Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 41
Filtrar
1.
J Sex Med ; 20(3): 260-268, 2023 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-36763940

RESUMO

BACKGROUND: Health professionals treating sexual dysfunction and relational dissatisfaction recognize that they are multifactorial phenomena, and depression can be bidirectionally associated with both. AIM: The purpose of this study was to investigate sexual dysfunction in heterosexual couples in relation to the quality of their marital relationship and depression symptoms. METHODS: The sample consisted of 100 heterosexual couples recruited in Brazil. Both partners of each couple completed the Golombok-Rust Inventory of Sexual Satisfaction and the Golombok-Rust Inventory of Marital Satisfaction, which were translated and adapted, and the Beck Depression Inventory, which was validated for the Brazilian population. Both partners completed their questionnaires separately, and the couple's surveys were linked to preserve conjugal data for dyadic analysis. The Actor-Partner Interdependence Model was used to understand how sexual dysfunction in couples is related to depression and relationship quality among and between partners. RESULTS: Sexual dysfunction was found to be strongly associated with dissatisfaction in the relationship (husbands, ß = 0.57, P < 0.001; wives, ß = 0.60, P < 0.001), and a positive association was found between depressive symptoms and marital dissatisfaction (husbands, ß = .32, P < .001; wives ß = .40, P < .001). CLINICAL IMPLICATION: The results suggest that it is important for health professionals to be aware of the dyadic impact of struggles with both sex and the relationship and the presence of depression symptoms in patients who seek care for sexual complaints or depression and who are in a marital relationship. STRENGTHS AND LIMITATIONS: The different results found for men and women may shed light on the biopsychosocial dimensions of human sexuality. When treated as a purely physical experience, sex is myopic. In this study we demonstrated psychosocial aspects associated with gender and sexuality, and the partner's variables were found to have a greater impact on women than they did on the men. A limitation of this study is that the sample is not generalizable as it is not demographically representative of all socioeconomic groups in Brazil. Furthermore, the participants in this sample did not have clinical levels of depression, so the results cannot be extended to couples in which one or both spouses have depressive disorder. CONCLUSION: It was found that sexual dysfunction is strongly associated with the quality of the couple relationship, and that the quality of relationship plays a mediating role between depression and marital quality, especially for the women.


Assuntos
Casamento , Disfunções Sexuais Fisiológicas , Masculino , Humanos , Feminino , Casamento/psicologia , Brasil , Depressão/diagnóstico , Disfunções Sexuais Fisiológicas/epidemiologia , Cônjuges/psicologia , Heterossexualidade , Satisfação Pessoal , Parceiros Sexuais/psicologia
2.
Cancers (Basel) ; 14(12)2022 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-35740552

RESUMO

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy burdened by poor prognosis. While huge progress of immunotherapy has recently improved the outcome of B-cell malignancies, the lack of tumor-restricted T-cell antigens still hampers its progress in T-ALL. Therefore, innovative immunotherapeutic agents are eagerly awaited. To this end, we generated a novel asymmetric (2 + 1) bispecific T-cell engager (BTCE) targeting CD1a and CD3ε (CD1a x CD3ε) starting from the development of a novel mAb named UMG2. UMG2 mAb reacts against CD1a, a glycoprotein highly expressed by cortical T-ALL cells. Importantly, no UMG2 binding was found on normal T-cells. CD1a x CD3ε induced high T-cell mediated cytotoxicity against CD1a+ T-ALL cells in vitro, as demonstrated by the concentration-dependent increase of T-cell proliferation, degranulation, induction of cell surface activation markers, and secretion of pro-inflammatory cytokines. Most importantly, in a PBMC-reconstituted NGS mouse model bearing human T-ALL, CD1a x CD3ε significantly inhibited the growth of human T-ALL xenografts, translating into a significant survival advantage of treated animals. In conclusion, CD1a x CD3ε is a novel BTCE highly active against CD1a-expressing cortical-derived T-ALL cells suitable for clinical development as an effective therapeutic option for this rare and aggressive disease.

