An etiogeno-pathological study on Kashin-Beck disease / 西安交通大学学报(医学版)

【Objective】 To find and identify the cause of Kashin-Beck disease (KBD). 【Methods】 We reviewed the bone slices of the KBD autopsy cases preserved in our institute, and observed the leukocyte lesions in peripheral blood smears of KBD children under a light microscope and ultrastructural lesions of leukocytes in KBD children under an electron microscope. We also observed the damages in cultured chondrocytes induced by plasma of children with KBD in an experiment. 【Results】 From the chondrocytes, bone marrow blood cells in KBD autopsy cases and leukocytes of KBD children, the entire pathological process in all the three type cells showed the same specific coagulation necrosis: the nucleus was enlarged; eosinophilic red inclusion bodies in varying sizes appeared in the nucleus, which were accompanied by dissolution and decrease of nuclear chromatin. If the lesion continued to deteriorate and progress, the entire nucleus would transform into a large red mass, and then subsequent series of changes of the inclusion bodies occurred; the cell body shrank and the cytoplasm was stained red. The cultured chondrocytes had replicated a cytopathic model equivalent to specific chondrocyte necrosis in the autopsy cases of KBD, and the viral nucleocapsids were detected in the nuclei of the cultured chondrocytes, with outcomes induced by plasma of the KBD children in the experiment. The same viral nucleocapsids as previously mentioned were also found in the nuclei of the white blood cells of the children with KBD. In the bone marrows of the autopsy cases, hyperemia, edema, fibrin exudation, focal necrosis of hematopoietic matrix and trabecular bone, and fibrosis all appeared. 【Conclusion】 The inclusion body formations were showed in the nuclei of necrotic chondrocytes, bone marrow blood cells of KBD autopsy cases, and in the nuclei of leukocytes in peripheral blood smears of KBD children. The inclusion body formation is the most well-known pathomorphological result of the viral cytocidal infection. Especially important is the positive results of cultured chondrocytes induced by plasma of KBD children in the experiment. What caused the necrosis of the three types of cells in KBD seems to be the twice-detected virus nucleocapsids, suggesting that this virus may have been the cause of KBD. There was an acute osteomyelitis with infectious delayed hypersensitivity in the bone marrows of the autopsy cases of KBD. KBD is a systemic infectious disease caused by the virus. All lesions in the cartilage, bone marrow, and blood are only parts of the systemic lesions.

An emerging role of platelet-rich plasma and hyperbaric oxygen in the management of inclusion body myositis: a case report

Inclusion body myositis is an uncommon inflammatory myopathy that causes progressive muscle weakness. Patient management includes immunosuppressant therapy and nonpharmacologic therapies, like physical, occupational, and speech therapy. Standard treatment plans focus on the maintenance of muscle strength and function. Many patients do not respond to pharmacologic therapies and due to the progressive nature of this myopathy,patients eventually become debilitated. Hyperbaric oxygen therapy and platelet-rich plasma injections were provided as adjunctive therapy to a 70-year-old female patient with inclusion body myositis. After treatment, she had improvement in her muscle function and improved ambulation. This case study highlights the impact of adjunctive therapy in a patient with inclusion body myositis.

Miositis por cuerpos de inclusión esporádica / Sporadic inclusion body myositis

A pesar de ser la miopatía primaria más frecuente en hombres mayores de 50 años de edad, la miositis por cuerpos de inclusión (MCI) esporádica es una enfermedad rara. En muchas ocasiones su diagnóstico es retrasado por lo que se refuerza la importancia de una adecuada valoración clínica e indicación oportuna de estudios complementarios. En el presente artículo se presenta un caso que tiene la distinción de presentarse en un paciente mestizo, sin afectación demostrada en flexores profundos de las manos y con elementos de gravedad, determinadas por la presencia de disfagia alta funcional y disnea a la posición de decúbito supino. En la revisión realizada no se recogen hasta el presente reportes en publicaciones de esta enfermedad en Cuba. Clínicamente, la afección se caracteriza por debilidad muscular combinada distal y proximal, electromiografía (EMG) con alteración mixta neuropática y miopática, y escasa respuesta a la terapia inmunosupresora. La biopsia de músculo ayuda a establecer el diagnóstico definitivo al demostrar la presencia de inclusiones distintivas en las fibras musculares. El pronóstico es sombrío al mostrar un comportamiento progresivo con afectación de la calidad de vida y llevar a una discapacidad física avanzada(AU)

