Unveiling the Insular Lobe of Reil: Neurophysiological and Anatomical Features

The insular lobe has long been investigated, from its anatomical descriptions to its neurophysiological activity. Located in a central location, the insular lobe participates in several afferent and efferent pathways, forming part of the eloquent and fundamental structures that make up the central core of the brain. The lobe of the insula has participation in language function, such as speech, sensory (e.g., taste), limbic, autonomic (visceral), also forming part of complex associative circuits, including part of the circuits of mirror neurons. Several functional descriptions attributed to the insular lobe have beenmade in patients suffering fromcerebrovascular diseases, as well as in those with epilepsy. Much progress and many descriptions have also been made in patients with tumors. Despite much information already available about the insular lobe, it is likely that much will be discovered in the coming years.

Anatomia Microquirúrgica y Abordajes al Central Core Cerebral / Microsurgical Anatomy and Approaches to the Central Core Cerebral

Objetivos: A través del estudio cadavérico dividir al central core cerebral (CCC) en diferentes áreas y proponer para cada sector el abordaje neuroquirurgico correspondiente. Como objetivo secundario analizaremos la anatomía neuroquirúrgico cortical y subcortical del CCC. Introducción : El CCC es descripto como un bloque que descansa sobre el tronco del encéfalo. Incluye la ínsula, capsula extrema, claustro, capsula externa, núcleo lenticular, capsula interna, núcleo caudado y el tálamo. Material y Métodos: Se estudiaron 12 hemisferios cerebrales humanos adultos y una cabeza en el ­LaNeMic- de la Universidad de Buenos Aires, analizamos 9 casos de patologías neuroquirúrgicas del CCC y dibujos digitales de los abordajes propuestos para cada sector del CCC. Se tomaron fotografías de cada disección y las mediciones obtenidas con calibre digital. Resultados: Dividimos al CCC en un sector medial, intermedio y lateral; con subdivisiones específicas para el lateral y medial. La proyección lateral del foramen de Monro se encontró en el tercer giro corto de la ínsula con las distancias: MILA: 23,95 mm; MILP: 22,92 mm; SLS: 14,99 mm y SLI: 13,76 mm. Proponemos los siguientes abordajes: abordaje transcalloso homolateral, abordaje transcalloso contralateral, abordaje trans-fisura coroidea, abordaje trans-esplenial, acceso trans-parietal ingresando al surco intraparietal y abordaje trans-silviano. Discusión: Se deben analizar los estudios preoperatorios del paciente, comprendiendo las lesiones según la ubicación y de ese modo seleccionar el abordaje más preciso y seguro. Conclusiones: Se provee a través de este trabajo una descripción de los límites y anatomía del CCC, empleando disecciones cerebrales, análisis de casos operados y de medidas útiles para el neurocirujano.

Objectives: Through the cadaveric study, we divide the cerebral central core (CCC) in different areas and propose the corresponding neurosurgical approach for each sector. As a secondary objective, we will analyze the cortical and subcortical microsurgical anatomy of the CCC. Introduction: The CCC is described as a block that rests on the trunk of the brain. It includes the insula, extreme capsule, claustro, external capsule, lenticular nucleus, internal capsule, caudate nucleusand thalamus. Material and Methods: We studied 12 adult human brain hemispheres and one head in the -LaNeMic- of the University of Buenos Aires, analyzed 9 cases of CCC neurosurgical pathologies and digital drawings of the approaches proposed for each sector of the CCC. Photographs of each dissection and measurements obtained with digital caliber were taken. Results: We divide the CCC into a medial, intermediate and lateral sector; with specific subdivisions for the lateral and medial. The lateral projection of the foramen of Monro was found in the third short gyri of the insula with the distances: MILA: 23.95mm; MILP: 22.92mm; SLS: 14.99mm and SLI: 13.76mm. We propose the following approaches: ipsilateral transcallosal approach, contralateral transcallosal approach, choroidal trans-fissure approach, trans-splennial approach, trans-parietal access entering the intraparietal sulcus, and trans-silvian approach. Discussion: The preoperative studies of the patient should be analyzed, understanding the lesions according to the location and in this way selecting the most accurate and safe approach. Conclusions: A description of the limits and anatomy of the CCC is provided through this work, using brain dissections, analysis of operated cases and useful measurements for the neurosurgeon.

