Results 101 to 110 of about 44,262 (279)

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

Selective ultrasound screening is inadequate to identify patients who present with symptomatic adult acetabular dysplasia

Journal of Children's Orthopaedics, 2014
Purpose One goal of neonatal screening for developmental dysplasia of the hip (DDH) is the prevention of late surgery. However, the majority of patients with acetabular dysplasia at skeletal maturity are not diagnosed with DDH during infancy.
Ernest L. Sink, Benjamin F. Ricciardi, Katrina Dela Torre, Charles T. Price   +3 more
doaj   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Developmental Hip Dysplasia Presenting as Bilateral Osteochondritis Dissecans Perthes-like Lesions Treated with Triple Pelvic Osteotomies: A Case Report

Journal of Orthopaedic Case Reports
Introduction: Osteochondritis dissecans (OCD) of the femoral head accounts for approximately 2% of all OCD cases. Most of the OCD lesions affecting the femoral head are secondary to pathologies concerning the femoral component of the hip joint, such as ...
Carlos Guevara-Serra, José I Acosta Julbe, Miguel M Girod, Ariel Dávila-Parrilla   +3 more
doaj   +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

Ultrasonography of the painful hip in childhood [PDF]

, 1999
There are many diseases in childhood that affect the hip joint. Some diseases are systemic in origin and initially may present themselves as hip disorders, such as rheumatoid arthritis.
Robben, S.G.F. (Simon)
core   +2 more sources

Prevalence of hip and elbow dysplasia in young adult dogs in Sweden

Veterinary Record, EarlyView.
Abstract Background Hip and elbow dysplasia (HD and ED) are common developmental orthopaedic disorders in dogs. The study objectives were to report population‐based estimates of HD and ED prevalence at screening in young adult dogs of different breeds and to evaluate the phenotypic association between HD and ED.
Karolina Engdahl, Sofia Malm Persson, Linda Andersson, Sara Ringmark, Charlotte Reinhard Bjørnvad, Åke Hedhammar, Katja Höglund   +6 more
wiley   +1 more source

The prevalence and surgical outcome of late diagnosed hip dysplasia in children with Prader-Willi syndrome: a retrospective study

BMC Musculoskeletal Disorders
Background Prader-Willi syndrome (PWS) is a rare disease. Hip dysplasia is an orthopedic-related disease of PWS. Limited literature exists on the prevalence, diagnosis, and surgical management of late diagnosed hip dysplasia in PWS.
Yueqiang Mo, Chunxing Wu, Peng Huang, Dahui Wang, Yanhui Jing, Bo Ning   +5 more
doaj   +1 more source

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis [PDF]

, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al.
Fukao, Toshiyuki, Orii, Kenji, Orii, Tadao, Suzuki, Yasuyuki, Tomatsu, Shunji   +4 more
core   +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