Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Resultados 1 - 20 de 71
Filtrar
1.
Cir Pediatr ; 24(4): 192-5, 2011 Oct.
Artículo en Español | MEDLINE | ID: mdl-23155630

RESUMEN

BACKGROUND: To present our early experience in the use of Cutting-Balloon for the treatment of resistant or relapsed ureteropelvic junction obstruction (UPJO) after a prior endourological retrograde high-pressure balloon dilatation (RHPBD). MATERIALS AND METHODS: Patients with progressive hydronephrosis and impaired drainage of the renal pelvis on a diuretic renal scan were treated with RHPBD. In those patients with resistant UPJO (waist persistence after dilatation) or relapsed UPJO, we consider using a Cutting-Balloon as an alternative to our current protocol (second RHPBD or open surgery). A JJ stent was placed following the procedure, and removed at 4-6 weeks. Outcomes were evaluated 3 and 6 months after stent removal, and every 6 months thereafter, repeating renal ultrasonography and diuretic renal scan. RESULTS: Between 2008 and 2010 we treated with Cutting-balloon 5 patients (4 male, 1 woman) with UPJO (left side: 3 cases, right side: 1 case, bilateral: 1 case) with a mean age of 3 months (range, 10 days to 7 months). Four cases had resistant UPJO and 1 case relapsed UPJO. After the procedure, and during the follow-up period of 12 months (range, 9-18 months), no further treatment was necessary. Four patients had improvement of hydronephrosis, with normal relative renal function (RRF). One patient (RRF 18% before treatment) did not improve. No periprocedural complications occurred. CONCLUSIONS: Cutting-balloon retrograde endopyelotomy seems to be a treatment with encouraging early results for resistant and relapsed UPJO, after a prior RHPBD. We believe that further clinical evaluation is needed to confirm these findings.


Asunto(s)
Criocirugía/instrumentación , Criocirugía/métodos , Endoscopía , Pelvis Renal/cirugía , Obstrucción Ureteral/cirugía , Diseño de Equipo , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos
2.
Cir Pediatr ; 24(4): 208-13, 2011 Oct.
Artículo en Español | MEDLINE | ID: mdl-23155633

RESUMEN

Long-term indwelling central venous access devices are frequently used in pediatric patients. Their main complication is infection, that can even mean their removal. We try to identify the risk factors really involved in this complication and in their removal. We have made a retrospective review of 120 oncologic pediatric patients who received a central venous device between 2003 and 2009. We searched for epidemiologic, clinic, microbiologic and surgical risk factors. We made a comparative data analysis among: GROUP A, children who suffered device infection, GROUP B the others. Group A was divided into early infection (first month after implantation)/late infection, removed/not removed. Data were analized with statistical program SPSS. 29 suffered from leukemia, 19 from lymphoma and the main part, 72, from solid tumour. 31% experienced infection (GROUP A), being early in the 36% of them. 16% had to be withdrawn. Data analysis revealed statistical association with the age (p=0.015) and with the reception of chemiotherapic treatment the week before the surgical insertion. The rest of the studied factors did not revealed a real association, but could be guess a relationship among infection and leukemia, subclavian catheters, those patients whose deviced was introduced using a guide over a previous catheter and also transplanted. Related to early infection the only associateon founded was with the subclavian access (p=0.018). In conclusion, in our serie long-term central venous access infection was more frequent in the younger patients and also in those who had received chemotherapy the week before the catheter implantation. The tendency towards infection in leukemia, transplanted and subclavian carriers has to be studied in a prospective way with a larger number of oncologic children.


