RESUMO
AIM OF THE STUDY: The slipping rib syndrome (SRS) is an unknown pathology for the pediatric surgeon due to its low incidence in children. The weakness of the costal ligaments allowing an area of rib hypermobility has been postulated recently as the main etiology. It produces an intermittent pain in the lower thorax or upper abdomen that can affect to the daily activities and can be the origin of unspecific chronic pain. METHODS: A retrospective review of patients diagnosed with SRS between october 2012 and march 2017 was performed. Data of demographics, symptoms, imaging studies, surgical findings and long-term follow-up were collected. RESULTS: During this period, 4 patients were diagnosed with SRS. Median age at diagnosis was 13 years (12-15 years) with a mean duration of symptoms of 13 months (12-36 months). In 2 patients the SRS was associated with Costal Dysmorphia (CD). The initial diagnosis was clinical with posterior ultrasound confirmation. Resection of the affected cartilages was performed in 3 patients and after a follow-up of 6 months (3-30 months), they all are painless and refer a good cosmetic result. One patient refused the intervention. CONCLUSIONS: The SRS is an infrequent cause of thoracic pain with an etiology not well understood. The awareness of this disease and its typical presentation can avoid unnecessary studies. The resection of the affected cartilages is a safe and effective treatment.
INTRODUCCION: El síndrome de costilla deslizante (SCD) es una entidad poco frecuente en niños. Se cree que su causa es una debilidad en los ligamentos costales que permite una hipermovilidad de las costillas. Genera un dolor intermitente en la región baja del tórax o alta del abdomen que puede afectar a las actividades de la vida diaria o generar un dolor crónico. MATERIAL Y METODOS: Revisión retrospectiva de SCD entre octubre de 2012 y diciembre de 2017. Se recogió información acerca de los datos demográficos, síntomas, estudios de imagen, hallazgos intraoperatorios, material fotográfico y seguimiento a largo plazo. RESULTADOS: Durante este periodo, 4 pacientes fueron diagnosticados de SCD. La mediana de edad al diagnóstico fue de 13 años (12-15 años) con una duración previa de los síntomas de 13 meses (12-36 meses). En 2 pacientes se asoció una dismorfia costal (DC). El diagnóstico fue clínico con confirmación ecográfica. Se realizó resección de los cartílagos afectos en 3 pacientes con un seguimiento posterior de 6 meses (3-30 meses). Actualmente se encuentran sin dolor y con un resultado estético satisfactorio. Un paciente rechazó la intervención. CONCLUSIONES: El SCD aparece en pacientes preadolescentes que en algunos casos asocian DC. Una exploración física y ecografía enfocada son las claves para un diagnóstico certero. La resección de cartílagos es efectiva a largo plazo.
Assuntos
Cartilagem/cirurgia , Dor no Peito/etiologia , Costelas/cirurgia , Adolescente , Cartilagem/diagnóstico por imagem , Criança , Feminino , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Costelas/diagnóstico por imagem , Costelas/fisiopatologia , Síndrome , Resultado do Tratamento , Ultrassonografia/métodosRESUMO
BACKGROUND: Acute appendicitis is the most frequent surgical urgency in children. Frequently, it can be complicated with an intraabdominal abscess that will require a longer and expensive treatment. Our aim is to know if it is possible to predict this complication before its beginning. MATERIAL AND METHODS: Retrospective case-control study with patients treated between 2011 and 2016, paired according to their own characteristics (age, sex and weight), clinical aspects (symptoms, time of their onset, physical examination) and type of appendicitis (gangrenous). The main variable was the appearance of an intraabdominal abscess in the postoperative period (cases). Univariate and multivariate analysis were performed, with a statistical significance level of p < 0.05. RESULTS: We included 54 cases and 108 controls. The occurrence of intraabdominal abscess was significantly associated with preoperative hyponatremia (p < 0.001), elevated CRP (p < 0.05), appendix perforation (p < 0.001) and wound infection (p < 0.001). The multivariate analysis dismissed the value of the CRP as an abscess predictor but showed association in the other three variables cited before. There was no association with the presence of generalized peritonitis at the intervention or the type of surgical approach. CONCLUSIONS: Appendix perforation, infection of the surgical wound and hyponatremia at diagnosis are predictive factors for the appearance of a postoperative intraabdominal abscess after acute gangrene appendicitis. We believe that early identification would favor the secondary prevention of this complication and the decrease of its morbidity.
