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Abstract: We report the development of a module specifically designed for assessing upper limb function in nonambulant SMA patients, including young children and those with severe contractures. The application of the module to a preschool cohort of 40 children (age 30–48 months) showed that all the items could be completed by 30 months. The module was also used in 45 nonambulant SMA patients (age 30 months to 27 years). Their scores were more variable than in the preschool cohort, ranging from 0 to 18. The magnitude of scores was not related to age (r =−0.19). The upper limb scores had a good correlation with the Hammersmith Functional Motor Scale, r =0.75, but the upper limb function did not always strictly follow the overall gross motor function. These findings suggest that even some of the very weak nonambulant children possess upper limb skills that can be measured. [Copyright &y& Elsevier]

The role of extrinsic and intrinsic factors in control of arm movement direction remains under debate. We addressed this question by investigating preferences in selection of movement direction and whether factors causing these preferences have extrinsic or intrinsic nature. An unconstrained freestroke drawing task was used during which participants produced straight strokes on a horizontal table, choosing the direction and the beginning and end of each stroke arbitrarily. The variation of the initial arm postures across strokes provided a possibility to distinguish between the extrinsic and intrinsic origins of directional biases. Although participants were encouraged to produce strokes equally in all directions, each participant demonstrated preferences for some directions over the others. However, the preferred directions were not consistent across participants, suggesting no directional preferences in extrinsic space. Consistent biases toward certain directions were revealed in intrinsic space representing initial arm postures. Factors contributing to the revealed preferences were analyzed within the optimal control framework. The major bias was explained by a tendency predicted by the leading joint hypothesis (LJH) to minimize active interference with interaction torque generated by shoulder motion at the elbow. Some minor biases may represent movements of minimal inertial resistance or maximal kinematic manipulability. These results support a crucial role of intrinsic factors in control of the movement direction of the arm. Based on the LJH interpretation of the major bias, we hypothesize that the dominant tendency was to minimize neural effort for control of arm intersegmental dynamics. Possible organization of neural processes underlying optimal selection of movement direction is discussed. [ABSTRACT FROM AUTHOR]

There are a number of people living with late effects of polio, but the extent of engagement with the upper extremity is unclear. The objective is to describe the polio involvement in persons attending the polio clinic and to assess the perceived problems in self-reported arm/hand function. A 1-year sample of consecutively examined community-dwelling people at the polio clinic. Electromyography and muscle strength were assessed as part of the clinical examination. A questionnaire regarding perceived problems in different activities involving arm/hand function was sent out prior to appointment and brought to the clinic. A total of 186 persons were seen, and the majority was women (65%). The average age at examination was 60 years (SD 14), and the acute polio illness had occurred at 5 years of age (SD 7). Post-polio syndrome was present in 96%. Polio involvement in the upper extremities was seen in the majority, and this was often clinically unstable. Perceptions of problems in arm/hand activities did not always correlate with having had polio in the upper extremity or with mode of mobility. However, the grip force correlated significantly with the number of perceived problems. Bi-manual activities were more often perceived problematic. Polio involvement in the upper extremity is very common. There were no obvious correlations with the objective findings of polio and perceived problems. The polio survivors' adaptation requires more questions and assessments from the professional team to identify those with a possible need for intervention. [ABSTRACT FROM AUTHOR]

Abstract: Objective: This study determined the variability and regularity of force production in impaired upper extremities of chronic stroke survivors. Two hypotheses included: (1) stroke will increase the variability and regularity of force output in comparison to age-matched controls and (2) degree of motor impairments will be positively correlated with the variability and regularity of force output. Methods: Nine chronic stroke and nine age-matched controls performed unimanual isometric wrist and finger extension movements for 20s to three different target force levels. Force output was indexed by magnitude, accuracy, variability, and regularity. Stroke motor impairment levels were determined by Fugl-Meyer upper extremity assessment. Results: The stroke group demonstrated increased variability and regularity of the force output. Further, motor impairments scaled with increase in variability and regularity of force output. Conclusions: The variability and regularity of force differentiated isometric contractions performed by chronic stroke survivors from age-matched controls. Moreover, in clinical settings an objective assessment of force control on variability and regularity appears to be most meaningful at 25% of MVC. Significance: Increased variability contributes to reduced steadiness in force output. Increased regularity characterizes the adaptability losses in motor capabilities following stroke. This knowledge may facilitate planning and evaluating rehabilitation protocols. [ABSTRACT FROM AUTHOR]

the anthropometric profile of Indian computer students and, second, to search the correlation of hand grip strength with other anthropometric characteristics studied. Methods: Fourteen anthropometric characteristics; viz. height, sitting height, weight, BMI, knee height, thigh height, leg length, bi-trochantric diameter, waist and hip circumferences, percent body fat, percent lean body mass, hand grip strength (right dominant) and back strength were measured on purposively selected 208 Indian computer students (108 males,100 females) ages 18-25 years (mean 21.67 years, ± 1.61) collected from Guru Nanak Dev University, Amritsar, Punjab, India. An adequate number of non-computer users (n = 208, 108 males,100 females, mean age 21.72 years, ± 1.69) were also collected as controls from the same location for comparison. Results: One way ANOVA showed significant differences among the groups (p= .001 - .000) in the variables studied, except the hip circumference, in computer students and controls. In Indian computer students, significant positive correlations (p= .05 - .01) were found in hand grip strength and height, sitting height, leg length, back strength (in both sexes), knee height (females only), weight, BMI, bi-trochantric diameter, waist circumference, hip circumference, % body fat and % lean body mass (males only). Conclusion: Despite the higher BMI status, Indian computer students had both lower handgrip strength and back strength than their control counterparts, possibly linked to their poor physical activity in work stations. [ABSTRACT FROM AUTHOR]

