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.

Injuries and envenoming by aquatic animals in fishermen of Coxim and Corumbá municipalities, state of Mato Grosso do Sul, Brazil: identification of the causative agents, clinical aspects and first aid measures

INTRODUCTION: The fishes of continental Brazil have socioeconomic importance due to their potential for sport fishing and commercial and subsistence uses, as seen in the Upper Paraguay River Basin, particularly in the municipalities of the Pantanal region, where it is the second largest economic activity. Injuries caused in professional fishermen are common and poorly studied, as in other regions of the country. METHODS: Data were obtained from questionnaires and interviews with 100 professional fishermen, 50 in each municipality, between December 2008 and October 2009. RESULTS: All the fishermen reported some kind of injury caused by fish stings (78% of injuries) and fish, alligator and snake bites (22%) on the hands (46% of cases) and feet (35% of cases). Most of the patients had mild symptoms. The most severe cases were associated with secondary bacterial infections and required specific treatment and prolonged recovery associated with social and economic losses. CONCLUSIONS: The results of this study indicate that the stressful work conditions, inattention to basic preventive measures and carelessness were factors that contributed to accidents and that the toxicity and ability to inflict mechanical trauma of some aquatic species, plus the ineffective use of first aid and hospital treatment, contributed to the high morbidity and complications in many cases. Data from this study are relevant to the fishing communities of the Pantanal region, since they reveal high rates of accidents, lack of knowledge concerning first aid, initial treatment, injury prevention and lack of medical follow-up of the population.

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.

Observation of initial clinical manifestations and repercussions from the treatment of 314 human injuries caused by black sea urchins (Echinometra lucunter) on the southeastern Brazilian coast

INTRODUCTION: Injuries caused by sea urchins are the most common caused by marine animals in humans in Brazil, with the black sea urchin (Echinometra lucunter) causing the most injuries to bathers. METHODS: This study observed 314 human wounds with emphasis on the early observation of clinical signs and symptoms and their implications on the recommended treatment. RESULTS: All the injuries were caused by black sea urchins and were observed in bathers. The lesions and the pain were associated with penetration of the spines; there was no early inflammation or pain without pressure on the wounded places. Complications arising from this kind on injury, including infections and foreign body granulomas, are associated with the permanence of the spines in the wounds. CONCLUSIONS: The study confirmed that this kind of injury is the most common accident caused by aquatic animals in Brazil. The main therapeutical recommendation is early removal of the spines to prevent late complications, such as infections and the formation of foreign body granulomas.

Injuries caused by aquatic animals in Brazil: an analysis of the data present in the information system for notifiable diseases

AbstractINTRODUCTION:We present a review of injuries in humans caused by aquatic animals in Brazil using the Information System for Notifiable Diseases [ Sistema de Informação de Agravos de Notificação (SINAN)] database.METHODS:A descriptive and retrospective epidemiological study was conducted from 2007 to 2013.RESULTS:A total of 4,118 accidents were recorded. Of these accidents, 88.7% (3,651) were caused by venomous species, and 11.3% (467) were caused by poisonous, traumatic or unidentified aquatic animals. Most of the events were injuries by stingrays (69%) and jellyfish (13.1%). The North region was responsible for the majority of reports (66.2%), with a significant emphasis on accidents caused by freshwater stingrays (92.2% or 2,317 cases). In the South region, the region with the second highest number of records (15.7%), jellyfish caused the majority of accidents (83.7% or 452 cases). The Northeastern region, with 12.5% of the records, was notable because almost all accidents were caused by toadfish (95.6% or 174 cases).CONCLUSIONS:Although a comparison of different databases has not been performed, the data presented in this study, compared to local and regional surveys, raises the hypothesis of underreporting of accidents. As the SINAN is the official system for the notification of accidents by venomous animals in Brazil, it is imperative that its operation be reviewed and improved, given that effective measures to prevent accidents by venomous animals depend on a reliable database and the ability to accurately report the true conditions.

Venomous and poisonous arthropods: identification, clinical manifestations of envenomation, and treatments used in human injuries

Abstract This review presents the main species of venomous and poisonous arthropods, with commentary on the clinical manifestations provoked by the toxins and therapeutic measures used to treat human envenomations. The groups of arthopods discussed include the class Arachnida (spiders and scorpions, which are responsible for many injuries reported worldwide, including Brazil); the subphylum Myriapoda, with the classes Chilopoda and Diplopoda (centipedes and millipedes); and the subphylum Hexapoda, with the class Insecta and the orders Coleoptera (beetles), Hemiptera (stink bugs, giant water bugs, and cicadas), Hymenoptera (ants, wasps, and bees), and Lepidoptera (butterflies and moths).

Isokinetic assessment of the flexor-extensor balance of the knee in athletes with total rupture of the anterior cruciate ligament

