Results 41 to 50 of about 44,816 (254)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Molar Ectopic Pregnancy after Tubectomy [PDF]

Acta Medica Iranica, 2012
Tubal ectopic hydatidiform mole is an uncommon but very important complication of pregnancy. The clinical manifestation is the same as ectopic pregnancy and in all of the cases management was the same as tubal ectopic pregnancy.
Zahra Heidar, Fateme Sadat Sarfjoo, Shahrzad Zademodares, Malihe Habibollahi, Neda Kheiri   +4 more
doaj   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source

Top‐quality embryo transfer is associated with lower odds of ectopic pregnancy

Acta Obstetricia et Gynecologica Scandinavica, 2022
Introduction The incidence of ectopic pregnancy is up to four times higher after in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) than in spontaneous pregnancies, and the risk of ectopic pregnancy is increased by tubal factor ...
Simona Anzhel, Sirpa Mäkinen, Helena Tinkanen, Tiina Mikkilä, Anni Haltia, Antti Perheentupa, Candido Tomás, Hannu Martikainen, Aila Tiitinen, Juha S. Tapanainen, Zdravka Veleva   +10 more
doaj   +1 more source

Unraveling ovarian histology: The key morphological aspects that spur the development of the Fossa ovarii in equine

The Anatomical Record, EarlyView.
Abstract The equine ovary exhibits unique structural and developmental features that distinguish it from those of other domestic species, including the presence of an ovulation fossa and an inversion of cortical and medullary layers. This study aimed to investigate the morphostructural development of the equine fetal ovary, with particular emphasis on ...
Laura Ver Goltz, Silvio Pires Gomes, Bruno Cesar Schimming, Fabio Cesar Magioli Abdala, Maria Angélica Miglino, Tais Harumi de Castro Sasahara   +5 more
wiley   +1 more source

Risk Factors for Recurrent Ectopic Pregnancy: A Case - Control Study

Gynecology Obstetrics & Reproductive Medicine, 2014
OBJECTIVES: To investigate the role of epidemiological factors in recurrent ectopic pregnancies. STUDY DESIGN: From January 2003 to February 2005, 205 women with single ectopic pregnancy and 20 women with recurrent ectopic pregnancy were identified. The
Abdullah Karaer, Sabri Cavkaytar, İsmail Mert, Sertaç Batıoğlu   +3 more
doaj  

Immunoinformatics‐Based Design of a Multi‐Epitope Vaccine Targeting a Conserved Copper–Associated Protein in Neisseria gonorrhoeae

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Neisseria gonorrhoeae poses an urgent public health challenge due to rapidly increasing antimicrobial resistance and the absence of an effective vaccine. Targeting conserved bacterial pathways involved in essential physiological processes may provide new opportunities for vaccine antigen discovery.
Sinethemba H. Yakobi, Uchechukwu U. Nwodo   +1 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

The trend of the distribution of ectopic pregnancy sites and the clinical characteristics of caesarean scar pregnancy

Reproductive Health, 2022
Plain language summary Ectopic pregnancy occurs when a fertilized ovum implants outside the endometrium of the uterine cavity, which is a life-threatening occurrence and is an important cause of pregnancy-related mortality.
Panpan Tang, Xiaomao Li, Wenwei Li, Yunhui Li, Yu Zhang, Yuebo Yang   +5 more
doaj   +1 more source