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Biomedical subjects

S Kamoshita

Publications and source records attributed to S Kamoshita.

At least 19 recordsLinked to original sources
PubMed1992

Acute tubulointerstitial nephritis with uveitis syndrome presenting as multiple tubular dysfunction including Fanconi's syndrome.

We describe an 11-year-old male patient with acute tubulointerstitial nephritis with uveitis (TINU) syndrome. He presented with easy fatigability, pallor, nocturia and weight loss. Laboratory examination disclosed anaemia, polyclonal hypergammaglobulinaemia, low molecular weight proteinuria, glycosuria, aminoaciduria, proximal and distal renal tubular acidosis, a urine concentration defect and decreased creatinine clearance. The multiple renal tubular dysfunction and slight glomerular dysfunction subsided spontaneously. Bilateral anterior uveitis was manifested 7 months after the onset of the disease. This is the first reported case of TINU syndrome with multiple proximal and distal tubular dysfunction including a complete type of Fanconi's syndrome.

Acidosis, Renal Tubular↗
PubMed1992

Transient neonatal distal renal tubular acidosis with secondary hyperparathyroidism.

We describe a neonate with distal renal tubular acidosis with secondary hyperparathyroidism manifesting as hyperchloraemia, hypercalcaemia, elevated serum parathyroid hormone (PTH) and life-threatening metabolic acidosis. He exhibited general weakness, tachypnoea, dry skin and weight loss. Urinary excretion of titratable acid and ammonium was decreased. Daily alkali (2.5 mEq/kg body weight) was required to maintain a normal plasma bicarbonate (HCO3-). With alkali therapy, the fractional excretion of HCO3- was below 5%. Serum calcium and PTH were restored to normal promptly on initiation of alkali therapy. After 5 months of alkali therapy, normal growth and urine acidifying ability were restored and alkali therapy was discontinued. The acidification defect in this patient was transient. We consider this patient to be consistent with Lightwood's syndrome of "transient infantile renal tubular acidosis".

Acidosis, Renal Tubular↗
PubMed1992

Carrier detection in agammaglobulinemia by X chromosome inactivation analysis.

Using a recently developed strategy to analyze patterns of X chromosome inactivation in cell populations, we found that two mothers and a sister were carriers in three atypical or sporadic cases of patients with agammaglobulinemia, two of whom were brothers. In this study, a phosphoglycerate kinase 1 (PGK1) gene probe was used to detect patterns of methylation of X-chromosome genes. A random pattern of X inactivation was observed in isolated peripheral blood granulocytes. In contrast, one of the two X chromosomes was preferentially active in the Epstein-Barr virus (EBV)-transformed peripheral B cells of the family members of these patients. The volume of the blood specimen could be significantly reduced using EBV-transformed B cell lines which contained multiple clones. The analysis described here can be used to distinguish between X-linked agammaglobulinemia (XLA) and other forms of a- or hypo-gammaglobulinemia as well as to detect the carrier state.

Adolescent↗
PubMed1992

Clinical experience in using a new type of nasal prong for administration of N-CPAP.

Nasal continuous positive airway pressure (N-CPAP) has been used in infants with decreased lung compliance for increasing the functional residual capacity (FRC), decreasing the work of breathing and improving the PaO2/PAO2 (arterial-alveolar PO2 ratio) without intubation. However, the currently available nasal prongs for administration of N-CPAP have presented some problems in fixation, and lesions to the nasal septum or nostrils might be induced by aggressive pressure intended to fix them. We would therefore like to report our experience in using a new type of nasal prong for administration of N-CPAP therapy. The nasal prongs we used were provided by Dr. Wung of Columbia University in New York, who first designed them, and have been used safely, effectively and without any complications.

Apnea↗
PubMed1992

Partition of free dolichol in human urine.

