Results 61 to 70 of about 76,750 (219)

High‐flow nasal cannula oxygen therapy for respiratory management after postoperative re‐intubation/re‐extubation in patients with trisomy 18 and trisomy 13: Two case reports

open access: yesClinical Case Reports, 2023
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

open access: yesThe Laryngoscope, EarlyView.
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

open access: yesMovement Disorders, EarlyView.
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]

open access: yesJournal of Clinical and Diagnostic Research, 2017
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]

open access: yes, 2009
[[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

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

open access: yesPrenatal 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   +15 more
wiley   +1 more source

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

open access: yesPrenatal 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   +6 more
wiley   +1 more source

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

open access: yesPrenatal 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   +10 more
wiley   +1 more source

Prevalence of trisomy.

open access: yes, 2023
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

open access: yesPrenatal 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   +11 more
wiley   +1 more source

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