Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
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Current data on patients treated with human growth hormone (GH) were analyzed for the following safety topics. New leukemia. Thirteen of 46 new cases of leukemia were in non-Japanese patients without risk factors for leukemia (compared with at least 13 new cases expected). A possible increased occurrence of leukemia with GH treatment appears to be limited to patients with risk factors. Nonleukemic extracranial neoplasms. The number of cases reported (10) does not differ significantly from the number expected. Acute pancreatitis. In five of the seven cases reported risk factors (renal failure, valproic acid use, insulin-dependent diabetes mellitus) were present. The available data do not indicate a clear cause-and-effect relation between GH therapy and pancreatitis. Prepubertal gynecomastia. Of 15 possible cases, two were pubertal, eight resolved or improved with continued GH therapy, and two resolved with the cessation of GH therapy. An effect of GH treatment on prepubertal gynecomastia remains unknown. Scoliosis. Scoliosis is reported in fewer than 1 percent of the patients in the National Cooperative Growth Study (general-population prevalence, 1.5% to 3%). Curvature progression can occur during growth acceleration, and a causal association with GH treatment is not substantiated. Pigmented nevi. Nevi growth may be increased with GH treatment. Biopsies have detected no neoplasia or premalignant nevi transformations.
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PMID:Safety of human growth hormone therapy: current topics. 1124 Oct 65

Blood and urinary tests which are necessary for pregnancy diagnosis and follow-up, for newborn and mother medical supervision, during the month following birthday, are today described in reglementary texts, laws, and recommendations such as advised medical references (RMO). These documents specify the nature of obligatory tests, the checking rhythm and the list of useless tests. hCG research remains necessary for pregnancy diagnosis, but hCG dosage is essential only in case of programmed medical assistance or pathological pregnancy (extrauterine pregnancy, hydatiform mole, choriocarcinoma). The obligatory follow-up of a pregnant woman includes determination of blood groups, research of infectious agents responsible for diseases (toxoplasmosis, rubeola, hepatitis B, syphilis), proteinuria and glycosuria research and blood count according to a given calendar. When the mother's condition is bad and reminiscent of a pathological pregnancy, when a genetic risk exists for the fetus or when fetal growth is abnormal as indicated by echographic control (intra-uterine growth retardation), laboratory tests are used to follow the maternal pathological course (arterial hypertension, diabetes mellitus, anemia, bacterial, viral or parasitic disease), to verify the existence of a genetic disease, to know about the fetal functional state (by amniocentesis or cordocentesis), to identify an erythrocyte fetomaternal incompatibility. Since last trimester pregnancy accidents are able to endanger mother's and fetus lives, the feto-maternal follow-up must be adjusted to pathological diagnosis types and requires a particular supervision of the delivery. Finally mother and child must undergo a post-natal follow-up during the four weeks after birthday (perinatality control).
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PMID:[Pregnancy and perinatality: biological follow-up]. 930 27

A 36-year-old short-statured grande multipara (gravida 10, para 8) with diabetes mellitus and hyperlipidaemia was incidentally found to have Buschke-Ollendorff syndrome (osteopoikilosis and dermatofibrosis lenticularis disseminata). The pelvis and hips, followed by the knees, were the sites mainly affected by the osteopoikilosis. The lumbosacral spine was also affected. She had a single connective tissue naevus on the right thigh. Apart from two abortions, the repeated pregnancies were uneventful and all her deliveries were normal at full-term or nearly full-term. With regard to the relationship between Buschke-Ollendorff syndrome and multiparity, it was apparent that multiparity did not affect the involved weight bearing bony structures, nor did the disseminated osteopoikilosis interfere with the endurance of multiple pregnancies. Buschke-Ollendorff syndrome is known generally to have a benign course, a feature that is illustrated in this case, even when associated with the stresses of multiparity. The report also provides a short and updated review of various clinical aspects of the syndrome and its associations, some of which are of a serious nature.
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PMID:Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature. 964 21

