Pheochromocytoma.
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Adrenal Gland Neoplasms↗
Biomedical subjects
M Puig-Domingo
Publications and source records attributed to M Puig-Domingo.
[Validation of the Spanish version of the Modified Stanford Health Assessment Questionnaire (MSHAQ), an instrument to measure people's satisfaction at their ability to perform normal day-to-day activities].
OBJECTIVES: To design a Spanish version of the Modified Stanford Health Assessment Questionnaire (MSHAQ), and to evaluate its reliability, internal consistency and validity of construction. DESIGN: Adaptation using the translation and back-translation method, which focused on ensuring the conceptual equivalence of each item. For the validation study, a cross-sectional study was conducted.Participants. 52 people over 65 being monitored for a chronic clinical condition. MAIN MEASUREMENTS: As well as anamnesis and the Barthel index, subjects were asked to answer the Spanish version of the MSHAQ on the day of their visit and three days afterwards to evaluate test-retest reliability. RESULTS: A sample of 52 people, 23 men and 29 women, with a mean age of 74.2 (SD, 5.8) was examined. Study of test-retest reliability showed an intra-class correlation coefficient (ICC) of 0.89, 0.82, 0.88 and 0.51 for Tables A (capacity), B (satisfaction), C (need for help), and D (change in the last 6 months) of the MSHAQ. These four sub-scales were internally consistent, with Crombach's alpha of 0.83, 0.76, 0.61, and 0.82, respectively. There was a statistically significant correlation between all the tables in the questionnaire and between these and Barthel's index. CONCLUSIONS: It can be concluded that the Spanish version of the MSHAQ is a valid and reliable measuring instrument, which enables studies performed in various countries to be compared.
Activities of Daily Living↗
Islet cell and thyroid antibody prevalence in patients with hepatitis C virus infection: effect of treatment with interferon.
An increased prevalence of hepatitis C virus (HCV) infection in patients with diabetes and a higher prevalence of diabetes in HCV-infected patients have been reported. However, the relationship between these two conditions remains controversial. In addition, although the effect of interferon treatment on thyroid autoimmunity has been extensively reported, its influence on beta-cell autoantibodies has not been investigated. The aims of the study were (1) to evaluate whether autoimmune beta-cell damage could be involved in the development of diabetes mellitus in HCV-infected patients and (2) to determine whether interferon treatment influences the appearance of beta-cell and thyroid autoantibodies. The prevalence of islet cell autoantibodies (glutamic acid decarboxylase antibodies [GADAs], tyrosine phosphatase antibodies [IA-2s], islet cell antibodies [ICAs]) was assessed in 303 non-selected HCV-infected patients (277 non-diabetic and 26 type 2 diabetic patients) and in 273 sex- and age-matched control subjects. ICAs and thyroid autoantibodies were also determined before and 6 and 12 months after treatment with interferon for 24 weeks in a subgroup of 46 HCV-infected patients. GADAs were detected in 4 of 277 (1.4%) HCV-infected non-diabetic patients, 1 of 273 (0.3%) control subjects, and 0 of 26 (0%) HCV-infected patients with diabetes. Anti-IA2s and ICAs were negative in all subjects. Both GADAs and anti-IA2s were negative in all HCV-infected patients treated with interferon. After therapy, only thyroid antibodies became positive in 5 of 46 (10.9%) treated patients, disappearing in all but 1 of these at the 12-month follow-up. Our results suggest that beta-cell autoimmunity is not associated with HCV infection, thus making it unlikely that the increased diabetes mellitus prevalence among HCV-infected patients could be mediated by autoimmune mechanisms. In addition, interferon treatment induces a transient increase in thyroid autoantibodies but does not influence the appearance of beta-cell autoantibodies.
Adult↗
Transmission of high-risk HLA-DQB1 alleles in Chilean type 1 diabetic patients and their parents: stratification by the presence of ICA or GAD65 autoantibodies.
