Central nervous system involvement in X-linked myotubular myopathy.
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Adenosine Triphosphatases↗
Biomedical subjects
B Glick
Publications and source records attributed to B Glick.
Who's the patient here? Inpatient psychiatric rehabilitation in a state hospital setting.
1. The primary focus of psychiatric rehabilitation is on improving the competencies of persons with psychiatric disabilities. 2. Both patients and staff must change their ideas about themselves and each other before the work of rehabilitation could move forward. 3. Institutional rigidity works against psychiatric rehabilitation, with its value on individual growth and self-sufficiency.
Activities of Daily Living↗
Autosomal dominant pattern of distal subungual onychomycosis caused by Trichophyton rubrum.
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Adult↗
Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.
We describe three siblings who presented with short stature, hyperactivity, delayed speech and moderate psychomotor retardation. In addition, they had dysmorphic features, a peculiar combination of skeletal abnormalities, small kidneys and exaggerated fasting ketosis. We suggest that they represent a new syndrome. The possibility of end-organ receptor failure is suggested.
Abnormalities, Multiple↗
Diagnosing and treating onychomycosis.
Onychomycosis is a persistent fungal infection of the toenails or fingernails that is usually not painful but is unsightly and can affect a patient's quality of life by interfering with footwear. It may affect up to 30% of the population by age 60. In more that 99% of cases, it is caused by dermatophytes, the most common of which are Trichophyton rubrum and Trichophyton mentagrophytes. Each of the four clinical types of onychomycosis, as defined by the route of fungal invasion, has a characteristic appearance, but other diseases, particularly psoriasis, may have a similar appearance. Proper management, therefore, includes confirmation of fungal infection by potassium hydroxide slide preparation and culture. Traditionally, pharmacologic treatment has been less than optimal. In many cases, griseofulvin, the first oral agent approved for onychomycosis in the United States, must be given for 1 year or more to be effective. Low cure rates are related to poor bioavailability and the fungistatic rather than fungicidal effect of the drug. Newer agents, such as oral itraconazole and oral terbinafine, promise to substantially increase cure rates while shortening treatment duration. Oral terbinafine is potently fungicidal against dermatophytes and has proven efficacious with regimens as brief as 12 weeks when the nail is not 100% involved.
Antifungal Agents↗
Dendritic cells in the bursal follicles and germinal centers of the chicken's caecal tonsil express vimentin but not desmin.
BACKGROUND: Immunohistochemical studies with anti-vimentin and anti-desmin monoclonal antibodies were designed to determine the origin of bursal secretory dendritic cells (SDC) and follicular dendritic cells. METHODS: The binding sites of anti-vimentin, anti-desmin, and anti-chicken-IgG specific monoclonal antibodies were visualized with a biotinylated anti-mouse-IgG, ABC Elite kit, and 4-chloronaphthol. Cells were double stained (anti-vimentin and rabbit anti-chicken-IgG Fc) to determine if the vimentin positive cells possessed surface IgG. RESULTS: Vimentin positive cells were observed in the cortex and medulla of the bursa and germinal center and lymphoepithelial compartment of the caecal tonsil. The mesenchymal reticular cell, the basic supporting cell of the germinal center, was stained prominently by anti-vimentin and anti-desmin. Both antibodies stained the bursal cortex but only anti-vimentin bound the bursal secretory dendritic cell of the medulla. In addition to being vimentin positive and desmin negative, the bursal secretory dendritic cell possessed and the follicular dendritic cell appeared to possess IgG on their surfaces. In all the observations, B-cells were vimentin negative. CONCLUSION: These studies suggest that follicular dendritic cells and mesenchymal reticular cells in the caecal tonsil's germinal centers may be functionally different cell populations while the bursal secretory dendritic cell and follicular dendritic cell of the caecal tonsil may have a common origin.
Animals↗
Characterization of a novel monoclonal antibody, EIV-E12, raised against enriched splenic ellipsoid-associated cells.
