Congenital midline cervical cleft: Management of a case series and literature review.

Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review. Correct diagnosis and early treatment with complete removal of the fibrous midline band is paramount to avoid patient complaints until adolescence or adulthood.

Flow Cytometry Immunophenotyping for Diagnostic Orientation and Classification of Pediatric Cancer Based on the EuroFlow Solid Tumor Orientation Tube (STOT).

Early diagnosis of pediatric cancer is key for adequate patient management and improved outcome. Although multiparameter flow cytometry (MFC) has proven of great utility in the diagnosis and classification of hematologic malignancies, its application to non-hematopoietic pediatric tumors remains limited. Here we designed and prospectively validated a new single eight-color antibody combination-solid tumor orientation tube, STOT-for diagnostic screening of pediatric cancer by MFC. A total of 476 samples (139 tumor mass, 138 bone marrow, 86 lymph node, 58 peripheral blood, and 55 other body fluid samples) from 296 patients with diagnostic suspicion of pediatric cancer were analyzed by MFC vs. conventional diagnostic procedures. STOT was designed after several design-test-evaluate-redesign cycles based on a large panel of monoclonal antibody combinations tested on 301 samples. In its final version, STOT consists of a single 8-color/12-marker antibody combination (CD99-CD8/numyogenin/CD4-EpCAM/CD56/GD2/smCD3-CD19/cyCD3-CD271/CD45). Prospective validation of STOT in 149 samples showed concordant results with the patient WHO/ICCC-3 diagnosis in 138/149 cases (92.6%). These included: 63/63 (100%) reactive/disease-free samples, 43/44 (98%) malignant and 4/4 (100%) benign non-hematopoietic tumors together with 28/38 (74%) leukemia/lymphoma cases; the only exception was Hodgkin lymphoma that required additional markers to be stained. In addition, STOT allowed accurate discrimination among the four most common subtypes of malignant CD45- CD56++ non-hematopoietic solid tumors: 13/13 (GD2++ numyogenin- CD271-/+ nuMyoD1- CD99- EpCAM-) neuroblastoma samples, 5/5 (GD2- numyogenin++ CD271++ nuMyoD1++ CD99-/+ EpCAM-) rhabdomyosarcomas, 2/2 (GD2-/+ numyogenin- CD271+ nuMyoD1- CD99+ EpCAM-) Ewing sarcoma family of tumors, and 7/7 (GD2- numyogenin- CD271+ nuMyoD1- CD99- EpCAM+) Wilms tumors. In summary, here we designed and validated a new standardized antibody combination and MFC assay for diagnostic screening of pediatric solid tumors that might contribute to fast and accurate diagnostic orientation and classification of pediatric cancer in routine clinical practice.

Torsion of Granulosa Cell Tumor of the Ovary in a Preschool Patient: A Rare Cause of Acute Abdomen.

BACKGROUND Granulosa cell tumor of the ovary is very rare in childhood; its most common clinical manifestation is isosexual precocious puberty. Clinical presentation as acute abdomen due to pain and ovarian torsion is rare, but a granulosa cell tumor must be suspected in a patient with this acute presentation and signs of early puberty. Adult-type granulosa cell tumor is an even rarer occurrence in children. CASE REPORT We report a case of torsion of adult-type granulosa cell tumor of the ovary in a 5-year-old patient with acute abdominal pain and ovarian torsion and highlight the importance of histological diagnosis of this tumor for the therapeutic plan and progression of these patients. CONCLUSIONS Precocious puberty, pain, abdominal distension, and an ultrasonography with suspicion of ovarian torsion are warning signs that may indicate the presence of a gonadal stromal tumor in pediatric patients seen at an emergency unit. These patients require long-term follow-up by a pediatrician and gynecologist because of the potential for late recurrence.

Torsion of a Communicating Hydrocele Presented as Acute Scrotum: A Case Report and Literature Review.

Torsion of a communicating hydrocele is extremely rare, and the cause is unclear. We report the case of a 3-year-old boy referred to us with acute scrotum. Operative findings revealed torsion of a communicating hydrocele with a 360-degree rotation of the distal end. We performed surgical excision of the necrotic cystic mass and high ligation of the peritoneal communication. A high index of suspicion is required for the correct diagnosis and treatment of this condition, which should be included among the causes of acute scrotum in childhood.

Choledochal cyst in childhood: review of 30 cases.