Participación política de mujeres y varones universitarias/os: Representaciones Sociales y brecha de género / Political participation of female and male university students: Social Representations and gender gap

La persistencia de la brecha de género es un tema controversial en los análisis sobre participación política (PP). Con el objetivo de aportar elementos a este debate, se revisan las áreas en que lo político y el género se atraviesan, así como aportes que el estudio de la PP y de las Representaciones Sociales (RS) pueden hacer a este campo. Seguidamente, se presenta una investigación realizada con mujeres y varones estudiantes universitarios/as (N=500) sobre PP, brecha de género y núcleo de las RS sobre política, democracia, políticos y participación. Los resultados muestran que la brecha varía entre repertorios e indicadores de comportamiento político. El análisis de RS permite suponer un posicionamiento diferencial de mujeres y varones ante objetos del campo político, tanto en el contenido cuanto en la organización. Los hallazgos permiten discutir algunos posicionamientos teóricos y sesgos androcéntricos conceptuales y metodológicos habituales en el campo de estudio.

Gender gap persistence is a controversial issue in political participation (PP) analyses. With the objective of contributing to this debate, we review the areas in which politics and gender are traversed, as well as the contributions that the PP and Social Representations (SR) studies can make to this field. Below, we present a research carried out with female and male university students (N=500) on PP, gender gap and nucleus of SR on politics, democracy, politicians, and participation. Results show a gap variation among different repertoires and indicators of political behavior. The analysis of SR allows supposing a differential positioning of women and men when facing objects of the political field, regarding to both content and organization. Our findings allow further discussing some theoretical positions and conceptual and methodological androcentric biases that are usual to this field of study.

Centronuclear myopathy: clinical characteristics and MRI image features of oral and maxillofacial region / 中华口腔医学杂志

Objective@#To provide biomechnical basis for orthodontics of centronuclear myopathy (CNM) patients, we studied the oral and maxillofacial clinical features and MRI image manifestations to explore application of MRI to objective evaluation the affected facial muscles.@*Methods@#The study consisted of 8 patients who were diagnosed as CNM (CNM group) and 20 healthy volunteers (control group). Their medical information were gathered and then we examined the ptosis situation and the facial index calculation of them. To measure the maximal hight of palate and the width of palate, patients and volunteers were made impressions. We also checked their maximum bite force with occlusion pressure tester. And they took lateral cephalometric radiographs to measure mandibular plane-Frankfort horizontal plane angle (MP-FH). At last, they were taken oral and maxillofacial region MRI to observe the affected situation of masseter muscle, medial pterygoid muscle and lateral pterygoid muscle.@*Results@#Six patients were ptosis; 6 patients had inverse V-shaped mouth; 3 patients were difficulty in swallowing; 4 patients were anterior open bites; 4 patients were mouth breathing; 7 patients liked to eat soft foods. Morphological facial index ([91.3±0.5]%), MP-FH (34.9°±2.0°) of CNM group were greater than the control group, male maximal hight of palate ([19.0±0.2] mm), female maximal hight of palate ([18.0±0.6] mm) of CNM group were greater than the control group (P<0.05). Male width of palate ([34.5±0.8] mm), female width of palate ([33.4±1.0] mm), male maximum bite force ([464.3±78.2] N), female maximum bite force ([320.7±13.8] N), maximal opening of mouth ([3.4±0.3] cm) of CNM group were less than the control group (P<0.05). And these had significant difference compared with the control group (P<0.05). In MRI examination, there were 7 patients' masseter muscles, 4 patients' medial pterygoid muscles and 6 patients' lateral pterygoid muscles to atrophy asymmetrically. These three pieces of muscular fatty infiltration were inordinately, focused on Grade 0 to 4 and the both sides were similar.@*Conclusions@#CNM patients with long and thin face, high palatine arches and low bite force together were the biomechanical basis of the maxillofacial deformities. MRI can clearly show the affected masseter muscle, medial pterygoid muscle, lateral pterygoid muscle, and can serve as an objective examination method for the evaluation of facial muscles. It can be worth of clinical popularization and application.

