glycogen and Skin-Diseases

Topics: Animals; Brain Chemistry; Diabetes Mellitus; Diuretics; Glycogen; Hepatolenticular Degeneration; Humans; Hypercholesterolemia; Hyperlipidemias; Liver; Liver Diseases; Poisoning; Skin Diseases; Thioctic Acid

A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease.. Open-label, multicenter study of IV alglucosidase alfa treatment in 21 infants 3-43 months old (median 13 months) with minimal acid alpha-glucosidase activity and abnormal left ventricular mass index by echocardiography. Patients received IV alglucosidase alfa every 2 weeks for up to 168 weeks (median 120 weeks). Survival results were compared with an untreated reference cohort.. At study end, 71% (15/21) of patients were alive and 44% (7/16) of invasive-ventilator free patients remained so. Compared with the untreated reference cohort, alglucosidase alfa reduced the risk of death by 79% (P < 0.001) and the risk of invasive ventilation by 58% (P = 0.02). Left ventricular mass index improved or remained normal in all patients evaluated beyond 12 weeks; 62% (13/21) achieved new motor milestones. Five patients were walking independently at the end of the study and 86% (18/21) gained functional independence skills. Overall, 52% (11/21) of patients experienced infusion-associated reactions; 95% (19/20) developed IgG antibodies to recombinant human lysosomal acid alpha-glucosidase; no patients withdrew from the study because of safety concerns.. In this population of infants with advanced disease, biweekly infusions with alglucosidase alfa prolonged survival and invasive ventilation-free survival. Treatment also improved indices of cardiomyopathy, motor skills, and functional independence.

Topics: alpha-Glucosidases; Body Height; Body Weight; Child, Preschool; Cough; Echocardiography; Enzyme-Linked Immunosorbent Assay; Female; Glycogen; Glycogen Storage Disease Type II; Humans; Immunoglobulin G; Infant; Kaplan-Meier Estimate; Male; Muscle, Skeletal; Skin Diseases; Time Factors; Treatment Outcome

Skin ulceration syndrome (SUS) is the main limitation in the development of Apostichopus japonicus culture industries, in which Vibrio splendidus has been well documented as one of the major pathogens. However, the intrinsic mechanisms toward pathogen challenge and disease outbreak remain largely unknown at the metabolic level. In this work, the metabolic responses were investigated in muscles of sea cucumber among natural SUS-diseased and V. splendidus-challenged samples. The pathogen did not induce obvious biological effects in A. japonicus samples after infection for the first 24 h. An enhanced energy storage (or reduced energy demand) and immune responses were observed in V. splendidus-challenged A. japonicus samples at 48 h, as marked by increased glucose and branched chain amino acids, respectively. Afterward, infection of V. splendidus induced significant increases in energy demand in A. japonicus samples at both 72 and 96 h, confirmed by decreased glucose and glycogen, and increased ATP. Surprisingly, high levels of glycogen and glucose and low levels of threonine, alanine, arginine, glutamate, glutamine, taurine and ATP were founded in natural SUS-diseased sea cucumber. Our present results provided essential metabolic information about host-pathogen interaction for sea cucumber, and informed that the metabolic biomarkers induced by V. splendidus were not usable for the prediction of SUS disease in practice.

Topics: Animals; Glucose; Glycogen; Host-Pathogen Interactions; Metabolome; Skin Diseases; Stichopus; Vibrio

Topics: Diabetes Mellitus; Eccrine Glands; Glycogen; Humans; Skin Diseases

The significance of clear cell change (clear reticulated cytoplasmic change) in the secretory portion of eccrine glands remains an enigma. It has been postulated to be a product of defective cellular glucose metabolism and potentially a predictor of diabetes. A series of 61 specimens from 38 patients were assessed to establish any demographic, seasonal, or metabolic associations. Sixty-one specimens from 38 patients with eccrine clear cell changes were identified prospectively by one of the authors (T.W.B.). Each specimen was stratified by site, age, sex, and season. For each patient, the general practitioner was contacted and diabetes status was ascertained. This was possible in 34 of 38 patients. Fifty routine consecutive cases from the archive in both summer and winter were studied for possible clear cell changes, looking for any seasonal variance. No clear association between the presence of eccrine clear cell change and any demographic or seasonal pattern was found. Specifically, there did not seem to be any significant association between diabetes and this histological finding. The prevalence of diabetes in cases with eccrine clear cell change was similar to the background population prevalence of diabetes in Australia (7.9% vs. 7.4%). The incidence of this finding is approximately 1 case in 189 specimens (0.5%) examined in this practice. Clear cell change within the secretory portion of eccrine glands seems to be an incidental finding, with no clear clinicopathological implication. In particular, there does not seem to be any association with diabetes.

