Local subcutaneous and muscle pain impairs detection of passive movements at the human thumb.

Activity in both muscle spindle endings and cutaneous stretch receptors contributes to the sensation of joint movement. The present experiments assessed whether muscle pain and subcutaneous pain distort proprioception in humans. The ability to detect the direction of passive movements at the interphalangeal joint of the thumb was measured when pain was induced experimentally in four sites: the flexor pollicis longus (FPL), the subcutaneous tissue overlying this muscle, the flexor carpi radialis (FCR) muscle and the subcutaneous tissue distal to the metacarpophalangeal joint of thumb.

Impact of noncompliance with alendronate and risedronate on the incidence of nonvertebral osteoporotic fractures in elderly women.

Aims: To evaluate the association between noncompliance with alendronate and risedronate and the risk of nonvertebral osteoporotic fracture in community-dwelling elderly women.

Methods: A nested case-control study was conducted using the Quebec administrative health databases. To be included in the cohort, women needed to be aged > or = 68 years and to have initiated treatment with alendronate or risedronate between 1 January 2002 and 31 March 2005.

DNAI1 mutations explain only 2% of primary ciliary dykinesia.

Background: Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its main symptoms are respiratory, caused by defective ciliary beating in the epithelium of the upper airways (nose, bronchi and paranasal sinuses). Impairing the drainage of inhaled microorganisms and particles leads to recurrent infections and pulmonary complications.

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a heterogeneous autosomal dominant cardiac disorder with a prevalence of 1 in 500. Over 450 different pathogenic mutations in at least 16 genes have been identified so far. The large allelic and genetic heterogeneity of HCM requires high-throughput, rapid, and affordable mutation detection technologies to efficiently integrate molecular screening into clinical practice.

Genetic variability of the mu-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women.

Labor initiates one of the most intensely painful episodes in a woman's life. Opioids are used to provide analgesia with substantial interindividual variability in efficacy. mu-Opioid receptor (muOR, OPRM1) genetic variants may explain differences in response to opioid analgesia.

Does startle explain the exaggerated first response to a transient perturbation?

Here we review recent experimental evidence suggesting that exaggerated muscle response to an unfamiliar transient perturbation consists of combined postural and startle responses. Summation of these two independent responses explains the experimental data and suggests that habituation consists of the extinction of the startle response leaving only the postural response.

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by perturbed or absent beating of motile cilia, which is referred to as Kartagener syndrome (KS) when associated with situs inversus. We present a German family in which five individuals have PCD and one has KS. PCD was confirmed by analysis of native and cultured respiratory ciliated epithelia with high-speed video microscopy.

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

The PTEN hamartoma tumor syndrome, manifestations of which include Cowden disease and Bannayan-Riley-Ruvalcaba syndrome, is caused by various mutations of the PTEN gene located at 10q23. Its major criteria are macrocephaly and a propensity to develop breast and thyroid cancers as well as endometrial carcinoma. Minor diagnostic criteria include hamartomatous intestinal polyps, lipomas, fibrocystic disease of the breasts, and fibromas.

Hereditary complement deficiency and lupus: report of four Tunisian cases.

The aim of the study was to assess the clinical and immunological profile of lupus erythematosus (LE) patients with inherited complement deficiency (ICD). A laboratory-based study was conducted in which all LE patients with hypocomplementemia were included. ICD was assessed by hemolytic and antigenic assays.

Pediatric systemic lupus erythematosus with C1q deficiency.

Hereditary deficiency of each component of the classical pathway is associated with increased susceptibility to lupus erythematosus (LE). Both the severity of the disease and the strength of this association are greatest for homozygous C1q deficiency, which is extremely rare. In fact, more than 90% of all individuals with deficiency of this component have LE.

Vestibular signal processing in a subject with somatosensory deafferentation: the case of sitting posture.

Background: The vestibular system of the inner ear provides information about head translation/rotation in space and about the orientation of the head with respect to the gravitoinertial vector. It also largely contributes to the control of posture through vestibulospinal pathways. Testing an individual severely deprived of somatosensory information below the nose, we investigated if equilibrium can be maintained while seated on the sole basis of this information.

Influence of feedback modality on sensorimotor adaptation: contribution of visual, kinesthetic, and verbal cues.

In 4 studies, the authors tested the contributions of visual, kinesthetic, and verbal knowledge of results to the adaptive control of reaching movements toward visual targets. The same apparatus was used in all experiments, but the procedures differed in the sensory modality of the feedback that participants (N s = 5, 5, 6, and 6, respectively, in Experiments 1, 2, 3, and 4) received about their performances. Using biased visual, proprioceptive, or verbal feedback, the authors introduced a 5 degrees shift in the visuomanual relationship.

Frequency response of human vestibular reflexes characterized by stochastic stimuli.

Stochastic vestibular stimulation (SVS) can be used to study the postural responses to unpredictable vestibular perturbations. The present study seeks to determine if stochastic vestibular stimulation elicits lower limb muscular responses and to estimate the frequency characteristics of these vestibulo-motor responses in humans. Fourteen healthy subjects were exposed to unpredictable galvanic currents applied on their mastoid processes while quietly standing (+/-3 mA, 0-50 Hz).