Multi-modality CT study about the impact of human urinary kallidinogenase (HUK) on collateral circulation and blood perfusion in patients with acute cerebral ischemia (ACI) / 中国神经精神疾病杂志

Objective To study the impact of human urinary kallidinogenase (HUK) on collateral circulation and blood perfusion in patients with acute cerebral ischemia (ACI) using multi-modality CT methods. Methods In a randomized controlled clinical trial, 75 patients diagnosed with ACI were enrolled and divided into experiment group (treated with HUK)and control group (untreated with HUK). All participants underwent computer technology perfusion (CTP) and computed tomographic angiography (CTA) examination before and fourteenth day after treatment. The CT cerebral perfusion imaging (CTP), CT cerebrovascular imaging (CTA) and National Institutes of Health Stroke Scale (NIHSS) score were analyzed in two groups. The NIHSS score, cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT), and time to peak (TTP) were compared between the two groups before and after 14 days therapy. Results ① After treatment, The two group showed increased CBF and CBV values and decreased MTT and TTP values. The CBF improvement was significantly better in the HUK-treated group than in the control group (t=2.470,P<0.05).②MTT and TTP were shorter in the HUK-treated group than in the control group (t=2.126, t=2.213, P<0.05).③ CTA maximum intensity projection (MIP) sequence revealed that the number of patients collateral vessels was significantly increased in the HUK-treated group than in the control group ( x2=4.265, P<0.05). ④The NIHSS score improvement was significantly better in the HUK-treated group after 14 days treatment than in the control group (t=4.330, P<0.05). Conclusion Human urinary kallidinogenase can improve blood perfusion and ameliorates neurological deficits. It is a safe and effective drug for treating ACI patients. The multi-modality CT methods are effective measure to assess blood perfusion and collateral circulation in patients with acute cerebral ischemia.

Clinical, pathological, imaging and genetic analysis of two cases of central core disease with different inheritance modes / 中国神经精神疾病杂志

Objective To study the clinical, pathological, imaging features of two cases of central core disease (CCD) with different inheritance and to explore the similarities and differences between autosomal recessive CCD (AR-CCD) and autosomal dominant CCD (AD-CCD). Methods Clinical manifestations, family history, muscle MRI and muscle biopsy were collected. Targeted next generation sequencing (NGS) and sanger sequencing were applied for genetic analysis. Co-segregation analysis was further conducted in one family. Results Their common clinical manifestations included childhood early-onset proximal limbs muscle weakness and dystrophy accompanied with facial involvement. The MRI revealed extensive muscular dystrophy and fatty filtration in the both thighs, but not in rectus femoris. Pathology of skeletal muscle showed typical central cores in type Ⅰ muscle fibers and eccentric cores only in AR-CCD. Targeted NGS identified 3 missense mutations in RYR1, including one novel mutation. Conclusion The present study has described clinical and pathological features of two typical CCD patients with different inheritance, which may be associated with the different mutations in RYR1 gene. Targeted NGS apparently improves the genetic diagnosis of CCD.

A abordagem estrutural das representações sociais e o modelo dos esquemas cognitivos de base: perspectivas teóricas e utilização empírica / The basic cognitive schemes: theorical perspectives and empirical research / Esquemas cognitivos de base: perspectivas teóricas y investigaciones empiricas

A abordagem estrutural das representações sociais é amplamente utilizada em pesquisas brasileiras, no entanto, existe o uso quase exclusivo da análise prototípica (ou análise das evocações livres). O modelo dos esquemas cognitivos de base, elaborado por Rouquette e Guimelli estuda, dentro da abordagem estrutural, as relações que ocorrem no pensamento social. Mais precisamente, este modelo estuda as relações entre os diferentes cognemas ativados por um objeto de representação. As relações são formalizadas por 28 conectores reagrupados em três famílias ou meta-esquemas; avaliação, descrição e prática. O modelo prevê a utilização de três índices, ou valências, para descrever o grau de ativação de cada meta-esquema na população estudada o que nos permite diagnosticar a forma de pensamento acerca do objeto. Mais precisamente as valências indicam as dimensões representacionais ativadas pelo o objeto na população. Estas dimensões podem ser descritivas, ligadas ao julgamento e avaliação ou relacionadas com as práticas do grupo em questão.

The structural approach to social representations is widely employed in Brazilian research. However, the studies use prototypical analysis (or free evocations analysis) almost exclusively. The basic cognitive schemes model proposed by Rouquette and Guimelli studies the relationships that take place in social thinking. More precisely, such model studies the relationships between the different cognems activated by a representation object. The relationships are formalized by 28 connectors regrouped in three families or meta-schemes; evaluation, description and practice. The model foresees the employment of three indexes, or valences, to describe the activation degree of each meta-scheme in the studied population, which makes it possible to diagnose the way of thinking about the object. These indexes aim at the dimension activated by the social object in the population. More specifically the indexes gives information about the presence of a descriptive dimension, of judgments and evaluation, and, at last, of social practices within the group.