The diagnosis of pancreatic cancer usually depends upon symptoms; consequently it is late when there is no chance for cure. At this point, pain, anorexia, early satiety, sleep problems and weight loss are present. Back pain also may be prominent, which predicts unresectability and shortened survival after resection. However, earlier recognition of symptoms of pancreatic cancer might improve early detection of the cancer. For example, 25% of patients have symptoms compatible with upper abdominal disease up to 6 months prior to diagnosis and 15% of patients may seek medical attention more than 6 months prior to diagnosis. These symptoms erroneously may be attributed to problems such as irritable syndrome. Symptoms, however, may be less common. For example a quarter of patients with pancreatic cancer may have no pain at diagnosis, and half, particularly those with pancreatic head tumors, may have little pain compared with patients with body-tail tumors. However, if the tumor is suspected because of predisposing conditions, earlier diagnosis may be possible. These conditions include diseases such as chronic pancreatitis, intraductal papillary mucinous tumor (IPMT), and recent onset of diabetes mellitus, particularly if the diabetes occurs during or beyond the sixth decade. In addition inherited syndromes also are associated with an increased risk of pancreatic cancer including familial pancreatic cancer, hereditary pancreatitis, familial adenomatous polyposis syndrome (FAP) and familial atypical multiple mole melanoma (FAMMM) syndrome (hereditary dysplastic nevus syndrome). Of these conditions, recent onset of diabetes may be the best clue and should be included in a clinical profile of patients prior to the onset of symptoms to identify a high-risk group to apply screening strategies for detection of early disease. Contrary to a clinical aphorism that pancreatic cancer patients are elderly, lean and recently may have developed diabetes, we found that patients who develop pancreatic cancer are overweight prior to onset of symptoms compared to controls (body mass index, 28 vs 25). Forty percent had the diagnosis of diabetes made at the time of diagnosis of pancreatic cancer and more patients with a resectable tumor had diabetes (58%) compared to patients with locally unresectable or metastatic disease (37%). Perhaps, screening overweight persons who have new-onset diabetes may lead to a diagnosis of asymptomatic, early, resectable pancreatic cancer.
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PMID:Pancreatic cancer: clinical presentation, pitfalls and early clues. 1043 7

We retrospectively analyzed the clinical and epidemiological profiles of patients with vitiligo attending the pigmentary dermatoses clinic. One thousand four hundred and thirty-six patients were seen between 1989 and 1993. Males constituted 54.5% of the group and females 45.5%. Mean age of the patients was 25 years, and average disease duration at the time of hospital visit was 3.7 years. Vitiligo vulgaris was the commonest form of the disease in 1002 (69.8%) patients followed by focal vitiligo in 214 (14.9%) and segmental vitiligo in 72 (5.0%). The sites of onset were the face, trunk, and legs in descending order of frequency. Less than 20% body area involvement was seen in 1356 (94.4%) of the patients. Leukotrichia was present in 165 (11.5%), and Koebner's phenomenon was observed in 72 (5.0%). Twenty nine (2.0%) patients had associated halo nevi. Of the various diseases associated with vitiligo, atopic/nummular eczema was seen in 20 (1.4%) patients, bronchial asthma in 10 (0.7%), diabetes mellitus in 8 (0.6%), thyroid disease in 7 (0.5%), and alopecia in 6 (0.4%). A family history of vitiligo was present in 165 (11.5%) patients.
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PMID:Vitiligo: clinical findings in 1436 patients. 1055 31

To study the clinical and epidemiologic profile of childhood vitiligo, we retrospectively analyzed the data of children with vitiligo attending the pigmentary clinic of our center. Of the 625 children seen over 10 years, 357 (57.1%) were girls and 268 (42.9%) were boys. As compared to adult patients with vitiligo, this sex difference was found to be statistically significant (p < 0.001). The mean age of onset of the disease was 6.2 years. Vitiligo vulgaris (generalized vitiligo) was the most common type, followed by focal, segmental, acrofacial, mucosal, and universal, in that order. The most frequent site of onset was the head and neck, followed by the lower limbs, trunk, upper limbs, and mucosae. Leukotrichia was present in 77 patients (12.3%), while Koebner phenomenon was observed in 71 patients (11.3%). Halo nevi were observed in 29 patients (4.4%). Seventy-six patients (12.2%) had a family history of vitiligo. Eight patients (1.3%) had an associated autoimmune disease. These associated disorders were alopecia areata in two patients, and diabetes mellitus, thyroid disease, Addison disease, polyglandular syndrome, and pemphigus vulgaris in one patient each.
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PMID:Epidemiology of childhood vitiligo: a study of 625 patients from north India. 1278 67