Professional tennis players (TP) have marked inter-arm asymmetry in bone mass (BMC) and density (BMD). To determine if this asymmetry is influenced by training frequency and volume, we studied 24 young tennis players (mean age 10.6 years, Tanner 1-2), 17 physically active control boys (CG) and ten male professional tennis players. Young TP were divided into two groups depending on the number of training days per week (TP5: 5 days/week, n = 10; TP2: 2 days/week, n = 14). In young TP, the dominant arm (DA) compared to the non-dominant arm (NDA) had greater lean mass (TP5, 13.3 +/- 2.0% and TP2, 8.3 +/- 1.3%), BMC (TP5, 22.4 +/- 4.1% and TP2, 12.1 +/- 2.2%), bone area (TP5, 15.6 +/- 3.3% and TP2, 7.9 +/- 2.2%) and BMD (TP5, 4.6 +/- 1.5% and TP2, 3.8 +/- 0.6%). Inter-arm asymmetry in lean mass, BMC and bone area was greater in TP5 than TP2, being related to the number of weekly hours devoted to tennis (r = 0.45-52, P < 0.05). No significant differences in lumbar spine or femoral neck BMC or BMD were observed between TP5, TP2 and CG. In professional TP, the DA had 18, 32, 11 and 15% greater lean mass, BMC, bone area and BMD than the NDA. Thus, TP5 had 69% of the inter-arm asymmetry in BMC observed in professional TP and a similar inter-arm asymmetry in bone area, although this comparison may not be generalisable. Young tennis players have increased BMC, bone area and lean mass in dominant arm, which magnitude depends on the number of weekly hours devoted to tennis. [ABSTRACT FROM AUTHOR]

Abstract: The objective of this study was to characterize normal temporal–spatial patterns during the Reach & Grasp Cycle and to identify upper limb motor deficits in children with cerebral palsy (CP). The Reach & Grasp Cycle encompasses six sequential tasks: reach, grasp cylinder, transport to self (T 1), transport back to table (T 2), release cylinder, and return to initial position. Three-dimensional motion data were recorded from 25 typically developing children (11 males, 14 females; ages 5–18 years) and 12 children with hemiplegic CP (2 males, 10 females; ages 5–17 years). Within-day and between-day coefficients of variation for the control group ranged from 0 to 0.19, indicating good repeatability of all parameters. The mean duration of the Cycle for children with CP was nearly twice as long as controls, 9.5±4.3s versus 5.1±1.2s (U =37.0, P =.002), partly due to prolonged grasp and release durations. Peak hand velocity occurred at approximately 40% of each phase and was greater during the transport (T 1, T 2) than non-transport phases (reach, return) in controls (P <.001). Index of curvature was lower during transport versus non-transport phases for all children. Children with CP demonstrated an increased index of curvature during reach (U =46.0, P =.0074) and an increased total number of movement units (U =16.5, P <.0001) compared to controls, indicating less efficient and less smooth movements. Total duration of the Reach & Grasp Cycle (rho=.957, P <.0001), index of curvature during reach and T 1 (rho=.873, P =.0002 and rho=.778, P =.0028), and total number of movement units (rho=.907, P <.0001) correlated strongly with MACS score. The consistent normative data and the substantial differences between children with CP and controls reflect utility of the Reach & Grasp Cycle for quantitative evaluation of upper limb motor deficits. [Copyright &y& Elsevier]

Objective: This study has been conducted to reveal genetically-determined factors that underlie the development of congenital limb anomalies among a sample of Egyptian infants and children. These data might prove useful in taking preventive measures and/or providing proper counseling to concerned families. Subjects and Methods: The study comprised studying 140 (One hundred and forty) Egyptian children with congenital limb anomalies. They consisted of (98) males and (42) females ranging in age from 10 days to 18 years. All cases were selected from among patients attending the outpatient medical genetics clinic, faculty of medicine, Ain-Shams university, Cairo-Egypt. Enrolled cases were subjected to a list of investigations including complete history with pedigree construction, anthropometric measurements and full clinical examination. In addition, specific radio-imaging studies and laboratory investigations were done for cases necessitating further diagnostic workup. Results: The results of the study revealed that isolated limb anomalies were found in (55) patients representing (39.3%) of cases. The remaining eighty five (85) patients constituting (60.7%) of enrolled cases comprised two groups: those with limb defects as part of a well defined genetic syndrome (Syndromic limb defects) (76 patients - 54.3%) and those with limb defects as part of a chromosomal aberration syndrome (9 patients - 6.4%). Genealogical data of the study revealed that parental consanguinity is found in (47.3%) of cases with isolated limb defects, in (72.3%) of cases with syndromic limb defects and in (44.4%) of cases with limb defects due to chromosomal abnormalities. Valid history of prenatal drug intake by the mother was found in (43.6%) of cases with isolated limb defects, in (25%) of syndromic limb defects and in none of the cases with chromosomal abnormalities. Conclusions: Detailed analysis of data of the study drew useful recommendations regarding many aspects like the possibility of prenatal diagnosis of most cases as well as the availability of many curative and/or palliative intervention measures for early detected and managed cases. Of prime importance, however, is the urgent need of alerting gynecologists and obstetricians taking care of pregnant women to the important role played by iatrogenic prescription of drugs during pregnancy in causation of many types of congenital limb anomalies. Cessation of this non-based evidence medical attitude is necessary and can result in a significant reduction in drug-induced congenital limb anomalies among newborns. [ABSTRACT FROM AUTHOR]

Background: Essential tremor (ET) has recently been accepted as a heterogeneous disorder which may be associated with synuclein pathology or a variety of other genetic disorders. Methods: We observed decreased arm swing frequency in 18 of 136 definite ET patients, and recorded the associated arm movements in 18 ET patients and 33 sex- and age-matched healthy controls. Results: The mean frequency of the right arm (p = 0.047), left arm (p = 0.025) and leg (p = 0.030), and the mean arm/leg frequency on the right side (p = 0.048) were significantly lower in ET patients. The mean frequencies for both arms and legs were significantly lower for the more affected side of the body (p = 0.034 and p = 0.036, respectively). Conclusion: We conclude that ET may be associated with decreased arm and leg swing frequencies, especially on the more affected side of the body. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background. Except for lymphedema, the consequences of arm/shoulder problems (ASPs), at long-term in breast cancer survivors (BCSs) have hardly been studied. We examined demography, lifestyle, quality of life (QoL) and somatic morbidity in BCSs with and without ASPs. We also compared the associations of restricted shoulder abduction and lymphedema with QoL. Methods. We used a cross-sectional case-control design. A sample of 256 BCSs all with lymph node metastases were examined at a mean of 4.1 (SD 0.9) years post-surgery. Based on objective examinations and self-rating the sample were separated into 81 BCSs (32%) with definite ASP (ASP+ group) and 175 (68%) with minimal or no ASP (ASP− group). The self-rating contained among other schedules the Short Form-36 (SF-36) and the Kwan's arm/shoulder problem scale (KAPS). Results. In univariate analysis ASP+ was associated with not being employed, having had mastectomy, longer follow-up time, radiotherapy to axilla, poorer self-rated health and physical condition, minimal physical activity, increased body mass index, regularly intake of analgesics, and poorer physical QoL. Multivariate analysis showed that mastectomy, longer follow-up time, minimal physical activity and poorer physical QoL were associated with belonging to ASP+ group. All domains of the SF-36 were significantly associated with having impaired shoulder abduction (≥25° difference) while none of the associations with lymphedema were significant. Discussion. In BCSs, at four years after treatment, having ASP was associated with mastectomy, minimal physical activity and poorer physical QoL. Poor physical QoL is strongly associated with reduced shoulder abduction rather than with lymphedema. [ABSTRACT FROM AUTHOR]

