Overaction of the inferior oblique(IO) muscle is manifested by elevation of the adducted eye and from the clinical point of view there are two types of overaction. The primary type is of unknown cause, whereas the secondary type is usually related to the palsy of the ipsilateral superior oblique or contralateral superior rectus. An ultrastructural study on the overacting IO muscles was performed compared to normal IO muscles by electron microscopy. Of 16 biopsies of overacting IO muscles, four had primary overacting inferior obliques and twelve had secondary overacting inferior obliques due to paralysis of superior oblique muscle. Additional four IO muscle, obtained from patients with intraocular diseases served as control specimens. The most striking abnormalities were aggregations of mitochondria and degenerating mitochondrial profiles and increased vacuolization in primary and secondary overacting muscles. Many muscle fibers were in different stages of atrophy, and hypertrophy and regeneration of muscle fibers were sometimes visible. The results suggest that the primary overacting IO muscle might be the result of a paresis of the superior oblique muscle.
Biopsy ; Humans ; Mitochondria/ultrastructure ; Ocular Motility Disorders/*pathology ; Oculomotor Muscles/*ultrastructure ; Ophthalmoplegia/pathology ; Vacuoles/ultrastructure

Here we report a case of the classical inclusion body myositis. The muscle pathology in a 61-year-old male patient with slowly progressive proximal muscle weakness and atrophy revealed basophilic rimmed vacuoles on light microscope and intracytoplasmic filamentous inclusions with membranous whorls through electron microscope. He did not respond to steroid therapy.
Atrophy ; Basophils ; Humans ; Inclusion Bodies* ; Male ; Middle Aged ; Muscle Weakness ; Myositis, Inclusion Body* ; Pathology ; Vacuoles

BACKGROUND: Over the years many possible explanations for the development of varicose vein have been suggested. The main possible mechanisms are a valvular failure theory and a weak wall theory. However, the definite cause of varicose has not been determined yet. OBJECTIVE: The aims of this study are to observe the pathologic changes in the smooth muscle cells and extracellular matrix of the primary varicose vein. An understanding of the pathology may possibly help to understand the pathogenesis of varicose veins. METHODS: A total of 20 vein specimens of primary varicose vein were collected from 13 patients who underwent ambulatory phlebectomy. Among them, 16 specimens were thick segments and 4 specimens were thin segments of varicose veins. Control samples were collected from two patients with no history and clinical evidence of varicose vein. Each specimen was examined with a JEM 1200EX-II electron microscopy. Ultrastructural findings between thick and thin segments of varicose veins and normal veins were also compared semiquantitatively. RESULTS: The smooth muscle cells of varicose veins were abnormal in shape and lost their fusiform appearance with many vacuoles. Increased extracellular matrix shows the increase of degenerated collagen fibers and decrease of elastic fibers. Thin segments revealed more atrophic smooth muscle cells and phagocytosis than thickened segments. Thick segments showed increased collagen fiber. CONCLUSION: These ultrastructural changes may be not the primary cause of varicose veins but the secondary remodeling processes of vein walls by hemodynamic stress.
Collagen ; Elastic Tissue ; Extracellular Matrix ; Hemodynamics ; Humans ; Leg* ; Microscopy, Electron ; Myocytes, Smooth Muscle ; Pathology ; Phagocytosis ; Vacuoles ; Varicose Veins* ; Veins

OBJECTIVETo compare the clinical, pathological, laboratory test and follow-up data between familial and sporadic patients with distal myopathy with rimmed vacuoles (DMRV) and discuss the characteristics of this disorder in Chinese population.

METHODSThe clinical and pathological features, laboratory data and follow-up results of 33 sporadic and 4 familial cases of pathologically confirmed DMRV were summarized and compared retrospectively.

RESULTSThe patients age, onset age, or disease duration showed no significant difference between sporadic and familial cases; the onset pattern and affected muscle groups were also similar, but the sporadic cases showed more frequent dysmorphic features than the familial cases. The patients showed mild to moderate elevation of the muscle enzymes by one to three folds, and the familial patients had more significant elevation than the sporadic ones. No correlation was found between the disease duration and the level of muscle enzymes. The pathological findings were similar between the cases, and Gomori staining showed rimmed vacuoles and inclusion bodies without inflammatory cell infiltration. Follow-up results of 29 cases showed no significant difference between the two groups. The disease was slowly progressive and severely affected the quality of life of the patients, but did not produce obvious effect on the life expectancy.

CONCLUSIONThe clinical, pathological and laboratory data of Chinese DMRV patients are basically similar to those of Japanese cases. Sporadic cases tend to show more dysmorphic features than the familial ones, and occasional sporadic cases have early disease onset in early childhood.

