[Pneumonectomy in children]. / Neumonectomía en niños.

BACKGROUND/AIM: Pneumonectomy is seldom indicated in children and its long-term effects are not well known. The aim of the present study was to examine retrospectively the indications and the long-term sequelae in a relatively large cohort of patients treated at our institution. MATERIAL AND METHODS: We reviewed the charts of children undergoing pneumonectomy between 1969 and 2009 with particular attention to indications, techniques, complications, survival, pulmonary function and spine deformities RESULTS: Ten patients (M:F=6/4) aged 102 +/- 66 months underwent pneumonectomy for bronchiectasis (4, one with cystic fibrosis), tumors (4, 1 myofibroblastic inflammatory pseudotumor, 1 bronchial carcinoid, 1 primary pulmonary PNET and 1 massive metastasis of osteosarcoma) and malformations (2, 1 pulmonary sequestration and 1 congenital bilobar emphysema). Overall survival was 90% at 5.6 (0.3-23) years. Patients with bronchiectasis improved markedly except the one with cystic fibrosis who died. All children with tumors cured. Four have some degree of scoliosis which is severe in one with malformative costal fusion. All survivors live unrestristricted normal lives. Postoperative respiratory function is well preserved with FVC of 58% (40-70%), FEV1 of 60% (47-84%) and FEV1/FVC of 92% (87-98%) of the theoretical value for their height and weight. CONCLUSIONS: Pneumonectomy does not affect by itself to the overall survival, and the respiratory function is good and there is no impairment of the quality of life.

[Pediatric patient in adult age. Long-terms results of esophageal replacement]. / El paciente pediátrico en la edad adulta: revisión a largo plazo de los resultados de la sustitución esofágica.

BACKGROUND: Esophagocoloplasty is one of the most used procedures for esophageal replacement in children. Considering high life expectancy in these patients, long-term results must be considered when evaluating this technique. The aim of our study is to evaluate quality of life of adult patients who underwent surgery at pediatric age. PATIENTS AND METHODS: We report a retrospective study of 99 patients who underwent esophageal replacement in our institution between 1966 and 2006. Eight of them have died and 63 out of the remaining 91 are over 18 years now and represent our study serie. Long-term results and actual situation of those patients, considering psychological, physic and social aspects, were evaluated through clinical review and telephonic interview. Karnofsky index was applied to mesure functional ability from 0-100% (bad, medium, good-excellent) according to the answers the patients gave to our questions. We also recorded their health personal experience and subjective evaluation of their quality of life. RESULTS: Sixty-three patients were reviewed (43 males and 20 females) with a mean age of 4.3 +/- 3.4 D.S. Mean follow-up time was 29.6 +/-7.7 years. Indications for esophageal replacement were as follows: caustication (n = 32), type III esophageal atresia (n = 15), type I AE (n = 13) and others (n = 3). In 48 patients the graft was placed in retroestenal position and in 15 cases retromediastic location was used. Postoperative period was uneventful in 44% of the patients, being the most frequent early complications in the remaining, cervical leakage and stenosis. Long-term, 56,8% did not have any sequelae, 28.5% required further surgery and the remaining 43.13% presented the following complications: symptomatic graft reflux (22), scoliosis and thoracic asymmetry (12), colonic redundancy or cervical diverticulum (7), food impaction (6) and failure to thrive (5). Only one 38 year old patient does not have intestinal tract continuity nowadays. Thirty-one patients have a Karnofsky index > or = 80-100%, being considered healthy and able to have a normal activity. Eighteen patients are included between 40-80%, being the most frequent limitation the need of medication to avoid reflux, backache and occasional episodes of food impact. Only 2 patients have Karnofsky index inferior to 40%. None of them are under 20%. CONCLUSIONS: Esophagocoloplasty allows restoration of intestinal tract continuity in almost all cases and the mortality of this procedure has decreased over time. Even though some risks are still remarkable, it offers long-term good results with little repercussion on functional ability in adult age. Most of the patients consider themselves healthy and enjoy an acceptable quality of life.

