Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to M Anakura.
Explore the source record for details and available documents.
Twenty six infants and children with acute encephalitis and encephalopathy during two influenza seasons in Hokkaido, the northernmost island of Japan, were reported. Thirteen patients died and 5 had residual neurological sequelae. Influenza virus genome was detected by PCR in 9 out of 10 cerebrospinal fluid samples from these patients. CT and MRI of the brain demonstrated symmetrical changes in the thalamus and brainstem. The prevalence of these encephalitis and encephalopathy of childhood should be surveyed by nationwide scale.
A childhood case of myelodysplastic syndrome (MDS) with a deletion of the long arm of chromosome 5 (5q-) is reported. The patient was an 8 year old boy who has recurrent angina. Laboratory evaluation revealed the following: hemoglobin 8.1 gm/dl, white blood cell count 4.9 x 10(3)/l with 3% atypical lymphocytes, and platelet count 17.7 x 10(4)/l. A bone marrow aspirate revealed 20% blast cells and dysmyelopoietic changes involving all three marrow cell lines. Karyotype analysis of marrow cells revealed 46,XY,5q- in 100% of the metaphases. These findings led to a diagnosis of MDS with 5q-, which is most commonly found in adult MDS. This case seems to represent an exceedingly rare childhood case of MDS with 5q-.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
This study was performed to investigate 1) technical modification of Guthrie method for mass screening to detect histidinemia, 2) patients with histidinemia in view of genetic and biochemical aspects, and 3) therapy of histidinemia in newborn infants. Guthrie method was the useful method for mass screening of histidinemia in newborn infants. It is possible to measure blood level of histidine using by Subutilis spore ATTCC 6633 instead of ATCC 6051. Mass screening of histidinemia was done in about 20,000 newborn infants in Hokkaido, and one case of histidinemia, which was first case in Japan found by this method, was observed. In a case of 5 year-old boy with clinical histidinemia, in whom serum histidine level was 12.1 mg/kl, histidase activity of stratum corneum was not detectable, FIGLU and urocanic acid in urine and urocanic acid in sweat were not detected, the half life of histidine at intravenous histidine loading test was too long to measure. But in other case of 13 year-old boy without clinical signs of histidinemia, elder brother of former case, serum histidine level was 4.7 mg/dl, histidase activity was 11% of normal control, excretion of FIGLU and urocanic acid in urine, and urocanic acid in sweat were observed, and the half life of histidine was 5 hours and 50 minutes (normal: 2 hours and 20 minutes). In both cases, Tryptophan absorption and metabolism were not influenced by high level of blood histidine. Therapy with low histidine milk was made in 3 cases of affected infants. When histidine was given orally in dose of 30-35 mg/kg/day, serum histidine level was down to 3-5 mg/dl in a week in all cases, but in one case low proteinemia an anemia were observed. When histidine was orally given in a dose of 40-50 mg/kg/day, serum histidine level was well controlled. In all cases with histidine limited diets, mental retardation and growth retardation were not found.
Diseases which manifest with the respiratory distress in the newborn include 1) respiratory diseases-IRDS, type II RDS, neonatal asphyxia, and MAS etc. 2) anemia, CHD 3) CNS and 4) metabolic diseases. Among these, IRDS has high mortality rate because of the lack of the pulmonary surfactant and immaturity of respiratory center, and has many difficult problems in terms of its prevention and respiratory management. The points of its respiratory management are as follows: 1) Estimation of the level of arterial oxygen ation-this is the most important point. It has become possible, these days, to monitor continuous oxygenation using a transcutaneous oxygen electrode. 2) Knowledge of the physiology & management of apnea, and monitoring of heart rate and respiration. 3) Correction of acidosis & anemia and the nutritional supply by the intraveonous fluid administration. 4) Airway maintenance. 5) Oxygen administration to main PaO2 or tc PO2 of 60--80 mmHg. 6) Artificial ventilation by CPAP or IMV and 7) The specific drug therapy includes indomethacin for PDA associated with IRDS, Tolazoline for the fetal circulation syndrome, and Xanthine derivatives for primary apnea. 8) However, improvement by exchange transfusion has been contro-versial. On the other hand, in the type II RDS which has a relatively good prognosis, the intact survival can be expected by means of the proper management of general condition and respiration. In MAS, pneumothorax, pneumomediastinum and severe asphyxia, the proper resuscitation, oxygen administration should be given according to several conditions, especially the degree of hypoxia. The peritoneal dialysis can be lifesaving in case of severe renal impairment with RD. As the respiratory distress in the newborn is very frequent in its occurrence and death rate, its proper management is expected to result in the decrease in the newborn death rate in Hokkaido (8.1--6.6 per 1,000 live births) and the increase in the survival rate without any handicap, particularly if hospitals in each Hokkaido district give the newborn medical care more intensively than at present.
I. Pharmacokinetics (1) CXM 24.4 and 31.9 mg/kg were administered by intravenous drip infusion for 4 hours. The plateau levels were obtained at 1 approximately 2 hours, the blood levels at which time were 25.6 and 33.8 micrograms/ml respectively with dose response observed. (2) The respective half-lives were as short as 49.4 and 36.2 minutes. (3) The total clearances were 74.6 and 127.2 ml/min respectively; when calculated on plateau level and infusion rate, these were 81.6 and 111.0 ml/min. These differently determined values were near each other. (4) The respective renal clearances were 157.8 and 101.9 ml/min. II. Clinical results CXM for intravenous use was administered to 21 pediatric patients, and the clinical results were good and excellent in 19 (90.5%). Excluding 2 cases with elevation of cold hemagglutination values, the efficacy rate of 94.7% (18/19 cases) was achieved. The doses administered ranged 44 approximately 100 mg/kg body weight, and this dosage level was considered enough to achieve clinical effect. With the current clinical trial we considered that although the effectiveness of this drug was proved in 3 approximately 7 day intravenous drip infusion and intravenous injection, the continued treatment with other oral antibiotic following CXM treatment would be necessary from the patients' general conditions and laboratory examination findings. No noteworthy side effects were observed in any of the patients. No abnormality was seen in biochemistry and electrolyte findings, either.
The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.
Explore the source record for details and available documents.
A 5-year old boy with intermittent sopor, severe vomiting and ataxia since 2 1/2 years old was described. During attack period the patient showed elevation of blood pyruvate and alanine and also cerebrospinal-fluid pyruvate, whereas during the time free from attack only blood pyruvate was increased. Deficiency of pyruvate decarboxylase was found in patient's leukocyte and in cultured skin fibroblasts. Addition of thiamine in assay medium did not correct the enzyme activity. Oral administration of citrate seemed to be most effective and during the treatment only a mild attack was once observed.
Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine. The mother is a heterozygous carrier, while the father and sister seem to be normal.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.