Importância do diagnóstico por imagem em pacientes com sangramento uterino anormal / Importance of diagnostic imaging in patients with abnormal uterine bleeding

O sangramento uterino anormal é diagnóstico sindrômico comum no consultório do ginecologista e pode comprometer substancialmente a qualidade de vida. O objetivo no diagnóstico de sangramento uterino anormal é distinguir pacientes com causas estruturais (anatômicas), como pólipo, adenomiose, leiomioma, malignidade e hiperplasia, de pacientes que apresentam anatomia normal, nas quais o sangramento pode ser devido a alteração dos mecanismos de coagulação, distúrbios ovulatórios, distúrbios primários do endométrio, iatrogenia, ou ter outra causa não classificada. O diagnóstico se inicia a partir de anamnese detalhada e exame físico geral e ginecológico completos, seguidos da solicitação de exames complementares (laboratoriais e de imagem), conforme indicado. O exame de imagem de primeira linha para identificação das causas estruturais inclui a ultrassonografia pélvica. Histerossonografia, histeroscopia, ressonância magnética e amostragem endometrial para exame de anatomia patológica são opções que podem ser incluídas no diagnóstico a depender da necessidade. O objetivo deste artigo é apresentar a relevância dos exames de imagem na investigação das causas de sangramento uterino anormal.

Abnormal uterine bleeding is one of the commonest presenting complaints encountered in a gynecologist's office and may substantially affect quality of life. The aim in the diagnosis of abnormal uterine bleeding is to distinguish women with anatomic causes such as polyp, adenomyosis, leiomyoma, malignancy and hyperplasia from women with normal anatomy where the cause may be coagulopathy, ovulatory disorders, endometrial, iatrogenic and not otherwise classified. Diagnosis begins with a thorough history and physical examination followed by appropriate laboratory and imaging tests as indicated. The primary imaging test for the identification of anatomic causes include ultrasonography. Saline infusion sonohysterography, magnetic resonance, hysteroscopy, endometrial sampling are options that can be included in the diagnosis depending on the need. The aim of this article is to present the relevance of imaging exams in the investigation of the causes of abnormal uterine bleeding.

Taquipnea persistente como manifestación inicial de hiperplasia de células neuroendocrinas: reporte de un caso clínico / Persistent tachypnea as initial manifestation of hyperplasia of neuroendocrine cells: case report

Se realiza revisión de la literatura y presentación de un caso clínico de Hiperplasia de Células Neuroendocrinas en paciente lactante masculino que inicia su padecimiento a los 3 meses de vida con dificultad respiratoria caracterizada por retracciones subcostales y taquipnea persistente, posterior-mente a los 8 meses de edad se agrega hipoxemia respirando aire ambiente que requiere uso de oxígeno suplementario continuo. Tiene antecedente de tres hospitalizaciones, con diagnóstico de Bronquiolitis y Neumonía atípica, realizándose panel viral respiratorio con reporte negativo. El paciente persiste con sintomatología respiratoria a pesar de tratamientos médicos, por lo que se deriva a neumología pediátrica, unidad de enfermedad pulmonar intersticial del lactante, iniciando protocolo de estudio, se realiza tomografía tórax de alta resolución, que evidencia imágenes en vidrio despulido en lóbulo medio y región lingular, además de atrapamiento aéreo. Se concluye el diagnóstico de Hiperplasia de Células neuroendocrinas con base a la clínica y hallazgos tomográficos. La Hiperplasia de Células Neuroendocrinas es una patología pulmonar intersticial poco frecuente, cuyo diagnóstico es clínico y radiológico, en la minoría de los casos se requiere biopsia pulmonar para confirmación. Puede ser fácilmente confundida con otras enfermedades respiratorias comunes, por lo que es importante sospecharla para realizar un diagnóstico precoz. La mayor parte de los casos evolucionan con declinación de los síntomas, mejorando espontáneamente en los primeros años de vida.

A review of the literature and presentation of a clinical case of Neuroendocrine Cell Hyperplasia in a male infant patient who begins his condition at 3 months of age with respiratory distress characterized by subcostal retractions and persistent tachypnea is presented. After 8 months of age hypoxemia is added requiring continuous oxygen therapy. He has a history of three hospitalizations, with a diagnosis of bronchiolitis and atypical pneumonia, respiratory viral panel has a negative report. The patient persists with respiratory symptoms despite medical treatments, so it is referred to pediatric pulmonology, initiating study protocol for interstitial lung disease of the infant. A high resolution chest tomography is performed, which evidences images in polished glass in the middle lobe and lingular region, in addition to air entrapment. The diagnosis of neuroendocrine cell hyperplasia is concluded based on clinical and tomographic findings. Neuroendocrine Cell Hyperplasia is a rare interstitial pulmonary pathology, whose diagnosis is clinical and radiological. Lung biopsy is required only in the minority of cases for confirming diagnosis. It can be easily confused with other common respiratory diseases, so it is important to suspect it to make an early diagnosis. Most cases evolve with decline in symptoms, improving spontaneously in the first years of life.

