			Home About us Contact

Foot Deformity (foot + deformity)

Distribution by Scientific Domains

Medical Sciences	85%

Selected Abstracts

Maternal nickel exposure and congenital musculoskeletal defects

AMERICAN JOURNAL OF INDUSTRIAL MEDICINE, Issue 11 2008
Vaktskjold Arild DrScient
Abstract Objective To investigate whether women occupationally exposed to nickel in early pregnancy are at elevated risk of delivering a newborn with a malformation or deformation of the musculoskeletal system (ICD-10: Q65-Q79). Methods Data about the newborn, maternal occupation and workplace were obtained using the Kola Birth Register (KBR). Each record in the KBR was assigned a categorical nickel (Ni) exposure rating according to the occupation the delivering woman had at the time of becoming pregnant. This was achieved by using as a guideline the water-soluble Ni subfraction of the inhalable aerosol fraction obtained by personal monitoring for nickel- and copper-refinery workers or/and measured urinary-Ni concentrations. The reference population was delivering women from the source population with background exposure level. In total, the study population consisted of 22,965 births. Results Three hundred and four infants (13.3/1,000 births; 95% confidence interval (CI): 11.9,14.7) were diagnosed with isolated musculoskeletal defect(s) at birth. The adjusted odds ratio for the association between the maternal exposure to Ni and this outcome was 0.96 (95% CI: 0.76,1.21) per unit increase in exposure category. Conclusion The incidence of defects in the musculoskeletal system at birth was high, especially for feet deformities, but we found no effect of maternal exposure to water-soluble Ni on the risk of delivering a newborn with a defect. However, the incidence among women working in the copper refinery was higher than in the other employment groups. Am. J. Ind. Med. 51:825-833, 2008. © 2008 Wiley-Liss, Inc. [source]

Homozygous Defects In Lmna, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy In Human (Charcot-Marie-Tooth Disorder Type 2) And Mouse

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 3 2002
A De Sandre-Giovannoli
The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically heterogeneous hereditary motor and sensory neuropathies, which are mainly characterized by muscle weakness and wasting, foot deformities, and electrophysiological, as well as histological, changes. A subtype, CMT2, is defined by a slight or absent reduction of nerve-conduction velocities together with the loss of large myelinated fibers and axonal degeneration. CMT2 phenotypes are also characterized by a large genetic heterogeneity, although only two genes-NF-L and KIF1Bbeta-have been identified to date. Homozygosity mapping in inbred Algerian families with autosomal recessive CMT2 (AR-CMT2) provided evidence of linkage to chromosome 1q21.2-q21.3 in two families (Z(max) = 4.14). All patients shared a common homozygous ancestral haplotype that was suggestive of a founder mutation as the cause of the phenotype. A unique homozygous mutation in LMNA (which encodes lamin A/C, a component of the nuclear envelope) was identified in all affected members and in additional patients with CMT2 from a third, unrelated family. Ultrastructural explor- ation of sciatic nerves of LMNA null (i.e., ,/,) mice was performed and revealed a strong reduction of axon density, axonal enlargement, and the presence of nonmyelinated axons, all of which were highly similar to the phenotypes of human peripheral axonopathies. The finding of site-specific amino acid substitutions in limb-girdle muscular dystrophy type 1B, autosomal dominant Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy type 1A, autosomal dominant partial lipodystrophy, and, now, AR-CMT2 suggests the existence of distinct functional domains in lamin A/C that are essential for the maintenance and integrity of different cell lineages. To our knowledge, this report constitutes the first evidence of the recessive inheritance of a mutation that causes CMT2; additionally, we suggest that mutations in LMNA may also be the cause of the genetically overlapping disorder CMT2B1. [source]

Novel MPZ Mutation In A Sporadic CMT Patient

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2001
E Bellone
Mutations in the gene for the major structural protein component of peripheral nerve myelin, myelin protein zero (MPZ), are associated with some forms of hereditary neuropathies such as Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). The common pathological characteristics of these allelic disorders are severe demyelination and remyelination of peripheral nerves. Recently, MPZ mutations were also found in patients with the axonal form of CMT neuropathy (CMT2). We studied a patient with negative familiar history and clinical and electrophysiological features of Charcot-Marie-Tooth disease: distal muscle weakness and atrophy, foot deformities (pes cavus), and severely reduced nerve conduction velocities in the motor and sensory nerves. The sural nerve biopsy showed marked loss of myelinated fibers, few onion bulbs, and a high percentage of fibers showing excessive myelin outfoldings. DNA analysis excluded CMT1A duplication by Southern blot and by pulsed field gel electrophoresis methods. SSCP analysis of all six exons of MPZ revealed a shift band in exon 2 in the patient's DNA. No such difference was detected in normal controls. Direct sequencing disclosed a G , A transition at nucleotide position 181. This base substitution predicts the replacement of aspartic acid with asparagine at codon 61. A mutation at the same codon (but different amino acid replacement) was recently identified in a family with the axonal type of CMT, in which the disease was autosomal dominantly inherited. This finding provides further confirmation of the role of MPZ gene in peripheral neuropathies and suggests that MPZ coding region mutations may account for a considerable number of CMT cases which do not involve DNA duplication on 17p11.2-p12. This research was partially supported by a MURST and an Ateneo grant to FA, by a Ministero della Sanità grant to PM. Our laboratory is a member of the European Charcot-Marie-Tooth Consortium co-ordinated by Prof. Christine Van Broeckhoven. [source]

