Results 71 to 80 of about 73,807 (258)

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Diagnostic dilemma of cystic biliary atresia: A series of two cases and brief review of the diagnostic modalities

JPGN Reports, EarlyView.
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan, Leslie Hirsig Spence, Nagraj Kasi   +2 more
wiley   +1 more source

Targeting foreclosure interventions: an analysis of neighborhood characteristics associated with high foreclosure rates in two Minnesota counties [PDF]

This study examines the statistical association of foreclosure sales with social, economic and housing variables measured at the Census tract level for two purposes of interest to foreclosure mitigation practitioners —- to assess whether it is feasible ...
Laura Smith, Michael Grover, Richard M. Todd   +2 more
core  

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

FAKTOR PROGNOSTIK MUNCULNYA PALSI SEREBRAL PADA ANAK DENGAN RIWAYAT KEJANG NEONATAL [PDF]

, 2014
Latar Belakang: Bayi dengan riwayat kejang ada kemungkinan untuk mengalami kerusakan otak. Kerusakan ini biasanya terjadi pada sistem limbik yang terdiri dari hipokampus, hipotalamus, girus cinguli, amygdala dan ganglia basalis serta daerah sekitar ...
Puspita, Ayu Ika, Radityo S, Adhie Nur
core  

Alterations in Metabolites Associated With Umbilical Cord Blood in Monozygotic Twins Discordant for Congenital Heart Disease

Pediatric Discovery, EarlyView.
This study found that the metabolomic signature of umbilical venous cord blood in congenital heart disease (CHD) differs from that of healthy monozygotic (MZ) co‐twins. Dysregulation of metabolic pathways like glucose, lipid, and amino acid metabolism, along with altered metabolites, helps understand CHD predisposition.
Fang Xiang, Xiao Yuan, Yi Yang, Philip N. Baker, Mark D. Kilby, Chao Tong, Xi Yuan   +6 more
wiley   +1 more source

Building capacity in vector‐borne plant virus research: The CONNECTED Network

PLANTS, PEOPLE, PLANET, EarlyView.
Plant viruses spread by insects decimate crop yields globally, causing food security challenges in vulnerable areas, including regions of Africa. Interdisciplinary research is needed to protect future crop supplies. CONNECTED, the Community Network for African Vector‐Borne Plant Viruses, increased research capacity in Central, East, West and Southern ...
Nina F. Ockendon‐Powell, Diane L. Hird, Alice Beck, Heather Child, Helen Thomas‐Hughes, Neil Boonham, Gary D. Foster, Bruce Cronin, Andy M. Bailey   +8 more
wiley   +1 more source

The rate of the prevalence of high-risk pregnancies and the results on pregnant mothers and the effect on parameters after the birth [PDF]

, 2012
Pregnancy causes large physiologic changes in most body systems and these changes may lead to ease or harden examining some events. The purpose of this study is to define the rate of risk in pregnant women and the results in mother and fetus and also to ...
Ameri, M.A., Hassanzad, A., Kashani, E.
core