3.
Acta Biomed ; 93(2): e2022162, 2022 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-35546014

RESUMO

OBJECTIVE: The management of prediabetes and hyperglycemia is an increasingly important aspect of care in patients with thalassemia. In light of the limited evidence about the management of GD (glucose dysregulation) with glucose-lowering agents (GLAs), we have conducted a retrospective survey in TDT and NTDT patients with diabetes mellitus to collect more detailed information on GLA use in order to make preliminary recommendations. STUDY DESIGN AND METHOD: A questionnaire was prepared and distributed to the tertiary thalassemia care Centers of ICET-A Network. RESULTS: Eight  thalassemia care Centers [Bulgaria, Greece, Iran, Italy (4 Centers) and Qatar], following 1.554 with transfusion-dependent thalassemia (TDT), 132 (8.4%) with diabetes and 687 with non-transfusion-dependent thalassemia (NTDT), 27 (3.9%) with diabetes, participated in the retrospective survey. The records of 117 TDT patients and 9 NTDT patients with diabetes treated with GLAs were analyzed. Metformin, a biguanide, was the most frequently used drug (47.6 %), followed by alpha-glucosidase inhibitors (5.5 %), incretins (4.7%) and insulin secretagogues (3.1%).  In 68 (61.2) patients  GLAs was prescribed as monotherapy, while the remaining  49  (38.8%), who had inadequate glucose control with metformin, were treated with combination treatment. Fifty-one patients  of 126 (40.4%) initially treated with oral GLA, for a mean duration of 61.0 ± 35.6 months (range: 12- 120 months), required insulin therapy for better metabolic control. CONCLUSION: This retrospective study covers an unexplored area of research in patients with thalassemia and GD. Oral GLAs appear to be safe and effective for the treatment of diabetes mellitus in patients with thalassemia, and can achieve adequate glycemic control for a substantial period of time.


Assuntos
Diabetes Mellitus , Metformina , Talassemia , Talassemia beta , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/epidemiologia , Glucose , Humanos , Insulina/uso terapêutico , Dados Preliminares , Estudos Retrospectivos , Talassemia/terapia
4.
Acta Biomed ; 92(5): e2021480, 2021 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-34738554

RESUMO

Sexual precocity refers to the appearance of physical and hormonal signs of pubertal development at an earlier age. It may be considered as the expression of secondary sexual characteristics prior to the pubertal age In central precocious puberty (CPP), which is gonadotropin-dependent, early maturation of the entire hypothalamic-pituitary-gonadal (HPG) axis occurs, with the full spectrum of physical and hormonal changes of puberty. True precocious puberty in girls must also be distinguished from premature thelarche (PT), usually with breast development before the age of 3 years, and premature pubarche (PA), with the isolated development of pubic hair. These conditions are not usually associated with accelerated growth rate or advancement in bone age. Clinical, laboratory and instrumental evaluations are necessary for the diagnosis. Pelvic ultrasound could serve as a complementary tool for the diagnosis, treatment and follow-up of CPP. The interpretation of clinical, laboratory and strumental data must be performed by an expert pediatric endocrinologist to maximize the diagnostic value in females with pubertal disorders.


Assuntos
Puberdade Precoce , Criança , Pré-Escolar , Feminino , Humanos , Puberdade , Puberdade Precoce/diagnóstico por imagem , Puberdade Precoce/terapia , Ultrassonografia
7.
Acta Biomed ; 91(3): e2020026, 2020 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-32921722

