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1.
Ann Endocrinol (Paris) ; 67(1): 32-8, 2006 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16596055

RESUMEN

UNLABELLED: We describe the clinical presentation, biochemical features, diagnostic criteria, clinical course and differential diagnosis in three cases of feminizing adreno-cortical carcinoma (FACC) with a review of the literature. PATIENTS: From 1970 throughout December 2003 among a series of 801 adrenalectomies, three had been performed for FACC. RESULTS: Age at presentation was 74, 63 and 23 years. Estradiol hypersecretion was observed in 3/3 patients, 17 OH progesterone was elevated in 2/3 patients and both of them had a diminution of testosterone, delta 4 androstenedione was elevated in 1/3 patients. Imaging studies suggested malignancy in 3/3 patients by the presence of necrosis, heterogeneity, calcifications, size of the tumor and compression of adjacent organs. All patients were stage III at presentation and had a Weiss score >or=6. Size and weight of the tumors were 30, 20, 15cm and 3750, 480 and 275g respectively. All 3 patients received mitotane and cortisone post-operatively and at follow up (7, 3 and 2 years) all 3 died of the disease. CONCLUSIONS: Feminizing adreno-cortical carcinomas in adults are exceedingly rare (1-2% of adreno-cortical carcinomas). Tumors are huge and even after surgery for cure their prognosis is worse than for other varieties of adreno-cortical carcinomas either secreting or non secreting. Early diagnosis and treatment may improve overall prognosis.


Asunto(s)
Neoplasias de la Corteza Suprarrenal/cirugía , Adrenalectomía , Feminización/etiología , Neoplasias de la Corteza Suprarrenal/sangre , Adulto , Andrógenos/sangre , Estrógenos/sangre , Hormona Folículo Estimulante/sangre , Humanos , Hormona Luteinizante/sangre , Masculino , Pronóstico , Factores de Tiempo , Resultado del Tratamiento
2.
J Clin Endocrinol Metab ; 86(7): 3091-6, 2001 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-11443172

RESUMEN

Pseudohypoparathyroidism Ia (PHP Ia) is characterized by resistance to PTH and many other stimuli because of deficiency of stimulatory G protein alpha-subunit. To determine the incidence, natural history, and mechanism of C cell dysfunction in PHP, calcitonin assays were performed in six patients with PHP Ia and four with pseudopseudohypoparathyroidism from three unrelated families. Controls included healthy subjects and patients with PHP Ib or hypoparathyroidism. The mean basal level of calcitonin was higher in PHP Ia patients than in controls (95.3 +/- 112.7 vs. 3.7 +/- 2.4 pg/mL; P = 0.005; n < 10). In PHP Ia patients, calcitonin levels rose over the normal range (30 pg/mL) after pentagastrin infusion in five patients and remained normal in one. Familial medullary thyroid carcinoma was clinically, biologically, and ultrasonographically ruled out over a mean follow-up exceeding 3 yr. Genomic screening for RET protooncogene mutations failed to reveal any anomaly. The calcitonin infusion test, which induced a significant increase in plasma cAMP in controls 30 and 60 min after infusion, failed to produce this response in PHP Ia patients, suggesting that the action of calcitonin was specifically impaired. PHP Ia may therefore be an independent etiology of hypercalcitoninemia and hyperresponsiveness to pentagastrin infusion.


Asunto(s)
Calcitonina/sangre , Proteínas de Drosophila , Seudohipoparatiroidismo/fisiopatología , Adulto , Carcinoma Medular/genética , AMP Cíclico/sangre , Femenino , Subunidades alfa de la Proteína de Unión al GTP Gs/sangre , Humanos , Hipoparatiroidismo/sangre , Masculino , Mutación , Pentagastrina , Proteínas Proto-Oncogénicas/genética , Proteínas Proto-Oncogénicas c-ret , Seudohipoparatiroidismo/sangre , Seudohipoparatiroidismo/genética , Proteínas Tirosina Quinasas Receptoras/genética , Neoplasias de la Tiroides/genética , Tirotropina/sangre , Hormona Liberadora de Tirotropina , Tiroxina/sangre , Triyodotironina/sangre
3.
Osteoporos Int ; 12(2): 117-23, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11303711