Abstract: The aim of this study was to evaluate thumb postures, thumb movements and muscle activity when using mobile phones for SMS messaging and to determine whether there were differences in these exposures (a) across various mobile phone tasks, (b) between gender and (c) between subjects with and without musculoskeletal symptoms in shoulders and upper extremities. Fifty-six young adults (15 healthy and 41 with musculoskeletal symptoms) performed a series of distinct tasks on a mobile phone. Muscular load in four forearm/hand muscles in the right arm and the right and left trapezius muscles were measured using electromyography (EMG). Thumb movements were registered using an electrogoniometer. The results showed that postures (sitting or standing) and the type of mobile phone task (holding the phone versus texting) affected muscle activity and thumb positions. Females compared to males had higher muscle activity in the extensor digitorum and the abductor pollicis longus when entering SMS messages and tended to have greater thumb abduction, higher thumb movement velocities and fewer pauses in the thumb movements. Subjects with symptoms had lower muscle activity levels in the abductor pollicis longus and tended to have higher thumb movement velocities and fewer pauses in the thumb movements compared to those without symptoms. [Copyright &y& Elsevier]

Abstract Objective  Proximal radioulnar synostosis is a rare upper limb malformation. The elbow is first identifiable at 35 days (after conception), at which stage the cartilaginous anlagen of the humerus, radius and ulna are continuous. Subsequently, longitudinal segmentation produces separation of the distal radius and ulna. However, temporarily, the proximal ends are united and continue to share a common perichondrium. We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality. Materials and methods  Records were searched for “proximal radioulnar fusion/posterior radial head dislocation” in patients followed at the local Children’s Hospital and Rehabilitation Centre for Children. Relevant radiographic, demographic and clinical data were recorded. Ethics approval was obtained through the University Research Ethics Board. Results  In total, 28 patients met the inclusion criteria. The majority of patients (16) had bilateral involvement; eight with posterior dislocation of the radial head only; five had posterior radial head dislocation with radioulnar fusion and two had radioulnar fusion without dislocation. One patient had bilateral proximal radioulnar fusion and posterior dislocation of the left radial head. Nine patients had only left-sided involvement, and three had only right-sided involvement.The degree of proximal fusion varied, with some patients showing ‘complete’ proximal fusion and others showing fusion that occurred slightly distal to the radial head: ‘partially separated.’ Associated disorders in our cohort included Poland syndrome (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz syndactyly. Conclusion  The suggestion of a developmental relationship between posterior dislocation of the radial head and proximal radioulnar fusion is supported by the fact that both anomalies can occur in the same patient. Furthermore, both anomalies can be seen in different patients with the same genetic diagnosis, further supporting the notion that these defects are developmentally related. Posterior dislocation of the radial head and radioulnar fusion are considered to be related primary developmental anomalies of radioulnar differentiation/segmentation. We speculate that the eventual specific defect of this spectrum is influenced by very subtle differences in developmental timing. This is in contrast to patients with transverse forearm defects who can also display radial head dislocation but in an anterior or lateral direction. This direction of dislocation is seen when an abnormal force is exerted on a normally formed radial head later in development or postnatally in disorders such as multiple osteochondromatosis and various mesomelic dysplasias, or as a result of trauma. [ABSTRACT FROM AUTHOR]

Background: In both clinical and occupational settings, ambulatory sensors are becoming common for assessing all day measurements of arm motion. In order for the motion of a healthy, contralateral side to be used as a control for the involved side, the inherent side to side differences in arm usage must be minimal. The goal of the present study was to determine the reliability of side to side measurements of upper extremity activity levels in healthy subjects. Methods: Thirty two subjects with no upper extremity pathologies were studied. Each subject wore a triaxial accelerometer on both arms for three and a half hours. Motion was assessed using parameters previously reported in the literature. Side to side differences were compared with the intraclass correlation coefficient, standard error of the mean, minimal detectable change scores and a projected sample size analysis. Results: The variables were ranked based on their percentage of minimal detectable change scores and sample sizes needed for paired t-tests. The order of these rankings was found to be identical and the top ranked parameters were activity counts per hour (MDC% = 9.5, n = 5), jerk time (MDC% = 15.8, n = 8) and percent time above 30 degrees (MDC% = 34.7, n = 9). Conclusions: In general, the mean activity levels during daily activities were very similar between dominant and non-dominant arms. Specifically, activity counts per hour, jerk time, and percent time above 30 degrees were found to be the variables most likely to reveal significant difference or changes in both individuals and groups of subjects. The use of ambulatory measurements of upper extremity activity has very broad uses for occupational assessments, musculoskeletal injuries of the shoulder, elbow, wrist and hand as well as neurological pathologies. [ABSTRACT FROM AUTHOR]

We report a case of a 31-year-old pregnant woman who was admitted to our perinatology outpatient clinic because of a fetal ventricular septal defect and limb reduction in the upper extremities of fetus revealed by ultrasonographic investigation diagnosed in the 16th week of gestation. First child of the family was diagnosed with Holt-Oram syndrome who had atrial septal defect and upper limb anomalies, whereas the father was documented to have arrhythmia and shortening of upper limbs. The pregnancy was terminated in the 16th week of gestation with the consent of the family. We performed mutation analysis in T-box transcription factor-5 (TBX5) gene coding exons, including exon/intron boundaries from peripheral blood or skin fibroblasts. The sequence analysis revealed c.241 adenine (A)>thymine (T) [p. arginine (Arg) 81 Tryptophan (Trp)] alteration in exon-3 of the TBX5 gene in affected family members and fetus. This is a novel mutation causing Holt-Oram syndrome. [ABSTRACT FROM AUTHOR]

