A National Review of Neonatal Jaundice Identification.

Background Physiological neonatal hyperbilirubinemia is a normal transitional phenomenon, however bilirubin encephalopathy can develop due to exposure to very high bilirubin levels. A systematic approach to early detection of high levels can prevent this outcome. Methods We designed a questionnaire to assess local jaundice management practices in Irish maternity units. Results All 19 units responded to our clinical questionnaire. Early discharge (<48 hours) occurs in 12 units (63%). Six units universally screen all babies with a transcutaneous bilirubinometer (TCB) (32%) while 12 units only do so if clinically jaundiced (83%). 12 units follow up <5% of their babies for jaundice monitoring after discharge (67%), which is lower than expected for optimal jaundice management. Conclusion Our survey responses show a high degree of variability in jaundice identification and follow up practices around the country. As maternity units trend towards earlier discharge of mothers due to resource constraints, we need to develop national systems to stratify risk before discharge and monitor jaundice in the out-patient setting. Introduction

Chiari Malformation Presenting as Headaches Associated with Laughter.

Presentation We describe the case of a 5 year old boy, referred to our outpatient department with a one year history of headaches associated with laughter. Diagnosis Investigation with MRI Brain revealed Chiari Type 1 Malformation (CM-1), with cerebellar tonsillar descent of 19mm below the foramen magnum. Treatment He is being managed conservatively with serial neuroimaging and symptom monitoring. Discussion CM-1 is a hindbrain malformation characterised by ≥5mm herniation of the cerebellar tonsils.1,2 It is diagnosed radiographically, and is increasingly being detected incidentally.3,4 The natural history of asymptomatic patients is usually to remain asymptomatic, and symptomatic patients often show symptom improvement, particularly in paediatric populations.3,5 Neurosurgical interventions may be offered based on symptoms and radiographic findings, but carries a complication rate of 8.2%.6.

Characterization of the shoulder net joint moment during manual wheelchair propulsion using four functional axes.

Understanding how individuals distribute mechanical demand imposed on their upper extremity during physically demanding activities provides meaningful insights to preserve function and mitigate detrimental mechanical loading of the shoulder. In this study, we hypothesized that parameterization of the shoulder net joint moment using four functional axes could characterize distribution tendencies about the shoulder during manual wheelchair propulsion and that regardless of demographics, a shoulder flexor dominant NJM distribution would be predominantly used by individuals with paraplegia (n = 130). Forces and kinematics of the upper extremity and trunk were quantified using motion capture and an instrumented wheel during steady state manual wheelchair propulsion at self-selected fast speeds on a stationary ergometer. The results indicate that parsing out the internal/external rotation component of the shoulder net joint moment about the upper arm and distributing the remainder across the three orthogonal axes of the torso was successful in identifying common shoulder net joint moment distribution techniques used across individuals with paraplegia during manual wheelchair propulsion. Distribution tendencies were predominantly flexor dominant across injury level, gender, time since injury, body mass index, and height demographics. The 4-axis parameterization of the shoulder NJM effectively differentiated moment distribution tendencies used by individuals during manual wheelchair propulsion using a functionally relevant representation of shoulder kinetics. Use of the four-axis parameterization of joint kinetics in future studies is expected to provide important insights that can advance knowledge, preserve function, and inform clinical decisions.

The impact of having a sibling with an intellectual disability: parental perspectives in two disorders.

BACKGROUND: The potential effects on other children when there is a child with intellectual disability (ID) in the family are being increasingly recognized. This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents. METHODS: The parents of 186 Western Australian children with Down syndrome and 141 Australian girls and women with Rett syndrome participated in the study. Patterns of reporting disadvantages and/or benefits were compared across a number of child and family variables (age, functional ability and birth order of the affected child, number of siblings and number of parents in the family home) and by socio-economic status as measured by the index of relative socio-economic disadvantage and by area of residence. Parents' responses to open-ended questions about the benefits and/or disadvantages for siblings of their child were analysed for themes. RESULTS: The majority of parents in the Rett syndrome and Down syndrome groups reported both disadvantages and benefits for siblings. In the Rett syndrome group, families from outer regional areas were the least likely to mention disadvantages and those with a smaller family more likely to note disadvantages. In both groups, more socio-economically advantaged families were more likely to report disadvantages. In the Down syndrome group, benefits were also more commonly reported by parents who were socio-economically advantaged, and by larger and two-parent families. Major disadvantages for siblings centred around parental and personal time constraints, relationships and socializing, restrictions, parental emotion and burden of helping. Major benefits were related to personality characteristics. CONCLUSION: Parents identified both benefits and disadvantages to the siblings of their child with either Rett syndrome or Down syndrome. It is important that these findings are incorporated into any discussion around the impact on the family of a child diagnosed with an ID.

