European principles of care for physiotherapy provision for persons with inherited bleeding disorders: Perspectives of physiotherapists and patients.

INTRODUCTION: In their Chronic Care Model, the World Health Organisation states that people with chronic disorders and their families should be informed about the expected course, potential complications, and effective strategies to prevent complications and manage symptoms. Physiotherapists are a key professional group involved in the triage, assessment and management of musculoskeletal conditions of persons with a bleeding disorder (PWBD). Nevertheless, recent reports describe access to physiotherapy for those with these conditions is only sometimes available. AIM: Access to high quality individualised physiotherapy should be ensured for all PWBD, including those with mild and moderate severities, male and female, people with von Willebrand Disease (vWD) and other rare bleeding disorders. Physiotherapy should be viewed as a basic requisite in their multidisciplinary care. METHODS/ RESULTS: Following a series of meetings with physiotherapists representing the European Association for Haemophilia and Allied Disorders (EAHAD) and PWBD representing the European Haemophilia Consortium (EHC) and a review of publications in the field, eight core principles of physiotherapy care for persons with a bleeding disorder have been co-produced by EAHAD and EHC. CONCLUSION: These eight principles outline optimum standards of practice in order to advocate personalised patient-centred care for physical health in which both prevention and interventions include shared decision making, and supported self-management.

Evolutionary diversification of insulin-related peptides (IRPs) in aphids and spatiotemporal distribution in Acyrthosiphon pisum.

Members of the insulin superfamily activate the evolutionarily highly conserved insulin/insulin-like growth factor signaling pathway, involved in regulation of growth, energy homeostasis, and longevity. In the current study we focus on aphids to gain more insight into the evolution of the IRPs and how they may contribute to regulation of the insulin-signaling pathway. Using the latest annotation of the pea aphid (Acyrthosiphon pisum) genome, and combining sequence alignments and phylogenetic analyses, we identified seven putative IRP encoding-genes, with IRP1-IRP4 resembling the classical insulin and insulin-like protein structures, and IRP5 and IRP6 bearing insulin-like growth factor (IGF) features. We also identified IRP11 as a new and structurally divergent IRP present in at least eight aphid genomes. Globally the ten aphid genomes analyzed in this work contain four to 15 IRPs, while only three IRPs were found in the genome of the grape phylloxera, a hemipteran insect representing an earlier evolutionary branch of the aphid group. Expression analyses revealed spatial and temporal variation in the expression patterns of the different A. pisum IRPs. IRP1 and IRP4 are expressed throughout all developmental stages and morphs in neuroendocrine cells of the brain, while IRP5 and IRP6 are expressed in the fat body. IRP2 is expressed in specific cells of the gut in aphids in non-crowded conditions and in the head of aphids under crowded conditions, IRP3 in salivary glands, and both IRP2 and IRP3 in the male morph. IRP11 expression is enriched in the carcass. This complex spatiotemporal expression pattern suggests functional diversification of the IRPs.

Sustainable laser-based technology for insect pest control.

Aphids damage directly or indirectly cultures by feeding and spreading diseases, leading to huge economical losses. So far, only the use of pesticides can mitigate their impact, causing severe health and environmental issues. Hence, innovative eco-friendly and low-cost solutions must be promoted apart from chemical control. Here, we have investigated the use of laser radiation as a reliable solution. We have analyzed the lethal dose required to kill 90% of a population for two major pest aphid species (Acyrthosiphon pisum and Rhopalosiphum padi). We showed that irradiating insects at an early stage (one-day old nymph) is crucial to lower the lethal dose without affecting plant growth and health. The laser is mostly lethal, but it can also cause insect stunting and a reduction of survivors' fecundity. Nevertheless, we did not notice any significant visible effect on the offspring of the surviving irradiated generation. The estimated energy cost and the harmless effect of laser radiation on host plants show that this physics-based strategy can be a promising alternative to chemical pesticides.

Assessment of a 16S rRNA amplicon Illumina sequencing procedure for studying the microbiome of a symbiont-rich aphid genus.