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 "protein-producing" mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association. [ABSTRACT FROM AUTHOR]

TBX5 is a T-box transcriptional factor required for cardiogenesis and limb development. TBX5 mutations cause Holt-Oram syndrome characterized by congenital heart defects and upper limb deformations. Here we establish a novel function for TBX5 in pre-mRNA splicing, and we show that this function is relevant to the pathogenesis of Holt-Oram syndrome, providing a novel pathogenic mechanism for the disease. Proteomics in combination with affinity purification identifies splicing factor SC35 as a candidate TBX5-associating protein. Co-immunoprecipitation and glutathione S-transferase pulldown assays confirm the complex formation between TBX5 and SC35. TBX5 can bind to RNA homopolymers (polyribonucleotides) and to the 5'-splice site, which overrides the binding of SC35 to the same RNA. Overexpression of TBX5 increases the efficiency of pre-mRNA splicing and regulates alternative splice site selection. However, co-expression of TBX5 and SC35 antagonizes each other's positive effect on splicing. The most severe TBX5 mutation, G80R, with complete penetrance of the cardiac phenotype, strongly affects pre-mRNA splicing, whereas other mutations with incomplete penetrance of the cardiac phenotype, including R237Q do not alter the splicing activity of TBXS. This study establishes TBX5 as the first cardiac gene and the first human disease gene with dual roles in both transcriptional activation and pre-mRNA splicing. [ABSTRACT FROM AUTHOR]

The article presents a study which describes the intensity, prevalence, and functional impact of the different types of pain associated with the loss of upper limb which include the residual limb and phantom limb. The study was conducted through cross-sectional survey of 104 respondents who loss their upper limbs. Results of the study show that nearly all the respondents reported pain.

Background/aim: The aim of this paper is to describe the use of a structured interview methodology, the repertory grid technique, for investigating the clinical reasoning of an experienced occupational therapist in the domain of upper limb hypertonia as a result of brain injury. Method: Repertory grid interviews were completed before and after exposure to a protocol designed to guide clinical reasoning and decision-making in relation to upper limb neurological rehabilitation. Data were subjected to both qualitative and quantitative analyses. Results: Qualitative analysis focussed on clinical reasoning content. Common themes across the pre- and post-exposure interviews were the use of theoretical frameworks and practice models, the significance of clinical expertise, and discrimination of ‘broad’ and ‘specific’ aspects, as well as differentiation between ‘therapist and client-related’ aspects of the clinical situation. Quantitative analysis indicated that for both pre- and post-exposure repertory grids, clinical reasoning was structured in terms of two main concepts. In the pre-exposure grid, these were related to the therapist's role, and to the ‘scope’ of practice tasks (either broad or specific). In the post-exposure grid the two main concepts were upper limb performance, and client-centred aspects of the therapy process. Conclusions: The repertory grid technique is proposed as an effective tool for exploring occupational therapy clinical reasoning, based on its capacity for accessing personal frames of reference, and elucidating both the meaning and the structure supporting clinical reasoning. [ABSTRACT FROM AUTHOR]

Summary: Launois-Bensaude syndrome is a rare pathology. The presence of multiple, symetric, non encapsulated lipomatous masses in the face, neck, upper arms and upper trunk is typical. Men are especially affected between age of 35 and 50. The disease is frequently associated with alcoholism, hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways, requiring thorough clinical evaluation of all patients. Cosmetic deformity and compression lead patients to seek treatment. Therapy is difficult. Dietary treatment and weight loss are of limited value in the management of this pathology. Surgery is the only effective treatment. The surgeon must make sure that the patient has ceased his alcohol abuse before performing this treatment. Conventional surgery or liposuction are used to restore a normal social life to these patients, deformed by their disease. This surgical management has a severe tendency to haemorrhage, dissection is complicated by infiltrations of neighbouring tissue and is frequently followed by recurrence, mainly after liposuction. Nevertheless, based on a review of ten cases, good results of surgical removal must prompt to operate them on. [Copyright &y& Elsevier]

Abstract: Impaired hand motor function resulting from neurological, psychiatric or orthopaedic disorders affects patients of all ages. Existing hand function assessment methods, e.g. rating scales, accelerometers and electromyographical devices, are often time-consuming to administer, subjective in interpretation and/or expensive. Graphonomic tests are gaining popularity as a way of avoiding these drawbacks while relating directly to writing and drawing. Here we present a computerized Extended Drawing Test (EDT), which improves on an earlier Drawing Test for stroke patients in three ways. First, it assesses isolated proximal arm movement using a graphics pen in a puck-like pen holder, and in addition combined arm and finger dexterity in movements using a normal writing grip. Secondly, we calibrated our test against 186 healthy subjects (3–70 years), finding significant age- and handedness-related differences in both speed and accuracy of drawing. Thirdly, to simplify assessment we devised an overall performance measure using a variant of Fitts’ Law combining speed and accuracy, which we found to be age-independent for healthy subjects above 3 years of age. This result enables us to provide age-independent performance norms using both hands, with and without the pen holder. These norms may assist quantification of specific arm dysfunction by comparing patient performance with the healthy norms, and also by comparing within-patient performance in the dominant and non-dominant hands with and without the pen holder. Using our freely available software, this new test will allow clinicians to rapidly assess arm and hand function across a wide range of patient categories and ages. [Copyright &y& Elsevier]

The terminal deletion of the short arm of chromosome 4 causing the Wolf-Hirschhorn syndrome is one of the first pathogenic copy number variations (CNVs) ever described. Since this first discovery, a large number of 4p CNVs causing variable phenotypes have been described. Here, we present an overview on those benign and pathogenic visible and submicroscopic 4p imbalances. Interestingly, some CNVs can be, dependent on their copy number state, both benign and pathogenic. In addition, we show how the collection of both phenotypes and genotypes of 4p terminal deletions is leading towards the genetic dissection of the Wolf-Hirschhorn syndrome. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The article focuses on the use of multisite trial to test the efficacy of constraint-induced movement therapy (CIMT) in children with hemiplegia. It presents the methodological choices, design, and main characteristics of an ongoing controlled clinical trial on the effectiveness and safety of CIMT under a rehabilitation program of patients with hemiplegic cerebral palsy (CP). It discusses how CIMT has been widely used as a form of treatment for children with hemiplegic CP aiming to reverse the behavioral suppression of movement in the affected upper limb, since CP is mainly characterized with an impaired arm and no hand function. Details on the study design and methodology used are presented.