Despite being the most common primary myopathy in men over 50 years of age, sporadic inclusion body myositis (ICM) is a rare disease. On many occasions its diagnosis is delayed, which is why the importance of an adequate clinical assessment and timely indication of complementary studies is reinforced. This article reports a case that has the peculiarity of affecting a mestizo patient, with no established involvement in the deep flexors of his hands and with elements of severity, determined by the presence of high functional dysphagia and dyspnea in the supine position. There have not been publication reports on this disease in Cuba. Clinically, the condition is characterized by combined distal and proximal muscle weakness, electromyography (EMG) with mixed neuropathic and myopathic impairment, and poor response to immunosuppressive therapy. Muscle biopsy helps establish the definitive diagnosis by demonstrating the presence of distinctive inclusions in the muscle fibers. The prognosis is bleak, showing progressive behavior affecting quality of life and leading to advanced physical disability(AU)

Síndrome de Sjögren primario que debuta con polimiositis mitocondrial, neuropatía axonal y parálisis hipopotasémica: reporte de caso / Onset of primary Sjögren syndrome with mitochondrial polymyositis, axonal neuropathy, and hypokalaemic paralysis: Case report

RESUMEN El síndrome de Sjögren es una entidad multisistémica de naturaleza autoinmune, clásicamente considerada una exocrinopatía debido a la alta frecuencia de síntomas secos (queratoconjuntivitis seca, xerostomía) como resultado de infiltración poliglandular por linfocitos autorreactivos. Sin embargo, menos del 10% de estos pacientes puede iniciar con manifestaciones extraglandulares severas, traducidas en peores desenlaces a largo plazo. Se presenta el caso de una gestante que inició con síndrome de debilidad aguda proximal relacionada con miositis con enfermedad mitocondrial e hipopotasemia severa, en el contexto de acidosis tubular renal distal, como manifestación extraglandular de síndrome de Sjögren primario. Se discuten brevemente manifestaciones neurológicas de esta entidad, incluyendo aquellas secundarias a trastornos metabólicos precipitados por compromiso autoinmune.

ABSTRACT Sjögren's syndrome is a multisystemic autoimmune disorder. It is classically considered as an exocrine disease, given the high frequency of dry symptoms (keratoconjunctivitis sicca, xerostomia) as a result of poly-glandular infiltration by autoreactive lymphocytes. However, less than 10% of these patients can onset with severe extra-glandular manifestations, resulting in worse long-term outcomes. The case of a pregnant woman is presented, who debuted with acute proximal weakness syndrome related to myositis with mitochondrial pathology and severe hypokalaemia in the context of distal renal tubular acidosis, as an extra-glandular manifestation of primary Sjögren's syndrome. Neurological manifestations of this condition are briefly discussed, including those secondary to metabolic disorders precipitated by autoimmune compromise.

Prokaryotic expression, purification and characterization of tissue inhibitor of metalloproteinase-2 / 生物工程学报