El abordaje estructural de las representaciones sociales es ampliamente utilizado en investigaciones brasileñas, al punto que existe el uso casi exclusivo del análisis prototípico (o análisis de las evocaciones libres). El modelo de los esquemas cognitivos de base, elaborado por Rouquette y Guimelli, estudia dentro del abordaje estructural, las relaciones que se presentan en el pensamiento social. Más precisamente, este modelo estudia las relaciones entre los diferentes cognemas activados por un objeto de representación. Las relaciones son formalizadas por medio de 28 conectores, reagrupados em tres familias o metaesquemas: evaluación, descripción y práctica. El modelo prevé la utilización de tres índices o valencias para describir el grado de activación de cada metaesquema en la población estudiada, lo que nos permite diagnosticar la forma de pensamiento en relación con el objeto. Mas precisamente, nos permite tener informaciones sobre las dimensiones representaconales activadas: descritiva; los juízos y avaliaciones; la práxis de las personas estudiadas.

A representação social de formação continuada de professores de Educação Física da rede estadual do Espírito Santo / The social representation of continuing education for Physical Education teachers of the State of the Espirito Santo

Resumo A principal intenção deste texto é apresentar os resultados iniciais de uma investigação que buscou compreender a representação social dos professores de Educação Física da Rede Estadual do Espírito Santo em relação a sua formação continuada. Para tanto escolhe a grande teoria das Representações Sociais, especialmente devido à importância que ela atribui ao senso comum, que é uma das noções centrais para o conceito de representação social. Optando pela Abordagem Estrutural, que corresponde a uma das três correntes que compõem aquela teoria, levanta hipóteses sobre a representação social de formação continuada, tratando de sua organização interna e da dimensão cognitiva da mesma. Aponta para a ocorrência de um fenômeno atual que tem deslocado o núcleo central da representação social de formação continuada da aprendizagem para a qualificação tornando a busca por qualificação na formação continuada um atributo individual, de responsabilidade única e exclusiva do professor.

Abstract The main purpose of this text is to present the initial results of an investigation that aimed at understanding the social representation of the Physical Education teachers belonging to State School System in the State of Espírito Santo regarding its continuing formation. To do so, the great theory of Social Representations was chosen, especially due to the importance it attributes to the common sense, which is considered one of the central notions for the concept of social representation. Opting for the Structural Approach, which corresponds to one of the three chains that compose such theory, it raises hypothesis about the social representation of continuing formation, dealing with its internal organization and cognitive dimension. It indicated for the occurrence of a current phenomenon that has been displacing the central nucleus of social representation of the learning continuing formation to the qualification, making the search for qualification regarding continuing formation as an individual attribute with sole and exclusive Teacher's responsibility.

Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region

BACKGROUND: Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) have been identified in most CCD patients. CASE REPORT: Two unrelated patients presented with slowly progressive or nonprogressive proximal muscle weakness since childhood. Their family history revealed some members with the same clinical problem. Histological analysis of muscle biopsy samples revealed numerous peripheral cores in the muscle fibers. RYR1 sequence analysis disclosed a novel mutation in exon 101 (c.14590T>C) and confirmed a previously reported mutation in exon 102 (c.14678G>A). CONCLUSIONS: We report herein two families with CCD in whom missense mutations at the C-terminal of RYR1 were identified. Although it has been accepted that such mutations are usually associated with a severe clinical phenotype and clearly demarcated central cores, our patients exhibited a mild clinical phenotype without facial muscle involvement and skeletal deformities, and atypical cores in their muscle biopsy specimens.

Representações sociais de estudantes da UFBA sobre as cotas universitárias / Social representations of students from FUBA about the university quotas

Neste estudo foram investigadas as representações sociais dos estudantesuniversitários a respeito das cotas universitárias. A amostra, selecionada por conveniência, contou com 66 estudantes da Universidade Federal da Bahia (UFBA) que responderam umquestionário com duas questões de evocação e duas questões abertas. Os dados das duas primeiras questões foram analisados através do EVOC, buscando identificar, principalmente, ocritério de saliência das evocações; e os das duas últimas por meio do ALCESTE, procurando colher material para análise lexical. Os resultados mostraram que os estudantes apresentam uma tendência a uma representação racializada das cotas, acreditando que estas são reservadas principalmente a estudantes negros. Neste sentido, os estudantes enfatizam a adesão de cotas sociais e não raciais, acreditando ser este o modo mais justo, apesar de na UFBA terem,primeiramente, um caráter socioeconômico. Na defesa de cotas sociais e não raciais, os argumentos dos que são contra ou a favor (tanto raciais quanto sociais) não possuem diferençasfundamentais quando investigado sobre a representação social das cotas universitárias.

