Síndrome de Silver-Russell: Características clínicas, de neurodesenvolvimento e comunicação: Estudo de casos clínicos / Silver-Russell syndrome: clinical, neurodevelopmental and communication characteristics: clinical case studies

RESUMO A Síndrome de Silver Russel (SSR) é uma condição geneticamente heterogênea com fenótipo clínico que inclui restrição do crescimento intrauterino e pós-natal, alterações craniofaciais, assimetrias corporais, baixo índice de massa corporal e dificuldades alimentares. Há expectativa de alterações do desenvolvimento motor, da coordenação global e de fala. O presente estudo tem como objetivo apresentar características da síndrome, do neurodesenvolvimento e comunicação de três crianças do sexo masculino, com diagnóstico da síndrome, na faixa etária de 16, 18 e 44 meses, respectivamente. Cumpriram-se os critérios éticos. Foi realizada análise de prontuário, com objetivo de coletar informações da anamnese realizada com os responsáveis, e da avaliação realizada com as crianças. A avaliação foi realizada por meio da aplicação dos seguintes instrumentos: Observação do Comportamento Comunicativo (OCC), Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e o Early Language Milestone Scale (ELMS). O levantamento de características confirmou a hipótese da SSR; na OCC verificou-se atraso nos comportamentos comunicativos para todos os participantes; no TSDD-II verificou-se atraso nas habilidades motora grossa, motora fina-adaptativa, linguagem e pessoal social. Na ELM verificou-se escores aquém do esperado para as funções auditiva receptiva e auditiva expressiva com habilidades receptivas mais desenvolvidas do que as habilidades expressivas. A SSR merece ser reconhecida pela comunidade científica, uma vez que as características fenotípicas e os dados de vida pregressa, possibilitam que seja levantada a hipótese da síndrome, visando o diagnóstico correto precocemente e um planejamento terapêutico que minimize os efeitos deletérios desta condição.

ABSTRACT Silver Russell Syndrome (SRS) is a genetically heterogeneous condition with a clinical phenotype that includes intrauterine and postnatal growth restriction, craniofacial alterations, body asymmetries, low body mass index, and feeding difficulties. Alterations in motor development, global coordination, and speech are expected. The current study aims to present the syndrome, neurodevelopment, and communication characteristics of three male children diagnosed with the syndrome, aged 16, 18, and 44 months, respectively. Ethical principles were followed. An analysis of the medical records, aiming to collect information of the anamnesis, conducted with the guardians, and of the assessment carried out with the children was performed. The assessment was performed by applying the following instruments: Communicative Behavior Observation (CBO), Development Screening Test Denver-II (TSDD-II), and the Early Language Milestone Scale (ELMS). The survey of characteristics confirmed the SRS hypothesis; it was verified a delay in communicative behavior for all participants in CBO; in TSDD-II there was a delay in gross motor, fine motor-adaptive, language, and social personal skills. Scores below expectations were found for receptive auditory and expressive auditory functions, with receptive abilities more developed than expressive abilities, in ELM. The SRS deserves to be recognized by the scientific community, since the phenotypic characteristics and the data from the previous life allow the hypothesis of the syndrome to be raised, aiming at an early correct diagnosis and therapeutic planning that minimizes the harmful effects of this condition.

Hernias poco comunes: hernia de Spiegel. Reporte de caso / Uncommon hernias: Spigelian hernia. Case report

La hernia de Spiegel es un defecto infrecuente de la pared abdominal producido por una alteración en la unión del borde lateral del músculo recto del abdomen y el borde medial del músculo transverso del abdomen en la línea semilunar. Representan apenas del 0,12 al 2% de todas las hernias. La presente investigación se enfocó en describir las manifestaciones clínicas, el diagnóstico, la incidencia, el procedimiento quirúrgico y su evolución en dos casos reportados. Caso 1: Femenina de 33 años, multípara, obesa, quien consulta por dolor y masa palpable en el cuadrante superior izquierdo del abdomen. Al examen físico, se evidenció dolor a la palpación en mesogastrio e hipocondrio izquierdo, exhibiendo protrusión del contenido abdominal, en la línea de Spiegel. Intervención quirúrgica: hernioplastia protésica de Spiegel con colocación de malla supraaponeurótica. Caso 2: Masculino de 89 años, con diagnóstico de EPOC, acudió a consulta presentando dolor abdominal en fosa iliaca y en la región inguino­escrotal izquierda. Al examen físico se evidenció saco herniario en la región inguino­escrotal por lo que se decide su resolución quirúrgica. Como hallazgo transoperatorio se evidenció defecto aponeurótico del recto anterior del abdomen izquierdo en su tercio inferior. Intervención quirúrgica: hernioplastia protésica de Spiegel con colocación de malla supraaponeurótica.Conclusión : La hernia de Spiegel es una entidad poco frecuente por lo que se debe concientizar al cirujano para sospechar este tipo de hernia en aquellos pacientes con presencia de aumento de volumen en la línea de Spiegel(AU)

