APAE - Associação de Pais e Amigos dos Excepcionais

Organização da sociedade civil sem fins lucrativos, que promove a prevenção e a inclusão da pessoa com Deficiência Intelectual produzindo e difundindo conhecimento. Atua em todas as fases da vida, da infância ao processo de envelhecimento. Pioneira em introduzir o Teste do Pezinho no Brasil, a Organização possui o maior laboratório do País especializado na área e credenciado pelo Ministério da Saúde como Serviço de Referência em Triagem Neonatal. Desde 2001, já foram realizados mais de 13 milhões de testes em bebês brasileiros. Ainda como prevenção da Deficiência Intelectual, a Organização promove e apoia pesquisas, produz e difunde conhecimento científico, trabalha pela defesa e garantia de direitos da pessoa com Deficiência Intelectual. Além disso, promove a inclusão social da pessoa com Deficiência Intelectual estimulando o desenvolvimento de habilidades e potencialidades que favoreçam e escolaridade e a vida produtiva laboral, bem como, oferecendo atendimento jurídico aos atendidos e familiares acerca dos direitos e deveres da pessoa com deficiência.

The vascular stem cell niches and their significance in the brain.

AIM: This cytohistopathological study was performed for a better knowledge of phenotypes derived from pluripotent stem cells, as well as for precise location of stem cells within the vascular niche in the brain. METHODS: We used light and transmission electron microscopy to demonstrate the presence of stem cells in the vascular wall of microvessels in the cerebral and cerebellar cortex, pia mater (considered by us a cordocytic-vascular tissue), adventitia of larger cortical arteries and veins, and around vessels. We investigated multiple vascular segments and brain tissue in a variety of clinical cases, such as cerebral tumors, cerebrovascular malformations, thromboses in the carotid system, and direct laceration. RESULTS: Our morphological and ultrastructural observations pointed out many changing phenotypes, as well as cell interrelationships within the vascular niche, both for repair processes when cordocytes cooperate with mesenchymal stem cells, and pathological processes such as atherogenesis, tumorigenesis, and neurotrauma. Our results underlie the important roles of cordocytes in their interrelations with precursor/stem cells in the arterial adventitia. CONCLUSION: The cells derived from pluripotent stem cells along different lineages have had different phenotypes as they derived from hematopoietic stem cells or mesenchymal stem cells, with or without epigenetic disregulations or depending on different microenvironments. Cell interactions, phenotypes, and underlying mechanisms, as well as biological responses to different small molecules or compounds, remain to be determined by future molecular insights within the vascular niche.

Apoptosis, paraptosis, necrosis, and cell regeneration in posttraumatic cerebral arteries.

This study is to understand the nature and functional significance of the activated cell death programs and rehabilitation signs during late vascular changes after brain injury. We used light and transmission electron microscopy to describe changes of cells within the vascular endothelium and tunica media of the cortical arteries four weeks after craniocerebral traumatism. Within tunica media of the posttraumatic damaged artery, apoptotic and paraptotic phenotypes were identified as well as some early ultrastructural signs of smooth muscle cells regeneration, these cell highlighting a remarkable degree of plasticity. Surprisingly, some endothelial cells showed an extensive rough endoplasmic reticulum development, whereas other endothelial cells showed typical necrosis. In conclusion, two groups of suicidal cells apoptotic and paraptotic cells were encountered in the same lesional vascular wall after neurotrauma, showing also signs of cell regeneration. The pathophysiologic significance of the coexisting double cell death programs and cell regeneration seems to be in relation with late cell survival, after arterial damage when some cells disappear and other cells try to survive undergoing reversible injury.

Megauréter obstructivo primario. Tratamiento endoscópico con balón de dilatación: nuestros primeros resultados / Primary obstructive megaureter. Endoscopic treatment with balloon dilatation: our first results

