Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 21
Filter
1.
Int J Cancer ; 2024 Sep 09.
Article in English | MEDLINE | ID: mdl-39251783

ABSTRACT

The genetic basis of nonsyndromic familial nonmedullary thyroid carcinoma (FNMTC) is still poorly understood, as the susceptibility genes identified so far only account for a small percentage of the genetic burden. Recently, germline mutations in DNA repair-related genes have been reported in cases with thyroid cancer. In order to clarify the genetic basis of FNMTC, 94 genes involved in hereditary cancer predisposition, including DNA repair genes, were analyzed in 48 probands from FNMTC families, through targeted next-generation sequencing (NGS). Genetic variants were selected upon bioinformatics analysis and in silico studies. Structural modeling and network analysis were also performed. In silico results of NGS data unveiled likely pathogenic germline variants in 15 families with FNMTC, in genes encoding proteins involved in DNA repair (ATM, CHEK2, ERCC2, BRCA2, ERCC4, FANCA, FANCD2, FANCF, and PALB2) and in the DICER1, FLCN, PTCH1, BUB1B, and RHBDF2 genes. Structural modeling predicted that most missense variants resulted in the disruption of networks of interactions between residues, with implications for local secondary and tertiary structure elements. Functional annotation and network analyses showed that the involved DNA repair proteins functionally interact with each other, within the same DNA repair pathway and across different pathways. MAPK activation was a common event in tumor progression. This study supports that rare germline variants in DNA repair genes may be accountable for FNMTC susceptibility, with potential future utility in patients' clinical management, and reinforces the relevance of DICER1 in disease etiology.

2.
Diabetol Int ; 15(3): 550-561, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39101166

ABSTRACT

Objective: Hypoglycemia constitutes a communication barrier between youth with type 1 diabetes, their family members and health professionals. A narrative tool may contribute to a more effective communication. Methods: Semi-structured interviews with six open-ended questions using narrative techniques collect and analyze (thematic and comparative analysis) different ways of "naming" the lived experience of hypoglycemia. Results: 103 participants, 40 with type 1 Diabetes aged 10-18 years (17 female), 63 relatives (40 female). Group 1 (G1), 10-14 years old (n = 21), Group 2 (G2), 15-18 years old (n = 19), Group 3 (G3) relatives, 30-59 years old. G3 was divided, G3.1: female (n = 42) and G3.2: male (n = 21).G1 and G2 presents greater attention to symptoms. G1 refers a greater need for help, G2 emphasizes autonomy. G2 and G3 describes better the medical protocol. G1 and G2 refer more topics such as "discomfort", "frustration", "obligation", "difficulty in verbalizing", G3 refers to "gilt", "fear" and "responsibility". G3.1 refer more "symptoms", "responsibility", "fault", "incapacity". Conclusions: A narrative tool enhances the singularity of a common experience, proving itself useful to adolescents, relatives, and healthcare professionals. Practice implications: In addition to gathering information that is usually acquired empirically, a narrative tool exposes knowledge gaps and may allow implementing intervention strategies.