[Congenital cystic adenomatoid malformation: prenatal diagnosis, surgical treatment results and long-term follow-up]. / Malformación adenomatoidea quística: diagnóstico prenatal, resultados de la cirugía y seguimiento a largo plazo.

PURPOSE: (PD), possibility of regresion and hidden mortality are open questions in congenital cystic adenomatoid malformation (CCAM) treatment. METHODS: Children with CCAM were reviewed focused on: PD, postnatal diagnosis, clinic, radiology, histology and evolution. RESULTS: Seventeen fetus had PD of CCAM. Five gestations were electively finished (41%) with PD of CCAM previous to 20th week, 3/5 (60%) were type III and 2/5 (40%) type I; 4/5 (80%) presented mediastinal shift and 1/5 (20%) hidrops. Two fetuses (11%) suffered fetal demise in 20th and 32th week; 1 type 1 and 1 type III; 1/2 (50%) presented hidrops and 2/2 (100%) mediastinal shift. Two (12%) died before 24 hours after birth without intervention possibility due to respiratory instability, 1 type II and 1 type III, both with mediastinal shift (100%). In one fetus with a type III malformation the image disappeared completely in 32th week and no intervention was done. Fourteen patients were operated (8 girls and 6 boys); 7/14 (50%) had PD, average diagnosis week was 21.9 (range 19.1-35.5), 5/7 (71%) was type I, 1/7 (14%) type II and 1/7 (14%) type III. None had mediastinal shift or hidrops. Average postnatal diagnosis week was 7 months (range 0.1-29). In 10/14 (71.4%) there were not respiratory difficulty during neonatal period and 3/10 (30%) suffered respiratory infections afterwards. Average week of operation was 8 months (range 0.1-30). PD was according with histology in 6/7 (86%) patients. After an average follow-up period of 4.3 years (range 1-9.5) the only complication is a pectus excavatum. CONCLUSIONS: More than half of patients with PD of CCAM died without intervention. Half of cases of CCAM are diagnosed prenatally. Type of CCAM in PD is according to histology in 86% of the cases. Fetuses with hidrops present a worse prognosis. Surgical timing do not seem to influence on outcome.

Congenital segmental fibromuscular hypertrophy of the esophagus and esophageal atresia: an uncommon case.

Although a rare entity, congenital esophageal stenosis due to segmental hypertrophy of the muscularis and submucosal layers with diffuse fibrosis should be considered a possibility in patients with esophageal stricture associated to congenital esophageal atresia. The efficacy of dilatation seems to be limited, and may even result in severe complications such as an esophageal rupture. Surgical repair for congenital esophageal stenosis is the authors' preferred treatment, although initial dilatation may be effective for some patients.

Prenatal diagnosis of gastric triplication.

Duplications of the intestinal tract are rare malformations, and triplications are even less common; only two cases are found in the literature. The authors describe a case of prenatal diagnosis of a gastric triplication and the surgical treatment.

[Soft tissue sarcomas (1991-2004)]. / Sarcomas de partes blandas 1991-2004.

BACKGROUND: The aim of this study is to review the results of the treatment of soft tissue sarcomas (STS) in our Department during the last 13 years. MATERIAL AND METHODS: Fifty-seven children (39 rhabdomyosarcomas (RMS) and 18 other types of sarcomas) have been treated. Nineteen RMS were excluded because they were treated by oher departments. The charts of 39 chidren were analysed evaluating several parameters (age, sex, location, histology, initial stage, clinical and surgical treatment and results) as prognostic factors using actuarial survival analyses and log-rank tests. RESULTS: 1. RMS: Median age at diagnosis was 2.3 years (range 6 m-16y). Twelve were genitourinary, 3 thoracic, 3 abdominal, 1 was located in limb and 1 in the neck. Histologically, 13 were embryonal, 5 botryoid, 1 alveolar and 1 fusiform. At diagnosis, 74% were in stages I or II. Fine needle aspiration biopsy (FNAB) was made in 5 children and the result was always imprecise or mistaken. Surgical biopsy was made before the definitive surgery in 12 cases. In the remaining 8 children the diagnosis was made only after surgical resection. With an mean follow-up of 70 +/- 43 moths, 6 children died. The prognostic factors associated with poor outcomes were genitourinary location, non radical excission, the presence of distant metastases at onset and alveolar histology. 2. Other sarcomas: Median age at diagnosis was 10.9 years (range 4 days-15 years). Among this group, there were 6 fibrosarcomas, 4 indifferentiated sarcomas, 3 synovial sarcomas, 2 abdominal desmoplastic small round cell tumours, 2 neurofibrosarcomas and 1 leiomyosarcoma. Only 9 received chemotherapy and one radiotherapy. All but one were operated. Five out ot the 19 died. CONCLUSIONS: Although the role of surgery is crucial, it is necessary to refine the initial histological diagnosis, because neither the PAAF or the biopsy have always been correct. The negative prognostic factors in our series were metastases present at diagnosis, genitourinary location and alveolar (RMS), desmoplastic or indifferenciated histology.