OBJETIVOS: La apendicitis aguda es la urgencia quirúrgica más frecuente en niños. En numerosas ocasiones el postoperatorio puede complicarse con un absceso intraabdominal que requerirá un tratamiento más largo y costoso. Nuestro objetivo es conocer si es posible predecir dicha complicación antes de producirse. MATERIAL Y METODOS: Estudio retrospectivo de casos y controles tratados entre 2011 y 2016 y pareados según características del paciente (edad, sexo y peso), cuadro clínico (síntomas, tiempo de evolución, exploración física) y tipo de apendicitis (gangrenada). La variable de agrupación fue la aparición de un absceso intraabdominal en el postoperatorio (casos). Se realizó análisis uni y multivariante, con un nivel de significación estadística p < 0,05. RESULTADOS: Se incluyeron 54 casos y 108 controles. La aparición de absceso intraabdominal se asoció significativamente con la hiponatremia preoperatoria (p < 0,001), la PCR elevada (p < 0,05), la perforación del apéndice (p < 0,001) y la infección de la herida quirúrgica (p < 0,001). El análisis multivariante descartó el valor de la PCR como predictor de absceso pero demostró asociación en las otras tres variables citadas. No se encontró asociación con la presencia de peritonitis generalizada en la intervención o el tipo de abordaje quirúrgico. CONCLUSION: La perforación del apéndice, la infección de la herida quirúrgica y la hiponatremia al diagnóstico son factores predictores de la aparición de un absceso intraabdominal postoperatorio después de una apendicitis aguda gangrenada. Creemos que la identificación precoz favorecería la prevención secundaria de esta complicación y la disminución de su morbilidad.
Assuntos
Abscesso Abdominal/etiologia , Apendicectomia/métodos , Apendicite/cirurgia , Gangrena/etiologia , Doença Aguda , Estudos de Casos e Controles , Feminino , Humanos , Hiponatremia/complicações , Masculino , Análise Multivariada , Complicações Pós-Operatórias/epidemiologia , Período Pré-Operatório , Estudos Retrospectivos , Infecção da Ferida Cirúrgica/complicaçõesRESUMO
INTRODUCTION: Gallstone removal preserving the gallbladder is a therapeutic option in cholelithiasis. Our group has made use of this technique for twenty-five years in pediatric patients. The purpose of this review was to study gallstone recurrence and gallbladder motility. MATERIALS AND METHODS: Patients who had gallstones removed with this technique from 1989 until 2013 were contacted and asked about digestive or other health problems. A sonographic assessment was made in order to look for gallstone recurrence and to measure gallbladder volumes and contraction after fasting and after consuming a fatty meal. RESULTS: All patients are asymptomatic except a girl who suffered colic pain and who had a gallstone recurrence. The median of volume after fasting was 18.37 cc and after consuming the meal 7.16 cc. The median of gallbladder contraction was 57.63%. CONCLUSIONS: A gallstone relapse was identified (10%). Long-term follow up showed an excellent gallbladder function and contraction (greater than 30%) without other recurrences. Based on our experience, in patients properly selected cholecistolithotomy is an interesting option in children.
Assuntos
Colecistectomia/métodos , Colelitíase/cirurgia , Vesícula Biliar/cirurgia , Cálculos Biliares/cirurgia , Adolescente , Adulto , Criança , Colelitíase/patologia , Feminino , Seguimentos , Vesícula Biliar/metabolismo , Vesícula Biliar/patologia , Cálculos Biliares/patologia , Humanos , Masculino , Recidiva , Estudos Retrospectivos , Adulto JovemRESUMO
INTRODUCTION: The most frequent long term side effects of Hirschsprung's disease (HD) surgery are obstructive problems and fecal incontinence. In this study, we analyse long term functional results of the two most used surgical techniques (Duhamel-D- and De la Torre-dlT-) from the patient's point of view, through quality of life and functionality questionnaires. METHODS: We selected short segment HD patients ≥ 4 years) that were operated in our unit from 1996 until 2011. We employed two validated questionnaires: Bowel Function Score (BFS) and Gastrointestinal Quality of Life Index (GIQLI). Both questionnaires were also tested in two control age matched groups, each for every arm (controlD or control dlT). RESULTS: Among 28 preselected patients, 22 (78.6%) answered both questionnaires. Group D (10 patients) showed more constipation: 60% vs. 16.7% ( p = 0.01). Patients in group dlT (12 patients) showed more leaks: 58.3 vs. 10% (p = 0.03). Results of both questionnaires were higher (better) in Group D: 16 vs. 12.8 points (BFS, p = 0.007) and 74.1 vs. 69.8 (GIQLI, p = 0.17). The control group showed an overall better scores than HD patients: 17.2 vs. 14.3 (BFS p = 0.001) and 75.9 vs. 71.8 (GIQLI, p = 0.04). Separately, both groups of patients showed worse scores when compared with each control group. DISCUSSION: Our results are similar to other studies, where global scores of functional results and quality of life are worse in operated HD patients than in age matched controls. Fecal incontinence has more impact on social scores than constipation. Due to the fact that our dlT patients have more frequently fecal leaks, their scores are worse than in the D group. Nevertheless, patients in dlT group are younger and may improve their results as they get older, as it is often the case in operated HD patients.