We have demonstrated that dolichol is present in the urinary supernatant. Most of the dolichol present in the supernatant seems to be associated with cellular debris or membrane fragments. The amount of sediment in healthy subjects correlate well with the volume of urine. Although it is illogical to express urinary dolichol relative to urine volume, a good correlation between the amount of sediment and urine volume has made its use justifiable. Because of the presence of a substantial amount of dolichol in the supernatant, it seems better to use uncentrifuged whole urine as the sample for measurement of dolichol.

Adult↗
PubMed1992

[Cystinosis].

Recent progress of the study of the pathogenesis, diagnosis, and treatment of a lysosomal transport disorder, cystinosis is reviewed. Cystinosis is an autosomal recessively inherited disease that is caused by the accumulation of cystine in lysosome due to lack of the cystine transport system in lysosome. Renal transplantation has been a successful treatment for the cystinosis patients who are in the end stage renal failure, and this therapy has markedly prolonged the life span of cystinosis patients. Recently, oral cysteamine therapy has been successful in the excretion of accumulated cystine in cystinosis patients, and in improving the symptoms. Studies are now under way to see if early (within a month of life) start of cysteamine therapy would achieve the most satisfactory therapeutic effect and maintain normal renal function.

Administration, Oral↗
PubMed1991

Mass screening in Japan increased the detection of infants with neuroblastoma without a decrease in cases in older children.

Analysis of data from the Kanto-Ko-Shin-Etsu Branch of the Japan Children's Cancer Registry revealed that mass screening for neuroblastoma increased the detection of cases in infants younger than 1 year from about 25% before screening to about 50%, and the percentage of neuroblastomas among all pediatric cancers almost doubled, from approximately 10% to 19.3%. However, when the cases found on screening were subtracted, the numbers after the onset of mass screening were similar to those before screening. It is likely that neuroblastoma mass screening has identified a unique type of tumor, which may not be recognized without mass screening, rather than that it has contributed to the earlier diagnosis of tumors in older children.

Age Factors↗
PubMed1991

Age-associated changes in the symptomatology of Guillain-Barré syndrome in children.

The medical records were reviewed of 83 children with Guillain-Barré syndrome, with reference to the age-associated changes found in the initial symptoms, the intervals between the preceding illness and the onset of disease, and the patterns of affected cranial nerves. A close correlation was observed between cranial nerve involvement and respiratory complications. The findings suggest the involvement of nervous system maturation in the clinical manifestations of Guillain-Barré syndrome in children.

Adolescent↗
PubMed1991

Renal cyst formation as a complication of primary distal renal tubular acidosis.

Morphologic studies using renal sonography and CT scanning were performed in 6 patients with primary distal renal tubular acidosis who were followed for 6 to 18 years. Nephrocalcinosis and renal cysts were identified in all patients. Multiple bilateral renal cysts were detected in 3 patients, and unilateral single or several renal cysts were detected in 3 patients. Size and number of the renal cysts in 1 patient did not change over 5 years of alkali therapy. Although the precise mechanism for renal cyst formation has not yet been established, renal cysts may be a common complication of primary distal renal tubular acidosis.

Acidosis, Renal Tubular↗
PubMed1990

Reversible low-molecular-weight proteinuria in patients with distal renal tubular acidosis.

Four patients with untreated renal tubular acidosis had a urinary excretion of low-molecular-weight (LMW) proteins which was restored to normal by alkali therapy. Hypokalaemic proximal tubular damage in untreated patients with distal renal tubular acidosis is believed to be the cause of LMW proteinuria. An examination of urinary excretion of LMW proteins is useful for determining hypokalaemic proximal tubular dysfunction, as well as the efficiency of alkali therapy.

Acetylglucosaminidase↗
PubMed1990

Multi-institutional survey of the Rett syndrome in Japan.

