Hereditary angioedema with C1 inhibitor (C1-INH) deficit: the strength of recognition (51 cases)

Hereditary angioedema (HAE) is a rare autosomal dominant disease due to C1 esterase inhibitor deficiency (C1-INH). The disease is characterized by subcutaneous and submucosal edema in the absence of urticaria due to the accumulation of bradykinin. This descriptive study aimed to evaluate the clinical characteristics of patients with a confirmed diagnosis of HAE referred to our Outpatient Clinic between December 2009 and November 2017. Fifty-one patients (38 F, 13 M) with a mean age of 32 years (range: 7-70 y) were included. Family history of HAE was reported in 70% (36/51) of the cases; 33/46 patients became symptomatic by 18 years of age. The median time between onset of symptoms and diagnosis was 13 years (3 mo-50 y). The most frequent triggering factors for attacks were stress (74.4%), trauma (56.4%), and hormonal variations (56%). The main symptoms were subcutaneous edema in 93.5% (43/46) of patients, gastrointestinal symptoms in 84.8% (39/46), and obstruction in the upper airways in 34.8% (16/46). Hospitalization occurred in 65.2%, of whom 13.3% had to be transferred to the Intensive Care Unit. Prophylactic treatment was instituted in 87% (40/46) of patients, and 56.5% (26/46) required additional treatment to control attacks. Owing to our data collection over a period of 8 years, a significant number of patients were identified by this HAE reference center. Despite early recognition and prophylactic treatment, a high percentage of patients were hospitalized. HAE is still diagnosed late, reinforcing the need for more reference centers specialized in diagnosis and educational projects for health professionals.

Outcomes of long term treatments of type I hereditary angioedema in a Turkish family

Abstract: Background: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. Objective: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. Methods: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. Results: Five members had experienced recurrent swellings on the face and extremities triggered by trauma. They were all misdiagnosed as familial Mediterranean fever (FMF) depending on frequent abdominal pain and were on colchicine therapy for a long time. They had low C4 and C1-INH protein concentrations and functions. A mutation (c.1247T>A) in C1-INH gene was detected. They were diagnosed as having hereditary angioedema with C1-INH deficiency (C1-INH hereditary angioedema) for the first time. Three of them benefited from danazol treatment without any significant adverse events and one received weekly C1 esterase replacement treatment instead of danazol since she had a medical history of thromboembolic stroke. Study limitations: Small sample size of participants. Conclusion: Patients with C1-INH hereditary angioedema may be misdiagnosed as having familial Mediterranean fever in regions where the disorder is endemic. Medical history, suspicion of hereditary angioedema and laboratory evaluations of patients and their family members lead the correct diagnoses of hereditary angioedema. Danazol and C1 replacement treatments provide significant reduction in hereditary angioedema attacks.

Clomiphene treatment may be effective in refractory episodic and chronic cluster headache / Tratamento de 15 casos episódicos e crônicos de cefaleia em salvas de difícil controle com clomifeno

ABSTRACT Objective To describe the evolution of 15 patients who were treated for difficult-to-control episodic and chronic cluster headaches with clomiphene. Methods Clomiphene treatment was used for seven chronic and eight episodic cluster headache patients. The chronic patients were refractory to the medication being used, and the episodic patients, in addition to being resistant to conventional medication, had longer cluster headache periods, exceeding the average time of previous cluster cycles. Our main analysis was of the time to pain-free, complete remission, and the length of pain-free time and complete remission. Results Clomiphene was used for 45-180 days. The average time to being pain-free was 15 days and cluster remission was up to 60 days. The average time between being pain-free until cluster remission was 26 days. Conclusions Clomiphene treatment was significantly efficient. It interrupted chronicity in all patients, suggesting the capability of changing the pattern of attacks. It proved to be safe and well tolerated.