3.
Article in English | MEDLINE | ID: mdl-39012306

ABSTRACT

BACKGROUND: Overweight and obesity are major public health issues with increasing incidence and prevalence, affecting more than 50% of the population in developed countries. Due to its complex pathophysiology and multifactorial etiology, disease understanding, diagnostic approach and management remain suboptimal. Together with a structured nutritional intervention and physical activity plan, pharmacological treatment has the potential to magnify weight loss and health related benefits. Liraglutide is one of the most effective and frequently prescribed weight loss medication. Its efficacy and safety have been demonstrated in randomized clinical trials, however, real world data in Portugal is scarce. The authors report on the experience of a University Hospital Endocrine Clinic in the management of patients with overweight and obesity with liraglutide on top of lifestyle intervention. The aim of the study was to evaluate the effectiveness of liraglutide in the management of overweight and obesity. METHODS: Retrospective, longitudinal observational study. Inclusion criteria were adult patients (>18 years old) with obesity (BMI>30 kg/m2) or overweight (≥27 kg/m2) with at least one obesity related co-morbidity (hypertension, dyslipidemia, obstructive sleep apnea, non-alcoholic fatty liver disease) with at least three months of liraglutide treatment. Diabetes diagnosis and prior bariatric surgery were exclusion criteria. Demographic and clinical variables were included and weight was recorded before and after at least 3 months of liraglutide treatment. RESULTS: One hundred forty-eight patients (85.8% females) with a mean age of 48.7±11.9 years were treated with liraglutide. Mean baseline BMI was 33.8±5.2 kg/m2 and median follow-up was 13 months. At the last appointment, 85.8% were still taking liraglutide. Among patients still taking liraglutide, mean weight loss was 7.6 kg (7.9%), with significantly greater losses in patients treated for more than 6 months (8.6kg vs. 6.2 kg, P=0.016). Patients with obesity lost significantly more weight than overweight patients (8.3 kg vs. 4.5 kg, P=0.028), despite similar treatment duration. The reasons for liraglutide withdrawal were gastrointestinal intolerance (7), medication cost (2), inefficacy (10) and physician instructions (1). CONCLUSIONS: The present study documents the long-term efficacy of liraglutide in the treatment of patients with overweight and obesity, with a low rate of drug withdrawal. Mean weight loss was significant and more evident from the 6th month of treatment on. Liraglutide, along with lifestyle intervention, is a good option for weight management in the majority of patients with obesity.

4.
Eur J Case Rep Intern Med ; 11(3): 004286, 2024.
Article in English | MEDLINE | ID: mdl-38455688

ABSTRACT

Immunoglobulin heavy chain amyloidosis (AH amyloidosis) is an extremely rare subtype of immunoglobulin-derived amyloidosis and there is limited literature on how to diagnose and manage this disorder. We describe a rare case of AH amyloidosis with amyloid goitre and the importance of mass spectrometry in the identification of the different types of amyloids. While additional studies are needed, several observations suggest important practical implications, including differences in clinical picture, prognosis, and pathologic diagnosis. LEARNING POINTS: Immunoglobulin heavy chain amyloidosis is an extremely rare subtype of immunoglobulin-derived amyloidosis and amyloid goitre is even rarer.There is limited literature on how to diagnose and manage this disorder.This case portrays one of these cases - one of the few existing in the literature - and reinforces the diagnostic complexity of this entity.

5.
Rev. int. androl. (Internet) ; 21(4): 1-6, oct.-dic. 2023. tab
Article in English | IBECS | ID: ibc-225998

ABSTRACT

Introduction: The sexual life of a couple is a dynamic entity, in which the two influence each other mutually, thus the existence of female sexual dysfunction (FSD) can influence the treatment of the man who seeks clinical help. Identify sexual dysfunction in female partners of patients attending an andrology clinic may provide a therapeutic opportunity. The authors aim to assess proportion of FSD in this population by comparison with a control group. Material and methods: A longitudinal study over 12 months timespan. The female partners of patients attending the andrology clinic participating in the study (study group – SG) completed the Female Sexual Function Index (FSFI), as did the women serving as controls (control group – CG). Further data such as age, duration and quality of the relationship and previous relationships was also collected. Results: Of the 30 women included in the SG, 14 (46.6%) considered that their current sex life was worse than in previous relationships. Of the 20 women in the CG, 60% considered that their current sex life was better. In the SG, 22 (73.3%) had FSD, with a mean score in the FSFI of 20.5, whereas only 3 women in the CG (15%) had FSD, with a mean score of 30.7 (p<0.01). Conclusions: Our study demonstrated that the proportion of FSD in female partners of patients attending an andrology clinic is significantly higher than control group. FSD treatment should be considered as a therapeutic opportunity for the couple in this setting. (AU)