The Pediatric Motor Activity Log (PMAL) is a parent-report measure of the use, by children with hemiplegic cerebral palsy (CP), of their affected upper limb in everyday activities. The aim of this study was to examine the psychometric properties of both scales of the PMAL (‘How Often’ and ‘How Well’ scales) using Rasch measurement modelling. Sixty-one parents of children with hemiplegic CP completed the PMAL and 31 completed it again 3 weeks later. The mean age of children was 4 years 6 months (SD 1y 9mo); 35 males, 26 females. Children were at Gross Motor Function Classification System (GMFCS) levels I (83%) and II (17%), and Manual Ability Classification System levels I (35%), II (52%), and III (14%). The original scales were found to have disordered rating scale structure. Further Rasch modelling with collapsed rating scale structures resulted in both scales conforming to the expectations of the Rasch model, yielding strong evidence for construct validity and reliability. One item from the How Often scale failed to conform to Rasch expectations and was deleted in subsequent analyses. Test–retest reliability of both scales was high (the intraclass correlation coefficient for the How Often scale was 0.94, and for the How Well scale 0.93). The revised scales possess good psychometric properties, specifically a logical item hierarchy, evidence of unidimensionality, adequate rating scale structure, and good test–retest reliability. We conclude that the revised PMAL has the capacity to yield valid and reliable scores except for children at the extremes of upper limb ability. [ABSTRACT FROM AUTHOR]

The spondylo-meta-epiphyseal dysplasia [SMED] short limb-hand type [SMED-SL] is a rare autosomal-recessive disease, first reported by Borochowitz et al. in 1993.1 Since then, 14 affected patients have been reported. 2-5 We diagnosed 6 patients from 5 different consanguineous Arab Muslim families from the Jerusalem area with SMED-SL. Additionally, we studied two patients from Algerian and Pakistani ancestry and the parents of the first Jewish patients reported.1 Using a homozygosity mapping strategy, we located a candidate region on chromosome 1q23 spanning 2.4 Mb. The position of the Discoidin Domain Receptor 2 (DDR2) gene within the candidate region and the similarity of the ddr2 knockout mouse to the SMED patients' phenotype prompted us to study this gene6. We identified three missense mutations c.2254 C > T [R752C1, c. 2177 T > G [1726R], c.2138C > T [7131] and one splice site mutation [IVS17+lg > a] in the conserved sequence encoding the tyrosine kinase domain of the DDR2 gene. The results of this study will permit an accurate early prenatal diagnosis and carrier screening for families at risk. [ABSTRACT FROM AUTHOR]

The perturbation method has been used to measure stiffness of the human arm with a manipulator. Results are averages of stiffness during short perturbation intervals (<0.4 s) and also vary with muscle activation. We therefore propose a novel method for estimating static arm stiffness from muscle activation without the use of perturbation. We developed a mathematical muscle model based on anatomical and physiological data to estimate joint torque solely from EMG. This model expresses muscle tension using a quadratic function of the muscle activation and parameters representing muscle properties. The parameters are acquired from the relation between EMG and measured torque. Using this model, we were able to reconstruct joint torque from EMG signals with or without co-contraction. Joint stiffness is directly obtained by differentiation of this model analytically. We confirmed that the proposed method can be used to estimate joint torque, joint stiffness, and stiffness ellipses simultaneously for various postures with the same parameters and produces results consistent with the conventional perturbation method. [ABSTRACT FROM AUTHOR]

Recent studies using a reaction time (RT) task have reported that a preprogrammed response could be triggered directly by a startling acoustic stimulus (115–124 dB) presented along with the usual "go" signal. It has been suggested that details of the upcoming response could be stored subcortically and are accessible by the startle volley, directly eliciting the correct movement. However, certain muscles (e.g., intrinsic hand) are heavily dependent on cortico-motoneuronal connections and thus would not be directly subject to the subcortical startle volley in a similar way to muscles whose innervations include extensive reticular connections. In this study, 14 participants performed 75 trials in each of two tasks within a RT paradigm: an arm extension task and an index finger abduction task. In 12 trials within each task, the regular go stimulus (82 dB) was replaced with a 115-dB startling stimulus. Results showed that, in the arm task, the presence of a startle reaction led to significantly shorter latency arm movements compared with the effect of the increased stimulus intensity alone. In contrast, for the finger task, no additional decrease in RT caused by startle was observed. Taken together, these results suggest that only movements that involve muscles more strongly innervated by subcortical pathways are susceptible to response advancement by startle. [ABSTRACT FROM AUTHOR]

Both cardiac structure and hand proportion have been linked with the Fibonacci Series and the associated Golden Ratio - the number 1.618 that has been postulated to be related to functional optimization. In this paper, evidence supporting the relation of the Golden Ratio to the hand and heart is presented. It is known that upper limb malformations are the commonest skeletal abnormalities in patients with congenital heart disease. Embryological studies on hand-heart syndromes have provided evidence for a cardiomelic developmental field, which is supported by candidate genes involved in patterning of the hand and heart. Precise molecular interactions govern a certain optimal model of cardiomelic development, for which the underlying physical rule remains unknown. It is hypothesized that the Golden Ratio may represent the mathematical basis for hand-heart development so as to achieve optimal form and function. Deregulation of this underlying patterning law may manifest as variation in hand-heart structure away from that as would be determined by the Golden Ratio. Altered hand proportion in turn may be of predictive value for cardiovascular defects and dysfunction. [ABSTRACT FROM AUTHOR]

Electrodiagnosis of subclinical diabetic neuropathies by nerve conduction studies remains challenging. The question arises about which nerves should be tested and what the best electrodiagnostic protocol to make an early diagnosis of diabetic neuropathies would be. On the basis of our findings and other evidence, which highlighted the remarkable prevalence of electrophysiological abnormalities in nerve conduction studies of the upper limbs, often in the presence of normal lower limb conduction parameters, we suggest that both ulnar and median nerves, in their motor and sensitive component, should be the two target nerves for electrodiagnostic protocols in diabetic neuropathies. [ABSTRACT FROM AUTHOR]