RESUMO Objetivo Descrever a evolução de 15 casos de cefaleia em salvas de difícil controle, episódicos e crônicos, tratados com clomifeno. Métodos Foram tratados 7 casos crônicos e 8 episódicos. Os crônicos, refratários aos medicamentos preventivos em uso e os episódicos, além de refratários, apresentaram salva mais longa que as anteriores. Foram analisados o tempo para a ausência das crises, fim da salva e o tempo entre os dois parâmetros. Resultados O clomifeno foi usado por 45 a 180 dias. A média de tempo para a remissão das crises foi de 15 dias e da salva foi de 60 dias. A média entre o fim das crises e da salva foi de 26 dias. Conclusão O clomifeno foi eficaz em ambos os padrões. Foi capaz de interromper a cronicidade em todos os casos, o que sugere uma ação neuromodulatória capaz de mudar o padrão das crises. Mostrou-se seguro e bem tolerado.

Multidisciplinary Approach to Neoadjuvant Endocrine Therapy in Breast Cancer: A Comprehensive Review / Abordagem multidisciplinar em hormonioterapia neoadjuvante no câncer de mama: uma revisão

ABSTRACT Breast cancer is the most common type of cancer and the leading cause of cancer-related death among women worldwide. Hormone receptor-positive (HRþ) tumors represent the most common form of this disease, with more than 70% of breast cancers expressing these receptors. Response and benefit to neoadjuvant chemo-therapy (NCT) varies according to HR expression, with lower responses in luminal tumors as compared with hormone receptor-negative (HR-) and human epidermal growth factor receptor 2-positive (HER2þ) tumors. Neoadjuvant endocrine therapy (NET) is an option for selected patients with HRþ locally advanced breast cancer. Neoadjuvant endocrine therapy has a favorable toxicity profile, and is associated with benefits such as having low cost and being more easily available even for cancer care professionals outside major urban areas or tertiary centers. These factors are particularly relevant, as 70% of breast cancer deaths occur in women from low-income and middle-income countries. Additionally, NET is being increasingly explored, not simply to allow for less extensive surgery, but also as a scientific tool, with the use of biomarkers to predict outcomes in adjuvant trials and for the individual patient. This review details the current and most relevant evidence about NET for breast cancer as well as the future directions of this field.

RESUMO O câncer de mama é o mais comum, e a principal causa de mortalidade por câncer em mulheres de todo o mundo. Os tumores com receptor hormonal (RH) positivo representam o tipo mais comum desta doença. O benefício e as taxas de resposta à quimioterapia neoadjuvante variam de acordo com a expressão de RH, sendo mais baixa nos tumores luminais em comparação com tumores HER2 positivos ou triplo-negativos. A hormonioterapia neoadjuvante, uma opção para pacientes selecionados com tumores RH positivo localmente avançados, apresenta melhor perfil de tolerabilidade e segurança, e está associada com benefícios adicionais, como baixo custo e fácil acesso. Estes fatores são relevantes, uma vez que 70% das mortes por câncer de mama acontecem em mulheres de países pobres ou em desenvolvimento. Além disso, a hormonioterapia neoadjuvante vem sendo explorada como uma ferramenta científica, ao possibilitar o estudo de biomarcadores que podem predizer desfechos tanto para pacientes individuais quanto para ensaios clínicos em adjuvância. Este artigo de revisão detalha o conhecimento atual e as evidências mais relevantes sobre hormonioterapia neoadjuvante em câncer de mama, assim como perspectivas futuras nesta área.

Clomiphene citrate treatment for late onset hypogonadism: rise and fall

ABSTRACT Objective: Previous series have demonstrated that Clomiphene Citrate (CC) is an effective treatment to increase Total Testosterone (TT) in Late Onset Hypogonadism (LOH) patients. However, what happens to TT levels after ending CC treatment is still debatable. The objective of this study is to evaluate TT levels 3 months after the discontinuation of CC in patients with LOH who were previously successfully treated with the same drug. Materials and Methods: Twenty-seven patients with LOH that were successfully treated (achieved TT levels >11nmol/l) with CC 50mgs daily for 50 days were prospectively recruited in our Andrological outpatient clinic. CC was then stopped for 3 months and TT levels were measured at the end of this period. Results: Mean TT level before discontinuation of CC was 22.7±8.1nmol/L (mean±SD). Three months after discontinuation, mean TT level significantly decreased in all patients, 10.2±3.9nmol/l (p<0.01). Twenty-one patients (78%) decreased TT levels under 11nmol/L. Six patients (22%) had TT levels that remained within the normal recommended range (≥11nmol/l). No statistical significant differences were observed between both groups. Conclusion: In the short term LOH does not seem to be a reversible condition in most patients after CC treatment. More studies with longer follow-up are needed to evaluate the kinetics of TT in LOH.

