[Late diagnosis of a Di George syndrome].
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Biomedical subjects
Publications and source records attributed to G Vaillant.
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AIMS: To assess by a survey the management of prisoners with diabetes treated with insulin in French prisons. METHODS: A questionnaire was sent to the head of healthcare services for prisoners of every French prison. Information was obtained on prevalence of insulin-treated diabetes prisoners and diabetes care in prison. The number of episides of ketoacidosis and hypoglycaemia needing hospital admissions were evaluated during the past year. RESULTS: Among the 163 questionnaires sent, 115 were returned, giving an overall response rate of 69%. At the time of the study the prison population was 38 175 people. One hundred and sixty-nine prisoners were treated by insulin (0.4%). Self-monitoring of blood glucose was available only for 94 (55.6%) insulin-treated prisoners. A total of 130 (76.9%) prisoners performed two insulin injections daily or less, 105 (62.1%) prisoners were not allowed to keep their insulin delivery systems with them. Of the prisoners who treated themselves, 14 (12.1%) used syringes and 42 (36.5%) used pen devices. Ninety-two (55.1%) prisoners had had access to a diabetes specialist during the previous year. Diabetic diets were available in only 65 (60.7%) prisons. From June 1998 to June 1999, there were 20 hospital admissions for a diabetic ketoacidosis and 14 for hypoglycaemia. CONCLUSIONS: This study shows that prison decreases the autonomy of diabetic prisoners who often cannot self-inject or test their blood. Access to visiting consultant diabetologists and specialist nurses to educate both prisoners with diabetes and prison staff could improve diabetic care.
STUDY OBJECTIVE: The objective of this retrospective study was to report the results of ethanol injection in parathyroid adenomas. PATIENTS AND METHOD: Since 1988, 31 patients with inoperable primary hyperthyroidism have been treated by ultrasound-guided percutaneous ethanol injection into the adenoma. The main surgical contraindications were heart failure (n = 12) and age over 85 years (n = 11). Plasma calcium and PTH were measured 48 hours after ethanol injection and during subsequent follow-up. RESULTS: Patients had one to three ethanol injections. With a mean 5-year follow-up, total success with normal plasma calcium and PTH levels was achieved in 20 patients (64.5%), 4 of whom underwent another ethanol injection after 1 to 3 years. Partial success with correction of plasma calcium only was achieved in 9 patients (29%) resulting in an obvious clinical benefit. Failure was observed in 2 patients (6.5%) with nodular goiter, probably due to incorrect localization of the adenoma. Treatment was always well tolerated and no major side effect was observed. CONCLUSION: Ultrasound-guided percutaneous ethanol injection of parathyroid adenoma is effective in most cases of hyperparathyroidism and very useful in patients with a high surgical risk. The need for precise ultrasound localization of the adenoma is the main limitation of this treatment.
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An increased prevalence of hepatitis C virus (HCV) infection in patients with diabetes mellitus has suggested a link between these two conditions and the possibility of patient-to-patient HCV transmission during hospital admissions in diabetes units. We investigated the prevalence of HCV antibodies in 259 patients with diabetes mellitus consecutively admitted to our diabetic unit in 1998. The control group was composed of 14,100 volunteer blood donors. We divided the diabetic patients into two groups according to their HCV antibody status and also analysed patients for the following variables: age, disease duration, diabetes treatment, previous hospital admissions in a diabetes unit and use of finger stick devices. Anti-HCV antibodies were detected in 8 diabetic patients and 6 blood donors (3.09% vs 0.04%, p < 0.001). No differences were observed between anti-HCV-positive and anti-HCV-negative diabetic patients in terms of mode of treatment, previous hospital admissions in a diabetic unit and use of finger stick devices for capillary blood sampling. Our findings indicate that these medical practices play no role in nosocomial transmission of HCV in diabetic patients.
