children with CHD. Small head circumference at birth has been associated with impaired neurodevelopment in patients with complex CHD.
Line Høffner   +12 more
openaire   +2 more sources

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