Results 51 to 60 of about 16,202 (282)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

TREATING SIMPLE BENIGN ESOPHAGEAL STRICTURES WITH SAVARY-GILLIARD DILATORS: IS THE RULE OF THREE STILL NECESSARY?

Arquivos de Gastroenterologia, 2019
BACKGROUND: Bougies dilation is considered an effective technique for the treatment of simple benign esophageal strictures. The “rule of three” has been advocated to prevent reported adverse events such as bleeding and perforation. However, adherence to
Carlos ROBLES-MEDRANDA, Roberto OLEAS, Haydee ALVARADO-ESCOBAR, Miguel PUGA-TEJADA, Jorge BAQUERIZO-BURGOS, Hannah PITANGA-LUKASHOK   +5 more
doaj   +1 more source

Takotsubo cardiomyopathy during armed conflict: A case series

ESC Heart Failure, Volume 12, Issue 2, Page 1494-1498, April 2025.
Sharon Bruoha, Artyom Star, Gili Givaty, Michael Shilo, Michael Friger, Vladimir Chitoroga, Hezzy Shmueli, Yigal Abramowitz, Elad Asher, Jamal Jafari, Vladimir Shlyakhover, Doron Zahger, Moti Haim, Chaim Yosefy   +13 more
wiley   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

Chiropractic spinal manipulative therapy versus physical therapist‐led exercise and the risk of cauda equina syndrome in adults with lumbar disc herniation, stenosis, or radiculopathy

PM&R, EarlyView.
Abstract Background Cauda equina syndrome is a surgical emergency often caused by lumbar disc herniation. Spinal manipulative therapy is commonly used for lumbar spine disorders, but case reports have raised concerns it may precipitate cauda equina syndrome. One cohort study suggested no increased risk, although it did not focus on patients with lumbar
Robert J. Trager, Anthony N. Baumann, Romeo‐Paolo T. Perfecto, Christine M. Goertz   +3 more
wiley   +1 more source

Cystoscopic extraction of an unusual intravesical foreign body: A case report

UroPrecision, EarlyView.
Abstract Background Foreign bodies (FBs) in the urogenital tract are considered surgical emergencies due to the risk of complications such as perforation, infection, and obstruction. FBs can be introduced into the urethra and migrate into the bladder. Various FBs, including pens, jump ropes, magnetic ball chains, and needles have been reported in the ...
Mohannad N. AbuHaweeleh, Majd Alkabbani, Yaser M. Ata, Ahmad Itani, Abdulqadir Alobaidy   +4 more
wiley   +1 more source

A Randomized Comparative Study of the Use of Individual Modality and Combination of Endoscopic Retrograde Cholangiopancreatography (ERCP) and Digital Single-Operator Cholangioscopy (DSOC) for Diagnosis of Indeterminate Biliary Strictures

Advanced Biomedical Research
Background: To determine the superiority of the combination of endoscopic retrograde cholangiopancreatography (ERCP) and digital single-operator cholangioscopy (DSOC) in the same sitting over the individual modality alone in patients with indeterminate ...
Dheeraj Kumar, Vishwa M. Dayal, Sanjeev K. Jha, Ashish K. Jha, Ravi K. Kumar   +4 more
doaj   +1 more source

Predictive factors for malignancy in undiagnosed isolated small bowel strictures

Intestinal Research, 2017
Background/Aims: Patients with small bowel strictures have varied etiologies, including malignancy. Little data are available on the demographic profiles and etiologies of small bowel strictures in patients who undergo surgery because of intestinal ...
Ujjwal Sonika, Sujeet Saha, Saurabh Kedia, Nihar Ranjan Dash, Sujoy Pal, Prasenjit Das, Vineet Ahuja, Peush Sahni   +7 more
doaj   +1 more source

Japanese Clinical Practice Guidelines for Vascular Tumors, Vascular Malformations, Lymphatic Malformations, and Lymphangiomatosis 2022

The Journal of Dermatology, EarlyView.
ABSTRACT The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence‐based medicine techniques and aimed at improvement of the outcomes.
Yoshiaki Kinoshita, Kosuke Ishikawa, Sadanori Akita, Katsuyoshi Koh, Satoru Sasaki, Masatoshi Jinnin, Hidefumi Mimura, Keigo Osuga, Michio Ozeki, Michiko Nagahama, Akihiro Fujino, Yoko Aoki, Akiko Asai, Noriko Aramaki‐Hattori, Ryohei Ishiura, Masanori Inoue, Yuki Iwashina, Takafumi Ohshiro, Keiko Ogawa, Mine Ozaki, Junko Ochi, Shiro Onozawa, Motoi Kato, Takahide Kaneko, Tamihiro Kawakami, Akira Kitagawa, Masakazu Kurita, Yoshihiro Kuwano, Taro Kono, Shien Seike, Shinsuke Takagi, Nobuyuki Takakura, Takao Tachibana, Shuichi Tanoue, Kumiko Chuman, Hiroki Nakaoka, Yasuhiro Nakamura, Fumio Nagai, Yasunari Niimi, Shunsuke Nosaka, Taiki Nozaki, Tadashi Nomura, Kazuki Hashimoto, Ayato Hayashi, Satoshi Hirakawa, Takeshi Hirabayashi, Taizo Furukawa, Hiroshi Furukawa, Yumiko Hori, Takanobu Maekawa, Kentaro Matsuoka, Hideki Mori, Eiichi Morii, Akira Morimoto, Yuta Moriwaki, Shunsuke Yuzuriha, Naoaki Rikihisa, Munezumi Fujita, Yasuyuki Yamahana, Kyoichi Deie, Asami Tozawa, Daisuke Hasegawa, Akira Higashiyama, Daisuke Maeda, Sachiko Asayama, Yuhki Arai, Yohei Iwata, Mayu Uka, Hidehito Usui, Mizuki Uchiyama, Saori Endo, Hideki Endo, Rintaro Ono, Naoya Oshima, Toshihiro Otsuka, Kuniaki Ohara, Shinji Kagami, Tomo Kakihara, Mototoshi Kato, Hiroki Kanamori, Masafumi Kamata, Ami Kawaguchi, Akiko Kishi, Hiroshi Kitagawa, Kiyokazu Kim, Tamotsu Kobayashi, Takeshi Saito, Yusuke Shikano, Shuichi Shimada, Keisuke Suzuki, Masataka Takahashi, Shohei Takami, Reiko Takeda, Aya Tanaka, Kaishu Tanaka, Satoru Tamura, Masashi Tamura, Kanako Danno, Kenji Tsuboi, Yuta Nakajima, Ryo Nakatani, Miho Noguchi, Akifumi Nozawa, Naoki Hashizume, Masashi Hayakawa, Daichi Hayashi, Takaya Fukumoto, Mamoru Honda, Norifumi Matsuda, Hayato Maruguchi, Naoki Murakami, Kiichiro Yaguchi, Shiho Yasue, Hiroki Yoshihara, Rika Yoshimatsu, Kiyohito Yamamoto, Shinji Wada   +116 more
wiley   +1 more source