The bacterial communities inhabiting arthropods are generally dominated by a few endosymbionts that play an important role in the ecology of their hosts. Rather than comparing bacterial species richness across samples, ecological studies on arthropod endosymbionts often seek to identify the main bacterial strains associated with each specimen studied. The filtering out of contaminants from the results and the accurate taxonomic assignment of sequences are therefore crucial in arthropod microbiome studies. We aimed here to validate an Illumina 16S rRNA gene sequencing protocol and analytical pipeline for investigating endosymbiotic bacteria associated with aphids. Using replicate DNA samples from 12 species (Aphididae: Lachninae, Cinara) and several controls, we removed individual sequences not meeting a minimum threshold number of reads in each sample and carried out taxonomic assignment for the remaining sequences. With this approach, we show that (i) contaminants accounted for a negligible proportion of the bacteria identified in our samples; (ii) the taxonomic composition of our samples and the relative abundance of reads assigned to a taxon were very similar across PCR and DNA replicates for each aphid sample; in particular, bacterial DNA concentration had no impact on the results. Furthermore, by analysing the distribution of unique sequences across samples rather than aggregating them into operational taxonomic units (OTUs), we gained insight into the specificity of endosymbionts for their hosts. Our results confirm that Serratia symbiotica is often present in Cinara species, in addition to the primary symbiont, Buchnera aphidicola. Furthermore, our findings reveal new symbiotic associations with Erwinia- and Sodalis-related bacteria. We conclude with suggestions for generating and analysing 16S rRNA gene sequences for arthropod-endosymbiont studies.

[Four-layer laryngotracheoplasty to repair an anterior tracheal wall defect induced by a Montgomery T-tube]. / Réparation par laryngotrachéoplastie cutanéochondromyocutanée d'une perte de substance trachéale antérieure induite par un tube de Montgomery.

A 37-year old patient was referred in 2000 for reconstruction of the anterior tracheal wall eroded by a Montgomery T-tube. A four-layer laryngotracheoplasty was proposed to the patient. The endotracheal plane was reconstructed by a bilateral random pattern quadrangular skin hinge flap raised from both sides of the defect. The chondral plane was realized with conchal cartilage. This cartilage graft was covered with an inferiorly based sternocleidomastoid flap. The fourth layer was a mesh split-thickness skin graft. Satisfactory and lasting results were observed during a three-year follow-up. Few articles deal specifically with tracheal reconstruction after anterior wall erosion induced by a Montgomery-T tube. We found no mention of the described four-layer flap in the literature.

Effects of plant protease inhibitors, oryzacystatin I and soybean Bowman-Birk inhibitor, on the aphid Macrosiphum euphorbiae (Homoptera, Aphididae) and its parasitoid Aphelinus abdominalis (Hymenoptera, Aphelinidae).

Transgenic plants expressing protease inhibitors (PIs) have emerged in recent years as an alternative strategy for pest control. Beneficial insects such as parasitoids may therefore be exposed to these entomotoxins either via the host or by direct exposure to the plant itself. With the objective of assessing the effects of PIs towards aphid parasitoids, bioassays using soybean Bowman-Birk inhibitor (SbBBI) or oryzacystatin I (OCI) on artificial diet were performed on Macrosiphum euphorbiae-Aphelinus abdominalis system. OCI significantly reduced nymphal survival of the potato aphid M. euphorbiae and prevented aphids from reproducing. This negative effect was much more pronounced than with other aphid species. On the contrary, SbBBI did not affect nymphal viability but significantly altered adult demographic parameters. Enzymatic inhibition assays showed that digestive proteolytic activity of larvae and adults of Aphelinus abdominalis predominantly relies on serine proteases and especially on chymotrypsin-like activity. Immunoassays suggested that OCI bound to aphid proteins and accumulated in aphid tissues, whereas SbBBI remained unbound in the gut. Bioassays using M. euphorbiae reared on artificial diets supplemented with both OCI and SbBBI showed a fitness impairment of Aphelinus abdominalis that developed on intoxicated aphids. However, only SbBBI was detected in parasitoid larvae, while no PI could be detected in adult parasitoids that emerged from PI-intoxicated aphids. The potential impact of PI-expressing plants on aphid parasitoids and their combined efficiency for aphid control are discussed.