Assuntos
Doença de Hirschsprung/cirurgia , Qualidade de Vida , Adolescente , Criança , Feminino , Humanos , Masculino , Inquéritos e Questionários , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVES: The aim of this review is to present our experience in minimally invasive surgical procedures as treatment of hepatic and pulmonary hydatidosis in the last five years. MATERIAL AND METHODS: Retrospective review of patients with pulmonary and hepatic hydatid cysts treated in our hospital between 2008-2012 with minimally invasive surgery. RESULTS: We identified 4 cases, all of them Moroccan origin, the mean age was 6.7 years. Only one patient with hepatic cyst and three with hepatopulmonary cysts. All of them were treated with albendazole before surgery. Laparoscopy and/or thoracoscopy was performed and, in one case a transdiaphragmatic approach was used, as a way to reach a posterior hepatic injury unapproachable by laparoscopy. The technique used was the sterilization of the contents of the cyst with hypertonic saline solution, cyst opening and cystic membrane removal. We didn't do capitonage or pericystectomy. The resolution rate of residual cavities of the cysts was 100% and there was no recurrence or intraoperative complications. CONCLUSIONS: In children surgical treatment can be performed using endoscopic techniques with the same safety and efficacy as open surgery. Treatment with albendazole before surgery is helpful in preventing recurrences and as unique treatment in small lesions. Surgery must be as sparing as possible avoiding unnecessary liver or lung resections. Treatment of the residual cavity seems unnecessary. The thoracoscopic transdiaphragmatic approach should be considered as an alternative treatment, for those liver lesions in posterior segments, which are intractable with laparoscopy.
Assuntos
Equinococose Hepática/cirurgia , Equinococose Pulmonar/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Albendazol/uso terapêutico , Anti-Helmínticos/uso terapêutico , Criança , Pré-Escolar , Equinococose Hepática/tratamento farmacológico , Equinococose Pulmonar/tratamento farmacológico , Feminino , Humanos , Laparoscopia/métodos , Masculino , Marrocos/etnologia , Estudos Retrospectivos , Prevenção Secundária , Toracoscopia/métodos , Resultado do TratamentoRESUMO
INTRODUCTION: In gastroschisis, premature birth may avoid the development of intestinal peel and favour the primary closure. We present the preliminary results obtained after following a multidisciplinary approach to gastroschisis. After prenatal ultrasound diagnosis, preterm caesarean delivery at 34-35 weeks of gestation is programmed. METHODS: Prospective design of a study, where we included all prenatal diagnosed gastrosquisis neonates, from July 2007 to January 2012. RESULTS: We followed 9 infants (3 male). Average weight at birth: 1,927 gr. (+/- 370). Primary closure was successfully accomplished in the first 3 hours of life all cases. We found two cases of slight peel. We found no associated intestinal malformations, except for one small bowel stenosis. No significant neonatal distress respiratory syndrome developed. Mean parenteral nutrition time was 13.9 days (+/- 3.8). 4 neonates developed central line associated infection. No surgical site infection developed. Enteral nutrition was started at day 8th (+/- 2.8). Enteral requirements were fulfilled at day 15th (+/- 3.6). Mean hospital stay was 31 days (+/- 10). Mean follow-up was 30 months. 4 cases developed a small (< 5 mm) umbilical hernia CONCLUSION: Programming premature cesarean section delivery at 34 weeks of gestation was beneficial to the neonates with gastroschisis, yet it avoided peel development, and rendered primary closure without serious difficulties possible. This diminishes hypoperistalsis time and allows rapid instauration of enteral feeding, so hospital stays may be shorter.
Assuntos
Gastrosquise/cirurgia , Feminino , Humanos , Recém-Nascido , Masculino , Equipe de Assistência ao Paciente , Estudos ProspectivosRESUMO
INTRODUCTION: Long term results of different surgical techniques in Hirschsprung's Disease (HD) are contradictory. There are still no long term large or multicentric reports about functional results of De la Torre technique. We have studied the mid term functional results of the patients operated on Duhamel (D) and De la Torre (dlT) pull-through procedures. PATIENTS AND METHODS: We collected data from medical records and telephone interviews of the HD patients operated in our unit in the last 16 years. RESULTS: 38 patients were found. Ages ranged from 1.5 to 21 years. Mean age was 7.7 years. Median follow up was 5.9 years. 33 (86.8%) had rectosigmoid disease and 5 (13.2%) had long segment disease. D procedure was performed in 17 (44.7%), Soave in 1 (2.6%), Duhamel-Lester-Martin in 4 (10.5%) and dlT pull-through in 16(42%). In the last visit record, 12 (31.6%), had constipation, and fecal leaks were noted in 11 (33.3%) of the 33 patients > or = 4 years old.. 10 patients (29.4% of the > or = 4 years old group) referred encopresis along the follow-up. Patients from the D group referred higher rates of constipation than those in the dlT group (53.3% vs 20% p=0.048). dlT patients referred more frequency of leaks (46,1% vs 13,3%, p=0,05) Children with very short resections (< or = 10 cm) were more prone to constipation than children with longer resections (66,6% vs 17.4% p=0.007), and less prone to present leaks (12.5% vs 47.3% p=0.08). Encopresis was similar in all groups. DISCUSSION: Both techniques show similar functional results in the mid term, although children in the D group were more prone to constipation and those in the dlT group presented more fecal leaks. All patients with EH need long follow-ups.
