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1.
Vet J ; 273: 105683, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34148605

RESUMO

Late-term foal loss due to the traditional avian pathogen Chlamydia psittaci recently emerged as a threat to the Australian Thoroughbred industry. A longitudinal study of 14 stud farms was undertaken to better understand C. psittaci infection in pregnant mares and their foals by evaluating C. psittaci prevalence, equine herpesvirus-1 (EHV-1) co-infection, avian reservoirs, and potential risk factors. Mucosal swabs taken from 228 healthy pregnant mares and their foals were tested for C. psittaci and EHV-1 using species-specific qPCR assays. No foal loss was recorded due to either pathogen, and no mare tested positive to either C. psittaci or EHV-1. However, healthy newborn foals tested positive to both pathogens, at low levels, with 13.2% (n = 30/228) and 14.5% (n = 33/228) prevalence for C. psittaci and EHV-1, respectively. Co-infection occurred in 1.3% (n = 3/228) of foals. In avian environmental faecal samples collected from the same studs, C. psittaci was detected at 5.3% (n = 5/94). Multiple logistic regression modelling found that foals born in winter were more likely to be infected with C. psittaci (adjusted odds ratio = 15.83; P < 0.001; Confidence Interval 5.12-48.49). Being a maiden mare, absence of prophylactic vaginal suture, interventions in the last trimester and residing on a farm with prior history of C. psittaci abortion posed no higher risk to infection in the newborn. Analysis of all reported C. psittaci abortion cases (Hunter Valley, 2016-2019) revealed a dominant C. psittaci sequence type (denoted ST24) and a significant correlation with frost events (Spearmans' rho = 0.44; P = 0.002).


Assuntos
Animais Recém-Nascidos/microbiologia , Chlamydophila psittaci/isolamento & purificação , Doenças dos Cavalos/epidemiologia , Psitacose/veterinária , Aborto Animal/epidemiologia , Aborto Animal/microbiologia , Animais , Austrália/epidemiologia , Aves , Fezes/microbiologia , Feminino , Infecções por Herpesviridae/veterinária , Herpesvirus Equídeo 1/isolamento & purificação , Doenças dos Cavalos/microbiologia , Cavalos , Masculino , Gravidez , Psitacose/epidemiologia , Estações do Ano
2.
An. pediatr. (2003, Ed. impr.) ; 78(2): 104-108, feb. 2013. tab
Artigo em Espanhol | IBECS | ID: ibc-109440

RESUMO

Introducción: El marcador aceptado en la diabetes mellitus tipo 1, para identificar precozmente a los pacientes de alto riesgo para desarrollar una nefropatía diabética, es la detección de microalbuminuria persistente. La monitorización ambulatoria de la presión arterial (MAPA) valora las presiones arteriales de los períodos de vigilia y de sueño y mide sus variaciones circadianas. Objetivo: Mostrar las características de la función renal y los datos proporcionados por la MAPA en una cohorte de niños diabéticos dependientes de insulina derivados al hospital. Material y métodos: Se estudiaron 61 pacientes con edades comprendidas entre 6 y 17 años. A cada niño se le programó la monitorización de la presión arterial, se estimó la tasa de filtración glomerular en orina de 24 h y se realizó determinación de hemoglobina glucosilada (HbA1c), colesterol, triglicéridos, colesterol unido a las lipoproteínas de alta densidad (c-HDL) y colesterol unido a las lipoproteínas de baja densidad (LDL). Resultados: Ningún caso presentaba una microalbuminuria persistente. La función renal muestra aumento de la tasa de filtración glomerular (146,6±22ml/min/1,73 m2). En el 39% de los casos no se produjo descenso nocturno de la presión arterial sistólica (PAS), mientras que la diastólica (PAD) encontró pérdida del descenso en el 11% de la serie. Se analizaron los casos en función de la disminución o no del descenso nocturno fisiológico de la presión arterial (PA), tanto sistólica como diastólica: no había variaciones significativas entre los datos antropométricos, los valores de la hemoglobina glicosilada (HbA1c), colesterol total, triglicéridos, c-HDL, c-LDL, tasa de filtración glomerular (GFR), proteinuria y microalbuminuria en ambos grupos. Conclusión: En la diabetes mellitus tipo 1, la atenuación del descenso nocturno fisiológico de la PAS es un hallazgo frecuente. Destaca también el aumento de la tasa de filtración glomerular(AU)


Introduction: Persistent microalbuminuria is the accepted marker for early detection of a high risk of developing diabetic nephropathy in patients diagnosed with Type I Diabetes mellitus. The Ambulatory Blood Pressure Monitoring (ABPM) evaluates the circadian variations of blood pressure while awake and asleep. Objective: To show the renal function characteristics and the data provided by ABPM in a cohort of insulin dependent diabetic children referred to our hospital. Material and methods: A total of 61 patients with an age range between 6 and 17 years were studied. In each child blood pressure monitoring was arranged, the glomerular filtration rate in 24hour urine was estimated, and glycosylated haemoglobin (HbA1c), total cholesterol, triglycerides, HDL cholesterol, LDL cholesterol, was measured. Results: None of the cases showed persistent microalbuminuria. The renal function showed an increase in the glomerular filtration rate (146.6 ± 22ml/minute/1.73 m2). In 39% of the cases there was no drop in systolic blood pressure during the night, whereas 11% of the patients in our series had a decrease in diastolic pressure. The cases were analysed depending on whether or not there had been a physiological arterial or diastolic pressure drop during the night: there were no significant differences in anthropometric data, glycosylated haemoglobin (HbA1c) levels, total cholesterol, triglycerides, HDL cholesterol, LDL cholesterol, glomerular filtration rate (GFR), proteinuria and microalbuminuria between both groups. Conclusion: In Type I Diabetes Mellitus a decrease in the physiological blood pressure during the night is a frequent finding. There is also an increase in the glomerular filtration rate(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Pressão Arterial , Pressão Arterial/fisiologia , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/terapia , Nefropatias Diabéticas/complicações , Nefropatias Diabéticas/fisiopatologia , Nefropatias Diabéticas/terapia , Nefropatias/complicações , Estudos de Coortes , Taxa de Filtração Glomerular/fisiologia , Antropometria/métodos , Estudos Prospectivos , Estudos Transversais/métodos , Estudos Transversais/tendências , Estudos Transversais
3.
An Pediatr (Barc) ; 78(2): 104-8, 2013 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-22819809