Introducción: La vida sexual de una pareja es una entidad dinámica, en la que ambos se influyen mutuamente, por lo que la existencia de disfunción sexual femenina (DSF) puede influir en el tratamiento del hombre que busca ayuda clínica. Identificar la disfunción sexual en las parejas femeninas de los pacientes que asisten a una Clínica de Andrología puede brindar una oportunidad terapéutica. Los autores pretenden evaluar la proporción de DSF en esta población comparándola con un grupo de control. Material y métodos: Estudio longitudinal durante 12 meses. Las parejas femeninas de los pacientes que asistieron a la Clínica de Andrología y que participaron en el estudio (grupo de estudio) completaron el Índice de Función Sexual Femenina, de la misma forma que las mujeres, que sirvieron como control (grupo de control). También se recopilaron datos adicionales como edad, duración, calidad de la relación y las relaciones entre los anteriores. Resultados: De las 30 mujeres incluidas en el grupo de estudio, 14 (46,6%) consideraron que su vida sexual actual era peor que en relaciones anteriores. De las 20 mujeres del grupo control, el 60% consideró que su vida sexual actual era mejor. En el grupo de estudio, 22 (73,3%) tenían DSF, con una puntuación media de Índice de Función Sexual Femenina de 20,5, mientras que solo 3 mujeres en el grupo control (15%) tenían DSF, con una puntuación media de 30,7 (p <0,01). Conclusiones: Nuestro estudio demostró que la proporción de DSF en parejas femeninas de pacientes que acuden a una Clínica de Andrología es significativamente mayor que en el grupo control. El tratamiento de la disfunción sexual femenina debe considerarse como una oportunidad terapéutica para la pareja en este escenario. (AU)


Subject(s)
Humans , Female , Young Adult , Adult , Middle Aged , Andrology , Sexual Dysfunction, Physiological/therapy , Surveys and Questionnaires , Longitudinal Studies , Sexual Behavior , Quality of Life
6.
Rev Int Androl ; 21(4): 100369, 2023.
Article in English | MEDLINE | ID: mdl-37478725

ABSTRACT

INTRODUCTION: The sexual life of a couple is a dynamic entity, in which the two influence each other mutually, thus the existence of female sexual dysfunction (FSD) can influence the treatment of the man who seeks clinical help. Identify sexual dysfunction in female partners of patients attending an andrology clinic may provide a therapeutic opportunity. The authors aim to assess proportion of FSD in this population by comparison with a control group. MATERIAL AND METHODS: A longitudinal study over 12 months timespan. The female partners of patients attending the andrology clinic participating in the study (study group - SG) completed the Female Sexual Function Index (FSFI), as did the women serving as controls (control group - CG). Further data such as age, duration and quality of the relationship and previous relationships was also collected. RESULTS: Of the 30 women included in the SG, 14 (46.6%) considered that their current sex life was worse than in previous relationships. Of the 20 women in the CG, 60% considered that their current sex life was better. In the SG, 22 (73.3%) had FSD, with a mean score in the FSFI of 20.5, whereas only 3 women in the CG (15%) had FSD, with a mean score of 30.7 (p<0.01). CONCLUSIONS: Our study demonstrated that the proportion of FSD in female partners of patients attending an andrology clinic is significantly higher than control group. FSD treatment should be considered as a therapeutic opportunity for the couple in this setting.

7.
BMC Endocr Disord ; 23(1): 68, 2023 Mar 27.
Article in English | MEDLINE | ID: mdl-36973824

ABSTRACT

BACKGROUND: Acromegaly diagnosis is established when plasma levels of IGF-1 are increased and the Oral Glucose Tolerance Test (OGTT) with 75gr of glucose can't suppress Growth Hormone (GH) levels. These two parameters are also useful during follow-up, after surgical/radiologic therapy and/or during medical therapy. CASE PRESENTATION: A 29-year-old woman was diagnosed with acromegaly after a severe headache. Previous amenorrhea and facial and acral changes were noticed. A pituitary macroadenoma was found, biochemical evaluation was in agreement with the suspected acromegaly and a transsphenoidal adenectomy was performed. As the disease recurred, a surgical reintervention and radiosurgery (Gamma Knife, 22 Gy) were necessary. No normalization of IGF-1 was achieved during three years after radiosurgery. Surprisingly, then, and although clinical features seemed getting worse, IGF-1 levels became consistently controlled to 0.3-0.8 times the upper limit of the reference range. Questioned, the patient referred that she was following an intermittent fasting dietary plan. However, based on the dietary questionnaire, she was found to be under severe caloric restriction. First OGTT (under caloric restriction) showed absence of GH suppression and an IGF-1 value of 234 ng/dL (Reference Range 76-286 ng/mL). A second OGTT, one month after an eucaloric diet was instituted, showed an increased IGF-1 of 294 ng/dL, maintaining an unsuppressed, yet less elevated, GH. CONCLUSIONS: GHRH/GH/IGF-1 axis controls somatic growth. Regulation is complex, and nutrition status and feeding pattern have a recognized role. Like systemic inflammation or chronic liver disease, fasting and malnutrition decrease the expression of hepatic GH receptors, with consequent reduction of IGF-1 levels, through resistance to GH. This clinical report shows that caloric restriction may represent a pitfall in acromegaly follow-up.


