Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms

INTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed. RESULTS: Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case. CONCLUSIONS: To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia.

Earth-based repair mortars: experimental analysis with different binders and natural fibers

RESTAPIA 2012 - Int. Conf. on Rammed Earth Conservation, Valencia, 21-23 June 2012

Cellulose micro/nano fibers conformational effects probed by nematic liquid crystal droplets

Probing micro-/nano-sized surface conformations, which are ubiquitous in biological systems, by using liquid crystal droplets, which change their ordering and optical appearance in response to the presence of more than ten times smaller cellulose based micro/nano fibers, might find new uses in a range of biological environments and sensors. Previous studies indicate that electrospun micro/nano cellulosic fibers produced from liquid crystalline solutions could present a twisted form [1]. In this work, we study the structures of nematic liquid crystal droplets threaded by cellulose fibers prepared from liquid crystalline and isotropic solutions as well as droplets pierced by spider-made fibers [2]. Planar anchoring at the fibers and planar and homeotropic at the drop surfaces allowed probing cellulose fibers different helical structures as well as aligned filaments.

Eco-efficient earthen plasters: The influence of the addition of natural fibers.

Clayish earth-based mortars are been recognized, all over the world, as eco-efficient products for plastering. Apart from being a product with low embodied energy when compared to other types of plasters, their application on the interior surface of walls may give a strong contribution for the health and comfort of inhabitants. As part of an ongoing research regarding earth-based plasters this work assesses the influence of the addition of two types of natural fibres – oat straw and typha fiber-wool – on the characteristics of plastering mortars made with a clayish earth. Mechanical and physical characteristics were tested, showing that addition of these fibers contribute to decrease linear drying shrinkage and thermal conductivity, as well as promoting the adhesion strength of plaster to the substrate. The improvement of mechanical resistance reveal to be dependent on the type of fiber added while the hygroscopic capacity of the plaster is maintained regardless of the fiber additions.

Slow clinical improvement after treatment initiation in Leishmania/HIV coinfected patients

INTRODUCTION: In Brazil there is a large area of overlap of visceral leishmaniasis (VL) and HIV infection, which favored a increased incidence of coinfection Leishmania/HIV. METHODS: This study evaluated 65 consecutive patients with VL and their clinical response to treatment in two health care settings in Belo Horizonte, Brazil. RESULTS: At baseline, the clinical picture was similar between both groups, although diarrhea and peripheral lymphadenomegaly were more frequent in HIV-infected subjects. HIV-positive patients had lower median blood lymphocyte counts (686/mm³ versus 948/mm³p = 0.004) and lower values of alanine aminotransferase (ALT) (48IU/L versus 75.6IU/L p = 0.016) than HIV-negative patients. HIV-positive status (hazard ratio = 0.423, p = 0.023) and anemia (HR = 0.205, p = 0.002) were independent negative predictors of complete clinical response following antileishmanial treatment initiation. CONCLUSIONS: This study reinforces that all patients with VL should be tested for HIV infection, regardless of their clinical picture. This practice would allow early recognition of coinfection with initiation of antiretroviral therapy and, possibly, reduction in treatment failure.

Degree of disability, pain levels, muscle strength, and electromyographic function in patients with Hansen's disease with common peroneal nerve damage