RESUMO

A review of the literature on COVID-19 pandemic in patients with thalassemias is presented. Globally, the prevalence of COVID-19 among  ß-thalassemia patients seems to be lower than in general population; associated co-morbidities aggravated the severity of  COVID- 19, leading to a poorer prognosis, irrespective of age. A multicenter registry will enhance the understanding of COVID-19 in these patients and will lead to more evidence-based management recommendations.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Talassemia/epidemiologia , COVID-19 , Comorbidade , Saúde Global , Humanos , Prevalência , SARS-CoV-2
8.
Acta Biomed ; 91(3): e2020087, 2020 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-32921783

RESUMO

Hashimoto encephalopathy (HE) is a rare but controversial entity encompassing a variety of neuropsychological presentations in the setting of autoimmune thyroid disease. HE, mostly described in adults, with a female­to­male ratio of 4:1, is a relatively rare entity in the pediatric population and probably under recognized as a cause of acute encephalopathy in children and adolescents. A number of pathogenetic mechanisms have been suggested. Female prevalence, presence of autoantibodies, fluctuating course, and response to immunomodulatory therapy suggest the autoimmune nature of the disease. Existing diagnostic criteria for adults require modification to be applied to children and adolescents, who differ from adults in their clinical presentations, clinical findings, autoantibody profiles, treatment response, and long-term outcomes. A combination of neurological findings, positive antithyroid autoantibodies, and responsiveness to steroids is diagnostic of HE. We add a new case of HE in an adolescent girl and review the current HE literature.


Assuntos
Encefalopatias , Encefalite , Doença de Hashimoto , Adolescente , Autoanticorpos , Encefalopatias/etiologia , Encefalite/diagnóstico , Feminino , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/tratamento farmacológico , Humanos
9.
Mediterr J Hematol Infect Dis ; 12(1): e2020046, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32670524

RESUMO

OBJECTIVES: This study aims to investigate, retrospectively, the epidemiological and clinical characteristics, laboratory results, radiologic findings, and outcomes of COVID-19 in patients with transfusion-dependent ß thalassemia major (TM), ß-thalassemia intermedia (TI) and sickle cell disease (SCD). DESIGN: A total of 17 Centers, from 10 countries, following 9,499 patients with hemoglobinopathies, participated in the survey. MAIN OUTCOME DATA: Clinical, laboratory, and radiologic findings and outcomes of patients with COVID-19 were collected from medical records and summarized. RESULTS: A total of 13 patients, 7 with TM, 3 with TI, and 3 with SCD, with confirmed COVID-19, were identified in 6 Centers from different countries. The overall mean age of patients was 33.7±12.3 years (range:13-66); 9/13 (69.2%) patients were females. Six patients had pneumonia, and 4 needed oxygen therapy. Increased C-reactive protein (6/10), high serum lactate dehydrogenase (LDH; 6/10), and erythrocyte sedimentation rate (ESR; 6/10) were the most common laboratory findings. 6/10 patients had an exacerbation of anemia (2 with SCD). In the majority of patients, the course of COVID-19 was moderate (6/10) and severe in 3/10 patients. A 30-year-old female with TM, developed a critical SARS-CoV-2 infection, followed by death in an Intensive Care Unit. In one Center (Oman), the majority of suspected cases were observed in patients with SCD between the age of 21 and 40 years. A rapid clinical improvement of tachypnea/dyspnea and oxygen saturation was observed, after red blood cell exchange transfusion, in a young girl with SCD and worsening of anemia (Hb level from 9.2 g/dl to 6.1g/dl). CONCLUSIONS: The data presented in this survey permit an early assessment of the clinical characteristics of COVID 19 in different countries. 70% of symptomatic patients with COVID- 19 required hospitalization. The presence of associated co-morbidities can aggravate the severity of COVID- 19, leading to a poorer prognosis irrespective of age.

