A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3

Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

Seqüência de moebius: Manifestações clínicas e avaliação auditiva

Introduction: Children with Moebius syndrome may present paralysis of cranial nerves III, IV, V, VI, VII, VIII, IX, X and XII, compromising motor and sensorial functions. Hands and feet defects (syndactyly, equinovarus and arthrogryposis) are frequently associated. These manifestations can be attributed to the use of misoprostol during pregnancy to induce abortion. Study design: Clinical prospective. Aim: To evaluate the main clinical manifestations, hearing acuity and possible etiologic factors in children with Moebius syndrome. Material and method: The children were submitted to clinical, otolaryngological and hearing acuity assessment. Hearing acuity was evaluated through behavioral tests, pure tone audiometry, tympanometry and auditory brainstem response (ABR). We investigated possible etiologic factors. Results: Three boys and two girls were evaluated. The main manifestations were: facial paralysis, paralysis of masseter muscle, defects in dental occlusion, retraction of tympanic membrane, equinovarus, oblique palpebral fissure and tongue atrophy. Conductive hearing loss was detected in three children and sensorineural hearing loss in one child. The use of misoprostol during pregnancy was reported by four mothers. Conclusions: The children with Moebius syndrome evaluated in the present study manifested palsies of various cranial nerves, especially V, VII and XII nerves, responsible for motor and sensorial alterations. Inadequate eustachian tube function associated to conductive hearing loss was frequent. The use of misoprostol during pregnancy was reported by the mothers and it was considered a possible etiologic factor.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Background Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that a defect of the central apical ectodermal ridge leads to the phenotype. Although six different loci/mutations (SHFM1-6) have been associated with SHFM, the underlying cause in a large number of cases is still unresolved. Methods High resolution array comparative genomic hybridisation (CGH) was performed in patients with SHFLD to detect copy number changes. Candidate genes were further evaluated for expression and function during limb development by whole mount in situ hybridisation and morpholino knock-down experiments. Results Array CGH showed microduplications on chromosome 17p13.3, a locus previously associated with SHFLD. Detailed analysis of 17 families revealed that this copy number variation serves as a susceptibility factor for a highly variable phenotype with reduced penetrance, particularly in females. Compared to other known causes for SHFLD 17p duplications appear to be the most frequent cause of SHFLD. A similar to 11.8 kb minimal critical region was identified encompassing a single gene, BHLHA9, a putative basic loop helix transcription factor. Whole mount in situ hybridisation showed expression restricted to the limb bud mesenchyme underlying the apical ectodermal ridge in mouse and zebrafish embryos. Knock down of bhlha9 in zebrafish resulted in shortening of the pectoral fins. Conclusions Genomic duplications encompassing BHLHA9 are associated with SHFLD and non-Mendelian inheritance characterised by a high degree of non-penetrance with sex bias. Knock-down of bhlha9 in zebrafish causes severe reduction defects of the pectoral fin, indicating a role for this gene in limb development.

Effect of inaccuracies in anthropometric data and linked-segment inverse dynamic modeling on kinetics of gait in persons with partial foot amputation

The accuracy of data derived from linked-segment models depends on how well the system has been represented. Previous investigations describing the gait of persons with partial foot amputation did not account for the unique anthropometry of the residuum or the inclusion of a prosthesis and footwear in the model and, as such, are likely to have underestimated the magnitude of the peak joint moments and powers. This investigation determined the effect of inaccuracies in the anthropometric input data on the kinetics of gait. Toward this end, a geometric model was developed and validated to estimate body segment parameters of various intact and partial feet. These data were then incorporated into customized linked-segment models, and the kinetic data were compared with that obtained from conventional models. Results indicate that accurate modeling increased the magnitude of the peak hip and knee joint moments and powers during terminal swing. Conventional inverse dynamic models are sufficiently accurate for research questions relating to stance phase. More accurate models that account for the anthropometry of the residuum, prosthesis, and footwear better reflect the work of the hip extensors and knee flexors to decelerate the limb during terminal swing phase.

