Results 101 to 110 of about 64,265 (297)

Percutaneous Transhepatic Treatment of Benign Bile Duct Strictures Using Retrievable Covered Stents: Long-Term Outcomes in 148 Patients

, 2022
Byung Soo Im, Dong Il Gwon, Hee Ho Chu, Jin Hyoung Kim, Gi‐Young Ko, Hyun‐Ki Yoon   +5 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Clinical Practice and Safety of Endoscopic Balloon Dilation for Crohn’s Disease–Related Strictures: A Nationwide Claim Database Analysis in Japan

Gastroenterology Research and Practice
Conclusion: Our findings support the safe and effective use of EBD for both ileal and colonic strictures associated with CD. The clinical practice and safety outcomes of EBD for CD-related strictures were comparable to those for strictures stemming from ...
Rintaro Moroi, Kunio Tarasawa, Hiroshi Nagai, Yusuke Shimoyama, Takeo Naito, Hisashi Shiga, Shin Hamada, Yoichi Kakuta, Kiyohide Fushimi, Kenji Fujimori, Yoshitaka Kinouchi, Atsushi Masamune   +11 more
doaj   +1 more source

Strategies to prevent stricture after esophageal endoscopic submucosal dissection [PDF]

, 2019
Meihong Yu, Yuyong Tan, Deliang Liu
openalex   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Urethral stricture [PDF]

Postgraduate Medical Journal, 1980
openaire   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Post-living donor liver transplant biliary strictures: prevalence, predictors, and long-term outcomes in a retrospective study

Clinical Transplantation and Research
Background : Post-liver transplant biliary strictures are a common cause of morbidity among patients who have undergone living donor liver transplantation (LDLT).
Shekhar Singh Jadaun, Phani Kumar Nekarakanti, Sushant Bhatia, Mukesh Kumar, Pankaj Singh, Vikas Singla, Shweta A. Singh, Shaleen Agarwal, Sanjiv Saigal, Subhash Gupta   +9 more
doaj   +1 more source

Efficacy of Holmium Laser Urethrotomy in Combination with Intralesional Triamcinolone in the Treatment of Anterior Urethral Stricture [PDF]

, 2012
Santosh Kumar, Ankur Kapoor, Raguram Ganesamoni, Bhuvanesh Nanjappa, Varun Sharma, Uttam Mete   +5 more
openalex   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source