Tissue inhibitor of metalloproteinases-2 (TIMP-2) inhibits tumor migration and invasion. Obtaining TIMP-2 protein is conducive to a comprehensive and in-depth study of its function and mechanism in tumorigenesis and development. We collected human TIMP-2 protein through prokaryotic expression in vitro. We expressed, purified and characterized human TIMP-2 protein. First, the human TIMP-2 gene was cloned from the cDNA obtained by reverse transcription of total RNA of human lung cancer A549 cells, and constructed to pET28a vector. The recombinant plasmid pET28a-TIMP-2 was transformed into Escherichia coli BL21(DE3) after restriction endonuclease digestion and sequencing analysis. The expression of TIMP-2 protein was induced by isopropyl-β-D-thiogalactoside (IPTG), and the expression conditions were optimized. After purification by nickel affinity column, the fusion protein His-TIMP-2 was identified by Western blotting method and its biological activity was detected by gelatin zymography. The fusion protein His-TIMP-2 existed in the form of inclusion body in E. coli. In a certain range, the concentration of IPTG had no significant effect on the expression amount of His-TIMP-2. But in this expression system, induction temperature and time were the key parameters, and the expression amount of His-TIMP-2 in E. coli increased with the increase of induction temperature. The purified and refolded fusion protein could effectively inhibit the activity of matrix metalloproteinases expressed by human lung cancer A549 cells. The acquisition of active fusion protein lays a foundation for further study of the function and mechanism of human TIMP-2, and is of great significance for tumor therapy.

Investigating the role of Ebp1 in Chandipura virus infection

ErbB-3 binding protein 1 (Ebp1) is a host protein which binds ErbB-3 receptor to induce signalling events for cell growthregulation. In addition, Ebp1 also interacts with ribonucleoprotein complexes. In recent times, Ebp1 was found to play anantagonistic role in viral infections caused by Influenza and Rinderpest viruses. In our present work we have tried tounderstand the role of Ebp1 in Chandipura virus (CHPV) infection. We have observed an induction in Ebp1 expressionupon CHPV infection similar to other viruses. However, unlike other viruses an overexpressed Ebp1 only reduces viralprotein expression, but does not affect its progeny formation. Additionally, this effect is being carried out in an indirectmanner, as there is no interaction between Ebp1 and viral proteins. This is despite Ebp1’s presence in viral inclusion bodies.

A study on demographic pattern of idiopathic inflammatory myopathies in a tertiary care hospital

Background: Idiopathic inflammatory myopathies (IIMs) are a group of chronic systemic autoimmune diseases characterized by proximal muscle weakness and elevated muscle enzymes. Aim and Objective was to analyze the demographic profile of patients with idiopathic inflammatory myopathies (IIM).Methods: This was a cross sectional observational study conducted over a period of two years (2016-2018). After obtaining institutional ethical committee clearance, informed consent from patients. 16 patients who fulfilled the criteria were included in the study. The demographic and the clinical data were analysed.Results: The mean age was 47.3±11.2 years. The study showed female predominance. ANA was positive in 11(68.7%) patients. Among the 16 patients, 5 (31.25%) had polymyositis and 11 (68.7%) had dermatomyositis. The median enzymes levels were creatinine kinase 1134 U/L, lactic dehydrogenase 477U/L, ALT (alanine aminotransferase) 154 IU/L, AST (aspartate aminotransferase) 236IU/L. Raynaud's phenomenon was seen in 37.5%. In our study, 31.25% had hypothyroidism and 6.25% had diabetic mellitus. On follow up 37.5% developed interstitial lung disease (ILD) and 18.75% were found to have malignancy.Conclusions: Steroids and immunomodulators are the mainstay of treatment in patients with idiopathic inflammatory myositis. All our patients improved with steroids. It is important to evaluate these patients during early stages and follow up to prevent complications.

Miopatías inflamatorias idiopáticas: una mirada actualizada al diagnóstico y el manejo / Idiopathic inflammatory myopathies: a review

Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of acquired immune-mediated diseases, which typically involve the striated muscle with a variable involvement of the skin and other organs. Clinically, they are characterized by proximal muscle weakness, elevation of muscle enzymes, myopathic changes on electromyography and an abnormal muscle biopsy. The different IIM have been classified according to their distinctive histopathologic features in dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and immune-mediated necrotizing myopathy (IMNM). Several myositis-specific antibodies are associated with the different phenotypes, as well as with different risk of neoplastic disease and systemic complications. The basis for the treatment of DM, PM, and IMNM is immunosuppression. For IBM there are only symptomatic treatments. Steroids, associated or not with other immunosuppressant drugs, are the first line of treatment. Biologic drugs will allow future individualized therapies. The 10-year survival of DM, PM and IMNM is 62 to 90%. The leading causes of death are neoplastic, lung and cardiac complications. IBM does not impair survival, although it affects the quality of life.