RESUMO

INTRODUCTION: Persistent microalbuminuria is the accepted marker for early detection of a high risk of developing diabetic nephropathy in patients diagnosed with Type I Diabetes mellitus. The Ambulatory Blood Pressure Monitoring (ABPM) evaluates the circadian variations of blood pressure while awake and asleep. OBJECTIVE: To show the renal function characteristics and the data provided by ABPM in a cohort of insulin dependent diabetic children referred to our hospital. MATERIAL AND METHODS: A total of 61 patients with an age range between 6 and 17 years were studied. In each child blood pressure monitoring was arranged, the glomerular filtration rate in 24 hour urine was estimated, and glycosylated haemoglobin (HbA1c), total cholesterol, triglycerides, HDL cholesterol, LDL cholesterol, was measured. RESULTS: None of the cases showed persistent microalbuminuria. The renal function showed an increase in the glomerular filtration rate (146.6 ±22 ml/minute/1.73 m(2)). In 39% of the cases there was no drop in systolic blood pressure during the night, whereas 11% of the patients in our series had a decrease in diastolic pressure. The cases were analysed depending on whether or not there had been a physiological arterial or diastolic pressure drop during the night: there were no significant differences in anthropometric data, glycosylated haemoglobin (HbA1c) levels, total cholesterol, triglycerides, HDL cholesterol, LDL cholesterol, glomerular filtration rate (GFR), proteinuria and microalbuminuria between both groups. CONCLUSION: In Type I Diabetes Mellitus a decrease in the physiological blood pressure during the night is a frequent finding. There is also an increase in the glomerular filtration rate.


Assuntos
Pressão Sanguínea , Diabetes Mellitus Tipo 1/fisiopatologia , Rim/fisiopatologia , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Estudos Prospectivos
4.
An. pediatr. (2003, Ed. impr.) ; 77(4): 261-266, oct. 2012. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-102703

RESUMO

Objetivos: Revisar las características clínicas y radiológicas de las distintas formas de duplicación del tracto urinario, valorando la evolución de los casos y la incidencia de lesión en el parénquima renal. Material y métodos: Se estudió retrospectivamente a 301 niños diagnosticados de duplicación pieloureteral mediante ecografía urológica, cistografía miccional seriada (CUMS) y gammagrafía renal con tecnecio99 (DMSA). Resultados: Se clasificaron en 4 grupos. El primer grupo estaba constituido por 166 (55,1%) casos, que presentaban una duplicación pieloureteral completa sin componente obstructivo (DC). Los que presentaban una obstrucción del sistema superior, bien por presentar un uréter ectópico (UE) 19 (6,3%) o un ureterocele (UTC) 35 (11,6%) se dividieron en 2 grupos distintos. El cuarto grupo 81 (26,9%) presentaban una duplicación pieloureteral incompleta (DI). El estudio nefrourológico se realizó en 181/301 tras presentar una infección del tracto urinario; en 100/301 tras detectarse prenatalmente una hidronefrosis. En 20/301 el diagnóstico fue casual. El porcentaje de ecografías al diagnóstico con dilatación del hemirriñón superior fue significativamente superior en los UE 16/19 (84%) y en los UTC 33/35 (94%), en relación con las dilataciones del polo superior encontradas en DC 35/166 (21%) y DI 21/81 (25%).Fueron intervenidos quirúrgicamente 69/166 (41%) de las DC; 7/81 (9%) de las DI; 16/19 (84%) de los UE, y 34/35 (97%) de los UTC. Tres casos con UE y 8 con UTC requirieron una segunda intervención y 3 fueron sometidos a una tercera intervención. El 58% de los pacientes pertenecientes al grupo de DC, 87% de las DI, 29% de los UE, 5% de los UTC, no mostraron alteraciones gammagráficas. Al estudiar las duplicaciones renales no intervenidas se observa que había 98 unidades refluyentes en las DC y de 74 en las DI. La tasa de resolución espontánea de los RVU fue del 80% en la DC y del 90% en la DI (prueba de McNemar p<0,001). El tiempo medio de curación osciló entre 1 año y 5 años (media de 3 años y 3 meses). Conclusión: Los pacientes con más riesgo de presentar lesión renal son los que presentaban una duplicación con obstrucción del hemirriñón superior por inserción ectópica del uréter y especialmente por ureterocele (AU)


Objectives: Review the clinical and radiological characteristics of the different kinds of urinary tract duplications, assessing the outcome of the cases and the incidence of renal parenchymal injury. Material and methods: A retrospective study was performed including 301 children diagnosed of renal duplication by urological ultrasound, voiding cystourethrogram (VCUG) and 99-technetium renal scintigraphy (DMSA). Results: They were classified in four groups. The first consisted of 166 (55.1%) cases that had complete ureteral duplication without an obstructive component (CD). The cases that had an upper system obstruction due to an ectopic ureter (EU), 19 (6.3%), or an ureterocele (UTC), 35 (11.6%), were divided into two different groups. The fourth group 81 (26.9%) had incomplete ureteral duplication. The nephro-urological study was performed in 181/301 after a urinary tract infection; in 100/301 after a prenatal finding of hydronephrosis. It was a casual diagnosis in 20/301.The percentage upper kidney dilation in the diagnostic ultrasound was significantly higher in those with EU 16/19 (84%) and in those with UTC 33/35 (94%), compared with the upper pole dilations found in the CD 35/166 (21%) and ID 21/81 (25%).Surgery was performed in 96/166 (41%) of the CD, 7/81 of the ID, 16/19 (84%) of the EU, and 34/35 (97%) of the UTC. Three cases with EU and 8 with UTC needed a second surgery, and 3 a third one. No scintigraphy changes were observed in 58% of the patients in the CD group, 87% in the ID group, 29% in the EU group, and 5% in the UTC group. As regards the renal duplications who did not have surgery, it was found that there were 98 refluxing units in the CD, and 74 in the ID. The spontaneous resolution of the vesicoureteral reflux (VUR) was 80% in the CD, and 90% in the ID (McNemar test P<0.001). The average healing time ranged from 1 year to 5 years (Mean: 3 years and 3 months). Conclusion: The patients with higher risk of having renal injury are those who presented with a duplication with upper kidney obstruction due to ectopic insertion of the ureter, particularly due to an ureterocele (AU)