10.
Acta Biomed ; 91(2): 75-79, 2020 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-32420929

RESUMO

BACKGROUND: The new Coronavirus identified in Whuan at the end of 2019 (SARS-CoV-2) belongs to the Beta Coronavirus genus and is responsible for the new Coronavirus 2019 pandemia (COVID-19). Infected children may be asymptomatic or present fever, dry cough, fatigue or gastrointestinal symptoms. The CDC recommends that clinicians should decide to test patients based on the presence of signs and symptoms compatible with COVID-19. MATERIAL AND METHODS: 42 children (the majority < 5 years of age) were referred, to our Pediatric Department, as possible cases of COVID-19 infection. Blood analysis, chest X-ray, and naso-oropharyngeal swab specimens for viral identification of COVID-19 were requested. RESULTS: None of the screened children resulted positive for COVID-19 infection. At first presentation, the most frequent signs and symptoms were: fever (71.4%), fatigue (35.7%) and cough (30.9%).  An  high  C-reactive protein value and abnormalities of chest  X-ray (bronchial wall thickening) were detected in 26.2% and 19% of patients, respectively. Almost half of patients (45.2%) required hospitalization in our Pediatric Unit and one patient in Intensive Care Unit. CONCLUSIONS: Testing people who meet the COVID-19 suspected case definition criteria is essential for clinical management and outbreak control. Children of all ages can get COVID-19, although they appear to be affected less frequently than adults, as reported in our preliminary survey. Further studies are needed to confirm our observations.


Assuntos
Betacoronavirus , Infecções por Coronavirus/diagnóstico , Admissão do Paciente , Pneumonia Viral/diagnóstico , Doença Aguda , Adolescente , COVID-19 , Criança , Pré-Escolar , Infecções por Coronavirus/complicações , Serviço Hospitalar de Emergência , Feminino , Gastroenteropatias/virologia , Humanos , Lactente , Recém-Nascido , Masculino , Pandemias , Pneumonia Viral/complicações , SARS-CoV-2 , Triagem
11.
Mediterr J Hematol Infect Dis ; 12(1): e2020006, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31934316

RESUMO

Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the present report reviews briefly the frequency, the major risk factors, and the surveillance of HCC in ß-thalassemias. Over the past 33 years, 153 cases of HCC were reported in patients with thalassemia, mainly in Italy and Greece. Among HCV-infected patients, additional factors promoting the development of HCC included: advanced age, male sex, chronic hepatitis B (CHB) co-infection, and iron overload. For early diagnosis of HCC, sequential ultrasound screening is recommended especially for thalassemia patients with chronic hepatitis C (CHC), which coincides with (one or more) additional risk factors for HCC. Here we report also the preliminary data from thalassemic patients, above the age of 30 years, followed in 13 ICET-A centers. The total number of enrolled patients was 1,327 (males: 624 and 703 females). The prevalence of HCC in thalassemia major patients [characterized by transfusion-dependency (TDT)] and thalassemia intermedia [characterized by nontransfusion dependency (NTDT)] was 1.66 % and 1.96 %, respectively. The lowest age at diagnosis of HCC was 36 years for TDT and 47 years for NTDT patients. We hope that this review can be used to develop more refined and prospective analyses of HCC magnitude and risk in patients with thalassemia and to define specific international guidelines to support clinicians for early diagnosis and treatment of HCC in thalassemic patients.