INTRODUCTION: This study evaluated the degree of disability, pain levels, muscle strength, and electromyographic function (RMS) in individuals with leprosy. METHODS: We assessed 29 individuals with leprosy showing common peroneal nerve damage and grade 1 or 2 disability who were referred for physiotherapeutic treatment, as well as a control group of 19 healthy participants without leprosy. All subjects underwent analyses of degree of disability, electromyographic tests, voluntary muscle force, and the Visual Analog Pain Scale. RESULTS: McNemar's test found higher levels of grade 2 of disability (Δ = 75.9%; p = 0.0001) among individuals with leprosy. The Mann-Whitney test showed greater pain levels (Δ = 5.0; p = 0.0001) in patients with leprosy who had less extension strength in the right and left extensor hallucis longus muscles (Δ = 1.28, p = 0.0001; Δ = 1.55, p = 0.0001, respectively) and dorsiflexion of the right and left feet (Δ = 1.24, p = 0.0001; Δ = 1.45, p = 0.0001, respectively) than control subjects. The Kruskal-Wallis test showed that the RMS score for dorsiflexion of the right (Δ = 181.66 m·s-2, p = 0.001) and left (Δ = 102.57m·s-2, p = 0.002) feet was lower in patients with leprosy than in control subjects, but intragroup comparisons showed no difference. CONCLUSIONS: Leprosy had a negative influence on all of the study variables, indicating the need for immediate physiotherapeutic intervention in individuals with leprosy. This investigation opens perspectives for future studies that analyze leprosy treatment with physical therapeutic intervention.

Modulation of electrical stimulation applied to human physiology and clinical diagnostic

The use, manipulation and application of electrical currents, as a controlled interference mechanism in the human body system, is currently a strong source of motivation to researchers in areas such as clinical, sports, neuroscience, amongst others. In electrical stimulation (ES), the current applied to tissue is traditionally controlled concerning stimulation amplitude, frequency and pulse-width. The main drawbacks of the transcutaneous ES are the rapid fatigue induction and the high discomfort induced by the non-selective activation of nervous fibers. There are, however, electrophysiological parameters whose response, like the response to different stimulation waveforms, polarity or a personalized charge control, is still unknown. The study of the following questions is of great importance: What is the physiological effect of the electric pulse parametrization concerning charge, waveform and polarity? Does the effect change with the clinical condition of the subjects? The parametrization influence on muscle recruitment can retard fatigue onset? Can parametrization enable fiber selectivity, optimizing the motor fibers recruitment rather than the nervous fibers, reducing contraction discomfort? Current hardware solutions lack flexibility at the level of stimulation control and physiological response assessment. To answer these questions, a miniaturized, portable and wireless controlled device with ES functions and full integration with a generic biosignals acquisition platform has been created. Hardware was also developed to provide complete freedom for controlling the applied current with respect to the waveform, polarity, frequency, amplitude, pulse-width and duration. The impact of the methodologies developed is successfully applied and evaluated in the contexts of fundamental electrophysiology, psycho-motor rehabilitation and neuromuscular disorders diagnosis. This PhD project was carried out in the Physics Department of Faculty of Sciences and Technology (FCT-UNL), in straight collaboration with PLUX - Wireless Biosignals S.A. company and co-funded by the Foundation for Science and Technology.

Hydatid cysts in muscles: clinical manifestations, diagnosis, and management of this atypical presentation

ABSTRACTINTRODUCTION: Hydatid cysts are rarely detected in muscle tissue (0.7-0.9%), even in endemic countries. The aim of this study was to present information regarding the clinical manifestations, diagnosis, and management of muscle echinococcosis.METHODS: Twenty-two patients with hydatid cysts in the muscle were followed from January 2006 through December 2014.RESULTS: Twenty-four sites of muscle involvement were observed in the 22 patients. Fifteen (68%) of our patients were women, while seven (32%) were men. The mean age was 28.1 ± 15.4 (6-61) years. The most frequent locations were the thigh (27.2%) and the paravertebral region (13.6%). Most patients reported a painless slow-growing mass with normal overlying skin. Most (90.2%) cases were treated by surgical excision and fine-needle aspiration.CONCLUSIONS: Primary muscle hydatid cyst should be considered in the differential diagnosis in cystic masses of the muscular system without pain and localized enlargement of soft tissue, especially in endemic areas. Hydatid cyst should be investigated using serological tests and imaging modalities. If possible, total surgical excision of hydatid cyst in the muscle should be performed.