Assuntos
Humanos , Sistema Urinário/anormalidades , Anormalidades Urogenitais , Estudos Retrospectivos , Ureterocele , Ureter/anormalidades
5.
An Pediatr (Barc) ; 77(4): 261-6, 2012 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-22534038

RESUMO

OBJECTIVES: Review the clinical and radiological characteristics of the different kinds of urinary tract duplications, assessing the outcome of the cases and the incidence of renal parenchymal injury. MATERIAL AND METHODS: A retrospective study was performed including 301 children diagnosed of renal duplication by urological ultrasound, voiding cystourethrogram (VCUG) and 99-technetium renal scintigraphy (DMSA). RESULTS: They were classified in four groups. The first consisted of 166 (55.1%) cases that had complete ureteral duplication without an obstructive component (CD). The cases that had an upper system obstruction due to an ectopic ureter (EU), 19 (6.3%), or an ureterocele (UTC), 35 (11.6%), were divided into two different groups. The fourth group 81 (26.9%) had incomplete ureteral duplication. The nephro-urological study was performed in 181/301 after a urinary tract infection; in 100/301 after a prenatal finding of hydronephrosis. It was a casual diagnosis in 20/301. The percentage upper kidney dilation in the diagnostic ultrasound was significantly higher in those with EU 16/19 (84%) and in those with UTC 33/35 (94%), compared with the upper pole dilations found in the CD 35/166 (21%) and ID 21/81 (25%). Surgery was performed in 96/166 (41%) of the CD, 7/81 of the ID, 16/19 (84%) of the EU, and 34/35 (97%) of the UTC. Three cases with EU and 8 with UTC needed a second surgery, and 3 a third one. No scintigraphy changes were observed in 58% of the patients in the CD group, 87% in the ID group, 29% in the EU group, and 5% in the UTC group. As regards the renal duplications who did not have surgery, it was found that there were 98 refluxing units in the CD, and 74 in the ID. The spontaneous resolution of the vesicoureteral reflux (VUR) was 80% in the CD, and 90% in the ID (McNemar test P<.001). The average healing time ranged from 1 year to 5 years (Mean: 3 years and 3 months). CONCLUSION: The patients with higher risk of having renal injury are those who presented with a duplication with upper kidney obstruction due to ectopic insertion of the ureter, particularly due to an ureterocele.


Assuntos
Rim/anormalidades , Ureter/anormalidades , Pré-Escolar , Coristoma/complicações , Coristoma/diagnóstico , Feminino , Humanos , Hidronefrose/diagnóstico , Hidronefrose/etiologia , Lactente , Nefropatias/etiologia , Masculino , Estudos Retrospectivos , Obstrução Ureteral/diagnóstico , Obstrução Ureteral/etiologia , Ureterocele/diagnóstico , Ureterocele/etiologia
6.
An. pediatr. (2003, Ed. impr.) ; 75(5): 329-333, nov. 2011. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-97667

RESUMO

Objetivo: Analizar las anomalías renales de posición y de fusión así como la patología nefrourológica y extrarrenal asociada en una cohorte de un hospital terciario. Material y métodos: Se revisaron retrospectivamente las historias clínicas de 84 niños diagnosticados de ectopia renal (ER) y riñones en herradura (RH), desde 1999 hasta 2010. Resultados: De los 84 pacientes estudiados, el diagnóstico prenatal se estableció en 53/84 (63,09%). Fueron diagnosticadas: 35 ectopias renales simples (ERS) unilaterales, una ERS bilateral, 2 ectopias renales cruzadas (ERC) sin fusión, 17 ERC con fusión y 29 casos de RH. La edad media al diagnóstico fue 30 días (rango 0-12 meses).En las ER se encontró una incidencia de enfermedad nefrourológica asociada de 17/84 (20,23%) en el riñón ectópico (RE) y de 15/84 (17,85%) en el riñón contralateral (RC). La mayoría correspondían a reflujo vesicoureteral (RVU). Se detectaron 4 riñones con displasia renal multiquística. En 4 casos había agenesia del RC. En los RH la incidencia de enfermedad nefrourológica asociada fue 14/84 (16,66%). La anomalía urológica asociada más frecuente también fue RVU. En 21/84 (5,45%) de los pacientes presentaban una enfermedad extrarrenal, predominando las anomalías del sistema esquelético en 9/84 (10,71%), genitales en 5/84 (5,95%), cardiacas en 3/84 (3,57%) y en 1/84 digestiva (1,19%). Con malformaciones faciales nacieron 3/84 (3,57%), con enfermedad endocrina 2/84 (2,38%) y 8/84 niños (9,52%) presentaban un síndrome polimalformativo. La complicación urológica detectada más común en el seguimiento fue la ITU en 10/84 casos (11,91%). Conclusiones: La detección de un riñón ectópico o en herradura exige la búsqueda de otras anomalías nefrourológicas asociadas y de anomalías estructurales extrarrenales. La evaluación periódica evitará posibles complicaciones (AU)


Objectives: To analyse kidney position and fusion anomalies, as well as associated urinary tract and extra-renal pathologies in a cohort from a tertiary hospital. Materials and methods: The medical records of 84 children with renal ectopia (RE) and horseshoe kidney (HK) in our hospital from 1999 to 2010 were retrospectively reviewed. Results: Prenatal diagnosis was made in 53 patients (63.09%). Of the 84 patients surveyed 35 had unilateral simple renal ectopia (SRE), 1 had bilateral SRE; 2 had crossed renal ectopia (CRE) without fusion, 17 had CRE with fusion, and 29 had HK. Average age was 30 days at diagnosis (IQR: 0-12 months).In the individuals with renal ectopia (RE), the incidence of associated urinary tract pathologies was 20.23% in the ectopic kidney (EK) (17 out of 84) and 17.85% in the contralateral kidney (CK) (15 out of 84). The most frequent urological pathology was vesico-ureteral reflux (VUR), 4 individuals had multicystic dysplastic kidneys (MCDK). In 4 patients renal agenesis was detected in the CK. In patients with HK, the incidence of associated urinary tract pathologies was 16.66% (14 out of 84), and the most frequent associated urological anomaly was also VUR. Of the 84 patients 21(25.45%) had extra-renal pathology. Anomalies of the skeletal system were detected in 9/84(10.71%), genital anomalies 5/84 (5.95%), cardiac anomalies 3/84 (3.57%), and digestive disease 1/84 (1.19%). Facial malformations were noted in 3/84 patients (3.57%), endocrine disorders 2/84 (2.38%), and 8/84 children (9.52%) suffered from polymalformative syndrome. During follow-up, the most frequent complication of the urinary tract was infection, observed in 10/84 patients (11.91%). Conclusions: When renal ectopia or horseshoe kidney is detected, associated renal and urinary anomalies and structural extra-renal malformations should be evaluated. Patients need long-term follow-up and should be examined regularly for potential complications (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Nefropatias/complicações , Diagnóstico Pré-Natal/tendências , Doenças Urológicas/complicações , Hidronefrose/complicações , Hidronefrose/diagnóstico , Estudos Retrospectivos , Doenças Urológicas , Hidronefrose/fisiopatologia
7.
An Pediatr (Barc) ; 75(5): 329-33, 2011 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-21724477