Trends in mode of delivery during 1984-2003: can they be explained by pregnancy and delivery complications?

OBJECTIVES: To describe trends in mode of delivery, to identify significant factors which affected mode of delivery, and to describe how these factors and their impact have changed over time. DESIGN: Total population birth cohort. SETTING: Western Australia 1984-2003. PARTICIPANTS: The analysis was restricted to all singleton infants delivered at 37-42 weeks of gestation with a cephalic presentation (n = 432,327). METHODS: Logistic regression analyses were undertaken to estimate significant independent risk factors separately for elective and emergency caesarean sections compared with vaginal delivery (spontaneous and instrumental), adjusting for potential confounding variables. MAIN OUTCOME MEASURES: Trends in mode of delivery, demographic factors, and pregnancy and delivery complications. Estimated likelihood of elective caesarean section compared with vaginal delivery and emergency caesarean section compared with vaginal delivery. RESULTS: Between 1984-88 and 1999-2003, the likelihood of women having an elective caesarean section increased by a factor of 2.35 times (95% CI 2.28-2.42) and the likelihood of an emergency caesarean section increased 1.89 times (95% CI 1.83-1.96). These caesarean section rate increases remained even after adjustment for their strong associations with many sociodemographic factors, obstetric risk factors, and obstetric complications. Rates of caesarean section were higher in older mothers, especially those older than 40 years of age (elective caesarean section, OR 5.42 [95% CI 4.88-6.01]; emergency caesarean section, OR 2.67 [95% CI 2.39-2.97]), and in nulliparous women (elective caesarean section, OR 1.54 [95% CI 1.47-1.61]; emergency caesarean section, OR 3.61 [95% CI 3.47-3.76]). CONCLUSIONS: Our data show significant changes in mode of delivery in Western Australia from 1984-2003, with an increasing trend in both elective and emergency caesarean section rates that do not appear to be explained by increased risk or indication.

The effect of level of spinal cord injury on shoulder joint kinetics during manual wheelchair propulsion.

OBJECTIVE: The effects of spinal cord injury level on shoulder kinetics during manual wheelchair propulsion were studied. DESIGN: Single session data collection in a laboratory environment. METHODS: Male subjects were divided into four groups: low level paraplegia (n=17), high level paraplegia (n=19), C7 tetraplegia (C7, n=16) and C6 tetraplegia (C6, n=17). Measurements were recorded using a six-camera VICON motion analysis system, a strain gauge instrumented wheel, and wheelchair ergometer. Shoulder joint forces and moments were calculated using the inverse dynamics approach. RESULTS: Mean self-selected propulsion velocity was higher in the paraplegic (low paraplegia=90.7 m/min; high paraplegia=83.4 m/min) than tetraplegic (C7=66.5 m/min; C6=47.0 m/min) groups. After covarying for velocity, no significant differences in shoulder joint moments were identified. However, superior push force in subjects with tetraplegia (C7=21.4 N; C6=9.3 N) was significantly higher than in those with high paraplegia (7.3 N), after covarying velocity. CONCLUSIONS: The superior push force in the tetraplegic groups coupled with weakness of thoraco-humeral depressors increases susceptibility of the subacromial structures to compression. RELEVANCE: Increased vertical force at the shoulder joint, coupled with reduced shoulder depressor strength, may contribute to shoulder problems in subjects with tetraplegia. Wheelchair design modifications, combined with strength and endurance retention, should be considered to prevent shoulder pain development.

Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene.