Subject(s)
Adenoma , Caloric Restriction , Growth Hormone-Secreting Pituitary Adenoma , Adult , Female , Humans , Acromegaly/blood , Acromegaly/diagnosis , Acromegaly/surgery , Caloric Restriction/adverse effects , Caloric Restriction/methods , Follow-Up Studies , Human Growth Hormone/blood , Insulin-Like Growth Factor I/analysis , Neoplasm Recurrence, Local/blood , Neoplasm Recurrence, Local/etiology , Growth Hormone-Secreting Pituitary Adenoma/blood , Growth Hormone-Secreting Pituitary Adenoma/diagnosis , Growth Hormone-Secreting Pituitary Adenoma/surgery , Adenoma/blood , Adenoma/diagnosis , Adenoma/surgery , Reoperation , Radiosurgery/methods
8.
Rev Port Cardiol ; 42(4): 319-330, 2023 04.
Article in English, Portuguese | MEDLINE | ID: mdl-36634764

ABSTRACT

INTRODUCTION AND OBJECTIVES: Portugal is a country with a high prevalence of type 2 diabetes (T2D) and cardiovascular disease (CVD). The prevalence of CVD and cardiovascular (CV) risk factors among T2D patients followed in hospitals in Portugal is not known. The primary objective of this study was to assess the prevalence of CVD and CV risk factors among T2D patients in a hospital setting in Portugal. The clinical management of CVD in the hospital setting was also assessed. METHODS: We performed a non-interventional, multicenter, cross-sectional study with a retrospective phase. T2D patients were consecutively invited to participate. Data were collected retrospectively. RESULTS: A total of 715 patients were included in the study. Mean age and diabetes duration were 66.6 and 17.4 years, respectively. Of these, 286 patients (40.0%) had been diagnosed with CVD, mostly ischemic heart disease (50.4%). All patients had at least one CV risk factor. CVD was significantly associated with hypertension, hypercholesterolemia, low high-density lipoprotein cholesterol, hypertriglyceridemia and smoking. During the three years prior to study inclusion, the incidence of hyperglycemic episodes and T2D complications increased among patients with established CVD, but the numbers of hospitalization episodes and specialist appointments remained stable. An improvement was observed in key cardiometabolic risk factors. CONCLUSIONS: Our study revealed a high prevalence of CVD and CV risk factors among a sample of T2D patients in a hospital setting. Patients with established CVD seem to be adequately managed but further efforts are needed at the prevention stage for better control of risk factors and morbidity.


Subject(s)
Cardiovascular Diseases , Diabetes Mellitus, Type 2 , Humans , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/epidemiology , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/etiology , Cardiovascular Diseases/prevention & control , Retrospective Studies , Prevalence , Portugal/epidemiology , Cross-Sectional Studies , Risk Factors , Hospitals
9.
Sensors (Basel) ; 22(4)2022 Feb 09.
Article in English | MEDLINE | ID: mdl-35214208

ABSTRACT

Wireless networks beyond 5G will mostly be serving myriads of sensors and other machine-type communications (MTC), with each device having different requirements in respect to latency, error rate, energy consumption, spectral efficiency or other specifications. Multiple-input multiple-output (MIMO) systems remain a central technology towards 6G, and in cases where massive antenna arrays or cell-free networks are not possible to deploy and only moderately large antenna arrays are allowed, the detection problem at the base-station cannot rely on zero-forcing or matched filters and more complex detection schemes have to be used. The main challenge is to find low complexity, hardware feasible methods that are able to attain near optimal performance. Randomized algorithms based on Gibbs sampling (GS) were proven to perform very close to the optimal detection, even for moderately large antenna arrays, while yielding an acceptable number of operations. However, their performance is highly dependent on the chosen "temperature" parameter (TP). In this paper, we propose and study an optimized variant of the GS method, denoted by triple mixed GS, and where three distinct values for the TP are considered. The method exhibits faster convergence rates than the existing ones in the literature, hence requiring fewer iterations to achieve a target bit error rate. The proposed detector is suitable for symmetric large MIMO systems, however the proposed fixed complexity detector is highly suitable to spectrally efficient adaptively modulated MIMO (AM-MIMO) systems where different types of devices upload information at different bit rates or have different requirements regarding spectral efficiency. The proposed receiver is shown to attain quasi-optimal performance in both scenarios.