The results of the first multi-institutional survey of the Rett syndrome in Japan are reported. The survey was performed during 1985 and 1986. Eighty-nine cases were collected, of which 54 cases were confirmed to have the Rett syndrome. The ages of the patients ranged between 1 and 26 years. The clinical onsets occurred after 18 months of age in 28 cases, and before the age of one year in 26. No familial cases nor consanguinity was found. The incidence of perinatal abnormalities among the patients was not significantly higher than in other diseases in which no perinatal factors are involved.

Adult↗
PubMed1990

Multi-institutional survey of the Aicardi syndrome in Japan.

The first multi-institutional survey of the Aicardi syndrome in Japan was performed during 1985 and 1986. Among the 20 collected cases, 9 fulfilled the typical clinical triad; infantile spasms, agenesis of the corpus callosum and chorioretinal lacuna. Three cases had agenesis of corpus callosum and chorioretinal lacuna. Five cases had agenesis of the corpus callosum and infantile spasms. We classified 12 cases with both agenesis of the corpus callosum and a lacuna as typical cases, and the remaining 8 cases as atypical cases. No familial cases were found among either the typical or atypical cases. The presence of the vertebral anomalies or other anomalies in the atypical cases, which were frequently observed in the typical cases, suggested that unknown common processes were affected in both the typical and atypical groups.

Agenesis of Corpus Callosum↗
PubMed1990

Screening measures for detecting psychiatric disorders in Japanese secondary school children.

Measurement characteristics of screening measures (Rutter's teachers' and parents' questionnaires) were explored with some Japanese secondary school children. The characteristics included stability, cut-off points, factor analyses and agreements between questionnaire diagnoses and interviewer's judgement concerning types of disorder. These measures were used in combination and checked in terms of measurement characteristics. Age trends in the obtained results were described using 12-13-yr-old and 14-15-yr-old children. Results suggested that the cut-offs were age-dependent, regardless of the questionnaire type.

Adolescent↗
PubMed1990

Carrier detection of partial hypoxanthine-guanine phosphoribosyltransferase deficiency by analysis with BamHI restriction fragment length polymorphisms and oligonucleotide probes.

Hyperuricemic nephropathy can progress to the permanent renal damage even in infancy in partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. We have encountered two unrelated patients with partial HPRT deficiency, and found that early detection of the disease and long-term management for hyperuricemia were necessary to prevent renal impairment. The HPRT gene is situated in the q26-27 region of the long arm of the X-chromosome, and females with mutant HPRT alleles are heterozygous for the disease, and they develop gout after menopause. We undertook the investigation of carriers in the two patients' families, using BamHI restriction fragment length polymorphisms and oligonucleotide probes that recognized the specific mutations within the HPRT gene. We also demonstrated that the allele frequencies of BamHI restriction fragment length polymorphisms in 62 Japanese females were 0.36 for the 22-kb/25-kb allele, 0.41 for the 12-kb/25-kb allele, and 0.23 for the 22-kb/18-kb allele, resulting in a heterozygous state in 66% of females.

Base Sequence↗
PubMed1990

Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease).

A Japanese female, floppy since birth, died at the age of 1 year and 10 months. Fasciculation of the tongue, neurogenic patterns on an electromyograph, and an empty posterior fossa on a cranial computerized tomogram suggested a motor neuron disorder resembling Werdnig-Hoffmann disease with cerebellar hypoplasia. Autopsy revealed a very small cerebellum and brain stem. The cerebellar cortex showed thin molecular and granular layers with total absence of Purkinje cells. Degeneration of the motor neurons with central chromatolysis, a change typical of Werdnig-Hoffmann disease, was noted throughout the anterior horn of the spinal cord as well as in the motor nuclei of the brain stem. The clinical features and pathological findings of this case were almost identical with those first detected and described by Norman in 1961. Six similar autopsy cases have been reported since the original description. In addition to pontocerebellar hypoplasia, the presence of severe mental retardation and a probable autosomal recessive inheritance make the disease a distinct entity, which we have called Norman's disease.

Abnormalities, Multiple↗