Elective foot and ankle surgery : activity and perioperative complications in Queensland public hospitals, Australia

Objective: To conduct an audit of elective foot and ankle surgery in Queensland public hospitals and to compare the frequency of these procedures performed to other states and territories of Australia. ---------- Methods: ICD-10-AM data was used to extract elective foot and ankle procedures from the Data Services Unit of Queensland Health, and the Australian Institute of Health and Welfare between the years of 2000 and 2004. ---------- Results During the 4-year audit period 3846 primary procedures were performed during the 4-year period with a complication rate of 2.2% during the hospital admission period. Mean length of stay was 1.7 days. Post-operative infection rates were 0.26%. With the exception of Tasmania and the Northern Territory, Queensland performs the least number of elective foot and ankle procedures per capita per year in Australia. ---------- Conclusions This is the first reported audit of elective foot and ankle surgery for Queensland public hospitals. Complication rates cannot be directly compared to the literature as this data could only capture complications within hospital admission period. Fewer elective foot and ankle procedures were performed in Queensland public hospitals compared to all other mainland states of Australia during the data collection period.

An investigation of foot and ankle problems experienced by nurses

Relatively little information has been reported about foot and ankle problems experienced by nurses, despite anecdotal evidence which suggests they are common ailments. The purpose of this study was to improve knowledge about the prevalence of foot and ankle musculoskeletal disorders (MSDs) and to explore relationships between these MSDs and proposed risk factors. A review of the literature relating to work-related MSDs, MSDs in nursing, foot and lower-limb MSDs, screening for work-related MSDs, foot discomfort, footwear and the prevalence of foot problems in the community was undertaken. Based on the review, theoretical risk factors were proposed that pertained to the individual characteristics of the nurses, their work activity or their work environment. Three studies were then undertaken. A cross-sectional survey of 304 nurses, working in a large tertiary paediatric hospital, established the prevalence of foot and ankle MSDs. The survey collected information about self-reported risk factors of interest. The second study involved the clinical examination of a subgroup of 40 nurses, to examine changes in body discomfort, foot discomfort and postural sway over the course of a single work shift. Objective measurements of additional risk factors, such as individual foot posture (arch index) and the hardness of shoe midsoles, were performed. A final study was used to confirm the test-retest reliability of important aspects of the survey and key clinical measurements. Foot and ankle problems were the most common MSDs experienced by nurses in the preceding seven days (42.7% of nurses). They were the second most common MSDs to cause disability in the last 12 months (17.4% of nurses), and the third most common MSDs experienced by nurses in the last 12 months (54% of nurses). Substantial foot discomfort (Visual Analogue Scale (VAS) score of 50mm or more) was experienced by 48.5% of nurses at sometime in the last 12 months. Individual risk factors, such as obesity and the number of self-reported foot conditions (e.g., callouses, curled toes, flat feet) were strongly associated with the likelihood of experiencing foot problems in the last seven days or during the last 12 months. These risk factors showed consistent associations with disabling foot conditions and substantial foot discomfort. Some of these associations were dependent upon work-related risk factors, such as the location within the hospital and the average hours worked per week. Working in the intensive care unit was associated with higher odds of experiencing foot problems within the last seven days, foot problems in the last 12 months and foot problems that impaired activity in the last 12 months. Changes in foot discomfort experienced within a day, showed large individual variability. Fifteen of the forty nurses experienced moderate/substantial foot discomfort at the end of their shift (VAS 25+mm). Analysis of the association between risk factors and moderate/substantial foot discomfort revealed that foot discomfort was less likely for nurses who were older, had greater BMI or had lower foot arches, as indicated by higher arch index scores. The nurses’ postural sway decreased over the course of the work shift, suggesting improved body balance by the end of the day. These findings were unexpected. Further clinical studies examining individual nurses on several work shifts are needed to confirm these results, particularly due to the small sample size and the single measurement occasion. There are more than 280,000 nurses registered to practice in Australia. The nursing workforce is ageing and the prevalence of foot problems will increase. If the prevalence estimates from this study are extrapolated to the profession generally, more than 70,000 hospital nurses have experienced substantial foot discomfort and 25-30,000 hospital nurses have been limited in their activity due to foot problems during the last 12 months. Nurses with underlying foot conditions were more likely to report having foot problems at work. Strategies to prevent or manage foot conditions exist and they should be disseminated to nurses. Obesity is a significant risk factor for foot and ankle MSDs and these nurses may need particular assistance to manage foot problems. The risk of foot problems for particular groups of nurses, e.g. obese nurses, may vary depending upon the location within the hospital. Further research is needed to confirm the findings of this study. Similar studies should be conducted in other occupational groups that require workers to stand for prolonged periods.