The purpose of this study was to assess the flexor-extensor group of muscles of the knee in young athletes diagnosed with a total rupture of the anterior cruciate ligament (ACL). Eighteen knees of 18 athletes (14 men and 4 women) with an average age of 21.6 years (range 16-32 years) were assessed with a Cybex 6000 model isokinetic apparatus. The average interval between occurrence of the injury and assessment was 10.2 months (range 2 - 48 months). There was an associated meniscal injury in eight of the knees. Athletes with any other kind of associated injury, limitation, or blockage of the movement of the joint, significant pain during the exam, or interval between injury and exam of less than two months were excluded from the study. The parameters studied were the peak torque-velocity and flexor-extensor relationships at the constant angular velocities of 60°/sec and 240°/sec. Previous warming-up was done by means of an ergometric bicycle and adaptation with 3 submaximal repetitions. The contra-lateral side, which presented no injury, was used as control. Peak torque (PT) at the constant velocity of 60°/sec was greater than that at 240°/sec for knees with and without injuries. However, there was no significant difference between the injured and uninjured sides at 60°/sec or at 240°/sec. The average value for the flexor-extensor relationship at 60°/sec on the injured was 60% (( 6), compared to 57% (( 10) on the contra-lateral side. At 240°/sec, the average value was 75% ((10) on the injured side, and 65% ((12) on the contra-lateral side. In conclusion, despite the complete rupture of the ACL of one knee, the average values for the flexor-extensor relationship were similar on the injured and uninjured sides at the velocity of 60°/sec. As the velocity increased, an increase in the values for the flexor-extensor relationship of the knee also occurred, indicating a tendency of the performance of the flexor muscle group to approach that of the extensor muscle group, and this tendency was more pronounced on the side of the injury.

Indicators of inflammation and cellular damage in chronic asymptomatic or oligosymptomatic alcoholics: correlation with alteration of bilirubin and hepatic and pancreatic enzymes

Biochemical and hematimetric indicators of inflammation and cell damage were correlated with bilirubin and hepatic and pancreatic enzymes in 30 chronic male alcoholics admitted into psychiatric hospital for detoxification and treatment of alcoholism. Aspartate aminotransferase, alanine aminotransferase, gamma-glutamyltransferase, alkaline phosphatase, and total bilirubin were altered, respectively, in 90%, 63%, 87%, 23% and 23% of the cases. None of the indicators of inflammation (lactic dehydrogenase, altered in 16% of the cases; alpha-1 globulin, 24%; alpha-2 globulin, 88%; leucocyte counts, 28%) was correlated with alterations of bilirubin or liver enzymes. Lactic dehydrogenase was poorly sensitive for detection of hepatocytic or muscular damage. Alterations of alpha-globulins seemed to have been due more to alcohol metabolism-induced increase of lipoproteins than to inflammation. Among indicators of cell damage, serum iron, increased in 40% of the cases, seemed to be related to liver damage while creatine phosphokinase, increased in 84% of the cases, related to muscle damage. Hyperamylasemia was found in 20% of the cases and significantly correlated with levels of bilirubin, alkaline phosphatase and gamma-glutamyltransferase. It was indicated that injuries of liver, pancreas, salivary glands, and muscle occurred in asymptomatic or oligosymptomatic chronic alcoholics.

Effect of hyperbaric oxygen on the regeneration of experimental crush injuries of nerves

Hyperbaric oxygen has been successfully used on treatment of acute ischemic injuries involving soft tissues and chronic injuries. In nerve crush injuries, the mechanisms involved are very similar to those found in ischemic injuries. Consequently, it is logical to hypothesize that hyperbaric oxygen should improve nerve repair, which is a critical step on functional recovery. In the present study, we created standard nerve crush injuries on sciatic nerves of rats, which underwent treatment with hyperbaric oxygen. Results were assessed by functional evaluation using walking-track analysis. The functional recovery indexes observed did not differ from control group. We concluded that hyperbaric oxygen therapy, in the schedule used, had no influence on functional recovery after nerve crush injuries.

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.

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.

Lean Production e Ergonomia: o impacto de estratégias implementadas nas condições de trabalho numa indústria de componentes para automóveis

Dissertação de mestrado em Engenharia Humana

ACL injuries identifiable for pre-participation imagiological analysis: Risk factors

Identification of pre-participation risk factors for noncontact anterior cruciate ligament (ACL) injuries has been attracting a great deal of interest in the sports medicine and traumatology communities. Appropriate methods that enable predicting which patients could benefit from pre- ventive strategies are most welcome. This would enable athlete-specific training and conditioning or tailored equipment in order to develop appropriate strategies to reduce incidence of injury. In order to accomplish these goals, the ideal system should be able to assess both anatomic and functional features. Complementarily, the screening method must be cost-effective and suited for widespread application. Anatomic study protocol requiring only standard X rays could answer some of such demands. Dynamic MRI/CT evaluation and electronically assisted pivot-shift evaluation can be powerful tools providing complementary information. These upcoming insights, when validated and properly combined, envision changing pre-participation knee examination in the near future. Herein different methods (validated or under research) aiming to improve the capacity to identify persons/athletes with higher risk for ACL injury are overviewed. 

Effects of protein-calorie restriction on mechanical function of hypertrophied cardiac muscle

OBJECTIVE: To assess the effect of food restriction (FR) on hypertrophied cardiac muscle in spontaneously hypertensive rats (SHR). METHODS: Isolated papillary muscle preparations of the left ventricle (LV) of 60-day-old SHR and of normotensive Wistar-Kyoto (WKY) rats were studied. The rats were fed either an unrestricted diet or FR diet (50% of the intake of the control diet) for 30 days. The mechanical function of the muscles was evaluated through monitoring isometric and isotonic contractions. RESULTS: FR caused: 1) reduction in the body weight and LV weight of SHR and WKY rats; 2) increase in the time to peak shortening and the time to peak developed tension (DT) in the hypertrophied myocardium of the SHR; 3) diverging changes in the mechanical function of the normal cardiac muscles of WKY rats with reduction in maximum velocity of isotonic shortening and of the time for DT to decrease 50% of its maximum value, and increase of the resting tension and of the rate of tension decline. CONCLUSION: Short-term FR causes prolongation of the contraction time of hypertrophied muscles and paradoxal changes in mechanical performance of normal cardiac fibers, with worsening of the shortening indices and of the resting tension, and improvement of the isometric relaxation.