Re: Combined buccal mucosa graft and local flap for urethral reconstruction in various forms of hypospadias.
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Humans↗
Biomedical subjects
Antonio Macedo
Publications and source records attributed to Antonio Macedo.
Nonpharmacological treatment of lower urinary tract dysfunction using biofeedback and transcutaneous electrical stimulation: a pilot study.
OBJECTIVE: To report a series of children with lower urinary tract dysfunction (LUTD) whose urge syndrome was treated by electrical stimulation, and their voiding dysfunction by biofeedback; none of the children were using anticholinergic drugs during treatment. PATIENTS AND METHODS: In all, 36 children who presented with symptoms of urinary urgency and/or daily incontinence completed the treatment and were prospectively evaluated. The mean (range) follow-up was 13.8 (4-24) months, and their mean age 7 (3-14) years, 17 children were aged <5 years. The children were divided into two groups: group 1, with urge syndrome treated with superficial parasacral electrical stimulation, and group 2, with voiding dysfunction, treated with biofeedback. RESULTS: In group 1, the mean (range) number of electrical stimulation sessions was 13.1 (4-20). Of the 19 children treated, 12 had a complete clinical improvement, six a significant improvement, and one a mild improvement. In group 2, the mean (range) number of biofeedback sessions was 6 (4-14). Of the 17 children treated, there was complete improvement of symptoms in 10, significant improvement in two and mild improvement in five. Six children who had no resolution of symptoms after biofeedback had salvage therapy with electrical stimulation, after which four had complete improvement of symptoms, and two a 90% and 40% improvement, respectively. Taking the two groups together, after treatment, four children developed isolated episodes of urinary tract infection. Of 21 children with nocturnal enuresis, bed-wetting continued in 13 (62%) after treatment. CONCLUSION: In this short-term follow-up, the nonpharmacological treatment of voiding dysfunction using biofeedback, and of urge syndrome by electrical stimulation, was effective for treating LUTD in children.
Adolescent↗
Gene expression analysis of peripheral blood leukocytes from discordant sib-pairs with schizophrenia and bipolar disorder reveals points of convergence between genetic and functional genomic approaches.
We performed global RNA transcript analysis and comprehensive gene group analysis of peripheral blood leukocyte (PBL) RNA from two groups of matched sib-pairs that were discordant for either schizophrenia (n = 33 sib-pairs) or bipolar disorder (n = 5 sib-pairs). The pairs chosen for these analyses were selected from families with known patterns of genetic linkage (5q for schizophrenia and 6q for bipolar disorder). At the single gene level, we obtained lists of the transcripts with the most significant changes in expression and from these lists determined those with the highest degree of predictive power for classifying subjects according to diagnosis in these samples. At the gene group level, we comprehensively analyzed pairwise expression changes of more than 4,000 functional groups and cytogenetic locations, and present a novel method of displaying these data that we term "cytogenomic" mapping. Verification of selected changes in expression was performed using quantitative real-time RT-PCR. Our results provide compelling evidence for the utility of analyzing PBL RNA for changes in expression in neuropsychiatric disorders.
Adult↗
Genetic linkage of bipolar disorder to chromosome 6q22 is a consistent finding in Portuguese subpopulations and may generalize to broader populations.
We recently reported genome-wide significant linkage to chromosome 6q for bipolar disorder, in a study of 25 Portuguese families, using the Human Mapping Assay Xba 131 (HMA10K). To explore the generalizability of this finding, we reanalyzed our SNP linkage data according to the families' geographic origin. Specifically, the 25 families included 20 families from the Portuguese island collection (PIC; 15 families from the Azores Islands and 5 from the Madeira Islands) and 5 families from continental Portugal. Non-parametric linkage analysis (NPL) was performed as previously described and indicated that each of these subpopulations showed evidence of linkage for the same region. To further address the potential generalizability of these findings to other populations, we have also examined allelic heterozygosity in our subpopulations and in three reference populations (Caucasian, East Asian, and African-American). This analysis indicated that the PIC population is highly correlated to the Caucasian reference population (R = 0.86) for all of chromosome 6. In contrast allelic heterozygosity was more weakly correlated between PIC and both East Asian (R = 0.37) and African-American (R = 0.32) reference populations. Taken together these observations suggest a shared genetic liability among Portuguese populations for bipolar disorder on chromosome 6q, and that the PIC population is likely representative of Caucasians in general.
Alleles↗
The Macedo-Malone antegrade continence enema procedure: early experience.