Asunto(s)
Infecciones Relacionadas con Catéteres/etiología , Infecciones Relacionadas con Catéteres/prevención & control , Catéteres de Permanencia/efectos adversos , Catéteres Venosos Centrales/efectos adversos , Neoplasias/tratamiento farmacológico , Niño , Femenino , Humanos , Masculino , Estudios Retrospectivos
3.
Cir Pediatr ; 24(3): 146-50, 2011 Aug.
Artículo en Español | MEDLINE | ID: mdl-22295655

RESUMEN

INTRODUCTION: Peritoneal drainage is one of the options for treatment in necrotizing enterocolitis (NEC). Currently its role is controversial as an alternative to laparotomy in low birthweight and mortality associated with both procedures is high (35-55%). MATERIAL AND METHODS: We reviewed 30 low-weight premature (< 1000 g) with NEC treated surgically. We evaluate the hemodynamic, respiratory and metabolic status of the patients, as well as multi-organ involvement and the need for inotropic drugs. These data were analyzed previos to surgery and at 6 and 12 hours. We divided the sample into two groups: those who underwent peritoneal drainage (PD) input or laparotomy (LAP). RESULTS: In the series the average birth weight was 754 +/- 156 g and gestational age was 26.1 +/- 2.1 weeks. We carry on 10 peritoneal drainage and 20 laparotomies. The DP group before the intervention showed increased heart rate, FiO2 and acidosis (p < 0.05). The needs of dopamine were similar in both groups. Following the peritoneal drainage, we found breathing improvement (adequate ventilation and oxygenation, decreased FiO2) and hemodynamic improvement (blood pressure maintained, reduced heart rate, reduced requirements for dopamine) at 6 and 12 h. DP was not the definitive treatment in any of the patiens, and all survivors (80%) of this group required further laparotomy. 62% of them died. Overall mortality was 47% (70% DP and 35% LAP, p = 0.07). CONCLUSIONS: Peritoneal drainage allowed the stabilization of low-weight premature in critical condition. The hemodynamic and respiratory stabilization was transient and did not prevent the definitive surgical treatment, although it improved the conditions for doing so. In our series, the peritoneal drainage did not improve long-term survival, questioning its role as an alternative to surgery for NEC.


Asunto(s)
Drenaje/métodos , Enterocolitis Necrotizante/cirugía , Enfermedad Crítica , Árboles de Decisión , Humanos , Recien Nacido con Peso al Nacer Extremadamente Bajo , Recién Nacido , Peritoneo , Estudios Retrospectivos
4.
Cir Pediatr ; 24(1): 51-4, 2011 Jan.
Artículo en Español | MEDLINE | ID: mdl-23155652

RESUMEN

INTRODUCTION: Phimosis is perhaps one of the most frequent consultation on pediatric surgery clinics throught the world. The aim of this study is to compare the two procedures more frequently performed in our hospital: dorsal slit and circumcision. PATIENTS Y METHODS: Retrospective study of 1698 patients who were admitted for elective surgical treatment of phimosis between 2003 and 2009. We analyzed age, surgical and anesthethic times, surgical technique and complications. We also did transversal descriptive study through telephonic survey on parents and patients older than 16 years old. RESULTS: There was 76.6% of dorsal slit (n = 1300) and 23.4% (n= 398) of circumcisions. Mean age was 7.15 years y mean time of follow up was 42.3 months. Surgical time was significantly higher in circumcision (p < 0.0001). There were 3% (n = 51) of reoperations, no differences between groups. We didn't find differences in postoperative stenosis, but bleeding was more frequent in circumcision group (1.7%; p = 0.03). There were no differences on parental appreciation of postoperative pain, or functional and esthetic satisfaction between groups. CONCLUSIONS: We didn't find differences on subjective satisfaction between groups. Even if there are differences n postoperative bleeding, global incidence is very low. In our experience both techniques are valid and safe, so surgeon and parents must jointly make the decision.


Asunto(s)
Circuncisión Masculina/métodos , Fimosis/cirugía , Prepucio/cirugía , Humanos , Lactante , Masculino , Estudios Retrospectivos , Procedimientos Quirúrgicos Urológicos Masculinos/métodos
5.
Cir Pediatr ; 23(2): 77-81, 2010 Apr.
Artículo en Español | MEDLINE | ID: mdl-21298914