BACKGROUND: Total body 131-iodine labeled scintiscan is used to screen for residual tumoral tissue after ablation of differentiated thyroid carcinoma. At therapeutic doses, radioactive iodine can also be used for treatment. Thyroglobulin level, usually undetectable a few months after total thyroidectomy and metabolic irradiation with 131-iodine in patients without initial metastases, is absolutely necessary for interpreting the scintiscans. Iodine uptake occur in dermoid cysts which usually contain thyroid tissue. CASE REPORT: A 44-year old woman underwent total thyroidectomy with node dissection for papillary carcinoma of the thyroid with a vesicular architecture. Four months later, the total body 131-iodine scintiscan demonstrated a round zone of uptake in the pelvic area. The lesion was found to be a typical dermoid cyst. No thyroid or tumoral tissue could be demonstrated. DISCUSSION: Dermoid cysts can be the cause of false positive 131-scintiscans in patients followed after resection of differentiated thyroid carcinoma. Unlike previously reported cases, the dermoid cyst in this patient was totally devoid of thyroid tissue.
Graves' ophthalmopathy (GO) is a specific immune-mediated disorder, whose treatment is sometimes difficult. In order to investigate the efficacy of intravenous methylprednisolone (MP) pulse therapy in GO, we studied eight patients with GO, followed up for at least 6 months by clinical patient self-assessment, ophthalmological examination and orbital computed tomography (OCT). A 12.5 mg/kg dose of MP was administered intravenously over a 10 hour period, once every month. Three to six MP pulse administrations were performed in each patient. All patients were outpatients. A 0.5 mg/kg/day oral prednisone dose was given to each patient as interpulse therapy. Clinical assessment of MP pulse therapy showed a good response in 87.5% and no response in 12.5% of patients. The treatment was rapidly efficient, mostly on patient self-assessment, soft tissue inflammation, ophthalmoplegia, corneal involvement, visual acuity and extraocular muscle enlargement on OCT. Post-treatment ophthalmic index was significantly improved (6.75 +/- 3.06 vs. 2.5 +/- 1.41: p < 0.05). MP pulse therapy had less effect on proptosis (22.94 +/- 2.32 mm vs. 21.56 +/- 2.22 mm: p < 0.05). No adverse effects were noted with MP pulse therapy. Patients showed no relapse of eye involvement during a mean follow up of 31.8 months (2-77 months). In conclusion, our results suggest that intravenous MP pulse therapy is a good immunosuppressive therapy for GO. Moreover, in comparison with the previous studies, the MP dose used in our present study appears to be optimal with high efficacy. MP pulse therapy represents a safe and efficient treatment in GO, which can easily be performed in outpatients.
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Apolipoprotein A-IV (apoA-IV) might play an important role in lipoprotein metabolism, including modulation of triglyceride-rich lipoprotein catabolism, reverse cholesterol transport and cholesteryl ester transfer protein (CETP) activity. Increased apoA-IV levels have been reported in plasma from NIDDM patients. The aim of the present study was to look for a possible association between plasma apoA-IV level and prevalence of macrovascular disease in NIDDM. One hundred and thirty-six NIDDM patients were studied (71 men, 65 women). Macrovascular disease was assessed in each patient by a standardized questionnaire, physical examination, resting electrocardiogram (ECG), and laboratory evaluation (ankle/arm blood pressure ratio, continuous wave Doppler velocimetry). Moreover, patients without any history of coronary heart disease and showing a normal resting ECG underwent a bicycle exercise test or a dipyridamole thallium scintigraphy to detect possible silent myocardial ischemia. Among the 136 NIDDM patients, 56 had macrovascular disease. ApoA-IV levels were significantly higher in NIDDM patients with macrovascular disease than in NIDDM patients without macrovascular disease (20.9 +/- 8.6 vs. 13.3 +/- 5.3 mg/dl; P < 0.001). The influence of different factors, such as age, BMI, cigarette smoking, hypertension, total cholesterol, triglycerides, HDL cholesterol, apoA-IV level, apoA-IV phenotype, fasting glycemia, fasting C-peptide, and microalbuminuria, on the prevalence of macrovascular disease was analyzed using a logistic regression model. In the univariate analysis, apoA-IV level (P < 0.00001), age (P = 0.0087), hypertension (P = 0.012), microalbuminuria (P = 0.018), triglycerides (P = 0.02), and fasting C-peptide (P = 0.03) were positively associated with macrovascular disease. In the multivariate analysis, macrovascular disease was positively associated only with apoA-IV (P < 0.0001) and age (P = 0.003) and negatively associated with HDL cholesterol (P = 0.013). These results indicate that increased plasma apoA-IV level is associated with an increased prevalence of macrovascular disease in NIDDM. Moreover, apoA-IV, in NIDDM patients, appears to be a better marker for macrovascular disease than triglycerides.
