Results 131 to 140 of about 270,926 (339)

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

Identifying First-Trimester Risk Factors for SGA-LGA Using Weighted Inheritance Voting Ensemble Learning

Bioengineering
The classification of fetuses as Small for Gestational Age (SGA) and Large for Gestational Age (LGA) is a critical aspect of neonatal health assessment.
Sau Nguyen Van, Jinhui Cui, Yanling Wang, Hui Jiang, Feng Sha, Ye Li   +5 more
doaj   +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

EFFECT OF BANKED HUMAN BREAST MILK(BHBM) ON THE POST-NATAL EVOLUTION OF MIDARM CIRCUMFERENCE (MAC), TRICIPITAL (T), AND SUBSCAPULAR(S) SKINFOLD (SKF)THICKNESS, ARM MUSCLE(AMA) AND FAT AREAS (AFA) IN APPROPRIATE(AGA) AND SMALL FOR GESTATIONAL AGE(SGA) VERY LOW BIRTH-WEIGHT INFANTS (VLBW) [PDF]

, 1984
Jean‐Louis Excler, L Sann, Y Lasne, J Picard   +3 more
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

Maternal age-specific risks for adverse birth weights according to gestational weight gain: a prospective cohort in Chinese women older than 30

BMC Pregnancy and Childbirth
Background It is unclear whether the effects of abnormal gestational weight gain (GWG) on birth outcomes are differently in women with different maternal ages.
Yidi Wang, Yunhui Gong, Yujie Xu, Xiaoyu Wang, Shufang Shan, Guo Cheng, Ben Zhang   +6 more
doaj   +1 more source

189 HEAVY METALS (Pb.Cd.Ni) CONCENTRATION IN THE HAIR OF MOTHERS OF PRETERM AND SMALL FOR GESTATIONAL AGE (SGA) INFANTS [PDF]

, 1994
Jacek J Pietrzyk, Anna Nowak, Zofia Mitkowska, Maciej Petko, Zofia Zachwiejowa, Joanna Chiopicka, Mirosiaw Kroniak, Antonina Gliska, T Strzelecki, Piotr Dobosz, Wanda Wrzosek   +10 more
openalex   +1 more source

Punctate White Matter Abnormality in Moderate‐to‐Late Preterm Infants

Annals of Neurology, EarlyView.
Objective Moderate‐to‐late preterm (MLP) infants contribute to the greatest proportion of preterm children with neurodevelopmental impairments. White matter injury (WMI) is common and predicts adverse outcomes in very preterm (VP) infants. However, little is known about white matter abnormality (WMA) in MLP infants.
Eleanor Kennedy, Ting Guo, Sian Williams, Thiviya Selvanathan, Jane M. Alsweiler, Frank H. Bloomfield, Malcolm Battin, David Dubowitz, Steven P. Miller, Catherine Morgan, David Perry, Ngaire Susan Stott, Jane E. Harding, for the MR DIAMOND and MoPED Study Groups   +13 more
wiley   +1 more source

Histochemical indications for a chemically complex signal produced by the cervical gill slit gland of the pygmy sperm whale (Kogia breviceps)

The Anatomical Record, EarlyView.
Abstract The pygmy sperm whale (Kogia breviceps) possesses an exocrine gland associated with its false gill slit pigmentation pattern. The cervical gill slit gland is a compound tubuloalveolar gland that produces a holocrine secretion and displays maturational changes in size and secretory histology. While the morphology of the cervical gill slit gland
Tiffany F. Keenan, William A. McLellan, Sentiel A. Rommel, Alexander M. Costidis, Craig A. Harms, J. G. M. Thewissen, Susan J. Rehorek, David S. Rotstein, Mark D. Gay, Alison R. Taylor, Heather N. Koopman, Ying Wang, Stephanie Kamel, D. Ann Pabst   +13 more
wiley   +1 more source

THE EFFECTS OF INSULIN-LIKE GROWTH FACTOR-I (IGF-I) UPON THE POSTNATAL GROWTH AND MUSCLE GLUCOSE TRANSPORTERS (GLUT) IN THE SMALL FOR GESTATIONAL AGE (SGA) RAT. • 1850 [PDF]

, 1996
Claudia Hart, Annette S. Flozak, Edward S. Ogata, Rebecca A. Simmons   +3 more
openalex   +1 more source