Idiopathic inflammatory myopathy / 中华神经科杂志

Idiopathic inflammatory myopathies (IIM) are a group of acquired immune myopathy,which mainly include polymyositis,dermatomyositis,amyopathic dermatomyositis,sporadic inclusion body myosistis (sIBM) and immune-mediated necrotizing myopathy,as well as some special types of antisynthetase syndrome,anti-signal recognition particle antibody positive necrotizing myopathy (NM),anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positive NM.The diagnosis of these different types of IIM mainly depends on clinical manifestations,antibody detection and muscle pathological techniques.Different types of IIM have different clinical manifestations,or overlapping manifestations.This article systematically describes the evolution of IIM types,the main antibodies to myositis,the pathological characteristics of muscles,the manifestations of various types and the treatment of myositis.In addition to sIBM,patients with most of the other types of IIM have good outcomes by early diagnosis,timely,correct and adequate drug treatment.

Polimiosite no diagnóstico diferencial de dor torácica aguda / Polymyositis in the differential diagnosis of acute chest pain: case report

As miosites inflamatórias idiopáticas são um grupo heterogêneo de doenças de repercussão sistêmicas. A polimiosite é a manifestação fenotípica mais comum entre as miosites inflamatórias idiopáticas. A apresentação típica é dor e fraqueza progressiva simétrica da musculatura proximal e flexora do pescoço, com evolução de semanas a meses, associada à elevação dos marcadores de lesão muscular. O presente relato demonstra um quadro de polimiosite que se manifestou como dor torácica, acompanhado de aumento de creatinofosfoquinase e creatinofosfoquinase fração MB (CKT-MB), fazendo diagnóstico diferencial com síndrome coronariana aguda. O caso motivou a realização do levantamento bibliográfico, na busca de casos semelhantes e detalhamento dos critérios diagnósticos. Fizemos uma revisão comparando os aspectos clínicos importantes para diagnóstico diferencial das miopatias inflamatórias com os da síndrome coronariana aguda, além de discutir critérios diagnósticos da miopatias inflamatórias e seu tratamento.(AU)

Idiopathic inflammatory myositis is a heterogeneous group of diseases with systemic repercussions. Polymyositis is the most common phenotypic manifestation among idiopathic inflammatory myositis. The typical presentation is pain and progressive symmetrical weakness of the proximal and flexor musculature of the neck, with progression from weeks to months, associated with elevation of the markers of muscle injury. The present report demonstrates a picture of polymyositis that manifested as chest pain, with increased creatine kinase and creatine phosphokinase MB, making a differential diagnosis with acute coronary syndrome, which motivated the bibliographic survey in search for similar cases, and detailing of the diagnostic criteria. Thus, we performed a review comparing the clinical aspects that are important for a differential diagnosis of inflammatory myopathies with those of the acute coronary syndrome, and discussed the diagnostic criteria for inflammatory myopathies and their treatment.(AU)

Doença do corpúsculo de inclusão e espondilite por Salmonella sp. em uma Boa constrictor constrictor / Inclusion body disease and spondilitis by Salmonella sp. in a Boa constrictor constrictor