Abstract: Previous studies have described limb and hand movement abnormalities in a reach-to-eat task in advanced Parkinson''s disease (PD) and animal models of PD. The present study was directed toward examining reach-to-eat movements in early PD patients untreated with medication, along with a follow-up examination of a PD patient sub-group who were treated with a symptomatically stable dosage of dopamine replacement. Analysis of the reach-to-eat movement was made using blinded assessment under a validated scoring system, and comparisons were made on the total reach score and reach sub-component scores. In both examinations, PD patients had unilateral deficits or significant deficit asymmetry, as indicated by Unified Parkinson''s Disease Rating Scale (UPDRS) scores. UPDRS motor scores were higher for the most-affected side of the body (mean scores of 10.45 and 4.25 for more- and less-affected upper limbs, respectively), whereas reach scores were equivalently impaired for the two sides (median scores of 12.35 and 12.56 for more- and less-affected limbs, respectively). These differences between clinical and experimental assessments of motor impairments persisted among early PD patients treated with medication. Thus, functional reaching shows bilateral and symmetrical abnormalities in early PD patients, even when clinical assessment shows asymmetrical or even unilateral impairment. These findings suggest that functional qualitative reaching evaluation is a sensitive test in early PD, and that significant bilateral abnormalities in reach function are present even in pre-clinical stages of the disease. [Copyright &y& Elsevier]

The article presents a study which investigates the use of robotic therapy combined with botulinum toxin type A (BTX-A) injections as a clinical tool for improving the upper-limb coordination and quality of motor performance in children with cerebral palsy. It presents a single-case study to examine the combined effects of novel robotic therapy and BTX-A injections in an 8½-year-old girl with moderate motor impairments related to hemiplegic cerebral palsy. It states that after the clinical measures which include Modified Ashworth Scale, Quality of Upper Extremity Skill Test, and Fugl-Meyer Assessment, improvements in upper-limb coordination and quality motor performance were apparent throughout the robotic therapy trial.

This study evaluated the hypothesis that upper extremity function and range of motion can be quantified reliably in children with cerebral palsy (CP) in a busy clinical setting. The specific aim was to determine the inter- and intrarater reliability of a modified House Functional Classification (MHC) system to evaluate upper extremity function and a standardized instrument to document upper extremity range of motion (Upper Extremity Rating Scale [UERS]). Sixty-five children with CP (43 males, 22 females, mean age 9y 2mo, SD 4y 1mo) with spasticity involving the upper extremity (quadriplegia n=22; hemiplegia n=36; diplegia n=7; Gross Motor Functional Classification System Levels I n=41, II n=6, III n=3, IV n=5, V n=10) were evaluated independently by occupational therapists and orthopedic surgeons using both instruments at several visits. Inter- and intrarater reliability were determined for both instruments by calculating measures of agreement (weighted kappa values and intraclass correlation coefficients [ICCs]). Interrater agreement (ICC=0.94) and intrarater agreement (ICC=0.96) on the MHC were good to excellent. Similarly, inter-rater agreement (kappa 0.66–0.81) and intrarater agreement (kappa 0.64–0.88) on the UERS was either good or excellent. The MHC and the UERS provide standardized, reliable, reproducible, and efficient instruments that can be used by occupational therapists and orthopedic surgeons to evaluate the upper extremities of children with CP. [ABSTRACT FROM AUTHOR]

Abstract: Background: Recent studies have documented motions of the upper limbs of healthy subjects during activities of daily living. The aim of this study was to investigate compensatory motions of the upper extremity and torso during tasks for transradial prosthesis users and to determine if bracing simulates prosthesis use. Methods: Seven transradial myoelectric prosthesis users and 10 non-amputee volunteers performed four common tasks. Bracing was used to simulate the use of a transradial prosthesis by the non-amputee subjects. Range of motion of the glenohumeral (shoulder) joint, elbow joint and torso were calculated from optical motion analysis data. The motions between the non-braced, braced and transradial prosthesis user groups were statistically compared. Degree of asymmetry between the affected and unaffected arm was computed for the bilateral tasks. Findings: Myoelectric transradial prosthesis users compensate for lack of wrist and forearm movement differently depending on the task. Compensatory motion in torso bending occurs while opening a door. For the box lift task, prosthesis users rely more on the sound arm and torso bending. While drinking from a cup, decreasing flexion of the glenohumeral joint and increasing elbow flexion was shown while using a prosthesis. While turning a steering wheel, prosthesis users are similar to non-amputee subjects. Interpretation: By looking at the compensatory motions caused by limiting forearm and wrist movement, a greater understanding of the problems with transradial prosthetic design can be developed. Although bracing intact subjects showed similar mechanisms of compensation in most tasks, the magnitude of compensation was greater for prosthesis users. [Copyright &y& Elsevier]

This study examined the false positive rate of the upper limb neural tension test (ULNTT) and seated slump test (SST) among healthy young adults with no history of cervical, lumbar, or peripheral symptoms. Eighty-four subjects (27 men and 57 women) with a mean age of 22.9 years participated in the investigation. All participants completed a screening questionnaire designed to exclude subjects with a history of cervical or lumbar spine pain or injury, or upper or lower extremity neurological symptoms. The ULNTT and the SST were performed on the left upper and lower extremity of each participant. Of the 84 participants tested, 73 (86.9%) were found to have a positive ULNTT at some point in the available range of elbow extension. Twenty-eight (33.3%) of the 84 subjects had a positive SST at some point in the available range of knee extension. The mean knee extension angle for those subjects with a positive SST was 15.1° with a 95% confidence interval (CI) of 12.3 and 19.7°. The mean elbow extension angle for those with a positive ULNTT was 49.4° with a 95% CI of 44.8 and 54.0°. The number of positive tests for both the ULNTT and the SST was found to be high in this sample of asymptomatic healthy young adults. Based on the results of this investigation, the authors suggest that the current criteria for determining a positive test for both the ULNTT and the SST should be examined using the proposed range of motion cut-off scores. [ABSTRACT FROM AUTHOR]

In tests on humans, we recorded EMG activity from the muscles flexing and extending the forearm and shoulder in the course of realization of sequential single-joint and simultaneous two-joint movements of the upper limb. As was shown, the shoulder muscles m. biceps brachii and m. triceps brachii are involved in flexion/extension of both elbow and shoulder joints. Central commands sent to the above muscles in the course of a two-joint movement could be considered a superposition of the central commands coming to the same muscles in realization of the corresponding sequential single-joint movements with the same changes in the angles of the elbow and shoulder joints. External loadings applied in the direction of extension of the elbow and shoulder joints induced, in general, similar changes in coordination of the activity of muscles moving the forearm and shoulder under conditions of both single-joint and two-joint movements. These facts allow us to suppose that coordination of the muscle activity in two-joint movements depends to a greater extent on the forces influencing limb links than on the mode of realization of the movements (two sequential single-joint movements vs a two-joint movement corresponding to the above motor events). [ABSTRACT FROM AUTHOR]

The article presents an overview of rotator cuff failure, which is a common clinical problem that can affect arm movement. A discussion of research which has examined the effectiveness of various treatment strategies for rotator cuff failure and of guidelines which have been developed for the management of it, is presented. The case of a 63 year old woman with a two year history of progressive weakness and discomfort in her shoulder and was found to have a large defect in her rotator cuff, is presented and examined.