PURPOSE: The successful treatment of fecal incontinence can dramatically improve the quality of life of affected children. The introduction of the Malone antegrade continence enema provides the opportunity to manage previously resistant cases. However, using the to create this catheterizable channel is not always possible, and the duration of these antegrade enemas is a source of concern for the patients. We describe a new approach to create left continent colonic access to shorten the duration of these enemas, and report the experience gained from the first 9 cases managed at our institution. MATERIALS AND METHODS: During a 5-year period 9 patients underwent a Macedo-Malone antegrade continence enema at our institution. Incontinence was associated with myelomeningocele in 7 patients and anorectal malformation in 2. The antegrade continence enema procedure is begun by isolating a 2 cm flap in a tenia on the left colon (spleen flexure). A 12Fr silicone Foley catheter is placed on the mucosal surface of the flap to allow tubularization of the plate with interrupted polyglycolic acid 3-zero transverse sutures, creating an efferent tubular conduit. Antegrade colonic washouts were started 2 weeks after surgery with saline solution or tap water in all patients. RESULTS: Followup of our 9 cases ranged from 8 to 33 months (average 20.7). Enema volume varied from 250 to 800 ml, with administration taking from 45 to 60 minutes, and colonic evacuation occurred within 30 to 60 minutes of enema administration. Of the 9 patients 8 were completely continent and 1 was partially continent. Four patients experienced difficulty with catheterization initially because of stenosis of the stomal track. The affected stomas were dilated, which was successful in 1 case. Three patients subsequently required stomal revision. CONCLUSIONS: The Macedo-Malone procedure is a relatively straightforward operative approach providing an effective washout technique that is acceptable to parents and children.
Adolescent↗
The tunica vaginalis dorsal graft urethroplasty: experimental study in rabbits.
PURPOSE: We created an experimental model of urethral defect and then repaired it using a tunica vaginalis graft applied on the dorsal surface of the urethra. We studied the histological and radiological characteristics of free tunica vaginalis graft urethroplasty. MATERIALS AND METHODS: In 20 New Zealand rabbits a dorsal urethral defect was created by excising a portion of the dorsal urethral surface. The tunica vaginalis graft was placed dorsally over the corpora cavernosa and tied with 4 interrupted sutures. The mucosal margin of the urethral defect was sutured to the graft using 6-zero polydioxanone sutures in continuous fashion. The animals were divided into 4 equal groups and were sacrificed 14 days, and 4, 8 and 12 weeks after surgery, respectively. A retrograde urethrogram was done at autopsy. The penis was sent for histological analysis and an experienced pathologist evaluated the severity of acute and chronic inflammation, foreign body reaction and scar formation. RESULTS: There were no deaths related to the procedure and no intraoperative complications. All rabbits voided spontaneously after surgery. Retrograde urethrograms showed no fistula or stricture. As time after surgery increased, the signs of inflammation response disappeared, and the orientation of collagen fibrils and smooth muscle fascicles resembled that of a normal urethra. The mesothelial lining of the tunica vaginalis gradually became replaced by a more stratified epithelial lining, similar to the urothelial lining of the native urethra. CONCLUSIONS: In the current study we noted that a tunica vaginalis graft placed dorsally can be a successful urethral substitute in the animal model.
Animals↗
Does the less aggressive multimodal approach of treating bladder-prostate rhabdomyosarcoma preserve bladder function?
PURPOSE: The treatment of bladder-prostate rhabdomyosarcoma has evolved into multimodal therapy, including chemotherapy, radiotherapy and organ sparing surgery with bladder preservation. We investigated bladder function in children who underwent multimodal therapy at our institution and retained the original bladder for at least 6 months after treatment ended. MATERIALS AND METHODS: We evaluated 8 children with bladder-prostate rhabdomyosarcoma treated at our institution between 1999 and 2003 according to inclusion criteria. All patients underwent history, physical examination and urodynamic study at least 6 months after completion of treatment (range 6 to 39 months). RESULTS: All patients were treated following the same chemotherapy and radiotherapy scheme. Three patients (37.5%) were asymptomatic and had normal urodynamic studies, and 1 had only dysuria (this patient later underwent continent urinary diversion with transverse colon). The 4 remaining patients had urological complaints, and the urodynamic findings were reduced bladder capacity in 4, overactivity plus sensory urgency in 2, sensory urgency only in 1 and suprapubic pain during filling in 1. CONCLUSIONS: Among 8 patients 3 had normal urinary function and 4 had minor tolerable alterations. Cystectomy and urinary diversion were later necessary in only 1 patient due to disabling dysuria. The fact that the original functioning bladder was preserved in 7 of 8 patients suggests the feasibility of multimodal therapy. Long-term followup will still be necessary for definite conclusions, since we recognize that the deleterious effects, mainly of radiotherapy, may take longer to become evident.
Antineoplastic Combined Chemotherapy Protocols↗
Association between schizophrenia and the syntaxin 1A gene.
