acid-phosphatase and Syndrome

Topics: Acid Phosphatase; Alleles; Autoantibodies; Autoimmune Diseases; Autoimmunity; Brain; Genes, Recessive; HLA Antigens; Humans; Isoenzymes; Lupus Erythematosus, Systemic; Mutation; Osteochondrodysplasias; Osteopontin; Phosphorylation; Risk; Syndrome; Tartrate-Resistant Acid Phosphatase

In experiments on male rabbits with the lack of insulin it is been revealed violations after the past immobilization the intensivity and duration of neutrophilic leukocytosis decrease, contents of lysosomes in neutrophils, activity of acid phosphatase. By lysosomal ferments don't determine the can observer discordance of processes of coagulation, fibrinolysis, kininogenesis.

Topics: Acid Phosphatase; Animals; Blood Glucose; Diabetes Mellitus, Experimental; Insulin; Leukocyte Count; Lysosomes; Male; Neutrophils; Rabbits; Restraint, Physical; Stress, Psychological; Syndrome; Time Factors

Congenital muscular dystrophy syndromes are characterized by congenital weakness, contractures, and dystrophic features on muscle biopsy. However, these syndromes are often difficult to diagnose precisely because their clinical and pathologic characteristics are not specific and resemble changes in other myopathies. We examined muscle biopsies from 20 children with a congenital muscular dystrophy syndrome. Disease controls with dystrophies or other myopathies (n=19) and normal individuals (n=15) were studied for comparison. In each biopsy we determined (1) numbers of muscle fibers with alkaline phosphatase (AlkP) staining, (2) numbers of acid phosphatase-(AcP) positive cells, (3) dystrophin levels by immunocytochemistry, and (4) the distribution of merosin and laminin-A staining. A ratio of AcP:AlkP staining was calculated for each biopsy. In nine patients with congenital muscular dystrophy (younger than 4 years of age) with normal dystrophin, the AcP:AlkP ratio was low (0.09 +/- 0.03). In contrast, in Duchenne muscular dystrophy, the AcP:AlkP ratio was 15 times higher (1.6 +/- 0.04, p=0.001). The three children with congetial muscular dystrophy syndromes and reduced dystrophin and one child with facioscapulohumeral dystrophy had AcP:AlkP ratios in the range of Duchenne muscular dystrophy patients (2.4 +/- 1.4). Low Ac:AlkP ratios were related to relative absence of AcP-positive cells. Merosin staining was absent in 5 of the 17 congenital muscular dystrophy biopsies tested. None of the 5 children with merosin-negative but all 12 with merosin-positive stains walked (p=0.0002). We conclude that a pattern of few AcP-positive cells in the setting of numerous AlkP staining muscle fibers has specificity for congenital muscular dystrophy syndromes and provides histopathologic support for the diagnosis. Reduced merosin in muscle predicts more severe weakness and long-term disability.

Topics: Acid Phosphatase; Adolescent; Alkaline Phosphatase; Child; Child, Preschool; Dystrophin; Female; Humans; Infant; Laminin; Male; Muscles; Muscular Diseases; Muscular Dystrophies; Reference Values; Staining and Labeling; Syndrome

The value of serum acid phosphatase (S-ACP) as a marker of transurethral resection (TUR) syndrome was studied in 105 patients undergoing TURP. In ten patients who developed TUR syndrome the elevation of S-ACP was statistically significantly higher than in the rest of the patients. In seven patients prostatic cancer was diagnosed in the resection chips, but there were no differences in the S-ACP levels during TURP between these patients and the rest of the group. According to the present study, S-ACP seems to be a reliable and cheap marker of TUR syndrome, but the method is slow as compared to ethanol, which restricts its use.