[Esophageal replacement. 12 years experience]. / Sustitución esofágica. Experiencia de 12 años.

UNLABELLED: Esophageal replacement is a surgical procedure rarely indicated in children. It is used in esophageal atresia type I and long-gap atresia when anastomosis is not possible, corrosive strictures and other unusual causes. Type and location of the graft depend on etiology and surgeon preferences. We analyse our results of a large series of esophageal replacement. METHODS: . We reviewed esophageal replacements carried out in our department between January-1992 and December-2004. We report 29 patients (15 girls and 14 boys) with ages ranging from 2 months until 14 years old (median 24 months). 11 (37.9%) had esophageal atresia type I, 7 (24.1%) long-gap esophageal atresia, 8 (27.5%) caustic esophagitis, 1 herpetic esophagitis, 1 candida esophagitis and 1 esophageal necrosis due to sclerotherapy. Colon was used for substitution in 25 cases (86.2%) and stomach in 4 (13.8%). Graft location was retromediastinal in 25 children (86.2%), retrosternal in 3 and subcutaneous in 1. Native esophagus was removed in all but 2 out of 3 retrosternal cases. RESULTS: After a follow up between 7 and 145 months (median 76 months) all children have a functional graft. Actually all patients tolerate oral feeding in a satisfactory way, and have had a normal pondostatural growth. Post-operative complications were pyloric obstruction in 3 patients (10.3%), upper anastomosis stricture in 3 (10.3%), 2 (6.9%) surgical wound evisceration, 2 (6.9%) diaphragmatic hernia, 1 (3.4%) retro-mediastinal abscess and 1 (3.4%) colo-gastric emptying difficulties. Also 2 pleural effusions, 1 cervical wound abscess and 1 abdominal wound one. Re-operation was needed in 11 patients (38%) due to these adverse events. Other complications were conservatively solved: 6 (20.7%) salivary fistula, 1 intestinal suboclusion and a dumping syndrome. One girl died due to a mycotic mediastinal abscess with perforation of the aorta 11 days after surgery. Overall survival was 96.5%. CONCLUSIONS: Esophageal replacement has limited indications. It allow a good functional result, with adequate oral feeding and normal growth. We believe that both colon and stomach have similar outcomes, but gastric pull-up is easier to perform. It is a major surgery whose risk of complications is higher in early post-operative time.

[Hirschsprung disease: lessons learned from the last 100 cases]. / Enfermedad de Hirschsprung: enseñanzas de los últimos 100 casos.

