Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.3.1 (alkaline phosphatase)
47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Comparative treatment of ivermectin in 21 patients (Group 1) and albendazole in 49 patients (Group 2) of gnathostomiasis gave the cure at 95.2% and 93.8% respectively. The ELISA OD and eosinophil counts were reduction after treatment. Side effects in ivermectin were hypotention, dizziness, weakness and diuresis; and side effects of albendazole were nausia, dizziness and increased alkaline phosphatase in two cases. Ivermectin should be an effective drug againts gnathostomiasis and more convenient in treatment single dose.
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PMID:Comparison of ivermectin and albendazole treatment for gnathostomiasis. 1112 42

We reported two patients with polymyositis (PM) associated with primary biliary cirrhosis (PBC) who noticed head-drop as the incipient symptom. Muscle computed tomography showed marked hypodensity in the paravertebral muscles as compared with limb muscles. Patient 1, a 48-year-old female, was admitted in our hospital for the examination because of her neck and proximal limb muscle weakness, increasing fatigability, and abnormal serum liver and muscle enzyme levels. She felt her throat was so dry at age 39, and she noticed weight loss at age 41 and head-drop at age 42. A diagnosis of PM was made from symmetrical proximal limb muscle weakness, elevated creatine kinase (CK) level, and the electromyographic and muscle biopsy findings. Her illness was also diagnosed as PBC because of the increased serum alkaline phosphatase and IgM immunoglobulin levels, and liver biopsy findings. The anticentromere antibody titer was positive, though the antimitochondrial antibody titer negative. The HLA typing was DR 4, DR 8, DR53, DQ 4, DQ 6, DRB 1 (0405/0803). She was placed on 60 mg of prednisolone/day for PM and 300 mg of ursodeoxycholic acid/day for PBC. Patient 2, a 49-year-old female, presented with proximal limb muscle weakness and head-drop. Serum CK, alkaline phosphatase and IgM immunoglobulin levels were increased. The antimitochondrial antibody titer was positive. She began to have 60 mg of prednisolone/day, and 50 mg of azatioprine/day and 300 mg of ursodeoxycholic acid/day were subsequently added. PM associated with PBC seems to be rare, because only 21 cases have been described in literature. In those patients, marked paravertebral muscle atrophy has never been described. Further study is necessary to examine whether or not the preferential paravertebral muscle involvement is a striking and diagnostic finding for PM with PBC.
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PMID:[Polymyositis with marked paravertebral muscle atrophy in patients with primary biliary cirrhosis]. 1118 7

A 47-year-old woman suffered from gait disturbance due to back pain and muscle weakness. Laboratory data showed serum hypophosphatemia, elevated alkaline phosphatase, and a normal level of ionized calcium. Radiological examinations revealed multiple pathologic fractures in the ribs and pubic rami. She had had no episode of familial or any other notable disorder, and so she was initially treated with medication for adult-onset osteomalacia. However, 19 years later (when she was 66 years old), she noticed a soft-tissue tumor in her buttock. The tumor was excised. The histological features were those of glomangiopericytoma characterized by both glomus tumor-like and hemangiopericytoma-like structures. After removal of the tumor, her symptoms disappeared immediately. Laboratory data normalized 8 months later. To our knowledge, this is the first report of oncogenic osteomalacia caused by glomangiopericytoma.
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PMID:Glomangiopericytoma causing oncogenic osteomalacia. A case report with immunohistochemical analysis. 1119 5