Spigelian hernia is an infrequent abdominal wall defect caused by an alteration in the joint between lateral edge of the rectus abdominis muscle and the medial egde of the transverse abdominis muscle in the semilunar line. It represent only from 0.12 to 2% of all hernias. This investigation is focussed on describe the clinical manifestations, diagnosis, incidence, the surgical procedure and its evolution in two reported cases. Case 1: A 33 years old female, multiparous, obese, who consulted for pain and palpable mass in the left upper quadrant of the abdomen. Physical examination revealed tenderness between mesogastrium and left hypochondrium, showing protrusion of abdominal content, in the Spigelian line. Surgical intervention: Prosthetic Spiegel hernioplasty with supraaponeurotic mesh. Case 2: An 89 years old male, diagnosed with COPD, attended in the consultation presenting abdominal pain in the iliac fossa and in the left inguino-scrotal region. Physical examination revealed hernial sac in the inguino-scrotal region, reason which its surgical resolution is decided. As an intraoperative finding, an aponeurotic defect of the anterior rectus of the left abdomen was evidenced in its lower third. Surgical intervention: Prosthetic Spiegel hernioplasty with supraaponeurotic mesh.Conclusion : Spigelian hernia is a rare entity, so the surgeon must be focused on suspect this kind of hernia in patients with growth in Spiegel line(AU)

Melanoma acral lentiginoso (MAL): experiencia del Instituto Nacional de Cancerología de Colombia. 2003-2006 / Acral lentiginous melanoma (ALM): the experience of the National Cancer Institute of Colombia. 2003-2006

El Melanoma Acral Lentiginoso (MAL) es una variante de melanoma maligno, frecuente en nuestro medio, de predomino en las manos, pies y aparato ungular. En Colombia representa cerca del 15% de los casos de melanomas. Objetivo: el objetivo de este estudio es describir las características epidemiológicas, clínicas e histopatológicas de los pacientes con melanoma acral lentiginoso, atendidos en el Instituto Nacional de Cancerología de Colombia (INC), durante el período 2003-2006. Este es el primer reporte descriptivo de esta condición en nuestro país y de los pocos a nivel mundial. Métodos: estudio observacional retrospectivo tipo serie de casos, que resume las características clínicas y epidemiológicas de todos los pacientes con MAL diagnosticados en el INC, entre 2003 y 2006. Resultados: los pacientes con MAL constituyen en el INC el 25% de los casos de melanoma. Un total de 93 pacientes fueron atendidos en el INC durante el período de estudio, de los que 78 recibieron manejo quirúrgico. El porcentaje de casos avanzados (Estadios III y IV) 33% (n=31). Entre los antecedentes se registraron el de trauma previo, en el sitio de la lesión en 11 (11.8%). La mayoría (n=60-64.5%) de los pacientes, no tuvieron antecedentes de exposición solar como factor de riesgo. Tres pacientes (3.4%) registraron historia familiar de melanoma, de primer grado. El compromiso de miembros inferiores fue mayoritario (88.1%) n=82, siendo la región plantar y digital los sitios más frecuentes de presentación n=77 (94%). De los pacientes llevados a cirugía, en 59 (75%) pacientes se realizó ganglio centinela. Otras opciones terapéuticas empleadas fueron: el tratamiento adyuvante con interferón alfa realizado en 14 pacientes (18%), quimioterapia en 8 pacientes (10.2%), radioterapia en 18 pacientes (23%), cirugía más quimioterapia en 8 pacientes (10.2 %), cirugía más radioterapia en 18 pacientes (23%) y cirugía, quimioterapia más radioterapia en 3 pacientes (3.8%). Conclusión: el presente estudio describe las características epidemiológicas del MAL en Colombia y constituye el punto de partida, para el estudio local de esta variante del melanoma, frecuente en nuestra población.