Evidence for distinct, differentially adaptable sensorimotor transformations for reaches to visual and proprioceptive targets.

Recent evidence suggests that planning a reaching movement entails similar stages and common networks irrespective of whether the target location is defined through visual or proprioceptive cues. Here we test whether the transformations that convert the sensory information regarding target location into the required motor output are common for both types of reaches. To do so, we adaptively modified these sensorimotor transformations through exposure to displacing prisms and hypothesized that if they are common to both types of reaches, the aftereffects observed for reaches to visual targets would generalize to reaches to a proprioceptive target.

Intraoperative floppy-iris syndrome associated with alpha1-adrenoreceptors: comparison of tamsulosin and alfuzosin.

Purpose: To compare the incidence of intraoperative floppy-iris syndrome (IFIS) in men exposed to tamsulosin and men exposed to alfuzosin and evaluate the effect of IFIS on the complication rate of cataract surgery.

Setting: Tertiary care hospital, Chicoutimi, Quebec, Canada.

Methods: The medical charts of 64 men (92 eyes) who had phacoemulsification cataract surgery between June 2005 and July 2006 and reported having used tamsulosin or alfuzosin at their initial visit for cataract evaluation were reviewed.

Chiropractic clinical practice guideline: evidence-based treatment of adult neck pain not due to whiplash.

Objective: To provide an evidence-based clinical practice guideline for the chiropractic cervical treatment of adults with acute or chronic neck pain not due to whiplash. This is a considerable health concern considered to be a priority by stakeholders, and about which the scientific information was poorly organized.

Options: Cervical treatments: manipulation, mobilization, ischemic pressure, clinic- and home-based exercise, traction, education, low-power laser, massage, transcutaneous electrical nerve stimulation, pillows, pulsed electromagnetic therapy, and ultrasound.

Neural control of superficial and deep neck muscles in humans.

Human neck muscles have a complex multi-layered architecture. The role and neural control of these neck muscles were examined in nine seated subjects performing three series of isometric neck muscle contractions: 50-N contractions in eight fixed horizontal directions, 25-N contractions, and 50-N contractions, both with a continuously changing horizontal force direction. Activity in the left sternocleidomastoid, trapezius, levator scapulae, splenius capitis, semispinalis capitis, semispinalis cervicis, and multifidus muscles was measured with wire electrodes inserted at the C(4)/C(5) level under ultrasound guidance.

Coordination between postural and movement controls: effect of changes in body mass distribution on postural and focal component characteristics.

Whole-body reaching movements are accomplished through a combination of anticipatory postural adjustments (APAs) and focal movements. Two different modes of central organization is usually proposed for this coordination: first, a single-process control, where the APAs and the focal movements would share a common command; second, where the APAs and the focal movements would be independently controlled through parallel commands (dual-process control). Here, we investigated which one of these modes of control could better explain the coordination between the trunk and the upper limb for standing subjects reaching for a target located beyond arm's length.

Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.

Deficiencies in terminal complement components, including the component C7, are uncommon and associated with an increased risk of recurrent systemic neisserial infection. A total of 22 molecular defects have been reported in the C7 gene with both complete (C7Q0) and subtotal (C7SD) C7 deficiencies. In this study we report the molecular basis of nine new cases of C7 deficiencies that were characterized by exon-specific sequence analysis.

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e.

Controlling reaching movements during self-motion: body-fixed versus Earth-fixed targets.

The control of goal-directed arm movements performed during whole-body displacements is far from being understood. Recent studies suggested that the compensatory arm movements that allow individuals to preserve hand-in-space trajectory during unexpected body motion are controlled by sensorimotor, automatic- like processes. We tested this hypothesis comparing both the accuracy of movements directed towards body-fixed or Earth-fixed target during body rotations and the amount of interference of the reaching tasks on a concurrent cognitive task.

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy.

Atypical hemolytic-uremic syndrome (aHUS; OMIM 235400) is genetically and clinically heterogeneous. Mutations in membrane cofactor protein (MCP; CD46), a widely expressed complement regulator, predispose to recurrent forms of the disease. Patients carrying MCP mutations have a favorable clinical outcome in comparison to those with factor H (CFH) or factor I (IF) mutations, which lead in most cases to end-stage renal failure.

Acute and selective regulation of glyceroneogenesis and cytosolic phosphoenolpyruvate carboxykinase in adipose tissue by thiazolidinediones in type 2 diabetes.

Aims/hypothesis: Regulation of glyceroneogenesis and its key enzyme cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) plays a major role in the control of fatty acid release from adipose tissue. Here we investigate the effect of rosiglitazone on the expression of genes involved in fatty acid metabolism and the resulting metabolic consequences.

Materials And Methods: Rosiglitazone was administered to Zucker fa/fa rats for 4 days and to 24 diabetic patients for 12 weeks, then mRNA expression for the genes encoding PEPCK-C, mitochondrial PEPCK, adipocyte lipid-binding protein, glycerol kinase, lipoprotein lipase and glycerol-3-phosphate dehydrogenase was examined in s.