Results 71 to 80 of about 10,126 (196)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Fetoscopic Amniotic Band Release in a Case of Chorioamniotic Separation: An Innovative New Technique

American Journal of Perinatology Reports, 2016
Introduction Fetoscopic release of amniotic bands has proved its life- and limb-saving potential. Rupture of the amnion and separation of chorion from the amnion and uterine wall can however preclude the standard fetoscopic approach to release the ...
Michael A. Belfort, William E. Whitehead, Robert Ball, Robert Silver, Alireza Shamshirsaz, Rodrigo Ruano, Jimmy Espinoza, Judith Becker, Olutoyin Olutoye, Larry Hollier   +9 more
doaj   +1 more source

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

The Journal of Dermatology, Volume 53, Issue 5, Page e257-e356, May 2026.
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

Salvage of Necrotic-Appearing Limb after In Utero Endoscopic Lysis of Constriction Bands

American Journal of Perinatology Reports, 2017
We report a case of amniotic band syndrome complicated by constriction bands and marked distal swelling of both lower extremities. Color Doppler interrogation of the right lower extremity revealed complete lack of blood flow below the level of the ...
M. Abdel-Sattar, A. Chon, B. Chen, W. Burkhalter, R.H. Chmait   +4 more
doaj   +1 more source

Vergleich dreier Ringversuche zur radioimmunologischen Thyrotropin-Bestimmung nach dem "Münchner Modell" [PDF]

, 1983
Peer ...
Habermann, J., König, A., Marschner, I., Scriba, Peter Christian, van Thiel, D., Wood, W. G.   +5 more
core   +2 more sources

Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders

Annals of Human Genetics, Volume 90, Issue 3, Page 202-214, May 2026.
ABSTRACT Background and Aims Sherpa highlanders exhibit remarkable tolerance to hypoxia, most likely due to genetic adaptations shaped by natural selection at high altitude. This study examined the roles of endothelial PAS domain protein 1 (EPAS1) and egl‐9 family hypoxia‐inducible factor 1 (EGLN1) in the genetic mechanisms underlying this adaptation ...
Yunden Droma, Fengming Yue, Masao Ota, Nobumitsu Kobayashi, Yoshiaki Kitaguchi, Masayuki Hanaoka   +5 more
wiley   +1 more source

Aplasia Cutis Congenita in Bart's Syndrome: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Aplasia cutis congenita (ACC) is a partial or complete absence of skin layers which can be a part of a syndromic disease. Bart's syndrome is a combination of clinical manifestations including ACC, epidermolysis bullosa, blistering in the oral mucosa, nail dystrophy, or congenital absence of nails. Additional anomalies, such as pyloric atresia,
Parvaneh Sadeghimoghadam, Niloofar Hoorshad, Maryam Ghavami Adel, Mahroo Rezaeinejad, Marjan Ghaemi   +4 more
wiley   +1 more source

Indications for Antenatal Genetic Diagnosis [PDF]

, 1977
The future of antenatal genetic diagnosis is an exciting one. Recent advances include the application of chromosal banding techniques to identify subtle abnormalities and rearrangements; ultrasonography, using high resolution gray scale equipment to ...
Petres, Robert E., Redwine, Fay
core   +1 more source

Engineering Lipid Nanoparticles for Precision RNA Delivery: Design Principles, Targeting Strategies, and Clinical Prospects

Cancer Nexus, Volume 2, Issue 2, April 2026.
ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han, Ying Wang, Xintao Gao, Yan Lei, Yantao Li, Zhiyong Tang   +5 more
wiley   +1 more source

Luchador pulp flap for amniotic band syndrome distal fingertip and lateral nail fold reconstruction

Journal of Orthopaedic Reports
Amniotic band syndrome affecting the distal tip of the finger can result in a significant distal pulp and lateral nail fold deformity. Loss of the lateral nail fold can be further complicated by abnormal nail growth and increased risk of infection ...
Isabel Silva, Thais Calderon, Michael G. Galvez   +2 more
doaj   +1 more source