Tamoxifen decreases the myofibroblast count in the healing bile duct tissue of pigs

OBJECTIVE: The aim of this study was to evaluate the effect of oral tamoxifen treatment on the number of myofibroblasts present during the healing process after experimental bile duct injury. METHODS: The sample consisted of 16 pigs that were divided into two groups (the control and study groups). Incisions and suturing of the bile ducts were performed in the two groups. Tamoxifen (20 mg/day) was administered only to the study group. The animals were sacrificed after 30 days. Quantification of myofibroblasts in the biliary ducts was made through immunohistochemistry analysis using anti-alpha smooth muscle actin of the smooth muscle antibody. Immunohistochemical quantification was performed using a digital image system. RESULTS: In the animals treated with tamoxifen (20 mg/day), there was a significant reduction in immunostaining for alpha smooth muscle actin compared with the control group (0.1155 vs. 0.2021, p = 0.046). CONCLUSION: Tamoxifen reduced the expression of alpha smooth muscle actin in the healing tissue after bile duct injury, suggesting a decrease in myofibroblasts in the scarred area of the pig biliary tract. These data suggest that tamoxifen could be used in the prevention of biliary tract stenosis after bile duct surgeries.

Estratégias de enfrentamento e relação com condições sociodemográficas de mulheres com câncer de mama / Coping strategies and the relationship with sociodemographic conditions of women with breast cancer

OBJETIVO: Examinar a relação entre as estratégias de enfrentamento adotadas por mulheres com câncer de mama em uso de tamoxifeno e as condições sociodemográficas. MÉTODOS: Estudo descritivo, transversal, com abordagem quantitativa. Os dados foram obtidos em entrevista realizada com 270 mulheres, com diagnóstico de câncer de mama em uso de tamoxifeno, usuárias do ambulatório Ylza Bianco, pertencente ao Hospital Santa Rita de Cássia, no Município de Vitória/ES. A análise foi realizada por meio SPSS - Versão 13,0 - 2004. RESULTADOS: Mulheres não letradas enfrentam o problema priorizando a busca de práticas religiosas (p<0,05); e mulheres com maior escolaridade, pertencentes à classe econômica B, com renda familiar superior a três salários mínimos e que vivem em área urbana empregam mais a estratégia de enfrentamento com foco no problema (p<0,05). CONCLUSÃO: A estratégia de enfrentamento adotada está associada a aspectos sociodemográficos.

OBJECTIVE: To examine the relationship among the coping strategies adopted by women with breast cancer using tamoxifen and sociodemographic conditions. METHODS: A cross-sectional study, with a quantitative approach. Data were obtained in an interview conducted with 270 women, with a diagnosis of breast cancer using tamoxifen, users of the outpatient Ylza Bianco center, belonging to the Hospital Santa Rita de Cássia, in Vitória / ES (Brazil). The analysis was performed using SPSS - Version 13.0 - 2004. RESULTS: Illiterate women faced the problem by prioritizing the search for religious practices (p <0.05); and women with higher education, belonging to economic class B, with family income more than three times the minimum wage and who lived in urban areas employ more coping strategies that are focused on the problem (p <0.05). CONCLUSION: The coping strategy adopted is associated with sociodemographic characteristics.