12.
Acta Biomed ; 90(3): 225-237, 2019 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-31580308

RESUMO

BACKGROUND: More than five decades ago, thalassemia major (TDT) was fatal in the first decade of life. Survival and quality of life have improved progressively thanks to the implementation of a significant advance in diagnostic and therapeutic methods, consisting mainly of a frequent transfusion program combined with intensive chelation therapy. Improvement also includes imaging methods used to measure liver and cardiac iron overload. Improved survival has led to a growing number of adults requiring specialised care and counselling for specific life events, such as sexual maturity and acquisition of a family. AIMS OF THE STUDY: The main aim is to present the results of a survey on the marital and paternity status in a large population of adult males with TDT and NTDT living in countries with a high prevalence of thalassemia and a review of current literature using a systematic search for published studies. RESULTS: Ten out of 16 Thalassemia Centres (62.5%) of the ICET-A Network, treating a total of 966 male patients, aged above 18 years with ß- thalassemias (738 TDT and 228 NTDT), participated in the study. Of the 966 patients, 240 (24.8%) were married or lived with partners, and 726 (75.2%) unmarried. The mean age at marriage was 29.7 ± 0.3 years. Of 240 patients, 184 (76.6%) had children within the first two years of marriage (2.1 ± 0.1 years, median 2 years, range 1.8 - 2.3 years). The average number of children was 1.32 ± 0.06 (1.27 ± 0.07 in TDT patients and 1.47 ± 0.15 in NTDT patients; p: >0.05). Whatever the modality of conception, 184 patients (76.6%) had one or two children and 1 NTDT patient had 6 children. Nine (4.8%) births were twins. Of 184 patients, 150 (81.5%) had natural conception, 23 (12.5%) required induction of spermatogenesis with gonadotropins (hCG and hMG), 8 (4.3%) needed intracytoplasmic sperm injection (ICSI) and 3 adopted a child. 39 patients with TDT and NTDT asked for medical help as they were unable to father naturally: 7 TDT patients (17.9%) were azoospermic, 17 (37.7%) [13 with TDT and 4 with NTDT] had dysspermia and 15 (33.3%) [13 with TDT and 2 with NTDT] had other "general medical and non-medical conditions". CONCLUSIONS: Our study provides detailed information in a novel area where there are few contemporary data. Understanding the aspects of male reproductive health is important for physicians involved in the care of men with thalassemias to convey the message that prospects for fatherhood are potentially good due to progressive improvements in treatment regimens and supportive care.


Assuntos
Transfusão de Sangue , Estado Civil , Paternidade , Talassemia/terapia , Adulto , Comorbidade , Ferritinas/sangue , Humanos , Masculino , Talassemia/sangue
13.
Acta Biomed ; 89(4): 481-489, 2019 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-30657116

RESUMO

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented.The commonest endocrine complications registered in 3.114 TM adults are CH and GHD (4.6 % and 3.0 %, respectively), followed by latent hypocortisolism (1.2%). In 13 patients (0.41%) a cytological papillary or follicular thyroid carcinoma was diagnosed in 11 and 2 patients, respectively, and a lobectomy or thyroidectomy was carried out. Of 202 TM patients below the age of 18 years, the  reported endocrine complications were: GHD in 4.5%, latent hypocortisolism in 4.4% and central hypothyrodisim in 0.5%. Transition phase was an area of interest for many clinicians, especially as patients with complex chronic health conditions are responding to new treatments extending their lifespan beyond imagination.. In conclusion, our survey provides a better understanding of  physicians' current clinical practices and beliefs in the detection, prevention and treatment of some endocrine complications prevailing in adult TM patients. Regular surveillance, early diagnosis, treatment and follow-up in a multi-disciplinary specialized setting are recommended.


Assuntos
Doenças do Sistema Endócrino/epidemiologia , Talassemia beta/complicações , Adolescente , Adulto , Fatores Etários , Criança , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Inquéritos e Questionários , Adulto Jovem , Talassemia beta/diagnóstico , Talassemia beta/terapia
14.
F1000Res ; 8: 1771, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31942241

RESUMO

We present a case of an 11-month-old girl who was referred to our unit for an erythematous rash that appeared on the face and extremities. Personal and family history was not relevant. Laboratory tests were normal. During recovery, diameter and colour intensity of the cutaneous lesions increased, but after some weeks, lesions had a self-limited resolution without any treatment. Based on clinical and laboratory findings, a diagnosis of acute hemorrhagic edema of infancy (AHEI) was made.  AHEI is a rare cutaneous leukocytoclastic vasculitis that usually affects children aged between 4 and 24 months. Etiology is unknown but almost of 75% of cases are preceded by infectious episodes, vaccinations or use of medications. In contrast to the dramatic cutaneous eruption, clinical conditions are usually optimal. Classically, AHEI is characterized by a triad of symptoms: fever, edema and purpura. Skin lesions are erythematous, annular, medallion-like, purpuric plaques that have a rapid onset and appear on the face and extremities, sparing trunk and mucosal membranes. Initially interpreted as a variant of Henoch-Schönlein purpura, now it is considered a distinct disease. In the majority of cases the disease is benign and self-limited without a visceral involvement, so a conservative approach is most often chosen.


