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1.
J Endocrinol Invest ; 25(5): 442-6, 2002 May.
Artículo en Inglés | MEDLINE | ID: mdl-12035941

RESUMEN

Despite the observation that parity may increase the risk of thyroid carcinoma, very few studies have investigated the possible repercussion of parity on thyroid benign pathology. Recently, parity has been identified as one of the factors contributing to a larger thyroid size in healthy females. The aim of this work was to investigate a possible role for parity on the prevalence of multinodular goiter in iodine deficient areas. For this purpose, the reproductive histories of 2 cohorts of women, normal (Group I, 235 cases) and non-toxic multinodular goiter (NTMNG) affected (Group II, 274 cases) were compared. All subjects were euthyroid and had no previous history of thyroid function abnormalities. The number of full-term previous pregnancies (2.55+/-0.11 vs 1.77+/-0.10) and age (47.7+/-0.76 vs 42.3+/-0.83 yr) were found significantly higher (p<0.001) in multinodular goiter (MNG) patients than controls. Parity and age were found to be directly correlated (p<0.001), nevertheless the partial correlation coefficients demonstrated an independent and statistically significant difference for both variables between normal and NTMNG. Therefore, the independent effects of parity and age were further investigated. The effect of age on NTMNG prevalence seems to be weaker, in fact significant differences (p<0.001) for age between patients and controls were detected only when the effect of parity was absent (nulliparous), while with increasing gestations the effect of age disappeared. Our results indicate that age plays a minor role compared to parity which can therefore be considered as a stronger risk factor. In conclusion, the present study shows that, at least in iodine deficient regions, non-toxic multinodular goiter women show a statistically significant higher parity rate than healthy controls. Age may play a certain role but only when additional stronger risk factors are absent.


Asunto(s)
Bocio Nodular/epidemiología , Yodo/deficiencia , Paridad , Adulto , Envejecimiento/fisiología , Enfermedades Carenciales/epidemiología , Femenino , Humanos , Italia/epidemiología , Persona de Mediana Edad , Prevalencia , Factores de Riesgo
2.
J Clin Endocrinol Metab ; 85(12): 4534-7, 2000 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11134104

RESUMEN

Among the factors that may influence thyroid size, pregnancy and its goitrogenic effect have been widely investigated, but thyroid volume and pregnancy have never been compared retrospectively, and there are no data on the possible relationship between thyroid size and parity. The purpose of this work was to evaluate the effects of pregnancy on thyroid volume in a moderate iodine deficiency area, to assess the possibility of a relationship between thyroid size and parity status in healthy females. A group of 208 nongoitrous healthy women underwent thyroid volume estimation by ultrasound examination. All subjects were euthyroid and negative for thyroid autoantibodies. They were assigned to different groups, according to the number of completed pregnancies. Five groups were formed (0, 1, 2, 3, 4 or more term pregnancies). Mean thyroid volume increased progressively among the groups: group 0 (14.8 +/- 0.7 mL); group I (16.0 +/- 0.9 mL); group II (17.1 +/- 0.6 mL); group III (18.2 +/- 0.6 mL); group IV (20.3 +/- 0.9 mL). The increment in thyroid volume was statistically significant between group 0 and groups III (P: < 0.01) and IV (P: < 0.001), and also between group I and group IV (P: < 0. 05). No independent effect of body weight and age on thyroid volume was seen. Our results indicate that, in an area with moderate iodine deficiency, the goitrogenic effect of pregnancy is not fully reversible. Moreover, the statistically significant increase in thyroid volume, observed in relation to parity, is the first clinical demonstration of a cumulative goitrogenic effect of successive pregnancies, providing a strong argument to increase the iodine supply during pregnancy, even in conditions with moderate iodine deficiency.