RESUMEN

BACKGROUND/PURPOSE: The treatment of hypertrophic pyloric stenosis is the Fredet-Ramstedt pyloromyotomy. It is controversial what surgical approach to choose. We evaluate our outcome with the right upper quadrant (RUQ) and the supraumbilical (SU) approach. METHODS: Between 2003 and 2007, we performed 38 pyloromyotomies through a RUQ incision and 18 through a SU approach. We analyze patient demographics and pre and postoperative data. We group the complications in major (duodenal perforation, inadequate pyloromyotomy, and wound dehiscence) and minor (seroma, hematoma, wound infection and incisional hernia). A nonrandomized comparison was performed between the two groups. RESULTS: We find significant differences in morbidity: 22.2% of major complications ocurred in the SU group versus 2.6% in the RUQ group, and 44.4% of minor complications were encountered in the SU group versus 2.6% in the RUQ group (P < 0.005). CONCLUSIONS: In our study we found a significantly higher overall complication rate in the SU group (p < 0.005), possibly because of a more difficult delivery of the pylorus through the SU incision and because of a probably increased rate of wound infection associated with the supraumbilical approach in the pediatric population.


Asunto(s)
Estenosis Hipertrófica del Piloro/cirugía , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos
6.
Cir Pediatr ; 23(3): 189-92, 2010 Jul.
Artículo en Español | MEDLINE | ID: mdl-23155668

RESUMEN

INTRODUCTION: Percutaneus gastrostomy placement is a procedure widely performed in children with failure to thrive or intolerance to oral feeding. At the moment of making the indication, the need of an antir-reflux surgery in the same procedure comes to question. The aim of this study was to analyse which preoperative factors are associated with a higher risk of a posterior fundoplication. MATERIAL AND METHODS: We realized a retrospective review of 67 patients divided in 2 groups (cases and controls) in which a percutaneus gastrostomy (PEG) had been made by our service in the period of 1997 to 2008. We compared these two groups: Group A (n=11) - patients with severe gastroesophageal reflux who required a Nissen procedure afterwards; Group B (n=56) - patients who kept without reflux after PEG. We analyzed the different preoperative factors that could have been in association to severe reflux after gastrostomy. RESULTS: Mean age at the moment of undergoing PEG was 15 months. Mean time of follow up was 3,5 years. Only neurological impairment and documented reflux pregastrostomy were associated with the need of an antirreflux surgery after PEG. CONCLUSIONS: Neurological impairment and documented pregastrosotmy GER could be an indication of concurrent antirreflux surgery at the time of gastrostomy.


Asunto(s)
Reflujo Gastroesofágico/cirugía , Gastrostomía/métodos , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
7.
Cir Pediatr ; 22(1): 45-8, 2009 Jan.
Artículo en Español | MEDLINE | ID: mdl-19323083

RESUMEN

INTRODUCTION: Imperforate anus without fistula is an uncommon anorectal malformation, in association to Down syndrome in 50% of cases. This anomaly is described as a lack of annus, with a blind rectal pouch, located about 2 cm above perineal skin, and sharing a common wall with the urethra or vagina. The aim of this work is to present our experience in this condition and to determine the differences between the diagnosis, treatment and long-term outcome of these patients in relation to other forms of anorectal malformation. MATERIALS AND METHODS: We reviewed the medical records of 12 patients treated in our department from 1998 to 2008. Eight were boys and 4 girls. Eleven of these patients had significant associated congenital diseases: Down syndrome (6), cardiovascular anomalies (6), urinary tract malformations (5), esophageal atresia (1). In all cases neonatal colostomy was performed, being 7 months (range between 1 and 19 months) the average age of the definitive surgery through posterior sagital approach. In one case a laparotomy was performed. The distance from the rectal pouch to the skin ranged from 1 to 5 cm, founding a very dilatated rectum in 4 patients. RESULTS: The postoperative outcome was favorable. Four patients required removal of a small anal prolapse. All patients older than 2 years (7) have urinary continence, while 5 of them have a significant constipation, resistant to treatment with diet and laxatives, requiring medical management with enemas. CONCLUSIONS: Our study confirms the high incidence of Down syndrome in patients with imperforate anus without fistula, and shows a higher incidence of other congenital comobidities. A colostrogram prior to definitive repair seems to be mandatory taking into account the intraopetative findings (height and diameter of rectal pouch). The incidence of anal prolapse is very high and may be related to the hypotonia present in patients with Down syndrome. Since the constipation is very severe in these patients, it should be controlled early in the follow up.