Clinical Characterization of Patients with Ovarian Mass Combined with Dysplasia of Secondary Sexual Characteristics / 中国医学科学院学报

Objective To investigate the clinical characteristics of preadolescent and adolescent female patients with ovarian mass combined with dysplasia of secondary sexual characteristics. Methods This study retrospectively analyzed 18 cases of ovarian mass combined with dysplasia of secondary sexual characteristics aged 0-19 years admitted to Peking Union Medical College Hospital from January 2012 to November 2019.By analyzing the clinical manifestations,surgical methods,postoperative pathology,therapies and prognosis of the cases,we summarized the diagnosis and treatment ideas. Results Among the 18 cases,7(7/18,38.9%)developed secondary sex signs before puberty,including 5 cases showing precocity(including 2 cases of juvenile granulosa cell tumor,1 case of gonadoblastoma,1 case of ovarian follicular cyst,and 1 case of 46,XY simple gonadal dysplasia combined with dysgerminoma)and 2 cases presenting masculine manifestations(1 case of steroid cell tumor and 1 case of sclerosing stromal tumor).The rest 11(11/18,61.1%)cases showed abnormal development of secondary sexual characteristics during puberty,including 8 cases with masculine manifestations or abnormal menstruation after menarche(7 cases with sex cord stromal cell tumor and 1 case with cystic granulosa cell tumor),2 cases with primary amenorrhea(1 case with androgen insensitivity syndrome combined with testicular sertoli cell tumor and 1 case with endometriosis cyst combined with reproductive tract malformation),and 1 case diagnosed as 46,XX gonadal dysplasia with serous cystadenoma and no secondary sexual development during puberty. Conclusions Sex hormone levels should be actively tested in the case of prepubertal secondary sexual characteristics appearing early,pubertal secondary sexual characteristics being abnormal(underdevelopment),and/or menstrual abnormalities.Imaging examination should be performed to exclude ovarian organic lesions,and chromosome karyotype analysis should be performed if necessary.The diagnosis of ovarian mass in preadolescent and adolescent females with related symptoms should first be alerted to cord stromal cell tumor.It is recommended to rule out the possibility of combined reproductive tract malformation in the adolescent patients with primary amenorrhea.Chromosome examination should be conducted to rule out the possibility of gonadal dysplasia in the adolescent patients with primary amenorrhea and/or no development of secondary sexual characteristics.

Leucotrienos urinarios en pacientes pediátricos con trastorno respiratorio del sueño secundario a hiperplasia adenoamigdalina / Urinary leukotrienes in pediatric patients with sleep disordered breathing secondary to adenotonsillar hypertrophy

RESUMEN Introducción: El trastorno respiratorio del sueño (TRS) afecta al 2% a 3% de la población pediátrica, siendo la hiperplasia adenoamigdalina (HAA) su principal causa. Se ha observado un aumento en los niveles de leucotrienos excretados en orina (LTU) en estos pacientes, los cuales se correlacionarían con la severidad de la enfermedad. Objetivo: Determinar el nivel de LTU en niños con TRS e HAA antes y después de adenoamigdalectomía (AA), y en controles sanos. Correlacionar los niveles de LTU con los síntomas de TRS. Material y método: Estudio prospectivo. Se incluyeron pacientes con TRS e HAA (n =12) y controles sanos (n =12). Se determinó la concentración de LTU en ambos grupos de forma basal y un mes después de cirugía en el grupo con TRS. Resultados: No hubo diferencias en los niveles de LTU antes y después de AA. Tampoco existieron diferencias entre el grupo control y grupo TRS previo a la cirugía. No se encontró asociación entre LTU y la severidad de síntomas respiratorios. Conclusión: Los LTU no se encuentran elevados en pacientes con TRS e HAA, no disminuyen luego de AA y no se correlacionan con la severidad de los síntomas. La medición de LTU no sería una herramienta útil en la evaluación de pacientes con TRS. Nuevos estudios son necesarios para evaluar el rol de los leucotrienos en esta enfermedad.

ABSTRACT Introduction: Sleep disorder breathing (SDB) affects 2%-3% of the pediatric population, being adenotonsillar hyperplasia (ATH) its main cause. An increase in the levels of urinary leukotrienes (ULT) has been measured in these patients, which could be correlated with the severity of the disease. Aim: To determine the level of ULT in children with SDB and ATH before and after adenotonsillectomy, and healthy controls. To correlate the levels of ULT with symptoms of SDB. Material and method: prospective study. SDB and ATH patients (n =12) and healthy controls (n =12) were included. The concentration of ULT in both groups was determined, before surgery and after a month of surgery. Results: There were no differences in the levels of ULT before and after tonsillectomy in the studied group. There were also no differences between the control group and the SDB group. No association was observed between the level of ULT and the severity of respiratory symptoms. Conclusions: ULT are not elevated in patients with SDB and ATH and they do not decrease after adenotonsillectomy. ULT are not correlated with the severity of the symptoms of SDB. The measurement of ULT would not be a useful tool in the evaluation of patients with SDB. New studies are needed to assess the role of the role of leukotrienes in this disease.