Tras los grandes avances endourológicos producidos en los últimos años, ha surgido una alternativa mínimamente invasiva a la cirugía abierta en el tratamiento del megauréter obstructivo primario (MOP). Presentamos nuestra experiencia con la dilatación endoscópica de la estenosis uretero vesical durante los 4 últimos años. Material y métodos: Entre los años 2005 y 2009 se han tratado en nuestro servicio mediante esta técnica un total de 10 pacientes. Todos ellos cumplían los criterios diagnósticos de MOP sin reflujo asociado. El procedimiento consistió en la realización de cistoscopia, comprobación de la estenosis y dilatación endoscópica de ésta con balón. Se deja introducido un tutor ureteral doble J, que se retirará en el primer mes post operatorio. El seguimiento posterior se lleva a cabo mediante una ecografía y una cistografía al cabo de 1 mes, un renograma a los 3 y 9 meses, y ecografías posteriores de manera seriada. Resultados: El 60% de nuestros casos corresponden a niños y el 40% a niñas. La localización izquierda del MOP representa el 60% de los casos. En el 70% de los pacientes el diagnóstico se realizó bajo una sospecha prenatal, en el 30% se halló tras una infección del tracto urinario (ITU). La media de edad durante la intervención quirúrgica fue de 14,4 meses. El tiempo de seguimiento evolutivo fue de 29 meses. Todos los pacientes mejoraron su patrón obstructivo. Como complicaciones, un paciente precisó un cambio de doble J a las 12 horas por encontrarse éste en la vejiga, y dos pacientes presentaron una ITU durante el postoperatorio. Conclusiones: El manejo endoscópico del MOP sin reflujo vesicoureteral asociado es un nuevo planteamiento terapéutico que evita una cirugía agresiva en el niño para realizar la reimplantación ureteral. Se trata de una técnica factible y efectiva, que precisará estudios a más largo plazo para demostrar su eficacia (AU)

Introduction: With the great advances in the urological endoscopic surgery in the last years, a new minimal invasive alternative to open surgery in the treatment of primary obstructive megaureter has been used. We present the results of our experience in the endoscopic dilatation of the uretro vesiclestenosis during the last 4 years. Material and method: Between the years 2005 to 2009 we present a total of ten have been treated through this technique. All of them complied with the criteria of the POM without associated reflux. In all cases the procedure consisted in a cytoscopy and the verification of stenosis and endoscopic dilatation of the same with a balloon. A double-J catheter was positioned and then withdrawn 1 month after the procedure. As a followup, an ultrasound monitoring is done as well as a cystographya month after, a renography at 3 and 9 months and posterior ultrasound monitoring in a serial manner. Results: 60% of our patients were boys and 40% were girls. In 60% of them the primary obstructive megaureter was on the left side. 70% of the patients were diagnosed due to a prenatal suspicion and 30% after an ITU. The mean intervention age was of 14.4 months. The mean follow-up was of 29 months. All the patients improved their obstructive curves. As complications: one patient required the removal of the double-J catheter, 12 hours after, because it was located in the bladder, and two patients showed a ITU during the post operatory. Conclusions: The endoscopic management of primary obstructive megaureter without uretro vesicle reflux is a new therapeutic approach which avoids an aggressive surgery in a child to do a urethral reimplantation. It is a feasible and effective technique which will need studies to a long term to be able to demonstrate its effectiveness (AU)

Papel de los alfa-antagonistas en el síndrome de micción no coordinada en la infancia / Role of alpha antagonists in uncoordinated micturition syndrome in childhood

Introducción. El síndrome de micción no coordinada se caracteriza por un cuadro de disfunción de vaciado vesical debido a la contracción activa del esfínter externo durante el vaciado. Su diagnóstico se basa en los resultados flujoméricos y electromiográficos y el tratamiento está enfocado a mejorar la relajación del esfínter durante la micción, siendo el biofeedback el tratamiento de elección. Dado que aún existen centros sin esta posibilidad, la alternativa son los alfa-bloqueantes, sin mucha literatura al respecto. Objetivo. Determinar la eficacia de los alfa-bloqueantes como tratamiento alternativo al biofeedback en ausencia de este como posibilidad terapéutica. Material y métodos. Presentamos un total de 17 casos de síndrome de Hinman que se encuentran en seguimiento en la consulta de urología pediátrica. Realizamos un estudio retrospectivo. Valoramos la edad y sintomatología al diagnóstico, la presencia de patología urológica asociada, los resultados flujométricos pre y posttratamiento, el tipo (..) (AU)

Introduction. Dysfunctional voiding syndrome in children is characterized by a pattern of dysfunctional bladder emptying due to an active contraction of the external sphincter during micturition. Diagnosis is based on electromyographic and flow metry results. The treatment is focused on relaxing the external sphincter during micturition where biofeedback is the treatment of choice. By the moment there are still centres without this possibility, alpha blockers are an alternative. Objective: To determine the efficacy of alpha blockers as an alternative to biofeedback as a therapeutic possibility. Material and methods: We included a total of 17 children with dysfunctional voiding syndrome and carried out a retrospective study. We registered age, symptoms at diagnosis, presence of associated urologic problems, flow metry results pre and post-treatment, type of treatment used and its effectiveness comparing patients treated with alpha blockers and those who are starting to deal with biofeedback. Results. There were 12 girls and 5 boys. The mean age at diagnosis (..) (AU)

[Quality of life in children operated on for anal atresia]. / Calidad de vida en los pacientes intervenidos de atresia de ano.