Topics: Comorbidity; Diabetes Mellitus; Eccrine Glands; Female; Glycogen; Humans; Male; Periodic Acid-Schiff Reaction; Seasons; Skin Diseases; Western Australia

A 62-yr-old man was referred for management of GI polyposis. Large bowel polyps were initially diagnosed >25 yr ago, and the patient had undergone multiple colonoscopies and polypectomies. Personal and family history were notable for thyroid goiter and hypothyroidism. Physical examination was notable for lingular papillomatosis. No cutaneous lesions were seen. Upper endoscopy revealed esophageal glycogen acanthosis. There were multiple polyps throughout the stomach and the small and large intestines. Histology of these polyps showed multiple cell types including juvenile polyps, inflammatory polyps with fibromuscular proliferation and lamina propria ganglion cells, and focal adenomatous change. A clinical diagnosis of Cowden syndrome was made. Mutation analysis revealed a variant in exon 8 of the PTEN gene. Direct sequencing revealed a germline heterozygous C.892-895InsA, which is predicted to result in a truncated PTEN protein. Cowden syndrome is an underdiagnosed, underrecognized, autosomal dominant, inherited syndrome. For the gastroenterologist, esophageal acanthosis and multiple hamartomatous polyps should suggest the diagnosis. Sensitive molecular diagnostic tests looking for mutations in the appropriate genes are clinically available. Together with genetic counseling, molecular diagnostic testing will allow more accurate risk assessment and surveillance for cancer for both the patient and family members.

Topics: Endoscopy; Esophageal Diseases; Esophagus; Gastrointestinal Neoplasms; Germ-Line Mutation; Glycogen; Hamartoma Syndrome, Multiple; Humans; Hyperplasia; Male; Middle Aged; Mucous Membrane; Pedigree; Phosphoric Monoester Hydrolases; Polyps; PTEN Phosphohydrolase; Skin Diseases; Tumor Suppressor Proteins

We describe 13 cases of tricholemmal carcinoma, a rarely recognized cutaneous adnexal neoplasm. The patients were nine men and four women. In general, the tumors presented as slow-growing epidermal papules, indurated plaques, or nodules showing predilection for sun-exposed, hair-bearing skin. The lesions were most frequently misdiagnosed clinically as basal cell carcinoma. Histologically, they showed a variegation of growth patterns including solid, lobular, and trabecular; they were characterized by a proliferation of epithelial cells with features of outer root sheath differentiation, including abundant glycogen-rich, clear cytoplasm, foci of pilar-type keratinization, and peripheral palisading of cells with subnuclear vacuolization. Because of their variable growth pattern, overt cytologic atypia, abundant clear cytoplasm, occasional pagetoid intraepidermal spread, and brisk mitotic activity, these tumors may pose difficulties for diagnosis and be confused with other malignant skin tumors with clear cell changes. Despite the seemingly malignant cytological appearance of these lesions, clinical follow-up in 10 cases showed no recurrence or metastasis over a period of 2-8 years. Thus, conservative surgical excision with clear margins appears to be the treatment of choice for these neoplasms.

Topics: Adult; Aged; Aged, 80 and over; Carcinoma, Basal Cell; Carcinoma, Squamous Cell; Cytoplasm; Diagnosis, Differential; Epidermal Cyst; Epithelium; Female; Follow-Up Studies; Glycogen; Hair Diseases; Humans; Keratins; Male; Middle Aged; Mitosis; Neoplasms, Basal Cell; Skin Diseases; Skin Neoplasms; Vacuoles

We studied a case of idiopathic mucinosis follicularis which persisted for 7 months. Histologically, the strong pathological changes began within the sebaceous glands and secondarily occurred in other parts of the pilosebaceous unit. We could demonstrate by electron microscopy that all the follicular cells in this process were undifferentiated sebaceous cells. Therefore, we think that the pathogenesis of mucinosis follicularis originates from a disturbance in the differentiation process of sebaceous cells.