Pulmonary hypertension evaluation by Doppler echocardiogram in children and adolescents with mouth breathing syndrome / Avaliação de hipertensão pulmonar pela ecodopplercardiografia em crianças e adolescentes com síndrome do respirador oral

Abstract Introduction: Adenotonsillar hyperplasia (ATH) and allergic rhinitis (AR) are the most common causes of upper airway obstruction in children. Such diseases, by affecting the upper airways, can cause chronic alveolar hypoventilation, pulmonary vasoconstriction and pulmonary hypertension, which in some cases, are irreversible. Objective: This cross-sectional study aimed to evaluate the prevalence of pulmonary hypertension in two groups of mouth-breathing (MB) 2-12 years old children with ATH and isolated allergic rhinitis, through Doppler echocardiography. Methods: 54 patients with ATH and indications for adenoidectomy and/or tonsillectomy and 24 patients with persistent allergic rhinitis were selected and submitted to Doppler echocardiography. The Systolic Pulmonary Artery Pressure (SPAP) was determined by tricuspid regurgitation and the Mean Pulmonary Artery Pressure (MPAP) was calculated from the SPAP. Similar measurements were carried out in 25 nasal breathing (NB) individuals. Results: The mean MPAP and SPAP were higher in the MB than in the NB group (17.62 ± 2.06 [ATH] and 17.45 ± 1.25 [AR] vs. 15.20 ± 2.36 [NB] mmHg, p < 0.005, and 25.61 ± 3.38 [ATH] and 25.33 ± 2.06 [AR] vs. 21.64 ± 3.87 [NB] mmHg, p < 0.005, respectively) and the mean acceleration time of pulmonary flow trace (Act) was higher in the NB than in the MB group (127.24 ± 12.81 [RN] vs. 114.06 ± 10.63 ms [ATH] and 117.96 ± 10.28 [AR] MS [AR]; p < 0.0001). Conclusion: None of the MB children (ATH and AR) met the PH criteria, although individuals with both ATH and isolated AR showed significant evidence of increased pulmonary artery pressure by Doppler echocardiography in relation to NB individuals. No differences were observed between the ATH and AR groups.

Resumo Introdução: A hiperplasia adenotonsilar (HAT) e a rinite alérgica (RA) consistem nas causas mais comuns de obstrução de vias aéreas superiores em crianças. Tais afecções, ao comprometer a via aérea superior, podem ocasionar hipoventilação alveolar crônica, vasoconstrição pulmonar e hipertensão pulmonar, em alguns casos irreversível. Objetivo: Este estudo transversal objetivou avaliar a prevalência de hipertensão arterial pulmonar em dois grupos de crianças respiradoras orais (RO): com HAT e rinite alérgica isolada, de 2 a 12 anos, por meio de exame ecodopplercardiográfico. Método: Foram selecionados e submetidos à ecodopplercardiografia 54 pacientes com HAT com indicação de adenoidectomia e/ou tonsilectomia e 24 pacientes com rinite alérgica persistente. A pressão sistólica da artéria pulmonar (PSAP) foi determinada pela regurgitação tricúspide e a pressão média da artéria pulmonar (PMAP) foi calculada a partir da PSAP. Determinações similares foram feitas em 25 respiradores nasais (RN). Resultados: As médias da PMAP e da PSAP foram maiores nos grupos de RO do que nos RN (17,62 ± 2,06 [HAT] e 17,45 ± 1,25 [RA] vs. 15,20 ± 2,36 [RN] mmHg; p < 0,005; e 25,61 ± 3,38 [HAT] e 25,33 ± 2,06 [RA] vs. 21,64 ± 3,87 [RN] mmHg; p < 0,005; respectivamente) e a média do tempo de aceleração do traçado do fluxo pulmonar (TAc) foi maior nos RN que nos grupos de RO (127,24 ± 12,81 [RN] vs. 114,06 ± 10,63 ms [HAT] e 117,96 ± 10,28 [RA] MS [RA]; p < 0,0001). Conclusão: Nenhuma criança respiradora oral (HAT e RA) preencheu os critérios de HP, embora tanto os portadores de HAT quanto de RA isolada apresentaram evidências significativas de aumento da pressão arterial pulmonar pela ecodopplercardiografia em relação aos respiradores nasais. Não se observou diferença entre os grupos HAT e RA.

