Activity and participation experiences of people with disabilities in Ethiopia

Ethiopia, as a State Party to the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD), has committed to upholding the rights of people with disabilities in Ethiopia. There is little evidence, however, reflecting the impact of this commitment on the lived experiences of people with disabilities in Ethiopia. Objectives: This study sought to uncover how the experiences of participation and activity shape the enactment of rights for Ethiopians with disabilities as enshrined in the UNCRPD. Method: Analysis of 25 qualitative interviews with people with disabilities and family members living in Ethiopia used a reflexive thematic analysis approach to arrive at central themes. Results: People with disabilities in Ethiopia experience marginalization, distress and practical challenges in both routine daily activities and participation in broader social roles and opportunities. These experiences affect their ability to claim many of the rights afforded by the UNCRPD. Conclusion: Despite legislative efforts to bring about change in Ethiopia, people with disabilities continue to live on the social margins. A meaningful change will require substantial allocation of needed resources by the Ethiopian government to support national-level programs and policy change. It is critical that people with disabilities and their families are engaged in receiving relevant support and serve as change leaders. Contribution: This study illustrates how marginalization, distress and practical challenges in daily activities and social participation arise and are sustained for people with disabilities in Ethiopia. The findings can help to inform the country's efforts to enact the rights of Ethiopians with disabilities as enshrined in the United Nations Convention on the Rights of Persons with Disabilities

Activity and participation experiences of people with disabilities in Ethiopia

Ethiopia, as a State Party to the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD), has committed to upholding the rights of people with disabilities in Ethiopia. There is little evidence, however, reflecting the impact of this commitment on the lived experiences of people with disabilities in Ethiopia. Objectives: This study sought to uncover how the experiences of participation and activity shape the enactment of rights for Ethiopians with disabilities as enshrined in the UNCRPD. Method: Analysis of 25 qualitative interviews with people with disabilities and family members living in Ethiopia used a reflexive thematic analysis approach to arrive at central themes. Results: People with disabilities in Ethiopia experience marginalisation, distress and practical challenges in both routine daily activities and participation in broader social roles and opportunities. These experiences affect their ability to claim many of the rights afforded by the UNCRPD. Conclusion: Despite legislative efforts to bring about change in Ethiopia, people with disabilities continue to live on the social margins. A meaningful change will require substantial allocation of needed resources by the Ethiopian government to support national-level programmes and policy change. It is critical that people with disabilities and their families are engaged in receiving relevant support and serve as change leaders. Contribution: This study illustrates how marginalisation, distress and practical challenges in daily activities and social participation arise and are sustained for people with disabilities in Ethiopia. The findings can help to inform the country's efforts to enact the rights of Ethiopians with disabilities as enshrined in the United Nations Convention on the Rights of Persons with Disabilities

Inclusões semelhantes aos corpúsculos de Russell em blastos mieloides / Inclusions similar to Russell bodies in myeloblasts

Alterações nos mecanismos celulares resultam no aparecimento de corpúsculos de Russel, que são inclusões intracitoplasmáticas basofílicas. Estas inclusões ocorrem devido a uma indigestão celular de proteínas e podem ser observadas em diversas condições patológicas como leucemias, mieloma múltiplo, linfoma de Burkitt e gastrite com corpúsculos de Russell, sendo raramente observadas em leucemias mieloides agudas. O presente estudo relata a presença de inclusões semelhantes aos corpúsculos de Russell em blastos no sangue periférico de uma paciente de 51 anos com leucemia mieloide aguda.

Changes in cell mechanisms result in the appearance of Russel bodies, which are basophilic intracytoplasmic inclusions. These inclusions occur due to cellular indigestion of proteins, and can be observed in several pathological conditions such as leukemias, multiple myeloma, Burkitt's lymphoma, and gastritis with Russell bodies, but rarely observed in acute myeloid leukemias. The present study reports the presence of inclusions similar to Russell bodies in peripheral blood blasts in a 51-year-old female patient with acute myeloid leukemia.

Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients

MYH9-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological features, such as sensorineural deafness and renal impairment. MYH9RD can be misdiagnosed as an acquired form of thrombocytopenia including immune thrombocytopenic purpura (ITP). This leads to delayed diagnosis or administration of ineffective treatment. In the present study, we investigated the clinical and molecular characteristics of five unrelated Korean patients with MYH9RD and their family members, from four institutions. We reviewed clinical and laboratory data including extra-hematological manifestations. MYH9 pathogenic variants were detected by direct sequencing in all probands and the affected family members (N=10): two probands with c.5521G>A (p.Glu1841Lys) and one proband each with c.99G>T (p.Trp33Cys), c.287C>T (p.Ser96Leu), and c.3493C>T (p.Arg1165Cys). All patients had macrothrombocytopenia. Only the proband with Ser96Leu had extra-hematological manifestations. Past history revealed that two patients had been misdiagnosed with ITP and one of them had received a splenectomy. We validated the frequency of misdiagnosis (~20%) and genotype-phenotype correlations through a comprehensive review of previously reported cases of MYH9RD in Korea. It is important to suspect MYH9RD in patients with thrombocytopenia, and timely identification of macrothrombocytopenia and MYH9 pathogenic variants is required for early and accurate diagnosis of MYH9RD.

Phosphorylated TDP-43 Staging of Primary Age-Related Tauopathy / 神经科学通报·英文版

Primary age-related tauopathy (PART) is characterized by tau neurofibrillary tangles (NFTs) in the absence of amyloid plaque pathology. In the present study, we analyzed the distribution patterns of phosphorylated 43-kDa TAR DNA-binding protein (pTDP-43) in the brains of patients with PART. Immunohistochemistry and immunofluorescence double-labeling in multiple brain regions was performed on brain tissues from PART, Alzheimer's disease (AD), and aging control cases. We examined the regional distribution patterns of pTDP-43 intraneuronal inclusions in PART with Braak NFT stages > 0 and ≤ IV, and a Thal phase of 0 (no beta-amyloid present). We found four stages which indicated potentially sequential dissemination of pTDP-43 in PART. Stage I was characterized by the presence of pTDP-43 lesions in the amygdala, stage II by such lesions in the hippocampus, stage III by spread of pTDP-43 to the neocortex, and stage IV by pTDP-43 lesions in the putamen, pallidum, and insular cortex. In general, the distribution pattern of pTDP-43 pathology in PART cases was similar to the early TDP-43 stages reported in AD, but tended to be more restricted to the limbic system. However, there were some differences in the distribution patterns of pTDP-43 between PART and AD, especially in the dentate gyrus of the hippocampus. Positive correlations were found in PART between the Braak NFT stage and the pTDP-43 stage and density.

Cytoplasmic azurophilic inclusion bodies in reactive plasmacytosis

No abstract available.

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.

Lewy and his inclusion bodies: Discovery and rejection / Lewy e seus corpos de inclusão: descoberta e rejeição

ABSTRACT Fritz Jacob Heinrich Lewy described the pathology of Paralysis agitans [Parkinson disease] and was the first to identify eosinophilic inclusion bodies in neurons of certain brain nuclei, later known as Lewy bodies, the pathological signature of the Lewy body diseases. In 1912, he published his seminal study, followed soon after by an update paper, and 10 years later, in 1923, by his voluminous book, where he exhaustively described the subject. The publication provided extensive information on the pathology of Paralysis agitans, and the entirely novel finding of eosinophilic inclusion bodies, which would become widely recognized and debated in the future. His discovery was acknowledged by important researchers who even named the structure after him. However, after his last publication on the issue, inexplicably, he never mentioned his histopathological discovery again. Despite several hypotheses, the reasons that led him to neglect (reject) the structure which he so preeminently described have remained elusive.

RESUMO Fritz Jacob Heinrich Lewy descreveu a patologia da Paralysis agitans [doença de Parkinson] e identificou pela primeira vez corpos de inclusão eosinófílos em neurônios de certos núcleos cerebrais, conhecidos mais tarde como corpos de Lewy, assinatura patológica das doenças dos corpos de Lewy. Ele divulgou em 1912 seu trabalho seminal, seguido logo por um artigo de atualização e 10 anos depois, em 1923, seu volumoso livro onde detalhou exaustivamente o assunto. Ali ele trouxe extensa informação sobre a patologia da Paralysis agitans e um achado inteiramente novo, os corpos de inclusão eosinófilos, que seriam valorizados e largamente debatidos no futuro. Seu achado foi reconhecido por importantes pesquisadores que até designaram essa estrutura com seu nome. Entretanto, após sua última publicação sobre o assunto, inexplicavelmente , ele nunca mais mencionou sua descoberta histopatológica. Apesar de diversas hipóteses, a razão que o levou negligenciar (rejeitar) a estrutura, que teve a primazia de descrever, permaneceu desconhecida.