Asunto(s)
Ano Imperforado , Ano Imperforado/diagnóstico , Ano Imperforado/cirugía , Humanos , Lactante , Masculino
8.
Cir Pediatr ; 22(2): 61-4, 2009 Apr.
Artículo en Español | MEDLINE | ID: mdl-19715126

RESUMEN

AIM: The neonatal intensive care unit (NICU) is used in many centres as operating room in order to avoid the co-morbidities that there produces the movement of critical patients. The motive of this work is to analyze the advantages and disadvantages of this type of surgical interventions. METHODOLOGY: Between January, 2004 and December, 2007 405 newborns were operated in the NICU. The most frequent surgical realized interventions were: deferred closing breastbone (172), placement of ECMO (42), ligation of patent ductus arteriosus (45), laparotomies for necrotising enterocolitis (27), repair of congenital diaphragmatic hernia (20), plicate of diaphragms (5) and closing of gastroschisis (4). We realize a retrospective study of a group of 40 patients operated by diaphragmatic hernia and necrotising enterocolitis in the UCIN (group A) and compare them with a group of patients operated in the operating room with the same pathology (group B). We study 22 variables preoperatory, intraoperatory and postoperatory. For the statistical analysis T-student and Chi-square was in use, being considered to be statistically significant p < 0.05. RESULTS: The average ages of the patients to the intervention were 11.1 +/- 8 days being the predominant sex the masculine one (60 %). The age gestational and the average weight for the group A was 31.9 +/- 5.7 weeks and 1,735 +/- 123 grams being for the group B of 34 +/- 3.5 weeks and 2,037 +/- 728 grams respectively (p = N.S.). 89.3% of the patients of the group A was with intubation orotracheal before the surgery, being 57.2% for the group B. The needs of high frequency ventilation and vasoactives drugs were higher for the group A (p < 0.01) and the operative time was similar in both groups (81 +/- 34 vs. 98 +/- 33 minutes). We find a difference of corporal temperature pre-post surgery of 0.60 +/- 0.48 degrees C for the group A and 2.18 +/- 0.93 degrees C in the B (p < 0.01). We don't estimate differences as for episodes of infection of wound, intraabdominal infection or need of reintervention. The survival of the patients was discreetly higher for the group operated in the operating room (82.3%) with regard to the group operated in the NICU (60%) without statistically significant differences existed. CONCLUSIONS: In our experience the NICU is a suitable place to realize surgical interventions in critical patients. The higher mortality for the group controlled in the UCIN explains for a major instability preoperatory. The maintenance of the corporal temperature avoiding the hypothermia it's one of the decisive factors to diminish the morbi-mortality.


Asunto(s)
Unidades de Cuidados Intensivos , Quirófanos , Femenino , Humanos , Recién Nacido , Unidades de Cuidados Intensivos/organización & administración , Masculino
9.
Cir Pediatr ; 22(4): 205-9, 2009 Oct.
Artículo en Español | MEDLINE | ID: mdl-20405656

RESUMEN

OBJECTIVE: Introduction of advanced therapeutic modalities for diaphragmatic congenital hernia (CDH) has allowed to reach considerable improvements in survival rate. Nevertheless, there are few studies which analyze the clinical evolution of the long-term survivors. The aim of this work is to analyze the outcomes of the patients with CDH in our hospital. METHODS: Fifty-five neonates with CDH were treated in our center between 1998 and 2005. We included in the study those patients that were alive at the moment of first hospital discharge (72%; n=40 patients). ECMO therapy was needed in 6 of them during neonatal treatment. A descriptive transverse review of the clinical record as well as a telephonic interview to the parents was performed for the respiratory, cardiological, digestive and neurological conditions, following standard diagnostic studies in every case. The mean age of the children in the moment of the study was 4.2 years (1-9). RESULTS: The 8.3% of the children needed domiciliary oxygen therapy during a maximum of 3 months in all the cases. 22% of the cases suffered from respiratory problems, being bronchiolitis and pneumonia the most frequent diagnoses. Only a patient developed asthma. The gastroesophageal reflux is the most frequent long-term condition (47%), but only 8.3% needs surgical treatment. Regarding to cardiological problems, 14% developed pulmonary hypertension, being slight - moderate in all the cases but in one case who was the only deceased of the series. Regarding to neurological problems only 1 patient developed serious alterations (brain paralysis), having suffered a hemorrhage parenquimatosa during the treatment with ECMO. No other patient presents motor, visual nor auditory alterations in the development, last mild alteration in language (4 patients). Differences do not exist with the group of patients that did not need ECMO during the treatment in cardiological and digestive complications, being higher percentage with respiratory problems. CONCLUSION: In our sample only 2 patients present serious sequels (5%). Of this preliminary study we can conclude that the comorbility in the CDH is very low having these patient a good development and good quality of life.