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cyst formation in the kidney, liver, and pancreas and is associated often with cardiovascular abnormalities such as hypertension, mitral valve prolapse, and intracranial aneurysms. It is caused by mutations in PKD1 or PKD2, encoding polycystin-1 and -2, which together form a cell surface nonselective cation ion channel. Pkd2-/- mice have cysts in the kidney and pancreas and defects in cardiac septation, whereas Pkd1(del34) -/- and Pkd1(L) -/- mice have cysts but no cardiac abnormalities, although vascular fragility was reported in the latter. Here we describe mice carrying a targeted mutation in Pkd1 (Pkd1(del17-21betageo)), which defines its expression pattern by using a lacZ reporter gene and may identify novel functions for polycystin-1. Although Pkd1(del17-21betageo) +/- adult mice develop renal and hepatic cysts, Pkd1(del17-21betageo) -/- embryos die at embryonic days 13.5-14.5 from a primary cardiovascular defect that includes double outflow right ventricle, disorganized myocardium, and abnormal atrio-ventricular septation. Skeletal development is also severely compromised. These abnormalities correlate with the major sites of Pkd1 expression. During nephrogenesis, Pkd1 is expressed in maturing tubular epithelial cells from embryonic day 15.5. This expression coincides with the onset of cyst formation in Pkd1(del34) -/-, Pkd1(L) -/-, and Pkd2-/- mice, supporting the hypothesis that polycystin-1 and polycystin-2 interact in vivo and that their failure to do so leads to abnormalities in tubule morphology and function.

Carbohydrate-loading during the follicular phase of the menstrual cycle: effects on muscle glycogen and exercise performance.

The effects of employing a high-carbohydrate diet (carbohydrate-loading) to increase glycogen storage in skeletal muscle are not well established in female athletes. On 4 occasions--2 familiarization trials and 2 experimental trials--6 well-trained female subjects completed 6 x 15-min continuous intervals of cycling (12 min at 72% VO2max, 1 min at maximal effort, and 2 min at 50% VO2max), followed by a time trial 15 min later. The women consumed their habitual diets (HD; 6-7 g carbohydrate/kg lean body mass) for 3 days after the second familiarization trial and before the first experimental trial. During the 3 days following the first experimental trial, the subjects consumed a high-carbohydrate diet (CD; 9-10 g carbohydrate/kg lean body mass) prior to the second experimental trial. Mean (+/-SEM) pre-exercise muscle glycogen concentrations were greater after CD versus HD (171.9+/-8.7 vs. 131.4+/-10.3 mmol/kg wet weight, P < 0.003). Although 4 of the 6 subjects improved their time-trial performance after CD, mean performance for the time trial was not significantly different between diets (HD: 763.9+/-35.6 s; CD: 752.9+/-30.1 s). Thus, female cyclists can increase their muscle glycogen stores after a carbohydrate-loading diet during the follicular phase of the menstrual cycle, but we found no compelling evidence of a dietary effect on performance of a cycling time trial performed after 90 min of moderate-intensity exercise.

Electromyographic and kinematic analysis of the shoulder during four activities of daily living in men with C6 tetraplegia.

The pattern of motor paralysis that commonly follows C6 tetraplegia creates an increased demand on upper limb function. The present investigation documented shoulder motion and muscular activity during planar motions and four activities of daily living (ADLs) in 15 men with spinal cord injuries (SCI) resulting in C6 tetraplegia. Three-dimensional (3-D) shoulder motion was recorded using a VICON motion system, and intramuscular electrodes recorded electromyographic (EMG) activity of 12 shoulder muscles. Active flexion and abduction required greater EMG than control subjects lifting a 2-kg weight. Relative EMG was similar for most muscles during hair combing, drinking, and reaching forward, although increased humeral elevation commonly resulted in a greater relative muscular effort. Hair combing had the most humeral elevation (90 degrees) with moderate to high levels of activation (32% to 63% maximum) recorded in the anterior deltoid, supraspinatus, infraspinatus, and scapular muscles. During reaching for the perineum, posterior deltoid and subscapularis activity dominated.

The energy expenditure of normal and pathologic gait.

Physiological energy expenditure measurement has proven to be a reliable method of quantitatively assessing the penalties imposed by gait disability. The purpose of this review is to outline the basic principles of exercise physiology relevant to human locomotion; detail the energy expenditure of normal walking; and summarize the results of energy expenditure studies performed in patients with specific neurologic and orthopedic disabilities. The magnitude of the disabilities and the patients' capacity to tolerate the increased energy requirements are compared. This paper also will examine the effectiveness of rehabilitation interventions at mitigating the energetic penalties of disability during ambulation.

