Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prolactin levels were measured in 84 patients aged 20 years with hypogonadism, both under baseline conditions and after stimulation with TRH. In those with impuberty from delayed puberty or gonadotropin insufficiency, baseline blood prolactin levels were normal but the response after stimulation was reduced in a significant manner. In patients with Klinefelter's syndrome, both baseline and reserve blood prolactin levels were increased. No correlation was observed between these abnormal levels and the usual clinical and biological disturbances found in this disorder (gynaecomastia, diabetes, hyperinsulinism, changes in 5-alpha-reduction). The significance of this hyperprolactinaemia remains obscure.
 ...
PMID:[Blood prolactin levels in male hypogonadism (author's transl)]. 12 17

A peculiar involvement of the interphalangeal joints of both hands with palmar flexion of the fingers has been observed in 11 insulin-treated, nonrheumatoid, juvenile diabetics. The onset of diabetes occurred between 1 and 12 years of age. Painless deformities of the fingers with progressive stiffness and impaired extension started 4 to 10 years later. One patient complained of articular pain and swelling. X-ray and circulatory changes were absent or minimal. Prepubertal patients showed delayed puberty and stunted growth, adult patients had normal sexual development. Rheumatic or rheumatoid signs were absent. Electromyography showed minor abnormalities of the motor units, normal or subnormal motor nerve conduction velocity, increased median nerve terminal latency, in the absence of muscular atrophy or thickening of palmar tendons. Vibratory sensitivity was impaired in 1 subject. Juvenile cheiroarthropathy is associated with: a) early onset and poor control of diabetes; b) stunted growth; c) hepatomegaly; d) delayed puberty; e) long standing administration of insulin. The articular changes are distinct from previously known forms of "diabetic hand", such as atrophic neuropathy, osteoarthropathy, Dupuytren's contracture, carpal tunnel syndrome.
 ...
PMID:Juvenile diabetic cheiroarthropathy. 97 70

We investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin-resistant diabetes mellitus (non-insulin-dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin-stimulated RNA synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a preclinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer.
 ...
PMID:Autosomal dominant insulin resistance syndrome due to postbinding defect. 128 80

Iron-chelating treatment is indicated in all children on prolonged transfusion therapy (i.e., chiefly patients with thalassemia and Blackfan-Diamond anemia). The purpose of iron-chelating treatment is to prevent the development of manifestations of iron overload including cardiac hemosiderosis and insulin-dependent diabetes mellitus (which are two potentially fatal complications), hepatic cirrhosis, hypoparathyroidism, hypothyroidism, and delayed puberty. Deferoxamine is the only effective iron-chelating agent and should be given in a daily dose of 40 mg/kg at initiation of the transfusion program. Administration is by subcutaneous infusions from 8 to 10 hours per day. The goal of iron-chelating treatment is to maintain serum ferritin levels between 500 and 1,000 ng/ml. This long-term treatment is a significant burden for patients and it can be hoped that non-toxic iron-chelating agents, active by mouth, will become available.
 ...
PMID:[Iron chelation in children]. 268 51

Iron chelation therapy must be associated with the regular blood transfusions required for thalassaemia and other chronic anemias. We report here a study concerning 4 groups of patients, aged 6 to 28, regularly transfused at Necker Enfants-Malades hospital: a) 20 with thalassaemia major; b) 6 with thalassaemia intermedia; c) 2 with sickle cell disease and d) 2 with Blackfan-Diamond syndrome. The transfusion regimen consisting of monthly or quarterly transfusions varied as a function of the groups. Desferal was used in all patients. The dosage and the route of administration (IV, IM, SC) were adapted to the amount of iron transfused and to the nature of the disease. The serum ferritin level was considered as the indicator of the iron overload. Comparisons were established between the quantities of iron transfused, ferritin levels, and parameters such as dosage, route of administration and compliance to Desferal. During the period of study 3 patients died from cardiac failure due to transfusional hemosiderosis. Endocrine complications (diabetes 2 cases, hypocalcemia 3 cases, hypothyroidism 1 case and delayed puberty 7 cases) were observed. This high incidence of complications induced by post-transfusional iron overload has recently prompted us to improve the quality of chelation therapy through the use of the services of a specialized center where patients as well as their families can be trained more adequately in home care and self-treatment.
 ...
PMID:[Treatment of post-transfusion iron overload by deferoxamine]. 273 4

The sonographically determined length of uterus in 100 insulin-dependent diabetic girls of the age-classes 1964 to 1974 are considered in relation to diabetes mellitus. In order to recognise the possibility of a disturbed development of the inner genitals during puberty of juvenile diabetics, the uterus development is considered in relation to ossification age, duration of diabetes, and to the period before or after the 10th year of age as well as before respectively after menarche. Before the 16th year of age the growth curves of the uterus in all metabolism groups show non-significant delays, which are difficult to interpret. Up to the 18th year the course of the curves reach a similar standard of development--that is an average of 60 mm. In order to determine the precise moment of the diagnostic and therapeutic activity in delayed puberty development, it seems to us appropriate to use the sonographic measurement of the uterus length in addition to the definition of ossification age.
 ...
PMID:[Ultrasonic measurement of the uterus in juvenile diabetic patients and possible corrections between genital development and diabetes mellitus. 2]. 330 23

A 17-year-old boy who had been treated for insulin-dependent diabetes since age 2, and for coeliac disease since age 6, presented a major growth retardation (-6 SD), a delayed puberty and a hepatomegaly with excessive glycogen storage (Mauriac's syndrome). Improved metabolic control resulted in normal pubertal development and growth catch-up.
 ...
PMID:[Dwarfism and delayed puberty in a child with insulin-dependent diabetes mellitus]. 338 80

In the Tampere region in Finland, the incidence of childhood coeliac disease was 1:1,096 between 1964 and 1973 and 1:3,214 from 1974 to 1983. The clinical picture of coeliac disease had changed to milder forms, resulting in an upward shift of age at diagnosis. Coeliac disease was found in older children and adolescents, manifesting itself mostly in minor abdominal symptoms, short stature, delayed puberty, anaemia and joint complaints, and in children with diabetes mellitus. Long breast-feeding seemed to postpone the symptoms but the introduction of gluten was of no significance. The low incidence for 1974 to 1983 was thought to be due to the estimated 20 cases born in 1979 to 1983 who were not detected. We do not believe that coeliac disease has disappeared but that it will be found during the next decade in the patients who were not diagnosed in school age and adolescence.
 ...
PMID:Changing pattern of childhood coeliac disease in Finland. 338 34

Continuous delivery of drugs from portable and implantable pumps offers several advantages over intermittent therapy, including control and maintenance of blood levels of the drug within a narrow therapeutic range, and increased predictability of response. Clinical applications are discussed in the areas of diabetes mellitus, infertility and delayed puberty, iron overload, anticoagulation, analgesia, prevention of premature labour, cardiac arrhythmias, dissolution of gallstones and anticancer therapy.
 ...
PMID:Clinical applications of infusion systems. 638 71

21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman's syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 years had rib abnormalities. Respiratory function tests in children under 2 years demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an icthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced.
 ...
PMID:Shwachman's syndrome. A review of 21 cases. 743 69


1 2 3 4 5 Next >>