Asunto(s)
Yodo/deficiencia , Paridad/fisiología , Glándula Tiroides/anatomía & histología , Glándula Tiroides/fisiología , Adulto , Envejecimiento/fisiología , Peso Corporal/fisiología , Femenino , Humanos , Embarazo , Glándula Tiroides/diagnóstico por imagen , Tiroxina/sangre , Triyodotironina/sangre , Ultrasonografía
3.
Radiology ; 215(1): 123-8, 2000 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-10751477

RESUMEN

PURPOSE: To evaluate damage to cirrhotic liver tissue after transcatheter arterial chemoembolization (TACE) in patients with hepatocellular carcinoma (HCC). MATERIALS AND METHODS: TACE was performed in 111 patients with HCC that involved less than 30% of the liver. Baseline liver function was evaluated with Child-Pugh scores and other indicators. Eighty-two patients had Child-Pugh class A disease, 27 had class B disease, and two had class C disease. All patients underwent chemotherapy followed by gelatin sponge particle embolization in the proper ("complete" embolization; n = 69) or right or left main ("partial" embolization; n = 42) hepatic artery. Liver function was assessed 4 months later, and 95 patients underwent a second TACE (complete embolization in 57, partial in 38). Liver function was again assessed 4 months later in 60 patients. RESULTS: No patient died. Child-Pugh scores increased in all patients from a mean 5.96 to 6.28 (not significant) and 6.51 (P =. 05) after first and second TACEs, respectively. In patients with class A disease, scores increased from a mean 5.37 to 5.73 (P =.01) and 5.89 (P =.001) after first and second TACEs, respectively; in patients with class B disease, scores changed from a mean of 7.48 to 7.67 and 7.30 after first and second TACEs, respectively (not significant). CONCLUSION: TACE does not induce significant long-term worsening of liver function in patients with class A or B cirrhosis.


Asunto(s)
Carcinoma Hepatocelular/terapia , Quimioembolización Terapéutica , Cirrosis Hepática/complicaciones , Neoplasias Hepáticas/terapia , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Antibióticos Antineoplásicos/administración & dosificación , Cateterismo Periférico , Quimioembolización Terapéutica/instrumentación , Quimioembolización Terapéutica/métodos , Medios de Contraste/administración & dosificación , Doxorrubicina/administración & dosificación , Femenino , Estudios de Seguimiento , Esponja de Gelatina Absorbible/administración & dosificación , Hemostáticos/administración & dosificación , Arteria Hepática , Humanos , Aceite Yodado/administración & dosificación , Yopamidol/administración & dosificación , Hígado/efectos de los fármacos , Hígado/patología , Hígado/fisiopatología , Cirrosis Hepática/clasificación , Cirrosis Hepática/fisiopatología , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Inducción de Remisión , Retratamiento
5.
Cardiovasc Intervent Radiol ; 22(1): 74-8, 1999 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-9929551

RESUMEN

We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography.


Asunto(s)
Arteria Carótida Interna/anomalías , Trastornos Cerebrovasculares/diagnóstico , Aneurisma Intracraneal/diagnóstico , Adulto , Anciano , Arteria Carótida Interna/diagnóstico por imagen , Trastornos Cerebrovasculares/terapia , Diagnóstico Diferencial , Femenino , Humanos , Aneurisma Intracraneal/cirugía , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X
7.
Radiol Med ; 95(3): 170-3, 1998 Mar.
Artículo en Italiano | MEDLINE | ID: mdl-9638160

RESUMEN

PURPOSE: To evaluate the comparative sensitivity, specificity and diagnostic accuracy of contrast enhanced magnetic resonance angiography (CE MRA) and digital subtraction angiography (DSA) in the study of carotid bifurcation stenoses. MATERIAL AND METHODS: Twenty-three patients with suspected cerebrovascular insufficiency by carotid stenosis were examined with CE MRA and DSA within 24 hours of each other. A 1.5 superconductive unit (Signa, General Electric) was used for CE MRA; fast spoiled gradient echo recalled (SPGR) images were acquired on the coronal plane 12 s after contrast medium injection, with the following parameters: TR/TE/FA 8/1/60, MA 256 x 128, NEX 1, FOV 18 x 13, slices/slab 28, slice thickness 1 mm, TA 32 s. The images were postprocessed with the maximum intensity projection (MIP) and the targeted MIP algorithms. A Siemens Politron 1000 VR unit was used for DSA examinations. RESULTS: DSA diagnosed 21 true positives, namely 4 grade II, 4 grade III, 10 grade IV and 3 grade V stenoses. CE MRA scored 100% in stenosis identification and grading, accurately diagnosing all the true negatives and the true positives and was always in agreement with DSA as to stenosis site. CONCLUSION: CE MRA can be considered the technique of choice to study stenosis occlusion in the epiaortic vessels, because it permits a rapid panoramic study of the neck vessels and accurate stenosis grading with similar patterns to those of DSA. Thus, CE MRA appears to be a valid alternative to DSA.