Assuntos
Constipação Intestinal/epidemiologia , Encoprese/epidemiologia , Doença de Hirschsprung/cirurgia , Adolescente , Criança , Pré-Escolar , Constipação Intestinal/etiologia , Coleta de Dados , Encoprese/etiologia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
We describe the unusual case of a female patient with a history of two mature teratomas non-correlated in terms of location and occurrence. A 12-year-old girl presented at our consultation as a result of a growing tumor in the hypogastric region, with no further clinical signs. She had undergone surgery neonatally due to a mature cystic sacrococcygeal teratoma, which was fully removed. No clinical sequelae were noted and no additional treatment was required over a 10-year follow-up. Radiological examination showed a large 20 × 12 × 18 cm cystic mass extending from the pelvic region to the lower hemiabdomen, associated with two similar small formations adjacent to the right ovary. Tumor markers were negative, and a laparoscopic right salpingoophorectomy was carried out, with an excellent postoperative progression. Pathological examination revealed it was, again, a mature cystic teratoma. The genetic study ruled out causation in this respect.
Describimos el inusual caso de una paciente con antecedente de dos teratomas maduros no relacionados en cuanto a su localización y debut. Una niña de 12 años consultó por la aparición de una tumoración en la región hipogástrica de crecimiento progresivo sin otra clínica asociada. Había sido intervenida por un teratoma quístico maduro sacrococcígeo en el periodo neonatal con su extirpación completa y, ausencia secuelas clínicas y tratamiento adicional durante diez años de seguimiento posterior. Los exámenes radiológicos mostraron una gran masa quística de 20 × 12 × 18 cm que se extendía entre la región pélvica y el hemiabdomen inferior, acompañada por otras dos pequeñas formaciones similares adyacentes al ovario derecho. Los marcadores tumorales resultaron negativos y se llevó a cabo una salpingooforectomía derecha laparoscópica con una excelente evolución postoperatoria. El examen histopatológico, de nuevo, informó la lesión como teratoma quístico maduro. El estudio genético descartó una posible causalidad en este ámbito.
Assuntos
Cisto Dermoide , Teratoma , Humanos , Criança , Feminino , Teratoma/cirurgia , Teratoma/patologia , Radiografia , Região Sacrococcígea/patologia , Progressão da DoençaRESUMO
OBJECTIVE: To describe a basic training program in microsurgery and to analyze the learning curve through the process, including improvement in operating times and functional outcome. MATERIALS AND METHODS: Our learning program included basic, transitional, and experimental models. The experimental model included tail vein cannulation, intestinal resection and anastomosis, dissection, division and anastomosis of the cava and aorta. Wistar rats (66.7% male; 406.9 ± 38.9 grams) were used. The program adhered to the 3R principle and obtained animal welfare committee approval. RESULTS: Mean tail vein cannulation time was 2.4 ± 1.2 minutes. Mean intestinal resection and jejunocolic anastomosis time was 14.8 ± 2.7 minutes and 10.4 ± 3 minutes, respectively. All anastomoses were functionally valid. Mean vessel dissection time was 22.9 ± 7.7 minutes, aortic artery anastomosis was 17.2 ± 7.1 minutes, and vena cava anastomosis was 25.9 ± 7.3 minutes. 66.7% of vena cava anastomoses were functionally valid vs. 88.9% for the aorta. The time required for all procedures decreased after the third attempt, except for vena cava anastomoses, which remained similar in all 9 procedures. CONCLUSIONS: Our model demonstrated that the procedures were suitable for trainer progression in terms of surgical time and functional outcome. Microsurgical training would benefit from standardized programs to optimize results.
OBJETIVO: Describimos un programa de formación básica en microcirugía y analizamos la curva de aprendizaje a través del proceso, incluyendo la mejora en los tiempos operatorios y en el resultado funcional del procedimiento. MATERIAL Y METODOS: Nuestro programa de aprendizaje incluye modelos básicos, de transición y experimentales. Dentro del modelo experimental se incluyeron: canulación de la vena de la cola, resección y anastomosis intestinal, disección, sección y anastomosis de la cava y la aorta. Se emplearon ratas Wistar (66,7% machos; 406,9 ± 38,9 gramos), el programa se adhirió al principio de las 3R y obtuvo la aprobación del comité de bienestar animal. RESULTADOS: El tiempo medio de canulación de la vena de la cola fue de 2.4 ± 1,2 minutos. El tiempo medio de resección intestinal y anastomosis yeyunocólica de 14.8 ± 2,7 minutos y 10.4 ± 3 minutos, respectivamente. Todas las anastomosis fueron funcionalmente válidas. El tiempo medio de la disección de vasos fue de 22,9 ± 7,7 minutos, la anastomosis de la arteria aorta de 17,2 ± 7,1 minutos, mientras que la anastomosis de la vena cava fue de 25,9 ± 7,3 minutos. El 66,7% de las anastomosis de la vena cava fueron funcionalmente válidas en comparación con el 88,9% de la aorta. El tiempo requerido para todos los procedimientos disminuyó después del tercer intento, excepto para las anastomosis de vena cava, que se mantuvo similar en los 9 procedimientos. CONCLUSIONES: Nuestro modelo demostró que los procedimientos eran adecuados para la progresión del entrenador en términos de tiempo quirúrgico y resultado funcional. La formación microquirúrgica se beneficiaría de programas estandarizados para optimizar los resultados.