OBJETIVO: Examinar la relación entre las estrategias de enfrentamiento adoptadas por mujeres con cáncer de mama que usan tamoxifeno y las condiciones sociodemográficas. MÉTODOS: Estudio descriptivo, transversal, con abordaje cuantitativo. Los datos fueron obtenidos en entrevista realizada a 270 mujeres, con diagnóstico de cáncer de mama que usan tamoxifeno, usuarias del Consultorio Externo Ylza Bianco, perteneciente al Hospital Santa Rita de Cássia, en el Municipio de Vitória/ES. El análisis fue realizado por medio del SPSS - Versión 13,0 - 2004. RESULTADOS: Las mujeres no letradas enfrentan el problema priorizando la búsqueda de prácticas religiosas (p<0,05); y mujeres con mayor escolaridad, pertenecientes a la clase económica B, con ingreso familiar superior a tres salarios mínimos y que viven en área urbana emplean más la estrategia de enfrentamiento con foco en el problema (p<0,05). CONCLUSIÓN: La estrategia de enfrentamiento adoptada está asociada a aspectos sociodemográficos.

Migraine-like Headache in a Patient with Complement 1 Inhibitor Deficient Hereditary Angioedema

We report on an angioedema patient with a genetic defect in complement 1 inhibitor, manifesting migraine-like episodes of headache, effective prophylaxis with Danazol, and triptan for a treatment of acute clinical episode. The patient was 44-yr-old Korean man with abdominal pain and headache, who was brought into the Emergency Department of Seoul National University Hospital, Seoul. He suffered from frequent attacks of migraine-like headache (3-7 per month), pulsating in nature associated with nausea. Severities were aggravated by activity and his headache had shown recent progression with abdominal pain. No remarkable findings were observed on radiologic examination, brain magnetic resonance images and intracranial and extracranial magnetic resonance angiography. Danazol 200 mg every other day was subsequently used. Following administration of Danazol, symptoms showed improvement and the patient was discharged. While taking Danazol, the migraine-like episodes appeared to be prevented for about 2 yr. At the eighth month, he suffered a moderate degree of migraine-like headache; however, administration of naratriptan 2.5 mg resolved his problem. A case of genetic defect of C1-INH deficiency presented with headache episodes, and was controlled by Danazol and triptan. It suggests that pathogenic mechanism of headache in hereditary angioedema may be mediated by the neurogenic inflammatory-like physiology of migraine.

Clomiphene fails to revert hypogonadism in most male patients with conventionally treated nonfunctioning pituitary adenomas / Clomifeno não reverte o hipogonadismo na maioria dos homens com adenomas pituitários não funcionais tratados de forma convencional

OBJETIVE: To evaluate the effect of clomiphene in men with hypogonadism and conventionally treated nonfunctioning pituitary adenomas (NFPA). PATIENTS AND METHODS: Open label, single-arm, prospective trial. Nine hypogonadal men (testosterone < 300 ng/dL and low/normal LH) with previously treated NFPA. Clomiphene (50 mg/day orally) for 12 weeks. Testosterone, estradiol, LH, FSH, prolactin and erectile function were evaluated before and after 10 days, 4, 8 and 12 weeks of clomiphene treatment. RESULTS: After clomiphene treatment, testosterone and erectile function improved in only one patient. In the remaining eight patients, testosterone levels decreased whereas LH, FSH, and estradiol remained unchanged. Insulin sensitivity increased in unresponsive patients. CONCLUSIONS: Compared with hypogonadal men with prolactinomas under dopaminergic therapy, clomiphene treatment failed to restore normal testosterone levels in most patients with conventionally treated NFPA.

OBJETIVO: Avaliar o efeito do clomifeno em homens com hipogonadismo e adenoma hipofisário não funcionante (NFPA) previamente tratados. PACIENTES E MÉTODOS: Aberto, braço único, prospectivo. Nove homens hipogonádicos (testosterona < 300 ng/dL e LH normal/baixo) com NFPA previamente tratados. Clomifeno (50 mg/dia oral) por 12 semanas. Testosterona, estradiol, LH, FSH, prolactina e função erétil foram avaliados antes e após 10 dias, 4, 8 e 12 semanas de clomifeno. RESULTADOS: Após clomifeno, a testosterona e a função erétil melhoraram em um paciente. Em outros oito pacientes, os níveis de testosterona reduziram enquanto os níveis de LH, FSH, e estradiol permaneceram inalterados. A sensibilidade à insulina aumentou nos não respondedores. CONCLUSÕES: Em contraste com homens hipogonádicos com prolactinomas tratados com agonistas dopaminérgicos, a maioria dos hipogonádicos com NFPA falha em restaurar os níveis de testosterona durante o uso de clomifeno.