Adult ; Asian Continental Ancestry Group ; Distal Myopathies ; classification ; genetics ; pathology ; Female ; Humans ; Inclusion Bodies ; pathology ; Male ; Pedigree ; Retrospective Studies ; Vacuoles ; pathology ; Young Adult

OBJECTIVETo investigate whether tri-ortho-cresyl phosphate (TOCP) and organophosphate compound that could produce organophosphate-induced delayed neuropathy (OPIDN) in hen and other sensitive species, directly affect oligodendrocytes, the myelin-forming cell of the central nervous system.

METHODSThis was achieved by a combination of measurements of cell viability (MTT) cell pathological observation in the presence and absence of the compound cultured hen brain oligodendrocytes were prepared and treated with various concentrations of TOCP.

RESULTSIn a time-course experiment TOCP showed a cytotoxic effect to oligodendrocytes and led to the oligodendrocyte processes disintegrated and membranous blebs, cytoplasmic vacuolation following exposure time of 24 h or longer, it showed a dose-depended and time-depended manner cytotoxic effect to oligodendrocytes at dose levels of 0.5 approximately 1.5 microg/ml (1.35 approximately 4.05 mol/L) concentrations of TOCP for 24 - 72 h exposure. MTT experiment indicated that TOCP inhibited cell viability by dose-depended manner at dose levels of 0.5 approximately 1.5 microg/ml (1.35 approximately 4.05 mol/L) concentrations of TOCP for an 24 h exposure.

CONCLUSIONSTOCP is cytotoxic to oligodendrocytes and leads to the oligodendrocyte processes disintegrated and membranous blebs, vacuolar degeneration, which suggests that this oligodendrocyte degeneration may involve in the pathogenesis mechanism for OPIDN.

Animals ; Cell Survival ; Cells, Cultured ; Cerebral Cortex ; pathology ; Chickens ; Dose-Response Relationship, Drug ; Oligodendroglia ; drug effects ; pathology ; Tritolyl Phosphates ; toxicity ; Vacuoles ; drug effects ; pathology

OBJECTIVELysosomal storage diseases are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. The manifestations of lysosomal storage diseases are complicated due to different enzyme deficiency. It has been reported that a range of metabolic diseases resulting in abnormal accumulation of metabolic byproducts may exhibit abnormal cytoplasmic vacuolation of lymphocytes. The aim of this study was to elicit the usefulness of vacuolated peripheral lymphocytes detection in screening and diagnosis of lysosomal storage diseases.

METHODClinical data of 42 patients who underwent microscopic and electron microscopic examination of peripheral blood specimens in our department were retrospectively evaluated between January 2008 and December 2009.

RESULTForty-two patients with the suspected lysosomal storage diseases were included, these patients presented with motor and developmental retardation and/or regression. Seizure occurred in 32 patients. Hepatosplenomegaly were found in 4 patients. Three patients presented with declined visual acuity. Atrophy and/or abnormal signals were detected on cranial CT/MRI images in 24 patients. Blood biochemical tests were normal. Serum levels of ammonia, lactic acid and pyruvate were normal. Serum amino acid profiles and urinary organic acid profiles were normal. Serum fatty acid profiles were normal. Vacuolated lymphocytes were detected on microscopic examination of blood film in 14 patients, and 8 of these patients were confirmed to have lysosomal storage disease. Curvilinear body was found on electronic microscopic examination of peripheral lymphocytes specimens in 4 patients, confirming the diagnosis of neuronal ceroid lipofuscinosis. In 3 of these 4 patients, curvilinear body were also found on electronic microscopic examination of skin and/or muscle specimens. Enzyme analysis confirmed the diagnosis of metachromatic leukodystrophy in one patient and Pompe's disease in another patient. Typical pathological changes were found on the examination of bone marrow in 2 patients with normal acid sphingomyelinase activity. So the patients were diagnosed with Niemann-Pick disease type C. The diagnosis of other 6 patients with vacuolated lymphocytes was unknown.

CONCLUSIONBecause of its usefulness and minimal invasiveness, vacuolated peripheral lymphocytes examination should be a screening test for lysosomal storage disease. As for patients with suspected neuronal ceroid lipofuscinosis, electron microscopic examination of peripheral lymphocyte specimens may provide specific clues to the final diagnosis.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Lymphocytes ; pathology ; Lysosomal Storage Diseases ; blood ; diagnosis ; pathology ; Male ; Microscopy, Electron ; Retrospective Studies ; Vacuoles