AIM: The purpose of this study was to assess whether the transmission of DQB1*0201 and DQB1*0302 alleles from heterozygous parents to Chilean type 1 diabetic patients depends on the presence of antibodies such as glutamic acid decarboxilase (GAD65) or Islet Cell (ICA) autoantibodies in the affected case. MATERIAL AND METHODS: A study of incident type 1 diabetic cases and parents was carried out in Santiago, Chile during 1997-98. The use of the case-parental design eliminates the possibility that case-controls differences are due to selection of controls whose genetic backgrounds differ systematically from those of cases. HLA-DQB1 polymorphisms were determined in cases and parents from n = 83 families using polymerase chain reaction and oligonucleotide dot-blot analysis. Detection of GAD65 antibodies was performed using a simple radio-binding asssay. Conventional ICA were detected by indirect immunofluorescence. RESULTS: Transmission disequilibrium test indicate a strong association between DQB1*0201 and DQB1*0302 and type I diabetes. When comparing the two subsets of families defined by having an affected child tested negative or positive for GAD65 antibodies (39 and 44 case-parent trios respectively) the probability of transmission of DQB1*0201 significantly differed between such strata (p-value=0.025). The pattern of transmission of DQB1*201 allele was also significantly different in the two subsets of families defined by ICA-or ICA+ cases (23 and 60 trios respectively) (p-value = 0.028). No differences were found in the transmission of DQB1*0302 allele in the different strata defined by the autoimmunity status of the proband. CONCLUSION: Our results reveal that DQB1*0201 allele may display distinct associations with type I diabetes depending on the autoimmunity to ICA and GAD65 autoantibodies.
Adolescent↗
Control of postprandial state abnormalities: meeting the challenge of type 2 diabetes?
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Delivery of Health Care↗
Mitochondrial gene transfer ribonucleic acid (tRNA)Leu(UUR) 3243 is not a common cause of gestational diabetes mellitus in Spanish women.
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Adult↗
[Isotopic study with double phase 99mTc-sestamibi in the localization of parathyroid gland lesions].
BACKGROUND: The use of preoperative imaging in patients with hyperparathyroidism remains controversial. The aim of this study is to assess the usefulness of the double-phase 99mTc-sestamibi scintigraphy in the diagnosis of abnormal parathyroid glands in patients with primary hyperparathyroidism. PATIENTS AND METHODS: We studied 60 patients presenting with primary hyperparathyroidism who were referred to surgery; four of them had been unsuccessfully operated. 99mTc-sestamibi scintigraphy were performed in all patients previously to surgery. Scintigraphic technique: planar imaging of the neck and thorax was done in the anterior view at 15 and 150 min postinjection of 740 MBq (20 mCi) of 99mTc-sestamibi. RESULTS: Surgery found 57 adenomas (2.59 [SD, 5.84] g; range 0.160-40), 6 hyperplastic glands (0.34 [SD, 0.26] g) and one carcinoma 8.2 g. The 99mTc-sestamibi was able to localize correctly 60 out of 64 lesions (55/57 adenomas, 4/6 hyperplastic glands and 1/1 carcinoma) (global sensitivity of 94%, adenomas sensitivity of 96%, positive predictive value of 97% and specificity of 98%). Isotopic imaging detected the abnormal tissue in all patients who had undergone unsuccessful previous surgery. PTH (4 [SD, 1.51] pmol/l) and calcium postoperative serum levels (2.13 [SD, 0.22] mmol/l) showed curation of all patients. CONCLUSION: Double phase parathyroid scintigraphy with 99mTc-sestamibi is the method of choice to localize abnormal parathyroid glands.
Adolescent↗
IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34 in genetic susceptibility to type 1 diabetes (insulin-dependent).
Type 1 diabetes (insulin-dependent) is a multifactorial disease with polygenic susceptibility. The major genetic component (IDDM1) resides within the HLA region, but several non-HLA loci have been implicated in the genetic susceptibility. In the present study, we have analysed two such loci, IDDM12 (CTLA4) on 2q33 and IDDM13 on 2q34, in Danish (n = 254) and Spanish (n = 39) type 1 diabetic multiplex families. No significant evidence of linkage of IDDM12 was observed in any of the two studied data sets. However, when the present data were combined with previously published data, they strengthened the evidence of linkage at this locus, p = 0.00002. For the IDDM13 region, we found some positive evidence of linkage of the D2S137-D2S164-D2S1471 markers (p-values 0.007, 0.02, and 0.007, respectively) using transmission disequilibrium testing (TDT) and the Tsp version of the TDT. Importantly, random transmission of all tested alleles was observed in unaffected offspring (p > 0.3). Stratification for HLA (high risk and non-high risk genotypes) in the Danish families did not reveal heterogeneity at IDDM12 or IDDM13. In conclusion, our data on an entirely new family data set did not support the existence of IDDM12 as a type 1 diabetes susceptibility locus in the Danish population. In addition, we found support for evidence of linkage and association of the IDDM13/D2S137-D2S1471 region (approximately 3.5 cM) to type 1 diabetes, however, further studies are needed to substantiate this observation.