Topics: Acid Phosphatase; Aged; Clinical Enzyme Tests; Humans; Incidence; Male; Postoperative Complications; Prostatectomy; Prostatic Hyperplasia; Syndrome; Therapeutic Irrigation; Water-Electrolyte Imbalance

Topics: Acid Phosphatase; Humans; Male; Prostatectomy; Syndrome; Urethra

Topics: Acid Phosphatase; Humans; Male; Postoperative Complications; Prostate; Syndrome

The syndrome of rickets, alopecia, hypocalcemia, and high circulating levels of 1,25-dihydroxyvitamin D (1,25-(OH)2D) apparently is caused by resistance of target tissues to 1,25-(OH)2D. To evaluate this, we cultured cells from explants of long bone of one patient with this syndrome and from a control without any preexisting disorder of mineral metabolism. The cultured cells showed morphological features of fibroblasts but contained alkaline phosphatase activity without detectable acid phosphatase activity, indicating an osteoblastic origin for some or all of the cultured cells. Receptors for 1,25-(OH)2D were assessed by three methods: high affinity uptake of hormone in nuclei of dispersed cells, high affinity binding in hypertonic extracts (herein termed cytosol) from cells, and sedimentation velocity of bound [3H]1,25-(OH)2D3 in extracts of cell nuclei. With cells cultured from bone of the normal control, receptors for 1,25-(OH)2D exhibited properties indistinguishable from those found with cultured skin fibroblasts. With cells cultured from bone of the patient with resistance to 1,25-(OH)2D, high affinity uptake of 1,25-(OH)2D into nuclei was unmeasurable, but high affinity binding of hormone with cytosol was normal; these abnormal findings also were indistinguishable from abnormal findings obtained with fibroblasts cultured from skin of that patient.. 1) Cells cultured from explants of human bone showed morphological features of fibroblasts but retained a marker enzyme characteristic of osteoblasts. Significant admixture of osteoblast-like cells with fibroblasts was possible. 2) Cells cultured from bone of a patient with familial resistance to 1,25-(OH)2D exhibit a defect in vitamin D metabolism, indistinguishable from the defect observed with cells cultured from skin of the same patient.

Topics: Acid Phosphatase; Adolescent; Alkaline Phosphatase; Alopecia; Bone and Bones; Calcitriol; Cell Nucleus; Cells, Cultured; Child; Female; Fibroblasts; Humans; Hypocalcemia; Hypophosphatemia, Familial; Receptors, Calcitriol; Receptors, Steroid; Skin; Syndrome

Topics: Acid Phosphatase; Clinical Enzyme Tests; Eye Diseases; Genes, Dominant; Gonadal Dysgenesis; Humans; Iris; Isoenzymes; Kidney Neoplasms; L-Lactate Dehydrogenase; Pedigree; Syndrome; Wilms Tumor

Topics: Acid Phosphatase; Adenosine Triphosphatases; Bile Ducts; Humans; Jaundice, Chronic Idiopathic; Liver; Microscopy, Fluorescence; Syndrome

The activity of nonspecific phosphomonoesterases in cerebellar structure of newborns and infants with trisomies in the 13th (5 cases) 18th (4) and 21st (14) chromosomes was investigated. In all trisomies, changes of phosphatase activity in the cerebellar structures were demonstrated which were particularly marked with alkaline phosphatase. The activity of this enzyme increased not only in the vascular endothelium but in a number of cellular structures as well: in the external embryonal and internal granular layers of the cortex, in the nuclei of Purkinje cells and neurons of the nucleus dentatus, in the foci of heterotopia of cortical cells into the white matter and nucleus dentatus. In Edwards' syndrome the activity of alkaline phosphatase in cellular elements of the cerebellum was slightly higher than in the control group. Changes in the activity was observed in the cells of the external embryonal layer, neurons of the nucleus dentatus and in the cells of the heterotopic foci. In autosomal trisomies dystopic cells have dissimilar levels of phosphatase activity and stain mosaically which seems to confirm the assumption of their dissimilar differentiation.

Topics: Acid Phosphatase; Alkaline Phosphatase; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Chromosomes, Human, 16-18; Down Syndrome; Enzyme Activation; Histocytochemistry; Humans; Infant; Infant, Newborn; Syndrome; Trisomy

