Search PubMed⌕ Search

Biomedical subjects

H Hamaguchi

Publications and source records attributed to H Hamaguchi.

At least 199 records · Page 11Linked to original sources
PubMed1990

Adult Fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma.

A 66-year-old man with kappa-light chain multiple myeloma had adult Fanconi syndrome. Renal tubular transport abnormalities consisted of renal tubular acidosis, renal glycosuria, aminoaciduria, phosphaturia and renal hypouricemia. After therapy for multiple myeloma, urinary Bence Jones protein became undetectable, and all these renal tubular abnormalities except urate wasting were corrected. Histological examination revealed electron-dense tubular and rod-like deposits in proximal tubular epithelium. This clinical observation suggests that the renal tubular transport defects were secondary to the myeloma process, possibly due to Bence Jones proteinuria.

Aged↗
PubMed1990

[Family study of primary hypercholesterolemia in school children--the Tsukuba Study].

Ninety-one children were determined to have hypercholesterolemia from a screening of 1,469 school children in the community near University of Tsukuba, and family studies of these children were performed. More than 50% of the parents participated in the study. The mean cholesterol levels of parents of hypercholesterolemic children were significantly higher than that of controls. Hypercholesterolemia in parents of hypercholesterolemic children was more frequent than that in controls. Nine families with autosomal dominant hyperlipidemia including familial hypercholesterolemia and familial combined hyperlipidemia were detected by further family studies. These results indicate that genetic factors are important as causes of hypercholesterolemia of school children and that family studies of hypercholesterolemic children is an efficient method for screening for persons with increased risk for cardiovascular diseases.

Age Factors↗
PubMed1990

[Electrophysiological studies on hydranencephaly].

Electrophysiological studies were performed on two children with hydranencephaly that was diagnosed by CT and/or magnetic resonance imaging (MRI). Case 1 was a 4-months-old boy who had no rostral tissue above the midbrain. Case 2 was a 5-years-old boy in whom CT showed the presence of the thalamus. Short latency somatosensory evoked potentials (SSEP) in both cases exhibited the absence of cortical activity (N1 and P4) with the preservation of waves of brainstem origin. However, in case 1, the wave component N0 was not observed, while N0 was seen in case 2. Thus, the N0 was component of SSEP on median nerve stimulation in children, which corresponds to N16 in adults, may originate in the thalamus.

Child, Preschool↗
PubMed1989

Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia.

The low-density lipoprotein (LDL) receptor genes from 18 unrelated Japanese heterozygotes and 1 homozygote with classical familial hypercholesterolemia were analyzed by Southern blot hybridization using fragments of the human LDL receptor cDNA as probes. Four different deletion mutations were detected among 20 mutant LDL receptor genes (20%); they were characterized by restriction mapping. None of these mutations has previously been reported in Caucasian patients with FH: three of the mutations were novel and one was similar to the deletion mutation of FH-Tonami described previously in Japanese patients. In three of the four deletion mutations, the rearrangements were related to intron 15 of the LDL receptor gene, in which many Alu sequences exist. The data suggest that a wide range of molecular heterogeneity exists even in major rearrangements resulting in deletions in the LDL receptor gene. The data also support the hypothesis that there are preferential sites within the LDL receptor gene for major rearrangements resulting in deletions. The possibility that a higher frequency of deletion mutations occurs in classical FH than previously suspected is discussed.

Blotting, Southern↗
PubMed1989

Sleep in the Down syndrome.

Polysomnographic recordings were obtained for 10 Down syndrome (DS) children (6 males and 4 females, 9 months to 7 years old) and 16 age-matched normal controls. The present study was conducted to study the sleep characteristics of DS patients of this age group. The percentage of each sleep stage, rapid eye movements (REMs)/min, time intervals between REMs(I)/min, times of awakening in the middle of sleep, body movements (BMs) and twitch movements (TMs) were studied. I/min was divided into three frequencies: I less than 1 sec, l less than or equal to I less than 2 sec and I greater than or equal to 2 sec. Two of the 10 patients showed an increase in the percentage of REM sleep. In the group aged 1 to 5 years old, the REMs/min and I/min (I less than 1 sec) values were higher than those in normal controls (p less than 0.05). Many times of awakening in the middle of sleep (greater than or equal to 5 times and/or greater than or equal to 60 min) were observed in 4 cases. The frequency of BMs in total sleep was higher than that in controls (p less than 0.01). Five of the 10 cases showed an abnormal pattern as to the frequency of BMs during each sleep stage. The frequency of TMs was less than that in controls (total sleep and stage 1, p less than 0.05; stage REM, p less than 0.01). Seven of 9 cases showed an abnormal pattern as to the frequency of TMs during each sleep stage.(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗
PubMed1989

[Lymphoepithelial cyst of the upper neck: report of a case].