INTRODUCTION: Most children with anorectal malformations have some type of intestinal dysfunction. A correct follow up in this aspect after surgery affects their quality of life. MATERIAL AND METHODS: We gathered a sample of 20 children that were lost in their follow up after posterior sagittal anorectoplasty (PSARP). We got contact with them and they were interviewed and examined in our department. RESULTS: We collected 12 girls and 8 boys. Age range was between 3 and 14 years. 70% had good prognosis for continence (low fistula) and 30% poor prognosis (high fistula). 35% suffered from postoperative complications being the most frequent prolapse especially in high atresias. 85% had good rectal sensitivity, 15% had poor sensitivity that was directly related to incontinence. Anal tone was decreased in our exploration in 35% of patients which was not directly related to their continence. 65% suffered constipation with or without fecaloma. 5% of cases had intestinal hipermotility. The total incidence of fecal loose was 40%. More than a half (62,5%) kept on loosing stool despite treating their constipation or hipermotility, so we consider them true incontinents (no voluntary bowel movements). 67% of children with high fistula were true incontinents, just 7% of those with low fistula. Subjective quality of life in patients with soling was 6.4. In clean patients it was 9.3. Objective quality of life (Score/13) in dirty patients was 6.6. In Clean patients: 11.9. After our bowel management protocol we got 100% of patients clean during school time, thereby improving their quality of life. CONCLUSIONS: Incontinence determines the long-term quality of life in our patients in addition to the psycho-social consequences. They are clearly more frequent in patients with high fistula. Much assume incontinence as an unavoidable part of their disease so do not always demand treatment if they are not followed by a surgeon.

Sickle cell disease: selected aspects of pathophysiology.

Sickle cell disease (SCD), a genetically-determined pathology due to an amino acid substitution (i.e., valine for glutamic acid) on the beta-chain of hemoglobin, is characterized by abnormal blood rheology and periods of painful vascular occlusive crises. Sickle cell trait (SCT) is a typically benign variant in which only one beta chain is affected by the mutation. Although both SCD and SCT have been the subject of numerous studies, information related to neurological function and transfusion therapy is still incomplete: an overview of these areas is presented. An initial section provides pertinent background information on the pathology and clinical significance of these diseases. The roles of three factors in the clinical manifestations of the diseases are then discussed: hypoxia, autonomic nervous system regulation and blood rheology. The possibility of a causal relationship between these three factors and sudden death is also examined. It is concluded that further studies in these specific areas are warranted. It is anticipated that the outcome of such research is likely to provide valuable insights into the pathophysiology of SCD and SCT and will lead to improved clinical management and enhanced quality of life.

Calidad de vida en los pacientes intervenidos de atresia de ano / Quality of life in children operated on for anal atresia

Introducción. El utrículo prostático consiste en una regresión incompleta de las estructuras Müllerianas. Puede presentar varios signos y síntomas, como incontinencia e infecciones del tracto urinario. Presentamos nuestra experiencia personal en la extirpación laparoscópica de lutrículo prostático en pacientes con sintomatología de ITU e incontinencia. Material y Métodos. La cirugía consiste en una cistouretroscopia y canalización del utrículo con colocación de sonda de Fogarty nº4 o del cistoscopio en el interior, si este atraviesa el orificio. Esta maniobra ayuda a la localización. La laparoscopia se lleva a cabo con un trocar de 10 mm y dos de 5 mm. Gracias a la tras iluminación, la localización es más sencilla. La resección se realiza con electrocoagulación y extirpación tras puntos transfixivos. Resultados. Se operaron cinco varones con una media de edad de7 (2-11) años. En todos la laparoscopia fue satisfactoria excepto en uno, que necesitó la reconversión a cirugía abierta. La media de duración fue de 110 (90-210) min. Conclusión. La exéresis laparoscópica del utrículo prostático es una vía segura y sencilla de tratamiento. La iluminación directa con el cistoscopio ayuda a la visualización y disección del mismo (AU)