The authors have demonstrated the effect of sodium selenite on the hepatotoxicity due to carbon tetrachloride, by observing the distribution and disaggregation of the pyroninophilic granules in the hepatic cell of the mature male albino mice. Each experimental mouse of the selenite and the selenite plus carbon tetrachloride groups was given a single dose of 4 ug. of sodium selenite per kilogram of body weight and that of the control and the carbon tetrachloride groups was given 0.1 ml. of distilled water alone. Six hours after the first administration of distilled water or sodium selenite, the experimental mice of the carbon tetrachloride and the selenite plus carbon tetrachloride groups were given a single dose of l.0 ml. of carbon tetrachloride per kilogram of body weight and those of the selenite groups were given 0.l ml. of paraffin oil alone. Following the 1ast administration of carbon tetrachloride or paraffin oil, the mice were sacrificed by bleeding (cutting the common carotid artery) at the intervals of 2,3,4,6,8, and 12 hours respectively. Histochemical preparations were stained by the methyl-green and pyronin method and oil red 0 method. The hepatotoxicity due to the administration of carbon tetrachoride was evident in the hepatic cells; the pyroninophilic granlues were partly reduced in volume in the hepatic cells of the centrilobular and the intermediate zones as early as the 3 hour-period, and markedly reduced or disappeared in the centrilobular and some part of the intermediate zones associated with hydropic degeneration as well as in the 6 hour-period. Thereafter marked reduction or dissolution of the pyroninophilic granules was found and extended as the periportal zone at the 12 hour-period. However, the pyroninophilic granules in the hepatic cells of selenite plus carbon tetrachbride group showed no significant changes in the hepatic cells of these zones, compared to the histochemical feature of the granules in the hepatic cells of the control and the selenite groups. Consequently it is suggested that the lipid peroxidative decomposition of the microsomal membranes, which is induced with carbon tetrachloride, would be prevented by a previous administration of sodium selenite.
Animal ; Carbon Tetrachloride Poisoning*/pathology ; Cell Nucleus/drug effects ; Cytoplasm/drug effects ; Cytoplasmic Granules ; Lipids ; Liver/drug effects* ; Liver/pathology ; Male ; Mice ; Selenium/pharmacology* ; Vacuoles/drug effects

Becker muscular dystrophy is a X-linked recessive disease with the affected gene at locus Xp21, characterized by progressive muscular weakness. Without the definite family history, it has been known that the diagnosis of this disease is almost impossible on clinical grounds alone. We reviewed the muscle pathology of two casses of genetically confirmed Becker muscular dystrophy to know the diagnositc significances of this study. The first case, a 20 year old man, is the classical one with definite family history of X-linked recessive heredity. The muscle pathology of the biceps showed dystrophic muscular changes, including increased internal nuclei, marked variation of fiber sizes and mild endomysial fibrosis. The dystrophin stain of the muscle was also confirmative for the diagnosis. The second case was a 32 year old man who has been biopsied his left vastus lateralis 5 years before this genetic diagnosis. This case is a sporadic one without the family history. The diagnosis at the time of muscle biopsy was limb-girdle muscular dystorphy or inclusion body myositis because of the typical rimmed vacuoles and marked variation of fiber sizes. The dystophin stain was not available at that time. Our conclusion is that the molecular genetic study and/or dystrophin protein test of muscle biopsy should be done in every clinically suspected patient, including limb-girdle muscular dystorphy, inclusion body myositis or rimmed vacuolar myopathies.
Adult ; Biopsy ; Diagnosis ; Dystrophin ; Fibrosis ; Heredity ; Humans ; Incontinentia Pigmenti* ; Molecular Biology ; Muscle Weakness ; Muscular Diseases ; Muscular Dystrophy, Duchenne ; Myositis, Inclusion Body ; Pathology ; Quadriceps Muscle ; Vacuoles ; Young Adult

We describe a 59-year-old female with severe anticonvulsant hypersensitivity syndrome (AHS) associated with Epstein- Barr virus (EBV) infection. The causative drug was speculated to be carbamazepine. Recurrent EBV infection was demonstrated by the presence of anti-EBV early antigen IgM antibodies and anti-EBV nuclear antigen IgG antibodies. To our knowledge, only one case of drug hypersensitivity syndrome (DHS) associated with EBV has been reported in the English- language literature. Our case is the second report of EBV-associated DHS, which suggests that EBV infection may contribute to the pathogenesis of AHS in a few patients.
Virus Activation/*physiology ; Vacuoles/pathology ; Middle Aged ; Humans ; Herpesvirus 4, Human/drug effects/pathogenicity ; Female ; Erythema/etiology/virology ; Epstein-Barr Virus Infections/*physiopathology ; *Drug Hypersensitivity ; Anticonvulsants/*adverse effects

BACKGROUNDMyopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.

METHODSA clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.

RESULTSDisease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.

CONCLUSIONSWe reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

Adolescent ; Adult ; Child ; Deafness ; diagnosis ; physiopathology ; Dysarthria ; diagnosis ; physiopathology ; Electromyography ; Female ; Humans ; Male ; Muscle Weakness ; diagnosis ; physiopathology ; Muscle, Skeletal ; pathology ; physiopathology ; Muscular Diseases ; diagnosis ; physiopathology ; Muscular Dystrophy, Oculopharyngeal ; diagnosis ; physiopathology ; Pedigree ; Vacuoles ; pathology ; Vision Disorders ; diagnosis ; physiopathology ; Young Adult