Doença do corpúsculo de inclusão (IBD) é uma enfermidade caracterizada por corpúsculos intracitoplasmáticos em diversos tecidos, principalmente no sistema nervoso central, responsável pelos principais sinais clínicos atribuídos à doença que acomete Boas e Phytons de cativeiro; essa enfermidade tem sido uma preocupação mundial devido à alta morbidade e mortalidade. O diagnóstico é feito pela visualização dos corpúsculos causados por um Arenavírus modificado. Salmonella sp. pertence à microflora de animais de sangue frio e quente, e é um patógeno oportunista que pode causar quadros gastrointestinais ou septicêmicos. Em répteis a Salmonella sp. é a bactéria com maior frequência de citações em espondilites e osteomielites. Relata-se um caso de uma jiboia (Boa constrictor constrictor) que apresentava restrição de movimento e múltiplos granulomas dorsais nas vértebras; à radiografia evidenciaram-se regiões fraturadas. Após meses de tratamentos sem melhora clínica e o aparecimento de novas lesões o animal ficou prostrado, anoréxico, caquético e desenvolveu opistótono; optou-se pela eutanásia. À necropsia verificaram-se, nas vértebras, múltiplos focos dorsais com aumento de volume que variava de 1,7cm à 3,8cm. Ao corte as vértebras eram deformadas e exibiam conteúdo caseoso focal próximo ao canal medular, este foi coletado para microbiologia onde se identificou Salmonella sp. À microscopia as vértebras tinham um infiltrado inflamatório multifocal moderado de macrófagos e heterofilos. Algumas áreas possuíam grande quantidade de granulomas com calcificação central e inúmeras células gigantes; outros mostravam áreas de osteomalácia e fibrose. Em raros focos havia fratura do corpo vertebral e compressão da medula espinhal com leve infiltrado inflamatório invadindo o canal medular. No pulmão, principalmente no epitélio brônquico, por vezes até dentro de linfócitos do tecido linfoide bronco-associado, no intestino, fígado, vesícula biliar, nos rins e no encéfalo foram encontradas diversas estruturas eosinofílicas intracitoplasmáticas arredondadas que variavam de 1 a 10 µm. Essas estruturas acompanhavam ou não inflamações mononucleares. Os achados são compatíveis com IBD e espondilite por salmonelose. A IBD é uma enfermidade frequente em serpentes de cativeiro, de importância mundial, que provavelmente é subdiagnosticada no Brasil. Essa doença causa imunossupressão que favorece ao desenvolvimento de outras enfermidades, e é tipicamente associada a outras doenças como a espondilite encontrada no caso.(AU)

Inclusion Body Disease (IBD) is a disorder characterized by intracytoplasmic corpuscles in different tissues, mainly in the CNS, wich is responsible for the major neurological signs attributable to this disease. It affects Boas and Phytons in captivity and have been a global concern due to the high morbidity and mortality. The diagnosis is made by visualization of corpuscles caused by a modified Arenaviruses. Salmonella sp. belongs to microflora of cold and warm-blooded animals; it is an opportunistic pathogen that can causes gastrointestinal or septic disorders. In reptiles, Salmonella sp. is the bacteria most frequently quotes in spondylitis and osteomyelitis. This article describes a boa constrictor (Boa constrictor constrictor) that had restriction of movement and multiple granulomas in the dorsal vertebrae, the shadowgraph showed up fractured regions. After months of treatment without clinical improvement and the emergence of new injuries, the animal started to get prostrate, anorexic, cachectic and developed opisthotonos. It was opted for euthanasia. At necropsy it was found in multiple spots swelling of the dorsal vertebrae that ranging from mild to moderate. At the cutting vertebrae it was visible deformed and showed focal caseous content near the spinal cord, this was collected for microbiology where it was identified Salmonella sp. At microscopic evaluation the vertebrae had one to multifocal moderate inflammatory infiltrate of macrophages and heterophils. Some areas had lots of granulomas with central calcification and numerous giant cells. Other vertebras showed areas of osteomalácea and fibrosis. Rare focus had vertebral body fracture and spinal cord compression with mild infiltration entering the spinal cord canal. In the lung, especially in the bronchial epithelium, sometimes even within lymphocytes in bronchial-associated lymphoid tissue, in the intestine, liver, gall bladder, kidney and brain were found various structures of eosinophilic intracytoplasmic rounded ranging between 1 and 10 micrometers. These structures accompanied or not mononuclear inflammation. These findings are consistent with IBD and spondylitis due to salmonellosis. The IBD is a common disease in captive snakes, of world importance, is probably underdiagnosed in Brazil. This disease causes immunosuppression favoring the development of other affections, and is typically associated with other diseases such as spondylitis found in the case.(AU)