[Ewing sarcoma of thumb: report of a case and review of the literature]. / Tumeur d'Ewing du pouce: présentation d'un cas clinique et revue de la littérature.

The authors report a case of an Ewing sarcoma of the thumb. It is a rare localisation of this disease and it should not be unknown. Based on the literature, the appropriate treatment is discussed.

Calcium currents and transients in co-cultured contracting normal and Duchenne muscular dystrophy human myotubes.

1. The goal of the present study was to investigate differences in calcium movements between normal and Duchenne muscular dystrophy (DMD) human contracting myotubes co-cultured with explants of rat spinal cord with attached dorsal root ganglia. Membrane potential, variations of intracellular calcium concentration and T- and L-type calcium currents were recorded. Further, a descriptive and quantitative study by electron microscopy of the ultrastructure of the co-cultures was carried out. 2. The resting membrane potential was slightly less negative in DMD (-61.4 +/- 1.1 mV) than in normal myotubes (-65.5 +/- 0.9 mV). Both types of myotube displayed spontaneous action potentials (mean firing frequency, 0.42 and 0.16 Hz, respectively), which triggered spontaneous calcium transients measured with Indo-1. 3. The time integral under the spontaneous Ca(2+) transients was significantly greater in DMD myotubes (97 +/- 8 nM s) than in normal myotubes (67 +/- 13 nM s). 4. The L- and T-type current densities estimated from patch-clamp recordings were smaller in DMD cells (2.0 +/- 0.5 and 0.90 +/- 0.19 pA pF(-1), respectively) than in normal cells (3.9 +/- 0.7 and 1.39 +/- 0.30 pA pF(-1), respectively). 5. The voltage-dependent inactivation relationships revealed a shift in the conditioning potential at which inactivation is half-maximal (V(h,0.5)) of the T- and L-type currents towards less negative potentials, from -72.1 +/- 0.7 and -53.7 +/- 1.5 mV in normal cells to -61.9 +/- 1.4 and -29.2 +/- 1.4 mV in DMD cells, respectively. 6. Both descriptive and quantitative studies by electron microscopy suggested a more advanced development of DMD myotubes as compared to normal ones. This conclusion was supported by the significantly larger capacitance of the DMD myotubes (408 +/- 45 pF) than of the normal myotubes (299 +/- 34 pF) of the same apparent size. 7. Taken together, these results show that differences in T- and L-type calcium currents between normal and DMD myotubes cannot simply explain all observed alterations in calcium homeostasis in DMD myotubes, thus suggesting that other transmembrane calcium transport mechanisms must also be altered in DMD myotubes compared with normal myotubes.

[Mixed type amyloidomas, beta2 microglobulin and AL lambda, in a long term hemodialysis patient]. / Amyloïdomes fessiers de type mixte, beta 2-microglobuline et AL lambda, chez une patiente hémodialysée au long cours.

A frequent complication of hemodialysis is deposition of beta 2-microglobulin amyloid in tendons and joints. Soft tissues involvement is exceptional. A 74 year-old woman on hemodialysis for 21 years developed two bilateral and symmetric tumours in gluteal regions causing discomfort when sitting. Histology, immunohistochemistry and electron microscopy showed that deposit consisted of predominant beta 2-microglobulin and lambda light chain. This is an unusual localisation of amyloidosis developing late in the course of hemodialysis. It may be perhaps initiated by chronic traumatism and be promoted by the light chain lambda of immunoglobulin.

[Pigmented Paget's disease of the male nipple]. / Maladie de Paget pigmentée du mamelon chez l'homme.