It is widely appreciated that health food beverages are not appropriate for infants. Because of continued growth, children beyond infancy remain susceptible to nutritional disorders. We report on 2 cases of severe nutritional deficiency caused by consumption of health food beverages. In both cases, the parents were well-educated, appeared conscientious, and their children received regular medical care. Diagnoses were delayed by a low index of suspicion. In addition, nutritional deficiencies are uncommon in the United States and as a result, US physicians may be unfamiliar with their clinical features. Case 1, a 22-month-old male child, was admitted with severe kwashiorkor. He was breastfed until 13 months of age. Because of a history of chronic eczema and perceived milk intolerance, he was started on a rice beverage after weaning. On average, he consumed 1.5 L of this drink daily. Intake of solid foods was very poor. As this rice beverage, which was fallaciously referred to as rice milk, is extremely low in protein content, the resulting daily protein intake of 0.3 g/kg/day was only 25% of the recommended dietary allowance. In contrast, caloric intake was 72% of the recommended energy intake, so the dietary protein to energy ratio was very low. A photograph of the patient after admission illustrates the typical features of kwashiorkor: generalized edema, hyperpigmented and hypopigmented skin lesions, abdominal distention, irritability, and thin, sparse hair. Because of fluid retention, the weight was on the 10th percentile and he had a rotund sugar baby appearance. Laboratory evaluation was remarkable for a serum albumin of 1.0 g/dL (10 g/L), urea nitrogen <0.5 mg/dL (<0.2 mmol/L), and a normocytic anemia with marked anisocytosis. Evaluation for other causes of hypoalbuminemia was negative. Therapy for kwashiorkor was instituted, including gradual refeeding, initially via a nasogastric tube because of severe anorexia. Supplements of potassium, phosphorus, multivitamins, zinc, and folic acid were provided. The patient responded dramatically to refeeding with a rising serum albumin and total resolution of the edema within 3 weeks. At follow-up 1 year later he continued to do well on a regular diet supplemented with a milk-based pediatric nutritional supplement. The mortality of kwashiorkor remains high, because of complications such as infection (kwashiorkor impairs cellular immune defenses) and electrolyte imbalances with ongoing diarrhea. Children in industrialized countries have developed kwashiorkor resulting from the use of a nondairy creamer as a milk alternative, but we were unable to find previous reports of kwashiorkor caused by a health food milk alternative. We suspect that cases have been overlooked. Case 2, a 17-month-old black male, was diagnosed with rickets. He was full-term at birth and was breastfed until 10 months of age, when he was weaned to a soy health food beverage, which was not fortified with vitamin D or calcium. Intake of solid foods was good, but included no animal products. Total daily caloric intake was 114% of the recommended dietary allowance. Dietary vitamin D intake was essentially absent because of the lack of vitamin D-fortified milk. The patient lived in a sunny, warm climate, but because of parental career demands, he had limited sun exposure. His dark complexion further reduced ultraviolet light-induced endogenous skin synthesis of vitamin D. The patient grew and developed normally until after his 9-month check-up, when he had an almost complete growth arrest of both height and weight. The parents reported regression in gross motor milestones. On admission the patient was unable to crawl or roll over. He could maintain a sitting position precariously when so placed. Conversely, his language, fine motor-adaptive, and personal-social skills were well-preserved. Generalized hypotonia, weakness, and decreased muscle bulk were present. Clinical features of rickets present on examination included: frontal bossing, an obvious rachitic rosary (photographed), genu varus, flaring of the wrists, and lumbar kyphoscoliosis. The serum alkaline phosphatase was markedly elevated (1879 U/L), phosphorus was low (1.7 mg/dL), and calcium was low normal (8.9 mg/dL). The 25-hydroxy-vitamin D level was low (7.7 pg/mL) and the parathyroid hormone level was markedly elevated (114 pg/mL). The published radiographs are diagnostic of advanced rickets, showing diffuse osteopenia, frayed metaphyses, widened epiphyseal plates, and a pathologic fracture of the ulna. The patient was treated with ergocalciferol and calcium supplements. The published growth chart demonstrates the dramatic response to therapy. Gross motor milestones were fully regained within 6 months. The prominent neuromuscular manifestations shown by this patient serve as a reminder that rickets should be considered in the differential diagnosis of motor delay. (ABSTRACT TRUNCATED)
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PMID:Severe nutritional deficiencies in toddlers resulting from health food milk alternatives. 1133 66