Expression, purification and biological effect of a novel single chain Fv antibody and protamine fusion protein for the targeted delivery of siRNAs to FGFR3 positive cancer cells

Background: Gain-of-function of fibroblast growth factor receptor 3 (FGFR3) is involved in the pathogenesis of many tumors. More and more studies have focused on the potential usage of therapeutic single-chain Fv (ScFv) antibodies against FGFR3. RNA interference (RNAi) has been considered as a promising therapeutic method against cancer. A tool which can deliver small interference RNAs (siRNAs) into FGFR3 positive cancer cells is very promising for anti-tumor therapy. Results: In this study, a novel fusion protein R3P, which consists of FGFR3-ScFv and protamine, was generated in Escherichia coli by inclusion body expression strategy and Ni-NTA chromatography. Its yield reached 10 mg per liter of bacterial culture and its purity was shown to be higher than 95%. 1 µg of R3P could efficiently bind to about 2.5 pmol siRNAs and deliver siRNAs into FGFR3 positive RT112 and K562 cells. Annexin V staining results showed that R3P can deliver the amplified breast cancer 1 (AIB1) siRNAs to induce RT112 cell apoptosis. Conclusion: These results indicated that R3P was a promising carrier tool to deliver siRNAs into FGFR3 positive cancer cells and to exert anti-tumor effect.

Role of noninvasive ventilation in perioperative patients with neuromuscular disease: a clinical case / Papel da ventilação não invasiva no período perioperatório de doentes com patologia neuromuscular: caso clínico

The inclusion body myositis is an inflammatory myopathy that leads to chronic muscle inflammation associated with muscle weakness. It is characterized by a restrictive ventilatory syndrome requiring ventilatory support under non-invasive ventilation. The authors describe a clinical case and the anaesthetic management of a patient with inclusion body myopathy candidate for vertebroplasty, which highlights the importance of locoregional anaesthesia and of noninvasive ventilation and includes assisted cough techniques, maintained throughout the perioperative period.

A miosite por corpos de inclusão é uma miopatia inflamatória que cursa com inflamação crônica muscular associada à fraqueza muscular. Caracteriza-se por uma síndrome ventilatória restritiva com necessidade de suporte ventilatório sob ventilação não invasiva. Os autores descrevem caso clínico e respectivo manuseio anestésico de paciente com miopatia por corpos de inclusão proposta para vertebroplastia que realça a importância da anestesia locorregional e da ventilação não invasiva e inclui as técnicas de tosse assistida, mantidas durante todo o período perioperatório.

Expression,purification and renaturation of recombinant human collagen-binding bone morphogenetic protein-2 from Escherichia coli / 吉林大学学报(医学版)

Objective:To construct the Escherichia coli (E. coli)expression system for preparation of the bone morphogenetic protein-2 (BMP2)with collagen-binding domain (CBD),and to study the methods and conditions for expression, purification and renaturation of CBD-BMP2.Methods:CBD sequence was cloned into the N-terminal of BMP2 sequence, the recombinant vector pet21b/CBD-BMP2 was constructed and transformed into E.coli BL21.The expression of recombinant protein was induced using isopropylβ-D-thiogalactopyranoside (IPTG) at 37 ℃.Ni-NTA chelate chromatography was used to purify CBD-BMP-2.Denaturing CBD-BMP2 was refolded by dilution method using ultrapure water.The refolding CBD-BMP2 was filtered through a 0.22μm microfiltration membrane for degermation.The recovery rate was calculated by the ratio of the protein concentration before and after degermation. The expression, purification, and renaturation of recombinant protein were detected by SDS-PAGE method.The concentration of CBD-BMP2 was detected by BCA assay.Results:The recombinant vector pet21b/CBD-BMP2 was successfully transformed into E.coli BL21,and the recombinant protein was expressed as inclusion bodies in E.coli.The SDS-PAGE results showed denaturing protein was dissolved in supernatant of lysis buffer with 8 mol·L-1 urea and the purified recombinant protein existed in elution buffer B with relative molecular mass about 14 000.Two bands (14 000 and 28 000)were seen in the SDS-PAGE picture,which indicated that the monomer was successfully refolded into dimer by dilution method.The concentrations of recombinant protein before and after degermation were 110 and 80 mg · L-1 , respectively, and the recovery rate was about 73%. Conclusion:The recombinant vector pet21b/CBD-BMP2 is transformed into E.coli BL21 successfully,and the recombinant CBD-BMP2 is expressed and refolded efficiently. The methods of prokaryotic expression system for preparing recombinant CBD-BMP2 protein are established.

