نتایج جستجو برای: cmt 4a

تعداد نتایج: 7820  

2011
Sung Nyun Kim Yong Beom Shin Wan Kim Hwi Suh Han Kyeong Son Young Sun Cha Jae Hyeok Chang Hyun-Yoon Ko In Sook Lee Min Jeong Kim

OBJECTIVE To investigate the coexistence rate and related factors of developmental dysplasia of the hip (DDH) and congenital muscular torticollis (CMT), and to determine whether ultrasonography (US) gives good value for screening of DDH in CMT. METHOD We prospectively examined 121 infants (73 males and 48 females) diagnosed with CMT to determine the incidence of DDH by US. We also assessed th...

Journal: :American journal of human genetics 1999
M J Kovach J P Lin S Boyadjiev K Campbell L Mazzeo K Herman L A Rimer W Frank B Llewellyn E W Jabs D Gelber V E Kimonis

Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive features of CMT and deafness, originally reported by Kousseff et al. Genetic analysis of 70 individual...

Journal: :Breastfeeding medicine : the official journal of the Academy of Breastfeeding Medicine 2007
Ronit Lubetzky Francis B Mimouni Shaul Dollberg Mazal Salomon Dror Mandel

OBJECTIVE The objective of this study was to test the hypothesis that fat content of expressed human milk from mothers of preterm infants is higher in samples expressed in the evening than in the morning during the first 7 weeks of lactation. METHODS The authors collected samples of expressed human milk obtained from 22 mothers of growing preterm infants, born at 26 to 31 weeks gestation, who...

Journal: :Archives of disease in childhood 2018
Krista Keilty Eyal Cohen Karen Spalding Eleanor Pullenayegum Robyn Stremler

OBJECTIVES Family caregivers of children who depend on medical technology (CMT) provide highly skilled care up to 24 hours per day. Sleep disruption places family caregivers at risk for poor health and related outcomes that threaten their long-term caregiving capacity. Few studies exist that have measured sleep in family caregivers, and most have relied entirely on subjective measures. METHOD...

2017
Joshua Peterson Anthony N. Hage Stephan Diljak Benjamin D. Long Daniel P. Marcusa David W. Brzezinski Jonathan Eliason

BACKGROUND Celiacomesenteric trunk (CMT) is a very rare anatomic finding in which the celiac artery and the superior mesenteric artery (SMA) originate from the abdominal aorta through a common trunk. Clinical associations with CMT include arterial aneurysm, thrombosis, and celiac artery compression. However, an association between CMT and abdominal venous congestion caused by left renal vein co...

2014
Seung-Hyun Kim Ah-Reum Ahn Shin-Young Yim

Congenital muscular torticollis (CMT) and craniosynostosis are diseases that cause plagiocephaly and craniofacial asymmetry in children. In our literature review, we did not find any report of concurrent manifestation of CMT and craniosynostosis. A 41-month-old boy visited our hospital with left torticollis, right laterocollis, and craniofacial asymmetry as the main findings. During clinical ex...

Background and Objective: Diabetic macular edema (DME) is one of the common complications of diabetes which significantly accounts for preventable visual impairment and blindness. Central macular thickness (CMT) is a feature found in DME patients. This study aims to determine the relationship between optical coherence tomography (OCT)-measured CMT and visual acuity (VA) in patients with DME bef...

2014
Arun Priya J. Soniya

The continuous innovations and advances in both high-end mobile devices and wireless communication technologies have increased the user demand and expectations for anywhere, anytime, any device high quality multimedia applications provisioning.we proposes CMT-QA that monitors and analyzes regularly each path’s data handling capability and makes the data delivery adaptation decisions to select t...

Journal: :Neurology 2015
Nina Hirt Katja Eggermann Sonja Hyrenbach Johann Lambeck Andreas Busche Judith Fischer Sabine Rudnik-Schöneborn Harald Gaspar

Charcot-Marie-Tooth disease type 1 A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP or tomaculous neu-ropathy, OMIM #162500) are autosomal dominantly inherited neuropathies caused by genomic rearrangements on chromosome 17p11.2-p12 containing PMP22. Heterozygous PMP22 duplications result in a peripheral neuropathy characterized by distal muscular atroph...

Journal: :Muscle & nerve 2016
Alexander M Rossor Ching-Hua Lu Axel Petzold Andreas Malaspina Matilde Laura Linda Greensmith Mary M Reilly

INTRODUCTION The negative results in trials of vitamin C in Charcot-Marie-Tooth disease (CMT) type 1A have highlighted the lack of sensitive outcome measures. Neurofilaments are abundant neuronal cytoskeletal proteins, and their concentration in blood is likely to reflect axonal breakdown. We therefore examined plasma neurofilament heavy-chain (NfH) concentration as a potential biomarker in CMT...

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