Introduction. The prostatic utricle is an embryological remnantfrom Müllerian duct tissue. Most prostatic utricles are asympomatic, but they may manifest as a urinary tract infection or an incontinence. Material and method. Surgery consists in a cysto-urethroscopy and cannulation of the prostatic utricle with a ureteral catheter (Fogarty ner 4) and the cystoscopy left in situ to facilitate identification and mobilization. A 10 mm port through a umbilical incision and two more5 mm working ports were inserted. After mobilization, the ureteral defect was closed by an absorbable suture and ultrasonic coagulation. Results. Five boys with symptomatic prostatic utricles underwent surgery at a mean (range) age of 7 (2-11) years. The laparoscopic escisión was successful in all but one due to a bleeding. The mean (range) operative duration was 165 (120-240) min. Conclusion. Laparoscopic escision under cystoscopic guidance offers a good surgical view and allowing easy dissection (AU)

[Role of alpha antagonists in uncoordinated micturition syndrome in childhood]. / Papel de los alfa-antagonistas en el síndrome de micción no coordinada en la infancia.

INTRODUCTION: Dysfunctional voiding syndrome in children is characterized by a pattern of dysfunctional bladder emptying due to an active contraction of the external sphincter during micturition. Diagnosis is based on electromyographic and flowmetry results. The treatment is focused on relaxing the external sphincter during micturition where biofeedback is the treatment of choice. By the moment there are still centres without this possibility, alpha blockers are an alternative. OBJECTIVE: To determine the efficacy of alpha blockers as an alternative to biofeedback as a therapeutic possibility. MATERIAL AND METHODS: We included a total of 17 children with dysfunctional voiding syndrome and carried out a retrospective study. We registered age, symptoms at diagnosis, presence of associated urologic problems, flowmetry results pre and post-treatment, type of treatment used and its effectiveness comparing patients treated with alpha blockers and those who are starting to deal with biofeedback. RESULTS: There were 12 girls and 5 boys. The mean age at diagnosis was 4.9 years old, 88% of these children related enuresis, diurnal urinary incontinence and urgency, 57% of them had also urinary infections, 63% constipation, 36% had psychosocial problems. Ten patients were treated with alpha-antagonists: 6 with Tamsulosin and 4 with Doxazosin. They followed this treatment an average of 5.8 months, range between 2 and 12 months. Five patients were treated with biofeedback. All cases had an abnormal pelvic electromyography. Patients treated with alpha-blockers achieved a 70% of electromyographic improvement with a 70% of recurrence. In children treated with biofeedback we got improvement in 80% with no recurrence. After alpha blocker therapy, maximum flow rates and average flow values were better but not statistically significant, this difference was significant with biofeedback. A patient treated with Tamsulosin left treatment due to hypotension, 2 patients left Doxazosin because of dizziness. CONCLUSIONS: Alpha-blockers are effective in the treatment of dysfunctional voiding syndrome with a high percentage of recurrence. They can be an alternative to biofeedback but this one is the effective and definitive treatment.

[Correction of lop ear using minimally invasive approach]. / Corrección de las orejas procidentes mediante un abordaje mínimamente invasivo.

INTRODUCTION: Helix valgus or procident ears is a common problem that affects about 5% of the population. The folds of the antehelix and the overdevelopment of the concha are the most commonly found anatomic alterations of the ear pavilion. In children this pathology usually causes anxiety and an emotional trauma that may interfere in their normal development. MATERIALS AND METHODS: There are a few tipes of techniques to correct helix valgus. We present the application of the technique in our service. We conduct the otoplastia with an outer puntiform technique which allows us to cut the cartilage partially from the outside. Next we fold from the rear the antehelix and hide the concha. RESULTS: We analysed 7 years of the application of this technique and we now present 87 otoplastias conducted to 44 children. The 97% of them were bilateral. No precocious complications have been observed after the surgery. All cases except for one of them have been bilateral. All the patients were satisfied with the aesthetic results. None of them showed relapse. In one case there was a hypertrophic scar that required cutting and in 2 of the cases there was a slight hypercorrection. CONCLUSIONS: Procident ears may occasion a psychological trauma in children. We believe that this technique, which is minimally invasive, provides very satisfactory aesthetic results, the puntiform scar being hardly noticed fifteen days before surgery. The patients need to stay in hospital for a short period, 24-48 hours, and complications are very rare, recidiva has not been described. We strongly recommend this technique for the correction of procident ears.

[Non-palpable testes: laparoscopic or inguinal approach?]. / Testes no palpables: abordaje laparoscópico o inguinal?