Tratamento da assimetria facial causada por hiperplasia condilar: série de casos / Treatment of facial asymmetry caused by condylar hyperplasia: case series

Introdução: a hiperplasia do côndilo (HC) mandibular tem sido descrita como o crescimento excessivo de um dos côndilos sobre o contralateral, causando um crescimento desequilibrado, que resulta em assimetria facial. A classificação e o diagnóstico da HC, a atividade de crescimento dos côndilos, e as formas de tratamento foram abordados no presente estudo. Material e Métodos: foram descritas as formas de tratamento de três pacientes apresentando HC. As soluções cirúrgicas são representadas por condilectomia, cirurgia ortognática, e uma combinação de ambos. Resultados: após a realização do procedimento cirúrgico específico indicado para cada caso, houve melhora significativa na simetria facial e na função mastigatória. Conclusões: o diagnóstico da HC se baseia em achados clínicos e radiológicos, e esses avaliam as consequências do crescimento desproporcional. A cintilografia óssea funciona como um indicador da rapidez da progressão dessa condição, sendo essencial no planejamento cirúrgico do tratamento

A Case of Alpha-cell Nesidioblastosis and Hyperplasia with Multiple Glucagon-producing Endocrine Cell Tumor of the Pancreas / 대한소화기학회지

Nesidioblastosis is a term used to describe pathologic overgrowth of pancreatic islet cells. It also means maldistribution of islet cells within the ductules of exocrine pancreas. Generally, nesidioblastosis occurs in beta-cell and causes neonatal hyperinsulinemic hypoglycemia or adult noninsulinoma pancreatogenous hypoglycemia syndrome. Alpha-cell nesidioblastosis and hyperplasia is an extremely rare disorder. It often accompanies glucagon-producing marco- and mircoadenoma without typical glucagonoma syndrome. A 35-year-old female was referred to our hospital with recurrent acute pancreatitis. On radiologic studies, 1.5 cm sized mass was noted in pancreas tail. Cytological evaluation with EUS-fine-needle aspiration suggested serous cystadenoma. She received distal pancreatectomy. The histologic examination revealed a 1.7 cm sized neuroendocrine tumor positive for immunohistochemical staining with glucagon antibody. Multiple glucagon-producing micro endocrine cell tumors were scattered next to the main tumor. Additionally, diffuse hyperplasia of pancreatic islets and ectopic proliferation of islet cells in centroacinar area, findings compatible to nesidioblastosis, were seen. These hyperplasia and almost all nesidioblastic cells were positive for glucagon immunochemistry. Even though serum glucagon level still remained higher than the reference value, she has been followed-up without any evidence of recurrence or hormone related symptoms. Herein, we report a case of alpha-cell nesidioblastosis and hyperplasia combined with glucagon-producing neuroendocrine tumor with literature review.

Preoperative Predictive Factors for Parathyroid Carcinoma in Patients with Primary Hyperparathyroidism

This study was conducted to review the clinical characteristics of parathyroid carcinoma (PC) and to evaluate potential preoperative predictive factors for PC in patients with primary hyperparathyroidism (PHPT). We performed a retrospective review of electronic medical records of 194 patients with pathologically confirmed PHPT in affiliated teaching hospitals of Seoul National University from January 2000 to March 2011. Adenoma was diagnosed in 171 patients, hyperplasia in 12, and carcinoma in 11. Several biochemical measurements were higher in patients with PC than in patients with benign disease, including serum total calcium (P < 0.001), intact parathyroid hormone (P = 0.003), and alkaline phosphatase (ALP) (P < 0.001). Tumors were larger in PC than in benign disease (P < 0.001). Multivariate analysis revealed that serum ALP level (P < 0.001) and tumor size were associated with PC (P = 0.03). Tumor size and serum ALP level were evaluated as preoperative predictive factors for PC using ROC analyses: a tumor size of 3.0 cm (sensitivity 90.9%, specificity 92.1%) and serum ALP level of 285 IU/L (83.3%, 97.0%) had predictive value for the diagnosis of PC in patients with PHPT. In conclusion, elevated serum ALP and a large parathyroid mass at the time of diagnosis can be helpful to predict PC in patients with PHPT.

Adenotonsillectomy in facial growing patients: spontaneous dental effects / Adenotonsilectomia em pacientes na fase de crescimento facial: efeitos dentários espontâneos

Children with hypertrophic tonsils and adenoids may have adverse effects on dental occlusion, which tend to worsen during the growth period. Diagnosis and early treatment is essential. AIM: Prospective clinical study to compare the cephalometric measurements before and after adenotonsillectomy in mouth breathing patients. MATERIAL AND METHOD: We had 38 patients of both genders, aged between 7 and 11 years in our sample, broken down into: oral group, 18 patients with obstructive hypertrophy of pharyngeal tonsil and/or palate grade 3 or 4; control group, 20 patients with normal breathing. Angular and linear dental measurements were compared between the groups in a 14 months interval. We used the "t" Student and Wilcoxon tests for unpaired samples, at 5 percent significance, for statistical purposes. RESULTS: The sagittal position and axial angle of the lower incisors increased significantly in the group with oral breathing, the sagittal position of the upper incisors increased significantly in the oral group, which still had a significant increase in overbite. CONCLUSION: Adenotonsillectomy was very effective in improving some dental measurements, with benefits to growing patients preventing malocclusions from becoming difficult to treat or permanent.