RESUMO

OBJECTIVES: To analyse kidney position and fusion anomalies, as well as associated urinary tract and extra-renal pathologies in a cohort from a tertiary hospital. MATERIALS AND METHODS: The medical records of 84 children with renal ectopia (RE) and horseshoe kidney (HK) in our hospital from 1999 to 2010 were retrospectively reviewed. RESULTS: Prenatal diagnosis was made in 53 patients (63.09%). Of the 84 patients surveyed 35 had unilateral simple renal ectopia (SRE), 1 had bilateral SRE; 2 had crossed renal ectopia (CRE) without fusion, 17 had CRE with fusion, and 29 had HK. Average age was 30 days at diagnosis (IQR: 0-12 months). In the individuals with renal ectopia (RE), the incidence of associated urinary tract pathologies was 20.23% in the ectopic kidney (EK) (17 out of 84) and 17.85% in the contralateral kidney (CK) (15 out of 84). The most frequent urological pathology was vesico-ureteral reflux (VUR), 4 individuals had multicystic dysplastic kidneys (MCDK). In 4 patients renal agenesis was detected in the CK. In patients with HK, the incidence of associated urinary tract pathologies was 16.66% (14 out of 84), and the most frequent associated urological anomaly was also VUR. Of the 84 patients 21(25.45%) had extra-renal pathology. Anomalies of the skeletal system were detected in 9/84(10.71%), genital anomalies 5/84 (5.95%), cardiac anomalies 3/84 (3.57%), and digestive disease 1/84 (1.19%). Facial malformations were noted in 3/84 patients (3.57%), endocrine disorders 2/84 (2.38%), and 8/84 children (9.52%) suffered from polymalformative syndrome. During follow-up, the most frequent complication of the urinary tract was infection, observed in 10/84 patients (11.91%). CONCLUSIONS: When renal ectopia or horseshoe kidney is detected, associated renal and urinary anomalies and structural extra-renal malformations should be evaluated. Patients need long-term follow-up and should be examined regularly for potential complications.


Assuntos
Rim/anormalidades , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Doenças Urológicas/epidemiologia , Doenças Urológicas/etiologia
8.
An. pediatr. (2003, Ed. impr.) ; 74(1): 47-50, ene. 2011. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-90251

RESUMO

La hipercalcemia hipocalciúrica familiar (FHH) es una de las causas de hipercalcemia; se hereda de forma autosómica dominante, y posee alta penetrancia. Es el resultado de una mutación inactivante en el gen del receptor sensible al calcio (CaSR). Los casos heterocigotos no suelen presentar síntomas y se diagnostican de forma incidental. Presentamos los casos de tres niñas afectas de una mutación inactivante en heterocigosis, p.Phe789 del, en el exón 7 del gen del receptor sensible al calcio (gen CASR) localizado en el cromosoma 3q21 (Ensembl ENSG00000036828). En las muestras sanguíneas se constató hipercalcemia con calcio iónico elevado, hormona paratiroidea normal o elevada, y la calciuria disminuida. Es importante establecer el diagnostico-diferencial con el hiperparatiroidismo primario. Por lo tanto, en presencia de una hipercalcemia con hormona paratiroidea elevada o normal, se debe realizar el estudio familiar y determinar la calciuria. La aparición de algún miembro afecto en la familia o la aparición de hipocalciuria es suficiente para sospechar esta entidad e indicar el análisis mutacional, para establecer el diagnóstico diferencial con el hiperparatiroidismo primario y evitar tratamientos innecesarios (AU)


Familial hypocalciuric hypercalcemia (FHH) is a cause of hypercalcemia with autosomal dominant pattern of inheritance and high penetrance. In most of the cases it can be shown to be due to an inactivating mutation on the gene coding for the calcium-sensing receptor (CaSR). Heterozygous cases usually do not present symptoms and they are diagnosed as an incidental finding. We report three affected children with an inactivating heterozygous mutation, p.Phe789del, in exon 7 of the calcium-sensing receptor gene (CASR gene), situated in chromosome 3q21 (Ensembl ENSG00000036828), which results in elevated serum calcium, normal o high level of parathyroid hormone (PTH) and reduced urinary excretion with hypocalciuria. It is very important to determine the difference between FHH and primary hyperparathyroidism. Therefore, in a mild to moderate PTH-dependent hypercalcemia we must perform a family study and determine the urinary excretion of calcium. The presence of any other affected family member or reduced urinary calcium excretion is enough to suspect FHH, and this should be confirmed by the mutational analysis of the CASR gene, in order to establish the correct diagnosis, differentiated from primary hyperparathyroidism, to avoid unnecessary investigations or operations (AU)


Assuntos
Humanos , Feminino , Lactente , Pré-Escolar , Criança , Hipercalcemia/genética , Cálcio/urina , Distúrbios do Metabolismo do Cálcio/genética , Receptores de Detecção de Cálcio/genética , Hiperparatireoidismo/diagnóstico , Diagnóstico Diferencial , Heterozigoto
9.
An Pediatr (Barc) ; 74(1): 47-50, 2011 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-21185797