Subject(s)
Algorithms , Communication
11.
Can J Diabetes ; 44(3): 253-260, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31585794

ABSTRACT

OBJECTIVES: Group care for individuals with diabetes is a recognized educational practice, but techniques from narrative medicine using of literary works have never been incorporated in these programs. We designed a new educational model (i.e. the Close Reading and Creative Writing program) of group care for individuals with diabetes incorporating close reading and creative writing in group education. A randomized trial was designed to evaluate this intervention. METHODS: A total of 49 individuals with type 2 diabetes, aged <85 years and with >6 years of school education, were randomized to 2 different group care dynamics: (a) a "control group," with a classical structured educational approach currently used at our institution; and (b) an "intervention group," with introduction of literary texts, narrative skills, close reading and creative writing. Evaluation included anthropometric measures, glycated hemoglobin (A1C) and questionnaires for psychological evaluation. Individual A1C levels in the 6-year period before the trial were collected from clinical records. RESULTS: A significant reduction of A1C was observed in the intervention group, showing noninferiority in relation to the classical approach. A significant decrease in A1C was observed in relation to the 6 previous years. A significant increase in satisfaction with the therapist and group process was observed. CONCLUSIONS: This is the first randomized trial designed to evaluate a group care intervention to manage type 2 diabetes using narrative techniques. The results suggest that this may be a useful model for more highly schooled individuals, and may represent an alternative for the educational process.


Subject(s)
Creativity , Diabetes Mellitus, Type 2/therapy , Patient Education as Topic , Writing , Adult , Aged , Aged, 80 and over , Body Mass Index , Educational Status , Female , Glycated Hemoglobin/analysis , Humans , Male , Middle Aged , Patient Satisfaction , Psychotherapists , Psychotherapy/methods , Treatment Outcome
13.
Mil Med ; 183(suppl_1): 189-192, 2018 03 01.
Article in English | MEDLINE | ID: mdl-29635547

ABSTRACT

Overseas contingency operations which occur in areas lacking medical infrastructure pose challenges to the stabilization and transportation of critically ill patients. In particular, metabolic derangements resulting from acute kidney injury (AKI) make long-distance aeromedical evacuation risky. Here, we report the first modern use of in-flight continuous veno-venous hemofiltration (CVVH) for intercontinental aeromedical evacuation. Hospital and transport records were reviewed for a 31-yr-old male active duty service member who sustained 40% total body surface area full thickness burns after high-voltage electrical exposure in the southern Philippines. He was evacuated to the Burns Centre at Singapore General Hospital, where CVVH was initiated for anuric AKI secondary to rhabdomyolysis. The United States Army Institute of Surgical Research (USAISR) Burn Flight Team transported the patient to the USAISR Burn Center at Fort Sam Houston, TX, USA. CVVH was performed in-flight for 15 h out of 19.5 h of total flight time. CVVH settings were maintained as follows: blood flow 250 mL/min; replacement fluid rate 3,500 mL/h; and no ultra-filtrate removal. Unfractionated heparin at 500 units/h was utilized for regional anticoagulation. No filter clotting was encountered; a planned filter change was performed during a midway refueling stop. Pre-flight hyperkalemia was managed with low-potassium replacement fluid. No fluid was removed in the setting of large wound insensible losses. The patient remained hemodynamically stable and required no vasoactive medications. Continuous veno-venous hemofiltration can be used safely during high-altitude flight to evacuate casualties with AKI from distant contingency operations. The use of portable hemodialysis equipment in this case also proves the feasibility of deploying renal replacement therapies to more forward facilities than previously considered.