Assuntos
Púrpura , Vasculite Leucocitoclástica Cutânea , Doença Aguda , Edema/complicações , Feminino , Hemorragia/complicações , Humanos , Lactente , Púrpura/complicações , Vasculite Leucocitoclástica Cutânea/complicações , Vasculite Leucocitoclástica Cutânea/diagnóstico
15.
Acta Biomed ; 90(4): 577-579, 2019 12 23.
Artigo em Inglês | MEDLINE | ID: mdl-31910188

RESUMO

BACKGROUND: Loss-of-function mutations of fibroblast growth factor receptor 1 gene (FGFR1) have been reported so far. These mutations have been described in the extracellular domain, consisting of three Ig-like domains in the single transmembrane helix and in the intracellular region, containing a tyrosine kinase domain and cause about 10% of all cases of Kallmann syndrome. FRGR1 mutations could be associated with non reproductive phenotype such as cleft palate and dental agenesis and a wide spectrum of reproductive phenotype. CASE REPORT: The patient, 17 years and 11 months old, was a Bulgarian male referred to our Pediatric Endocrinology Unit for pubertal failure and hyposmia. Clinical evaluation revealed a highpitched voice, gynecomastia and obesity. Hormonal study revealed hypogonadotropic hypogonadism. Molecular analysis, performed by Next Generation Sequencing and confirmed by Sanger sequencing, led to the identification of a novel and previously undescribed mutation c.1058 C>G (p. S353C) in heterozygous state on exon 8 of the FGFR1 gene. CONCLUSION: The novel mutation, that we found in a boy with Kallman syndrome, could destabilize the D3 immunoglobulin like receptor domain that is crucial for the FGF-FGFR interaction. (www.actabiomedica.it).


Assuntos
Síndrome de Kallmann/genética , Mutação de Sentido Incorreto , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Adolescente , Humanos , Masculino
16.
Acta Biomed ; 90(4): 599-602, 2019 12 23.
Artigo em Inglês | MEDLINE | ID: mdl-31910193

RESUMO

Yolk sac tumor (YST) is a rare tumor that usually occurs in the first two decades of life. It is considered the second most common malignant germ cell tumor of the ovary, characterized by a rapid growth and a bad prognosis due to the frequent metastasis. We report the case of a 12-year-old girl who came to our observation for an acute abdominal pain. Clinical examination evidenced a vague mass in the suprapubic region and a lower abdomen tenderness, the US imaging revealed a complex lesion of the left ovary (19 x 13 cm) and the alpha-fetoprotein (AFP) resulted high (5858 ng/mL). Computed tomography (CT) revealed a large pelvic mass. The treatment consisted of debulking surgery of yolk sac tumor followed by 4 cycles of BEP protocol (Bleomycin, Etoposide, Cisplatin). After 3 years of follow-up there was no evidence of disease recurrence. (www.actabiomedica.it).