RESUMEN

Quantitative ultrasound (QUS) of bone is a valuable tool in the assessment of postmenopausal osteoporosis. QUS and new markers of bone turnover have been poorly assessed in Cushing's syndrome, however. Twenty-five patients with Cushing's syndrome (20 women, 3 men; mean age +/- SEM: 38+/-2 years) were studied and compared with 35 age- and sex-matched control patients (mean age +/- SEM: 38+/-2 years). The following variables were measured in both groups: QUS parameters at the heel (BUA; SOS; Stiffness Index, SI); bone mineral density (BMD) at both the lumbar spine (LS) and femoral neck (FN) by dual-energy X-ray absorptiometry; and serum markers of bone turnover (osteocalcin, procollagen type I N- and C-terminal propeptides (PINP and PICP), bone alkaline phosphatase (BAP), procollagen type I C-terminal telopeptide (ICTP) and urinary type I collagen C-telopepetide breakdown products (CTX)). Both BUA and SI were decreased in patients with Cushing's syndrome (p<0.01) but not SOS (p=0.08). BMD was also strongly decreased in Cushing's syndrome, at both the LS and FN (p<0.005). The two markers of bone turnover statistically significantly different between the two groups were osteocalcin (mean + SEM: 3.5 + 0.7 ng/ml (Cushing's syndrome) vs 6.4+/-0.5 ng/ml (controls, p<0.01)) and CTX (mean +/- SEM: 148.7+/-17.1 microg/mmol Cr (Cushing's syndrome) vs 220.8+/-22.9 microg/mmol Cr (controls), p<0.05). The areas under the receiver operating characteristic curve (AUC) were 0.72 (BUA), 0.73 (SI), 0.90 (BMD(LS)), 0.81 (BMD(FN)), 0.83 (osteocalcin) and 0.64 (CTX) respectively. AUC was significantly higher for BMD(LS) than for both BUA and SI (p<0.05). Conversely AUC was not statistically significantly different for BMDFN as compared with either BUA or SI. AUC was also higher for osteocalcin than for other markers of bone turnover. In conclusion, QUS of bone seems to be a relevant tool for assessing bone involvement in Cushing's syndrome. QUS does have a lower sensitivity compared with DXA, however, and the relevance of QUS cannot be ascertained until some longitudinal data are forthcoming. Except for CTX, the other new markers of bone turnover assessed in this study (PINP, PICP, BAP and ICTP) do not seem of interest in Cushing's syndrome.


Asunto(s)
Remodelación Ósea/fisiología , Síndrome de Cushing/fisiopatología , Osteoporosis Posmenopáusica/complicaciones , Osteoporosis Posmenopáusica/fisiopatología , Absorciometría de Fotón/métodos , Adulto , Fosfatasa Alcalina/sangre , Biomarcadores/sangre , Densidad Ósea/fisiología , Colágeno/orina , Síndrome de Cushing/complicaciones , Síndrome de Cushing/diagnóstico por imagen , Femenino , Talón , Cadera , Humanos , Masculino , Persona de Mediana Edad , Osteocalcina/sangre , Osteoporosis Posmenopáusica/diagnóstico por imagen , Procolágeno/sangre , Sensibilidad y Especificidad , Columna Vertebral , Ultrasonografía
4.
Presse Med ; 30(2): 74-80, 2001 Jan 20.
Artículo en Francés | MEDLINE | ID: mdl-11244819

RESUMEN

THE APOPTOTIC FAS/FAS-L PATHWAY: Represents a major apoptotic pathway and involves the specific interaction between a membrane receptor, Fas, harbored by the target cell and a membrane ligand, Fas-L, harbored by the cytotoxic cell. FAS AND NORMAL THYROID GLAND: Normal thyrocytes express Fas receptor but not its ligand. The control of thyroid gland volume results from an equilibrium between the trophic action of TSH and thyrocyte apoptosis, which is limited to some extent by resistance to Fas activation by producing an inhibitor of the apoptotic signal transduction. FAS AND HASHIMOTO'S THYROIDITIS: Aberrant expression of Fas-L by thyrocytes induces their fratricide apoptosis. Thyroid-infiltrating lymphocytes are resistant to apoptosis by overexpressing the antiapoptotic protein Bcl2. FAS AND GRAVES' DISEASE: Autoantibody-dependant stimulation of the thyrotropin receptor favors goiter formation by reducing thyrocyte apoptosis. It induces repression of Fas expression and production of a soluble Fas, whose serum levels are correlated with clinical course. FAS AND THYROID CANCER: Tumoral cells are resistant to apoptosis by inhibiting the apoptotic signal transduction and exert Fas counter-attack by inducing apoptosis of antitumoral lymphocytes.