Subject(s)
Air Ambulances/standards , Hemofiltration/instrumentation , Hemofiltration/methods , Acute Kidney Injury/therapy , Adult , Burns/complications , Burns/therapy , Electric Injuries/complications , Electric Injuries/therapy , Equipment Design/standards , Humans , Internationality , Male , Military Personnel , Patient Transfer/methods
15.
Disasters ; 38(4): 690-718, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25196332

ABSTRACT

Few studies have explored the relationships between nation-building, disaster risk reduction and climate change adaptation. Focusing on small island developing states, this paper examines nation-building in Timor-Leste, a small island developing state that recently achieved independence. Nation-building in Timor-Leste is explored in the context of disaster risk reduction, which necessarily includes climate change adaptation. The study presents a synopsis of Timor-Leste's history and its nation-building efforts as well as an overview of the state of knowledge of disaster risk reduction including climate change adaptation. It also offers an analysis of significant gaps and challenges in terms of vertical and horizontal governance, large donor presence, data availability and the integration of disaster risk reduction and climate change adaptation for nation-building in Timor-Leste. Relevant and applicable lessons are provided from other small island developing states to assist Timor-Leste in identifying its own trajectory out of underdevelopment while it builds on existing strengths.


Subject(s)
Climate Change , Disaster Planning/organization & administration , Public Policy , Risk Reduction Behavior , Humans , Timor-Leste
16.
Article in English | MEDLINE | ID: mdl-23533477

ABSTRACT

Introduction. Botulinum toxin inhibits acetylcholine (ACh) release and probably blocks some nociceptive neurotransmitters. It has been suggested that the development of myofascial trigger points (MTrP) is related to an excess release of ACh to increase the number of sensitized nociceptors. Although the use of botulinum toxin to treat myofascial pain syndrome (MPS) has been investigated in many clinical trials, the results are contradictory. The objective of this paper is to identify sources of variability that could explain these differences in the results. Material and Methods. We performed a content analysis of the clinical trials and systematic reviews of MPS. Results and Discussion. Sources of differences in studies were found in the diagnostic and selection criteria, the muscles injected, the injection technique, the number of trigger points injected, the dosage of botulinum toxin used, treatments for control group, outcome measures, and duration of followup. The contradictory results regarding the efficacy of botulinum toxin A in MPS associated with neck and back pain do not allow this treatment to be recommended or rejected. There is evidence that botulinum toxin could be useful in specific myofascial regions such as piriformis syndrome. It could also be useful in patients with refractory MPS that has not responded to other myofascial injection therapies.

17.
Endocr Relat Cancer ; 15(1): 207-15, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18310288

ABSTRACT

Linkage analysis has identified four familial non-medullary thyroid carcinoma (FNMTC) susceptibility loci: fPTC/PRN (1p13.2-1q22), NMTC1 (2q21), MNG1 (14q32) and TCO (19p13.2). To date, there is no evidence for the involvement of genes from the RAS/RAF signalling pathway in FNMTC. The aim of our study was to evaluate the role of the four susceptibility loci, and RAS/RAF signalling pathway genes, in FNMTC. In total, 8 FNMTC families, and 27 thyroid lesions from family members (22 papillary thyroid carcinomas (PTCs): 11 classic, 10 of the follicular variant and 1 of the mixed variant; 4 follicular thyroid adenomas (FTAs) and 1 nodular goitre (NG)), were evaluated for the involvement of the four susceptibility regions, using linkage and loss of heterozygosity (LOH) analyses. BRAF and H-, N- and K-RAS mutations were also screened in the 27 lesions and patients. Linkage analysis in seven informative families showed no evidence for the involvement of any of the four candidate regions, supporting a genetic heterogeneity for FNMTC. Twenty tumours (74%), of which 18 were PTCs, showed no LOH at the four susceptibility loci. The remaining seven tumours (four PTCs, two FTAs and one NG) showed variable patterns of LOH. Fourteen tumours (52%) had somatic mutations: BRAF-V600E mutation was observed in 9 out of the 22 PTCs (41%); and H-RAS and N-RAS mutations were detected in 5 out of the 22 PTCs (23%). Our data suggest that the four candidate regions are not frequently involved in FNMTC and that the somatic activation of BRAF and RAS plays a role in FNMTC tumourigenesis.