Four litters (41 pigs) of cross-bred pigs were studied from 6 to 26 weeks of age. Blood samples were collected at 6, 13, 21 and 26 weeks of age and analysed for contents of vitamin C, calcium (Ca), inorganic phosphorus (P) and alkaline phosphatase (ALP). The pigs were examined clinically for foreleg weakness at the ages of 21 and 26 weeks. At the age of 26 weeks the pigs were slaughtered and the right forelegs were examined macroscopically and selected samples were collected for radiological, histological and ultrastructural examination. The prevalence of foreleg lesions was high, with lesions of dyschondroplasia of the distal growth plate of the ulna in 30 pigs, synovitis of the elbow joint in 24 pigs and osteochondritis dissecans of the elbow joint in 25 pigs. At the ages of 21 and 26 weeks, five pigs had evidently crooked forelegs and 14 pigs (age 21 weeks) and 25 pigs (age 26 weeks) had mildly deformed forelegs. The serum levels of Ca, P and ALP were within normal values for growing-finishing pigs. The range of vitamin C concentrations in plasma showed a wide difference (7.1-49.8 mumol/l) but was not associated with deformed forelegs. The serum concentrations of Ca, P and ALP and the plasma concentration of vitamin C differed significantly (P = 0.05) between age groups and there was a significant (P = 0.001) positive correlation between the levels of vitamin C in plasma and the serum levels of ALP at 6 weeks of age. The aim of the present study was to determine if there was any association between the plasma levels of vitamin C and the extent of crooked or deviated forelegs in growing-finishing pigs. We could not find a vitamin C deficiency during the study and no association between low levels of vitamin C in plasma and the presence of deformed forelegs of these 40 pigs.
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PMID:Vitamin C plasma concentrations and leg weakness in the forelegs of growing pigs. 1137 90

Four cases of hypovitaminosis D were seen in a general practitioner's population in the Netherlands: a Somalian veiled woman aged 53 and her 11-year-old daughter, a dark-skinned Surinam woman aged 31, and a veiled Moroccan woman aged 56 years. This cause of myopathy has only been recently recognised and is more prevalent than often thought, especially in high-risk groups such as veiled and dark-skinned immigrants who lack sunlight in the Netherlands. Symptoms are muscle pain and mainly proximal muscle weakness resulting in difficulties in ascending a staircase or getting up out of a chair. The diagnosis is made on the basis of a detailed history and measurement of serum 25-hydroxyvitamin D. Calcium and serum alkaline phosphatase activity may be normal. Treatment with ergocalciferol is effective and cheap. As diagnosis and treatment are relatively simple, finding and treating hypovitaminosis D is a rewarding challenge to primary health care practitioners in the Netherlands.
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PMID:[Hypovitaminosis D: a veiled diagnosis]. 1178 59

We recently found mutations of the transforming growth factor beta 1 (TGF-beta1) gene (TGFB1) in 9 families, in which progressive diaphyseal dysplasia (Camurati-Engelmann disease) is segregating [Kinoshita et al., 2000: Nat Genetics 26:19-20]. During the study, we encountered two unrelated girls, aged 17 and 11 years, who had clinical manifestations of the disorder, such as marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip and knee joints, delayed sexual development, increased serum alkaline phosphatase levels, and increased erythrocyte sedimentation rates. Radiographic studies in the two girls demonstrated not only diaphyseal dysplasia (cortical thickening of the diaphyses) resembling that of progressive diaphyseal dysplasia but also metaphyseal expansion of the long bones, coarse and thick trabeculae of the long and short tubular bones, striations in the spinal, pelvic, and long bones, and cranial sclerosis restricted to the petromastoid regions. These radiographic changes were overall identical with those seen in hyperostosis generalisata with striations of the bones rather than those in progressive diaphyseal dysplasia. Polymerase chain reaction-direct sequencing of all exons and their flanking regions of TGFB1 did not detect any mutations. PCR-single strand conformational polymorphism analysis of the TGF-beta type 1 receptor gene (TGFBR1) did not demonstrate any aberrant DNA fragments. We concluded from these findings that the two girls we described belong to a unique entity distinct from either of the two disorders.
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PMID:Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. 1180 60

