Results 101 to 110 of about 14,956 (269)

clinical homogeneity and allelic heterogeneity in seven patients [PDF]

, 2016
Background Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene.
Bidchol, Abdul Mueed, Girisha, Katta Mohan, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Kutsche, Kerstin, Lessel, Davor, Nader, Sean, Shah, Hitesh, Wickert, Julia   +9 more
core   +1 more source

[Historical review of congenital foot deformity treatment].

Medicinski pregled, 2012
There is still no good solution for the treatment of all the forms of clubfoot.The first written description of the treatment of this deformity was given by Hippocrates. In the Middle Ages, Galenus, Celsus and Averroe only reviewed the lessons of Hippocrates's principles.
Mirjana, Petković, Lazar, Petković, Dusanka, Dobanovacki, Milos, Pajić, Aleksandra, Matić   +4 more
openaire   +1 more source

Dedicated First‐Trimester Anomaly Scan in a National Prenatal Screening Program and Timing of Diagnosis: The Prospective IMITAS Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To determine the diagnostic yield of a nationally implemented first‐trimester anomaly scan (FTAS), compared to standard obstetric care with a second‐trimester anomaly scan. Design Prospective observational cohort study. Setting Nationwide prenatal screening program in the Netherlands.
Kim Bronsgeest, Eline E. R. Lust, Lidewij Henneman, Neeltje Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Nan van Geloven, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Elisabeth van Leeuwen, Gwendolyn T. R. Manten, Eva Pajkrt, Mireille N. Bekker, Monique C. Haak, the IMITAS study group, Eline S. van den Akker, Marcel van Alphen, Jelle H. Baalman, Babette A. M. Braams‐Lisman, Addy P. Drogtrop, Katja de Graaff, Anjoke J. M. Huisjes, Marloes E. van Huizen, Piet Hummel, Els A. P. de Jong, Ineke Krabbendam, Simone Lunshof, Marinka S. Post, Robbert J. P. Rijnders, Eva Stekkinger, Floortje Vlemmix, Tatjana Vogelvang, Karlijn C. Vollebregt, Sabina de Weerd, Lia Wijnberger, Wim J. van Wijngaarden   +38 more
wiley   +1 more source

Is lower-limb alignment associated with hindfoot deformity in the coronal plane? A weightbearing CT analysis [PDF]

, 2020
Barg, Alexej, Buedts, Kris, Burssens, Arne, Demey, Patrick, Saltzman, Charles L., Victor, Jan, Vluggen, Elizabeth   +6 more
core   +1 more source

Complications of Pregnancy and Birth in Women With Vascular Malformations: A Nationwide Cross‐Sectional Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To investigate risks of pregnancy and birth in patients with peripheral vascular malformations (VMs). Design Nationwide cross‐sectional study. Setting Tertiary referral centre and Dutch national patient organisation. Population Women aged ≥ 15 years diagnosed with peripheral VM of any subtype or anatomical location.
Delano J. de Oliveira Marreiros, Max M. Lokhorst, Sophie E. R. Horbach, Merel L. E. Stor, Naomi van Hout, Victor E. A. Gerdes, Wessel Ganzevoort, Chantal M. A. M. van der Horst   +7 more
wiley   +1 more source

Long-term Follow up of Van Nes Rotationplasty for Congenital Proximal Focal Femoral Deficiency [PDF]

, 2013
Van Nes rotationplasty may be used for patients with congenital proximal focal femoral deficiency (PFFD). The lower limb is rotated to use the ankle and foot as a functional knee joint within a prosthesis.
Ackman, Jeffrey D., Altiok, Haluk, Eastwood, Dan C., Flanagan, Ann, Graf, Adam, Harris, Gerald F, Hassani, Sahar, Krzak, Joseph, Peer, Mary   +8 more
core   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

The All-Medial Approach in Severe Plano-Valgus Foot & Ankle Deformity with Subtalar Dislocation. Anatomy, Indications, and Outcomes of a Promising New Technique

Foot & Ankle Orthopaedics
Category: Midfoot/Forefoot; Diabetes Introduction/Purpose: The complex challenge of reconstructing severe planovalgus deformity of the foot and ankle, often accompanied by subtalar dislocation, is characterized by a heightened risk of lateral wound ...
Firas Raheman MD(Res), MSc(Dist), MRCS, Basil Budair MBBS, MSc, FRCS (TrOrth), Ines Reichert MD, PhD, FRCS (TrOrth), Raju Ahluwalia MBBS, MFSEM, FRCS (TrOrth)   +3 more
doaj   +1 more source