Pigmented Kamino bodies: a little-known histological finding. Prevalence in 19 cases of Reed nevus

Abstract The present study aimed to determine the prevalence of Kamino bodies in Reed nevus, since most studies to date show conflicting data on this issue. This was a retrospective observational study, in which the histopathology of 19 Reed nevus lesions were reviewed. The slides were stained by hematoxylin and eosin and periodic acid-Schiff, with a special focus placed on the identification of Kamino bodies. Some clinical data were also collected. The median patient age was 12 years (range of 2 to 58). The women to men ratio was 5:4. Lesions were located on different parts of the body. Kamino bodies were found in eleven lesions (57.89%). five showed pigmented Kamino bodies (26.31%), four non-pigmented Kamino bodies (21,05%), and 2 (10.52%) had both. Kamino bodies, pigmented or not, are a common histological finding in Reed nevus and may well represent a good marker to differentiate these from malignant melanomas.

Cell-to-cell Transmission of Polyglutamine Aggregates in C. elegans

Huntington disease (HD) is an inherited neurodegenerative disorder characterized by motor and cognitive dysfunction caused by expansion of polyglutamine (polyQ) repeat in exon 1 of huntingtin (HTT). In patients, the number of glutamine residues in polyQ tracts are over 35, and it is correlated with age of onset, severity, and disease progression. Expansion of polyQ increases the propensity for HTT protein aggregation, process known to be implicated in neurodegeneration. These pathological aggregates can be transmitted from neuron to another neuron, and this process may explain the pathological spreading of polyQ aggregates. Here, we developed an in vivo model for studying transmission of polyQ aggregates in a highly quantitative manner in real time. HTT exon 1 with expanded polyQ was fused with either N-terminal or C-terminal fragments of Venus fluorescence protein and expressed in pharyngeal muscles and associated neurons, respectively, of C. elegans. Transmission of polyQ proteins was detected using bimolecular fluorescence complementation (BiFC). Mutant polyQ (Q97) was transmitted much more efficiently than wild type polyQ (Q25) and forms numerous inclusion bodies as well. The transmission of Q97 was gradually increased with aging of animal. The animals with polyQ transmission exhibited degenerative phenotypes, such as nerve degeneration, impaired pharyngeal pumping behavior, and reduced life span. The C. elegans model presented here would be a useful in vivo model system for the study of polyQ aggregate propagation and might be applied to the screening of genetic and chemical modifiers of the propagation.

Development of Refolding Process to Obtain Active Recombinant Human Bone Morphogenetic Protein-2 and its Osteogenic Efficacy on Oral Stem Cells

BMP-2 is a well-known TGF-beta related growth factor, having a significant role in bone and cartilage formation. It has been employed to promote bone formation in some clinical trials, and to differentiate mesenchymal stem cells into osteoblasts. However, it is difficult to obtain this protein in its soluble and active form. hBMP-2 is expressed as an inclusion body in the bacterial system. To continuously supply hBMP-2 for research, we optimized the refolding of recombinant hBMP-2 expressed in E. coli, and established an efficient method by using detergent and alkali. Using a heparin column, the recombinant hBMP-2 was purified with the correct refolding. Although combinatorial refolding remarkably enhanced the solubility of the inclusion body, a higher yield of active dimer form of hBMP-2 was obtained from one-step refolding with detergent. The refolded recombinant hBMP-2 induced alkaline phosphatase activity in mouse myoblasts, at ED₅₀ of 300-480ng/ml. Furthermore, the expressions of osteogenic markers were upregulated in hPDLSCs and hDPSCs. Therefore, using the process described in this study, the refolded hBMP-2 might be cost-effectively useful for various differentiation experiments in a laboratory.

A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up / 임상소아혈액종양

May-Hegglin anomaly (MHA) is a myosin-heavy-chain-9 (MYH9)-related disorder characterized by thrombocytopenia with giant platelets and inclusion bodies in leukocytes. MHA does not require treatment, but it may be misdiagnosed as immune thrombocytopenic purpura (ITP) and inappropriately managed. Reported herein is a case of a 12 year old female patient diagnosed as MHA with laboratory findings of severe thrombocytopenia and giant platelets in peripheral blood morphology, and followed up until 23 years of age. The patient had been diagnosed with ITP and treated with intravenous gamma-globulin therapy at another hospital, and showed no improvements in platelet count. She was then referred to our hospital for further diagnostic workup and followed up for 11 years, showing platelet count of 6,000-20,000/µL and prolonged platelet function test. She was occasionally treated with iron therapy due to iron-deficiency anemia. In 2014, we conducted a DNA analysis that revealed c.4339G>T(p.Asp1447Tyr), a known mutation of MYH9 gene.