Three dimensional upper extremity motion during manual wheelchair propulsion in men with different levels of spinal cord injury.

This investigation compared three dimensional upper extremity motion during wheelchair propulsion in persons with 4 levels of spinal cord injury: low paraplegia (n=17), high paraplegia (n=19), C7 tetraplegia (n=16), and C6 tetraplegia (n=17). Upper extremity motion was recorded as subjects manually propelled a wheelchair mounted on a stationary ergometer. For all motions measured, subjects with paraplegia had similar patterns suggesting that the wheelchair backrest adequately stabilizes the trunk in the absence of abdominal musculature. Compared with paraplegic subjects, those with tetraplegia differed primarily in the strategy used to contact the wheel. This was most evident among subjects with C6 tetraplegia who had greater wrist extension and less forearm pronation.

The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease.

Polycystin-1, polycystin-2 and polycystin-L are the predicted protein products of the PKD1, PKD2 and PKDL genes, respectively. Mutations in PKD1 and PKD2 are responsible for almost all cases of autosomal dominant polycystic kidney disease (ADPKD). This condition is one of the commonest mendelian disorders of man with a prevalence of 1:800 and is responsible for nearly 10% of cases of end-stage renal failure in adults. The cloning of PKD1 and PKD2 in recent years has provided the initial steps in defining the mechanisms underlying renal cyst formation in this condition, with the aim of defining pharmacological and genetic interventions that may ameliorate the diverse and often serious clinical manifestations of this disease. The PKD genes share regions of sequence similarity, and all predictintegral membrane proteins. Whilst the predicted protein domain structure of polycystin-1 suggests it is involved in cell-cell or cell-matrix interactions, the similarity of polycystin-2 and polycystin-L to the pore-forming domains of some cation channels suggests that they all form subunits of a large plasma membrane ion channel. In the few years since the cloning of the PKD genes, a consensus that defines the range of mutations, expression pattern, interactions and functional domains of these genes and their protein products is emerging. This review will therefore attempt to summarise these data and provide an insight in to the key areas in which polycystin research is unravelling the mechanisms involved in renal cyst formation.

Effects of gender and functional overload on plantaris muscle morphology in the dwarf (HsdOla:dw-4) Lewis rat.

To investigate relationships between pituitary function and gender on skeletal muscle growth and hypertrophy, fiber cross sectional area (CSA) and type were assessed in the plantaris muscle of normal and dwarf (Dw) male and female Lewis rats after 6 weeks of functional overload (FO). Serum growth hormone levels were 70-80% less in Dw rats of both genders, and body mass was 62% greater in normal rats when compared to their Dw counterparts. Muscle weight was affected by gender, dwarfism, and FO as well as a significant gender*Dw*FO interaction. FO increased Type I, IIA, and IIX/B fiber CSA 120%, 102%, and 75%, respectively. Only type 1H fibers exhibited a reduction in CSA as a function of gender or dwarfism. Both type IIA and IIX/B fibers were affected by a significant gender*Dw*FO interaction. Our results suggest that the growth of type II fibers is sensitive to gender and pituitary function, while hypertrophy of type II muscle fibers is a function of the interaction between mechanical load, gender, and pituitary function.

Shoulder joint kinetics during the push phase of wheelchair propulsion.

The purpose of this investigation was to quantify the forces and moments at the shoulder joint during free, level wheelchair propulsion and to document changes imposed by increased speed, inclined terrain, and 15 minutes of continuous propulsion. Data were collected using a six-camera VICON motion analysis system, a strain gauge instrumented wheel, and a wheelchair ergometer. Seventeen men with low level paraplegia participated in this study. Shoulder joint forces and moments were calculated using a three-dimensional model applying the inverse dynamics approach. During free propulsion, peak shoulder joint forces were in the posterior (46 N) and superior directions (14 N), producing a peak resultant force of 51 N at an angle of 185 degrees (180 degrees = posterior). Peak shoulder joint moments were greatest in extension (14 Newton-meters [Nm]), followed by abduction (10 Nm), and internal rotation (6 Nm). With fast and inclined propulsion, peak vertical force increased by greater than 360%, and the increase in posterior force and shoulder moments ranged from 107% to 167%. At the end of 15 minutes of continuous free propulsion, there were no significant changes compared with short duration free propulsion. The increased joint loads documented during fast and inclined propulsion could lead to compression of subacromial structures against the overlying acromion.