Radiographic aspects and angioarchitectural arrangements in corrosion casts of the blood supply to the human sternocleidomastoid muscle by the sternocleidomastoid branch of the occipital artery

The contribution of the sternocleidomastoid branch of the occipital artery (superior arterial pedicle - SAP) to the irrigation of the sternocleidomastoid muscle (SCM) was evaluated in fresh human cadavers by injecting radiological dye and a resin for microvasculature corrosion casts. From its insertion in the mastoid process of the temporal bone, the SCM was divided into superior, medium, and inferior thirds. In most of the SCM, The SAP are formed by two longitudinal parallel branches. In all specimens, the radiological dye injected into the SAP reached or trespassed the middle part of the studied SCM. The SAP was poorly distributed in the lowermost region of the inferior third of the SCM, suggesting the contribution of other arteries or pedicles. The corrosion casts of the microvasculature showed a profuse network of microscopic vessels in those levels where the SAP was detected.

Production and characterization of electrospun composite fibers: confinement of thermosensitive microgels

Materials engineering focuses on the assembly of materials´ properties to design new products with the best performance. By using sub-micrometer size materials in the production of composites, it is possible to obtain objects with properties that none of their compounds show individually. Once three-dimensional materials can be easily customized to obtain desired properties, much interest has been paid to nanostructured poly-mers in order to build biocompatible devices. Over the past years, the thermosensitive microgels have become more common in the framework of bio-materials with potential applicability in therapy and/or diagnostics. In addition, high aspect ratio biopolymers fibers have been produced using the cost-effective method called electrospinning. Taking advantage of both microgels and electrospun fibers, surfaces with enhanced functionalities can be obtained and, therefore employed in a wide range of applications. This dissertation reports on the confinement of stimuli-responsive microgels through the colloidal electro-spinning process. The process mainly depends on the composition, properties and patterning of the precur-sor materials within the polymer jet. Microgels as well as the electrospun non-woven mats were investigated to correlate the starting materials with the final morphology of the composite fibers. PNIPAAm and PNIPAAm/Chitosan thermosensitive microgels with different compositions were obtained via surfactant free emulsion polymerization (SFEP) and characterized in terms of chemical structure, morphology, thermal sta-bility, swelling properties and thermosensitivity. Finally, the colloidal electrospinning method was carried out from spinning solutions composed of the stable microgel dispersions (up to a concentration of about 35 wt. % microgels) and a polymer solution of PEO/water/ethanol mixture acting as fiber template solution. The confinement of microgels was confirmed by Scanning Electron Microscopy (SEM). The electrospinning process was statistically analysed providing the optimum set of parameters aimed to minimize the fiber diameter, which give rise to electrospun nanofibers of PNIPAAm microgels/PEO with a mean fiber diameter of 63 ± 25 nm.

Quantitative analysis of collagen and elastic fibers in the transversalis fascia in direct and indirect inguinal hernia

PURPOSE: Our previous studies demonstrated structural and quantitative age-related changes of the elastic fibers in transversalis fascia, which may play a role in inguinal hernia formation. To verify whether there were differences in the extracellular matrix between direct and indirect inguinal hernia, we studied the amount of collagen and elastic fibers in the transversalis fascia of 36 male patients with indirect inguinal hernia and 21 with direct inguinal hernia. MATERIAL AND METHODS: Transversalis fascia fragments were obtained during surgical intervention and underwent histological quantitative analysis of collagen by colorimetry and analysis of elastic fibers by histomorphometry. RESULTS: We demonstrated significantly lower amounts of collagen and higher amounts of elastic fibers in transversalis fascia from patients with direct inguinal hernia compared to indirect inguinal hernia patients. The transversalis fascia from direct inguinal hernia patients showed structural changes of the mature and elaunin elastic fibers, which are responsible for elasticity, and lower density of oxytalan elastic fibers, which are responsible for resistance. These changes promoted loss of resiliency of the transversalis fascia. CONCLUSION: These results improve our understanding of the participation of the extracellular matrix in the genesis of direct inguinal hernia, suggesting a relationship with genetic defects of the elastic fiber and collagen synthesis.