OBJECTIVE: To analyze and discuss the clinical data, diagnosis and treatment of a number of patients with cystic dilatation of the common bile duct of a Brazilian pediatric hospital. METHODS: We analyzed 30 patients treated at the Martagão Gesteira Institute of Pediatrics and Child Care of the Federal University of Rio de Janeiro for 23 years ,with statistical analysis of epidemiological data, clinical manifestations, diagnosis, treatment and postoperative outcome. RESULTS: We observed a marked female predominance (73.4% of cases), the diagnosis being made in the first decade of life in 90% of patients. The most prevalent clinical manifestation was jaundice (70% of cases) and the classic triad of choledochal cyst was not observed. Abdominal ultrasound was the first imaging examination performed, with a sensitivity of 56.6%, with diagnostic definition in 17 children. Two patients (6.6%) had prenatal diagnosis. All patients underwent surgical treatment, cyst resection with Roux-en-Y hepaticojejunostomy being performed in 80% of cases. The incidence of postoperative complications was 13.3% and the mortality rate was 6.6%, ie two patients were diagnosed with Caroli's disease. CONCLUSION: The non-observance of the classic triad of choledochal cyst suggests that its incidence is lower than that reported in the medical literature. The surgical treatment of choledochal cysts, with resection and bilioenteric anastomosis, is safe even for small children.

Choledochal cyst in childhood: review of 30 cases / Cisto de colédoco na infância: revisão de 30 casos

Objective: To analyze and discuss the clinical data, diagnosis and treatment of a number of patients with cystic dilatation of the common bile duct of a Brazilian pediatric hospital. Methods: We analyzed 30 patients treated at the Martagão Gesteira Institute of Pediatrics and Child Care of the Federal University of Rio de Janeiro for 23 years ,with statistical analysis of epidemiological data, clinical manifestations, diagnosis, treatment and postoperative outcome. Results: We observed a marked female predominance (73.4% of cases), the diagnosis being made in the first decade of life in 90% of patients. The most prevalent clinical manifestation was jaundice (70% of cases) and the classic triad of choledochal cyst was not observed. Abdominal ultrasound was the first imaging examination performed, with a sensitivity of 56.6%, with diagnostic definition in 17 children. Two patients (6.6%) had prenatal diagnosis. All patients underwent surgical treatment, cyst resection with Roux-en-Y hepaticojejunostomy being performed in 80% of cases. The incidence of postoperative complications was 13.3% and the mortality rate was 6.6%, ie two patients were diagnosed with Caroli's disease. Conclusion: The non-observance of the classic triad of choledochal cyst suggests that its incidence is lower than that reported in the medical literature. The surgical treatment of choledochal cysts, with resection and bilioenteric anastomosis, is safe even for small children. .

Objetivo: analisar e discutir os dados clínicos, o diagnóstico e tratamento de uma série de pacientes portadores de dilatações císticas do colédoco de um hospital pediátrico brasileiro. Métodos: foram analisados 30 pacientes tratados no Instituto de Pediatria e Puericultura Martagão Gesteira da Universidade Federal do Rio de Janeiro durante 23 anos, com análise estatística de dados epidemiológicos, manifestações clínicas, diagnóstico, tratamento e evolução pós-operatória. Resultados: foi observada marcada predominância do sexo feminino (73,4% dos casos), sendo o diagnóstico feito na primeira década de vida em 90% dos pacientes. A manifestação clínica mais prevalente foi a icterícia (70% dos casos) e a tríade clássica do cisto de colédoco não foi observada. A ultrassonografia abdominal foi o primeiro exame de imagem realizado, demonstrando sensibilidade de 56,6%, com definição diagnóstica em 17 crianças. Dois pacientes (6,6%) tiveram diagnóstico pré-natal. Todos os pacientes foram submetidos a tratamento cirúrgico, sendo a ressecção do cisto com hepaticojejunostomia com Y de Roux realizada em 80% dos casos. A incidência de complicações pós-operatórias foi 13,3% e a taxa de mortalidade foi 6,6%, ou seja, dois pacientes com diagnóstico de doença de Caroli. Conclusão: a não observação da tríade clássica do cisto de colédoco nos pacientes avaliados sugere que a sua incidência seja menor que a relatada na literatura médica mundial. O tratamento cirúrgico dos cistos de colédoco, com sua ressecção e anastomose bíleodigestiva é seguro, mesmo em crianças pequenas. .

Contribution of multiparameter flow cytometry immunophenotyping to the diagnostic screening and classification of pediatric cancer.