Crianças com tonsilas e adenoides hipertróficas podem apresentar efeitos desfavoráveis na oclusão dentária, que tendem a agravar no período de crescimento, tornando imprescindível seu diagnóstico e tratamento precoce. OBJETIVO: Este estudo clínico prospectivo comparou medidas cefalométricas dos incisivos antes e após a adenotonsilectomia, em respiradores orais. MATERIAL E MÉTODO: A amostra foi de 38 pacientes de ambos os gêneros, entre 7 e 11 anos, dividida em: grupo oral, com 18 pacientes com hipertrofia obstrutiva da tonsila faríngea e/ou palatinas grau 3 ou 4; grupo controle, com 20 pacientes com respiração nasal. Medidas dentárias angulares e lineares foram comparadas entre os grupos, antes e após adenotonsilectomia, em um intervalo de 14 meses. A análise estatística utilizou os testes t-Student e Wilcoxon para amostras não pareadas, ao nível de significância de 5 por cento. RESULTADOS: A inclinação axial e a posição sagital dos incisivos inferiores aumentaram significativamente no grupo com respiração oral; o posicionamento sagital dos incisivos superiores aumentou significativamente no grupo oral, que ainda obteve aumento significativo de sobremordida. CONCLUSÃO: A adenoamigdalectomia se mostrou bastante eficaz na melhora de algumas medidas dentárias, com benefícios aos pacientes em crescimento, prevenindo que más oclusões dentárias tenham difícil tratamento ou se tornem definitivas.

Intervención farmacológica con calcitonina en gramagrafía con 99mTc-Sestamibi de dos fases para localización de adenoma y/o hiperplasia de paratiroides / Pharmacologic intervention with calcitonin in 99mTc-Sestamibi scintigraphy for patients with primary hyperparathyroidism

Introducción. En el diagnóstico de enfermedad paratiroidea, persiste la necesidad de contar con un procedimiento eficiente que contribuya a tomar la mejor decisión respecto al manejo del paciente; con este propósito se desarrolló un estudio retrospectivo para evaluar el rendimiento de la gamagrafía con 99mTc-Sestamibi luego de la intervención farmacológica con calcitonina en pacientes con diagnóstico de hiperparatiroidismo primario. Método Se incluyeron pacientes con diagnóstico de hiperparatiroidismo primario que fueron evaluados de forma consecutiva con gamagrafía de paratiroides utilizando el protocolo habitual de 99mTc-Sestamibi en dos fases, y el estudio de 99mTc-Sestamibi-calcitonina, con seguimiento mínimo de 6 meses post gamagrafía. Se calculó la sensibilidad (SENS), especificidad (ESP) y exactitud (EXAC) para cada protocolo, entre otros valores estadísticos. Resultados. Los pacientes que fueron sometidos a gamagrafía basal y post-calcitonina fueron 42, de los cuales 35 tuvieron seguimiento completo: a) Estudio Basal: SENS 65,6 por ciento, ESP 100 por ciento, EXAC 68,5 por ciento. Al diferenciarlos por patologías: para adenoma, SENS 53,8 por ciento, ESP 54,5 por ciento; para hiperplasia, SENS 25 por ciento, ESP 90 por ciento. b) Estudio Post-Calcitonina: SENS 92,3 por ciento, ESP 43,5 por ciento, EXAC 94,3 por ciento. Para adenoma, SENS 92,3 por ciento, ESP 45,5 por ciento; para hiperplasia, SENS 25 por ciento, ESP 77,4 por ciento. Conclusiones. Nuestros resultados utilizando el protocolo con calcitonina demuestran aumento de la sensibilidad global, ayuda a clasificar mejor los pacientes con enfermedad paratiroidea e incrementa la exactitud diagnóstica.

Introduction. There is a need to improve the methods for the diagnosis of parathyroid disease allowing to make the most appropriate therapeutic decision. With this purpose, we performed a retrospective study in order to evaluate the diagnostic accuracy of 99mTc-Sestamibi scintigraphy after pharmacologic intervention with calcitonin in patients with primary hyperparathyroidism. Methods. Patients with diagnosis of primary hyperparathyroidism were included, who were consecutively evaluated with parathyroid scintigraphy using the standard double-phase 99mTc-Sestamibi protocol and a study with 99mTc-Sestamibi-calcitonin, having received a follow-up of at least 6 months after the nuclear study. Sensitivity (SENS), specificity (SPE) and accuracy (ACC) were calculated for each protocol, among other statistical parameters. Results. Fourty-two patients were submitted for basal and post-calcitonin scintigraphy, of which 35 had a complete follow-up. a) Basal study: SENS 65,6 percent, SPE 100 percent, ACC 68,5 percent. After classification according to pathology: for adenoma, SENS 53,8 percent, SPE 54,5 percent; for hyperplasia, SENS 25 percent, SPE 90 percent. b) Post-calcitonin study: SENS 92,3 percent, SPE 43,5 percent, ACC 94,3 percent. For adenoma, SENS 92,3 percent, SPE 45,5 percent; for hyperplasia, SENS 25 percent, SPE 77,4 percent. Conclusions Our results using calcitonin protocol demonstrate an increase in global sensitivity, helping to better classify patients with parathyroid disease by improving diagnostic accuracy.