Asunto(s)
Angiografía de Substracción Digital , Estenosis Carotídea/diagnóstico , Angiografía por Resonancia Magnética , Anciano , Medios de Contraste , Femenino , Humanos , Angiografía por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
8.
Cardiovasc Intervent Radiol ; 20(1): 23-8, 1997.
Artículo en Inglés | MEDLINE | ID: mdl-8994720

RESUMEN

PURPOSE: The comparative efficacy of transcatheter arterial chemoembolization (TACE) and percutaneous ethanol injection (PEI) in the treatment of hepatocellular carcinoma (HCC) was investigated. METHODS: Two hundred and sixty consecutive patients were retrospectively analyzed: 156 had received between one and six chemoembolization sessions at 3-month intervals, 33 had had PEI, and the remaining 71 patients refused any treatment. The follow-up ranged from 3 to 36 months. Survival rates were statistically analyzed by life-table analysis. RESULTS: Patients' survival was affected by the number of nodules and by the Child's and Okuda's classes; no relationship was found between survival rates and the histologic grade or vascular supply of the tumor. In the case of a single lesion of Okuda's class I, TACE was more effective than PEI. In multifocal HCC, TACE was better than no treatment in Okuda's class I and Child's class A. CONCLUSION: We suggest TACE as the treatment of choice in Child A or Okuda I patients with multifocal HCCs; it seems of little help in Child B-C or Okuda II-III patients.


Asunto(s)
Carcinoma Hepatocelular/terapia , Quimioembolización Terapéutica/métodos , Etanol/administración & dosificación , Neoplasias Hepáticas/terapia , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma Hepatocelular/mortalidad , Femenino , Estudios de Seguimiento , Humanos , Neoplasias Hepáticas/mortalidad , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del Tratamiento
9.
Minerva Med ; 88(1-2): 31-8, 1997.
Artículo en Italiano | MEDLINE | ID: mdl-9132629

RESUMEN

There are numerous clinical situations in which interventional angiography fully reveals its two-fold diagnostic and therapeutic value. The present review focuses attention on the use of such procedures in certain thoracic emergencies. Indications, diagnostic results and therapeutic advantages are examined together with possible complications. Pulmonary embolism is a serious circulatory condition that is often difficult to diagnose because of the lack of specificity of its accompanying symptoms. In these cases the role of the angiographic radiologist is often three-fold: diagnosis, therapy (possibility of carrying out locoregional thrombolysis), and prophylaxis (positioning of caval filters that prevent the migration of thrombi). Haemoptysis may arise from both the pulmonary and bronchial vessels and may be caused by various pathologies (cancer, angiodysplasia, vasculitis, aspergillosis). Angiographic study in such cases is indispensable for identifying the source of bleeding and for arresting, using embolising material, haemorrhage that it is no longer possible to control with other therapeutic modalities. Foreign bodies held in the vascular tree are in the main fragments of catheters detached accidentally or as a result of incorrect manoeuvres or for defects of construction of the material. Their removal is possible today by using, percutaneously, angiographic techniques (snare loop, basket, hook system, balloon catheters) which make it possible to hook up the fragment and remove it.