The overall aim of this study was to explore the association between incident musculoskeletal symptoms in the neck and upper limbs and exposure to hand–arm vibration and ergonomic stressors. The study has a prospective design and data at baseline and follow-up was assessed by self-administered questionnaires. The study population consisted of students that had graduated from vocational high schools in 2001–2003 in northern and western Sweden and a total of 586 men responded to both the baseline and follow-up questionnaires. The mean age was 20.7 (range 19–27) years, and the exposure information included questions regarding hand–arm vibration, postural stress, computer work, mental stress and perception of muscular tension. Musculoskeletal symptoms in the neck and upper limbs were assessed at baseline and at follow-up. Men who reported their daily vibration exposure duration (work and leisure) as more than 1 h at baseline had an increased risk of neck pain in the preceding 7 days at follow-up, when adjusting for all the other exposure variables (PR 3.29, 95% CI 1.02–14.9). Men with a calculated 8-h weighted vibration exposure level [A(8)] above 1.7 m/s2 had an increased risk of developing neck pain in both the unadjusted and adjusted analyses compared to those with an exposure level below 0.5 m/s2. Men who reported their daily vibration exposure duration (work and leisure) to be more than 1 h at baseline had an increased risk of neck pain for the preceding 7 days at follow-up. An increased prevalence of neck pain was also observed in individuals with a calculated 8-h frequency weighted vibration exposure level above 1.7 m/s2 (calculated from data assessed at follow-up) compared to those with an exposure level below 0.5 m/s2. The increased risks remained when adjusting for postural and mental stress; however the results could still be confounded by other ergonomic and physical load factors not adjusted for in the analyses. [ABSTRACT FROM AUTHOR]

To investigate approaches adopted to diagnose soft tissue rheumatic disorders of the upper limb (ULDs) in vibration-exposed populations and in other settings, and to compare their methodological qualities. Systematic searches were made of the Medline, Embase, and CINAHL electronic bibliographic databases, and of various supplementary sources (textbooks, reviews, conference and workshop proceedings, personal files). For vibration-exposed populations, qualifying papers were scored in terms of the provenance of their measuring instruments (adequacy of documentation, standardisation, reliability, criterion-related and content validity). Similar criteria were applied to general proposals for whole diagnostic schemes, and evidence was collated on the test–retest reliability of symptom histories and clinical signs. In total, 23 relevant reports were identified concerning vibration-exposed populations—21 involving symptoms and 9 involving examination/diagnosis. Most of the instruments employed scored poorly in terms of methodological quality. The search also identified, from the wider literature, more than a dozen schemes directed at classifying ULDs, and 18 studies of test–retest reliability of symptoms and physical signs in the upper limb. Findings support the use of the standardised Nordic questionnaire for symptom inquiry and suggest that a range of physical signs can be elicited with reasonable between-observer agreement. Four classification schemes rated well in terms of content validity. One of these had excellent documentation, and one had been tested for repeatability, agreement with an external reference standard, and utility in distinguishing groups that differed in disability, prognosis and associated risk factors. Hitherto, most studies of ULDs in vibration-exposed populations have used custom-specified diagnostic methods, poorly documented, and non-stringent in terms of standardisation and supporting evidence of reliability and/or validity. The broader literature contains several question sets and procedures that improve upon this, and offer scope in vibration-exposed populations to diagnose ULDs more systematically. [ABSTRACT FROM AUTHOR]

The combination of bilateral brachial amelia, facial clefting, and holoprosencephaly is rare. To our knowledge, only 4 patients with this combination of malformations have been described so far. We report on a male fetus with bilateral brachial amelia, complex facial clefts, frontal craniosynostosis and hypoplasia, thoracic kyphoscoliosis, and holoprosencephaly. In addition, an interrupted aortic arch, a muscular ventricular septal defect, and localized noncompaction of the septal myocardium were present. Although fibroblast culture was not successful, fluorescent in situ hybridization of paraffin-embedded tissue showed a normal set of chromosomes 13, 18, 21, X and Y. Our observation supports the hypothesis that this malformation combination may constitute a distinct entity. However, so far, a genetic defect remains to be identified. [ABSTRACT FROM AUTHOR]

Aim: To study psychosocial adjustment and mental health in children with upper-limb reduction deficiency and a myoelectric prosthetic hand.Methods: Sixty-two parents of children aged 8 to 18 y old answered a questionnaire concerning competence and behaviour/emotional problems in their children. Of the 62 children, 37 adolescents aged 11 to 18 y old answered questionnaires concerning competence, problems and mood state. The results were compared with Swedish normative data. The children were divided into five groups based on degree of myoelectric prosthetic use.Results: Children with upper-limb reduction deficiency and a myoelectric prosthetic hand showed social competence and behaviour/emotional problems similar to Swedish standardized norms. However, withdrawn behaviour was significantly higher in all children, social competence was significantly lower in girls, and social activities were significantly lower in older children with upper-limb reduction deficiency. There was a significant difference between prosthetic use groups. Non-users had significantly more delinquent behaviour problems than full-time users. There was an interaction between gender and prosthetic use in their affect on competence and behaviour/emotional problems, yielding two contrasting patterns.Conclusion: Children with upper-limb reduction deficiency and a myoelectric prosthetic hand are as well adjusted psychosocially as their able-bodied peers. There are indications, however, of social stigmata related to the deficiency, which have to be considered differently in boys and girls. [ABSTRACT FROM AUTHOR]

The article describes the case of an eight-year-old girl with multiple bluish, compressible painless nodules confined to her right arm and was diagnosed with Maffucci syndrome, a rare non-hereditary disorder characterized by multiple enchondromas and vascular malformations. Topics discussed include differential diagnoses for a patient with unilateral limb involvement with vascular malformations and co-management of the patient with orthopedics, thoravascular surgery and rehabilitation medicine.

