Results 161 to 170 of about 8,630,051 (376)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

A Comparative Study of Renal Size in Newborn Babies

Gomal Journal of Medical Sciences, 2004
Background: In neonatal period usual presentation of renal anomalies is an increase or decrease in renal size. This study was conducted to assess renal size of normal newborn babies and to determine the best parameter against which kidney size should be ...
Aamir Daud, Ashraf Achakzai, Habib ur Rehman, Mushtaq Ahmed Jaffar, Muhammad Ahmed, Jamil Ahmed, MA Arif   +6 more
doaj  

EFFECT OF GESTATIONAL AGE ON THE UTILIZATION OF INTRAVENOUS AMINO ACIDS IN THE FIRST WEEK OF LIFE [PDF]

, 1974
M. H. Bryan, G. Harvey Anderson, Rabindra Roy, Kursheed N. Jeejeebhoy, Paul R. Swyer   +4 more
openalex   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Trends in Amplitude-Integrated Electroencephalography in the Smallest Preterm Neonates

Children
Background. Amplitude-integrated electroencephalography is increasingly used for the neuromonitoring of premature infants. However, it is still not clear how bioelectrical activity changes in the smallest gestational age newborns.
Kristina Štuikienė, Elke Griesmaier, Ilona Aldakauskienė, Regina Vidmantė, Kastytis Šmigelskas, Rasa Tamelienė   +5 more
doaj   +1 more source

Effects of Age, Body Weight, Stage of Gestation, and Sex on Plasma Glutamic-Oxaloacetic and Glutamic-Pyruvic Transaminase Activities in Immature Holstein Cattle

, 1969
L.R. Boots, W.L. Crist, David Davis, E.W. Brum, T.M. Ludwick   +4 more
openalex   +1 more source

Points from Letters: Gestation Age for Abortion [PDF]

, 1975
C. B. Goodhart
openalex   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Gestational age-related neonatal survival at a tertiary health institution in Nigeria: The age of fetal viability dilemma

Nigerian Journal of Paediatrics
Background: Although the official age of fetal viability in Nigeria is 28 weeks, there are pockets of reports some anecdotal, of survival of babies delivered at younger gestational age (GA) from different parts of the country.
Audu LI , Otuneye AT, Mairami AB, Mukhtar-Yola M, Mshelia LJ , Ekhaguere OA   +5 more
doaj