Asunto(s)
Vasos Sanguíneos , Cuerpos Extraños/diagnóstico por imagen , Hemoptisis/diagnóstico por imagen , Embolia Pulmonar/diagnóstico por imagen , Radiología Intervencionista , Algoritmos , Urgencias Médicas , Humanos , Radiografía
10.
Sleep ; 18(5): 317-24, 1995 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-7676163

RESUMEN

Chronic total sleep deprivation (TSD) in the rat produces an initial elevation and then declining body temperatures, increasing metabolic rate and eventual death. Because TSD rats will engage in warming behavior, one hypothesis is that the metabolic increase is an unsuccessful attempt at warming to combat a lethal hypothermia. However, TSD rats also undergo weight loss and progressive deterioration of skin and fur, suggesting TSD-induced pathological catabolic activity, possibly secondary to increased metabolic rate, that could be lethal. To evaluate these alternatives, the metabolic rate of rats was increased by thyroxine (T4) treatment while subjecting them to TSD. Compared to TSD rats not given T4, they had higher metabolic rates, higher body temperatures and reduced warming behavior, but their survival period was 37% shorter. Thus, it is unlikely that hypothermia is the cause of death in TSD rats. Weight and appearance declined more rapidly in T4-treated rats, but at the same proportions of survival time, skin pathology and decline in appearance were less evident in T4-treated rats than in TSD rats not given T4. Thus, there is some doubt whether a general pathological catabolic process is the cause of death. It is also possible that a specific morbid process normally reversed by sleep was accelerated by T4 administration.


Asunto(s)
Ratas Sprague-Dawley , Privación de Sueño , Tiroxina/farmacología , Animales , Conducta Animal/efectos de los fármacos , Temperatura Corporal/efectos de los fármacos , Peso Corporal/efectos de los fármacos , Electroencefalografía , Electromiografía , Conducta Alimentaria/efectos de los fármacos , Masculino , Ratas , Sueño/efectos de los fármacos , Sueño REM/efectos de los fármacos , Pérdida de Peso
11.
Radiol Med ; 88(6): 821-6, 1994 Dec.
Artículo en Italiano | MEDLINE | ID: mdl-7878242

RESUMEN

The comparative efficacy of transcatheter arterial chemoembolization and percutaneous ethanol injection (PEI) in the treatment of hepatocellular carcinoma (HCC) was investigated in a series of 243 consecutive patients: 146 of them were submitted to 1-6 chemoembolization sessions at 1 and 3 months' intervals and 30 to PEI; the remaining 67 patients refused any treatment. The follow-up ranged 3 to 36 months. Survival rates were statistically analyzed with the life table analysis. Patients' survival was affected by the number of nodules and by Child's and Okuda's classes; no relationship was found between survival rates and histologic grade or nodule vascular feeding. In case of single lesions, chemoembolization was more effective than PEI in Okuda's class I. In case of multifocal HCC, chemoembolization was better than no treatment in Okuda's class I and Child's class A. In conclusion, we suggest chemoembolization as the treatment of choice in Child A or Okuda I patients with multifocal HCCs, while its use seems of little help in Child B-C or Okuda II-III patients. In case of unifocal HCC, PEI or surgical resection should be combined with chemoembolization.


Asunto(s)
Carcinoma Hepatocelular/terapia , Quimioembolización Terapéutica , Etanol/administración & dosificación , Neoplasias Hepáticas/terapia , Adulto , Anciano , Anciano de 80 o más Años , Antineoplásicos/administración & dosificación , Carcinoma Hepatocelular/tratamiento farmacológico , Carcinoma Hepatocelular/patología , Femenino , Estudios de Seguimiento , Humanos , Aceite Yodado/administración & dosificación , Tablas de Vida , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Tiempo
13.
Radiol Med ; 86(4): 478-83, 1993 Oct.
Artículo en Italiano | MEDLINE | ID: mdl-8248585