Asunto(s)
Hernia Diafragmática/cirugía , Hernias Diafragmáticas Congénitas , Estudios Transversales , Humanos , Recién Nacido , Factores de Tiempo
10.
Cir Pediatr ; 21(3): 138-42, 2008 Jul.
Artículo en Español | MEDLINE | ID: mdl-18756866

RESUMEN

UNLABELLED: Tracheal stenosis (TS) is an unusual and sometimes lethal condition. It's treatment is basically surgical and different techniques have been proposed. AIM: Analyze the outcome of patients with TS diagnosed and treated in our institution realted to the applied surgical technique during the study period. MATERIAL AND METHODS: The clinical records of patients with TS (period 1991 to 2006) were reviewed analyzing the following variables: age, gender, associated malformations, intubation time, medium hospital stay and outcome. Patients were divided in 4 groups: conservative and endoscopic management (2 conservative, 1 dilatation, 1 laser), tracheal resection with termino-terminal anastomosis (RTA) (9 patients), tracheoplasties (slide or modified plasties) (20 patients) and anterior tracheoplasty with costal cartilage graft (TAIC) (6 patients). Results are expressed as media +/- standard error, comparative analysis was done using Chi square with continuity correction. Differences were considered statistically significant with a p < 0.05. RESULTS: 39 patients were reviewed (23 male, 16 female), medium age was 2.23 years. Associated malformations were: 12 vascular rings, 7 cardiac malformations, 4 Down syndromes, 1 pulmonary agenesia, 2 hemivertebtebrae, 1 renal agenesia and 1 cervicothoracic angiomatosis. Nineteen patients had short segment stenosis, 15 long segment stenosis (more than 1/3 of tracheal length) and 5 patients presented associated bronchial stenosis (most frequently right main bronchus). All TAIC failed: 4 deaths, 1 reestenosis and 1 persistent stenosis. In the tracheoplasty-group there were 2 exitus (1 due to a neurological lesion after a prolonged preoperative cardiorrespiratory arrest, one due to a surgical treatment delay with previous inadequate management). Patients treated with tracheoplasties and RTA had a favourable evolution and are asymptomatic in more than 80% of the cases after a mean follow-up of 59.9 +/- 7.4 months. In the conservative management group 2 patients died and 2 had a uneventful outcome. Global mortality was 20.5% (8 deaths). Differences observed in the mortality percentage between the study groups were statistically significant. (p = 0.0034) (50% in conservative management, 0% in RTA, 10% in tracheoplasties, 66.67% in TAIC). No statistically significant differences were found in the medium intubation time, medium hospital stay and medium follow-up time. CONCLUSIONS: The fundamental treatment of the tracheal stenosis is the surgical approach. Patients should be studied with great detail taking into account associated malformations (mostly heart defects and vascular rings) and should be treated by a multidisciplinary group. Short segmental TS should be corrected with RTA, long TS with tracheoplasties (slide), remaining the TAIC technique obsolete.