Asunto(s)
Apoptosis/fisiología , Enfermedad de Graves/inmunología , Glándula Tiroides/fisiología , Neoplasias de la Tiroides/inmunología , Tiroiditis Autoinmune/inmunología , Receptor fas/fisiología , Humanos , Tirotropina/fisiología
5.
Rev Neurol (Paris) ; 156(11): 965-75, 2000 Nov.
Artículo en Francés | MEDLINE | ID: mdl-11119048

RESUMEN

Neurological impairment is a frequent cause of morbidity and mortality in patients with sarcoidosis. The aim of this study was to evaluate the clinical manifestations of the disease, the response to corticosteroids and alternative treatments. During a 5 year period, diagnosis of neurosarcoidosis was performed in 40 patients. We retrospectively analyzed clinical, laboratory data and response to treatments. Mean age was 41.3 years (range 17-72). Mean time of follow-up was 46 months. Neurologic signs were the first symptom in 50 p. 100 of cases and an isolated manifestation in 12.5 p. 100. Central nervous system impairment was seen in 60.7 p. 100, meningitis in 27 p. 100. Other clinical manifestations were cranial nerve palsies (27 p. 100), peripheral neuropathy (33 p. 100), myopathy (16 p. 100). Eighty percent of the patients were treated by corticosteroids. Because of a lack of efficacy 40 p. 100 of patient required alternative treatment (including methotrexate, cyclophosphamide, azathioprin, cyclosporin). Complete recovery was observed in only 27.5 p. 100 of cases confirming the severity of neurosarcoidosis. Forty percent of patients were clinically stable and 10 p. 100 worsened. No patient died. This study confirms that intensive initial treatment is often necessary to prevent irreversible lesions. Alternative treatment should be rapidly initiated in resistant forms.


Asunto(s)
Antiinflamatorios/uso terapéutico , Encefalopatías/diagnóstico , Encefalopatías/tratamiento farmacológico , Sarcoidosis/diagnóstico , Sarcoidosis/tratamiento farmacológico , Adolescente , Adulto , Anciano , Azatioprina/uso terapéutico , Encéfalo/patología , Ciclofosfamida/uso terapéutico , Ciclosporina/uso terapéutico , Electromiografía , Femenino , Humanos , Inmunosupresores/uso terapéutico , Imagen por Resonancia Magnética , Masculino , Metotrexato/uso terapéutico , Persona de Mediana Edad , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Esteroides , Resultado del Tratamiento
6.
Ann Endocrinol (Paris) ; 61(3): 194-9, 2000 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-10970943

RESUMEN

UNLABELLED: Syndromes of resistance to thyroid hormone (RTH) are almost always linked to a defective triiodothyronine-receptor B gene (TRB). Only six families with RTH exhibiting a normal TRB gene have been reported so far. We report another and discuss possible mechanisms. PATIENTS AND METHODS: We studied a kindred expressing a typical RTH phenotype. DNA was amplified and the TRB gene was sequenced. Linkage analysis assessed linkage between the TRB gene and RTH phenotype. RESULTS: Direct sequencing of the TRB gene failed to identify any anomaly in the coding exons. Linkage analysis demonstrated that the RTH phenotype was not linked to the TRB gene in this family. CONCLUSION: TRB1 and TRB2 genes were not defective in this family. Multiple mechanisms might account for this situation at the pre-receptor, receptor and post-receptor levels. The most likely hypothesis is the involvement of an abnormal nuclear cofactor serving a specific function in the regulation of thyroid hormone action.


Asunto(s)
Receptores de Hormona Tiroidea/genética , Síndrome de Resistencia a Hormonas Tiroideas/genética , Adulto , Repeticiones de Dinucleótido , Femenino , Ligamiento Genético , Haplotipos , Humanos , Mutación , Linaje , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo Conformacional Retorcido-Simple , Análisis de Secuencia de ADN , Tirotropina/sangre , Hormona Liberadora de Tirotropina , Tiroxina/sangre , Triyodotironina/sangre
7.
Clin Endocrinol (Oxf) ; 51(1): 101-7, 1999 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-10468972