Assuntos
Microcirurgia , Cirurgiões , Ratos , Animais , Masculino , Humanos , Feminino , Microcirurgia/métodos , Ratos Wistar , Procedimentos Cirúrgicos Vasculares/educação , Anastomose Cirúrgica/métodosRESUMO
Monthly test-day records of milk yield and composition in Murciano-Granadina (MG) and Payoya (PYA) dairy goats were combined with weather data from meteorological stations, to analyse the effects of heat stress on dairy traits, measured with an index of temperature and relative humidity (THI). A 'repeatability animal model' and a 'reaction norm animal model' were used to estimate genetic (co)variance components. Estimates obtained with both models were very similar. The h(2) of daily yields in MG did not vary throughout the THI scale, but the pattern of variation of content traits showed negative trends for increasing THI values. In PYA, a slight positive tendency throughout the THI scale was observed for the same traits. The genetic correlations between subsequent points in the THI scale were lower than 0.80 when they were computed between low and high THI points. The same reaction norm was observed for all traits. Using the 'reaction norm animal model', it was possible to identify those animals that show the same performance throughout the THI trajectory (robust) and those with varying performances (tolerant and non-tolerant to heat stress). Results in this study also show that heat tolerance decreases, while the genetic level for milk traits increases. Losses because of heat stress were equivalent to 1.9 and 3.1% in the yearly yield of fat and protein for MG and PYA, respectively.
Assuntos
Adaptação Fisiológica/genética , Indústria de Laticínios , Variação Genética , Cabras/genética , Cabras/fisiologia , Resposta ao Choque Térmico/genética , Resposta ao Choque Térmico/fisiologia , Análise de Variância , Animais , Cruzamento , Meio Ambiente , Cabras/classificação , Modelos Estatísticos , Análise de Regressão , EspanhaRESUMO
Uric acid (UA) is an endogenous antioxidant. Some studies have described that multiple sclerosis (MS) patients have lower serum UA levels than controls, although it has not been established whether UA is primarily deficient, or secondarily reduced due to its scavenging activity. UA has also been proposed as an indicator of disease activity. We, retrospectively, reviewed 478 serum UA levels obtained in 94 MS patients. Ninety samples were collected during a relapse. Correlation between UA levels obtained during a relapse or in a relapse-free period, and comparison between UA and expanded disability status scale (EDSS) score was tested using a two-tailed Student's t test and Spearman correlation coefficients test. UA levels were significantly lower when measured during a relapse (n 90) than in a remission period (n 368) (r -0.16, p 0.003) UA levels measured outside a relapse inversely correlated with EDSS score (r -0.15, p 0.001). Lower uric acid levels in MS patients are associated with clinical relapse. This is the first description of an inverse correlation of serum UA levels with disability as assessed by EDSS score.
Assuntos
Esclerose Múltipla/sangue , Ácido Úrico/sangue , Adolescente , Adulto , Idoso , Biomarcadores/análise , Biomarcadores/sangue , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: Clinical trials with interferon beta in relapsing remitting multiple sclerosis (RRMS) have demonstrated a reduction in the relapse rate. Nevertheless, not all patients respond to this treatment, although there is no consensus regarding the definition of response to therapy. The reasons for this failure are not known but genetic factors probably influence this, as has been previously shown with Interleukin 10 or Interferon gamma polymorphisms. The role of apolipoprotein E (APOE) gene in MS has been investigated and does not appear to increase risk for MS or influence disease severity. Interestingly APOE variation influences response to cholinesterase inhibitor treatment in Alzheimer disease or to statins in hypercholesterolemia. This might have future implications for MS. MATERIAL AND METHODS: We retrospectively reviewed 38 RRMS patients (32 females and 6 males) treated with interferon beta (INFbeta) over at least two years. Criteria for treatment were uniform accordingly to an "Advisory Committee for the Treatment of Multiple Sclerosis". We collected data variables including age, age of onset, clinical type or disease duration. Patients were classified, two years after the start of treatment, as responders and non-responders based upon clinical criteria available in the literature, which rely on the presence of relapses, increase of disability, or both. APOE genotype was determined from blood samples using validated polymerase chain reaction methods. Correlation between patient responding status with allele E2 or E4 was tested. RESULTS: A total of 20 patients (52.6%) received subcutaneous INFbeta1b (Betaferón(®)), 13 (34.2%) INFbeta1a intramuscular (Avonex(®)), and 5 (13.2%) subcutaneous INFbeta1a (Rebif(®)). We found 2 patients (5.2%) heterozygous for the E2 allele and 9 (23.7%) for the E4 allele. No patient was homozygous for E2 or E4. Comparison of patients with and without E2 or E4 allele showed no significant differences in any of the ten therapy response variables assessed. CONCLUSION: Findings of a recent meta-analysis have not supported a role for APOE in MS susceptibility or severity. We have not found, in our data, any influence of this gene in the RRMS response to INFbeta. However, larger series would be required to validate these results.