Clinical outcome of adjuvant endocrine treatment according to Her-2/neu status in breast cancer.

Background & objectives: An association between over-expression of proto-oncogene Her-2/neu and resistance to tamoxifen in estrogen receptor (ER) positive, primary and metastatic breast cancer has been suggested. HR+/Her-2/neu+ patients have a poor response to endocrine therapy, making this group a matter of debate. The present study was carried out to examin whether Her-2/neu expression in breast cancer patients predicted tamoxifen effectiveness. Methods: An enzyme-linked immunosorbent assay (ELISA) specific for the extracellular domain of the Her-2/neuoncoprotein product was used to detect serum Her-2/neu levels in 207 patients with histological confirmed breast cancer. Tissue Her-2/neu expression was studied in 100 breast cancer patients by immunohistochemistry (IHC) and compared with serum Her-2/neu levels by ELISA. Results: Among 207 histologically confirmed breast cancer patients, 53 were serum Her-2/neu positive. Patients who were treated with surgery, chemotherapy, and radiotherapy showed significantly (P<0.05) reduced serum Her-2/neu levels, showing good response to treatment. Patients who were treated with tamoxifen in addition to the above regimen did not show any significant reduction in serum Her-2/neu levels showing resistance to treatment. Interpretation & conclusions: The present findings study support the hypothesis that Her-2/neu overexpression contributes to tamoxifen resistance. Trastuzumab or other growth factor inhibitors should be used in combination with tamoxifen, since monotherapy is not likely to be optimal in HR+/Her-2/neu+ tumours.

Does gestrinone antagonize the effects of estrogen on endometrial implants upon the peritoneum of rats?

OBJECTIVE: To evaluate the effects of estrogen treatment in combination with gestrinone on an experimental rat model of endometriosis. METHODS: Uterine transplants were attached to the peritoneum of female Wistar rats via a surgical autotransplantation technique. The implanted area was measured during the proestrus phase and after hormonal treatment. We performed morphometric analysis and examined the macroscopic and morphometric alterations of endometrial implants after hormonal treatment in ovariectomized rats. RESULTS: The high dose of estrogen caused macroscopic increases in the endometrial implant group compared with other groups, which were similar to increases in the proestrus phase. The low dose showed morphometric development of implants, such as an increase in number of endometrial glands, leukocyte infiltration and mitosis. Gestrinone antagonized both doses of estrogen. CONCLUSION: Our findings suggest that gestrinone antagonizes estrogen's effects on rat peritoneal endometrial implants.

Terapia médica de la ginecomastia con tamoxifeno. Influencia del volumen y duración de la ginecomastia en el resultado terapéutico / Influence of size and duration of gynecomastia on its response to treatment with tamoxifen

Background. Gynecomastia is treated when it is painful, there are psychosocial repercussions or it does not revert in less tan two years. It is treated with the antiestrogenic drug tamoxifen, but there are doubts about its effectiveness in high volume gynecomastias or in those lasting more than two years. Aim. To assess the effectiveness and safety of tamoxifen for gynecomastia and the influence of its volume and duration on the response to treatment. Patients and methods. Forty three patients with gynecomastia, aged 12 to 62 years, were studied. Twenty seven patients had a pubertal physiological gynecomastia, in eight it was caused by medications, in four it was secondary to hypogonadism, in three it was idiopathic and in one it was due to toxic exposure. Twenty patients had mastodynia and in 33, gynecomastia had a diameter over 4 cm. It lasted less than two years in 30 patients, more than two years in nine and four did not recall its duration. All were treated with tamoxifen 20 mg/dayfor 6 months. A follow up evaluation was performed at three and six months of treatment. Results. Mastodynia disappeared in all patients at three months. At six months gynecomastia disappeared in 26 patients (62 percent), but relapsed in 27 percent. All gynecomastias caused by drugs with antiandrogen activity disappeared. Fifty two percent of gynecomastias over 4 cm and 90 percent of those of less than 4 cm in diameter disappeared (p<0.05). Fifty six percent of gynecomastias lasting more than two years and 70 percent of those of a shorter duration disappeared (p=NS). Two patients had diarrhea or flushes associated to the therapy. Conclusions: Tamoxifen is safe and effective for the treatment of gynecomastia. Larger lesions have a lower response to treatment.