A case of the syndrome of sea-blue histiocyte is presented in a 53-year-old Japanese woman, which is the first recorded case in Japan. The patient had hepatosplenomegaly, bleeding manifestations, mild thrombocytopenia, fatty metamorphosis and cirrhosis of the liver, as well as abnormal serum lipid profiles. Her parents were consanguineous and her maternal grandmother with hepatomegaly died of hepatic failure. Histologically, peculiar histiocytes containing numerous, intracytoplasmic sea-blue stained granules on May-Giemsa stain were demonstrated in biopsy materials of the bone marrow, lymph node and liver. The sea-blue granules in these histiocytes proved to have histochemical staining characteristics of lipogenic ceroid-like pigment. Ultrastructurally, these granules showed membrane-bound, pleomorphic inclusions of heterogeneous nature, including electron-dense amorphous or variegatedly osmiophilic, frequently laminated materials. Enzyme cytochemically, localization of acid phosphatase activity was demonstrated in and around the intracytoplasmic inclusions. With regard to the pathogenesis of the sea-blue histiocytes in this case, it may be suggested that the existence of the abnormality in lipid metabolism plays an important role in intralysosomal ceroidogenesis in these histiocytes.

Topics: Acid Phosphatase; Bone Marrow; Female; Histiocytes; Histocytochemistry; Humans; Inclusion Bodies; Kupffer Cells; Liver; Lymphatic Diseases; Middle Aged; Syndrome; Triglycerides

The well-known clinical and radiological findings of idiopathic osteolysis (Hajdu-Cheney) are described in a 17-year old man. He also had retarded puberty, recurrent dislocation of the patella, dental anomalies and markedly elevated alkaline and acid serum phosphatase. The differential diagnosis of this rare condition and its relationship to other bone dysplasias is discussed.

Topics: Acid Phosphatase; Adolescent; Alkaline Phosphatase; Bone Resorption; Fingers; Humans; Male; Osteolysis; Puberty; Radiography; Syndrome; Toes; Tooth Abnormalities

Neuronal ceroid-lipofuscinosis is characterized by pigmentary degeneration of the retina, psychomotor degeneration, epilepsy and intracellular deposition of ceroidlipofuscin. Recent reports have suggested that deficiency of peroxidase is the basic genetic defect. However, deficiency of myeloperoxidase could be demonstrated in some but not all patients; this deficiency was noted only when p-phenylenediamine (PPD) was used as hydrogen donor and could not be confirmed with guaiacol. We found that horseradish peroxidase (HR-P) oxidized PPD in the absence of added H2O2. The oxidative product of PPD showed the same absorption spectrum as the peroxidative product. The oxidation of PPD by HR-P was not inhibited by catalase or superoxide dismutase. In addition, catalase oxidized PPD in the presence of H2O2. Soluble and granular fractions obtained from human polymorphonuclear leukocytes (PMN) also oxidized PPD in the absence of H2O2. Addition of H2O2 inhibited the oxidation of PPD in some cell fractions. This inhibition could be partially eliminated by dialysis of the cell fractions. Thus, PPD is not a suitable hydrogen donor for the study of peroxidase. This may explain the variable results obtained by the previous investigators. In contrast, guaiacol did not show these undesirable characteristics. The PMN peroxidase (measured with guaiacol), catalase, beta-glucuronidase, acid and alkaline phosphatases were studied in individuals from three families with juvenile neuronal ceroid-lipofuscinosis. Family 1: an affected boy and healthy parents; all showed normal enzyme activities in both soluble and granular fractions. Family 2: two affected sisters, one healthy sib and mother, and Family 3: one affected boy; all showed reduced peroxidase activities in the granular fractions. Other enzymes were normal. The role of peroxidase deficiency in the pathogenesis of neuronal ceroid-lipofuscinosis is not clear. The basic defect of this syndrome remains uncertain.

Topics: Acid Phosphatase; Adolescent; Alkaline Phosphatase; Catalase; Cell Fractionation; Ceroid; Child; Female; Glucuronidase; Granulocytes; Humans; Leukocytes; Lipidoses; Lipofuscin; Male; Peroxidases; Syndrome

A neurogenic lesion has been described in mother and son. In the son there was a prevalence of denervation changes whereas reinervation ones prevailed in the mother. In both, "central cores" were present in aggregations of type-1 fibres. In the authors' opinion the findings represent a neurogenic lesion (also verified clinically and electromyographically), less advanced in the son and more advanced in the mother, ultimately stabilizing to yield a pattern resembling that of the "central core disease".