Plantar pressures in diabetic patients with foot ulcers which have remained healed

DIABETIC MEDICINE, Issue 11 2009
T. M. Owings
Abstract Aims, The recurrence of foot ulcers is a significant problem in people with diabetic neuropathy. The purpose of this study was to measure in-shoe plantar pressures and other characteristics in a group of neuropathic patients with diabetes who had prior foot ulcers which had remained healed. Methods, This was an epidemiological cohort study of patients from diabetes clinics of two Swedish hospitals. From a database of 2625 eligible patients, 190 surviving patients with prior plantar ulcers of the forefoot (hallux or metatarsal heads) caused by repetitive stress were identified and 49 patients agreed to participate. Barefoot and in-shoe plantar pressures were measured during walking. Data on foot deformity, activity profiles and self-reported behaviour were also collected. Results, Mean barefoot plantar peak pressure at the prior ulcer site (556 kPa) was lower than in other published series, although the range was large (107,1192 kPa). Mean in-shoe peak pressure at this location averaged 207 kPa when measured with an insole sensor. Barefoot peak pressure only predicted ,35% of the variance of in-shoe peak pressure, indicating variation in the efficacy of the individual footwear prescriptions (primarily extra-depth shoes with custom insoles). Conclusions, We propose that the mean value for in-shoe pressures reported in these patients be used as a target in footwear prescription for patients with prior ulcers. Although plantar pressure is only one factor in a multifaceted strategy to prevent ulcer recurrence, the quantitative focus on pressure reduction in footwear is likely to have beneficial effects. [source]

Avascular necrosis not Charcot's

DIABETIC MEDICINE, Issue 10 2001
Y. P. Samarasinghe
Abstract Background, A case of avascular necrosis (AN) of the navicular bone, in a 24-year-old woman with Type 1 diabetes with peripheral neuropathy, in the absence of any history of direct trauma is presented. The clinical and radiological features at presentation suggested an evolving Charcot arthropathy (CA), but subsequent serial X-rays clearly confirmed AN. Conclusions Swelling and foot deformity in association with long-standing diabetic peripheral neuropathy is suggestive of CA, although AN, a less common condition, may show the same clinical features. It is therefore important to undertake further confirmatory radiological investigations if there is any doubt about the diagnosis. Diabet. Med. 18, 846,848 (2001) [source]

A foot deformity from a Romano-British cemetery at Gloucester, England, and the current evidence for talipes in palaeopathology

INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 5 2004
C. A. Roberts
Abstract A male skeleton from the Romano-British site at Kingsholm, Gloucester, is described with abnormalities in the humerus, femur, tibia, fibula and foot. Computed tomography of the femora to enable cross-sectional analysis suggested altered normal gait to compensate for the deformity. Differential diagnoses are considered and a diagnosis of clubfoot deformity is suggested. Palaeopathological evidence for clubfoot is rare in the literature but the cases reported to date are reviewed. Copyright © 2004 John Wiley & Sons, Ltd. [source]

A survey of foot problems in juvenile idiopathic arthritis

MUSCULOSKELETAL CARE, Issue 4 2008
G. Hendry BSc(Hons)
Abstract Background:,Evidence suggests that foot problems are common in juvenile idiopathic arthritis (JIA), with prevalence estimates over 90%. The aim of this survey was to describe foot-related impairment and disability associated with JIA and foot-care provision in patients managed under modern treatment paradigms, including disease-modifying anti-rheumatic drugs (DMARDs) and biologic therapies. Methods:,The Juvenile Arthritis Foot Disability Index (JAFI), Child Health Assessment Questionnaire (CHAQ), and pain visual analogue scale (VAS) were recorded in 30 consecutive established JIA patients attending routine outpatient clinics. Foot deformity score, active/limited joint counts, walking speed, double-support time (s) (DS) and step length symmetry index % (SI) were also measured. Foot-care provision in the preceding 12 months was determined from medical records. Results:,Sixty-three per cent of children reported some foot impairment, with a median (range) JAFI subscale score of 1 (0,3); 53% reported foot-related activity limitation, with a JAFI subscale score of 1 (0,4); and 60% reported participation restriction, with a JAFI subscale score of 1 (0,3). Other reported variables were CHAQ 0.38 (0,2), VAS pain 22 (0,79), foot deformity 6 (0,20), active joints 0 (0,7), limited joints 0 (0,31), walking speed 1.09,m/s (0.84,1.38,m/s), DS 0.22,s (0.08,0.26,s) and SI ±4.0% (±0.2,±31.0%). A total of 23/30 medical records were reviewed and 15/23 children had received DMARDS, 8/23 biologic agents and 20/23 multiple intra-articular corticosteroid injections. Ten children received specialist podiatry care comprising footwear advice, orthotic therapy and silicone digital splints together with intrinsic muscle strengthening exercises. Conclusion:,Despite frequent use of DMARD/biologic therapy and specialist podiatry-led foot care, foot-related impairment and disability persists in some children with JIA. Copyright © 2008 John Wiley & Sons, Ltd. [source]