Results 81 to 90 of about 14,956 (269)

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking [PDF]

, 2019
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is ...
AziziMalamiri, R, Bayram, N, Bibi, F, Cirak, S, Cooper, E, Efthymiou, S, Galehdari, H, Houlden, H, Jamshidi, Y, Kaçar Bayram, A, Mazaheri, N, Naghibzadeh, K, Nedic, I, Ozdemir, O, Per, H, Pergrande, M, Salpietro, V, Sami Güven, A, Shalbafan, B, Shariati, G, Sprute, R, Stumpfe, K, Sultan, T, Tajik, M, Wang, H, Yaşar, M, Zeighami, J   +26 more
core   +3 more sources

MANAGEMENT OF ATYPICAL CLUBFOOT BY PONSETI METHOD

Travmatologiâ i Ortopediâ Rossii, 2016
From May 2006 to August 2009 analyzed 28 clinical observations (34 feet) for children aged from 7 days to 1.5 years with severe atypical congenital clubfoot (Pirani 5,6 points), treated by the method of I. Ponseti.
V. F. Blandinsky, M. A. Vavilov, T. E. Torno, A. V. Donskoy   +3 more
doaj   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

The lived experience of Dupuytren's disease of the hand [PDF]

, 2009
This article is made available through the Brunel Open Access Publishing Fund.Aims: To describe patients’ experiences of living with Dupuytren’s disease. Background. Dupuytren’s disease is a chronic, progressive deformity of the hand which limits active
Byrne, G
core   +1 more source

Formation deformity of foot with congenital IV brachymetatarsia

European Science Review, 2017
The radiological features (linear and angulometric) at 49 patients with congenital shortening of metatarsals are studied and measured. Characteristic changes in forefoot with congenital brachymetatarsia are revealed. Roentgenograms of one patient with left sided congenital IV brachymetatarsia were studied dynamically before (within 5 years) and after ...
openaire   +2 more sources

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

JEADV Clinical Practice, EarlyView.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk   +2 more
wiley   +1 more source

Corrective shoeing as the only treatment of a congenital flexural deformity of the distal interphalangeal joint in the hind limb of a Spanish filly [PDF]

, 2009
En el presente artículo se describe el caso de una potra PRE, de 18 meses de edad, con una deformación flexural congénita de la articulación interfalangiana distal del miembro pelviano derecho, que respondió a una serie de herrados correctivos ...
Lara, M.C., Medina, M.A., Muñoz, A., Riber, C.   +3 more
core  

Amputation and rotationplasty in children with limb deficiencies: current concepts [PDF]

, 2016
Purpose Amputations and fitting surgery have a long history in children with limb deficiencies. With the current developments in limb reconstruction and new techniques in prosthetics, the indications for amputation and fitting surgery might have shifted,
Iris van Wijk, Ralph Sakkers
core   +1 more source

MoCo + ROVir: Synergy Between Respiratory Motion Compensation and Cardiac Receive Region Focusing for Cardiac MRI

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To improve cardiac motion representation and reduce artifacts for cardiac‐ and respiratory‐resolved imaging through a synergistic combination of retrospective cardiac phased array RF focusing and rigid respiratory motion compensation (MoCo).
Zheyuan Hu, Hsu‐Lei Lee, Tianle Cao, Takegawa Yoshida, Lingceng Ma, J. Paul Finn, Kim‐Lien Nguyen, Anthony G. Christodoulou   +7 more
wiley   +1 more source

Respiratory Motion‐Corrected Model‐Based 3D Water‐Fat MRA of the Thorax at 0.55 T

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose The goal of this study was to develop a 5‐min 3D MRA acquisition at 0.55 T with predictable scan time, 100% data efficiency, and robust water‐fat separation. Methods For full data efficiency, the proposed method combined self‐gating with retrospective motion correction while ensuring a predictable 5‐min scan time.
Robert Stoll, Christoph Kolbitsch, Michaela Schmidt, Marcel Dominik Nickel, Tobias Schaeffter, Daniel Giese   +5 more
wiley   +1 more source