Introduction: Acral Lentiginous Melanoma (ALM) is a variation of malignant melanoma which frequently occurs in Latin America; in developed countries it accounts for 2-8% of all melanoma types; in Colombia, 15% of all melanoma cases are classified as ALM. Histopathological characteristics of acral lentiginous melanoma patients treated at the National Cancer Institute of Colombia (NCI) during the years 2003-2006. This is the first descriptive report carried out on ALM in our country, and is among the few conducted in the world. Methods: an observational, retrospective study compiled the clinical and epidemiological characteristics of all acral lentiginous melanoma patients treated at the National Cancer Institute of Colombia during the years 2003-2006. Results: ALM patients accounted for 25% of all melanoma cases treated at the National Cancer Institute. A total of 93 patients were treated over the course of the study, 78 of whom underwent surgery. Advanced cases (Stages III and IV) made up 33% (n=31) of the total; among tumor antecedents, trauma at lesion site came to 11.8% (n=11). Non-solar exposure as a risk factor was reported in 64.5% (n=60) of patients; three patients (3.4%) had immediate family history of melanoma. Lower limb involvement prevailed, 88.1% (n=82) of which toes and soles of the feet were the most frequent sites, 94% (n=77). Three quarters (75%) of the 59 patients who underwent surgery received sentinel lymph node surgery. Other treatments included: adjuvant therapy with interpheron-alpha in 14 (18%) patients, chemotherapy in 8 patients (10.2%), radiotherapy in 18 patients (23%), surgery plus chemotherapy in 8 patients (10.2%), surgery plus radiotherapy in 18 patients (23%), and surgery plus chemotherapy plus radiotherapy in 3 patients (3.8%). Conclusion: this study describes the epidemiological characteristics of ALM in Colombia and provides a reference for the local study of this frequent melanoma variation in our population.

Experiencia en acromegalia en el Hospital de San José Reporte de serie de casos 1990-2007 / Experiences with acromegaly at San José Hospital Case series report 1990-2007

Introducción: la acromegalia es una enfermedad causada por la producción anormal de hormona del crecimiento en momentos en que los huesos ya han tenido su cierre epifisiario. En un 98% de los casos, la fuente de la hipersecreción de hormona del crecimiento es un adenoma somatotropo hipofisiario. Objetivo: el objetivo de este trabajo fue caracterizar una serie de casos de acromegalia, en el hospital de San José de Bogotá. Material y métodos: se revisaron de manera retrospectiva los registros de consulta diaria del servicio de endocrinología del Hospital de San José de Bogotá, durante 1990-2007 encontrándose 24 registros de pacientes con diagnóstico confirmado de acromegalia, a los cuales se les aplicó un instrumento de recolección de datos, que permitió describir las principales características demográficas, clínicas, paraclínicas y de tratamiento, mediante un análisis univariado y bivariado, realizado en el software estadístico Epi-Info. Resultados: se observó una mayor frecuencia en el sexo femenino y en el rango de edad de 20 a 45 años para ambos géneros. El tiempo promedio de evolución de los síntomas fue de 8,3 años previos al diagnóstico. Los signos y síntomas más frecuentes que motivaron la consulta fueron cambios en la apariencia física, prognatismo y cefalea. El diagnóstico imagenológico se realizó en un 96% con resonancia nuclear magnética contrastada, encontrándose en su mayoría macroadenomas. Al 92% de los pacientes se les realizó cirugía siendo el abordaje más usual el transesfenoidal. En cuanto al tratamiento farmacológico el más común fue con análogos de somatostatina (octreótide) y recibieron radioterapia complementaria al tratamiento médico 50% de los pacientes. Conclusiónes: la acromegalia continúa diagnosticándose cuando ya se han presentado importantes alteraciones sistémicas. La experiencia ha sido mayor con los casos de macroadenomas hipofisiarios, es decir, como aún lo sigue reportando la literatura mundial es una enfermedad insidiosa cuyo diagnóstico tardío empeora su pronóstico. Los hallazgos en esta serie en cuanto a manifestaciones clínicas y comorbilidades son coherentes con los observados por otros autores (Acta Med Colomb 2010; 35: 48-52).