RESUMO

Familial hypocalciuric hypercalcemia (FHH) is a cause of hypercalcemia with autosomal dominant pattern of inheritance and high penetrance. In most of the cases it can be shown to be due to an inactivating mutation on the gene coding for the calcium-sensing receptor (CaSR). Heterozygous cases usually do not present symptoms and they are diagnosed as an incidental finding. We report three affected children with an inactivating heterozygous mutation, p.Phe789del, in exon 7 of the calcium-sensing receptor gene (CASR gene), situated in chromosome 3q21 (Ensembl ENSG00000036828), which results in elevated serum calcium, normal o high level of parathyroid hormone (PTH) and reduced urinary excretion with hypocalciuria. It is very important to determine the difference between FHH and primary hyperparathyroidism. Therefore, in a mild to moderate PTH-dependent hypercalcemia we must perform a family study and determine the urinary excretion of calcium. The presence of any other affected family member or reduced urinary calcium excretion is enough to suspect FHH, and this should be confirmed by the mutational analysis of the CASR gene, in order to establish the correct diagnosis, differentiated from primary hyperparathyroidism, to avoid unnecessary investigations or operations.


Assuntos
Mutação , Receptores de Detecção de Cálcio/genética , Criança , Pré-Escolar , Feminino , Humanos , Hipercalcemia/congênito , Hipercalcemia/genética , Lactente , Linhagem
10.
Mutagenesis ; 25(6): 561-8, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20650930

RESUMO

Well-established in vitro methods for testing the genotoxic potency of chemicals--such as the Ames/Salmonella test, the mouse lymphoma assay, the micronucleus test and the chromosomal aberration test--show a high false-positive rate for predicting in vivo genotoxicity and carcinogenicity. Thus, there is a need for more reliable in vitro assays. We investigated whether gene expression profiling in metabolically competent primary mouse hepatocytes is capable of discriminating true genotoxic (GTX) compounds from false-positive genotoxic (FP-GTX) compounds. Sandwich-cultured primary hepatocytes from male C57Bl6 mice were treated for 24 and 48 h with five true GTX and five FP-GTX compounds. Whole genome gene expression modifications were analysed by means of Affymetrix mouse genome 430 2.0 microarrays. Filtered genes were used for hierarchical clustering and class prediction methods. Classifiers were generated by prediction analysis of microarray using a leave-one-compound-out method and selecting the genes that were common to the 10 training sets. For the training compounds, all but one were correctly classified. Validation of the classification model with five new compounds resulted in a 100% correct classification at 24 h and 80% at 48 h. The generated classifiers were mostly involved in metabolic and biosynthetic processes, immune responses and apoptosis. Applying genes whose expression change correlates with γH2AX foci, a measure for DNA damage, did not improve the classification. The present study shows that gene expression profiling in primary mouse hepatocytes is capable of discriminating between true GTX and FP-GTX compounds.


Assuntos
Carcinógenos/toxicidade , Perfilação da Expressão Gênica , Hepatócitos/efeitos dos fármacos , Hepatócitos/metabolismo , Animais , Carcinógenos/classificação , Carcinógenos/isolamento & purificação , Técnicas de Cultura de Células , Células Cultivadas , Análise por Conglomerados , Dano ao DNA , Reações Falso-Positivas , Histonas/genética , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Testes de Mutagenicidade/métodos , Testes de Mutagenicidade/normas
11.
An. pediatr. (2003, Ed. impr.) ; 69(6): 521-525, dic. 2008. tab
Artigo em Es | IBECS | ID: ibc-70041

RESUMO

Introducción: En el lactante con infección del tracto urinario (ITU), no es necesaria la presencia de reflujo vesicoureteral (RVU) para que se produzca una lesión renal adquirida. Sólo los reflujos graves pueden ser un factor que favorezca su aparición. Objetivos: Valorar si en los lactantes diagnosticados por primera vez de una ITU con fiebre, una gammagrafía renal con ácido dimercaptosuccínico (DMSA) inicial normal puede ser utilizado como método de cribado para detectar los reflujos graves y sustituir a la cistouretrografía miccional seriada(CUMS). Pacientes y métodos: Hemos estudiado retrospectivamente 162 lactantes menores de 2 años controlados en nuestro hospital por haber presentado la primera manifestación de una ITU con fiebre (92 varones y 70 mujeres). En todos los casos se habían practicado, a los pocos días del diagnóstico, una ecografía renal, una DMSA y una CUMS. Resultados: De los 162 pacientes, 62 (38 %) tenían RVU, de los cuales56 (90 %) eran leves y seis (10 %), graves. El DMSA era anormal en 26 de 100 pacientes sin RVU (26 %), en 12 de56 con RVU leve (21 %) y en 6 de 6 casos de los que tenían RVU grave (100 %). La sensibilidad del DMSA para detectarlos reflujos graves era del 100 % y la especificidad del 76%.El valor predictivo positivo y el valor predictivo negativo eran del 14 y el 100 %, respectivamente. El cociente de probabilidad positivo era de 4,17 y el cociente de probabilidad negativo de 0. Conclusiones: En el lactante con una primera manifestación de una ITU, una DMSA inicial negativa hace innecesaria la realización de la CUMS (AU)


Introduction: The presence of vesicoureteral reflux (VUR) in an infant with urinary tract infection (UTI), does not necessarily lead to an acquired renal injury. Only serious reflux can be a factor in fostering its appearance. Objectives: To assess whether in infants diagnosed for the first time with a UTI with a fever, a routine initial DMSA can be used as a screening method for detecting severe reflux and replace voiding cystourethrography (VCUG). Patients and methods: We retrospectively studied 162 infants under 2 years old admitted to our hospital due to having a ITU with fever for the first time (92 males and 70 females). In all cases, arenal ultrasound, DMSA and VCUG had been performed a few days after the diagnosis. Results: Of the 162 patients, 62 (38 %) had VUR, of which 56(90 %) were mild and 6 (10 %) were severe. The DMSA was abnormal in 26/100 patients without VUR (26 %), 12/56 with mild VUR (21 %) and 6/6 of those with severe VUR (100 %). DMSA sensitivity for detecting severe reflux was 100 % and specificity was 76 %. The positive predictive value and negative predictive value was 14 % and 100 % respectively. The positive likelihood ratio was 4.17 and the negative likelihood ratio was 0. Conclusions: It is unnecessary to carry out VCUG in an infant with an initial UTI, and a negative DMSA (AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Febre/complicações , Febre/etiologia , Infecções Urinárias/complicações , Infecções Urinárias , Refluxo Vesicoureteral/complicações , Succímero/uso terapêutico , Succímero , Refluxo Vesicoureteral , Estudos Retrospectivos , Valor Preditivo dos Testes
12.
An Pediatr (Barc) ; 69(6): 521-5, 2008 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-19128764

