Search results for " Contracture"

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutatio…

2015

Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. Methods Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. Results Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypoh…

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

2014

International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 micro-deletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously r…

Treatment of stages IIIIV of the Dupuytrens Disease using a personal approach: percutaneous needle fasciotomy (PNF) and minimal invasive selective ap…

2013

Abstract The authors present their experience in treating 23 fingers on 20 patients affected by Dupuytrens Disease in stages III and IV of the Tubiana classification with their personal technique that involves the percutaneous needle fasciotomy followed 40 days after by a selective open aponeurectomy on the previously treated cord, by making a small cutaneous incision. The treatment requires careful selection of the patients. In fact, patients suffering from the disease for more than 5 years and all the cases with a suspicion of joint rigidity are excluded from the study. The average follow up period was approximately 48 months. 18 out of the 20 patients had excellent functional recovery. S…

Use of Solovov-Badenoch principle in treating severe and recurrent vesico-urethral anastomosis stricture after radical retropubic prostatectomy: tech…

2012

What's known on the subject? and What does the study add? Many different approaches have been used to treat bladder neck strictures and urinary incontinence after radical prostatectomy in the past. Most techniques are highly invasive and carry a high risk of complications. The present study describes the use of the Solovov-Badenoch 'pull-through urethroplasty' as well as artificial urinary sphincter implantation.• To report our experience in the management of patients with combined urinary incontinence and stricture after radical prostatectomy with a two-step approach: urethroplasty with a 'pull-through' technique after the Solovov-Badenoch principle; and artificial urinary sphincter (AUS) …

Two-stage transperineal management of posterior urethral strictures or bladder neck contractures associated with urinary incontinence after prostate …

2007

Objectives: The treatment of posterior urethral strictures or bladder neck contracture associated with severe urinary incontinence after prostate surgery and failure of endoscopic treatments is controversial. We report our experience with a transperineal approach in two steps: end-to-end urethroplasty/anastomosis and subsequent artificial urinary sphincter implantation.Methods: Between September 2001 and January 2005, we observed six patients (58-68 yr old), with a combination of severe urinary incontinence and posterior urethral stricture with anastomotic bladder neck contracture after prostate surgery. In all cases, repeated endoscopic treatments of the strictures failed. The patients und…

The “Jacobsen Flap” for the Treatment of Stages III–IV Dupuytren’s Disease: A Review of 98 Cases

2008

The treatment of severe Dupuytren’s disease of the little finger is controversial: several techniques have been described with variable reported results and postoperative complications. This paper reviews 98 cases that underwent surgery between 2001 and 2006 using the Jacobsen flap procedure, a modification of the McCash technique. We found this technique relatively simple and it allowed significant correction of the contracture, with a low rate of complication. We believe this is an excellent alternative to dermofasciectomy or amputation.

Muscle Activity Adaptations to Spinal Tissue Creep in the Presence of Muscle Fatigue.

2016

Aim The aim of this study was to identify adaptations in muscle activity distribution to spinal tissue creep in presence of muscle fatigue. Methods Twenty-three healthy participants performed a fatigue task before and after 30 minutes of passive spinal tissue deformation in flexion. Right and left erector spinae activity was recorded using large-arrays surface electromyography (EMG). To characterize muscle activity distribution, dispersion was used. During the fatigue task, EMG amplitude root mean square (RMS), median frequency and dispersion in x- and y-axis were compared before and after spinal creep. Results Important fatigue-related changes in EMG median frequency were observed during m…

G.P.1.07 Hauptmann–Tannhauser muscular dystrophy-what is it?

2008

Multiple congenital contractures (Congenital multiple arthrogryposis)

2002

Arthrogryposis, is the occurrence of joint contractures of variable etiology that start prenatally. Arthrogryposis may result from neurologic deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, [figure: see text] or fetal crowding. Arthrogryposis may result from no apparent hereditary causes (neuropathic, for example) or may be the result of hereditary factors (myopathic form, for example). Ultrasound diagnosis depends on observation of scant or absent motion of fetal extremities. Prognosis depends on the specific etiology of the contractures.

ACUTE INFANTILE SPINAL MUSCULAR ATROPHY

1990

Biopsy as well as autopsy studies of a child who died 8 weeks after birth from the acute infantile form of spinal muscular atrophy revealed classical morphological changes, including degeneration and loss of motoneurons in the spinal cord, loss of large myelinated fibres in anterior roots and neurogenic atrophy in muscle. New ultrastructural findings include massive muscle cell elimination by apoptosis with the formation of membrane-bound muscle cell fragments, apoptotic bodies. In addition, numerous immature muscle fibres were observed. The morphological findings raise the possibility that in a severely growth-retarded muscle, the process of muscle cell apoptosis removes the peripheral tar…