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adult; Female; Humans; Male; Neuromuscular Diseases; Syndrome

Topics: Acid Phosphatase; B-Lymphocytes; Esterases; Humans; Lymphatic Diseases; Lymphoma; Mycosis Fungoides; Skin Neoplasms; Syndrome; T-Lymphocytes

The purpose of the investigation presented was to study whether the lymphocytes from patients with Spielmeyer-Vogt-Batten's syndrome deviate from normal with respect to acid phosphatase activity. The distribution of the activity seems to show that the patients with Spielmeyer-Vogt-Batten's syndrome can be divided into two groups, viz. one in which the values are concentrated around the normal level, and another with increased values.

Topics: Acid Phosphatase; Adolescent; Adult; Child; Epilepsy; Female; Humans; Lymphocytes; Male; Neutrophils; Pigmentation Disorders; Syndrome

A 28-year-old female, who showed a floppy baby syndrome during early infancy, had a non-progressive proximal muscle weakness with easy fatiguability since childhood. Two muscle specimens biopsied at the age of 28 years revealed myriads of 1-3-mum wide abnormal spaces containing neutral fat in type I and type II fibers. Both biopsies demonstrated a type I fiber preponderance. Electron microscopy demonstrated lipid excess and normal mitochondria by simple inspection. The mitochondrial area and sarcotubular membrane profile concentration in morphometry of longitudinal sections were also normal. Cross-sections, however, revealed a slight decrease of the individual mitochondrial size and of the sarcotubular membrane profile concentration . Serum and muscle carnitine levels and the muscle carnitine palmityltransferase level were all within normal range. Besides carnitine deficiency other biochemical defects can occur in lipid storage myopathy, which represents a syndrome rather than a unique disease entity.

Topics: Acetyltransferases; Acid Phosphatase; Adenosine Triphosphatases; Adult; Carnitine; Electromyography; Female; Humans; Lipid Metabolism; Lipidoses; Male; Mitochondria, Muscle; Muscles; Muscular Diseases; Myofibrils; NADH, NADPH Oxidoreductases; Syndrome

A 76 year old man with mycosis fungoides developed an immunoblastic sarcoma and a leukemic blood picture in the final tumor stage after 6 years, in which the disease had clinically progressed in a typical manner. The results of histological and cytochemical studies of autopsy material are presented. Based on these findings and evidence of the T cell nature of mycosis fungoides, the immunoblastic sarcoma observed in the terminal stage of this case of mycosis fungoides might be of the rare T cell type.

Topics: Acid Phosphatase; Aged; Esterases; Humans; Leukemia; Leukocyte Count; Lymphoma, Non-Hodgkin; Male; Mycosis Fungoides; Skin Neoplasms; Syndrome; T-Lymphocytes

Topics: Acid Phosphatase; Acute Disease; Alkaline Phosphatase; Child, Preschool; Croup; Histocytochemistry; Humans; Infant; Laryngitis; Leukocytes; Succinate Dehydrogenase; Syndrome

Topics: Acid Phosphatase; Blood Protein Disorders; Carcinoembryonic Antigen; Cold Temperature; Diagnosis, Differential; Fibrinogen; Humans; Lymphatic Metastasis; Male; Middle Aged; Stomach Neoplasms; Syndrome; Thrombophlebitis

Topics: Acid Phosphatase; Bone Marrow; Cell Nucleus; Dermatitis, Exfoliative; Glucuronidase; Humans; Immunoglobulins; Keratoderma, Palmoplantar; Lymph Nodes; Lymphatic Diseases; Microscopy, Phase-Contrast; Staining and Labeling; Syndrome; T-Lymphocytes

Topics: Acid Phosphatase; Axons; Biopsy; Child, Preschool; Diagnosis, Differential; Disulfides; Glycogen; Hair; Histocytochemistry; Humans; Male; Microscopy, Electron; NADH, NADPH Oxidoreductases; Neurofibrils; Peripheral Nervous System Diseases; Schwann Cells; Skin Manifestations; Sulfhydryl Compounds; Syndrome; Tetrazolium Salts; Thiamine Pyrophosphate

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adult; Blepharoptosis; Deglutition Disorders; Facial Paralysis; Female; Glycogen; Hearing Disorders; Humans; Lipid Metabolism; Male; Microscopy, Electron; Mitochondria, Muscle; Muscles; Myofibrils; NADH, NADPH Oxidoreductases; Neuromuscular Diseases; Ophthalmoplegia; Pedigree; Speech Disorders; Syndrome