UNLABELLED: We analyize our experience in the management of the last consecutive 100 Hirschsprung's disease (HD) patients divided into two periods: 1992-1997 and 1998-2004, in order to find out differences in morbidity, mortality and outcome between them. MATERIAL AND METHODS: During this period, 72 males and 28 females were treated. Twelve had family history and five suffered from Down's syndrome. Information about clinical onset, need of stomas, surgical procedures, continence, outcome and mortality was recorded. We compared the results between the two groups with non-parametrics stadistics test. RESULTS: 50% of patients were symptomatic in the newborn period and 25% of them needed some surgical procedures. Seventy four patients suffered from rectosigmoid forms, fourteen colic forms and twelve were total colonic HD (7 with small bowel extension). Hystochemistry was diagnostic in 98%. Nursing was effective in 47 cases. Differences in the need of stomas were found between the two periods: 30% during the first period and 6% during the second one (p<0,05). Twenty percent (20) of the patients suffered from enterocolitis (with no differences between both groups), and 13 of them still had enterocolitis episodes in spite of stomas or pull-through procedures. We performed 49 Swenson, 29 Soave, 14 transanal and 2 Lester-Martin procedures. The median age at definitive operation was smaller in the last period when compared to the first (p< 0.05). We found good results on continence in 86%, with no relation with definitive surgical procedure nor with the period of time studied. CONCLUSIONS: The younger age at definitive treatment, the performance of stomas and the increase of transanal procedures were the principal differences between the two groups.

The status of nf1-grd mutation and p53 expression in neuroblastoma.

The role of tumor suppressor genes in neuroblastoma is currently under intensive research. Recent reports seem to show that the NF1 gene plays a role in the pathogenesis of this tumor. In this study mutations at the gap related domain (GRD) of the NF1 gene were assesed in 29 neuroblastic tumors by means of the polymerase chain reaction (PCR) in combination with the single strand conformation polymorphism technique (SSCP). We have also analysed p53 expression in 16 of those neuroblastomas by means of immunohistochemistry with a monoclonal antibody that stains normal and mutant p53 protein. In no case could we detect either p53 expression or NF1 gene mutations. In light of these and previous results we can virtually exclude p53 from the pathogenesis of neuroblastoma, while NF1 should be further studied -out of its GRD-before concluding on its definite role in neuroblastoma initiation and/or progression.

Allelic status of chromosome 1 in neoplasms of the nervous system.

By using five highly polymorphic markers, the allelic status of chromosome 1 was established in a series of 236 tumors of the nervous system, including all major histologic subtypes: gliomas, meningiomas, neurinomas, neuroblastomas, medulloblastomas, etc. Loss of alleles at 1p was observed at significant frequencies in neuroblastomas (26% of cases), meningiomas (32%), and malignant gliomas (37%) (primarily oligodendrogliomas [94%]). This anomaly was also detected in two of 23 neurinomas, two of three neurofibrosarcomas, one primary lymphoma, and two metastatic tumors of the brain. The analysis of tumors displaying partial 1p deletions suggests the existence of two distinct regions, 1p36 and 1p35-p32, in which loci nonrandomly involved in the development of neurogenic neoplasms might be located.

Hyperplasia of spermatic cord nerves: a sign of testicular absence.

The comparative histologic study of the spermatic cord in the absence of testis, epididymis-testis separation, and normal development of both testis and epididymis, revealed that there is nerve trunk hyperplasia and hypertrophy in absence of the testis. This finding may greatly aid the diagnosis of testicular absence in the management of impalpable testes.

Histologic lesions in undescended ectopic obstructed testes.

Testicular biopsies and hormone studies have been carried out on 229 children with unilateral (181) or bilateral (48) undescended ectopic obstructed testes not associated with other pathologic conditions. With regard to the histologic lesions, the obstructed testes may be classified into four types: (1) testes with minimal lesions (40.1%), showing slight reduction in both mean tubular diameter (MTD) and tubular fertility index (TFI); (2) testes with marked germinal hypoplasia (33.6%), showing slight or marked reduction in MTD and marked reduction in TFI; (3) testes with diffuse tubular hypoplasia (19.1%), showing severe reduction in MTD, marked or severe germinal hypoplasia, and normal or decreased Sertoli cell number per transverse tubular section (SCI); and (4) testes with Sertoli cell hyperplasia (7.2%), showing slightly decreased MTD, marked or severe germinal hypoplasia, and marked increased in SCI. These lesions are similar to those found in cryptorchid testes, although the proportion of testes with type III and IV lesions (the most severe) is lower than in cryptorchid testes. Hormone assays revealed normal basal gonadotropin and testosterone levels. The response of gonadotropins to gonadotropin-releasing hormone stimulation and the response of testosterone to human chorionic gonadotropin stimulation were normal or slightly reduced.