Aging of skin is a continuous process that may be enhanced by sun exposure. Photoaging may provoke changes different from aging. Epidermal changes involve thinning of stratum spinosum and flattening of the dermo-epidermal junction. The senescent keratinocytes becomes resistant to apoptosis and may survive for a long time giving time for DNA and protein damage to accumulate with possible implication for carcinogenesis. The numbers of melanocytes decrease with age with dysregulation of melanocyte density resulting in freckles, guttate hypo-melanosis, lentigines and nevi. The number of dendritic Langerhans cells also decreases with age and the cells get less dendrites and have reduced antigen-trapping capacity. Aging involves dermal changes such as damage to elastic and collagen fibers giving thickened, tangled, and degraded non-functional fibers. Collagen intermolecular cross-links are stable and essential for stability and tensile strength. Cross-links increase with age converting divalent cross-links into mature trivalent cross-links of, e.g. histidinohydroxylysinonorleucine. Two mechanisms are involved; an enzyme-controlled process of maturation and a non-enzymatic glycosylation, the Maillard reaction leading to cross-links in proteins such as in collagen between arginine and lysine. Such may be seen with age and in diabetes mellitus. However, autofluorescence studies have shown that UVR reduces collagen cross-links. Natural photoprotection involves thickening of stratum corneum by sunlight and increased pigmentation. This leads to a factor 2 increase in photoprotection from spring until after-summer. The constitutive pigmentation is independent of age and thickness of stratum corneum is likewise independent of age. The minimal erythema dose is thus the same through life, when corrected for pigmentation or measured in areas with constitutive pigmentation.
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PMID:Skin aging and natural photoprotection. 1503 73

The goal of prophylactic surgery is to prevent malignant growth in patients with hereditary tumor predisposition. The pancreas presents as particularly challenging, due to the difficulty of operation and comparatively high risk of morbidity and even mortality. In addition, partial operative procedures and, more significantly, total resection lead to exocrine pancreas insufficiency and secondary diabetes, with grave consequences for the patient. Hereditary tumor predisposition syndromes that can result in pancreaticoduodenal endocrine tumors (PET) include multiple endocrine neoplasia type 1 syndrome and von Hippel-Lindau syndrome. As penetrance is maximally 70-80% and the 10-year survival rate over 80%, prophylactic pancreatic resection without evidence of a tumor is not indicated. However, prophylactic extension of a resection would be advised, should a PET be diagnosed. Patients predisposed to developing ductal pancreatic carcinoma (PC) are at risk of familial pancreatic cancer syndrome (FPC), hereditary pancreatitis, and other hereditary tumor predisposition syndromes such as Peutz-Jeghers syndrome and familial atypical multiple mole-melanoma syndrome. As the gene defect responsible for FPC has yet to be identified and the penetrance of PC in the other tumor predisposition syndromes is low or unknown, a prophylactic pancreatectomy based on today's knowledge is not indicated. Prophylactic extension of the resection is advisable should PC or high-grade PanIN lesions be diagnosed, as these patients often present with multifocal dysplasia and even carcinoma.
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PMID:[Prophylactic pancreas surgery]. 1630 89

The interaction of reducing carbohydrates with proteins leads to a cascade of reactions that are known as glycation or Maillard reaction. We studied the impact of incubation of human serum albumin (HSA) with glucose, at various concentrations and incubation times, on the extent of HSA glycation and structural changes using circular dichroism (CD), fluorescence, and microviscometer techniques. The number of moles of glucose bound per mole of HSA (r), the number of reacted lysine and arginine residues, and the Amadori product formation during glycation were determined using 3-(dansylamino) phenyl boronic acid, fluorescamine, 9, 10 phenanthrenequinone, and p-nitroblue tetrazoliumchloride, respectively. The formation of advanced glycation end products (AGE) was detected using the autofluorescence characteristic of samples. We identified three stages of Maillard reaction for HSA upon incubation with the physiological level of glucose (0-630 mg/dl): the early, intermediate and late stages, which occurred after 7-14, 21, and >28 days of incubation, respectively. Structural information, Stokes radius, and 1-anilinonaphthalene-8-sulfonate (ANS) binding data indicated the formation of a molten globule-like state of HSA after 21 days of incubation with 35 mM (630 mg/dl) glucose. Thus, the extent of the Maillard reaction was influenced by the concentration of glucose and incubation time, such that longer exposure of HSA to glucose may have a more deleterious effect on its structure and especially on its half-life and turnover in the circulation. Our results suggest that in acute diabetes mellitus patients, HSA, after 21 days of glycation, passes through a molten globule-like state and may contribute to the pathogenesis of diabetes, and perhaps other diseases.
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PMID:Formation of the molten globule-like state during prolonged glycation of human serum albumin. 1736 29

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, neurological features, and multiple pigmented nevi. To date, twelve BBS genes have been cloned (BBS1-BBS12). Herein we discussed a patient with BBS who had multiple pigmented nevi.
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PMID:Bardet-Biedl syndrome: a case report. 1831 26


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