Topics: Acid Phosphatase; Cytoplasm; Dermatitis, Exfoliative; Glucuronidase; Humans; Keratoderma, Palmoplantar; Leukemia, Lymphoid; Leukocyte Count; Lymphatic Diseases; Lymphocytes; Syndrome

Topics: Acid Phosphatase; Cerebral Cortex; Child; Chorea; Dementia; Female; Histocytochemistry; Humans; Inclusion Bodies; Lipidoses; Male; Microscopy, Electron; Neurons; Pigments, Biological; Seizures; Speech Disorders; Syndrome

Topics: ABO Blood-Group System; Acid Phosphatase; Aminohydrolases; Bone and Bones; Dental Enamel Hypoplasia; Face; Genes, Dominant; Hair; Haptoglobins; Hemoglobins; Humans; Lewis Blood Group Antigens; Pedigree; Phosphoglucomutase; Phosphogluconate Dehydrogenase; Phosphotransferases; Rh-Hr Blood-Group System; Syndrome; Transferrin

Topics: Acid Phosphatase; Biopsy; Child; Child, Preschool; Electroencephalography; Electromyography; Female; Fundus Oculi; Humans; Infant; Lipidoses; Male; Microscopy, Electron; Myotonic Dystrophy; Neurologic Examination; Ophthalmoscopy; Pedigree; Retinal Degeneration; Schwann Cells; Sural Nerve; Syndrome; Visual Acuity

Topics: Acid Phosphatase; Adult; Bone Marrow; Erythrocytes; Hematocrit; Hemoglobinopathies; Hemoglobins, Abnormal; Hemolysis; Humans; Iron; Iron Radioisotopes; Male; Syndrome; Transferrin

Topics: Acid Phosphatase; Adolescent; Adult; Bone Marrow; Bone Marrow Cells; Child; Female; Gaucher Disease; Histiocytes; Humans; Inclusion Bodies; Lactose Intolerance; Male; Pedigree; Peripheral Nervous System Diseases; Pigmentation Disorders; Splenomegaly; Staining and Labeling; Syndrome

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adult; Alkaline Phosphatase; Electron Transport Complex IV; Fibrinolysis; Gastrointestinal Diseases; Histocytochemistry; Humans; Intestinal Diseases; Male; Microscopy, Electron; Middle Aged; Skin; Skin Diseases; Skin Tests; Skin Ulcer; Succinate Dehydrogenase; Syndrome; Thrombosis

Topics: Acid Phosphatase; Biopsy; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Cytoplasm; Female; Fibroblasts; Glycosaminoglycans; Histocytochemistry; Humans; Infant; Intellectual Disability; Lysosomes; Macrophages; Male; Microscopy, Electron; Mucopolysaccharidoses; Retinitis Pigmentosa; Schwann Cells; Skin; Syndrome

Topics: Acid Phosphatase; Adult; Amniocentesis; Cardiomegaly; Female; Fetal Diseases; Genes, Recessive; Glucose; Glucosidases; Glycogen Storage Disease; Heart Defects, Congenital; Heart Diseases; Heterozygote; Humans; Infant, Newborn; Lectins; Lymphocytes; Male; Myocardium; Pregnancy; Prenatal Diagnosis; Syndrome; Time Factors

Topics: Acid Phosphatase; Adolescent; Alkaline Phosphatase; Arm; Bone and Bones; Bone Diseases, Developmental; Child; Child, Preschool; Collagen; Diagnosis, Differential; Female; Haversian System; Humans; Infant; Infant, Newborn; Leg; Male; Metabolism, Inborn Errors; Osteitis Deformans; Pelvic Bones; Radiography; Skull; Syndrome

Topics: Acid Phosphatase; Alkaline Phosphatase; Aminopeptidases; Biomedical Research; Celiac Disease; Diet; Diet Therapy; Dihydrolipoamide Dehydrogenase; Endopeptidases; Enzymes; Esterases; Glucosephosphate Dehydrogenase; Glucuronidase; Histocytochemistry; Humans; Intestine, Small; Intestines; Jejunum; L-Lactate Dehydrogenase; Lipodystrophy; Monoamine Oxidase; Mucous Membrane; Oxidoreductases; Pathology; Succinate Dehydrogenase; Syndrome; Whipple Disease