INTRODUCTION: Twenty per cent of the operated patients suffering from cryptorchidisim show no palpable testis in the physical check-up. The use of a non-palpable testis in the initial stages is considered to be controversial when deciding between a laparascopic or an inguinal approach. Our aim is to compare the results obtained with these two approaches and evaluate which one of them would be the most relevant as an initial option. MATERIALS AND METHODS: We examined the patients who have been subjected to surgical intervention for non-palpable testis in the last three years. We had a sample of 53 patients. Bilateral non-palpable testes were disregarded. In the case of 35 patients the initial approach was through the groins while in 18 of them the approach was laparascopic. Relevant data were recorded, such as the age of the patient, right or left side, surgical findings, need for a laparascopic or groin approach and associated hernia. RESULTS: The average age of the patients at the time of the surgical treatment was 3.7 years R (1-13 years). 42% of the testes were on the right side and 58% on the left. In an initial stage the inguinal approach was used with 35 patients, 2 of these requiring laparascopic exploration due to a non-concluding check-up; it was concluded that they were 2 cases of anorchia. An initial laparoscopic approach was used with 18 patients. Internal vessels in the canal were found which required an inguinal approach. In 12 patients normal or atrophic testes were observed. Testicular descent was achieved through the groin in 10 of them while in the remaining 2 a combined approach was adopted. CONCLUSIONS: 80% of the patients subjected to a first laparoscopic approach needed a groin approach later on. 11% of the patients subjected to a first inguinal approach required laparascopic examination. In view of the results obtained, we conclude that inguinal exploration diminishes the need for second procedures.

[Therapeutic approach of enuresis based on the differentiation of the enuretic syndrome and monosymptomatic enuresis]. / Enfoque terapéutico de la enuresis basándose en la diferenciación del síndrome enurético y la enuresis monosintomática.

INTRODUCTION: Enuresis affects 15% of the children under 5. Possible etiopatogeny explaining the mechanism of production of nocturnal enuresis has been described, resulting in different terapeutical approaches; however, we cannot speak up to now of general guidelines for its treatment. MATERIALS AND METHODS: On the basis of 544 children who were treated in our hospital in the last 12 years, we analysed a sample of 124 patients corresponding to the last two years. We now present the therapeutical protocol used and analyse the results. In the initial therapeutical approach a distinction is made between monosymptomatic enuresis and eneuretic syndrome. RESULTS: We studied a total of 120 patients (89 boys and 31 girls). 63% of them showed monosymptomatic enuresis while 37% suffered from enuretic syndrome. In the case of 15% of them, this was associated with heavy sleep and difficulties to wake up. 92% was the general percentage of recovery. In the patients suffering from nonosymptomatic eneuresis, the problem was solved with desmopressin in 87% of them (demospressin on its own in 65% or in combination with oxibutine in the remaining 35%). In the group of enereutic symdrome, the problem was solved with oxibutine in 71% (on its own in 40% or in combination with desmopressin in 54%. CONCLUSIONS: The treatment and solution of enuresis improve the child's self-esteem and the anxiety caused in the family. A good medical history with a clear distinction between enuretic syndrome and monosyntomatic enuresis leads us to a suitable therapeutical approach for every patient, allowing us to find earlier the right treatment for every individual.

Corrección de las orejas procidentes mediante un abordaje mínimamente invasivo / Correction of lop ear using minimally invasive approach

Introducción. El hélix valgus u orejas procidentes es un problema común que afecta a un 5% de la población. Las alteraciones anatómicas del pabellón que más frecuentemente se encuentran son el defecto en el desarrollo de los pliegues de antehélix y el sobre desarrollo dela concha. Esta patología en los niños suele causar ansiedad y un trauma emocional que puede interferir en su desarrollo. Material y métodos. Existen múltiples técnicas descritas para la corrección del hélix valgus. Describimos la técnica realizada en nuestro servicio durante los últimos siete años analizando los resultados. Realizamos la otoplastia mediante un abordaje anterior puntiforme que nos permite realizar de una manera poco agresiva varios cortes parciales del cartílago por vía anterior. Por vía posterior realizamos la (..) (AU)

Introduction. Helix valgus or procident ears is a common problem that affects about 5% of the population. The folds of the antehelix and the overdevelopment of the concha are the most commonly found anatomic alterations of the ear pavilion. In children this pathology usually causes anxiety and an emotional trauma that may interfere in their normal development. Materials and methods. There are a few tipes of techniques to correct helix valgus. We present the application of the technique in our (..) (AU)

Lentiviral vectors with amplified beta cell-specific gene expression.