A relationship between Lewis (a-b-) phenotype and the metabolic syndrome X has been suggested. We studied the frequency of Lewis (a-b-) phenotype in subjects with non-insulin-dependent diabetes mellitus (NIDDM) as well as the relationship between Lewis phenotype and lipid concentration in NIDDM patients. Lewis red blood cell phenotyping was done in 207 NIDDM subjects and 345 non-diabetic control subjects by immuno-agglutination with anti-Lewis a and b monoclonal antibodies. Among NIDDM patients, the proportion with the Lewis (a-b-) phenotype was significantly increased (23.6% vs 14.3%, p = 0.01), and this phenotype was associated with higher levels of triglycerides (2.40 +/- 2.58 vs 1.97 +/- 1.25, p = 0.03). This study shows a relationship between NIDDM and Lewis (a-b-) phenotype. Hypertriglyceridaemia in Lewis-negative NIDDM could suggest an increased risk of ischaemic heart disease for these subjects.
Iodine-131 whole body imaging and serum thyroglobulin are used in the follow-up evaluation of differentiated thyroid carcinomas. Iodine 131 is used to detect and treat functioning lesions. Iodine 131 activity detected outside the normal thyroid bed is usually attributed to metastatic disease. False-positive localization of radioiodine has been described, and may be a potential pitfall. We report here six personal cases of false-positive localisations of radioiodine du to body secretions, pathologic exudate, activity in nonlactating breast, salivary gland inflammation, ovarian teratoma. Some of these false-positive can be ruled out easily by removing of clothes, removing of nozzle in patients with tracheostomy, or by ingestion of water in subjects with abnormal mediastinal hyperfixation. Recognition of false-positive radioiodine images is very important to prevent costly additional investigation and possibly inappropriate therapy.
Cushing's syndromes caused by ectopic corticotropin secretion represent 10 to 15% in the causes of Cushing's syndrome. Somatostatin receptor scientigraphy can be successful in the localization of ACTH-secreting neuroendocrine tumors. We report a case of Cushing's syndrome caused by ectopic corticotropin secretion from a thymic carcinoid tumor. Conventional localization techniques failed but the tumor was detected by a double binding thoracic scintigraphy using 111Indium-octreotide and 99mTechnetium-albumine macroagregates.
Diagnosis of Cushing's syndrome is quite difficult in endocrinology. Spontaneous Cushing's syndrome is usually divided into two subgroups, one which is dependent on corticotropin (ACTH) and another one which is not. In the first class are Cushing's disease, the ectopic corticotropin syndrome and the rare ectopic corticotropin-releasing hormone (CRH) syndrome; these ACTH-dependent Cushing's syndrome have usually diffusely enlarged adrenal glands. In the second class are cortisol producing unilateral adrenocortical adenomas or carcinomas, and the recent Cushing's syndrome with food dependent periodic hormonogenesis. This food dependent Cushing's syndrome is an ACTH-independent Cushing's syndrome with multinodular enlargement of both adrenal glands. Pathogenesis is an aberrant adrenal sensitivity to physiologic secretion of gastric inhibitory peptide (GIP). Ectopic expression of GIP receptors on adrenal cells involve pathologic food induced cortisol secretion. Food dependent Cushing's syndrome is a new cause of Cushing's syndrome. Food induced cortisol secretion may have to be explored in the ACTH-independent Cushing's syndrome.