RESUMO

INTRODUCTION: The presence of vesicoureteral reflux (VUR) in an infant with urinary tract infection (UTI), does not necessarily lead to an acquired renal injury. Only serious reflux can be a factor in fostering its appearance. OBJECTIVES: To assess whether in infants diagnosed for the first time with a UTI with a fever, a routine initial DMSA can be used as a screening method for detecting severe reflux and replace voiding cystourethrography (VCUG). PATIENTS AND METHODS: We retrospectively studied 162 infants under 2 years old admitted to our hospital due to having a ITU with fever for the first time (92 males and 70 females). In all cases, a renal ultrasound, DMSA and VCUG had been performed a few days after the diagnosis. RESULTS: Of the 162 patients, 62 (38 %) had VUR, of which 56 (90 %) were mild and 6 (10 %) were severe. The DMSA was abnormal in 26/100 patients without VUR (26 %), 12/56 with mild VUR (21 %) and 6/6 of those with severe VUR (100 %). DMSA sensitivity for detecting severe reflux was 100 % and specificity was 76 %. The positive predictive value and negative predictive value was 14 % and 100 % respectively. The positive likelihood ratio was 4.17 and the negative likelihood ratio was 0. CONCLUSIONS: It is unnecessary to carry out VCUG in an infant with an initial UTI, and a negative DMSA.


Assuntos
Infecções Urinárias/diagnóstico por imagem , Feminino , Febre/etiologia , Humanos , Lactente , Masculino , Radiografia , Estudos Retrospectivos , Uretra/diagnóstico por imagem , Bexiga Urinária/diagnóstico por imagem , Infecções Urinárias/complicações , Micção
13.
FEBS J ; 274(18): 4802-11, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17824958

RESUMO

Grape (Vitis vinifera) and pine (Pinus pinaster) bark extracts are widely used as nutritional supplements. Procyanidin-rich fractions from grape and pine bark extract showing different mean degrees of polymerization, percentage of galloylation (percentage of gallate esters) and reactive oxygen species-scavenging capacity were tested on HT29 human colon cancer cells. We observed that the most efficient fractions in inhibiting cell proliferation, arresting the cell cycle in G(2) phase and inducing apoptosis were the grape fractions with the highest percentage of galloylation and mean degree of polymerization. Additionally, the antiproliferative effects of grape fractions were consistent with their oxygen radical-scavenging capacity and their ability to trigger DNA condensation-fragmentation.


Assuntos
Biflavonoides/química , Catequina/química , Ciclo Celular/efeitos dos fármacos , Pinus/química , Proantocianidinas/química , Extratos de Tecidos/química , Extratos de Tecidos/farmacologia , Vitis/química , Animais , Apoptose/efeitos dos fármacos , Biopolímeros/química , Linhagem Celular , Proliferação de Células/efeitos dos fármacos , Células HT29 , Humanos , Estrutura Molecular , Casca de Planta/química , Ratos
14.
An Pediatr (Barc) ; 67(2): 123-32, 2007 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-17692257

RESUMO

BACKGROUND: Most primary non-refluxing megaureters resolve spontaneously and the indications for surgery are not sufficiently well established. OBJECTIVES: To analyze the clinical features, treatment and outcome of asymptomatic primary non-refluxing megaureter. PATIENTS AND METHODS: We retrospectively studied 58 infants with primary non-refluxing megaureter. The diagnostic methods used were renal ultrasound, renal isotopic renogram, DMSA scan, and evaluation of renal function. RESULTS: The mean age at postnatal diagnosis was 24 days. The mean follow-up was 4 years. Sixty-nine percent of the patients were male. Fifty-seven percent were left megaureters and 22% were bilateral (71 affected renal units). Eleven percent of megaureters were grade I, 48% were grade II, and 41% were grade III. Only nine patients (15%) received surgical treatment. The indications for surgical treatment were severe megaureter (3/9 patients; 33%), prolonged T1/2 (3/9 patients; 33%), reduced function (1/9 patients; 11%), prolonged T1/2 plus reduced function (1/9 patients; 11%) and increased dilation (1/9 patients; 11%). The mean age at surgery was 7 months. Outcomes in the non-surgical group (85% of the patients; 60 renal units) were as follows: 90% of megaureters were corrected or improved on ultrasound scan and 10% showed no change. In the first renogram, function was low in 4/60 kidneys (7%) and T1/2 was prolonged in 3/60 (5%). Finally, all kidneys in the non-surgical group had normal function, except one, which was injured from the beginning. T1/2 was normal in all kidneys. Outcomes in the surgical group (10 megaureters) were as follows: 80% of megaureters were corrected or improved after surgical intervention and 20% showed no change. At diagnosis, 4/10 kidneys (40%) had reduced function. In the post-surgical renogram 2/10 kidneys (20%) continued to show reduced function, 1/10 kidney (10%) showed restored renal function, and 1/10 kidney (10%) was nephrectomized. Initial T1/2 was prolonged in 4/10 patients (40%), and after surgery T1/2 was normal in all patients. The final DMSA scan showed 5/71 kidneys (7%) with irreversible damage (one slightly injured, two moderately injured, and three severely injured). The remaining 66 kidneys were normal. Overall renal function and blood pressure were normal in all patients. CONCLUSIONS: Primary non-refluxing megaureter is usually a functional and benign congenital malformation that resolves during the first months of life. Although the malformation can persist, only a few patients require surgical treatment. Most authors agree that initial treatment should not be surgical and that surgery should be reserved for patients who develop ureteral dilation, a decrease in differential renal function, and/or severe symptoms during follow-up. In a few patients (7% of our series), the renal unit belonging to the megaureter shows irreversible congenital injury. In these patients, surgery is not useful.