BACKGROUND: Mammary Paget's disease unfrequently occurs in males, and may be pigmented in rare instances. Differential diagnosis with malignant melanoma relies on immunohistochemical studies. CASE REPORT: A case of Paget's disease of the nipple in a 76 year-old male is reported, clinically mimicking a malignant melanoma because of massive pigmentation. Histologically, large Paget's clear cells were intermingled with numerous melanin-rich dendritic melanocytes. An underlying ductal carcinoma was found. After differential immunohistochemical staining, diagnosis of Paget's disease could be unequivocally substantiated since Paget's cells stained for epithelial markers, c-erbB-2 and hormonal receptors, whereas protein S100 and HMB45 were negative. DISCUSSION: Pigmentation in mammary Paget's disease occurs preferentially in males. Pigmentation results from numerous melanocytes with abundant melanin in close contact with Paget's cells. An increased number of melanocytes may also be observed in cutaneous metastatic breast carcinomas. It could result from a chemotactic factor produced by neoplastic cells.

Cationic channels in normal and dystrophic human myotubes.

Human skeletal muscle cells obtained from normal and Duchenne muscular dystrophy patients were cocultured with explants of rat dorsal root ganglions. Single-channel recordings were performed with the cell-attached configuration of the patch-clamp technique and negative pressure was applied via the patch-pipette in order to mechanically stimulate the membrane patch. Inward elementary current activity was recorded under control or negative pressure conditions. Its occurrence and mean open probability were higher in Duchenne muscular dystrophy. Amplitude histograms reveal that these channels have a small unitary conductance of around 10 pS in 110 mM Ca2+ and could be inhibited in a dose-dependent manner by gadolinium. Results show that the membrane stress favoured calcium permeation through these channels. Taken together these data provide arguments for the involvement of such channels in calcium overload previously observed in cocultured dystrophic human (Duchenne muscular dystrophy) muscle cells.

[Malignant melanoma in the child: an uncommon illness]. / Le mélanome malin de l'enfant: une affection rare à connaître.

BACKGROUND: Malignant melanoma are uncommon in children and are sometimes difficult to distinguish from Spitz nevi. Histological diagnosis is particularly difficult. CASE REPORT: Three prepuberty children (aged 14, 10 and 14 years) underwent excision of suspicious nevi found at pathology examination to be malignant melanomas. After complementary treatment the recurrence-free survival has been 18, 14 and 4 years respectively. DISCUSSION: Clinical signs of malignant melanomas are unspecific. As in adults, any modification in a melanic lesion should led to excision and pathology examination. In the literature, there is often a confusion between malignant melanoma developing in children and young adults making it difficult to determine the prognosis of the childhood disease. Prognosis of cutaneous malignant melanomas is generally good (excluding giant nevi and congenital malignant melanoma).

The effect of methylprednisolone on intracellular calcium of normal and dystrophic human skeletal muscle cells.

Clinical trials have shown that a glucocorticoid, the methyiprednisolone (PDN), has a beneficial effect on muscle strength and function in Duchenne muscular dystrophy (DMD) patients. The aim of this study was to test if the effect of PDN could be mediated via a possible action on intracellular calcium. The intracellular calcium activity, at rest and during calcium mobilizing drug superfusion protocols was recorded in normal and dystrophic human cocultured muscle cells. PDN (10 microM) pretreatment induced an elevation of the resting calcium concentration of 51, 34 and 38% in proliferating normal myoblasts, DMD myoblasts and DMD myotubes, respectively, while normal myotubes resting [Ca2+]i was not altered.

[Approach to severe functional deficiencies: evaluating the efficacy of a special multidisciplinary consultation]. / Approche des déficiences fonctionnelles graves: bilan de l'activité d'une consultation pluridisciplinaire dédiée.

A global approach is required to evaluate severe functional deficits. We have developed a multidisciplinary consultation and assessed its usefulness after one year. A total of 62 patients were evaluated (mean age 35 years), usually for neurological functional deficit (50%). Among the 62 patients, surgery was proposed in 72.6% (operations performed in 66%). Others were managed with non-surgical procedures or abstention. The functional outcome as assessed by patients and physicians was poor (or no result) for 6%, fair for 15%, good or very good for 79%. These results suggest that such a multidisciplinary approach is worth being pursued. Some adjustments for psychological dysfunction may further improve outcomes.