The combination of autosomal dominant, early onset Paget disease of bone (PDB) and muscular dystrophy is an unusual disorder. We recently mapped the disorder in a large family from central Illinois with PDB and proximal limb-girdle type of muscular dystrophy (LGMD), and in 3 additional families with hereditary inclusion body myopathy (HIBM), Paget disease of bone and frontotemporal dementia, to a unique locus on chromosome 9p21.1-q12. The present study describes an unrelated 10-member family with autosomal dominant PDB and a scapuloperoneal type of muscular dystrophy. Clinical, biochemical, and radiological evaluations were performed to delineate clinical features in this family. Progression of the muscular dystrophy begins with weakness in the distal muscles of the legs accompanied by foot drop. EMG and muscle biopsy are compatible with a primary dystrophy. Onset of Paget disease is early, at a mean age of 41 years, with initial distribution in the long bones and eventual infiltration of the spine and pelvis. Creatine phosphokinase (CPK) and alkaline phosphatase levels are elevated in affected individuals. Molecular analyses excluded all known loci for Paget disease of bone, scapuloperoneal muscular dystrophy (SPMD), fascioscapulohumeral muscular dystrophy (FSH), amyotrophic lateral sclerosis (ALS), Bethlem myopathy, two forms of autosomal dominant limb-girdle muscular dystrophy (LGMD), and the critical region for LGMD or HIBM/PDB on chromosome 9p21.1-q12, thus providing evidence for genetic heterogeneity among families with the unique combination of muscular dystrophy and Paget disease of bone.
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PMID:Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 1189 83

Vitamin D deficiency is extremely prevalent in the elderly. Most often the first symptoms are caused by myopathy with muscle pain, fatigue, muscular weakness and gait disturbances. More severe deficiency causes osteomalacia with deep bone pain, reduced mineralization of bone matrix and low energy fractures. Recent data also suggest that hypovitaminosis D increases the risk of cancer of the prostate, colon and breast. Thus, hypovitaminosis D is associated with many diseases associated with aging. In order to diagnose hypovitaminosis D, the assessment of serum levels of 25-hydroxy vitamin D is mandatory. Screening based on other markers like alkaline phosphatase and parathyroid hormone (PTH) will be incomplete. The treatment of hypovitaminosis D is simple with administration of combined calcium (I g) and vitamin D supplements (calciferol, at least 800 IU). Severe cases may demand initial parenteral administration of vitamin D (repeated injections of 300,000 IU 2-3 times with monthly intervals). More potent analogues are rarely needed. One should aim at achieving S-25(OH)D values in the range 50-100 nmol/l.
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PMID:Vitamin D deficiency and aging: implications for general health and osteoporosis. 1201 47

Rickets usually occurs in the first two years of life and in puberty since metabolic demand is increased due to rapid growth in these two critical periods of life, when peak bone mass is achieved. Rickets remains one of the most prevalent pediatric diseases in developing countries. Although it is considered to have disappeared in developed countries, there is increasing evidence of widespread vitamin D deficiency among immigrants. There are many reports on rickets and osteomalacia in Asian infants, adolescents and pregnant women moving from India, Pakistan and Bangladesh to developed countries with a cooler climate. We describe three teenagers of Pakistani origin. Clinical presentation included limb pains, muscular weakness, knock-knees and seizures. In all three patients, biochemical findings included hypocalcemia, raised serum parathormone and alkaline phosphatase, and reduced 25-hydroxy vitamin D concentrations. After vitamin D treatment and dietary counseling, biochemical findings returned to normal and their symptoms improved. Given the recent increase in the number of immigrants to Spain, this forgotten disease will probably reappear.
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PMID:[Rickets in Asian immigrants during puberty]. 1219 51


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