A monoclonal antibody, EIV-E12, was produced against ellipsoid-associated cells. In postnatal chicks, the antigen defined by EIV-E12 associated with about 90% of bursal cells and accumulated in B cell-rich areas of lymphoid organs. The antigen was expressed by many splenic cells on day 9 of embryogenesis and about 1 day later in the bursal anlage, where the cells positive for the antigen localized in close proximity to the plical epithelium. In the bursa, these early EIV-E12 cells appeared before Bu-1-positive cells and may represent a dendritic cell precursor. B cells within the developing bud acquired the EIV-E12 antigen. Immunoprecipitation studies revealed a molecular weight of 233 (nonreduced) and 205 (reduced) for the EIV-E12 antigen. These values were markedly different from the molecular weight of the antigen identified by Bu-1 but similar to that of a CB10 antigen. The CB10 and EIV-E12 MAbs exhibited some differences in cellular staining. Taken together these data suggest that EIV-E12 MAb recognizes a unique cellular population during embryogenesis.
Animals↗
Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.
The Antley-Bixler syndrome (ABS) is characterized by craniofacial, skeletal and urogenital anomalies. While most patients with ABS die of severe respiratory complications in their first months, long-term survivors have been reported. We report an infant girl, born to a consanguineous couple, with craniofacial and skeletal anomalies, consistent with ABS, in addition to atresia of the esophagus and trisomy 21.
Abnormalities, Multiple↗
Embryogenesis of the bursa of Fabricius: stem cell, microenvironment, and receptor-paracrine pathways.
The bursa of Fabricius is an ideal model system to answer the plethora of questions related to the origin of B cells and microenvironmental issues leading to the education of the stem cell. Prior to the 1960s, lymphocytes were thought to be derived from epithelial or mesenchymal cells. Later work demonstrated the bloodborne nature of the stem cell contributing to B cells. Stem cells entered the bursa of quail and chicken between 7 and 11 and 7.5 and 14 d of embryogenesis, respectively. Interspecific chimeric studies, quail and chick, emphasized the intraembryonic origin and sites of the stem cell. The bloodborne and stromal cells that contribute to the microenvironment of the bursa orchestrate the events leading to B cell differentiation. The separation of the endodermal and mesodermal components of the bursa revealed a singular role for the endoderm in the genesis of the bursa but did not exclude a role for the mesoderm. A dark mesenchymal cell was shown to play a role in bud formation. This cell gave rise to the bursal secretory dendritic cell (BSDC), unique in its membrane association with IgG. A receptor-paracrine thesis has been proposed to explain the interaction between in-frame B cells and Ig-positive BSDC in the expansion of in-frame B cells and the subsequent development of the B cell repertoire. Cell adhesion molecules have been integrated into this thesis.
Animals↗
MELAS syndrome: peripheral neuropathy and cytochrome C-oxidase deficiency: a case report and review of the literature.
A 4-year-old boy presented with developmental delay, aggressive behavior, and incoordination. His EEG showed a diffuse encephalopathy. At age 10 he developed convulsions and severe migraine-like headaches. Muscle wasting, arreflexia, and lactic acidemia following exercise were noted. Electromyography was myopathic and nerve conduction studies revealed a peripheral neuropathy. Muscle biopsy demonstrated variation in fiber size and an excess of lipid droplets. He than had several stroke-like episodes and periods of unconsciousness, associated with severe metabolic acidosis. Muscle cytochrome C oxidase was abnormally low. This boy displayed the classical clinical and biochemical features of MELAS syndrome, namely Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Treatment included carnitine, vitamin C, vitamin K, riboflavin, coenzyme Q10, and corticosteroids. He died at the age of 14 years following an episode of seizures, coma, and gastrointestinal hemorrhage. This is the first reported case of MELAS syndrome in Israel.
Child, Preschool↗
The bursa of Fabricius: the evolution of a discovery.