RESUMEN

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal genetic disorder, the clinical phenotype of which includes tumours of the parathyroids and/or anterior pituitary and/or endocrine pancreas. The genetic defect has been mapped to the chromosome 11q13 and the MEN1 gene has been recently identified, thus allowing genetic screening in affected kindreds. The aim of this study was to establish the usefulness of genetic screening in the follow-up of a large MEN1 kindred. PATIENTS: We describe a large kindred of 91 members, of whom 56 had clinical, biochemical and genetic screening. Twenty eight of them have been tested annually for the last 5 years. RESULTS: Although the precise mutation is still undetermined in this kindred, genotypic determination confirmed linkage with the MEN1 gene in affected members and excluded 28 members from annual testing. By drawing our attention to susceptible subjects, genetic screening improved the evaluation of age-related penetrance of the disease in the 3 generations from this kindred. For instance, annual screening showed conversion from unaffected to affected phenotype in 4 subjects aged 14, 14, 15, and 17 years. Moreover, genetics helped us to evaluate the specificity of clinical or biochemical markers, and thus to discard useless investigations. So far however, the genetics have not helped to explain the phenotypic heterogeneity and particularly low incidence of pancreatic tumours in this kindred. CONCLUSION: Genetic screening is very useful in detecting high risk individuals for MEN 1, since it avoids time-consuming and expensive investigations in non-affected subjects. By providing better understanding of the age-related penetrance of this syndrome, it improves the efficiency of screening. Genetic studies allow differentiation between clinical and biochemical features that are useful in follow-up and other confusing or unhelpful parameters.


Asunto(s)
Pruebas Genéticas , Neoplasia Endocrina Múltiple Tipo 1/genética , Proteínas de Neoplasias/genética , Proteínas Proto-Oncogénicas , Adolescente , Adulto , Edad de Inicio , Anciano , Niño , Preescolar , Femenino , Estudios de Seguimiento , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 1/diagnóstico , Linaje , Penetrancia , Fenotipo , Estudios Retrospectivos , Sensibilidad y Especificidad , Análisis de Secuencia de ADN
8.
Surgery ; 124(6): 1128-33, 1998 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-9854594

RESUMEN

BACKGROUND: Despite cure of primary aldosteronism by surgical resection, hypertension persists postoperatively in 30% to 50% of patients. The aim of this study was to determine factors influencing long-term outcome of blood pressure after unilateral adrenalectomy for primary aldosteronism. METHODS: Records of 100 patients who underwent unilateral adrenalectomy for primary aldosteronism from 1970 through 1997 were reviewed. Patients were distributed in 2 groups according to whether blood pressure was normal (criteria of World Health Organization). Clinical, biochemical, and pathologic data were compared. RESULTS: All patients were biochemically cured. Blood pressure was normal in 56 patients and improved in 44 (mean follow-up, 69 and 59 months). Persistent hypertension correlated with age, known duration and seriousness of preoperative hypertension, family history of hypertension, no preoperative response to spironolactone, and contralateral adrenal hypertrophy. Gender, surgical approach, and pathologic findings were not predictive factors of blood pressure outcome. The prevalence of hypertension was almost the same in these postoperative patients as the prevalence of essential hypertension in a random population of the same age. CONCLUSIONS: Early unilateral adrenalectomy allows cure or improvement of hypertension in all patients with primary aldosteronism induced by unilateral excessive source of aldosterone secretion regardless of the pathologic findings. Persistent hypertension suggests that coexisting essential hypertension is present.


Asunto(s)
Adrenalectomía , Hiperaldosteronismo/cirugía , Hipertensión/cirugía , Adolescente , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Hiperaldosteronismo/complicaciones , Hipertensión/epidemiología , Hipertensión/etiología , Masculino , Persona de Mediana Edad
9.
World J Surg ; 22(12): 1218-24, 1998 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-9841747

RESUMEN

Intraoperative hormonal measurements have been used successfully to guide the surgical treatment of various endocrine diseases. In this study, we report the results of intraoperative insulin measurement (IIM) in patients with organic hypoglycemia. IIMs were performed during 52 operations in 51 patients. Hyperinsulinism was secondary to a sporadic insulinoma (M = 40), a type I multiple endocrine neoplasia (MEN-I) (M = 8), an insulin-secreting carcinoma (M = 1), or pancreatic nesidioblastosis (M = 2). The insulin was measured with a radioimmunologic assay in blood samples simultaneously drawn from a peripheral vein and the portal vein at the beginning of the operation (T1) and 20 minutes after tumor removal (T2). Normoglycemia was achieved after surgery in 50 cases (96%). Systemic and portal insulin levels were normal at T1 in eight patients, precluding any further interpretation of the test. Completeness of surgery was confirmed by normalization of both systemic and portal insulin levels at T2 in 36 patients. In seven cases the systemic or portal insulin levels (or both) remained elevated at T2 despite a favorable outcome after surgery. Failure of the surgical procedure was predicted in two patients by the persistence of high levels of insulin at T2. In patients with initially elevated serum insulin levels, the positive predictive value and the specificity of intraoperative insulin measurement for completeness of surgery were both 100%. The sensitivity was 84%, the negative predictive value 22%, and the accuracy of the test 84%. We concluded that IIM is a simple, highly reliable tool for predicting the completeness of surgery in patients with organic hypoglycemia. IIM appears to be a valuable addendum to the surgical armamentarium against insulinoma especially for patients with atypical causes, such as MEN, insulin-secreting carcinoma, or pancreatic nesidioblastosis.