The Foot Heath Status Questionnaire : correct scale score calculation

This letter is in response to the recently published article “Evaluation of two self-referent foot health instruments” by Robert Trevethan (RT) and is in regard to the scale scores he derived when using the quality of life measure, the Foot Health Status Questionnaire [1]. Unfortunately, the journal reviewers and editor did not identify, or address, a fundamental flaw in the methodology of this paper. Subsequently, the inference drawn from this paper could, in all reasonableness, mislead the reader

Development and validation of a questionnaire designed to measure foot-health status

The aim of this study was to apply the principles of content, criterion, and construct validation to a new questionnaire specifically designed to measure foot-health status. One hundred eleven subjects completed two different questionnaires designed to measure foot health (the new Foot Health Status Questionnaire and the previously validated Foot Function Index) and underwent a clinical examination in order to provide data for a second-order confirmatory factor analysis. Presented herein is a psychometrically evaluated questionnaire that contains 13 items covering foot pain, foot function, footwear, and general foot health. The tool demonstrates a high degree of content, criterion, and construct validity and test-retest reliability.

Land buyers likely to foot reform costs

Article in Courier Mail. Friday July 22, 2011.

The reliability, accuracy and minimal detectable difference of a multi-segment kinematic model of the foot-shoe complex

Kinematic models are commonly used to quantify foot and ankle kinematics, yet no marker sets or models have been proven reliable or accurate when wearing shoes. Further, the minimal detectable difference of a developed model is often not reported. We present a kinematic model that is reliable, accurate and sensitive to describe the kinematics of the foot–shoe complex and lower leg during walking gait. In order to achieve this, a new marker set was established, consisting of 25 markers applied on the shoe and skin surface, which informed a four segment kinematic model of the foot–shoe complex and lower leg. Three independent experiments were conducted to determine the reliability, accuracy and minimal detectable difference of the marker set and model. Inter-rater reliability of marker placement on the shoe was proven to be good to excellent (ICC = 0.75–0.98) indicating that markers could be applied reliably between raters. Intra-rater reliability was better for the experienced rater (ICC = 0.68–0.99) than the inexperienced rater (ICC = 0.38–0.97). The accuracy of marker placement along each axis was <6.7 mm for all markers studied. Minimal detectable difference (MDD90) thresholds were defined for each joint; tibiocalcaneal joint – MDD90 = 2.17–9.36°, tarsometatarsal joint – MDD90 = 1.03–9.29° and the metatarsophalangeal joint – MDD90 = 1.75–9.12°. These thresholds proposed are specific for the description of shod motion, and can be used in future research designed at comparing between different footwear.

Recommendations for the reporting of foot and ankle models

Multiple marker sets and models are currently available for assessing foot and ankle kinematics in gait. Despite the presence of such a wide variety of models, the reporting of methodological designs remains inconsistent and lacks clearly defined standards. This review highlights the variability found when reporting biomechanical model parameters, methodological design, and model reliability. Further, the review clearly demonstrates the need for a consensus of what methodological considerations to report in manuscripts, which focus on the topic of foot and ankle biomechanics. We propose five minimum reporting standards, that we believe will ensure the transparency of methods and begin to allow the community to move towards standard modelling practice. The strict adherence to these standards should ultimately improve the interpretation and clinical useability of foot and ankle marker sets and their corresponding models.