Asunto(s)
Estenosis Traqueal , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos , Factores de Tiempo , Estenosis Traqueal/diagnóstico , Estenosis Traqueal/cirugía
11.
Cir Pediatr ; 21(2): 100-3, 2008 Apr.
Artículo en Español | MEDLINE | ID: mdl-18624279

RESUMEN

PURPOSE: To emphasize the importance of genetic studies in family members and early prophylactic thyroidectomy in oncogene mutation carriers in the management of familiar medullary thyroid carcinoma. METHODS: A retrospective review of families with familiar medullary thyroid carcinoma treated at our center in the last 7 years was performed. We identified a total of 7 families who has isolated prevalences with thyroid malignancies. Forty members of the 7 families were screened for gene RET mutations. Prophylactic total thyroidectomy was performed in every RET mutation gene carriers. RESULTS: In all families the index case were patients with medullary thyroid carcinoma presenting at a mean age of 37.25 years (range 23-42). The RET oncogen mutation was in codon 634 in exon 11 (multiple endocrine neoplasia type 2A) in all these patients. Fourteen gene carriers were identified with a mean age of 20 years (range 7-37), eleven of whom had medullary thyroid carcinoma at the time of surgery. Five of the gene carriers were children, with a mean age of 11 years (range 7-16), four of whom had microcarcinoma and one had metastatic carcinoma at the time of surgery. After surgery no hypoparathyroidism or recurrent nerve paralysis were documented. No pediatric patient has presented with phaeochromocytoma or hypoparathyroidism to date Four of the five children have normal calcitonin levels (< 2 pg/ml) and they are free of disease. The one who presented metastatic carcinoma has recurrent disease and is awaiting surgical treatment. CONCLUSIONS: Genetic studies of family members related to patients with familiar medullary thyroid carcinoma and RET mutations is indispensable. The RET mutation in codon 634 exon 11 was found to be the most frequent association. Prophylactic thyroidectomy is the only curative treatment and has minimal complications when performed by expert surgeons. Early thyroidectomy is recommended since distant metastatic spread can occur at early age.


Asunto(s)
Carcinoma Medular/prevención & control , Neoplasias de la Tiroides/prevención & control , Tiroidectomía , Adolescente , Adulto , Carcinoma Medular/genética , Niño , Humanos , Estudios Retrospectivos , Neoplasias de la Tiroides/genética
12.
Transl Psychiatry ; 6: e768, 2016 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-27023174

RESUMEN

Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD and schizophrenia is commoner than expected based on their respective prevalences, complicating the clinical management of patients. This study addresses two main objectives: to identify particular genes associated with OCD by SNP-based and gene-based tests; and to test the existence of a polygenic risk shared with schizophrenia. The primary analysis was an exon-focused genome-wide association study of 370 OCD cases and 443 controls from Spain. A polygenic risk model based on the Psychiatric Genetics Consortium schizophrenia data set (PGC-SCZ2) was tested in our OCD data. A polygenic risk model based on our OCD data was tested on previous data of schizophrenia from our group. The most significant association at the gene-based test was found at DNM3 (P=7.9 × 10(-5)), a gene involved in synaptic vesicle endocytosis. The polygenic risk model from PGC-SCZ2 data was strongly associated with disease status in our OCD sample, reaching its most significant value after removal of the major histocompatibility complex region (lowest P=2.3 × 10(-6), explaining 3.7% of the variance). The shared polygenic risk was confirmed in our schizophrenia data. In conclusion, DNM3 may be involved in risk to OCD. The shared polygenic risk between schizophrenia and OCD may be partially responsible for the frequent comorbidity of both disorders, explaining epidemiological data on cross-disorder risk. This common etiology may have clinical implications.


Asunto(s)
Dinamina III/genética , Exones/genética , Herencia Multifactorial , Trastorno Obsesivo Compulsivo/genética , Esquizofrenia/genética , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Riesgo
13.
Transl Psychiatry ; 5: e607, 2015 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-26196440

RESUMEN

Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband-parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽ 1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P = 1.5 × 10(-)(4)). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0.018) and de novo mutations (P = 0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N = 614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios.


Asunto(s)
Exoma/genética , Genes Recesivos/genética , Esquizofrenia/genética , Estudios de Casos y Controles , Familia , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Genotipo , Heterocigoto , Homocigoto , Humanos , Masculino , Canales de Sodio Activados por Voltaje/genética
14.
J Neurol Sci ; 120(1): 115-7, 1993 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-8289072

RESUMEN

A 58-year-old woman with relapsing acute Guillain-Barré syndrome separated by long asymptomatic intervals presented clinical symptoms resembling those of brain death. She remained in this situation for 15 days and recovered with amnesia for this period. The amnesia was not explained either by metabolic encephalopathy or by sedative drugs. This case stresses the importance of the precise etiologic diagnosis of severe brain disease and the isoelectric EEG in brain death.