Pediatric cancer is a relatively rare and heterogeneous group of hematological and non-hematological malignancies which require multiple procedures for its diagnostic screening and classification. Until now, flow cytometry (FC) has not been systematically applied to the diagnostic work-up of such malignancies, particularly for solid tumors. Here we evaluated a FC panel of markers for the diagnostic screening of pediatric cancer and further classification of pediatric solid tumors. The proposed strategy aims at the differential diagnosis between tumoral vs. reactive samples, and hematological vs. non-hematological malignancies, and the subclassification of solid tumors. In total, 52 samples from 40 patients suspicious of containing tumor cells were analyzed by FC in parallel to conventional diagnostic procedures. The overall concordance rate between both approaches was of 96% (50/52 diagnostic samples), with 100% agreement for all reactive/inflammatory and non-infiltrated samples as well as for those corresponding to solid tumors (n = 35), with only two false negative cases diagnosed with Hodgkin lymphoma and anaplastic lymphoma, respectively. Moreover, clear discrimination between samples infiltrated by hematopoietic vs. non-hematopoietic tumor cells was systematically achieved. Distinct subtypes of solid tumors showed different protein expression profiles, allowing for the differential diagnosis of neuroblastoma (CD56(hi)/GD2(+)/CD81(hi)), primitive neuroectodermal tumors (CD271(hi)/CD99(+)), Wilms tumors (>1 cell population), rhabdomyosarcoma (nuMYOD1(+)/numyogenin(+)), carcinomas (CD45(-)/EpCAM(+)), germ cell tumors (CD56(+)/CD45(-)/NG2(+)/CD10(+)) and eventually also hemangiopericytomas (CD45(-)/CD34(+)). In summary, our results show that multiparameter FC provides fast and useful complementary data to routine histopathology for the diagnostic screening and classification of pediatric cancer.

Estudo comparativo entre as técnicas de nissen e Boix-Ochoa em ratos / Comparative study between the techniques of the nissen and Boix-Ochoa in rats

OBJETIVO: Comparar, em ratos, a eficiência das técnicas de Nissen e Boix-Ochoa no tratamento do refluxo gastroesofagiano (RGE) induzido pela operação de Heller. MÉTODO: Foram usados 30 ratos Wistar, com idades entre 40 e 60 dias de vida e peso corporal entre 210 g e 342 g. Os animais foram distribuídos em três Grupos (A, B, C) de 10 ratos. Em todos os animais realizou-se a operação de Heller. No Grupo B ela foi seguida de uma operação de Nissen e, no Grupo C, de uma operação de Boix-Ochoa. A pressão intra-gástrica necessária para produzir RGE foi medida em todos os animais: antes de qualquer procedimento; imediatamente após as operações de Heller, Nissen e Boix-Ochoa; e seis semanas depois, quando os animais foram mortos. RESULTADOS: Verificou-se que tanto a recuperação da perda de peso, que caracteriza o quadro de RGE, como a reconstituição mais fisiológica dos gradientes pressóricos gastroesofagianos são obtidos de forma mais eficiente pela técnica de Boix- Ochoa. CONCLUSÃO: As operações de Nissen e Boix- Ochoa são eficientes no tratamento do RGE induzido pela técnica de Heller, em ratos. A segunda, no entanto, restaurou, de forma mais adequada, os valores fisiológicos dos parâmetros estudados neste trabalho: o peso corporal e os gradientes pressóricos gastroesofagianos.

OBJECTIVE: To compare, in rats, the efficiency of Nissen and Boix-Ochoa techniques in the treatment of gastroesophageal reflux (GER) induced by a Heller's procedure. METHOD: 30 rats Wistar aged between 40 and 60 days and weighing between 210 g and 342 g were used. The animals were divided in three (A,B,C) groups of 10 rats each. A Heller's operation was made in all the animals. In group B, it was followed by a Nissen procedure and, in group C, by a Boix-Ochoa procedure. The intragastric pressure necessary to produce reflux was mesured in all animals: before any procedure; immediately after the Heller, Nissen and Boix-Ochoa porcedures; and 6 weeks later, when the animals were killed. RESULTS: Restauration of body weight and reconstitution of more physiologic gastroesophageal pressure gradients were more effective with the Boix-Ochoa technique. CONCLUSION: the techniques of Nissen and Boix-Ochoa are effective in the treatment of GER induced by a Heller's procedure in rats. The second one, howerver, restaures, more adequately, the physiologic values of the two parameters used in this study: body weight and gastroesophageal pressure gradients.