Asunto(s)
Insulinoma/sangre , Insulinoma/cirugía , Monitoreo Intraoperatorio , Neoplasias Pancreáticas/sangre , Neoplasias Pancreáticas/cirugía , Adolescente , Adulto , Anciano , Niño , Femenino , Humanos , Hipoglucemia/sangre , Hipoglucemia/etiología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Sensibilidad y Especificidad , Insuficiencia del Tratamiento
10.
World J Surg ; 22(7): 718-24, 1998 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-9606288

RESUMEN

Postoperative hypocalcemia is a common and most often transient event after extensive thyroid surgery. It may reveal iatrogenic injury to the parathyroid glands and permanent hypoparathyroidism. We prospectively evaluated the incidence of hypocalcemia and permanent hypoparathyroidism following total or subtotal thyroidectomy in 1071 consecutive patients operated during 1990-1991. We then determined in a cross-sectional study which early clinical and biochemical characteristics of patients experiencing postoperative hypocalcemia correlated with the long-term outcome. Postoperative calcemia under 2 mmol/l was observed in 58 patients (5. 4%). In 40 patients hypocalcemia was considered severe (confirmed for more than 2 days, symptomatic or both). At 1 year after surgery five patients (0.5%) had persistent hypocalcemia. We found that patients carried a high risk for permanent hypoparathyroidism if fewer than three parathyroid glands were preserved in situ during surgery or the early serum parathyroid hormone level was /= 4 mg/dl under oral calcium therapy. When one or more of these criteria are present, long-term follow-up should be enforced to check for chronic hypocalcemia and to avoid its severe complications by appropriate supplement therapy.


Asunto(s)
Hipocalcemia/etiología , Tiroidectomía , Estudios Transversales , Estudios de Seguimiento , Humanos , Hipoparatiroidismo/etiología , Complicaciones Posoperatorias , Estudios Prospectivos
11.
Ann Endocrinol (Paris) ; 58(3): 233-9; discussion 240-1, 1997.
Artículo en Francés | MEDLINE | ID: mdl-9239247

RESUMEN

AIM OF THE STUDY: Evaluation of frequency and outcome of loco-regional persistance and recurrences of differentiated thyroid carcinomas after surgery. MATERIAL AND METHODS: from 1964 to December 1990, we operated and followed up more than 5 years (from 5 to 31 years): 589 thyroid cancers (309 papillary, 262 follicullar et 18 Hürthle cells); 145 patients were lost to follow-up (24%), 33% of them were microcarcinomas. Surgery consisted ultimately in 411 total thyroidectomies, 51 sub-total thyroidectomies, 113 lobectomies with isthmusectomies, 9 isthmusectomies or tumorectomies and 4 tracheotomies. Neck dissection was not routinely performed but rather selectively (n = 137). All Patients were put under suppressive hormone therapy. After total thyroidectomy, ablative 131 iodine was almost routinely done. All patients have been controlled by clinical examination, radio-iodine scanning and, since 1983, by sequential thyroglobulin assays. We have analysed the course of patients according to L. J. Degroot's staging (Stage I: Patient with intrathyroidal disease. Stage II: Patient with cervical node involvement. Stage III: Patient with extra-thyroidal neck invasive disease. Stage IV: Distant metastasis). RESULTS: Stage I, n = 383, Stage II, n = 96. Total = 479. Local recurrences in the bed of total thyroidectomy were exceptional: n = 2/323 (0.6%). Recurrences in the thyroid remnant after non total thyroidectomy were rare: n = 3/156 (2%). Cervical nodal recurrences were also rare: n = 7/479 (1.5%). Stage III (n = 73): 34/306 papillary, 9/78, well differentiated follicular, 25/175 poorly differentiated follicular. 2/9 follicular of other type and 3/18 hurtle cell. In 67 patients, the loco-regional sterilization was achieved, 5 of which were reoperated for nodal cervical metastasis. 6 patients died from continuing loco-regional disease and 10 presented distant metastases. 4 of which died from. Among opered patients are still alive (52/73 = 71,2%) no loco-regional recurrence persisted. CONCLUSION: The true problem is not recurrence but the persistance after surgery in stage III patients, despite the application of 1131. The determining factor of the persistance and recurrence is the initial stage of the carninomatous disease at the time of treatment.