A Case of Giant Brunner's Gland Hyperplasia Combined with Adenomyomatous Hyperplasia / 대한소화기학회지

Brunner's gland hyperplasia is a rare tumor of the duodenum and might also be an unusual cause of gastrointestinal bleeding. In symptomatic patients, treatment requires either surgical resection or endoscopic polypectomy. We report a case of upper gastrointestinal bleeding from a pedunculated Brunner's gland hyperplasia in the duodenal bulb. Endoscopic resection using the detachable snare and hemoclipping was instituted to remove a large pedunculated polyp. The pathologic diagnosis was Brunner's gland hyperplasia with adenomyomatous hyperplasia.

effects of adenotonsillectomy on pulmonary arterial pressure by doppler echocardiography in children

Increeased upper-air way resistance resulting from hypertrophic tonsils and adenoids can cause intermittent airway obstruction, chronic alveolar hypoventilation, and even severe cardiopulmonary complications like pulmonary hypertension and corpulmonale. The aim of this study is to clarify whether tonsillectomy and adenoidectomy have any effect on mean pulmonary arterial pressure. This prospective study was approved by ethic committee. Thirty two randomly selected children [16 male, 16 female] aged between 3.5 and 13 [mean 7.06 +/- 1] with a diagnosis of upper airway obstruction or chronic infections from hypertrophied tonsils and adenoids were included in our study. Mean pulmonary arterial pressure [MPAP] was measured using Doppler echocardiography preoperatively and mean 4.25 +/- 0.46 months postoperatively in all subjects. Comparing preoperative and postoperative mean pulmonary arterial pressure showed a statistically significant decrease in mean pulmonary arterial pressure in these children [Preoperative mean PAP=19.37 +/- 0.82, postoperative mean PAP= 18.10 +/- 0.6]. [p=0.004]. 10 of the 32 subjects in the study group were pulmonary hypertensive preoperatively. MPAPs of 9 of these children decreased to normal range. [P=0.004]. This study showed that obstructive adenoid and tonsillar hypertrophy causes higher MPAP values in children that would be reversible by performing early adenotonsillectomy

Cellular and molecular abnormalities of a macronodular adrenal hyperplasia causing beta-blocker-sensitive Cushing's syndrome

Cushing's syndrome due to ACTH-independent macronodular adrenal hyperplasia (AIMAH) can be associated with abnormal responses of aberrantly expressed adrenocortical receptors. This study aimed to characterize in vitro the pathophysiology of hypercortisolism in a b-blocker-sensitive Cushing's syndrome due to AIMAH. Cortisol secretion profile under aberrant receptors stimulation revealed hyperresponsiveness to salbutamol (beta2-adrenoceptor agonist), cisapride (5-HT4 receptor agonist), and vasopressin in AIMAH cultured cells, but not in normal adrenocortical cells. By RT-PCR, AIMAH tissues revealed beta2-adrenoceptor overexpression rather than ectopical expression. MC2R expression was similar in both AIMAH and normal adrenocortical tissues. Curiously, cortisol levels of AIMAH cells under basal condition were 15-fold higher than those of control cells and were not responsive to ACTH. Analysis of culture medium from AIMAH cells could detect the presence of ACTH, which was immunohistochemically confirmed. Finally, the present study of AIMAH cells has identified: a) cortisol hyperresponsiveness to catecholamines, 5-HT4 and vasopressin in vitro, in agreement with clinical screening tests; b) abnormal expression of beta2-adrenoceptors in some areas of the hyperplastic adrenal tissue; c) autocrine loop of ACTH production. Altogether, the demonstration of aberrant responses to hormonal receptors and autocrine hormone production in the same tissue supports the assumption of multiple molecular alterations in adrenal macronodular hyperplasia.

A síndrome de Cushing secundária à hiperplasia adrenal macronodular independente de ACTH (AIMAH) pode estar associada com respostas anômalas a estímulos sobre receptores hormonais expressos de maneira aberrante no córtex adrenal. O objetivo deste trabalho foi caracterizar a fisiopatologia do hipercortisolismo in vitro na síndrome de Cushing responsiva a beta-bloqueadores decorrente de AIMAH. Em cultura de células, a secreção de cortisol apresentou resposta aumentada ao salbutamol (agonista beta2-adrenérgico), à cisaprida (agonista de receptor 5-HT4) e à vasopressina, na AIMAH mas não no córtex adrenal normal. O estudo de receptores aberrantes por RT-PCR demonstrou que o gene do receptor beta2-adrenérgico estava superexpresso (e não expresso ectopicamente) nos fragmentos da AIMAH quando comparado ao tecido normal. A expressão de MC2R foi semelhante em ambos. Curiosamente, o nível basal de secreção de cortisol pelas células da AIMAH foi 15 vezes superior às células normais, não havendo resposta das células AIMAH ao estímulo com ACTH. A análise do meio de cultura das células AIMAH revelou a presença de ACTH, que foi confirmada por estudo imuno-histoquímico. Em suma, este estudo demonstrou: a) aumento dos níveis de cortisol in vitro em resposta a catecolaminas, 5-HT4 e vasopressina, correspondendo aos resultados dos testes clínicos para pesquisa de receptores aberrantes; b) expressão anormal de receptores beta2-adrenérgicos em algumas áreas de hiperplasia; c) produção autócrina de ACTH. Estes resultados envolvendo ativação de receptores aberrantes e estímulo hormonal autócrino no mesmo tecido favorecem a hipótese da existência de alterações moleculares múltiplas na hiperplasia adrenal macronodular.