Background: acromegaly is caused by the abnormal production of growth hormone (GH) after epiphysiary closure. In 98% of cases, the source of GH hypersecretion is a somatotrope hypofisiary adenoma. Objective: the objective of this project was to characterize a series of cases of acromegaly. Materials and methods: outpatient charts were reviewed retrospectively at the Hospital San Jose in Bogota. A total of 24 cases were detected from 1990 - 2007, with a confirmed diagnosis of acromegaly. A data collection tool was applied and demographic, clinical, paraclinical and treatment variables were collected. Uni- and bi-variate analyses were used and data was analysed in the Epi-Info tool. Results: a greater frequency favoring female gender was observed, and the age range was 20-45 years. Average symptom evolution was 8, 3 years. Most frequent signs and symptoms that generated consultation were changes in physical appearance, prognathism and cephalea. Diagnostic imaging was performed in 96% of cases using MRI with contrast, finding in most of them the macroadenoma variety of the tumor.Ninety-two percent of patients underwent surgery and the most common technique included transesphenoidal approach. Medical treatment used more commonly somatostatin analogues (octreótide) and 50% of patients received radiotherapy. Conclusion: acromegaly is still being diagnosed by the time when important systemic alterations have appeared. It is observed at young age. The experience has been larger with macroadenomas, similar to reports from world literature that show this disease as one with an insidious course and late diagnosis that complicate the patients’ prognosis. The findings in this case series related to clinical presentation and comorbidities are similar with the ones observed by other authors (Acta Med Colomb 2010; 35: 48-52).

Colesteatoma gigante: relato de caso e revisão da literatura / Giant cholesteatoma: case and literature review' report

Introdução: Colesteatomas são lesões císticas revestidas por epitélio escamoso estratificado, preenchido por queratina. São classificados em congênitos, cerca de 2-5% e adquiridos, os quais são subdivididos em primários, formados a partir de uma retração timpânica e secundária, originada da migração epitelial através de uma perfuração timpânica. São tumores com capacidade expansiva e de lise óssea, podendo invadir estruturas adjacentes. Apresentação de Caso: Este trabalho relata o caso de ONV, 23 anos, procedente de Macapá/Amapá. Em agosto de 2007 compareceu a atendimento com história de otorreia crônica à direita, relatava ainda meningite e paralisia facial periférica à direita pregressa. A tomografia de mastoide demonstrou imagem hipodensa com densidade de tecidos moles preenchendo o ouvido médio, destruindo cadeia ossicular, canais semicirculares, cóclea e se estendendo até junto à porção proximal do conduto auditivo interno. Encaminhada para cirurgia. Durante o trans-operatório evidenciou-se extensa destruição da camada cortical da mastoide, a qual estava ocupada por massa de coloração amarelada, fétida e de aspecto consistente. Depois de retirada da lesão verificou-se a presença de fístulas de alto débito com fossa posterior. Realizou-se o fechamento das fístulas com cera de osso e retalho de músculo temporal. A paciente ficou internada durante 15 dias em uso de esquema antimicrobiano amplo. Atualmente encontra-se em acompanhamento regular e em bom estado geral. Comentários Finais: Este trabalho tem como objetivo chamar a atenção para as graves complicações desta patologia, que apesar de comum e de se tratar de lesão tumoral benigna pode trazer sequelas graves ao paciente, caso o diagnóstico e tratamento não sejam realizados precocemente.