BACKGROUND: Both microarray and candidate molecule studies have demonstrated that protein and mRNA expression of syntaxin and other genes involved in synaptic function are altered in the cerebral cortex of patients with schizophrenia. METHODS: Genetic association between polymorphic markers in the syntaxin 1A gene and schizophrenia was assessed in a matched case-control sample of 192 pairs, and in an independent sample of 238 nuclear families. RESULTS: In the family-based sample, a significant genetic association was found between schizophrenia and one of the four single nucleotide polymorphisms (SNPs) tested: an intron 7 SNP (transmission disequilibrium test [TDT] chi(2) = 5.898; df = 1; p =.015, family-based association test [FBAT] z = 2.280, p =.023). When the results for the TDT and case-control analyses were combined, the association was stronger (n = 430; z(c) = 2.859; p =.004). Haplotype analysis supported the association with several significant values that appear to be driven by the intron 7 SNP. CONCLUSIONS: The results should be treated with caution until replicated, but this is the first report of a genetic association between syntaxin 1A and schizophrenia.
Adult↗
Continent urinary reconstruction in rhabdomyosarcoma: a new approach.
PURPOSE: The authors present here 5 cases of continent urinary diversion in rhabdomyosarcoma applying a recently described technique for the Mitrofanoff Principle devised by the authors. METHODS: Two previously irradiated rhabdomyosarcoma patients presenting with residual bladder disease and massive sensitive urinary urgency underwent a transverse colonic reservoir with catheterizable stoma. Two other patients presenting with a Bricker conduit underwent conversion into an ileal reservoir. One patient underwent reconstruction after a cystectomy. RESULTS: All patients were continent and able to perform continent intermittent catheterization. CONCLUSIONS: The technique proved to be feasible for this group of patients. The authors believe that because of its simplicity, it should be an option of continent urinary diversion when the Mitrofanoff Principle is considered.
Adult↗
Re: Use of a colon based tubularized flap for an antegrade continence enema.
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Digestive System Surgical Procedures↗
Etiology of urinary tract infection in scholar children.
OBJECTIVE: To prospectively assess the prevalence of vesicourethral dysfunction in children over 3 years old, comparing it with the occurrence rate for other potential factors that cause urinary infection in this age range. MATERIALS AND METHODS: 36 girls and 9 boys were assessed, with mean age of 6.4 years, ranging from 3 to 13.9 years. These children were prospectively assessed regarding the presence of symptoms of lower urinary tract dysfunction. These data were compared with the retrospective assessment of other potential risk factors for urinary infection. Ultrasonography was performed in 28 children and voiding cystourethrogram was performed in 26 patients. RESULTS: Vesicourethral dysfunction was diagnosed in 39 (87%) of the 45 children with urinary infection. Among these 39 patients, all had voiding urgency, 30 (77%) had urinary incontinence, 12 (31%) pollakiuria and 3 (8%) presented infrequent voiding. Vaginal discharge was evidenced in 8 (22%) girls and phimosis in 2 (22%) boys. Obstipation was diagnosed in 10 (22%) cases. Significant post-voiding residue was detected in 4 (13%) of the 28 cases assessed. Vesicoureteral reflux was evidenced in 5 (19%) of the 26 patients who underwent voiding cystourethrogram. In only 2 (4%) cases there was not an apparent cause for the infection. CONCLUSION: Vesicourethral dysfunction is a major cause of urinary infection in children with ages above 3 years old. In cases where voiding dysfunction in not present, other predisposing factors must be assessed. However, only 4% of the patients did not present an apparent urologic cause for the infection.
Journal Article↗
Cake kidney drained by single ureter.
Cake kidney is a rare congenital anomaly of the urogenital tract, with a few more than 20 cases described in the literature. It can be diagnosed at any age range. Normally, drainage is achieved by 2 ureters, and there are only 5 reports in the literature of cake kidney drained by a single ureter. The authors describe one more case of this rare malformation of the urinary tract.
Humans↗
Simplified upper pole nephrectomy: initial experience.
OBJECTIVE: To assess the results of an upper pole nephrectomy technique on 5 children. MATERIALS AND METHODS: Upper pole nephrectomy was performed on 5 children, including 4 females and 1 male. Age ranged from 3 to 6 years old. The technique was performed without initial dissection of the renal pedicle. The upper pole is incised and removed. Upon its complete dissection, the segment that drains the upper pole is easily identified, clamped and sectioned. RESULTS: Three children with ureterocele and 2 with ectopic ureter underwent this procedure. There was no intra- or postoperative complication with this technique. DSMA scintigraphy showed no decrease in renal function in the remaining kidney following the procedure. CONCLUSION: The polar nephrectomy technique is simple, and has the advantage of not approaching the renal hilum, which makes surgery less laborious and prevents risk of renal damage, hemorrhage and decreased function in the remaining renal portion.
Child↗