Asunto(s)
Adenocarcinoma Folicular/cirugía , Recurrencia Local de Neoplasia/epidemiología , Neoplasias de la Tiroides/cirugía , Adenocarcinoma Folicular/epidemiología , Adenocarcinoma Folicular/patología , Adulto , Anciano , Carcinoma Papilar/epidemiología , Carcinoma Papilar/patología , Carcinoma Papilar/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia , Estadificación de Neoplasias , Estudios Retrospectivos , Neoplasias de la Tiroides/epidemiología , Neoplasias de la Tiroides/patología , Tiroidectomía
12.
Rev Med Interne ; 17(7): 541-4, 1996.
Artículo en Francés | MEDLINE | ID: mdl-8881378

RESUMEN

An auricular or nasal chondritis or a saddle nose deformity are the initial manifestation in half of cases of relapsing polychondritis; the other initial manifestations are various and less evocative; polyarthritis, laryngo-tracheal symptoms, episcleritis which delay the diagnosis. From 15 cases of relapsing polychondritis, the diagnosis time from the first symptom are studied; this one is long, about 3 years and 6 months (from 3 months to 17 years) in 13/15 of the cases even if the first manifestation is typical (external chondritis). In two cases only, the diagnosis was established after the first attack. This late of diagnosis had socioeconomical impact and exposed to severe complications like tracheal chondritis.


Asunto(s)
Policondritis Recurrente/diagnóstico , Adulto , Anciano , Enfermedades de los Cartílagos/etiología , Errores Diagnósticos , Cartílago Auricular , Femenino , Humanos , Enfermedades de la Laringe/etiología , Masculino , Persona de Mediana Edad , Nariz , Policondritis Recurrente/complicaciones , Estudios Retrospectivos , Factores de Tiempo , Tráquea
13.
Leukemia ; 9(4): 731-3, 1995 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-7723411

RESUMEN

We report five patients with both a myelodysplastic syndrome (MDS) and relapsing polychondritis (RP), that represented 0.6% of all MDS and 28% of all RP diagnosed over a period of 14 years. Ten other cases had previously been reported (four in detail), supporting a non-fortuitous association between the two disorders, already suggested for MDS and some other immunological disorders.


Asunto(s)
Síndromes Mielodisplásicos/complicaciones , Policondritis Recurrente/complicaciones , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad
14.
Ann Chir ; 49(6): 500-6, 1995.
Artículo en Francés | MEDLINE | ID: mdl-8526442

RESUMEN

The "Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1 (GENEM 1)" is a French group involved in a comprehensive multicentre study of Multiple Endocrine Neoplasia type 1 syndrome (NEM 1). The objectives of this group are to define diagnostic and therapeutic protocols and to carry out genetic research on NEM1. The first aim of physicians is to recognize the syndrome and to determine the appropriate screening especially into two circumstances: 1 degree In case of isolated and sporadic glandular disease -i-e-parathyroid glands, endocrine pancreas, antehypophysis, adrenal glands and neuroendocrine tumors? 2 degrees In case of very high probability of NEM 1 syndrome? This paper answers these two questions, based on the analysis of the first 150 cases collected by the GENEM 1.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/prevención & control , Neoplasia Endocrina Múltiple Tipo 1/prevención & control , Neoplasias Pancreáticas/prevención & control , Neoplasias de las Paratiroides/prevención & control , Neoplasias Hipofisarias/prevención & control , Adenoma/genética , Adenoma/prevención & control , Adenoma/cirugía , Adolescente , Neoplasias de las Glándulas Suprarrenales/genética , Adulto , Anciano , Anciano de 80 o más Años , Tumor Carcinoide/genética , Tumor Carcinoide/prevención & control , Femenino , Francia , Gastrinoma/genética , Gastrinoma/prevención & control , Gastrinoma/cirugía , Humanos , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 1/genética , Neoplasia Endocrina Múltiple Tipo 1/cirugía , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/cirugía , Neoplasias de las Paratiroides/genética , Neoplasias de las Paratiroides/cirugía , Adenohipófisis , Neoplasias Hipofisarias/genética
15.
Nat Genet ; 7(3): 396-401, 1994 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-7920658

RESUMEN

The thyrotropin receptor (TSHR), a member of the large family of G protein-coupled receptors, controls both the function and growth of thyroid cells via stimulation of adenylyl cyclase. We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments. When expressed by transfection in COS-7 cells, the mutated receptors display a higher constitutive activation of adenylyl cyclase than wild type. This new disease entity is the germline counterpart of hyperfunctioning thyroid adenomas, in which different somatic mutations with similar functional characteristics have been demonstrated.