Pancreatic pseudocyst caused by valproic acid: case report and review of the literature.

The author reports one case of pseudocyst of the pancreas, an uncommon disorder in children, secondary to pancreatitis in a 9-year-old girl treated with valproic acid for epilepsy.

[Impact of complete resection on survival of patients with large neuroblastoma]. / Influencia de la resección completa en la supervivencia de pacientes con neuroblastomas extensos.

UNLABELLED: The aim of our study is to assess the role of complete resection after chemotherapy in stage 3 and 4 (INSS) neuroblastoma. MATERIAL AND METHODS: We treated in the period 1990-1997 a group of 71 infants and children with neural tumors. There were 63 neuroblastomas (median age: 24.8 +/- 25 months, median 18). 47 were abdominal, 13 thoracic, 2 pelvic and 1 cervical. Survival rate (Kaplan-Meier) in patients with or without complete resection of the tumor were assessed (Mantel Cox). RESULTS: 14 of 17 patients with stage 3 tumors and only 8 of 23 with stage 4 survive. All patients with stage 3 undergoing complete resection are alive, whereas only 4 of 7 with incomplete resection survive (p < 0.01). In contrast, the effort and risk of resection do not appear to be worth in stage 4. Two kidneys, one spleen and a portion of the pancreas were removed to perform complete tumor removal. CONCLUSIONS: Complete resection in stage 3 neuroblastoma after chemotherapy improves survival, and radical surgery seems justified even if neighboring structures have to be removed. Radical surgery does not seem to be useful in stage 4 neuroblastoma.

[Adrenocortical tumors in children]. / Tumores adrenocorticales en niños.

Adrenocortical tumors are uncommon in childhood. The incidence of these tumors is about 0.3-0.4% of all the solid tumors in childhood. Because of its low incidence, there are no established protocols or uniform histological classification. Most of these endocrine tumors are hormone producing, causing virilization, Cushing's syndrome, feminization, hiperaldosteronism or hipoglicemy. Only a few of these do not produce hormones. The treatment is always surgical. The efficacy of another treatments (chemotherapy or radiotherapy) has not been demonstrated in infancy. It prognosis depends on the age and the resectability.

[Early or late orchidopexy? An evaluation of germ cell proliferation by PCNA immune expression]. / Orquidopexia precoz o tardía? Valoración de la proliferación de las células germinales mediante inmunoexpresión de PCNA.

A immunocytochemical study for detection of proliferating cell nuclear antigen (PCNA) in order to quantify the number of PCNA-positive spermatogonia, and cytophotometric determination of spermatogonial DNA were performed in cryptorchid and control testes. The number of PCNA-positive spermatogonia, and the average DNA content of spermatogonia in the cryptorchid testes were altered from first years of age. These precocious spermatogonial alterations suggest that the early surgical testicular descent doesn't prevent lesions of germ cells.

[Congenital neuroblastomas]. / Neuroblastomas congénitos.

BACKGROUND: We consider congenital neuroblastomas (CN) those detected in pregnancy or at the very first hours of life. Due to perinatal sonography, its incidence has increased in the last years. We present herein our experience in the treatment of this condition and we try to find out any different clinical pattern from those neuroblastomas diagnosed later in life. METHODS: We review the CN treated in our hospital from 1990 to 2003, analyzing diagnosis, localization, tumor staging, N-myc amplification, treatment and evolution. RESULTS: Among the 107 neural tumors managed during this period (89 neuroblastomas, 18 ganglioneuromas), 8 were congenital neuroblastomas (7 girls, 1 boy). Two patients had prenatal diagnosis and 6 tumours were detected in routine exploration or casual findings upon neonatal examination. Six were abdominal, 1 thoracoabdominal and 1 abdominopelvic with dumbbell invasion. Three tumours were classified like stage 1, 1 stage 2, 1 stage 3, 1 stage 4 and 2 stage 4S. Although most of them had unfavorable histology, we didn't find N-myc amplification in any tumor. All patients were operated upon, with preoperative chemotherapy in 2 of them. Resection was complete in 7 out of the 8 tumors. The patient who presented neurological symptoms at birth recovered neither motility nor bladder function after resection. All of them survive after 60+/-53 months of follow-up. CONCLUSIONS: The outcome in this group of neuroblastomas is better that expected, probably because of its abdominal location. On the contrary in dumbbell neuroblastomas, neurological damage at birth seems to be irreversible.