A case of lymphoepithelial cyst of the upper neck is presented. The patient was a 77-year-old woman. After her lesion was extirpated under clinical diagnosis of salivary gland tumor, identified as lymphoepithelial cyst (so-called branchial cyst). Histopathologically salivary gland was observed in the cyst wall composed of lymphoid tissue and was demonstrated highly active amylase-enzyme (S type) in the cyst fluid. These findings are convicted that our case originates ductal epithelium entrapped in cervical lymph node (inclusion theory of Bhaskar).

Aged↗
PubMed1989

[Spontaneous differentiation from myeloperoxidase-negative acute nonlymphocytic leukemia to acute myelomonocytic leukemia].

We reported a 68-year-old woman with acute nonlymphocytic leukemia, in whom the leukemia transformed from poorly differentiated myeloperoxidase (MPO)-negative type into myelomonocytic type during the observation without chemotherapy. Hematological findings on admission revealed a leukocyte count of 3,500/microliters with 48% blasts and a platelet count of 9.2 x 10(4)/microliters. Bone marrow aspiration showed 68.2% infiltration of blasts negative for MPO. Sudan black B and esterase stains. By electron microscopy MPO was detected in the endoplasmic reticulum and nucleoenvelope of the blasts. Large vacuole-like granules were MPO-negative. She was observed without administration of any antileukemic agent or an immunopotentiator. The leukocyte count rose gradually, in association with increases in the relative and absolute counts of mature neutrophils and monocytic cells, and the platelet count. Twenty-six months after the initial diagnosis, a blood examination showed a leukocyte count of 74,300/microliters with 20.5% mature neutrophils and 15.5% monocytic and a platelet count of 31.4 x 10(4)/microliters. Cytological, cytochemical, ultrastructural and immunological studies of the bone marrow cells showed features compatible with acute myelomonocytic leukemia (FAB M4). This case is unusual in respect that poorly differentiated ANLL transformed spontaneously into moderately differentiated ANLL.

Aged↗
PubMed1989

[A case of congenital retinoschisis in a 34-week gestation female infant].

At age one month a female infant was referred for a fundus examination because she was delivered after a 34-week gestation and her birth weight was 1908 g. Fundus examination revealed a brown granular pigmentary deposition surrounding the foveola in the macular region and a large highly ballooning retinoschisis occupying almost the lower half of the fundus in each eye. There was slight hemorrhage in the vitreous body and the retinoschisis cavity, and no retinal hole. The anterior border of the retinoschisis did not extend to the ora serrata. The almost negative ERG response showed an abnormal b-wave amplitude. Over the course of about one year, the vitreous hemorrhage developed and cleared. The ballooning feature of the retinoschisis also developed and disappeared. On examination of the infant's family her father and elder sister had no abnormal findings but her mother had chorioretinal degeneration with macular yellow pigmentary deposition, visual defect and negative ERG. These abnormal findings of her mother were suggested to have been derived from congenital retinoschisis. Therefore, this is a very rare case because of the different hereditary form, the common sex-linked recessive inheritance, the 34-week gestation and female infant.

Female↗
PubMed1988

Effect of human recombinant interleukin 5 and G-CSF on eosinophil colony formation.

Human recombinant (r) IL-5 was shown to have the activity to stimulate eosinophil (Eo) colony formation from human non-T, non-adherent bone marrow cells. The majority of these colonies were found to contain a small number of basophils, macrophages or neutrophils. Human rG-CSF, which alone did not stimulate Eo colony formation, showed an enhancing effect on Eo colony formation when added with IL-5. IL-5 seems to stimulate the proliferation and differentiation of CFU-Eo, while G-CSF acts on the early stage of eosinophilopoiesis.

Cell Differentiation↗
PubMed1988

Interleukin 2 stimulates the T-cells from patients with eosinophilia to produce CFU-Eo growth stimulating factor.