Cushing's syndrome secondary to ACTH-Independent macronodular adrenal hyperplasia

ACTH-Independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of endogenous Cushing's syndrome (CS), in which clinical features usually become apparent only after several decades of life. This form of adrenal hyperplasia typically produces excess cortisol with overt or subclinical CS, but concurrent secretion of mineralocorticoids or sexual steroids can also occur. The diagnosis is suspected by bilateral adrenal nodules larger than 1 cm on incidental imaging studies or following the demonstration of ACTH-independent hormonal hypersecretion. The pathophysiology of this entity is heterogeneous and has been intensely explored in recent years. Several G-protein coupled receptors aberrantly expressed in the adrenal cortex have been implicated in the regulation of steroidogenesis and in the initial cell proliferation in AIMAH. Several familial cases of AIMAH have been recently described with the same pattern of aberrant hormone receptors in all affected members of the family. It is probable that additional somatic genetic events related to cell cycle regulation, adhesion and transcription factors occur in addition over time in the various nodules; other mechanisms, as Gsp or ACTH receptor mutations and paracrine adrenal hormonal secretion have been rarely identified as the molecular mechanism in some cases. When systematically screened, most patients with AIMAH exhibit an in vivo aberrant cortisol response to one or various ligands suggesting the presence of aberrant adrenal receptors. The identification of these receptors creates the possibility of a specific pharmacological treatment isolated or associated with adrenalectomy.

A hiperplasia adrenal macronodular independente de ACTH (AIMAH) é uma causa rara de síndrome de Cushing (SC) endógena, na qual alguns aspectos clínicos só se tornam evidentes depois de várias décadas de vida. Esta forma de hiperplasia adrenal caracteristicamente produz excesso de cortisol resultando na síndrome de Cushing franca ou subclínica, embora a secreção concomitante de mineralocorticóide, estrógeno e andrógenos também possa ocorrer. A suspeita diagnóstica é feita pela presença de nódulos adrenais bilaterais maiores que 1 cm, como achado incidental em exames de imagem ou pela demonstração de hipersecreção hormonal independente de ACTH. A fisiopatologia desta doença é heterogênea e tem sido intensamente estudada nos últimos anos. Vários receptores acoplados à proteína G, com expressão aberrante no córtex adrenal, têm sido implicados na regulação da esteroidogênese e no início da proliferação celular que ocorre na AIMAH. Diversos casos familiais de AIMAH foram recentemente descritos, e um mesmo padrão de expressão anormal dos receptores aberrantes foi observado em todos os membros afetados das famílias investigadas. Ao longo do tempo, é provável que ocorram, nos nódulos, eventos genéticos adicionais relacionados à regulação do ciclo celular, adesão e fatores de transcrição. Outros mecanismos moleculares, como mutações nos genes da proteína Gsa e do receptor de ACTH, ou secreção hormonal parácrina na adrenal, têm sido raramente identificados em alguns casos. A maioria dos pacientes com AIMAH, quando sistematicamente investigados, desenvolve uma produção anormal de cortisol em resposta a vários ligantes, sugerindo a presença de receptores adrenais aberrantes. A identificação destes receptores cria a possibilidade para um tratamento farmacológico específico isolado ou associado à adrenalectomia.

Primary pigmented nodular adrenocortical disease and Cushing's syndrome

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing's syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules (1,2). PPNAD may occur in an isolated form or associated with a multiple neoplasia syndrome, the complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing's syndrome is the most common endocrine manifestation (3). Molecular studies have led to the identification of several genes, defects in which may predispose PPNAD formation; all of these molecules play important role for the cAMP signaling pathway. This review intends to present the most recent knowledge of the pathology and molecular genetics of the benign bilateral adrenocortical lesions, as well as to discuss the modern tools for diagnostics and treatment of this condition.