RESUMEN

The diagnostic and therapeutic approach by means of transcatheter arterial chemoembolization is analyzed in 100 patients affected with hepatocellular carcinoma (HCC): in all patients the HCC had been diagnosed by means of US-guided fine-needle biopsy: 75 of 100 patients were in Child A class, 24 in Child B and 1 in Child C class. The most sensitive imaging technique to identify HCC proved to be angiography (95%); post-Lipiodol CT was also of great value to stage the disease. The authors suggest a diagnostic-therapeutic approach including angiography and simultaneous chemoembolization right after US-guided biopsy, avoiding conventional CT; such a protocol allows high diagnostic accuracy at a lower cost. Chemoembolization proved to be a safe technique, with a low incidence of mortality and complications; the latter were easy to treat by medical therapy. The follow-up data relative to 39 of 100 patients who underwent 2 or more chemoembolization treatments prove the latter to be a valuable technique relative to both the evolution of HCC nodules (in 18/21 patients with single lesions and in 9/18 patients with multiple lesions, lesion size was unchanged or decreased) and to survival rates (70% in 65 patients followed-up 1 year at least); on the whole, 77 of 100 patients are still alive.


Asunto(s)
Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/terapia , Quimioembolización Terapéutica , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/terapia , Reacciones Falso Negativas , Femenino , Estudios de Seguimiento , Humanos , Masculino , Sensibilidad y Especificidad , Tasa de Supervivencia , Tomografía Computarizada por Rayos X
14.
Radiol Med ; 86(3): 302-7, 1993 Sep.
Artículo en Italiano | MEDLINE | ID: mdl-8210540

RESUMEN

Percutaneous transluminal angioplasty (PTA) is commonly used to treat peripheral vascular diseases, but its use has recently spread to the treatment of stenotic lesions involving the supra-aortic vessels. The authors report their initial experience in 10 patients with left subclavian artery stenoses--8 of them treated with PTA and 2 with PTA and vascular stenting--and two more patients with fibromuscular stenosis of the internal carotid artery (ICA), which was treated by means of PTA. In the authors' opinion, PTA can be considered the procedure of choice to treat the stenotic lesions of the supra-aortic vessels. Intravascular stents can be extremely useful to prevent post-PTA restenosis, but further experience and probably further technological refinements are needed. To conclude, PTA of ICA is an effective method in selected cases--e.g., in the patients with symptomatic hemodynamic lesions and low risk of embolism, in the patients with difficult surgical access or in the event of high anesthesiological and/or surgical morbidity.


Asunto(s)
Angioplastia Coronaria con Balón , Arteriopatías Oclusivas/terapia , Estenosis Carotídea/terapia , Arteria Subclavia , Adulto , Anciano , Angioplastia Coronaria con Balón/efectos adversos , Angioplastia Coronaria con Balón/métodos , Arteriopatías Oclusivas/diagnóstico por imagen , Arteria Carótida Interna/diagnóstico por imagen , Estenosis Carotídea/diagnóstico por imagen , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Radiografía , Stents , Arteria Subclavia/diagnóstico por imagen
18.
J Endocrinol Invest ; 15(6): 453-7, 1992 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-1401748

RESUMEN

We have evaluated baseline and l-dopa-stimulated peripheral growth hormone releasing hormone (pGHRH) secretion in 6 obese pre-pubertal children and in 7 age-matched controls. Baseline pGHRH levels were no different between obese (36.6 +/- 9.8 pg/ml, mean +/- SE) and control children (40.6 +/- 10.1 pg/ml). Administration of l-dopa (500 mg po) caused a significant increase of pGHRH levels in both the obese (65.3 +/- 19.8 pg/ml, p less than 0.05) and the control children (84.1 +/- 10.0 pg/ml, p less than 0.003). Mean peak pGHRH levels after l-dopa were not significantly different between the two groups, whereas mean peak GH levels were significantly lower (p less than 0.05) in the obese (7.9 +/- 1.9 ng/ml) than in the control children (20.5 +/- 4.9 ng/ml). We conclude that despite reduced GH secretion, obese children have normal baseline and l-dopa stimulated pGHRH levels.