Estudo clínico, histológico, imunoistoquímico e da função lisossomal na miosite por corpos de inclusão / Clinical, histological, immunohistochemical and lysosomal function study in inclusion body myositis

A miosite por corpos de inclusão (inclusion body myositis - IBM), na sua forma esporádica, é considerada a miopatia adquirida mais comum após os 50 anos de idade. Embora seja incluída no grupo das miopatias inflamatórias, estudos recentes mostram um processo particular de degeneração muscular caracterizado por deposição anormal de agregados de proteínas nas fibras musculares e funcionamento anormal dos principais sistemas de degradação proteica. O objetivo deste estudo foi o de avaliar os aspectos clínicos, histológicos e imunoistoquímicos de pacientes com IBM. Avaliamos 18 casos com diagnóstico de IBM de dois dos principais centros de doenças neuromusculares do Brasil (25 biópsias musculares). Na tentativa de diferenciar os casos de IBM das outras miopatias inflamatórias, determinamos o padrão de expressão tecidual da p-tau (p62), alfa-sinucleína e TDP-43. Também foi avaliada a função lisossomal através da reação da fosfatase ácida (marcação da atividade lisossomal global) e determinação da marcação para LC3B (marcador de autofagia). Foi observado que a IBM predominou no sexo masculino (61% dos casos), da cor branca, com início das manifestações clínicas ao redor dos 59 anos de idade e os sintomas mais frequentes foram fraqueza muscular, instabilidade postural com quedas da própria altura, disfagia e perda ponderal, podendo ainda apresentar dispneia. O diagnóstico demorou em média 7,4 anos após o início dos sintomas e frequentemente esteve associada às seguintes comorbidades: hipertensão arterial sistêmica, diabetes mellitus tipo 2, osteopenia / osteoporose, dislipidemia e hiperuricemia / gota. O padrão de comprometimento muscular na IBM foi caracterizado por tetraparesia de predomínio proximal em membros inferiores e distal em membros superiores. Os valores séricos da creatinofosfoquinase em pelo menos uma das medições foram elevados em todos os pacientes, porém sem ultrapassar 10 vezes o limite superior da normalidade. O uso de...

Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy affecting adults aged over 50 years. Although included in the group of inflammatory myopathies, recent studies show a particular process of muscle degeneration characterized by abnormal deposit of protein aggregates in muscle fibers and abnormal operation of the main protein degradation systems. The aim of this study was to evaluate the clinical, histological and immunohistochemical patients with IBM. We evaluated 18 cases with IBM diagnostic of two of the main centers of neuromuscular diseases in Brazil (25 muscle biopsies). In an attempt to differentiate the IBM cases of other inflammatory myopathies, we determined the pattern of tissue expression of p-tau (p62), alfa-synuclein and TDP-43. Also evaluated the lysosomal function by acid phosphatase reaction (marking global lysosomal activity) and determining the markup for LC3B (autophagy marker). It was observed that IBM was predominant in males (61% of cases), white colored, with onset of clinical manifestations around 59 years old and the most common symptoms are muscle weakness, postural instability with high falls, dysphagia and weight loss, and may also present dyspnea. The diagnosis took an average of 7.4 years after the onset of symptoms and was often associated with the following comorbidities: hypertension, type 2 diabetes mellitus, osteopenia / osteoporosis, dyslipidemia and hyperuricemia / gout. The muscular damage pattern at IBM was characterized by tetraparesis predominantly proximal lower limbs and distal upper limbs. Serum creatine kinase levels in at least one of the measurements were elevated in all patients, but not exceeding 10 times normal. Immunosuppression was not effective in patients with IBM. The IBM histological findings included diversify dystrophic changes, endomysial inflammation, as well as the occurrence of rimmed vacuoles, in addition to high frequency of mitochondrial changes. Other...