Medical management of male infertility.

Management of male infertility is always a difficult task. In recent years booming of artificial reproductive technologies (ART) has put infertologists and andrologists in front of a million dollar question whether to treat the person or the gametes. A basic andrology laboratory at present has become part and parcel of an infertility clinic. Hence treatment of male infertility has become institutional and collective for clinicians and basic scientists. The basic approach towards management of male infertility includes confirmation of diagnosis and to find out the cause for which pathological, endocrinological and biochemical tests are essential. In this series specific defects causing seminopathy has been found in 18% cases where treatment is straightforward and towards the cause. The main bulk of idiopathic seminal defects (82%) really poses challenge to the infertologists so far management is concerned. In this study commonest seminal defect has been found to be oligoasthenozoospermia which amounts to 63% cases. For medical management purpose drugs commonly used are clomiphene, gonadotrophins, bromocriptine, L-thyroxine, vitamin E, B12, etc. When they fail the main approach remains to be intra-uterine insemination (IUI) and ART eg, in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI).

Efeito do tamoxifeno no perfil lipídico de ratos diabéticos por estreptozotocina / Effect of tamoxifen in lipids of diabetic rats induced by streptozotocin

OBJETIVO: avaliar o efeito do tamoxifeno no perfil lipídico e renal de ratos controles e diabéticos. MÉTODOS: Foram utilizados 40 ratos fêmeas Wistar (180-220g peso corporal), divididos randomicamente em 4 grupos: C (n=10, receberam veículo), T (n=10, tratados com tamoxifeno, 0,3mg/kg/dia), D (n=10, diabéticos induzidos por estreptozotocina, 45mg/Kg) e DT (n=10, diabéticos tratados com tamoxifeno). Foram dosados os analitos, glicose, colesterol total, triglicérides, proteínas totais, albumina, uréia e creatinina utilizando Kits Labtest através do analisador Cobas Mira (Alemanha,1996). RESULTADOS: o grupo T apresentou diminuição do colesterol total e triglicérides em relação ao C, e o grupo D um aumento em relação aos demais. Para as proteínas totais foi observado um aumento no Grupo T em relação ao C. A albumina diminuiu nos grupos D e DT em relação aos grupos C e T. Nos níveis de uréia houve um aumento no grupo D e DT em relação aos grupos C e T. CONCLUSÃO: Em relação ao perfil lipídico foi constatado que durante o período de 60 dias o tratamento com tamoxifeno promoveu uma diminuição dos níveis séricos de colesterol e triglicérides, mesmo associado a condição de Diabetes mellitus.

Uso do tamoxifeno no tratamento da tireoidite de Riedel: relato de um caso / Use of tamoxifen in the treatment of Riedel's thyroiditis: report of a case

O tratamento da tireoidite de Riedel (TR) consiste em cirurgia nos casos de fibrose local limitada. Na maioria dos casos, entretanto, necessita-se do uso de agentes antiinflamatórios, como os glicocorticóides ou, nos casos de falha ou recidiva, o tamoxifeno pode ser útil. Relatamos um caso de TR em uma mulher negra de 55 anos, associada a hipotireoidismo e hipoparatireoidismo. Avaliamos o tratamento com tamoxifeno na dose de 20mg duas vezes ao dia, durante onze meses. Após sessenta dias de tratamento, a paciente não relatava os sintomas compressivos antes apresentados. Entretanto, em um seguimento de onze meses, houve pouca melhora objetiva avaliada por ultrassonografia e tomografia seriados de região cervical. O tamoxifeno pode ser útil na TR, principalmente quando o uso do glicocorticóide é contra-indicado. A duração ideal do uso desta terapia não está definida.