Assuntos
Ultrassonografia Pré-Natal , Ureter/anormalidades , Criança , Pré-Escolar , Interpretação Estatística de Dados , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Testes de Função Renal , Masculino , Renografia por Radioisótopo , Compostos Radiofarmacêuticos , Estudos Retrospectivos , Ácido Dimercaptossuccínico Tecnécio Tc 99m , Fatores de Tempo , Ureter/diagnóstico por imagem , Ureter/cirurgia , Obstrução Ureteral/diagnóstico
15.
An. pediatr. (2003, Ed. impr.) ; 67(2): 123-132, ago. 2007. ilus, tab
Artigo em Es | IBECS | ID: ibc-055631

RESUMO

Antecedentes Aunque la mayoría de los megauréteres primarios no refluyentes se solucionan espontáneamente, las indicaciones de cirugía no están bien establecidas. Objetivos Analizar las características clínicas, el tratamiento y la evolución del megauréter primario no refluyente asintomático. Pacientes y métodos Estudio retrospectivo de 58 lactantes con megauréter primario no refluyente. Técnicas diagnósticas utilizadas: la ecografía, el renograma, el 99Tc-ácido dimercaptosuccínico (DMSA) y la función renal. Resultados La edad media al diagnóstico posnatal era de 24 días y tiempo medio (T1/2) de seguimiento de 4 años. El 69 % de los pacientes eran varones. El 57 % de los megauréteres eran izquierdos y el 22 % bilaterales (71 unidades renales afectadas). El 11 % de los megauréteres eran grado I, el 48 % grado II y el 41 % grado III. El 15 % (9 pacientes) recibieron tratamiento quirúrgico y el 85 % restante (49 pacientes) no precisaron intervención. Las indicaciones quirúrgicas fueron: megauréter muy severo (3/9 pacientes; 33 %), T1/2 alargado (3/9 pacientes; 33 %), función disminuida (1/9 pacientes; 11 %), T1/2 alargado 1 función disminuida (1/9 pacientes; 11 %) y aumento dilatación (1/9 pacientes; 11 %). La edad media a la intervención fue de 7 meses. La evolución de los megauréteres del grupo no quirúrgico (60 unidades renales) fue la siguiente: 90 % se corrigieron-mejoraron en la ecografía y 10 % no sufrieron cambios. La función en el renograma inicial estaba disminuida en 4/60 riñones (7 %) y el T1/2 alargado en 3/60 (5 %). Al final todos los riñones del grupo no quirúrgico tenían una función normal salvo un caso lesionado desde el principio y el T1/2 se normalizó en todos. La evolución de los megauréteres del grupo quirúrgico (10 megauréteres) fue la siguiente: 80 % se corrigieron-mejoraron tras la intervención y el 20 % se mantuvieron sin cambios. Antes de la intervención había 4/10 riñones (40 %) con función disminuida. En el renograma postintervención, 2/10 (20 %) mantuvieron la función disminuida, 1/10 (10 %) la normalizó y 1/10 (10 %) fue nefrectomizado y no tenía renograma. El T1/2 inicial estaba alargado en 4/10 casos (40 %). Tras la intervención se normalizó en todos. El DMSA final mostró 5/71 riñones (7 %) con lesión irreversible (1 leve, 2 moderadas y 2 casos con lesión grave). Los 66 riñones restantes eran normales. La función renal global y presión arterial eran normales en todos los casos. Conclusiones El megauréter primario no refluyente es casi siempre funcional y benigno, normalizándose en los primeros meses de la vida. Aunque en algunos casos puede persistir, son muy pocos los pacientes que necesitan ser intervenidos. La mayoría de los autores consideran que el tratamiento inicial debe ser no quirúrgico, reservando la intervención para aquellos casos en los que durante el seguimiento se produzca un aumento de la dilatación ureteral, un deterioro de la función renal diferencial y/o aparezca sintomatología importante. En un grupo muy reducido de pacientes (7 % de nuestra serie) la unidad renal perteneciente al megauréter, puede presentar una lesión renal irreversible que la mayoría de las veces tiene un origen congénito y que por tanto no se beneficia de una intervención quirúrgica


Background Most primary non-refluxing megaureters resolve spontaneously and the indications for surgery are not sufficiently well established. Objectives To analyze the clinical features, treatment and outcome of asymptomatic primary non-refluxing megaureter. Patients and methods We retrospectively studied 58 infants with primary non-refluxing megaureter. The diagnostic methods used were renal ultrasound, renal isotopic renogram, DMSA scan, and evaluation of renal function. Results The mean age at postnatal diagnosis was 24 days. The mean follow-up was 4 years. Sixty-nine percent of the patients were male. Fifty-seven percent were left megaureters and 22 % were bilateral (71 affected renal units). Eleven percent of megaureters were grade I, 48 % were grade II, and 41 % were grade III. Only nine patients (15 %) received surgical treatment. The indications for surgical treatment were severe megaureter (3/9 patients; 33 %), prolonged T1/2 (3/9 patients; 33 %), reduced function (1/9 patients; 11 %), prolonged T1/2 plus reduced function (1/9 patients; 11 %) and increased dilation (1/9 patients; 11 %). The mean age at surgery was 7 months. Outcomes in the non-surgical group (85 % of the patients; 60 renal units) were as follows: 90 % of megaureters were corrected or improved on ultrasound scan and 10 % showed no change. In the first renogram, function was low in 4/60 kidneys (7 %) and T1/2 was prolonged in 3/60 (5 %). Finally, all kidneys in the non-surgical group had normal function, except one, which was injured from the beginning. T1/2 was normal in all kidneys. Outcomes in the surgical group (10 megaureters) were as follows: 80 % of megaureters were corrected or improved after surgical intervention and 20 % showed no change. At diagnosis, 4/10 kidneys (40 %) had reduced function. In the post-surgical renogram 2/10 kidneys (20 %) continued to show reduced function, 1/10 kidney (10 %) showed restored renal function, and 1/10 kidney (10 %) was nephrectomized. Initial T1/2 was prolonged in 4/10 patients (40 %), and after surgery T1/2 was normal in all patients. The final DMSA scan showed 5/71 kidneys (7 %) with irreversible damage (one slightly injured, two moderately injured, and three severely injured). The remaining 66 kidneys were normal. Overall renal function and blood pressure were normal in all patients. Conclusions Primary non-refluxing megaureter is usually a functional and benign congenital malformation that resolves during the first months of life. Although the malformation can persist, only a few patients require surgical treatment. Most authors agree that initial treatment should not be surgical and that surgery should be reserved for patients who develop ureteral dilation, a decrease in differential renal function, and/or severe symptoms during follow-up. In a few patients (7 % of our series), the renal unit belonging to the megaureter shows irreversible congenital injury. In these patients, surgery is not useful