[Sensibility and specificity of N-myc oncogene with respect to other prognostic factors in 15 neuroblastomas]. / Sensibilidad y especificidad del oncogén N-myc con respecto a otros factores de pronóstico en 15 neuroblastomas.

Several biologic features of tumor cells correlate closely with a favorable or unfavorable outcome. To aid in assessing correlation in the various number of prognostic factors including the age, stage, VMA/HVA ratios, and the serum levels of NSE and ferritin, the histopathological features, ploidy, partial monosomy for the short arm of chromosome 1, and the tumor N-myc gene copy number, are examined. We determined the sensitivity and specificity of classical markers above the amplification of the N-myc oncogene. A striking new observation is the positive correlation between genomic amplification and some prognostic factors (stage, ferritin, NSE, pathologic anatomy and 1p deletion.

[A retrospective study of delta F508 mutation in 22 patients operated on for meconium ileus]. / Estudio retrospectivo de la mutación delta F508 en 22 pacientes intervenidos por ileo meconial.

Meconium ileus is the earliest clinical manifestation of cystic fibrosis. We report 22 neonates with meconium ileus who had clinical evidence of cystic fibrosis. Patients were categorized as simple with inspissated meconium in the ileum with dilated loops proximally or complicated with volvulus or atresia and/or a perforation resulting in meconium peritonitis. Histopathology of the surgically resected specimens of small bowel revealed lesions typical of cystic fibrosis. Genetic studies were performed on all subjects, this study analyzes the usefulness in the detection of delta F508 mutation in formalin-fixed paraffin-embedded tissues obtained from patients with meconium ileus, ten of whom had the delta F508/delta F508 mutation.

[Aggressive conservative treatment remains the best option for oesophageal perforation in children]. / Perforaciones esofágicas: el tratamiento conservador agresivo como la mejor opción en la edad pediátrica.

UNLABELLED: Oesophageal perforation (OP) requires prompt and vigorous treatment. In contrast with adult patients in whom surgical closure of perforation is preferred, non-operative treatment has been the usual approach in children. The present report aims at assessing whether this strategy stands the passage of time. We studied retrospectively the charts of patients treated at our institution for OP between 1991 and 2001. Between these years, we treated 19 episodes of OP in 17 patients aged 5.3 +/- 0,94 years. In 9 cases (4 lye burns, 3 oesophageal atresias, 1 bullous epidermolysis and 1 mucocutaneous candidiasis) OP occurred during dilatation of strictures. Foreign body extraction was the cause in 3 cases, and blunt trauma and sclerosis of varices were the causes in 2 cases each. The last child had multiple gastrointestinal perforation during treatment for leukaemia. Subcutaneous emphysema was seen in 7 instances, pneumomediastinum/pneumothorax in 14, pleural effusion in 9, dyspnoea in 9, severe thoracic pain in 1 and pericardial effusion in 1. The diagnosis was intraoperative in only 2 children but the symptoms and imaging signs prompted vigorous treatment within the first 24 hours in 15 instances. One or more pleural tubes were inserted in 11 cases and pericardial drainage was required once. Perforations closed without direct surgery in 18/19 episodes (16/17 children). Five gastrotomies and 2 jejunostomies were performed and several major abdominal operations were necessary to repair concurrent lesions in a child who sustained severe blunt abdominal trauma and in the one with leukaemic perforations. All these patients survive and all recovered oesophageal function although 2 with intractable lye structures ultimately required oesophageal replacement 6 and 10 months after OP. The only patient in whom direct approach for esophageal necrosis after variceal endosclerosis was unavoidable lost her organ and had a replacement after a successful porto-systemic shunt. CONCLUSIONS: Prompt and aggressive non-operative approach of oesophageal perforations in children allows survival and conservation of the organ and its function in most cases and should remain the first therapeutic choice at this age.