Segment velocities in normal and transtibial amputees: prosthetic design implications.

Dynamic elastic response foot and ankle prostheses (Seattle-Lite, Flex Foot, etc.) used by transtibial amputees feature substantial design improvements over conventional designs (SACH, Single Axis, etc.). Despite this progress, transtibial amputees continue to expend greater energy than normals. Increased residual limb EMG data and altered gait patterns suggest that impaired mobility may be the cause of overactive muscles in early stance. Prosthetic mobility was therefore quantified by measuring foot, shank and thigh velocities in nine transtibial amputees, wearing three different foot designs: Single Axis (SA), Seattle Lite (SL) and Flex Foot (FF). The magnitude, timing and rate of segment velocities for each prosthetic design, characterizing early stance mobility, were compared with corresponding measures in normal, nonamputee (NA) controls using Dunnett's test. Regardless of foot type, transtibial (TT) amputees walked slower than non amputee controls (63.3-65.8 m/min versus 78.5 m/min, p < 0.05) and their stride length was shorter (1.21-1.26 m versus 1.41 m, p < 0.01). In early stance, peak foot and shank velocities were lower (p < 0.01) for both the SL and FF while only shank velocity was lower (p < 0.01) with the SA compared to NA controls. Significant delays in the timing of early stance events such as peak shank velocity, peak ankle plantarflexion and peak knee flexion compromised shank and knee stability in TT amputees. Foot and shank mobility was uncontrolled with the SA design while ankle mobility was restricted by the FF and SL feet. In NA controls on the other hand, appropriate timing and rate of segment velocity changes preserved dynamic stability and forward progression in early stance. This was evidenced by rapid decreases in foot and shank velocity as the thigh velocity increased during weight acceptance. Future prosthetic designs should provide TT amputees with improved ankle mobility that attempt to capture the dynamic characteristics of a normal articulation between the foot and shank segments during the early stance weight acceptance period.

The ability of male and female clinicians to effectively test knee extension strength using manual muscle testing.

It has been suggested that the accuracy of manual muscle testing is dependent on examiner strength. Our purpose was to relate male and female clinicians' upper extremity strength to their ability to challenge the quadriceps and detect weakness in patients using manual muscle testing. Quadriceps muscles of seven men and 12 women with postpoliomyelitis were tested manually by a male and female clinician while forces were recorded with a hand-held dynamometer. Patients' maximal isometric knee extension force was recorded with a Lido dynamometer and clinicians' maximal vertical push force was recorded with the hand-held dynamometer. Manual muscle testing forces, patient maximum quadriceps forces, and examiner push forces were compared with repeated measures analysis of variance. Female examiners' maximal vertical push force (235.7 +/- 54.3 N) was not significantly different from either female or male patients' maximal quadriceps force (166.8 +/- 66.7 N and 341.6 +/- 123.7 N) but was only 60% and 40% of the isometric knee extension forces generated by a group of normal women and men. Male examiners were significantly stronger (357.0 +/- 93.4 N) than the female but not the male patients and produced 90% and 60% of the normal isometric quadriceps forces for women and men. Examiners gave appropriate grades in 30 of 38 tests. Examiner strength limits detection of moderate quadriceps weakness with manual resistance. Most of the muscle test grades, however, were appropriate, given the examiner's upper extremity strength. Clinicians using manual muscle testing should determine their maximal vertical push force and the extent of weakness they can detect.

Prosthetic weight acceptance mechanics in transtibial amputees wearing the Single Axis, Seattle Lite, and Flex Foot.