Assuntos
Adjuvantes Imunológicos/uso terapêutico , Apolipoproteínas E/genética , Interferon beta/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/genética , Polimorfismo Genético , Adulto , Feminino , Humanos , Interferon beta-1a , Interferon beta-1b , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
The management of intra-abdominal testis can be challenging, as evidenced by the multiple methods suggested for its assessment and treatment. In this paper, we report our long-term results for our 14-year surgical experience with laparoscopic management. Methods. Retrospective study of laparoscopic interventions performed at our department for nonpalpable testes between 1996 and 2009. In 174 procedures, we found 72 intra-abdominal testes (5 bilateral) and 25 direct orchiopexies (3 bilateral) were performed. One-stage Fowler-Stephens orchiopexies (FSO) were performed in 5 children. 40 boys underwent the two-stage FSO technique (2 bilateral) in those that reached the contralateral inguinal ring. The second stage was performed in 4 cases with a laparoscopic approach, the rest of them underwent an inguinal procedure exclusively. Mean age for the first intervention was 3.7 yrs, and the second stage was performed on average after 10.9 months. Of 42 undescended testes, 22 were on the right side and 20 on the left side. Median followup was 24 months. Results. Of 42 two-stage FSOs performed, 27 surgeries were very successful, with a testis size equivalent to the contralateral mate; 7 had good results, with a smaller testis (volume up to 50% of contralateral); and 7 resulted in atrophic testis. No complications were encountered during surgery. Conclusions. There is no doubt about the usefulness of laparoscopy for intra-abdominal testes with short spermatic vessels, and the two-stage Fowler-Stephens technique should be the procedure of choice given its high success rate.
Assuntos
Criptorquidismo/cirurgia , Laparoscopia , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Tempo , Procedimentos Cirúrgicos Urológicos Masculinos/métodosRESUMO
INTRODUCTION: Non-resectable liver tumors are one of the most frequent indications of pediatric liver transplantation. However, the usefulness of interventional techniques is still to be exploited. This is the case of a patient with a non-resectable liver sarcoma proposed for liver transplantation, which could be avoided as the tumor was fully resected following selective portal embolization combined with chemotherapy treatment. CLINICAL CASE: The patient was a 10-year-old female with a large hepatic mass compatible with undifferentiated PRETEXT III sarcoma treated according to the EpSSG RMS2005 protocol for high-risk tumors, but without achieving any reduction in volume. Given the risk of developing a small-for-size syndrome following a potential resection, a right portal embolization was performed in order to induce left hemi-liver hypertrophy. No response was observed after two months, so the patient was included on the liver transplantation list. However, one month later, a significant reduction in mass volume was noted at a control CT-scan, which meant the tumor could be resected while avoiding transplantation. The one-year follow-up was uneventful. DISCUSSSION: Interventional techniques should be considered as the main therapeutic option in non-resectable liver tumors, since they could potentially avoid transplantation in selected patients.
INTRODUCCION: Los tumores hepáticos irresecables figuran entre las indicaciones más frecuentes del trasplante hepático pediátrico. Sin embargo, las técnicas intervencionistas suponen un campo terapéutico con utilidades aún por explotar. Presentamos el caso de una paciente con un sarcoma hepático irresecable propuesta para trasplante hepático, que pudo evitarlo al ser completamente resecado tras realizar una embolización portal selectiva coadyuvante al tratamiento quimioterápico. CASO CLINICO: Paciente mujer de 10 años con masa hepática de gran tamaño compatible con sarcoma indiferenciado PRETEXT III tratado según el protocolo EpSSG RMS2005 para tumores de alto riesgo sin conseguir reducción del mismo. Debido al riesgo de desarrollar un síndrome small-for-size tras una eventual resección, se llevó a cabo una embolización portal derecha para inducir la hipertrofia del hemi-hígado izquierdo. Tras dos meses no se evidenció respuesta alguna, por lo que la paciente fue incluida en lista de trasplante hepático. Sin embargo, un mes después se observó una clara disminución de la masa en un TC de control y la resección pudo realizarse con éxito evitando así el trasplante. Tras un año de seguimiento, la paciente no presentó ningún evento clínico de interés. DISCUSION: Las técnicas intervencionistas deben ser consideradas como una opción terapéutica en tumores hepáticos irresecables, ya que podrían evitar el trasplante en pacientes seleccionados.
Assuntos
Embolização Terapêutica , Neoplasias Hepáticas , Transplante de Fígado , Criança , Feminino , Hepatectomia , Humanos , Hipertrofia , Neoplasias Hepáticas/cirurgia , Veia Porta , Carga TumoralRESUMO
Records from the milk recording scheme of Spanish Murciano-Granadina goats were studied to estimate genetic (co)variance components and breeding values throughout the first and second lactations. The data used consisted of 49,696 monthly test-day records of milk (MY), protein (PY), fat (FY), and dry matter (DMY) yields from 5,163 goats, distributed in 20 herds, offspring of 2,086 does and 206 bucks. These records were analyzed by 2-trait random regression models (RRM) and a repeatability test-day model (RTDM). At the middle of lactation, heritability estimates for MY, DMY, and FY obtained with RTDM were larger than those estimated with RRM, and the opposite was true for PY. The RRM estimates of heritability for MY, FY, and PY were very similar throughout the trajectories of both lactations. Heritability estimates for DMY decreased through the lactation period. The genetic correlations between the first and second lactation records estimated for all traits by RRM were positive and ranged from 0.43 to 0.80 throughout the lactation curves. The correlation between BV estimated with RTDM and RRM was 0.742 for MY and 0.664 for DMY. The RRM could be a useful alternative to RTDM for the prediction of BV in this breed.