Abatacept↗
Reversible endocrine dysfunction and pituitary stalk enlargement.
We report 4 patients (3 of which were children) with diabetes insipidus and different degrees of hypopituitarism in whom a pituitary stalk enlargement was disclosed on imaging techniques, and in whom radiological and functional recovery was observed during follow-up. Pituitary substitution therapy with desmopressin, thyroxine, hydrocortisone, growth hormone and/or oral contraceptives was prescribed. During follow-up, regression of the stalk lesion was seen which was spontaneous in 2 cases, following a short course of corticosteroids in another and an empirical trial of tuberculostatic drugs in the fourth. A partial recovery of pituitary function was also observed. These cases illustrate that pituitary stalk enlargement and associated hypopituitarism may be reversible; however, this morphological and functional recovery has rarely been described in adults and has not been previously reported in children.
Adolescent↗
Clinical forms of presentation and evolution of diffuse sclerosing variant of papillary carcinoma and insular variant of follicular carcinoma of the thyroid.
We investigated whether the diffuse sclerosing variant of papillary carcinoma (diffuse sclerosing PC) and insular carcinoma (IC), two different subforms of differentiated carcinoma of the thyroid gland, have different clinical behaviors and prognosis in order to select appropriate therapy. The characteristics of clinical presentation, and outcome after therapy were evaluated in a series of 113 patients (18 males and 95 females) with differentiated thyroid carcinoma treated with the same protocol, of which 7 had diffuse sclerosing PC and 6 had IC; within this series, patients with diffuse sclerosing PC and IC were compared with 76 cases of papillary carcinoma (PC) and 24 cases of follicular carcinoma (FC), respectively. Diffuse sclerosing PC patients were younger (23+/-9 vs. 38+/-16 years) and had a higher degree of lymphatic metastases at diagnosis (100%) than patients with PC (47%). Five of 7 patients with diffuse sclerosing PC were alive and without evidence of disease compared to 34 of 76 patients with PC at follow-up (6.4+/-5.1 and 7.9+/-7 years, respectively). No prognostic differences were found between them. IC showed a more advanced stage of disease at diagnosis and a more aggressive clinical course with a higher percent of metastases and mortality than patients with FC at follow-up (1 patient died and 5 were alive with persistent disease at 4.8+/-3.7 years for IC; 22 were alive, 13 of them with persistent disease; and 2 died at 8.4+/-5.3 years for FC). We conclude that patients with diffuse sclerosing PC do not require a different treatment than that given to PC patients, while in contrast, IC cases need a more aggressive therapeutic approach.
Adenocarcinoma, Follicular↗
Efficacy of preoperative diagnostic imaging localization of technetium 99m-sestamibi scintigraphy in hyperparathyroidism.
BACKGROUND: Until now, preoperative parathyroid imaging has been considered unnecessary because currently available techniques do not provide any better results than an expert surgeon. We conducted a multicenter prospective study evaluating the capability of technetium 99m sestamibi scintigraphy in the preoperative identification of pathologic glands. METHODS: Ninety-three patients with hyperparathyroidism, seven of them reoperative cases, were studied. In addition, 20 age-matched normocalcemic control subjects were also studied. RESULTS: Surgical confirmation of scintigraphic images was obtained in 91 of 93 cases (sensitivity, 97.8%). In all reoperative cases (n = 7), in all cases of ectopic glands (whether operated or not; n = 6), and in all patients with a single-gland disease (n = 70), topographic identification of the pathologic gland was correct in 100%. In multiple-gland disease (n = 23), involvement of more than one gland was visualized in only 61% of the patients; however, in 91% of patients, at least one gland was localized. Surgical success-defined as postoperative normocalcemia-with this approach was 100%. All scans of normocalcemic control subjects were negative. Of 31 patients in whom a multinodular goiter coexisted, seven presented a significant radionuclide background at 120 minutes' scan. False-positive images were found together with those corresponding to the pathologic glands in only three cases. CONCLUSIONS: 99mTc-sestamibi is a highly reliable, sensitive, and specific technique for imaging of pathologic glands in hyperparathyroidism, especially in single-gland disease. It may be considered as a first line single-procedure when a preoperative topographic diagnosis is required.