It has been a joy these past 40 yr to have traveled the "Bursal Road"--a road we helped construct and whose route allowed us to make a variety of observations that contributed either to basic science or indirectly or directly to the role of the bursa of Fabricius in the B cell repertoire. The chicken's bursa of Fabricius introduced me to endocrine, heritability, and growth studies, which allowed serendipity to occur and the revelation of the classical and modification of the classical theses of bursal function. The modification of the classical thesis, presence of immunoglobulin in the absence of the bursa, raised questions that directed us to study hypothalamic control of behavior, which was not directly related to bursal function. This forced us to learn various techniques, e.g., autoradiography, cell labeling, and electron microscopy, that made it possible to study long- and short-lived lymphocytes, lymphokines, labeled cells, and the fine structure and function of the bursa of Fabricius, cecal tonsil, Harderian gland, lymph nodes, Meckel's diverticulum, Pineal gland, and spleen. In an attempt to use cyclophosphamide to understand how the spleen acquired the ability to produce antibodies, we revealed a dendritic cell in the bursa, the bursal-secretory dendritic cell (BSDC), and in the spleen, the ellipsoid-associated cell (EAC). The BSDC is a novel cell in the bursal microenvironment and may be involved in an interaction with prebursal or bursal stem cells, leading to the differentiation or selection of the B cell repertoire of the chicken.
Animals↗
Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects.
We report on a child with mental retardation, spasticity, and distal transverse defects of the limbs born to healthy parents related as first cousin. This is the third child reported to be affected with the syndrome described by Jancar. We confirm the existence of the syndrome as a separate entity and raise possibility that it may be inherited as an autosomal recessive trait.
Abnormalities, Multiple↗
Bursal secretory dendritic-like cell: a microenvironment issue.
In 1978, Olah and Glick identified in the medulla of the bursa of Fabricius a dendritic cell, the bursal secretory dendritic-like cell (BSDC). The morphology of BSDC, the functional relationship of BSDC to bursal follicle development and the spleen, and the identification in the embryo of the BSDC precursor was reported. The precursor BSDC appeared in the bursa before B cells. A monoclonal antibody to vimentin, an intermediate filament, will identify BSDC and not B cells in posthatch chickens. The vimentin-positive cells, but not B cells, in hatched chicks express complete IgG chain. Taken together, the present data may contribute to the events occurring during the bursal-dependent stages of B cell development. Immunoglobulin gene rearrangement, within the bursa or at extra-bursal sites, and clonal expansion at extra-bursal sites are antigen-independent and dependent, respectively. The bursal-dependent stage includes the expansion of the Ig rearranged cells and gene conversion, which contributes to antibody diversity. The IgG and granular products produced by BSDC may act as ligand and signals for B cell expansion and gene conversion.
Animals↗
Anti-vimentin monoclonal antibody recognizes a cell with dendritic appearance in the chicken's bursa of Fabricius.
The bursa of Fabricius was studied by immunohistochemical method using anti-vimentin monoclonal antibody (clone 3B4). This monoclonal antibody identified a vimentin positive cell in the medulla of the bursal follicle. During the first 2 weeks of life the vimentin positive cells located along the corticomedullary border and later became prominent in the medulla with the exception of a narrow zone adjacent to the corticomedullary border. After hatching the accumulation of vimentin-type intermediate filaments on one side of the nucleus endowed the vimentin positive cells with a polarized appearance. This "cap-like" vimentin positive area of the cytoplasm determined the position of the major cell process. Within the medulla the Ia positive secretory dendritic cells contained secretory granules in one of the cell processes. The distribution, shape, and polarized appearance of the vimentin positive cells were identical with that of the secretory dendritic cells. Therefore, the anti-vimentin monoclonal antibody proved to be useful for identification of the bursal secretory dendritic cells. During rapid bursal growth the number of secretory dendritic cells increased, possibly, by proliferation of vimentin negative secretory dendritic cell precursors located along the corticomedullary border.