Loading response challenges the limb with the dual demands of accepting rapidly moving body weight to both absorb the shock of floor contact and create a stable limb over which the body can advance. Delay in achieving foot flat contact with the floor causes a prolonged period of heel only support and results in an unstable base of support for those persons with transtibial amputations. The purpose of this study was to identify mechanical causes of instability during weight acceptance with three different prosthetic foot designs, Single Axis, Seattle Lightfoot, and Flex Foot. Ten male individuals with transtibial amputations were tested on three separate occasions wearing each prosthetic foot. A comparison group of ten individuals without transtibial amputations was also examined. Mean free walking speed was significantly slower for those with transtibial amputations regardless of the prosthetic foot worn (p < 0.05). Contralateral toe off times were significantly later for each prosthetic foot (p < 0.01). The timing of peak knee flexion was found to be significantly later than normal for each prosthetic foot (p < 0.01). To minimize the impact of initial floor contact, persons with an intact limb used rapid plantar flexion, followed by a slower lowering of the foot to the floor. Dorsiflexion then stimulated knee flexion and foot flat. Two altered functions were found for all three prosthetic feet, reduced knee flexion and prolonged heel only support. Diminished knee flexion reflected delayed dorsiflexion and tibial advancement as a result of the cushioned heel. Lateness in reaching foot flat was also found. To improve the walking abilities of those persons with transtibial amputations, prosthetic foot designs need to incorporate mechanisms which promote early foot flat while preserving limb stability.

Temporal-spatial characteristics of wheelchair propulsion. Effects of level of spinal cord injury, terrain, and propulsion rate.

The purpose of this investigation was to compare the temporal-spatial characteristics of wheelchair propulsion (velocity, cycle distance, and cadence) of customary wheelchair users in conditions designed to simulate community settings. Seventy adult males with spinal cord injuries (SCI) were grouped by their level of SCI: low paraplegia (n = 17); high paraplegia (n = 19); C-7 tetraplegia (n = 17); C-6 tetraplegia (n = 17). Testing was performed in a wheelchair that had the right pushrim instrumented with force transducers. Participants propelled the test wheelchair at a self-selected, free, and fast pace over tile and carpeted floors. A wheelchair ergometer was designed to simulate loads encountered during propulsion over graded surfaces. Participants propelled the test wheelchair during ergometer simulation of 4% and 8% grades. Mean velocity, cycle distance, and cadence were calculated for each group in all test conditions. A two-way repeated measures analysis of variance and simple main effects testing for comparison across conditions and between groups were performed. For all test conditions, participants with low paraplegia were the fastest and had the longest cycle distance. With successively higher levels of SCI, velocities were slower and cycle distances shorter. During free propulsion on tile, velocities ranged from 95 m/min in low paraplegics to 55 m/min in C-6 tetraplegics. Fast propulsion velocity increased to 141 and 55 m/min, respectively. There was a significant main effect of surface for velocity such that the carpet condition was slower than the tile for all groups. Differences in velocity were most often the result of changes in cycle distance. High and low paraplegic groups were statistically similar for all test conditions. Participants with C-6 tetraplegia were significantly slower than all other groups for most test conditions. Because their fast propulsion velocities were slower than typical community demands, their ability to function independently outside the hospital setting has been further questioned.

Electromyographic analysis of the shoulder muscles during depression transfers in subjects with low-level paraplegia.

OBJECTIVE: To document and compare the intensity of selected shoulder muscle activity during depression transfers. DESIGN: Intramuscular electrodes were used to record the activity of 12 shoulder muscles while transferring to and from a wheelchair. PARTICIPANTS: Twelve adult men with spinal cord injuries resulting in low paraplegia. OUTCOME MEASURES: Three phases of the transfer were analyzed: preparation, lift, and descent. Median intensities were compared between muscles, transfer phase, and direction of transfer using Freidman's test. RESULTS: Trunk elevation was accomplished mainly by sternal pectoralis major and latissimus dorsi activity. Lateral body displacement required other muscles to control the elevated body. Rotator cuff muscles contributed to shift mechanics and, together with anterior deltoid, provided anterior glenohumeral wall protection. Lower serratus anterior stabilized the scapulothoracic articulation and contributed to the lateral movement. CONCLUSIONS: Assessment of depression transfer skill should not be based on the ability to lift body weight. Movement of the trunk required vigorous activity of key shoulder musculature. Differences in leading and trailing arm EMG intensities will assist in modifying transfer style in individuals with weakness, strength imbalances, and shoulder pathologies.