Adult↗
Circannual somatostatin gene and somatostatin receptor gene expression in the early post-natal rat pineal gland.
The origin of somatostatin in the pineal gland is controversial as a double origin - neural in pinealopetal nerve fibers and parenchymal corresponding to locally synthesized peptide - is suggested. We have investigated the ontogeny and possible circadian and circannual variations of somatostatin and somatostatin receptor gene expression in the rat pineal gland using RT-PCR. Somatostatin gene expression was observed in the pineal of animals up to 15 days of postnatal life in autumn and winter, but not in prepubertal or adult rats; no transcript was detected during spring and summer at any age and a circadian rhythm was only detected in 15-day-old rats. In situ hybridization confirmed these results. The transcript of the somatostatin receptor gene (SSTR2) was detected at all ages studied with no seasonal variations in its expression, indicating separate regulatory mechanisms. In conclusion, somatostatin and somatostatin receptor mRNAs are expressed in the neonatal rat pineal with circadian and seasonal variations.
Animals↗
Melatonin concentration before and during testosterone replacement in primary hypogonadic men.
OBJECTIVE: To study circadian levels of melatonin in primary hypogonadic adult men before and after testosterone treatment. DESIGN AND METHODS: Circadian serum melatonin profiles were studied in six men with primary hypogonadism before and during testosterone substitution and compared with an age-matched control group (n = 6). RESULTS: Hypogonadal patients had higher plasma melatonin concentrations than the control group during day time (34.2 +/- 8.8 compared with 5.4 +/- 0.5 ng/l, means +/- SD; P < 0.005) and night-time (74.8 +/- 34.5 compared with 30.8 +/- 3.2 ng/l). A 3 months course of testosterone replacement treatment in the hypogonadal group was followed by a diminution of the amplified melatonin circadian rhythm, with lower mean values both during the day (34.2.8 +/- 8 compared with 12.7 +/- 2.45 ng/l, P < 0.001) and at night (74.8 +/- 34.5 compared with 41.5 +/- 13.5 ng/l, P < 0.01), and a decrease in the total area under the curve (958 +/- 318 compared with 475.5 +/- 222.9, P = 0.046). There was a significant negative correlation between melatonin (r = -0.69) and testosterone concentrations. CONCLUSIONS: These data indicate that diminished testosterone in male primary hypogonadism is associated with enhanced plasma levels of melatonin, and that testosterone substitution treatment induces a deamplification of the circadian rhythm of melatonin values in humans.
Adult↗
Insulin antibody response to a short course of human insulin therapy in women with gestational diabetes.
OBJECTIVE: To assess the insulin antibody (IA) response to human insulin (HI) therapy in women with gestational diabetes. RESEARCH DESIGN AND METHODS: IAs were measured by a competitive radiobinding assay in 50 women with gestational diabetes before and during treatment with HI and after delivery. At delivery, 15 maternal-cord blood sample pairs were analyzed for IA. As a reference, we searched for IA in 25 new-onset type I diabetic patients, before and at 3, 6, and 12 months after insulin therapy. RESULTS: Insulin autoantibodies (IAAs) were detected in 1 of 50 women with gestational diabetes and 4 of 16 type I diabetic patients (P < 0.05). At the end of pregnancy after 9.3 +/- 6.8 weeks on insulin therapy, 22 of 50 (44%) women with gestational diabetes became IA+ and 4 additional women were found to be positive 2 months postpartum. After 3 months on insulin, type I diabetic patients showed a higher rate of IA positivity (92%, P < 0.001). IA titers at the end of pregnancy were associated with the cumulative insulin dose (r = 0.29, P < 0.05). Postpartum, IA disappeared slowly in most IA+ women, but two women still showed IA 2 years after delivery Titers in cord blood were strongly related to those in maternal blood (r = 0.74, P < 0.01). The rate of adverse fetal outcome did not differ in IA and IA- mothers (27 vs. 40%, NS). CONCLUSIONS: HI is immunogenic, and a short course of HI therapy induces IA in approximately 50% of women with gestational diabetes and 92% of type I diabetic patients. In women with gestational diabetes, insulin dose is slightly associated with IA titers. These IAs apparently cross the placenta. Fetal outcome does not differ according to the maternal IA status, and IAs disappear gradually after delivery but may remain positive for 2 years after delivery.