Introduction: Cholesteatomas are cystic lesions encased by stratified squamous epithelium, filled for keratin. They are classified in congenital, about of 2-5% and acquired, which are subdivided in primary formed from a tympanic retraction and secondary, originated from epithelium migration through a tympanic perforation. They are tumeurs with an expansive capacity and of bone lysis being able to invade adjacent structures. Case Report: This work reports the case of ONV, 23 years old from Macapá/Amapá. In august 2007, he/she appeared to attendance with a case history of right chronic otorrhea, he/she also reported meningitis and progressive right peripherica facial paralysis. The mastoid tomography demonstrated an hypodense image with density of soft tissues filling the middle ear, destructing the ossicular chain, semicircular canals, cochlea and extending until next to the proximal portion of the internal auditory meatus. He/she was referred to surgery. During the trans-operative it is evidenced an extensive destruction of the cortical layer of the mastoid, which was obstructed by a mass of an yellow coloration, fetid and of the consistent aspect. After the lesion is removed it is verified the presence of fistulae of high debit with posterior fossa. It was proceeded with the fistulae closing with a bone wax and temporal muscle shred. The patient remained confined during 15 days in use wide antimicrobial schema. Currently, it is find in regular accompaniment and in a good general state. Final Comments: This work aims to call attention to the rigorous complications of these pathologies , which despite to be common and to be a benign tumoral lesion can bring severe sequelae to the patient, in the event of the diagnosis and treatment not to be prematurely performed.

Flecked retina in systemic large-cell non-Hodgkin's lymphoma: case report

We report on a patient with a past medical history of successfully treated systemic large-cell non-Hodgkin's lymphoma (SNHL), who presented with multifocal yellowish retinal infiltrates (flecked retina) involving the post-equatorial retina of one eye. Fluorescein angiography revealed that the retinal infiltrates were hypofluorescent throughout the examination. The correct diagnosis of this ocular picture was important because the retinal lesions indicated central nervous system recurrence of systemic large-cell non-Hodgkin's lymphoma.

Relatamos um paciente com história patológica pregressa de linfoma não-Hodgkin sistêmico que oito meses após o tratamento apresentou quadro oftalmoscópico de múltiplos infiltrados retinianos amarelados (" flecked retina" ) envolvendo a retina pós-equatorial de um olho. A retinografia fluoresceínica revelou que os infiltrados retinianos eram hipofluorescentes durante todo o decorrer do exame. O diagnóstico correto desse quadro ocular foi importante, pois indicou recorrência do linfoma no sistema nervoso central.

Síndrome de Urbach-Wiethe: relato de caso / Urbach-Wiethe syndrome: a case report

Apresentação de um caso de síndrome de Urbach-Wiethe com manifestações típicas, inclusive oculares. Paciente do sexo feminino, 15 anos, com quadro de prurido ocular relacionado à presença de lesões papuliformes em margens palpebrais (blefarose moniliforme), em associação com outras alterações sistêmicas. O diagnóstico foi confirmado por meio de biópsia cutânea e foi instituído uso de lágrimas artificiais, com alívio parcial do sintoma. O objetivo do trabalho é relatar um caso com manifestações características da doença atendido no Setor de Oftalmologia da Faculdade de Medicina de Marília.

We present a case of Urbach-Wiethe syndrome with typical findings, including ocular lesions. A 15-year-old girl was referred to our department complaining of itchy eyelid lesions (moniliform blepharosis) associated with other systemic manifestations. Diagnosis was confirmed by performing skin biopsy. Artificial tears were prescribed, with partial relief of the symptom. The objective of the present study is to describe a typical case of Urbach-Wiethe syndrome attended at the Ophthalmologic Sector of the Medical School of Marília.

Literature Analysis of 2 Cases of Cross Allergic Reaction between Carbopenem and Penicillin / 中国药房

OBJECTIVE:To analyze the characteristics and regularity of cross allergic reaction between carbopenems and penicillin.METHODS:2 cases about cross allergic reaction between ertapenem and penicillin were reported,716 cases of cross allergic reaction between carbopenems and penicillin in 9 literatures were collected from databases from Jan.1986 to Jan.2010 and analyzed statistically.RESULTS:The incidence of allergic reactions caused by carbopenems in patients with allergic history were higher than that in patients without allergic history.Allergic reaction mostly occurred within 15 min～49 d.Sound therapeutic efficacy can be achieved because of immediate withdrawal of drug and anti-allergy treatment,patients were with good prognosis.CONCLUSION:Great importance should be attached to monitoring of cross allergic reaction between carbopenems and penicillin and rational use of drugs.