Assuntos
Abdome Agudo/etiologia , Tumor do Seio Endodérmico/complicações , Neoplasias Ovarianas/complicações , Adolescente , Tumor do Seio Endodérmico/diagnóstico , Tumor do Seio Endodérmico/terapia , Feminino , Humanos , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/terapia
17.
Acta Biomed ; 88(4): 435-444, 2018 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-29350657

RESUMO

Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainly attributed to transfusional iron overload, and suboptimal iron chelation therapy. The main objectives of this survey were to provide data on the prevalence, demographic and clinical features of HPT in thalassemia major (TM) and intermedia (TI) patients living in different countries, and to assess its impact in clinical medical practice. A questionnaire was sent to all Thalassemia Centres participating to the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescence Medicine (ICET-A) Network.Seventeen centers, treating a total of 3023 TM and 739 TI patients, participated to the study. HPT was reported in 206 (6.8%) TM patients and 33 (4.4%) TI patients. In general, ages ranged from 10.5 to 57 years for the TM group and from 20 to 54 years for the TI group. Of the 206 TM patients and 33 TI patients with HPT, 117 (48.9%) had a serum ferritin level >2.500 ng/ml (54.3% TM and 15.1% TI patients) at the last observation. Hypocalcemia varied in its clinical presentation from an asymptomatic biochemical abnormality to a life-threatening condition, requiring hospitalization. Calcium and vitamin D metabolites are currently the cornerstone of therapy in HPT. In TM patients, HPT was preceded or followed by other endocrine and non-endocrine complications. Growth retardation and hypogonadism were the most common complications (53.3% and 67.4%, respectively). Although endocrine complications were more common in patients with TM, non-transfused or infrequently transfused patients with TI suffered a similar spectrum of complications but at a lower rate than their regularly transfused counterparts.In conclusion, although a large international registry would help to better define the prevalence, comorbidities and best treatment of HPT, through the result of this survey we hope to give a clearer understanding of the burden of this disease and its unmet needs. HPT requires lifelong therapy with vitamin D or metabolites and is often associated with complications and comorbidities.Therefore, it is important for endocrinologists and other physicians, who care for these patients, to be aware of recent advances of this disorder.


Assuntos
Hipoparatireoidismo/epidemiologia , Talassemia beta/complicações , Adolescente , Adulto , Criança , Feminino , Ferritinas/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Talassemia beta/sangue
18.
Case Rep Pediatr ; 2016: 1395718, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27478669

RESUMO

An 18-month-old boy presented with abdominal pain, vomiting, diarrhea, and poor appetite for 6 days. He had been given a multivitamin preparation once daily, containing 50.000 IU of vitamin D and 10.000 IU of vitamin A for a wide anterior fontanelle for about three months. He presented with hypercalcemia, low levels of parathyroid hormone (PTH), and very high serum 25-hydroxyvitamin D (25-OHD) levels. Renal ultrasound showed nephrocalcinosis. He did not have sign or symptom of vitamin A intoxication. Patient was successfully treated with intravenous hydration, furosemide, and prednisolone. With treatment, serum calcium returned rapidly to the normal range and serum 25-OHD levels were reduced progressively. In conclusion the diagnosis of vitamin D deficiency rickets without checking 25-OHD levels may cause redundant treatment that leads to vitamin D intoxication (VDI).