Pox viral infection in a rufous turtle dove

A dead dove was found on the road and submitted for diagnosis. The bird was severely emaciated, with deformation in its facial area. Grossly, white coalescing nodules were seen on the cut surface of the nasal cavity. Histopathologically, epithelial cells of the upper respiratory tract were markedly proliferated, with ballooning degeneration, down growth of the rete ridge, and large eosinophilic intracytoplasmic inclusion bodies. Parakeratotic hyperkeratosis and focal necrotic focus was present in the proliferative area. The facial bones showed partial bone resorption. Transmission electron microscopy revealed numerous viral particles in epithelial cells with dumbbell-shaped bodies, consistent with poxvirus.

Hypokalemia-Induced Rhabdomyolysis by Primary Aldosteronism Coexistent With Sporadic Inclusion Body Myositis

We describes a patient with hypokalemia-induced rhabdomyolysis due to primary aldosteronism (PA), who suffered from slowly progressive muscle weakness after laparoscopic adrenalectomy, and was later diagnosed with coexisting sporadic inclusion body myositis (sIBM). A 54-year-old Asian male presented with severe muscle weakness of both lower extremities. Laboratory findings showed profound hypokalemia, and extreme elevation of the serum creatine phosphokinase levels, suggestive of hypokalemia-induced rhabdomyolysis. Further evaluation strongly suggested PA by an aldosterone-producing adenoma, which was successfully removed surgically. However, muscle weakness slowly progressed one year after the operation and a muscle biopsy demonstrated findings consistent with sIBM. This case is the first report of hypokalemia-induced rhabdomyolysis by PA coexistent with sIBM, to the best of our knowledge.

Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

Prokaryotic expression of streptolysin O antigen and its condition optimization / 国际检验医学杂志

Objective To construct the recombinant streptolysin O antigen(SLO) prokaryotic expression plasmid and establish its best expression condition in Escherichia coli .Methods The DNA fragment encoding SLO was amplified from streptococcal ge-nomic DNA template by PCR ,and then incorporated into pET-32a(+ ) vector to construct pET-32a(+ )-SLO recombinant plas-mid .pET-32a(+ )-SLO was transformed into Escherichia coli BL21(DE3) and SLO protein was expressed and purified by isopro-pyl-β-D-thiogalactoside(IPTG)-induction and auto-induction ,respectively .Results The results of DNA electrophoresis and DNA sequencing showed that pET-32a(+ )-SLO recombinant plasmid was constructed successfully .When IPTG at different concentra-tion was used ,SLO expressed as inclusion body and its expression efficiency was low .Under auto-induction condition ,SLO ex-pressed as partly soluble manner ,and its expression efficiency increased .Conclusion The prokaryotic expression plasmid pET-32a (+ )-SLO is constructed successfully and the best condition for SLO expression and purification from Escherichia coli culture is es-tablished ,which lay the foundation for further basic and clinical application research with SLO .

Inclusion Body Fibromatosis of Finger in a 5-year Old Girl: A Case Report / 대한골관절종양학회지

Inclusion body fibromatosis is a rare benign soft tissue neoplasm typically involving fingers and toes of children in mostly less than one year old. Histologic findings include spindle-shaped fibroblasts surrounded by dense stroma and small perinuclear eosinophilic inclusions in the cytoplasm. Although the tumor typically undergoes spontaneous regression, surgery is considered when functional impairment or deformity develops with the lesion. Unfortunately, recurrence rate was reported to be as high as 60% following tumor excision. Authors would like to present our case where the tumor occurred in relatively older child and kissing lesion was found a few months after the surgery.