This study investigated the social representations of college students about the quotas at the university. The sample selected for convenience, included 66 students from the Federal University of Bahia (FUBa) who answered a questionnaire with two questions of evocation and two open questions. Data from the first two questions were analyzed using theEVOC, seeking to identify, mainly, the criteria of salience of evocations, and the last two by ALCESTE, looking for material for lexical analysis. The results showed that students have a racialized representation of quotas, believing that these ones are reserved primarily to black students. In this sense, students emphasize adopting social and not racial quotas, believing this to be the fairest way, despite the quotas in FUBa have a socioeconomic character, first. In defense of social and not racial quotas, the arguments of those who are against or in favor of quotas (both racial as social) do not have fundamental differences when investigated about the social representation of university quotas.

Social Representations: A Review of Theory and Research from the Structural Approach / Representaciones sociales: una revisión de la teoría y las investigaciones desde el enfoque estructural

The present paper is a review of the theoretical advances and empirical findings related to social representations according to the structural approach, a research stream that aims at studying the influence of social factors in thinking processes through the identification and characterization of relationship structures. The presentation of the approach begins with the baseline definitions of social representations according to a structural approach, moving on to an overview on the nature of representation elements, the relationships between representations and practices, cognitive scheme dimensions, central core theory, representation transformations and interaction context effects. In addition to positioning ourselves concerning polemic topics during the review, in the final section we evaluate briefly the current state and future perspectives of structural research on social representations, mostly addressing the problem of defining consensus, the difficulty of characterizing a collective construct from individual data, and the secondary importance of content in structural laws.

Este artículo es una revisión de los avances teóricos y los hallazgos empíricos relacionados con las representaciones sociales de acuerdo con el enfoque estructural, una corriente de investigación que tiene como objetivo estudiar la influencia de factores sociales en los procesos de pensamiento a través de la identificación y caracterización de relaciones estructurales. La presentación del enfoque comienza con las definiciones básicas de las representaciones sociales de acuerdo con el enfoque estructural, pasando a la naturaleza de los elementos de representación, las relaciones entre las representaciones y prácticas, las dimensiones de esquemas cognitivos, la teoría del núcleo central, las transformaciones de representación y efectos de los contextos de interacción. Además de comentar algunos temas controversiales en la revisión, en la sección final se evalúa brevemente la situación actual y perspectivas de la investigación estructural de las representaciones sociales, principalmente relacionadas con el problema de definir el consenso, la dificultad de caracterizar una construcción colectiva a partir de datos individuales y la importancia secundaria del contenido en las leyes estructurales.

Progress on genotypic and phenotypic features of central core disease / 国际儿科学杂志

Central core disease (CCD) is a dominantly inherited congenital myopathy,manifesting as static or slowly progressive weakness ofproximal muscles.Histological characteristics on muscle biopsy are the well defined areas devoid of oxidative enzyme stains.Ryanodine receptor 1 gene mutations are associated with CCD.Great progress has been made in recent years about the RYR1 gene mutaion and the clinical feature of CCD.Genotypic and Phenotypic variations of RYR1 related CCD are reviewed.

Characteristic Muscle Involvement on Magnetic Resonance Imaging in Central Core Disease

Central core disease (CCD) is a rare congenital myopathy characterized by central cores on muscle biopsy. We present three familial cases of CCD. The muscle pathology manifested as a predominance of type 1 muscle fibers and highly oxidative fibers with central cores. Muscle MRI showed selective involvement of the sartorius, vastus lateralis, and adductor magnus muscles. We suggest that muscle MRI can be used as an additional tool in the diagnosis of CCD.