Asunto(s)
Genes Dominantes , Hipertiroidismo/genética , Mutación Puntual , Receptores de Tirotropina/genética , Adenoma/genética , Adenilil Ciclasas/metabolismo , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Línea Celular , Chlorocebus aethiops , AMP Cíclico/fisiología , Análisis Mutacional de ADN , Activación Enzimática , Femenino , Francia/epidemiología , Humanos , Masculino , Modelos Moleculares , Datos de Secuencia Molecular , Linaje , Conformación Proteica , Receptores de Tirotropina/química , Receptores de Tirotropina/fisiología , Sistemas de Mensajero Secundario , Neoplasias de la Tiroides/genética , Transfección
16.
Rev Med Interne ; 14(10): 955, 1993.
Artículo en Francés | MEDLINE | ID: mdl-8009051

RESUMEN

Thyroid hormones, TSH and antithyroid antibodies were prospectively controlled in 116 patients treated with amiodarone. Hypothyroidism occurred in 4 patients (3.7%) mainly early (average = 6 months). Hyperthyroidism was seen among 13 patients (11.9%) and its prevalence was proportional to therapy duration.


Asunto(s)
Amiodarona/efectos adversos , Enfermedades de la Tiroides/inducido químicamente , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos
17.
World J Surg ; 16(4): 640-5; discussion 645-6, 1992.
Artículo en Inglés | MEDLINE | ID: mdl-1384244

RESUMEN

From 1964 to 1989, bone metastases were found in 28 of 600 patients operated on for differentiated thyroid carcinoma. Bone metastasis was the presenting symptom in 15 (54%) patients, was detected from the initial symptom in 4 (14.5%) patients, and occurred subsequently in 9 (32%) patients, with an average lag time of 4.5 years after surgical treatment. Pathological pattern of the thyroid cancer was follicular in 26 (93%) patients and papillary in 2 (7%) patients. Bone metastatic involvement was multiple in 21 (75%) patients and associated with other synchronous or metachronous distant metastases in 13 (46%) patients, especially in the lung (10 patients) or the brain (3 patients). The primary treatment of thyroid carcinoma was total thyroidectomy in all 28 patients, with additional modified neck dissection in 8 patients. All 15 patients presenting with symptoms had bone metastases demonstrated by x-ray studies. Six of the bone metastases only took up radioactive iodine 6 weeks after total thyroidectomy, as did 2 of 4 bone metastases detected at initial observation and 4 of 9 metachronous bone metastases. All 12 patients with functioning bone metastases were given radioactive iodine therapy; 4 of the metastases were surgically resected. Only 2 patients with bone metastases showed a complete response after an ablative dose of I-131; none of the metastases had been demonstrated by x-ray studies. Radioactive iodine therapy cures no more than 17% of patients with bone metastases taking up radioactive iodine and 7% of all patients with bone metastases. All patients cured of bone metastases were given radioactive iodine, either alone, or combined with other treatment.(ABSTRACT TRUNCATED AT 250 WORDS)


Asunto(s)
Adenocarcinoma/radioterapia , Adenocarcinoma/secundario , Neoplasias Óseas/radioterapia , Neoplasias Óseas/secundario , Carcinoma Papilar/radioterapia , Carcinoma Papilar/secundario , Radioisótopos de Yodo/uso terapéutico , Neoplasias de la Tiroides/patología , Adenocarcinoma/cirugía , Adolescente , Adulto , Anciano , Neoplasias Óseas/cirugía , Carcinoma Papilar/cirugía , Terapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Cuidados Paliativos , Cuidados Posoperatorios , Estudios Retrospectivos , Neoplasias de la Tiroides/cirugía , Tiroidectomía , Resultado del Tratamiento
18.
Ann Cardiol Angeiol (Paris) ; 39(5): 305-9, 1990 May.
Artículo en Francés | MEDLINE | ID: mdl-2195978