A doença adrenocortical nodular pigmentada primária (PPNAD) é uma forma de hiperplasia adrenocortical bilateral que está freqüentemente associada com a síndrome de Cushing (SC) ACTH-independente, sendo caracterizada por glândulas adrenais de tamanho pequeno ou normal contendo múltiplos nódulos corticais pigmentados pequenos. PPNAD pode ocorrer de forma isolada ou associada com uma síndrome de neoplasia múltipla, o complexo de manchas pigmentadas na pele (lentigíneas), mixomas e hiperatividade endócrina, ou complexo de Carney, no qual a SC é a manifestação endócrina mais comum. Estudos moleculares levaram à identificação de vários genes que, quando mutados, podem predispor à formação da PPNAD; todas essas moléculas têm um papel importante na via de sinalização do AMPc. Esta revisão pretende apresentar os conhecimentos mais recentes sobre a patologia e a genética molecular das lesões adrenocorticais benignas bilaterais e discutir os modernos instrumentos para diagnóstico e tratamento dessa condição.

Pediatric Cushing's syndrome: clinical features, diagnosis, and treatment: [review]

Cushing's syndrome (CS) results from prolonged exposure to supraphysiological levels of circulating glucocorticoids, endogenously or exogenously derived. Although rare in childhood, CS remains a difficult condition to diagnose and treat. A multidisciplinary approach and close collaboration with adult colleagues is adopted at most large centres that manage pediatric CS patients. Although pediatric protocols are derived from adult data, significant differences exist between adult and childhood CS. Furthermore, long term outcome parameters including final height, bone mineral density, reproductive function, body composition and psychological health pose challenges for pediatric care. This article will aim to provide an overall view of pediatric CS highlighting some of the differences between adult and pediatric CS.

A síndrome de Cushing (SC) resulta da exposição prolongada a níveis suprafisiológicos de glicocorticóides circulantes, tanto endógenos como de seus derivados exógenos. Embora rara na infância, a SC permanece uma condição difícil de ser diagnosticada e tratada. Uma avaliação multidisciplinar e a colaboração próxima com colegas da área não-pediátrica são adotadas na maioria dos grandes centros que cuidam de pacientes pediátricos com SC. Embora os protocolos pediátricos sejam derivados de dados em adultos, existem diferenças significativas entre a SC no adulto e na infância. Além disso, parâmetros evolutivos finais, incluindo altura final, densidade mineral óssea, função reprodutiva, composição corporal e saúde psicológica trazem desafios no cuidado pediátrico. Este artigo procura oferecer uma visão geral da SC pediátrica, focalizando algumas das diferenças entre a SC adulta e a pediátrica.

Avaliação da pressão inspiratória em crianças com aumento do volume de tonsilas / Evaluation of inspiratory pressure in children with enlarged tonsils and adenoids

Crianças com aumento do volume de tonsilas palatina e faríngea freqüentemente apresentam anormalidades respiratórias tais como ronco, respiração oral e apnéia do sono. Sabe-se que a obstrução de vias aéreas superiores e conseqüentemente a respiração oral podem resultar em problemas pulmonares. OBJETIVO: Avaliar a pressão inspiratória em crianças com obstrução de vias aéreas superiores devido ao aumento do volume de tonsilas. FORMA DE ESTUDO: clínico com coorte transversal. MATERIAL E MÉTODO: Nós avaliamos 37 crianças (4-13 anos, ambos os sexos) com aumento do volume de tonsilas que seriam submetidas à cirurgia de Adenoamigdalectomia na Divisão de Otorrinolaringologia da Universidade de São Paulo no mesmo período. O grupo controle foi composto de 28 crianças sem aumento de volume tonsilar que foram submetidas aos mesmos testes. A pressão Inspiratória foi obtida pelo uso do manovacuômetro. RESULTADOS: Observamos uma menor pressão inspiratória no grupo com aumento do volume de tonsilas. A média do grupo com aumento do volume das tonsilas foi 14,607 cm/H2O e do grupo normal foi de 27,580 cm/H2O (P< 0,001). CONCLUSÃO: O aumento de volume de tonsilas palatina e faríngea foi associado a uma menor pressão inspiratória, resultando em um aumento do esforço respiratório e do trabalho dos músculos envolvidos.

Urethral obstruction due to lobular mesonephric hyperplasia of the vagina--a case report.

The histological finding of persistent mesonephric duct remnants in the uterine cervix and vagina is uncommon and is usually an incidental finding in tissues excised for other reasons. Herein we present a case of lobular mesonephric hyperplasia in a 45 year old woman who presented with vaginal bleeding and difficulty passing urine.

Tumores pardos en múltiples localizaciones: manifestación de osteodistrofia renal severa. Caso clínico / Brown tumors in multiple locations: manifestation of severe renal osteodystrophy. Case report

We report a 25 years old woman with a four years history of end stage renal disease on hemodialysis. During the last two years of follow up, multiple tender nodules appeared in the left clavicle and ribs. These were diagnosed as brown tumors, secondary to osteitis fibrosa cystica, in the context of a secondary hyperparathyroidism. A subtotal parathyroidectomy was performed and a homologous parathyroid implant was done in the right forearm. The pathological study of the surgical pieces confirmed the presence of the brown tumors and parathyroid hyperplasia. Nine months after surgery, parathormone levels and brown tumor calcifications decreased significantly and bone mineral density increased by 20 per cent.