Animals↗
Differentiation of bursal secretory-dendritic cells studied with anti-vimentin monoclonal antibody.
Embryonic and posthatched differentiation of bursal secretory dendritic cells, which express vimentin intermediate filaments, were studied with anti-vimentin (clone 3B4) and anti-cytokeratin (clone Lu5) monoclonal antibodies. Anti-cytokeratin staining revealed that medullary reticular epithelial cells formed a continuous network at every age, whereas the vimentin positive cells were single and showed dendritic appearance. On the basis of location, number, shape, polarized appearance, and Ia staining, the vimentin-positive cells and secretory dendritic cells appeared to be the same cell. Secretory dendritic cell precursors entered the bursal epithelium between 11 and 13 days of embryogenesis. The first vimentin positive cell appeared in the bud of 14-day embryos. Bud formation preceded the appearance of vimentin-positive cells. These observations suggested that the secretory dendritic cell precursor did not express vimentin when it entered the epithelium. Between 15 days of embryogenesis and 2 weeks of posthatch development, the changes in vimentin staining pattern revealed a cytological differentiation of the vimentin-positive cell. During rapid bursal growth, the number of secretory dendritic cells (vimentin-positive cells) increased about 18 times possibly by proliferation of vimentin-negative precursors in the epithelial arches of the corticomedullary border.
Animals↗
Follicle-associated epithelium and medullary epithelial tissue of the bursa of fabricius are two different compartments.
The bursae of Fabricius from the chicken and turkey were studied by light and electron microscopy and immunohistochemical methods. The study focused on the relationship of follicle-associated epithelium to the medulla. The follicle-associated epithelium was supported by 3 to 5 layers of stratified epithelial cells which were a continuation of the corticomedullary epithelial cells. The follicle-associated epithelium consisted of M cells and scattered secretory dendritic cells. The network of the reticular epithelial cells of the medulla was filled with secretory dendritic cells, B cells, and a few T cells and macrophages. The cellular content of the follicle-associated epithelium and the medulla suggested that they were different cellular compartments. Communication between the follicle associated epithelium and medullary epithelial compartment occurred through the supporting cells of the follicle-associated epithelium. When the supporting layers of the follicle-associated epithelium infolded into the medulla, they formed lamellated epithelial bodies similar to the thymic Hassall bodies. The lamellated bodies enclosed secretory dendritic cells but not lymphocytes. The infolding of supporting cells varied from follicle to follicle. The asynchronization of infolding contributed to heterogeneity of follicle composition. Follicle heterogeneity was demonstrated by differences in reactivity with a battery of monoclonal antibodies.
Animals↗
Acute severe combined demyelination.
We present a second case in which Guillain-Barré syndrome (GBS) and acute disseminated encephalomyelitis (ADEM) appeared simultaneously, both in acute and fulminant form. The patient, a 10-year-old girl, presented with acute onset of coma and flaccid, are-flexic quadriparesis. The elevated CSF protein levels and delayed F waves fulfilled the criteria of GBS and an MRI study revealed extensive multifocal demyelination compatible with a diagnosis of ADEM. Prompt clinical response followed by complete recovery was achieved by treatment with corticosteroids. It is suggested that acute severe combined demyelination might constitute a separate entity in which the demyelinating process, involving simultaneously the central and the peripheral nervous systems, indicates immune response against a component of the myelin of one system carrying cross-antigenicity with the other.
Acute Disease↗
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Hypotonia was the initial symptom in four siblings from a nonconsanguineous Tunisian-Jewish family. Plasma carnitine was severely deficient, and urinary organic acid analysis revealed increased excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. 3-Methylcrotonyl-coenzyme A carboxylase activity was reduced in skin fibroblasts; pyruvate carboxylase and serum biotinidase activities were normal. We conclude that 3-methylcrotonyl-coenzyme A carboxylase deficiency should be added to the list of metabolic causes of familial hypotonia of childhood.
Carbon-Carbon Ligases↗