The aim of this study was to assess the main clinical biochemical and immunocytochemical factors influencing survival in 51 patients operated for medullary thyroid carcinoma (MTC). There were 55% of women and 37% of familial cases. Mean age was 43 +/- 3 years. The following survival variables were tested: sex, age, stage, familial disease, Serum Carcino Embryonic Antigen (CEA) and Calcitonin (CT) levels three months postoperatively, intensity of CEA and CT immunostaining, percentage of cells stained for CEA and CT. The actuarial survival rate, including postoperative mortality (N = 1), was studied by uni and multivariate analysis using a Cox model (N = 31). The 5-year survival was 69 +/- 7%. By univariate analysis, stages I or II (p < 0.0001), age of 45 years and less (p < 0.0001), normalized CEA levels (p < 0.006), percentage of CT stained cells greater than 80% (p < 0.04) and weak CT and CEA staining (p < 0.02) were significant predictors of increased survival rates. Age less than 45 and stages I or II were significant prognostic factors of goof survival on multivariate analysis (p < 0.001). We conclude that clinical criteria constitute good survival prognostic factors in patients operated for MTC. The better prognosis of familial cases was probably related to their earlier detection. The prognostic value of immunostaining remains controversial and requires further studies.
We report a case of primary Hyperparathyroidism (HPT) occuring in a 36 year old woman, during pregnancy. This woman received medical therapy to the delivery, then underwent parathyroidectomy in post-partum. Primary HPT during pregnancy is associated with increased risk of fetal loss, neonatal and maternal morbidity. Neonatal hypocalcemia is due to transient hypoparathyroidism consequent to abnormal suppression of fetal parathyroid hormone secretion by maternal hypercalcemia. Maternal hypercalcemia may be masked by hypoalbuminemia during pregnancy and often leads to aspecific symptoms which will differ the diagnosis. The recommanded treatment is parathyroidectomy which should preferably be performed during the second trimester of pregnancy; the efficacity of medical treatment is poor and transient.
OBJECTIVE: To determine plasma apolipoprotein A-IV (apoA-IV) levels and phenotype distribution in non-insulin-dependent diabetes mellitus (NIDDM) patients and to analyze the influence of apoA-IV phenotype on lipid profiles in NIDDM. RESEARCH DESIGN AND METHODS: Total cholesterol, triglyceride, high-density lipoprotein (HDL) cholesterol, HDL2 cholesterol, HDL3 cholesterol, free fatty acid, and apoA-IV levels were measured in 83 NIDDM patients and 100 normal control subjects. The apoA-IV phenotype was determined in each individual. RESULTS: In both sexes, NIDDM patients had significantly higher levels of triglyceride and free fatty acid and significantly lower levels of HDL cholesterol and HDL2 cholesterol than control subjects. In men and women, apoA-IV levels were significantly higher in diabetic patients than in control subjects (men: 17.1 +/- 7.9 vs. 12.3 +/- 3.6 mg/dl, P < 0.001; women: 18.9 +/- 9.9 vs. 11.9 +/- 3.5 mg/dl, P < 0.001). The multiple regression analysis showed that the apoA-IV level in NIDDM patients was significantly and independently related to log triglyceride (P = 0.0001) and HDL cholesterol (P = 0.01) levels. The apoA-IV phenotype distribution was not significantly different between NIDDM patients and control subjects. In the control subjects, the apoA-IV-1-2 phenotype was associated with significantly higher levels of HDL cholesterol (69 +/- 12 vs. 56 +/- 11 mg/dl, P < 0.01) and of HDL2 cholesterol (36 +/- 15 vs. 25 +/- 12 mg/dl, P < 0.05) compared with the apoA-IV-1-1 phenotype; on the other hand, HDL cholesterol and HDL2 cholesterol levels were not different between the two apoA-IV phenotypes in NIDDM patients. CONCLUSIONS: Plasma apoA-IV levels are increased in NIDDM patients. This increase in apoA-IV is related mainly to hypertriglyceridemia and, to a lesser extent, to HDL cholesterol level. The apoA-IV phenotype distribution is not different between NIDDM patients and nondiabetic control subjects. The potential protective lipid profile (characterized by increased HDL and HDL2 cholesterol levels) linked with apoA-IV-1-2 phenotype in control subjects is no longer found in NIDDM patients. We suggest that the metabolic state of NIDDM has erased the potential protective lipid profile associated with the apoA-IV-1-2 phenotype.