Results 31 to 40 of about 2,226 (184)

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease. [PDF]

Neurogastroenterol Motil
As an orphan disease, where treatment is not curative and diagnosis is often slow, VSCM represents a serious health and social problem requiring research efforts in several directions. ABSTRACT Background Visceral myopathy (VSCM) is an ultra‐rare life‐threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and ...
de Santa Barbara P, Ceccherini I, Heuckeroth RO, Di Lorenzo C, Alves MM, Beyder A, Borrelli O, Cacopardo L, Ceron R, Chen J, Chiappori F, Contessa A, De Giorgio R, Diamanti A, Faticato MG, Faure S, Hashmi SK, Huizinga JD, Kapur RP, Lambe C, Lancon L, McManigal R, Mousa H, Palmitelli A, Perreaux V, Prato AP, Pitto M, Proietti E, Rendu J, Rybak A, Sanders KM, Sardar S, Stanghellini V, Tambucci R, Thapar N, Vanden Berghe P, Vassalli M, Wang Q, Wangler M, Wolfson S, Zada A, Zhou J, Viti F.   +42 more
europepmc   +2 more sources

Evaluation of Fetuses Diagnosed with Megacystis During Prenatal Period

Gynecology Obstetrics & Reproductive Medicine, 2021
Objectives: Fetal megacystis is very rare; however this problem may be associated with other structural or chromosomal abnormalities leading to morbidity and mortality.
Kemal Sarsmaz, Busra Kanyildiz, Gokcen Orgul, Gokhan Karakoc, Hasan Eroglu, Dilek Sahin, Aykan Yucel   +6 more
doaj   +1 more source

Undetected cases after implementation of first-trimester anomaly scan in low-risk population: insights from the IMITAS study. [PDF]

Ultrasound Obstet Gynecol
ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
Bronsgeest K, Lust EER, Zaaijer SCE, Henneman L, Crombag N, Bilardo CM, Galjaard RH, Sikkel E, Teunissen AKK, Bekker MN, Haak MC, Collaborators.   +11 more
europepmc   +2 more sources

Urethral duplication with congenital megacystis and obstructive megaureter – A rare association

Indian Journal of Urology, 2021
Urethral duplication (UD) in a female is a rare congenital anomaly. Although UD is commonly associated with other congenital anomalies of the urinary tract, its association with congenital megacystis with obstructive megaureter has not yet been reported.
Praveen Singh, H Krishnamoorthy, S Pillai Biju   +2 more
doaj   +1 more source

Megacystis in the first trimester as an unreported sonographic finding of alveolar capillary dysplasia with misalignment of pulmonary veins confirmed by whole-exome sequencing

Journal of Medical Ultrasound, 2023
A pregnant woman was revealed to have fetal univentricular heart and megacystis by a routine first-trimester ultrasound. Chorionic villus sampling with the use of karyotyping and microarray found no causative etiologies.
Yan-Dong Yang, Dong-Zhi Li
doaj   +1 more source

Megacystis-Microcolon–Intestinal Hypoperistalsis Syndrome: A Case Report [PDF]

, 2022
A 1-day-old girl, late preterm (36 weeks 3 days) infant, was admitted to the neonatal intensive care unit for respiratory distress and megacystis seen on a prenatal ultrasound at 24 weeks of gestation. A babygram (anteroposterior view of the entire body)
Chen, Johnathan, Kinzel, Adam James
core   +1 more source

Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy [PDF]

, 2018
Objective: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethral ...
Fontanella, F., Adama van Scheltema, PN, Bax, CJ, Bax, C.J., Cohen-Overbeek, T.E., Pajkrt, E., Bilardo, C.M., Christine Willekes, Fontanella, F, Scheltema, P.N.A. van, van Duin, L, Adama van Scheltema, Phebe N., Fontanella, Federica, Leonie Duin, Oepkes, D., Oepkes, D, Cohen-Overbeek, Titia E., Pajkrt, Eva, Bilardo, Catia M, Bilardo, CM, Bekker, M., Willekes, C., Bekker, Mireille, Phebe N. Adama van Scheltema, Dick Oepkes, Federica Fontanella, Oepkes, Dick, Pajkrt, E, Cohen-Overbeek, Titia E, Mireille Bekker, Catia M. Bilardo, Adama van Scheltema, Phebe N, Titia E. Cohen-Overbeek, Bax, Caroline J., Bax, Caroline J, Willekes, C, van Scheltema, Phebe N. Adama, Duin, L., Duin, Leonie, Fontanella, Federica; id_orcid, Bilardo, Catia M., Willekes, Christine, Eva Pajkrt, Overbeek, Titia, Bekker, M, Caroline J. Bax   +45 more
core   +5 more sources

Implementation and Performance of First-Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines. [PDF]

J Clin Ultrasound
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Volpe G, Sarno L, Mantovani E, Di Mascio D, D'Ambrosio V, Fanelli T, Fantasia I, Minnella GP, Quaresima P, Corno E, Dall'Asta A, SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG).   +11 more
europepmc   +2 more sources

A case of yogurt central line-associated bloodstream infection in a child with intestinal failure. [PDF]

Nutr Clin Pract
Abstract Central line‐associated bloodstream infections (CLABSI) are a significant cause of morbidity in children with intestinal failure (IF). Probiotic therapy is discouraged in patients with IF because of the increased risk of bacteremia with the probiotic organism.
Rahim N, Keller E, Wagner E, Berkemeyer A, Johnson T, Johnson D, Sentongo T.   +6 more
europepmc   +2 more sources

Congenital lower urinary tract obstruction with spontaneous fetal bladder rupture due to posterior urethral valves: a case report

Journal of Medical Case Reports, 2023
Background Congenital lower urinary tract obstruction (LUTO) is a rare but significant condition affecting fetal urinary tract development. LUTO has a range of etiologies, with posterior urethral valves (PUV) being the most common cause.
Max Adriaenssens, Veerle De Boe
doaj   +1 more source