Results 51 to 60 of about 55,941 (207)

Management of ketogenic diet therapy in patients with ileostomy: A report of 2 cases

Nutrition in Clinical Practice, EarlyView.
Abstract This case series explores the feasibility and clinical considerations of implementing the ketogenic diet therapy (KDT) for epilepsy management in patients with ileostomies. Two pediatric patients with medication‐resistant epilepsy and ileostomies continued KDT under clinical supervision.
Braden J. Baker, Abigail E. Olbina, Marissa A. Godfrey, Annie E. Graber, Taylor N. Parrish, Sarah Isis R. Delima   +5 more
wiley   +1 more source

Predictive value of the maternal alpha-fetoprotein variant, L2, during the first trimester of pregnancy screening for fetal trisomy 21, trisomy 18, and neural tube defects

BMC Pregnancy and Childbirth
Background To assess the predictive usefulness of maternal serum alpha fetoprotein variant L2 (AFP-L2) for fetal trisomy 21, trisomy 18, and neural tube abnormalities (NTDs) in early pregnancy screening.
Yiming Chen, Wenwen Ning, Caihe Wen, Linyuan Gu, Xuelian Chu   +4 more
doaj   +1 more source

The birth of a child with Down’s syndrome. The impact of the first parent interview

Acta Pediátrica de México, 2014
The birth of a child with congenital malformations or genetic syndromes is a relatively common occurrence: 3 to 4% of live births have some major malformation, important enough to endanger their life or development; this situation is accompanied by high ...
Karla Adney Flores-Arizmendi, Armando Garduño-Espinosa, Rosalía Garza-Elizondo   +2 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Treatment of iliac arteriovenous malformation associated with trisomy 21: a case report

Journal of Cardiothoracic Surgery
Both arteriovenous malformation (AVM) and trisomy 21 are rare diseases. Studies have shown that individuals with trisomy 21 may have potential vascular malformations, with the main site of onset being the portal system.
Jinming Yang, Weichao Zhao, Liping Liang, Guoqing Chi   +3 more
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21

Case Reports in Pediatrics, 2020
Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups: (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which ...
Eric Won, Tanja A. Gruber, Suzanne Tucker, Deborah E. Schiff   +3 more
doaj   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis

Ultrasound International Open, 2019
Objective To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21 using a large second-trimester collective including a low-risk subgroup. Materials and Methods We retrospectively evaluated 1 25 211
Elisabeth Wrede, Alexander Johannes Knippel, Pablo Emilio Verde, Ruediger Hammer, Peter Kozlowski   +4 more
doaj   +1 more source