To explore the mechanism of eosinophilopoiesis in patients with reactive eosinophilia, we studied the effect of interleukin 2 (IL-2) on the production of CSFs, especially CFU-eosinophil growth stimulating factor (CFU-Eo GSF) from T-lymphocytes in patients with reactive eosinophilia. Conditioned media (CM) prepared from patients' E rosette forming cells (ERFC) with or without IL-2 was assayed for CFU-Eo, CFU-monocyte, macrophage (CFU-M) and CFU-neutrophil (CFU-N) GSF. The addition of IL-2 to the ERFC significantly stimulated the production of CFU-Eo and CFU-M GSF while only CFU-M GSF increased in normals. Serial testing of the CFU-Eo GSF in ERFC-CM demonstrated that the ability of ERFC to produce CFU-Eo GSF with IL-2 stimulation was retained even when the eosinophilia had disappeared. These results suggest that CFU-Eo GSF is produced from T-cells with IL-2 stimulation and that the T-cells from patients produce IL-2 stimulation and that the T-cells from patients produce CFU-Eo GSF with IL-2 stimulation after the disappearance of eosinophilia.

Colony-Forming Units Assay↗
PubMed1988

Heterogeneity of in vitro growth pattern of megakaryocyte progenitors (CFU-M) in myeloproliferative disorders.

In groups of 26 patients with myeloproliferative disorders (MPD), 8 with chronic myelogenous leukaemia (CML); 8 with polycythaemia vera (PV); 10 with essential thrombocythaemia (ET); and 6 patients with reactive thrombocytosis (RT), we studied the growth characteristics of bone marrow CFU-M in agar culture. The bone marrows from all the patients with MPD formed so called endogenous CFU-M colonies, in the absence of PHA-LCM, that increased in a dose-dependent manner with the addition of increasing concentrations of normal human AB-citrated plasma (NH-ABCP), while the bone marrows from all the patients with RT and from healthy controls formed few or no endogenous CFU-M colonies. In MPD, the endogenous CFU-M growth was enhanced by normal T cells in a dose-dependent fashion, and was decreased with the depletion of T cells from the marrow cells. These results suggest that the formation of endogenous CFU-M colonies is caused by hypersensitivity of CFU-M in MPD to NH-ABCP, which may contain a small amount of Meg-CSF, and/or by in vitro T cell stimulation. Among MPD, the endogenous CFU-M growth in ET was significantly lower than that of other MPD patients; however, the total number of ET CFU-M grown in the presence of PHA-LCM was the highest. These data show that the bone marrow CFU-M in MPD are heterogeneous with respect to in vitro growth pattern or sensitivity to exogenous Meg-CSF.

Clone Cells↗
PubMed1987

Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan.

The fragile X [fra(X)] syndrome was screened on 190 Japanese institutionalized females with moderate to severe mental retardation. Two inmates with severe mental retardation (IQ 20) had the fra(X) chromosome in 26% and 15% of the cells examined, indicating that the prevalence of the fra(X) syndrome was about 1% in all female inmates and was about 3.27% in severely mentally retarded females without known causes. However, no female with fra(X) syndrome was found in 35 moderately retarded females. Both had brothers with the fra(X) syndrome and the prevalence was 10% in females with a family history of mental retardation. In addition, the replication study of the fra(X) chromosome in the patients supported the proposal that an excess of the early replicated fra(X) chromosome is related to the mental capacity in heterozygous females. Therefore, the fra(X) syndrome should not be ignored even in severely mentally retarded females with a family history, though the heterozygotes are commonly normal to subnormal in their mental development. In addition, the replication study of the fra(X) chromosome may help to estimate mental development in the carrier children.

Adolescent↗
PubMed1987

A fragile X female with Down syndrome.

Clinical and cytogenetic aspects of a female infant with trisomy 21 and the fragile X [fra(X)] chromosome are reported. Most of the facial characteristics of the patient are those observed in Down syndrome, but some features such as long face with prominent forehead and lower jaw, and large ears are related to the fra(X) syndrome. The origin of an additional chromosome 21 may be ascribed to maternal first meiotic nondisjunction in our case. It has been suspected that female carriers of the fra(X) chromosome may be predisposed to meiotic nondisjunctional events. However, there is probably no relationship between the two chromosomal abnormalities in our case because of the maternal age at the delivery.

Adult↗