Asunto(s)
Muerte Encefálica/diagnóstico , Polirradiculoneuropatía/diagnóstico , Amnesia , Diagnóstico Diferencial , Electroencefalografía , Electromiografía , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Conducción Nerviosa , Polirradiculoneuropatía/fisiopatología , Polirradiculoneuropatía/psicología , Factores de Tiempo
15.
J Neurol Sci ; 43(3): 439-45, 1979 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-521837

RESUMEN

The latencies of evoked potentials recorded at different levels of the peripheral and central nervous system by median nerve stimulation were measured before and after dialysis, and compared with similar recordings in normal volunteers. Abnormally slow conduction velocity was more often found in proximal rather than in distal segments of the peripheral pathway in patients with chronic renal failure. This abnormality was not correlated with the presence of clinical signs of neuropathy or low values of motor conduction velocity, neither was it affected by dialysis. These findings support the hypothesis of peripheral nerve dysfunction secondary to metabolic derangement in uraemic patients.


Asunto(s)
Fallo Renal Crónico/fisiopatología , Conducción Nerviosa , Nervios Periféricos/fisiopatología , Adulto , Femenino , Humanos , Masculino , Nervio Mediano , Vías Nerviosas , Propiocepción/fisiología , Sensación/fisiología , Corteza Somatosensorial/fisiopatología , Uremia/fisiopatología
16.
Int Surg ; 62(8): 420-5, 1977 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-903202

RESUMEN

Sixty-nine patients (37.5%) presented recurrent pulmonary embolic phenomena. Of these, 62 patients underwent interruption of the inferior vena cava by total surgical ligature (11 patients) or partial interruption by means of a transvenous Mobin-Uddin umbrella filter (51 patients). The mortality was 0.9% in the ligature group and zero in the Mobin-Uddin filter group. Eight patients developed mild to moderate late sequelae in the inferior extremities following ligature. No sequelae were observed following the filter method. None of the patients treated by either form of inferior vena caval interruption developed evidence of recurrent pulmonary embolism. In our opinion, pulmonary perfusion isotopic scanning is the most accessible and reliable method for the diagnosis and follow-up of recurrent pulmonary embolic disease. The Mobin-Uddin inferior vena cava filter is an effective device for the control of recurrent pulmonary embolism, relatively easy to apply and highly satisfactory for the management of the seriously ill patient.


Asunto(s)
Filtración/instrumentación , Embolia Pulmonar/prevención & control , Vena Cava Inferior/cirugía , Adolescente , Adulto , Anciano , Anticoagulantes/uso terapéutico , Brazo/irrigación sanguínea , Femenino , Estudios de Seguimiento , Heparina/uso terapéutico , Humanos , Pierna/irrigación sanguínea , Ligadura/métodos , Masculino , Persona de Mediana Edad , Pelvis/irrigación sanguínea , Cuidados Posoperatorios , Complicaciones Posoperatorias/prevención & control , Embolia Pulmonar/etiología , Recurrencia , Tromboflebitis/complicaciones
17.
Med Clin (Barc) ; 74(5): 183-7, 1980 Mar 10.
Artículo en Español | MEDLINE | ID: mdl-7382611

RESUMEN

Spinal cord and central conduction velocities were studied in 12 patients with multiple sclerosis and in 20 healthy volunteers using an indirect method (Dorfman's) that includes the determination of the somatosensory evoked potentials by median and posterior tibial nerves stimulation, latency of the F-waves and motor and sensory conduction velocities in the wrist-elbow segment of the median nerve. Patients with symptoms and signs of demyelination showed very altered conductions in both of the segments studied, but five patients without clinical suspicion of sensory alteration showed normal spinal cord and supraspinal conduction time just in the limit of normality. The physiopathologic aspects of the demyelination lesions in the central nervous system that determine a block in the condution are discussed.