RESUMEN

This randomized multicentre study in elderly hypertensives with two unbalanced groups (2 patients under labetalol for 1 patient under nifedipine) compared the efficacy and safety of labetalol, whose dosage could be adjusted (1, 2, then 3 tablets/day) according to blood pressure level (BP greater than or equal to 160/95 mmHg), to that of nifedipine given at its recommended dosage (2 tablets/day). The treatment period lasted 6 weeks (D42). The main judgment criteria was the rate of patients with normalized BP under treatment (SBP less than 160 and DBP less than 95 mmHg). The analysis was carried out on 170 patients, 112 labetalol and 58 nifedipine. Both groups were homogeneous when entering into the study. The only difference was a higher rate of smokers in the nifedipine group compared with labetalol's (29% vs 13%). The rate of patients with normalized BP (SBP less than 160 and DBP less than 95 mmHg) were 66% in the labetalol group and 48% in the nifedipine's (p less than 0.05). Treatment withdrawals for all causes during the study were more frequent in the nifedipine group (19%) than in the labetalol's (6%). Treatment withdrawals for adverse events occurred in 3.5% of patients in the labetalol group and in 12% of the nifedipine's. The overall adverse events rate was 9% with labetalol and 29% with nifedipine (p less than 0.001). In this comparative study in elderly hypertensives, labetalol given in a dose titration schedule proved significantly superior to nifedipine, given at recommended maximal dosage, in terms of both BP control and side effects profile.(ABSTRACT TRUNCATED AT 250 WORDS)


Asunto(s)
Hipertensión/tratamiento farmacológico , Labetalol/uso terapéutico , Nifedipino/uso terapéutico , Anciano , Anciano de 80 o más Años , Humanos , Estudios Multicéntricos como Asunto , Ensayos Clínicos Controlados Aleatorios como Asunto , Método Simple Ciego
19.
Rev Med Interne ; 10(2): 107-11, 1989.
Artículo en Francés | MEDLINE | ID: mdl-2740659

RESUMEN

Postpartum thyroiditis. 31 cases. Between 1977 and 1986, 29 women consulted in three internal medicine and endocrinology departments for clinical disorders which could be ascribed to 31 episodes of thyroiditis developed within 9 months of giving birth. Thyroiditis was diagnosed clinically on the basis of acute diffuse (11 cases) or nodular (7 cases) goitre formation, signs of dysthyroidism (16 cases) revealed by menstrual disturbances and/or galactorrhoea (11 cases). A thyrotoxic episode was observed in 9 patients; it was either without sequelae (5 cases) of followed by transient hypothyroidism (4 cases). In other patients transient hypothyroidism was observed in 11 cases and permanent hypothyroidism in 5 cases. Six patients showed no sign of dysthyroidism, and the diagnosis was made by immunological, cytological and/or histological examination of the thyroid gland. Circulating anti-thyroid antibodies were present in two-thirds of the patients. The results of radioisotope scanning varied according to the stage of the disease. In these patients, only the absence of goitre was predictive, in 4 out of 5 cases, of subsequent permanent hypothyroidism; in all other patients the prognosis was highly favourable, even without specific treatment.


Asunto(s)
Trastornos Puerperales/diagnóstico , Tiroiditis Autoinmune/diagnóstico , Adulto , Femenino , Humanos , Embarazo , Trastornos Puerperales/diagnóstico por imagen , Radiografía , Cintigrafía , Estudios Retrospectivos , Tiroiditis Autoinmune/diagnóstico por imagen , Factores de Tiempo
20.
Horm Res ; 32(1-3): 93-6, 1989.
Artículo en Inglés | MEDLINE | ID: mdl-2613194

RESUMEN

622 patients were operated on between 1966 and 1988. Urolithiasis was the most common presenting symptom (26%) but routine measurements of serum calcium led to detect 50% cases. At present, the disease is three times more frequent in women than in men. Estrogenic deprivation, neck irradiation (3.4%) and lithium therapy favor the occurrence of hyperparathyroidism (HPT); frequent association with goiter (19.8%), diabetes (8.3%) and multiple endocrine neoplasia (3.5%) has been noticed. Bone Gla protein concentrations correlate with calcium and HPT blood concentrations but do not reflect the severity of bone damage. Dual photon absorptiometry is now available for quantification and follow-up of bone demineralization, especially in asymptomatic forms of HPT.


Asunto(s)
Hiperparatiroidismo/etiología , Humanos , Hiperparatiroidismo/diagnóstico , Hiperparatiroidismo/fisiopatología
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