19.
Mediterr J Hematol Infect Dis ; 6(1): e2014074, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25408860

RESUMO

INTRODUCTION: IGF-1 deficiency in TM patients in children and adolescents has been attributed to chronic anemia and hypoxia, chronic liver disease, iron overload and other associated endocrinopathies, e.g. growth hormone deficiency (GHD). Few data are available in the literature regarding adult TM patients and growth disorders. The aim of this study was to measure IGF-1 values and other clinical data in a large number of adult patients with TM to evaluate the possible relationships between them. PATIENTS AND METHODS: A cohort of 120 adult patients with TM was studied for plasma levels of IGF-1. Plasma total IGF-1 was determined by chemiluminescent immunometric assay (CLIA) method. In eleven patients (3 females) the GH response during glucagon stimulation test (GST) was also evaluated. RESULTS: Fifty percent of patients (33 males and 27 females) had IGF-1 levels <- 2 SDs below normative values for healthy subjects matched for age and sex. In these patients endocrine complications and elevations of aminotransferases (ALT) were more common compared to TM patients with IGF1 > -2SDs. In multivariate regression analyses, height, weight, BMI, serum ferritin, ALT, HCV serology and left ventricular ejection fraction (LVEF) were not significantly related to IGF-1, but a significant correlation was found in females between HCV-RNA positivity and IGF-1, ALT and serum ferritin. AGHD was diagnosed in 6 (4 males) out of 11 patients (54.5%) who had glucagon stimulation tests and in 5 out of 8 (62.5%) with IGF-1 <-2SD. The mean age of patients with GHD was 39.3 years (range: 25-49 years, median: 39 years) versus 35.8 years (range: 27-45 years, median: 37.5 years) in non-GHD patients. A positive correlation between GH peak after GST and IGF-1 level was found (r: 0.6409; p: < 0.05). CONCLUSIONS: In 50% of TM patients the IGF-1 levels were 2SDs below average values for healthy individuals. IGF-1 deficiency was more common in TM patients with associated endocrine complications, and a significant correlation was found in HCV-RNA positive females among IGF-1, ALT, and serum ferritin. Further data in a larger group of patients are needed to confirm whether IGF-1 level <-2 SDs may be a potential criterion for additional studies in TM patients. This datum could avoid performing GH stimulation tests in the majority of them.

20.
Psico USF ; 19(2): 242-252, maio-ago. 2014. tab
Artigo em Português | LILACS | ID: lil-722205

RESUMO

O presente estudo teve por objetivo investigar a sexualidade e a qualidade de vida de homens com dificuldades sexuais. Foram selecionados dez homens que procuraram o serviço de sexualidade do CIESEX/UNIFESP. A triagem foi realizada através de uma entrevista estruturada contendo dados sociodemográficos e informações sobre as queixas apresentadas. Optou-se pela utilização dos questionários The Golombok-Rust Inventory of Sexual Satisfaction (GRISS) e Short Form Health Survey 36-item (SF-36), preenchidos pelos próprios entrevistados. Os resultados apontaram que homens com dificuldades sexuais apresentam uma menor qualidade em seu funcionamento sexual, bem como uma diminuição dos aspectos emocionais na qualidade de vida. Tal quadro revela um campo a ser explorado, demonstrando a necessidade de estudos que investiguem a correlação entre as dificuldades sexuais e qualidade de vida...


The present study aimed to investigate sexuality and quality of life of men with sexual difficulties. We selectedten men who contacted the department ofsexuality CIESEX/UNIFESP. The screening was performed using a structured interview containing socio-demographic data and information on their complaints. We have chosentouse of questionnairesThe Golombok-Rust Inventory of Sexual Satisfaction(GRISS) and Short Form36-item Health Survey (SF-36), completed by the respondents. The results showed that men withs exual difficulties have lower performance in their sexual functioning, as well as a reduction in emotional quality of life. This table shows a field to be explored, demonstrating the need for studies to investigate the correlation between sexual difficulties and quality of life...


Este estudio tuvo como objetivo investigar la sexualidad y la calidad de vida de hombres con problemas sexuales. Fueron seleccionados diez hombres que buscaron el servicio de sexualidad del CIESEX/UNIFESP. La selección se realizó mediante una entrevista estructurada con datos sociodemográficos e informaciones sobre las quejas presentadas. Se optó por utilizar los cuestionarios The Golombok-Rust Inventory of Sexual Satisfaction (GRISS) y Short Form Health Survey 36-item (SF-36), respondidos por los propios participantes. Los resultados mostraron que los hombres con dificultades sexuales presentaron una menor calidad en su funcionamiento sexual, así como una reducción de los aspectos emocionales en la calidad de vida. Ese hecho muestra un campo a explorar, lo que demuestra la necesidad de realizar estudios para investigar la correlación entre las dificultades sexuales y la calidad de vida...


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Qualidade de Vida , Disfunções Sexuais Psicogênicas , Sexualidade/psicologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...