Asunto(s)
Esclerosis Múltiple/diagnóstico , Conducción Nerviosa , Adulto , Potenciales Evocados , Femenino , Humanos , Masculino , Nervio Mediano/fisiopatología , Métodos , Esclerosis Múltiple/fisiopatología , Médula Espinal/fisiopatología , Nervio Tibial/fisiopatología
18.
Med Clin (Barc) ; 75(5): 187-9, 1980 Sep 25.
Artículo en Español | MEDLINE | ID: mdl-7421350

RESUMEN

The characteristics of previous potentials of somatosensory evoked potential in 12 patients with lesions of the brain-stem and in 24 normal individuals have been studied. Lesions of the brain-stem were confirmed by means of computerized axial tomography, arteriography or necropsy. According to data reported by other authors somatosensory evoked potential is anteceded by three previous potentials with central latencies of 10, 12, and 14 milliseconds. Brain-stem lesions which do not involve the medial lemniscus showed normal potencials, while extensive lesions of the protuberance abolish P-12 potential and increase central latencies of P-14 and somatosensory evoked potential. P-12 potential originates in the medial lemniscus and P-14 potential in the thalamic nuclei. The present results confirm the interest of previous potentials of somatosensory evoked potential, as well as other neurophysiologic techniques, in the evaluation of lesions of the brain-stem.


Asunto(s)
Neoplasias Encefálicas/fisiopatología , Tronco Encefálico/fisiopatología , Trastornos Cerebrovasculares/fisiopatología , Neoplasias Encefálicas/diagnóstico , Trastornos Cerebrovasculares/diagnóstico , Diagnóstico Diferencial , Potenciales Evocados , Humanos , Persona de Mediana Edad
19.
Med Clin (Barc) ; 77(2): 64-8, 1981 Jun 25.
Artículo en Español | MEDLINE | ID: mdl-7321628

RESUMEN

Two patients with left occipitotemporal hematomas and another two with ischemic lesions in the territory of the left posterior cerebral artery presented alexia without agraphia, right homonymous hemianopsia, and a disturbance in the naming of colors. The etiology and the location of the lesion was demonstrated by computerized axial tomography in all four cases. After a period of follow-up of more than one year a good evolution was substantiated in the patients with hematoma. The mechanisms underlying the appearance of symptoms are discussed, and a comment is made on the importance of the splenium of the corpus callosum in the transfer of visual impulses, with the dissociations appearing in the disconnection syndromes due to lesions at this level.


Asunto(s)
Anomia/etiología , Afasia/etiología , Isquemia Encefálica/complicaciones , Hemorragia Cerebral/complicaciones , Dislexia Adquirida/etiología , Hemianopsia/etiología , Encéfalo/diagnóstico por imagen , Color , Cuerpo Calloso/patología , Hematoma/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Vías Visuales
20.
Med Clin (Barc) ; 76(5): 218-20, 1981 Mar 10.
Artículo en Español | MEDLINE | ID: mdl-6259460

RESUMEN

A prospective clinical and electrophysiologic study was performed in 50 alcoholic patients in order to assess the incidence and clinical manifestations of alcoholic polyneuropathy, the value of the electrophysiologic parameters studied, and the influence of liver disease on the appearance of neuropathy. The proposed criteria for polyneuropathy were fulfilled by 24% of the patients. Abolition of the Achillean reflexes was the most frequent clinical finding, while reduced amplitude of muscular potential was the most sensitive electrophysiologic parameter. There were no differences in alcohol consumption, frequency of liver disease, and degree of alteration of liver function in cirrhotics between patients with and without polyneuropathy.


Asunto(s)
Alcoholismo/complicaciones , Hepatopatías Alcohólicas/complicaciones , Enfermedades del Sistema Nervioso Periférico/etiología , Adulto , Anciano , Alcoholismo/fisiopatología , Electromiografía , Electrofisiología , Femenino , Humanos , Hepatopatías Alcohólicas/fisiopatología , Masculino , Persona de Mediana Edad , Conducción Nerviosa , Enfermedades del Sistema Nervioso Periférico/fisiopatología , Estudios Prospectivos , Reflejo de Estiramiento
SELECCIÓN DE REFERENCIAS
Detalles de la búsqueda