Results 51 to 60 of about 17,146 (248)

Obstetric and Neonatal Outcomes in Pregnancies From a Dedicated Cystic Fibrosis‐Maternal Health Service: A Retrospective Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective A comprehensive review of maternal, obstetric and neonatal outcomes in pregnancies in females with cystic fibrosis (fwCF) following the introduction of Elexacaftor/Tezacaftor/Ivacaftor (ETI) therapy in a novel, dedicated CF‐Maternal Health service.
Rebecca Scott, Amy Downes, Ladina Weitnauer, Rebecca Dobra, Natasha Singh, Rachel Robinson, Emily Diable, Saraha Collins, Elaine Bowman, Thomas Tobin, Andrew Jones, Nicholas Simmonds, Imogen Felton   +12 more
wiley   +1 more source

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia [PDF]

, 2016
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a
Behan, Laura, Carroll, Mary, Dimitrov, Borislav D., Evans, Hazel J., Goutaki, Myrofora, Harris, Amanda, Hogg, Claire, Kuehni, Claudia E., Lucas, Jane S., Packham, Samantha, Walker, Woolf T.   +10 more
core   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

Clinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

Situs inversus partialis (levocardia): an incidental discovery of an extremely rare case during the autopsy of a female with suicidal poisoning

Surgical and Experimental Pathology
Background Situs inversus is a rare congenital anomaly. In this condition, the abdominal and chest organs are positioned in reverse, a mirror image of the normal anatomical position. It is divided into two categories. 1.
Jayeshkumar Kanani, Mohammed Iliyas Sheikh   +1 more
doaj   +1 more source

Blunt splenic injury in a child with situs inversus totalis treated with transcatheter arterial embolization

Journal of Pediatric Surgery Case Reports, 2016
We report the first case of blunt splenic rupture in a child with situs inversus totalis treated with transcatheter arterial embolization (TAE). A 12-year-old girl fell roughly 4 feet onto the pavement while riding her bicycle. Contrast-enhanced computed
Naoki Hashizume, Kimio Asagiri, Naoko Komatsuzaki, Suguru Fukahori, Shinji Ishii, Nobuyuki Saikusa, Naruki Higashidate, Motomu Yoshida, Saki Sakamoto, Hirotomo Nakahara, Yoshihiko Konoike, Kojiro Nagai, Shigeo Shimose, Takashi Niizeki, Minoru Yagi   +14 more
doaj   +1 more source

Idiopathic thrombocytopenic purpura in a patient with situs inversus totalis: case report and literature review

Einstein (São Paulo), 2020
Situs inversus totalis is a rare recessive autosomal congenital abnormality in which the mediastinal and abdominal organs are in a mirrored position when compared to the usual topography.
Carolina Rodrigues Dal Bo, Beatriz Piovesana Devito, Leticia Piovesana Devito, Gabriella Paes del Papa, Nelson Hamerschlak   +4 more
doaj   +2 more sources

Laparoscopic Cholecystectomy in Situs Inversus Totalis [PDF]

Journal of Clinical and Diagnostic Research, 2014
Situs inversus totalis is a rare condition where the organs in the body is placed in the opposite side. When such patient presents with the diseases of the intra abdominal organs the diagnosis is challenging and the operative procedure to be performed ...
Raghuveer M N, Mahesh Shetty S, Sunil Kumar B B   +2 more
doaj   +1 more source

Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]

, 2013
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R, Silverman, Norman H, Solomon, Julia E, Stock, John H   +3 more
core   +2 more sources

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source