Assuntos
Cabras/genética , Lactação/genética , Leite/metabolismo , Animais , Cruzamento , Feminino , Cabras/fisiologia , Lactação/fisiologia , Leite/química , Proteínas do Leite/análise , Modelos Genéticos , Característica Quantitativa Herdável , Análise de RegressãoRESUMO
The main goal of the current work was to identify single nucleotide polymorphisms (SNP) that might create or disrupt microRNA (miRNA) target sites in the caprine casein genes. The 3' untranslated regions of the goat alpha(S1)-, alpha(S2)-, beta-, and kappa-casein genes (CSN1S1, CSN1S2, CSN2, and CSN3, respectively) were resequenced in 25 individuals of the Murciano-Granadina, Cashmere, Canarian, Saanen, and Sahelian breeds. Five SNP were identified through this strategy: c.175C>T at CSN1S1; c.109T>C, c.139G>C, and c.160T>C at CSN1S2; and c.216C>T at CSN2. Analysis with the Patrocles Finder tool predicted that all of these SNP are located within regions complementary to the seed of diverse miRNA sequences. These in silico results suggest that polymorphism at miRNA target sites might have some effect on casein expression. We explored this issue by genotyping the c.175C>T SNP (CSN1S1) in 85 Murciano-Granadina goats with records for milk CSN1S1 concentrations. This substitution destroys a putative target site for miR-101, a miRNA known to be expressed in the bovine mammary gland. Although TT goats had higher levels (6.25 g/L) of CSN1S1 than their CT (6.05 g/L) and CC (6.04 g/L) counterparts, these differences were not significant. Experimental confirmation of the miRNA target sites predicted in the current work and performance of additional association analyses in other goat populations will be an essential step to find out if polymorphic miRNA target sites constitute an important source of variation in casein expression.
Assuntos
Caseínas/genética , Variação Genética , Cabras/genética , Lactação/genética , Leite/química , Regiões 3' não Traduzidas , Animais , Cruzamento , Feminino , Cabras/metabolismo , MicroRNAs/química , MicroRNAs/genética , Leite/normas , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Genetic variability of the caprine stearoyl-CoA desaturase 1 (SCD1) gene has been investigated by sequencing a 4.7-kb cDNA in 6 goats from the Murciano-Granadina and Malagueña breeds. Sequence alignment revealed the existence of one synonymous polymorphism at exon 5 (c.732C>T) and one nucleotide substitution (c.*3504G>A) at exon 6 that encodes the 3' untranslated region (UTR). Moreover, the existence of a previously reported 3'UTR polymorphism involving a 3-bp indel (c.*1902_1904delTGT) was confirmed. Single nucleotide polymorphism and haplotype-based association analyses revealed suggestive associations between genetic variability of the SCD1 locus and lactose, stearic, polyunsaturated, and conjugated linoleic fatty acid contents. Associations with milk fatty acid composition might be explained by the global effects that SCD1 exerts on mammary gland lipid metabolism through the down-modulation of key transcription factors. Interestingly, the performance of an in silico analysis revealed that the c.*1902_1904delTGT polymorphism involves a considerable change in the secondary structure of the SCD1 mRNA. Gene reporter assays and quantitative PCR analysis would be needed to assess if this mutation has a causal effect on milk polyunsaturated and conjugated linoleic fatty acid levels by altering the amount of SCD1 transcripts in mammary epithelial cells.
Assuntos
Ácidos Graxos/análise , Cabras/genética , Leite/química , Polimorfismo de Nucleotídeo Único/genética , Estearoil-CoA Dessaturase/genética , Animais , Feminino , Furanos , Genes/genética , Estudos de Associação Genética/veterinária , Cabras/metabolismo , Haplótipos/genética , Metabolismo dos Lipídeos/genética , Estearoil-CoA Dessaturase/metabolismo , TiofenosRESUMO
INTRODUCTION: Pilonidal sinus (PS) is a highly frequent condition in teenagers. There is no consensus on which type of closure should be carried out following surgical removal. Our objective is to compare primary closure (PC) results with secondary closure (SC) or deferred closure results. MATERIALS AND METHODS: Patients undergoing surgery for PS between 2013 and 2018 were studied and classified according to the type of closure. Presence of infection at removal, recurrence rate, pre- and postoperative antibiotic treat-ment, number of previous drainages, and sinus size were analyzed. RESULTS: Of the 57 patients (29 of whom women), 29 were treated using PC and 28 using SC. Mean age was 14±1 years in the PC group, and 16±1 years in the SC group. PC patients presented a postoperative partial dehiscence rate of 26%. No statistically significant differences were found between groups regarding the presence of infection at surgery, recurrence rate, postoperative antibiotic treat-ment, number of previous drainages, and sinus size (p>0.05). The SC group re-quired more postoperative dressings [4 (0-6) vs. 8 (2-11) (p<0.01)] and longer time to healing [60 days (9-240) vs. 98 days (30-450) (p<0.01)]. CONCLUSIONS: 1 out of 4 PS patients with PC presents postoperative partial dehiscence. However, PC involves fewer subsequent dressings and shorter heal-ing times as compared to SC.
