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Biomedical subjects

Z Suzuki

Publications and source records attributed to Z Suzuki.

At least 19 recordsLinked to original sources

[Beta(+)-thalassemia (-31CapA-->G) homozygosity discovered on the mass medical examination: diagnosis for beta-thalassemia and DNA analysis].

A 44-year-old Japanese male showed a high value of HbF (14.3%) in an assay of glycated Hb (HbA1c) by use of HLC-723GHb II system. The proband was asymptomatic although he was found to be anemic ten years ago. The hematological examination revealed microcytosis, hypochromia and slight reticulocytosis (3.7%). Serum iron level was high (245 g/dl). Blood smear revealed aniso-poikilocytosis with scattered target cells. Hb analysis showed a remarkable increase of HbA2 (8.6%) as well as the high HbF cited above, but no abnormal Hb was detected. The beta/alpha ratio of globin biosynthesis in reticulocytes was decreased to 0.25. DNA sequencing of the beta-globin gene disclosed that the proband was homozygous for beta (+)-thalassemia mutation-31CapA-->G. This mutation was linked to A gamma T gene and haplotype -(-)+2(-)+2-. His parents and two daughters were heterozygous for the mutation. They were anemic and had increased HbA2 levels of 4.36-5.43%. The beta/alpha ratios of globin biosynthesis were 0.61-0.81.

Adult↗

Autoantibody selectively inhibits binding of von Willebrand factor to glycoprotein ib. Recognition site is located in the A1 loop of von Willebrand factor.

A 20-year-old man with severe von Willebrand disease recently presented a progressive bleeding tendency, characterized recurrent subcutaneous hemorrhages and cerebral hemorrhage. Mixing and infusion studies suggested the presence of an inhibitor directed against vWF:RCo activity of von Willebrand factor (vWF) without significant inhibition of the FVIII:C. The inhibitor was identified as an antibody of IgG class. The inhibitor inhibited the interaction of vWF in the presence of ristocetin and that of asialo-vWF with GPIb while it partially blocked botrocetin-mediated interaction of vWF to GPIb. The inhibitor reacted with native vWF, the 39/34 kDa fragment (amino acids [aa] 480/ 481-718) and the recombinant vWF fragment (MalE-rvWF508-704), but not with Fragment III-T2 (heavy chains, aa 273-511; light chains, aa 674-728). A synthetic peptide (aa 514-542) did not inhibit vWF-inhibitor complex formation. We conclude that this is the first auto-antibody of class IgG from human origin that recognizes the sequence in the A1 loop of vWF, resulting in a virtual absence of functional vWF and a concomitant severe bleeding tendency although recognition site is different from the residues 514-542 which is crucial for vWF-GPIb interaction.

Adult↗

[A case of malignant hemangioendothelioma effectively treated with intra-arterial continuous infusion of interleukin-2].

An 82-year-old female presented with a tumor in the right-frontal region and was diagnosed as MHE, based on the clinical and pathological findings. Increased LAK (lymphokine-activated killer cell) activity was observed during treatment with intraarterial continuous infusion of rIL-2. In addition, the decrease in tumor size was started when LAK activity became high. Treatments for MHE and mechanism of these therapies were discussed using data from this case and other authors' reports.

Aged↗

[Electron microscopic and immunohistological studies of a case of Ehlers-Danlos syndrome type IV].

A 5-year-old male considered clinically to have Ehlers-Danlos syndrome (EDS) type IV with main symptoms of fragility and easy bruisability of the skin was presented. Electron microscopic observations of collagen fibers and immunohistological examination of the localization of the type III collagen in the patient revealed dissimilarities in the size and the irregularities in the shape of collagen filaments, as well as a clear difference in localization of type III collagen when compared with normal skin of same age.

Child, Preschool↗

[Preventive medicine of adult T-cell leukaemia].

Preventive medicine of adult T cell leukemia (ATL) was discussed from four points of view, namely (1) seroepidemiology, (2) clinical laboratory findings of HTLV-I seropositive and seronegative groups in comparison with those of ATL patients, (3) relationship between genetic polymorphisms of 4 serum proteins and HTLV-I infection/development of ATL and (4) detection of antibodies to HTLV-I in pregnant women and prevention of its mother to child transmission.

Adult↗

Adult T-cell leukemia by probable horizontal transmission from husband to wife.

A 60-year-old housewife was affected with adult T-cell leukemia (ATL) 10 years after her husband died of T-cell lymphoma, which was retrospectively diagnosed as ATL. She had never had a blood transfusion nor any indication of infection by human T-cell lymphotropic virus type I (HTLV-I) from her parents. The report suggested the wife to have developed ATL by horizontal transmission of HTLV-I from her husband 31 years after their marriage.

Deltaretrovirus Infections↗

Serial studies in von Willebrand's disease: variability versus "variants".

The variability of laboratory findings in von Willebrand's disease (vWd) was evaluated by performing serial studies of bleeding time (BT), factor VIII coagulant activity (VIII:C), factor-VIII-related antigen (VIIIR:Ag) and ristocetin cofactor (VIIIR:Rcof) in 50 individuals from 25 families with this disorder. The types of results were characterized from 1 to 16 based on the possible combinations of findings using these four tests. The only patients observed to have consistently abnormal results of all four tests were three individuals with homozygous vWd. Individuals with autosomal dominant vWd were found to have a variety of results and all 16 possible types were observed. Although a consistent pattern was present within some families, others with equivalent history of bleeding demonstrated widely variable types of results. The results within some families, others with equivalent history of bleeding demonstrated widely variable types of results. The results of serial studies of the same tests in 10 normal individuals indicated relative stability, with nearly all values within the usual range of normal, but some independent variation of factor-VIII-related activities was observed. These studies indicate that: (1) the results of BT, VIII:C, VIIIR:Ag, and VIIIR:Rcof vary considerably from time to time in many individuals with vWd, (2) a classification of "variants" of vWd based solely on such studies may be inappropriate, particularly if the tests are not repeated, and (3) repeated testing may be required to establish the diagnosis of vWd in some individuals.

Bleeding Time↗