An important goal of gene therapy is to be able to deliver genes, so that they express in a pattern that recapitulates the expression of an endogenous cellular gene. Although tissue-specific promoters confer selectivity, in a vector-based system, their activity may be too weak to mediate detectable levels in gene-expression studies. We have used a two-step transcriptional amplification system to amplify gene expression from lentiviral vectors using the human insulin promoter. In this system, the human insulin promoter drives expression of a potent synthetic transcription activator (the yeast GAL4 DNA-binding domain fused to the activation domain of the Herpes simplex virus-1 VP16 activator), which in turn activates a GAL4-responsive promoter, driving the enhanced green fluorescent protein reporter gene. Vectors carrying the human insulin promoter did not express in non-beta-cell lines, but expressed in murine insulinoma cell lines, indicating that the human insulin promoter was capable of conferring cell specificity of expression. The insulin-amplifiable vector was able to amplify gene expression five to nine times over a standard insulin-promoter vector. In primary human islets, gene expression from the insulin-promoted vectors was coincident with insulin staining. These vectors will be useful in gene-expression studies that require a detectable signal and tissue specificity.

Testes no palpables: ¿abordaje laparoscópico o inguinal? / Non-Palpable testes: Laparoscopic or inguinal approach?

Introducción: El 20% de los pacientes intervenidos por criptorquidia presentan teste no palpable en la exploración física. El manejo inicial de estos pacientes sigue siendo controvertido. Nuestro objetivo es comparar el abordaje inguinal y el laparoscópico y valorar cuál de ellos es el más resolutivo como opción inicial. Material y métodos: Revisamos los pacientes intervenidos por teste no palpable unilateral en los últimos tres años en nuestro servicio. Tras descartar los testes no palpables bilaterales entramos en el estudio53 pacientes. En 35 el abordaje inicial realizado fue por vía inguinal y en 18 laparoscópico. Los datos recogidos para el estudio son la edad del paciente en el momento de la intervención, lado del teste no palpable, hallazgos quirúrgicos, necesidad de abordaje combinado laparoscópico o inguinaly presencia o no de hernia asociada. Resultados: La edad media de los pacientes en el momento de la intervención quirúrgica fue de 3,7 años (R: 1-13 años). El 42% de los testes no palpables correspondían al lado derecho y el 58% al izquierdo. El 65 % de los pacientes se abordaron inicialmente por vía inquinal. En tan sólo el 11% debido a una exploración no concluyente se necesitó realizar una exploración laparoscópica que concluyó en todos los casos anorquia. En el 33% el abordaje inicial fue laparoscópico. En (..) (AU)

Introduction: Twenty per cent of the operated patients suffering from cryptorchidisim show no palpable testis in the physical check-up. The use of a non-palpable testis in the initial stages is considered to be controversial when deciding between a laparascopic or an inguinal approach. Our aim is to compare the results obtained with these two approaches and evaluate which one of them would be the most relevant as an initial option. Materials and methods: We examined the patients who have been subjected to surgical intervention for non-palpable testis in the last three years. We had a sample of 53 patients. Bilateral non-palpable testes were disregarded. In the case of 35patients the initial approach was through the groins while in 18 of them the approach was laparascopic. Relevant data were recorded, such as the age of the patient, right or left side, surgical findings, need for alaparascopic or groin approach and associated hernia. Results: The average age of the patients at the time of the surgical treatment was 3.7 years R ( 1-13 years). 42% of the testes were on the right side and 58% on the left. In an initial stage the inguinal approach was used with 35 patients, 2 of these requiring laparascopic exploration due to a non-concluding check-up; it was concluded that they were 2 cases of anorchia. An initial laparoscopic approach (..) (AU)

Associação Gaúcha de Pais e Amigos dos Surdocegos e Multideficientes - AGAPASM

Traz dados sobre a associação - equipe, objetivos, história, trabalhos e projetos - e informações sobre a temática da deficiência, incluindo artigos, fotos, notícias, legislação, livros recomendados, matérias, campanhas e sites relacionados.

[Prognostic value of the ultrasound and diuretic renogram in the evolution of ureteropelvic junction obstruction]. / Valor pronóstico de la ecografía y el renograma diurético en la evolución de la estenosis pieloureteral.