Subject(s)
Adenocarcinoma, Follicular/genetics , Adenoma/genetics , Carcinoma, Papillary/genetics , Genes, ras/genetics , Genetic Linkage , Goiter, Nodular/genetics , Mutation/genetics , Proto-Oncogene Proteins B-raf/genetics , Thyroid Neoplasms/genetics , Adolescent , Adult , Aged , Child , Female , Genetic Predisposition to Disease , Genotype , Haplotypes , Humans , Lod Score , Male , Middle Aged
19.
Clin Nucl Med ; 30(2): 79-82, 2005 Feb.
Article in English | MEDLINE | ID: mdl-15647670

ABSTRACT

PURPOSE: A 68-year-old man with metastatic follicular thyroid carcinoma had T3 hyperthyroidism. MATERIAL AND METHODS: A bone scan showed intense uptake in the thyroid and multiple areas of increased uptake in the skeleton. Hyperthyroidism persisted after total thyroidectomy. Treatment with I-131 induced a transient state of euthyroidism lasting approximately 9 months. Further tumor growth and relapse of hyperthyroidism eventually occurred and the patient died 25 months after surgery. Molecular and cytogenetic analyses were performed. RESULTS: No mutations were detected of either of the thyrotropin receptor or of the alpha subunit of the stimulatory guanine-nucleotide-binding proteins. Hyperthyroidism was unlikely the result of thyroid-stimulating receptor antibodies. Comparative genomic hybridization analysis showed that the tumor was characterized by multiple chromosomal imbalances. CONCLUSIONS: This is an unusual case of follicular thyroid carcinoma with initial high I-131 uptake by the thyroid and bone metastases and concurrent hyperthyroidism. Despite the increased I-131 uptake in the tumor, I-131 treatment only transiently controlled the hyperthyroidism and had no effect on tumor size. The cause of hyperthyroidism remained unknown. T3 predominance was unlikely the result of type 2 deiodinase overexpression because loss of genetic material was demonstrated at chromosome 14 long arm, where type 2 deiodinase is mapped.


Subject(s)
Adenocarcinoma, Follicular/diagnosis , Adenocarcinoma, Follicular/therapy , Bone Neoplasms/diagnostic imaging , Hyperthyroidism/diagnosis , Hyperthyroidism/therapy , Iodine Radioisotopes/therapeutic use , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/therapy , Adenocarcinoma, Follicular/complications , Adenocarcinoma, Follicular/secondary , Aged , Bone Neoplasms/secondary , Bone Neoplasms/therapy , Humans , Hyperthyroidism/complications , Hyperthyroidism/genetics , Male , Radionuclide Imaging , Thyroid Neoplasms/complications , Thyroid Neoplasms/genetics , Thyroidectomy
20.
Rev. méd. domin ; 50(2/3): 57-9, abr.-sept. 1989. ilus
Article in Spanish | LILACS | ID: lil-80383

ABSTRACT

Con el objetivo de detarminar la conveniencia de la Terapia de Rehidratación Oral (TRO) con la administración de Sales de Rehidratación Oral (SRO) recomendadas por la OMS/UNICEF, se estudiaron 70 niños, menores de cinco años, deshidratados por Enfermedad Diarreica Aguda (EDA) admitidos entre junio y agosto de 1986 en el sevicio de rehidratación del hospital Juan Pablo Pina, en San Cristóbal, Reública Dominicana. El 99% evolucionó satisfactoriamente, independientemente de la edad y el estado nutricional. De éstos, el 71% ganó peso antes del egreso. No se observaron complicaciones. El 76% de los pacientes fueron hidratados en las primeras seis horas. En un paciente no se logró corregir la deshidratación con las SRO debido a la persistencia de vómitos y diarreas; en ese caso se indicó hidratación por vía intravenosa. Se concluye que las SRO recomendadas por la OMS/UNICEF son convenientes para la correción de la deshidratación en niños con EDA


Subject(s)
Infant , Child, Preschool , Humans , Male , Female , Fluid Therapy
SELECTION OF CITATIONS
SEARCH DETAIL