Results 61 to 70 of about 76,750 (219)
We present two cases of general anesthesia in children with 18, 13 trisomy. One patient had difficulty with intubation and had to be reintubated postoperatively, another developed postoperative acute respiratory distress syndrome.
Hirofumi Hirano +2 more
doaj +1 more source
Pediatric Epiglottopexy: A Scoping Review of Indications, Techniques, Outcomes, and Complications
This scoping review synthesizes the indications, techniques, outcomes, and complications of pediatric epiglottopexy across 24 studies comprising 371 patients from ten countries. Epiglottopexy, most often performed alongside supraglottoplasty, was associated with favorable respiratory and swallowing outcomes, though the evidence base consists ...
Karim Estephan, Mathieu Bergeron
wiley +1 more source
SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton +17 more
wiley +1 more source
Correlation of Pregnancy Associated Plasma Protein A and Zinc with Calculated Risk Ratio of Dual Test [PDF]
Introduction: First trimester screening by dual test is the most preferred method of antenatal screening. The detection rate of foetal aneuploidy using dual test is 95%.
Indranil Ghoshal +3 more
doaj +1 more source
PLACENTAL ABNORMALITIES AND PREECLAMPSIA IN TRISOMY 13 PREGNANCIES [PDF]
[[abstract]]Women who are carrying a trisomy 13 fetus are prone to have an abnormal placenta as well as to develop preeclampsia in the second and third trimesters.
Chih-Ping Chen +2 more
core +1 more source
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 +15 more
wiley +1 more source
Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia
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 +6 more
wiley +1 more source
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 +10 more
wiley +1 more source
This study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT)
Jiraphun Jittikoon (9873716) +6 more
core +1 more source
Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome
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 +11 more
wiley +1 more source