INTRODUCTION: The congenital obstruction of the pieloureteral junction (UPJ) is the most frequent cause of hydronephrosis in children. Sometimes, establishing the convenience of a surgical procedure is difficult, mainly if we consider the literature published on the spontaneous resolution of the slight, moderate and even severe hydronephrosis in newborns. OBJECTIVE: To determine the prognostic value of ultrasound in the evolution of the unilateral hydronephrosis, by assesing the size of the contralateral kidney. To verify if the "supranormal" renal function (SRF) is real or an artefact. PATIENTS AND METHODS: We have performed a descriptive observational study over a 10 years period (1995-2005). The study included all patients with the only diagnosis of obstructive unilateral hydronephrosis that underwent pieloplasty, and were controlled for 1 year period after the surgical treatment. RESULTS: Of the 66 patients in the study, 42 were boys (63.6%) and 24 girls (36.4%). After the first diuretic renogram (DR), in 57 of the patients (86.4%) the clearance half-time (T1/2) was over 20 minutes, in 6 cases (9.1%) it was 10-20 minutes and only in 3 cases it was shorter than 10 minutes. A similar differential renal function (FRD) was observed in the moderate and severe hydronephrosis. Supranormal function (FRD > 52%) was detected on DR in 11 patients, predominating in left hidronefrosis, and in more than 50% of the cases this value it did not agree with the renal function measured by dimercapto-succinic acid (DMSA), Pearson's correlation coefficient: 0.19. These kidneys experienced a greater reduction of the postoperative renal function. CONCLUSIONS: In the unilateral obstructive hydronephrosis, the healthy contralateral kidney experiences hypertrophy detectable by ultrasound, but these ecographic diameters are within the band of individual confidence of the healthy children of reference. The supranormal function exists, but in most cases it is an artefact.

Valor pronóstico de la ecografía y el renograma diurético en la evolución de la estenosis pieloureteral / Prognostic value of the ultrasound and diuretic renogram in the evolution of ureteropelvic junction obstruction

Introducción. La obstrucción congénita de la unión pieloureteral(EPU) es la causa más frecuente de hidronefrosis en el niño. A veces, establecer la indicación quirúrgica es difícil, sobre todo si tenemos en cuenta la literatura publicada sobre la resolución espontánea de la hidronefrosis leve, moderada e incluso grave en el periodo neonatal. Objetivo. Determinar el valor pronóstico de la ecografía en la evolución de la hidronefrosis unilateral, monitorizando el tamaño del riñón contralateral. Comprobar si la función renal “supranormal” (FRS) es real o un artefacto. Pacientes y métodos. Realizamos un estudio observacional descriptivo que abarca 10 años (1995-2005). Se han considerado a efectos del estudio a todos los pacientes pediátricos con diagnóstico de hidronefrosis obstructiva que fueron sometidos a una pieloplastia, y controlados durante un período mínimo de 1 año tras el tratamiento quirúrgico. Resultados. De los 66 pacientes revisados 42 eran niños (63,6%)y 24 niñas (36,4%). Tras el primer renograma diurético (RD), en 57pacientes (86,4%) el tiempo medio de eliminación (T1/2) estaba por encima de los 20 minutos, en 6 casos (9,1%) estaba entre 10-20 minutos y sólo en 3 casos era menor de 10 minutos. Se observó una función renal diferencial (FRD) similar en las hidronefrosis moderadas y graves. En 11 pacientes encontramos una FRS (FRD>52%) renográfica, predominando en las hidronefrosis izquierdas, y en más del 50% de los casos este valor no coincidía con la FRD gammagráfica con ácido dimercaptosuccínico (DMSA), coeficiente de correlación de Pearson: 0,19. Estos riñones con FRS preoperatoria experimentaron un mayor descenso de la función renal postoperatoria. Conclusiones. En las hidronefrosis obstructivas el riñón contralateral sano experimenta una hipertrofia apreciable en la ecografía, pero estos diámetros ecográficos están dentro de la banda de confianza individual de la población sana de referencia. La función supranormal existe, pero en la mayoría de los casos es un artefacto (AU)