Malignant blue nevus: three new cases and a review of the literature.

Three patients with malignant blue nevus are reported-one on the right side of the body, one on the right arm, and one on the face. The criteria and difficulty of histopathological diagnosis are considered as well as the differential diagnoses for this tumor. The therapy is described, and the possible relations between malignant blue nevus and certain other tumors (e.g., atypical or locally aggressive cellular blue nevus) are explored. A review of the literature reveals that there is current disagreement about the exact prognosis for these tumors and indicates the need to collect data for all patients observed.

[Hemifacial atrophy. A case report associated with linear scleroderma]. / Atrophie hémifaciale. A propos d'un cas dans une sclérodermie en bandes.

The authors report a case of facial hemiatrophy, secondary to linear scleroderma, and review the various possible causes of facial hemiatrophy. The various treatments proposed to correct facial hemiatrophy are described. The advantages and disadvantages of each technique together with their indications as a function of the severity of the lesions are then discussed. Free flap currently appears to be the treatment of choice in severe forms and the main question concerns the choice of flap. The authors prefer an inverted dermal fat flap because of its advantages (absence of long-term ptosis, better facial contours) and the absence of laparotomy.

Obtaining maximal use of expanded scalp rotation flaps via an experimental model.

The relative inelasticity of scalp skin and the irregular convexity of the cranial vault necessitate careful planning in the design and mobilization of scalp flaps. Rotation flaps adapt particularly well to the curves of the cranial vault. An experimental model has enabled us to study the design and mobilization of expanded scalp rotation flaps and to obtain maximal efficiency from the tissue expansion process. The use of a round tissue expander situated immediately adjacent to a scalp defect is an excellent method for the creation of a rotation flap. To optimize the use of the expanded tissues, the flap should be designed so that its border passes along the periphery of these expanded tissues. In cases in which it is advisable to separate the expander from the defect, such as when the defect is highly contaminated, efficient use of the expanded tissues can still be obtained by placing the expander at the site of a rotation flap backcut. Furthermore, although this study focuses on rotation flaps only, this same model can be used to examine and compare different closure methods using other types of flaps as well.

[Evaluating the efficacy of a multidisciplinary approach of severe functional deficits]. / Evaluation de l'efficacité d'une approche pluridisciplinaire des déficits fonctionnels sévères.

Therapeutic indications aimed at improving function in handicapped persons are difficult to establish as the expected result of a given technique may vary. We have developed a multidisiplinary approach for handicapped persons. Our assessment of this activity which has concerned 62 patients from October 1995 to October 1996 is promising and encourages us to continue this type of attitude. Forty-six of the 58 persons evaluated stated they were well satisfied or very well satisfied with the management of their case and outcome was worse in none of the patients.

In-vitro biomechanical study of a dorso-lumbo-sacral posterior supple instrumentation with variable section.

This study is designed to analyse the behavior, in the sagittal plane, of a complete human dorso-lumbar rachis, made rigid by the posterior instrumentation used for the treatment of scoliosis, on subjects suffering from DMD (Duchenne Muscular Dystrophy). The object of this analysis is to demonstrate the reliability of early surgery made possible by new instrumentation. Close review of the literature shows that the currently used Harrington or Luque instrumentations lead to mechanical complications, especially rod breaking, at the thoraco-lumbar junction. 8 specimens were non-destructively tested in-vitro. Compression and flexion were applied. For each test, rachis movements with and then without instrumentation, and also rod restraints were noted. The results show a linear stiffness multiplied by 8.3 in flexion and 11.6 in extension. The maximum restraint recorded for physiological displacements is 77 MPa. This remains largely under the fatigue-breaking limit of the metal used (stainless steel hammer-hardened 316 L, Young's modulus = 200,000 MPa, Poisson's ratio = 0.21, endurance limit = 350 MPa at 5 x 10(6) cycles). The results of this study encourage us to continue and develop early surgery in children affected by myopathy, with fixation of the complete rachis, including a lumbo-sacral arthrodesis and a supple dorsal part of the mounting, in the sagittal plane.