Three days of intermittent stretching after muscle disuse alters the proteins involved in force transmission in muscle fibers in weanling rats

The aim of this study was to determine the effects of intermittent passive manual stretching on various proteins involved in force transmission in skeletal muscle. Female Wistar weanling rats were randomly assigned to 5 groups: 2 control groups containing 21- and 30-day-old rats that received neither immobilization nor stretching, and 3 test groups that received 1) passive stretching over 3 days, 2) immobilization for 7 days and then passive stretching over 3 days, or 3) immobilization for 7 days. Maximal plantar flexion in the right hind limb was imposed, and the stretching protocol of 10 repetitions of 30 s stretches was applied. The soleus muscles were harvested and processed for HE and picrosirius staining; immunohistochemical analysis of collagen types I, III, IV, desmin, and vimentin; and immunofluorescence labeling of dystrophin and CD68. The numbers of desmin- and vimentin-positive cells were significantly decreased compared with those in the control following immobilization, regardless of whether stretching was applied (P<0.05). In addition, the semi-quantitative analysis showed that collagen type I was increased and type IV was decreased in the immobilized animals, regardless of whether the stretching protocol was applied. In conclusion, the largest changes in response to stretching were observed in muscles that had been previously immobilized, and the stretching protocol applied here did not mitigate the immobilization-induced muscle changes. Muscle disuse adversely affected several proteins involved in the transmission of forces between the intracellular and extracellular compartments. Thus, the 3-day rehabilitation period tested here did not provide sufficient time for the muscles to recover from the disuse maladaptations in animals undergoing postnatal development.

A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A, resulting in the accumulation of glycosphingolipids within the lysosomes of various cell types. It has a wide spectrum of clinical phenotypes, and renal failure is a serious complication. Fabry disease is confirmed either by measurement of α-galactosidase A activity or by genetic testing for GLA mutations. Renal biopsy findings on light microscopy, specifically enlarged podocytes with foamy cytoplasm, and osmiophilic inclusion bodies in the cytoplasm in all types of renal cells on electron microscopy, are characteristic of this disease. The predominant differential diagnosis is iatrogenic phospholipidosis in association with certain drugs that can cause cellular injuries indistinguishable from Fabry disease. Here, we report the case of a 10-year-old boy with microscopic hematuria who underwent a renal biopsy that showed morphological findings consistent with Fabry disease, although the patient had neither a GLA mutation nor a history of drug consumption. Six years later, spontaneous regression of this renal pathology was observed in a second renal biopsy examination.

Optimization of expression conditions and activity identification of hepatocyte-targeting peptide-human endostatin / 生物工程学报

To obtain sufficient purified and active fusion protein-hepatocyte-targeting peptide-human endostatin (HTP-rES), we studied the growth curve and the optimal induction timing of BL21/pET21b-HTP-rES. Different conditions of pH value, induction time, induction concentration and induction temperature were optimized by univariate analysis. After washing, refolding and purifying, the activity of fusion protein was identified by flow cytometry and 3-(4,5)-dimethylthiahiazo (-z-y1)-3,5-di-phenytetrazoliumromide (MTT). Results show that the logarithmic growth phase of BL21/pET21b-HTP-rES was from 1.5 h to 3.5 h, the optimum expression conditions were pH 8.0, 0.06 mmol/L IPTG, at 42 ℃ for 5 h. The purity of inclusion bodies was up to 60% after washing. The purity of target protein was more than 95% after refolding and purification. Our findings provide the foundation for further biological activity and drug development.

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.

A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up / 임상소아혈액종양

May-Hegglin anomaly (MHA) is a myosin-heavy-chain-9 (MYH9)-related disorder characterized by thrombocytopenia with giant platelets and inclusion bodies in leukocytes. MHA does not require treatment, but it may be misdiagnosed as immune thrombocytopenic purpura (ITP) and inappropriately managed. Reported herein is a case of a 12 year old female patient diagnosed as MHA with laboratory findings of severe thrombocytopenia and giant platelets in peripheral blood morphology, and followed up until 23 years of age. The patient had been diagnosed with ITP and treated with intravenous gamma-globulin therapy at another hospital, and showed no improvements in platelet count. She was then referred to our hospital for further diagnostic workup and followed up for 11 years, showing platelet count of 6,000-20,000/µL and prolonged platelet function test. She was occasionally treated with iron therapy due to iron-deficiency anemia. In 2014, we conducted a DNA analysis that revealed c.4339G>T(p.Asp1447Tyr), a known mutation of MYH9 gene.