Angioedema hereditário: considerações sobre terapia / Therapeutic approach of hereditary angioedema

OBJETIVOS: A primeira descrição clínica completa do angioedema hereditário (HAE) foi relatada por William Osler, em 1888. As formas de angioedema com deficiência de C1-INH são divididas em hereditárias e adquiridas. A terapêutica pode ser direcionada aos ataques agudos ou profilaxia de novos episódios. O tratamento de escolha é feito através de hormônios masculinizantes, podendo também ser indicado os inibidores da ativação do cininogênio e do plasminogênio como o ácido tranexâmico ou o ácido e-aminocapróico e a reposição de concentrado de C1-INH. O presente estudo relata a evolução de 10 pacientes (quatro famílias) acometidos por HAE e as peculiaridades do tratamento utilizado em cada caso. MÉTODOS: Dez pacientes (1-38 anos) com HAE foram diagnosticados através de história clínica e exames laboratoriais. Os testes realizados para avaliação do sistema complemento foram: dosagem sérica de C1-INH, C4 e C3 e ensaio hemolítico (CH50 e APH50) para as vias clássica e alternativa. O tratamento foi indicado de acordo com a gravidade dos sintomas, idade, sexo e resposta terapêutica. RESULTADOS: A avaliação clínica evidenciou 4/10 pacientes com edema subcutâneo recorrente; 3/10 pacientes com edema de laringe prévio e 3/10 pacientes com sintomas esporádicos. Sintomas de gravidade diferentes foram evidenciados na mesma família. A avaliação laboratorial (dosagem sérica) demonstrou: níveis de C1-INH diminuídos em 10/10; níveis diminuídos de C4 8/10; níveis indetectáveis de CH50 em 3/10 e diminuídos em 6/10; níveis diminuídos de APH50 em 2/10. 6/10 pacientes não receberam tratamento específico, sendo que dois deles apresentam alto risco para asfixia; uma adolescente tem sido controlada com ácido e-aminocapróico, uma criança que fazia uso de danazol passou a receber ácido tranexâmico, uma paciente de 30 anos recebe oxandrolona e um homem de 38 anos está em tratamento com danazol. CONCLUSAO: Apesar do HAE ser causado pelo mesmo defeito e acometer membros da mesma família, diferentes critérios têm sido estabelecidos para o tratamento desses pacientes. Foram indicados diferentes esquemas terapêuticos para HAE e alguns dos pacientes puderam ser seguidos sem terapia medicamentosa.

Hereditary and acquired angioedema: experience with patients in Puerto Rico

Hereditary (HAE) and acquired (AAE) angioedema are vascular reactions involving the sub mucosal tissues, representing localized edema caused by dilatation and increased permeability of the capillaries. HAE and AAE are clinical disorders characterized by angioedema that require prompt differentiation from other causes of angioedema in order to receive the most pertinent and effective therapeutic interventions. The aim of this report is to describe the clinical characteristics of patients with both HAE and AAE identified and followed at the Immunology Clinic of the University Hospital at the Puerto Rico Medical Center, their response and side effects to danazol therapy and their comparison with other series of similar patients reported in the literature. Overall, the patients in this sample presented a similar clinical profile compared to other reported series in the literature.

Antiestrógenos: mecanismo de acción y aplicaciones clínicas / Antiestrogens: Mechanism of action and clinical applications

Los antiestrógenos son compuestos que antagonizan la acción de los estrógenos compitiendo por su receptor. Los estrógenos están implicados en la proliferación y diferenciación de las células blanco y se consideran entre los principales factores de riesgo para el desarrollo de cáncer de mama y útero. Algunos antiestrógenos, entre ellos el Tamoxifén, son utilizados como terapia coadyuvante en el tratamiento del cáncer de mama y se ha propuesto su inclusión en los programas de prevención, en mujeres con alto riesgo. Los antiestrógenos se clasifican en tipo I o parciales (agonista/antagonista), y tipo II o puros (antagonista puro), los cuales tienen mecanismos de acción diferentes. Debido al continuo avance en el desarrollo de nuevos compuestos con actividad antiestrogénica, y su importancia aplicativa en clínica. En este documento se presenta una revisión del estado actual del conocimiento de estos compuestos, su mecanismo de acción y su aplicación clínica. El texto completo en inglés de este artículo está disponible en: http://www.insp.mx/salud/index.html