Paget-Schroetter syndrome is a form of upper limb deep venous thrombosis usually seen in younger patients in association with repetitive activities of the affected limb. When occurring in more elderly patients or in those where it is difficult to appreciate a causative mechanism, other aetiologies should be considered. We present a case in which degenerative osteoarthritis of the sternoclavicular joint with osteophyte development impinged on the subclavian vein, leading to extensive upper limb thrombosis. The difficulties in identifying and managing this unusual cause of Paget-Schroetter are presented and discussed. [ABSTRACT FROM AUTHOR]

We present a group of patients with regional capillary malformations of the upper limbs and few additional findings other than prominent veins. We believe that this entity is the upper extremity equivalent of capillary-venous malformation of the lower limb and, likewise, belongs at the minor end of the spectrum of vascular disorders with overgrowth. [ABSTRACT FROM AUTHOR]

Key Clinical Message Inflammatory bowel disease can present with extraintestinal features as the patient's only complaint. The erythema nodosum ( EN) initially affected the upper limbs only, reminding us that signs do not always present in a classical fashion. The presence of EN should prompt the clinician to look for any underlying cause. [ABSTRACT FROM AUTHOR]

Abstract: Background: Few studies have evaluated the functional and electrophysiological correlates of hand-held grip dynamometry in neuromuscular disease. The practical value of normative values remains uncertain in clinical practice. We aimed to ascertain the value, clinical and electrophysiological correlates, as well as utility of normative values for grip dynamometry, in a cohort of subjects with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods: We performed a cross-sectional study of 31 prospectively recruited subjects with CIDP, using Jamar hand-held grip dynamometry, conventional clinical assessments and electrophysiology. Results: Grip dynamometry correlated highly with motor, sensory and functional scores in the upper limbs as well as with global function. There were significant correlations with summated median/ulnar, and ulnar compound muscle action potentials. Patients’ readings were significantly lower than median normative values but comparable to fifth percentile normative figures. Conclusions: Jamar grip dynamometry is a reliable measure of global neurological status in patients with CIDP, not limited to upper limb or exclusively motor function. At optimum level of function, CIDP patients had comparable dynamometry recordings to fifth percentile normative values, which may represent a realistic aim for treated subjects with the disorder, with currently available therapies. [Copyright &y& Elsevier]

Background The Disabilities of the Arm, Shoulder and Hand work module (DASH-W) questionnaire has not previously been described in relation to hand–arm vibration syndrome (HAVS). Aims To measure work-related disability in workers with HAVS using the DASH-W questionnaire and to determine how the various components of HAVS affect the DASH-W score. Methods Workers with HAVS from a variety of industries were assessed over a 2-year period at the occupational health clinic, St Michael’s Hospital, Toronto. Subjects completed the DASH-W questionnaire and were assessed by an occupational physician to determine their Stockholm sensorineural and vascular stages and upper extremity pain score measured by the Borg scale, as an indication of musculoskeletal problems associated with HAVS. The average DASH-W score was compared with the average value for the US population. Multiple linear regression was used to determine the contribution of the various components of HAVS to the DASH-W score. Results There were 139 (134 men and 5 women) participants. The subjects with HAVS had a mean DASH-W score of 54.7 (95% CI: 50.3–59.1), which was considerably higher than the average for the US population (P < 0.001). Statistically significant HAVS variables in the multiple linear regression included the Stockholm sensorineural stage (P < 0.05) and the upper extremity pain score (P < 0.001) with the pain score having the highest partial R2 value. Conclusions Workers with HAVS reported significant upper extremity work-related disability as measured by the DASH-W questionnaire, and the upper extremity pain score made the largest contribution to the DASH-W scores in these subjects. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 48-year-old male who visited the emergency room because of the uncontrollable shaking of his arm. It states that five years before, he had undergone a resection of a brain tumour located in the right frontoparietal region of the brain. It says that based on the magnetic resonance imaging (MRI) the man has a residual low-grade astrocytoma. It mentions the application of positron emission tomography (PET) with 18-fluorodeoxyglucose (FDG).

Cover of medium and large defects of the dorsum of the hand remains a substantial surgical challenge that often requires free tissue transfer. We report the case of a 28-year-old male who presented with necrosis of most of the dorsum of his dominant hand after an iatrogenic injury. A large Becker flap was raised to cover the entire defect. However, venous insufficiency was noted intraoperatively. The flap was turbocharged by performing a venous anastomosis between the flap and the recipient site, resulting in complete survival of the flap. The authors conclude that the turbocharged Becker flap can be a good alternative for expeditiously covering large defects of the dorsum of the hand without having to resort to free tissue transfer. [ABSTRACT FROM AUTHOR]

Asymmetry syndrome is one of the forms of delay of neuromotor development, which appears in newborns and infants, and belongs to the group of risk babies (present prenatal, perinatal or postnatal risk factors). Asymmetry syndrome can be manifested with asymmetric head position, trunk asymmetry, and upper and lower extremity asymmetry on the same side. Our study included 64 babies with the asymmetry syndrome who were treated at our Clinic. The most frequent risk factors were intracranial hemorrhages, hypoxicischemic encephalopathy and asphyxia. Clinical expression of asymmetry was correlated with ultrasound of CNS. The most frequent finding was a complete asymmetry of the head, trunk and extremities. [ABSTRACT FROM AUTHOR]

Syphilis in pregnancy still remains a challenge despite the availability of adequate diagnostic tests for serological screening and penicillin therapy. We report a case of 2 month old female infant who presented with runny nose, papulosquamous lesions over both palms and soles and perianal erosions since 1 month after birth. Cutaneous examination revealed moist eroded areas in the perianal region and fine scaly lesions over palms and soles. Radiograph of both upper limbs and limbs revealed early periosteal changes in lower end of humerus and lower end of tibia. Diagnosis of early pre-natal syphilis was confirmed by Child's Serum Rapid Plasma Reagin Antibody test [S.RPR] being positive with 1:64 dilution while that of mother was 1:8. [ABSTRACT FROM AUTHOR]