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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 6-year-old girl is described who has congenital megaloblastic anemia which completely responded only to pharmacologic doses of thiamine. Relapse was observed twice when the drug was discontinued. The reintroduction of thiamine caused a prompt reticulocytosis and a rise in hemoglobin concentration. Other abnormalities included latent diabetes mellitus, sensorineural deafness, and "situs inversus totalis." Her parents are first cousins, both with partial deafness. Her father has an abnormal oral glucose tolerance test. A single similar case has been reported; the combination of almost the same anomalies seems to represent a newly recognized syndrome. This case reinforces the proposal that thiamine has a role in hematopoesis.
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PMID:Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome? 67 Nov 56

A 9-year study of thiamine metabolism and cellular transport was performed in two patients with thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness, in their relatives, and in age-matched controls from the same area. The ratios between the content of thiamine and that of its phosphoesters in erythrocytes were within the normal range, whereas the absolute values of thiamine and thiamine compounds were reduced by about 40% as compared to controls. Thiamine pyrophosphokinase activity was about 30% lower than in controls. Thiamine treatment restored the levels of thiamine and thiamine compounds to normal values, whereas kinase was unaffected. Both the saturable (specific, predominant at low, less than 2 mumol/L, physiological concentrations of thiamine) and the non-saturable component of thiamine transport were investigated. Erythrocytes and ghosts from patients exhibited no saturable component, this abnormality being specific for the patients and not shared by their parents. It is concluded that the cells from thiamine-responsive megaloblastic anaemia patients contain low levels of thiamine compounds, probably due to their inability to take up and retain physiological concentrations of thiamine, as a result of the lack of the saturable, specific component of transport and reduced thiamine pyrophosphokinase.
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PMID:Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia. 132 79

Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient and normal in the other; in both children, thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity were lower than the lowest values observed in control subjects. A month after institution of treatment with thiamine, the hematologic findings had returned to normal and the insulin requirements had decreased. Withdrawal of thiamine repeatedly induced relapse of the anemia and an increase in insulin requirements. We propose that an inherited abnormality of thiamine metabolism is responsible for the multisystem degenerative disorder known as DIDMOAD syndrome.
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PMID:Thiamine-responsive anemia in DIDMOAD syndrome. 280 20

We have investigated thiamine metabolism and transport in the erythrocytes of two patients from unrelated families with thiamine responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness. Both patients had low concentrations of thiamine compounds in plasma and red blood cells. When erythrocytes were incubated with thiazole-[2-14C]-thiamine or [35S]-thiamine in vitro, the concentration of label within the cells was markedly reduced compared with controls. In addition, thiamine pyrophosphokinase activity was deficient in haemolysates prepared from the patients. Some relatives of the patients showed abnormal parameters of thiamine status and transport. In both patients treatment with a lipophilic compound corrected the haematological abnormalities and diabetes and in one patient has so far prevented the progression of deafness. We propose that the disorder is caused by an inherited defect of thiamine transport, possibly related to deficient pyrophosphokinase activity, leading to intracellular depletion of active thiamine metabolite derivatives.
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PMID:Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia. 254 4

The present communication reports preliminary findings of haematological investigations carried out on patients attending an oral medicine clinic in the University of Iceland over a two year period. Patients have been referred to this newly-established clinic with candidosis, aphtous ulceration, sore tongues, burning mouth syndrome and other miscellaneous conditions. Many were investigated for underlying causes for their oral disorder. A high proportion of patients (33/45: 73%) referred for haematological investigation had abnormal findings largely related to a deficiency of iron (21/45: 47%). Most of these reported improvement in their oral discomfort after a course of iron tablets. Only two patients had abnormally reduced erythrocyte counts but a further 19 (42%) were found to have sideropaenia. Diabetes was diagnosed in two patients and one previously unknown case of megaloblastic anaemia was also discovered. The results were sufficiently encouraging to warrant continuing the clinic and collection of further data.
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PMID:[Haematological investigation of patients attending an oral medicine clinic in the Dental Faculty, University of Iceland, 1987-1988]. 263 50

Three different inherited disorders are known in which thiamine may exert a beneficial effect: maple syrup urine disease (MSUD), lactic acidaemia and the syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus. The amounts of thiamine which were used for long-term treatment varied from 20 to 2400 mg day-1. Additional treatment, such as the reduction of dietary branched chain amino acids in MSUD, could not be omitted in some cases. It has been shown that the vitamin improves the stability of the branched chain ketoacid decarboxylase, although some weeks may be needed to observe the in vivo effect of treatment. A prolonged trial with high doses of thiamine should always be given.
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PMID:Thiamine-responsive inborn errors of metabolism. 393 Aug 44

Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness are reported. Two had, in addition, congenital septal defects. The activities of thiamine-dependent enzymes were determined in one patient, revealing low alpha-ketoglutarate dehydrogenase activity, which could have caused a sideroblastic anemia with secondary megaloblastic changes. The anemia was thiamine dependent. The cause of the diabetes mellitus was not known, but it was not type 1.
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PMID:Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. 404 2

A brother and sister of Pakistani origin suffered from sensorineural deafness, diabetes mellitus and a macrocytic anaemia. Their bone marrows showed megaloblastic erythropoiesis and contained many ringed sideroblasts. Electron microscope studies of the bone marrow revealed (1) iron-laden mitochondria in many erythroblasts, (2) non-specific abnormalities indicative of dyserythropoiesis in some erythroblasts, and (3) evidence of ineffective erythropoiesis. The deoxyuridine suppression test indicated that the megaloblastic changes were not caused by an impairment of the methylation of deoxyuridylate. Studies of nucleic acid synthesis in the bone marrow cells showed that the rate of incorporation of [3H]thymidine into DNA was increased and that the rates of incorporation of [14C]glycine and [14C]adenine into both DNA and RNA were essentially within the normal range. The anaemia did not respond to therapy with hydroxocobalamin, folic acid or pyridoxine but responded to 25 mg thiamine, daily, by mouth. In one of the cases a post-thiamine marrow aspirate showed a considerable improvement in both the megaloblastic and sideroblastic changes.
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PMID:Thiamine responsive anaemia: a study of two further cases. 617 36

In normal subjects, mean platelet volume (MPV) has an inverse, nonlinear relation with platelet count, while platelet volume heterogeneity has a direct, nonlinear relation with MPV. Compared with the reference range established for normal subjects, patients with chronic lymphocytic leukemia, atherosclerotic heart disease, diabetes mellitus, and chronic undifferentiated schizophrenia had normal platelet volume mean and heterogeneity. Patients treated with cytotoxic chemotherapy for acute nonlymphocytic leukemia, patients with megaloblastic anemia, and patients with aplastic anemia had abnormally small platelets with increased heterogeneity. Patients with chronic myelogenous leukemia had abnormally large platelets with increased heterogeneity.
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PMID:Platelet size in health and hematologic disease. 695 50

This study analyzes the obstetric cases seen by 1 consultant firm at the Riyadh Military Hospital in Saudi Arabia between December 4, 1978-July 1, 1979. Of 487 patients referred to the booking clinic by primary care physicians, only 384 patients attended. Many patients were advanced in pregnancy when seen in the primary care department and were seen by the obstetricians only when admitted to the labor floor. A retrospective analysis of the notes was made and the results assessed of those patients under the care of 1 consultant firm. Patients attending the antenatal clinic underwent the routine investigations and clerking procedures. Iron deficient anemia was rarely seen (2.6%), and the need for iron or vitamin replacements was based on hematological indices. Megaloblastic anemia was detected in only 1 case. Very few abnormal hemoglobinopathies (1.6%) were found. Diabetes and rheumatic and congenital cardiac disease were occasionally seen. Grand multiparity was common, although very few problems arose. The incidence of mild preeclampsia was 2.6%, compared with 20-30% for the U.K. It was rarely necessary to resort to surgical induction for suspected post-maturity. The incidence of preterm infants was between 4.7-5%. Salbutamol was used in the obstetric unit, being the only available beta-adrenergic agonist for the suppression of uterine activity. Patients were not adverse to taking tablets during pregnancy, but they were aware that drugs can reach the baby through the mother's milk. There was no major problem with the predominantly male medical staff. Contraception was freely discussed in the clinics and wards. Patients in higher social classes found it fully acceptable, but those in lower classes always insisted on discussions with the male partner and rarely was it accepted. Hospital delivery was acceptable to many patients, yet others gave birth at home and were ignorant of the hospital facilities available. A reasonable perinatal mortality rate is reported (15/1000) but the study does not consider those patients not attending the new hospital for delivery.
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PMID:Initial findings in a new obstetric unit in Saudi Arabia. 708 Jan 67


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