INTRODUCCION: El sinus pilonidal (SP) es muy frecuente en adolescentes. Tras la escisión quirúrgica no existe consenso sobre qué tipo de cierre es el más idóneo. Nuestro objetivo es comparar resultados del cierre primario (CP) frente al cierre por segunda intención o diferido (CD). MATERIAL Y METODOS: Estudiamos los pacientes intervenidos de SP desde 2013-2018, clasificándolos según el tipo de cierre. Se analizaron la presencia de infección en el momento de la escisión, la tasa de recidiva, el tratamiento antibiótico pre/postoperatorio, el número de drenajes previos y el tamaño del sinus. RESULTADOS: De los 57 pacientes (29 mujeres), 29 fueron tratados mediante CP y 28 con CD. Su edad media fue de 14 años ± 1a en el grupo CP y 16 años ± 1a en el CD. Los pacientes con CP presentaron una tasa de dehiscencia parcial postoperatoria del 26%. No encontramos diferencias significativas en la presencia de infección en el momento de la intervención, en la tasa de recidiva entre ambos grupos, el tratamiento antibiótico postoperatorio, el número de drenajes previos o el tamaño del sinus (p>0,05). El grupo de CD requirió mayor número de curas postoperatorias [4 (0-6) vs. 8 (2-11) (p<0,01)] y mayor tiempo hasta la curación [60 días (9-240) vs. 98 días (30-450) (p<0,01)]. CONCLUSIONES: Uno de cada 4 pacientes con cierre primario del SP presenta dehiscencia parcial postoperatoria. A pesar de ello las curas posteriores y el tiempo de curación son inferiores comparados con el cierre por segunda intención.
Assuntos
Seio Pilonidal/cirurgia , Técnicas de Fechamento de Ferimentos/classificação , Adolescente , Antibacterianos/uso terapêutico , Drenagem/estatística & dados numéricos , Feminino , Humanos , Masculino , Seio Pilonidal/patologia , Recidiva , Estudos Retrospectivos , Deiscência da Ferida Operatória/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: The success of primary bladder closure in bladder exstrophy (BE) is the determining factor for future capacity and continence. In recent years, owing to the unsatisfactory results of staged repair, complete delayed primary reconstruction has gained prominence. OBJECTIVE: To analyze short-term results in male patients with BE undergoing delayed primary closure and compare them with early bladder closure as part of staged repair in our healthcare facility. MATERIALS AND METHODS: The success of bladder closure, postoperative management, complications, and hydronephrosis was assessed over a 12-month follow-up period in both groups: early primary closure (group A) and delayed primary closure (group B). RESULTS: In group A (n=13), mean age at closure was 25 hours and mean pubic diastasis was 32 mm. Patients had respiratory support and muscle relaxation for an average of 4 days postoperatively. Closure success was 85%, and 1 patient presented maintained hydronephrosis beyond the first 6 months. In group B (n=6), mean at closure was 58 days, and mean pubic diastasis was 34 mm. Patients had epidural analgesia and no respiratory support postoperatively. Closure success was 100%. 33% had transient hydronephrosis, and 1 patient (17%) presented maintained bilateral hydronephrosis. The same immobilization technique was used in both groups for 3 weeks. CONCLUSIONS: Delayed primary reconstruction is safe as it allows for closure success without increasing complications as compared to staged repair. A long-term follow-up is required to assess urinary continence, esthetic results, and genital functionality.
INTROUCCION: El éxito del cierre primario vesical en la extrofia (EV) es el factor determinante de la capacidad y continencia futuras. En los últimos años, debido a los resultados poco satisfactorios de la reparación por estadios, la reconstrucción primaria completa diferida ha adquirido mayor protagonismo. OBJETIVO: Analizar los resultados a corto plazo en varones con EV sometidos a cierre primario diferido y compararlos con el cierre vesical precoz en la reparación por estadios en nuestro centro. MATERIAL Y METODOS: Evaluamos el éxito del cierre vesical, el manejo postoperatorio, las complicaciones y la presencia de hidronefrosis durante un tiempo de seguimiento de 12 meses en los grupos: cierre primario precoz (grupo A) y diferido (grupo B). RESULTADOS: En el grupo A (n= 13) la edad media al cierre fue de 25 horas y la diástasis púbica media de 32 mm. Permaneció con asistencia respiratoria y relajación muscular una media de 4 días en el postoperatorio. El éxito del cierre fue del 85% y un paciente mantuvo hidronefrosis más allá de los 6 primeros meses. En el grupo B (n= 6), la edad media al cierre fue de 58 días, la diástasis púbica de 34 mm y se mantuvieron en el postoperatorio con analgesia epidural, sin asistencia respiratoria. El éxito del cierre fue del 100%, el 33% presentó hidronefrosis transitoria y un paciente (17%) hidronefrosis bilateral mantenida. En ambos grupos se empleó igual inmovilización durante 3 semanas. CONCLUSIONES: La reconstrucción primaria diferida es segura, permitiendo el éxito del cierre sin aumentar las complicaciones, comparado con la reparación por estadios. Es necesario un seguimiento a largo plazo para evaluar la continencia urinaria, el resultado estético y la funcionalidad genital.