Asunto(s)
Hormona Liberadora de Hormona del Crecimiento/metabolismo , Obesidad/fisiopatología , Niño , Femenino , Hormona del Crecimiento/sangre , Humanos , Levodopa , Masculino
19.
J Endocrinol Invest ; 14(10): 847-51, 1991 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-1687043

RESUMEN

To evaluate the long-term efficacy of sodium ipodate (IPO) in the treatment of hyperthyroid Graves' disease, we studied 12 consecutive patients with Graves' hyperthyroidism treated only with 500 mg IPO po daily for several weeks to 22 months. Serum thyroid hormone concentrations markedly decreased and serum free T3 values normalized in all patients within 7 days of therapy. Five patients (42%, Group 1) were euthyroid after 6 weeks of IPO treatment and remained so until IPO was discontinued after 22 months. Recurrence of hyperthyroidism after drug withdrawal occurred in only one of these Group 1 patients, who was promptly responsive to a second course of IPO. In contrast, seven of 12 patients (58%, Group 2) relapsed with recurrent hyperthyroidism between 14 and 42 days of IPO therapy. After IPO was withdrawn, these Group 2 patients were treated with methimazole (20-30 mg/day, initial dose), but the therapeutic response was poor and delayed. Two patients were still hyperthyroid after 6 months of methimazole treatment. Elevated serum FT3 concentrations were observed in the Group 2 patients at 21 days following the early normalization of serum FT3 concentrations. No changes in serum thyroglobulin and thyroid microsomal and TSH-receptor autoantibody titers were observed in either groups during IPO therapy. In conclusion, the results of the present study demonstrate that IPO rapidly restores euthyroidism, but its prolonged administration is associated with a high rate of relapse of hyperthyroidism and a poor response to subsequent methimazole treatment and that long-term IPO administration does not affect humoral markers of thyroid autoimmunity.


Asunto(s)
Enfermedad de Graves/tratamiento farmacológico , Ipodato/uso terapéutico , Adolescente , Adulto , Anciano , Análisis de Varianza , Autoanticuerpos/sangre , Femenino , Humanos , Inmunoglobulinas Estimulantes de la Tiroides , Estudios Longitudinales , Masculino , Metimazol/uso terapéutico , Persona de Mediana Edad , Recurrencia , Tiroglobulina/sangre , Glándula Tiroides/efectos de los fármacos , Glándula Tiroides/inmunología , Glándula Tiroides/metabolismo , Tirotropina/sangre , Tiroxina/sangre , Triyodotironina/sangre
20.
J Clin Invest ; 87(2): 496-502, 1991 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-1991834

RESUMEN

Generalized resistance to thyroid hormone (GRTH) is a syndrome characterized by impaired tissue responsiveness to thyroid hormone. Two distinct point mutations in the hormone binding domain of the thyroid hormone receptor (TR) beta have recently been identified in two unrelated families with GRTH. One, Mf, involves a replacement of the normal glycine-345 for arginine in exon 7 and another, Mh, replaces the normal proline-453 for histidine in exon 8. To probe for the presence of the Mf and Mh defect in 19 unrelated families with GRTH, we applied separate polymerase chain reactions using allele-specific oligonucleotide primers containing the normal and each of the two mutant nucleotides at the 3'-position. A total of 24 affected subjects and 13 normal family members were studied. The mode of inheritance was dominant in 13 families, was unknown in 5 families, and was clearly recessive in 1 family in which only the consanguineous subjects were affected. Primers containing the substitutions specific for Mf and Mh amplified exons 7 and 8, respectively, only in affected members of each of the two index families. Primers containing the normal sequences amplified exons 7 and 8 of the TR beta gene in all subjects except affected members of one family. In this family with recessively inherited GRTH, neither exon could be amplified using any combinations of primers and DNA blot revealed absence of all coding exons. These results indicate a major deletion of the TR beta gene, including both DNA and hormone binding domains. Since heterozygous members of this family are not affected, the presence of a single normal allele is sufficient for normal function of the TR beta. These data also support the hypothesis that in the dominant mode of GRTH inheritance the presence of an abnormal TR beta interferes with the function of the normal TR beta. Distinct mutations are probably responsible for GRTH in unrelated families.


Asunto(s)
Mutación , Receptores de Hormona Tiroidea/genética , Hormonas Tiroideas/farmacología , Alelos , Secuencia de Bases , Southern Blotting , ADN/genética , Humanos , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Síndrome
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