Topics: Adolescent; Epithelium; Facial Dermatoses; Folliculitis; Glycogen; Humans; Male; Microscopy, Electron; Mucins; Sebaceous Glands; Skin Diseases

A case of solitary xanthogranuloma was studied by optical and electron microscopy. The tumor parenchyma cells were composed mainly of multilocular lipid droplets together with rough-surfaced endoplasmic reticulum, a few mitochondria, glycogen particles, and fine filaments sparsely scattered throughout the cytoplasm. The parenchyma cells bore a close structural resemblance to Ito's "fat-storing cells" which are situated in Disse's space, contain lipid droplets and are thought to be the only cells participating in intralobular fibrillogenesis in the liver. Another notable finding was that the lipid droplets of the tumor parenchyma cells originated directly from rough-surfaced endoplasmic reticulum. Thus, the tumor morphology was incompatible with the currently favored concept of a benign, reactive non-neoplastic process of prominently histiocyte cells, being characterized instead by prominently fibroblastic cells.

Topics: Adult; Cell Nucleus; Cytoskeleton; Endoplasmic Reticulum; Glycogen; Granuloma; Humans; Lipids; Male; Organoids; Skin; Skin Diseases; Xanthomatosis

Topics: Cytoplasm; Eczema; Glycogen; Histocytochemistry; Humans; Mud Therapy; Neurodermatitis; Neutrophils; Psoriasis; Skin Diseases

Topics: Basement Membrane; Biopsy; Connective Tissue; Disulfides; DNA; Epithelium; Glycogen; Glycosaminoglycans; Histocytochemistry; Humans; Microscopy, Electron; Mouth Diseases; Mouth Mucosa; RNA; Skin Diseases; Sulfhydryl Compounds; Tyrosine

Topics: Adaptation, Physiological; Adipose Tissue; Adipose Tissue, Brown; Animals; Animals, Newborn; Body Temperature Regulation; Cold Temperature; Glycogen; Hair; Hibernation; Inclusion Bodies; Lipids; Male; Microscopy, Electron; Mitochondria; Mutation; Rats; Skin Diseases

Topics: Amylases; Chemical Phenomena; Chemistry; Cytoplasmic Granules; Galactose; Glucosamine; Glucose; Glycogen; Hexosamines; Histocytochemistry; Humans; Keratins; Microscopy, Electron; Organ Culture Techniques; Skin; Skin Diseases; Stimulation, Chemical

Topics: Acid Phosphatase; Glucuronidase; Glycogen; Glycosaminoglycans; Histocytochemistry; Humans; L-Lactate Dehydrogenase; Nucleic Acids; Precancerous Conditions; Skin; Skin Diseases; Skin Neoplasms; Succinate Dehydrogenase

Topics: Acne Vulgaris; Collagen; Cysts; Elastic Tissue; Erythema; Glycogen; Hair; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Infant, Newborn, Diseases; Lymphatic System; Nails; Pigmentation; Pigmentation Disorders; Sebaceous Glands; Skin; Skin Diseases; Sweat Glands; Sweating

Topics: Basement Membrane; Carcinoma; Dermatology; Diagnosis, Differential; Esterases; Fluorescent Antibody Technique; Glycogen; Histocytochemistry; Humans; Keratins; Keratoacanthoma; Keratosis; Lupus Erythematosus, Discoid; Mast-Cell Sarcoma; Psoriasis; Skin; Skin Diseases; Skin Neoplasms; Sweat Glands; Urticaria

Topics: Glycogen; Glycogenolysis; Humans; Metabolic Diseases; Skin Diseases; Skin Diseases, Vesiculobullous

Topics: Glycogen; Glycogenolysis; Muscles; Musculoskeletal Physiological Phenomena; Skin Diseases

Topics: Glycogen; Glycogenolysis; Humans; Metabolic Diseases; Skin Diseases

Topics: Animals; Glycogen; Mice; Skin; Skin Diseases; Soft Tissue Injuries; Wounds and Injuries

Topics: Epidermis; Glycogen; Skin Diseases

Topics: Epidermis; Glycogen; Glycogenolysis; Polysaccharides; Skin Diseases

Topics: Animals; Burns; Glycogen; Heart; Histamine; Rats; Skin Diseases; Soft Tissue Injuries