Adductor policis muscle: a new anthropometric parameter

PURPOSE: To measure the thickness of adductor pollicis muscle in healthy adults. This measurement will be used as a nutritional anthropometric parameter in further studies. SUBJECTS AND METHOD: Four hundred and twenty-one healthy adults were studied, 209 men and 212 women, with ages ranging from 18 to 87 years, living in Rio de Janeiro. The adductor pollicis muscle was also studied in the human anatomy lab as well as in normal healthy volunteers using CAT scans and nuclear magnetic resonance imaging to ensure that only the adductor pollicis was included in measurement of muscle thickness with a Lange caliper. To standardize the measurement, the methodology was detailed, with subjects sitting with the dominant hand dangling over the homolateral thigh and the elbow bent at approximately a 90° angle. The Lange caliper was applied at a pressure of 10 g/mm², pinching the adductor pollicis muscle at the vertex of an imaginary angle between the thumb and the index finger. The average of 3 consecutive measurements was considered to be the muscle thickness. RESULTS: This study provides the first estimates of adductor pollicis thickness in normal healthy subjects as an anthropometric parameter. The normal values in the dominant hand for men were 12.5 ± 2.8 mm (mean ± SD), median 12 mm, and for women were 10.5 ± 2.3 mm, median 10 mm.

The effect of the presence of muscle tissue in a bone healing site

PURPOSE: The recovery of a bone fracture is a process that is not yet fully understood. The literature conflicts on the results obtained by the interposition of foreign tissue inside a damaged bone. The objective of the present study was to ascertain the effect of placing muscle tissue between the stumps of a fractured bone. METHOD: The study was carried out on 10 rabbits divided into 2 groups (n = 5): Group 1-partial fracture of the humerus and interposition of muscle tissue; Group 2-complete fracture of the humerus and interposition of muscle tissue. The fractured limb of all animals was immobilized for 8 weeks. At the end of this time, the rabbits were killed and their operated humeri were carefully removed for roentgenological and histological assessment. RESULTS: All humeri of Group 1 recovered their integrity and normal aspect. However, the healing of the humeri of Group 2 was not perfect. Gross angulation of the bone diaphysis occurred in all animals, and immature trabecular bone, osteochondral tissue, and persistence of muscle tissue substituted normal bone. CONCLUSIONS: Interposed muscle does not affect partial bone fracture healing but causes instability in a complete fracture.

Development of biomimetic microengineered hydrogel fibers for tendon regeneration

Musculoskeletal diseases are one of the leading causes of disability worldwide. Tendon injuries are responsible for substantial morbidity, pain and disability. Tissue engineering strategies aim at translating tendon structure into biomimetic materials. The main goal of the present study is to develop microengineered hydrogel fibers through the combination of microfabrication and chemical interactions between oppositely charged polyelectrolytes. For this, methacrylated hyaluronic acid (MeHA) and chondroitin sulfate (MeCS) were combined with chitosan (CHT). Hydrogel fibers were obtained by injecting polymer solutions (either MeHA or MeHA/MeCS and CHT) in separate microchannels that join at a y-junction, with the materials interacting upon contact at the interface. To evaluate cell behavior, human tendon derived cells (hTDCs) were isolated from tendon surplus samples during orthopedic surgeries and seeded on top of the fibers. hTDCs adhered to the surface of the fibers, remaining viable, and were found to be expressing CD44, the receptor for hyaluronic acid. The synthesis of hydrogel fibers crosslinkable through both physical and chemical mechanisms combined with microfabrication technology allows the development of biomimetic structures with parallel fibers being formed towards the replication of tendon tissue architecture.

Tensile and bond characterization of natural fibers embeeded in inorganic matrices

Innovative composite materials made of continuous fibers embedded in mortar matrices have been recently received attention for externally bonded reinforcement of masonry structures. In this regards, application of natural fibers for strengthening of the repair mortars is attractive due to their low specific weight, sustainability and recycability. This paper presents experimental characterization of tensile and pull-out behavior of natural fibers embedded in two different mortar-based matrices. A lime-based and a geopolymeric-based mortar are used as sustainable and innovative matrices. The obtained experimental results and observations are presented and discussed.