Adolescent↗
Expression of the somatostatin gene and receptors in the rat harderian gland.
Somatostatin is one of the numerous peptides described in the Harderian gland of different animals. With the aim of trying to elucidate its physiological role, we investigated whether this peptide is expressed in OFA rat Harderian gland at different ages and seasons and, if so, studied the regulatory proteins involved in the activation of the somatostatin gene, and also whether it contains any somatostatin receptors. Nursing (4-15-day-old), prepubertal (21-30-day-old), and adult (54-day-old) OFA rats were sacrificed by decapitation throughout the year, and the Harderian glands were excised and immediately frozen in liquid N2. The expression of somatostatin and its receptors was investigated using RT-PCR techniques; additionally, the existence of proteins which bind to cAMP responsive elements (CRE) was investigated using a band-shift technique. The somatostatin gene was expressed in the Harderian gland of rats aged 4-30 days in autumn and winter but not in spring and summer or in older animals. However, the somatostatin receptor was expressed throughout the year at all the ages studied. In the autumn, nuclear proteins binding to CRE (CREB) were present in 8-10-day-old rats but not in younger 4-day-old animals. We conclude that rat Harderian gland cells transcribe the somatostatin gene depending on the season and age of the animals, while its receptor is always present at all the ages studied; the CREB found produces the same retardation complex as ICER (inducible cAMP early repressor), an isoform of CREM (cAMP responsive element modulator), which in the pineal has been shown to be under adrenergic control. Since somatostatin expression is regulated by cAMP mechanisms, it is feasible that the existence of this repressor ICER could explain why somatostatin expression disappears in adult animals once maturation is complete.
Aging↗
Islet cell autoimmunity in women with gestational diabetes and risk of progression to insulin-dependent diabetes mellitus.
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Autoantibodies↗
Bronchial carcinoid tumor presenting as a thyroid nodule: an unusual clinical manifestation.
Although rare, carcinoid tumors may present as thyroid metastatic nodules. We describe two patients with an undiagnosed bronchial carcinoid tumor, who presented as a thyroid nodule. Pathological examination of these nodules was diagnostic. Chemotherapy was indicated despite the dissemination of the tumors. The patients have an excellent quality of life. They are asymptomatic and alive, 18 and 24 months after diagnosis, respectively. In one case, chemotherapy obtained an important reduction in the size of the tumoral lesions but the other case showed no regression. Octreotide (SMS 201-995) was used in the case with carcinoid syndrome, with an excellent response.
Adult↗
Thirty years of human pineal research: do we know its clinical relevance?
A role for melatonin in humans is becoming evident in an increasing number of clinical situations. Marked variations in the magnitude of the nocturnal melatonin peak are observed throughout the human lifespan. The highest levels occur in children and then fall during puberty and further during adulthood. A negative correlation between circulating melatonin and sex steroids has been observed in a number of instances, and appears to be independent of concomitant gonadotrophins. No clear melatonin pattern has been observed in pituitary tumors, but in large lesions that involve the hypothalamus, a reduced nocturnal rise has been reported. Reported effects of exogenously administered melatonin are variable, probably reflecting differences in dose and timing; a slight stimulation of prolactin, as well as a partial inhibition of gonadotrophins, has been reported, which explains its utility as an oral contraceptive, associated with a progestogen. A potential clinical use of melatonin as an oncostatic drug still awaits confirmation, although experimental data firmly support this possibility. The indole has also been used to hasten entrainment of subjects travelling across various time zones, and has been found to be specially useful in eastward travel. Finally, changes in the normal melatonin circadian pattern have been reported in psychiatric diseases and in sudden infant death syndrome.
Adult↗