Aproximación a la representación social de vida cotidiana en jóvenes argentinos desde una perspectiva estructural / An approach to every day social representations from a structural point of view

Este artículo describe la representación social de la vida cotidiana de jóvenes entre 20 y 30 años, de distintos niveles socio-económicos, combinando un abordaje procesual y otro estructural. Se presentan resultados preliminares sobre la estructura -núcleo central y elementos periféricos- de la representación social de vida cotidiana. Se administró un cuestionario de datos sociodemográficos construido ad hoc, la evocación jerarquizada de palabras y una escala Likert sobre vida cotidiana, realizada a partir de las entrevistas en profundidad de la primera etapa de la investigación. Las asociaciones libres jerarquizadas se analizaron a través del software SPSS 11.5. Los resultados indican la centralidad de la representación social de la familia y de los vínculos afectivos cercanos. Las actividades denotan la existencia de contradicciones entre diferentes niveles sociales, teniendo mayor dispersión las calificaciones individuales con asociaciones semánticamente opuestas que pueden responder a la presencia de grupos minoritarios y representaciones sociales polémicas.

This article describes everyday life social representations of young people, ages between 20 and 30 years old, of different social-economic levels, combining a processual and a structural approach. Preliminary results about the identification of the structure - the central core and the periphery elements - of everyday life social representation are presented. A sociodemographic data questionnaire constructed ad hoc, an hierarchical words evocation and a Likert scale on everyday life, constructed starting from depth interviews fulfilled in the first research stage, were administered. Free hierarchical associations were analyzed with the SPSS 11.5 software. The results show the centrality of family and near affective bonds social representations. The activities indicate the existence of contradictions between different social levels. There is a higher dispersion of individual judgments with opposite semantic associations which show the presence of minority groups and polemic social representations.

A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy

BACKGROUND AND PURPOSE: At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying multiminicore myopathy in an MH and/or CCD family have been reported only rarely. METHODS: Fifty-three members of a large MH family were investigated with clinical, histopathologic, RYR1 mutation, and haplotyping studies. Blood creatine kinase (CK) and myoglobin levels were also measured where possible. RESULTS: Sequencing of the entire RYR1 coding region identified a double RYR1 mutation (R2435H and A4295V) in MH/CCD regions 2 and 3. Haplotyping analysis revealed that the two missense heterozygous mutations (c.7304G>A and c.12891C>T) were always present on a common haplotype allele, and were closely cosegregated with histological multiminicores and elevated serum CK. All the subjects with the double mutation showed elevated serum CK and myoglobin, and the obtained muscle biopsy samples showed multiminicore lesions, but only two family members presented a late-onset, slowly progressive myopathy. CONCLUSIONS: We found multiminicore myopathy with clinical and histological variability in a large MH family with an unusual double RYR1 mutation, including a typical CCD-causing known mutant. These results suggest that multiminicore lesions are associated with the presence of more than two mutations in the RYR1 gene.

Morbidity of Malignant Hyperthermia in Central Core Disease Patients Undergoing Orthopedics / 中国康复理论与实践

@#ObjectiveTo investigate the incidence of skeletal and/or articular malformations in central core disease (CCD) patients, and their risk of malignant hyperthermia (MH) in orthopedics. Methods28 unrelated patients with central core disease collected in the past 23 years were analyzed retrospectively. Results22 patients showed limb muscle weakness, while 6 patients didn't show any clinical symptom. Skeletal and/or articular malformations appeared in 21 patients, including joint contracture in 11, joint dislocation in 9, scoliosis in 12, lordosis in 5 and thoracic deformity in 1. 6 of the 10 patients could not endure orthopedic operation because of MH attack or dubitable MH attack. Calcium-induced calcium release (CICR) test performed on other 8 patients with MH family history or MH attack showed all those patients were MH susceptibilities. ConclusionSkeletal and/or articular malformations are common in CCD, as well as MH attack in orthopedics.

Central Core Disease: A Case Report

Central core disease is a rare autosomal dominantly inherited non-progressive congenital myopathy, which is pathologically characterized by the formation of a "core". We report a 28-year-old female with non-progressive muscle weakness, who had a hypotonic posture at birth. The developmental milestones were delayed with her first walking at 18 months of age. She could not run or walk a long distance and weight-bearing tasks were almost impossible. None of her family members showed motor symptoms. An investigation of the electromyography and nerve conduction velocity showed non-specific results. A gastrocnemius muscle biopsy revealed central cores in approximately 70% of myofibers with a type 1 myofiber predominance and deranged sarcolemmal structures. To the best of our knowledge, this is the fifth report of central core disease in the Korean literature.

Central core disease

Central core disease is a rare congenital myopathy characterized by the formation of cores that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.