Introduction. The congenital obstruction of the pieloureteral junction(UPJ) is the most frequent cause of hydronephrosis in children. Sometimes, establishing the convenience of a surgical procedure is difficult, mainly if we consider the literature published on the spontaneous resolution of the slight, moderate and even severe hydronephrosis in newborns. Objective. To determine the prognostic value of ultrasound in the evolution of the unilateral hydronephrosis, by assessing the size of the contralateral kidney. To verify if the “supranormal” renal function(SRF) is a real or an artefact. Patients and methods. We have performed a descriptive observational study over a 10 years period (1995-2005). The study included all patients with the only diagnosis of obstructive unilateral hydronephrosis that underwent pieloplasty, and were controlled for 1 year period after the surgical treatment. Results. Of the 66 patients in the study, 42 were boys (63.6%) and24 girls (36.4%). After the first diuretic renogram (DR), in 57 of the patients (86.4%) the clearance half-time (T1/2) was over 20 minutes, in6 cases (9.1%) it was 10-20 minutes and only in 3 cases it was shorter than 10 minutes. A similar differential renal function (FRD) was observed in the moderate and severe hydronephrosis. Supranormal function (FRD>52%)was detected on DR in 11 patients, predominating in left hidronefrosis, and in more than 50% of the cases this value it did not agree with the renal function measured by dimercapto-succinic acid (DMSA), Pearson’s correlation coefficient: 0.19. These kidneys experienced a greater reduction of the postoperative renal function. Conclusions. In the unilateral obstructive hydronephrosis, the healthy contralateral kidney experiences hypertrophy detectable by ultrasound, but these ecographic diameters are within the band of individual confidence of the healthy children of reference. The supranormal function exists, but in most cases it is an artefact (AU)

[New concepts in the natural history of multicystic dysplastic kidney]. / Nuevos conceptos en la historia natural de la displasia renal multiquística.

OBJECTIVE: Retroperitoneoscopy has shown that US involution is not synonymous with complete regression of the dysplastic renal parenchyma in US-involuted multicystic dysplastic kidney (MCDK). The objective is to analyze the meaning of this results. PATIENTS AND METHODS: 16 patients (nine girls and seven boys) with unilateral MCDK that showed complete involution on ultrasonography, underwent prospectively a retroperitoneoscopic approach. US showed complete cysts involution at the mean age of 10 months (ranging from five to 22 months). All patients underwent a retroperitoneoscopic approach after US involution of the MCDK. The mean age of retroperitoneoscopy was 36 months (ranging from eight to 56 months). RESULTS: The retroperitoneoscopic approach revealed persistence of dysplastic renal tissue in 100% of the patients. The mean lenght of the renal renmant was 2 cm (ranging from 1 and 3.5 cm). All patients had a mean length of stay of less than 24 hours. Anatomo-pathological study of the samples showed a wide spectrum of dysplastic renal tissue and the absence of preneoplastic cells. CONCLUSIONS: Ultrasonography is our method of choice to follow up MCDK until cyst involution takes place. The presence of a dysplastic renal remnant which is not visible on US, requires an appropriate long-term follow up to screen for the growth of tumors. In our experience, retroperitoneoscopy allows the diagnosis and treatment of the displastic renal renmant in the same minimally invasive ambulatory procedure, avoiding long-term development of tumors. Overall, it is our responsibility to sufficiently inform to the family about the persistence of dysplastic renal remnant to facilitate their decision about the best treatment for their child.

Fatores de risco de maior ocorrência de episódios diarréicos durante o primeiro ano de vida / Risk factors of higher occurrence of diarrheal episodes in the first year of life

Introdução: A doença diarréica constitui problema de saúde relevante no mundo, sobretudo em países em desenvolvimento. Este estudo caso-controle aninhado em uma coorte objetivou identificar fatores determinantes para a ocorrência de maior número de episódios diarréicos durante o primeiro ano de vida. Metodologia: recém-nascidos foram recrutados para a coorte nas primeiras 24 horas de vida e visitados no domicílio duas vezes por semana no primeiro ano de vida para averiguar aleitamento materno e episódios diarréicos. Considerou-se caso a criança com seis ou mais controles e aquela com até cinco episódios de diarréia no primeiro ano de vida (N=87e 515, respectivamente). Empregou-se análise de regressão logística visando eliminar fatores de confundimento. Resultados: escolaridade materna e peso ao nascer explicaram o alto número de episódios de diarréia no primeiro ano de vida. As crianças cujas mães tinham até quatro anos de estudo formal tiveram chance duas vezes mais (1C 95%=1,13-3,27) de apresentar seis ou mais episódios de diarréia em relação às de mães que estudaram cinco ou mais anos (p=0,02). A chance de seis ou mais episódios de diarréia foi duas vezes maior para as crianças com peso ao nascer abaixo de 2.500 g (IC 95%=1,20-5,70; p=0,02) em relação às com 3.500 g ou mais. Conclusão: conclui-se que o baixo peso ao nascer e a escolaridade materna são fatores importantes na morbidade por diarréia no primeiro ano de vida.