Histopathological and immunohistochemical study of spinal cord tissues in neurodegenerative diseases / 中华病理学杂志

<p><b>OBJECTIVE</b>To investigate histopathology and proteinopathy in the spinal cord of patients with common neurodegenerative diseases.</p><p><b>METHODS</b>Spinal cord tissues from clinically and neuropathologically confirmed neruodegnerative diseases were enrolled in this study, including 3 cases of multiple system strophy, 4 cases of amyotrophic lateral sclerosis, 5 cases of Alzheimer's disease (AD, included 2 cases of AD combined with Parkinson's disease), 2 cases of progressive supranuclear palsy, 1 case of dementia with lewy body and 1 case of corticobasal degeneration from 1955 to 2013 at Chinese People's Liberation Army General Hospital. Four normal control cases were also included. Routine HE and Gallyas-Braak staining, and immunohistochemical stainings for anti-PHF tau (AT8), anti-α-synuclein, anti-TDP-43 and anti-ubiquitin were performed.</p><p><b>RESULTS</b>Examination of the spinal cord in 3 cases with multiple system strophy revealed severe neuron loss in the intermediolateral nucleus of thoracic segment and Onuf's nucleus of the sacral segment, along with moderate neuron loss in the anterior horn of the cervical segment and mild myelin pallor in the anterior funiculus and anterolateral funiculus in the cervical and thoracic segments. Large amount of argentophilic, ubiquitin and synuclein positive oligodendroglial cytoplasmic inclusions were found widely distributed in the anterior horn and the anterior funiculus and anterolateral funiculus of the full spinal cord. Severe neuron loss and several morphological changes with gliosis in the anterior horn and severe loss of myelin in the anterior funiculus and anterolateral funiculus of the full spinal cord were observed in 4 cases of amyotrophic lateral sclerosis, 2 of which were found with Bunina bodies in neurons of the anterior horn. Three amyotrophic lateral sclerosis cases had ubiquitin-positive neuronal inclusions and TDP-43 positive neuronal and glial inclusions in the anterior horn at cervical and lumbar segments. A few argentophilic, tau positive neurofibrillary tangles (NFTs) and neuropil threads in the anterior horn at cervical and lumbar segments were found in 4 AD cases. Examination of spinal cord in 2 cases with Parkinson's disease combined with AD and 1 case with dementia with lewy body revealed severe neuron loss in the intermediolateral nucleus of thoracic segment, and a few synuclein positive lewy bodies and neuritis were also observed. There was mild neuron loss in the anterior horn at cervical and lumbar segments, along with some argentophilic, tau positive globous NFTs and many argentophilic, tau positive neutrophil threads were observed in 2 progressive supranuclear palsy cases and 1 corticobasal degeneration case.</p><p><b>CONCLUSION</b>Each common neurodegenerative diseases of the spinal cord including multiple system strophy, amyotrophic lateral sclerosis and Parkinson's disease has its own specific histopathology and proteinopathy characteristics.</p>

A Case of Cytomegalovirus-associated Giant Gastric Ulcer in a Patient Who Healed by Discontinuing Immunosuppressive Therapy

Cytomegalovirus (CMV) is not a rare infection and is frequently observed in immuoncompromised patients. CMV infection is usually asymptomatic in immunocompetent patients however it can be a major cause of morbidity and mortality in immunocompromised patients. The diagnosis of CMV gastric ulcer is not easy because of the absence of characteristic endoscopic features and the difficulty in the identification of infection by routine histologic examinations. We experienced a case of CMV-associated giant gastric ulcer in a patient receiving immunosuppressive therapy. She was a 45-year-old woman with dermatomyositis and had received steroid therapy to control her disease. Epigastric pain developed during therapy and upper endoscopy revealed a gastric ulcer. Despite proton pump inhibitor therapy, her epigastric pain aggravated and follow-up endoscopy revealed a huge gastric ulcer approximately 10 cm in diameter. Histologic findings showed intracellular inclusion bodies after immunostaining which confirmed CMV-associated gastric ulcer. Steroid therapy was discontinued and she received proton pump inhibitors without antiviral agents. Her symptoms improved and follow-up endoscopy revealed successful healing of the CMV-associated gastric ulcer. If an unusual gastric ulcer develops in the immunocompromised patients, CMV gastric ulcer should be suspected and examination for inclusion bodies using CMV immunostaining should be considered.