Assuntos
Masculino , Feminino , Humanos , Obstrução Ureteral/fisiopatologia , Ultrassonografia Pré-Natal , Hidronefrose/fisiopatologia , Estudos Retrospectivos , Testes de Função Renal
16.
An Pediatr (Barc) ; 64(1): 11-20, 2006 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-16539911

RESUMO

INTRODUCTION: Currently, consensus is lacking on the indications for surgery in primary congenital unilateral hydronephrosis. OBJECTIVES: To analyze the clinical characteristics, treatment and outcome of severe asymptomatic primary congenital unilateral hydronephrosis (grades 3 and 4). PATIENTS AND METHODS: We performed a retrospective study of 98 neonates with severe primary congenital unilateral hydronephrosis. Diagnostic techniques consisted of ultrasound, renogram, and DMSA scan. RESULTS: The mean age at diagnosis was 24 days. The mean length of follow-up was 4 years. Forty-eight percent of cases were grade 3 and the remaining cases were grade 4. Fifty-six percent of the patients received conservative treatment. Forty-four percent underwent surgery. Surgical indications consisted of prolonged T1/2, reduced differential renal function and/or very severe hydronephrosis. The mean age at surgery was 5.5 months. In 94 % of the patients who received conservative treatment, hydronephrosis resolved spontaneously. In this group, renal parenchyma and renal function were normal in all patients except two. In 97 % of the patients who received surgical treatment, hydronephrosis was corrected or improved after pyeloplasty. At diagnosis, 19 kidneys had reduced function. In the postsurgical renogram, although T1/2 had markedly improved, 8 kidneys showed reduced function. DMSA performed in 63 patients belonging to both groups, outside the active phase of hydronephrosis, revealed 8 atrophic kidneys, 4 with moderately reduced renal size and function and 4 with scarring and normal renal size and function. During the study period, overall function was maintained in all patients and none developed hypertension. CONCLUSIONS: Severe congenital unilateral hydronephrosis resolves spontaneously in most patients. Consequently, clinicians increasingly adopt a conservative approach. The available diagnostic techniques cannot identify patients who will benefit from pyeloplasty. In general, accepted surgical indications are an increase in hydronephrosis and/or worsening of renal function. In our series, 15 % of the patients with hydronephrosis had an irreversible lesion of variable severity, which in some patients seemed to have developed during embryogenesis. Kidneys at risk of presenting a lesion were those that had grade 4 hydronephrosis.


Assuntos
Hidronefrose/congênito , Pré-Escolar , Feminino , Humanos , Hidronefrose/cirurgia , Lactente , Recém-Nascido , Masculino , Remissão Espontânea , Estudos Retrospectivos , Resultado do Tratamento
17.
An. pediatr. (2003, Ed. impr.) ; 64(1): 11-20, ene. 2006. ilus, tab
Artigo em Es | IBECS | ID: ibc-044486

RESUMO

Introducción Actualmente no existe consenso sobre las indicaciones de la intervención quirúrgica en la hidronefrosis congénita primaria unilateral. Objetivos Analizar las características clínicas, el tratamiento y la evolución de la hidronefrosis congénita primaria unilateral grave (grados 3 y 4) asintomática. Pacientes y métodos Estudio retrospectivo de 98 lactantes con dicha patología. Como técnicas diagnósticas se utilizaron la ecografía, el renograma y el 99mTc-ácido dimercaptosuccínico (DMSA). Resultados La edad media al diagnóstico es de 24 días y el tiempo medio de seguimiento, de 4 años. El 48 % eran hidronefrosis grado 3 y el resto grado 4. El 56 % recibieron tratamiento conservador. El 44 % fueron intervenidos. Las indicaciones quirúrgicas fueron: tiempo medio alargado, función renal diferencial disminuida y/o hidronefrosis muy grave. La edad media de intervención fue de 5,5 meses. El 94 % de los casos tratados de manera conservadora se resolvieron espontáneamente. En este grupo el parénquima y la función renales fueron normales en todos los casos menos en dos. En el 97 % de los tratados quirúrgicamente, la hidronefrosis se corrigió o mejoró tras la pieloplastia. Al diagnóstico, 19 riñones tenían una función disminuida. En el renograma postintervención, aunque el tiempo medio había mejorado llamativamente, había todavía 8 riñones con función disminuida. En un DMSA realizado en 63 pacientes pertenecientes a ambos grupos, fuera de la fase activa de la hidronefrosis, se detectó: 8 riñones atróficos, cuatro con tamaño y función renal disminuida de forma moderada y cuatro con cicatrices pero con tamaño y función normales. Durante el tiempo que duró el estudio todos los pacientes mantuvieron la función global y ninguno desarrolló hipertensión arterial. Conclusiones La hidronefrosis congénita unilateral grave es un proceso que cede espontáneamente en la mayoría de los casos, por lo que cada día son más los clínicos que adoptan una actitud conservadora en estos pacientes. Las técnicas diagnósticas disponibles no permiten predecir quiénes son los que se van a beneficiar de una pieloplastia. En general se acepta como indicaciones quirúrgicas el aumento de la hidronefrosis y/o el deterioro de la función renal. En nuestra serie el 16 % de las hidronefrosis tenían una lesión irreversible de mayor o menor intensidad que en algunos pacientes parecía haberse originado durante la embriogénesis. Las unidades renales en riesgo de presentar lesión renal son las que tienen una hidronefrosis de grado 4


Introduction Currently, consensus is lacking on the indications for surgery in primary congenital unilateral hydronephrosis. Objectives To analyze the clinical characteristics, treatment and outcome of severe asymptomatic primary congenital unilateral hydronephrosis (grades 3 and 4). Patients and methods We performed a retrospective study of 98 neonates with severe primary congenital unilateral hydronephrosis. Diagnostic techniques consisted of ultrasound, renogram, and DMSA scan. Results The mean age at diagnosis was 24 days. The mean length of follow-up was 4 years. Forty-eight percent of cases were grade 3 and the remaining cases were grade 4. Fifty-six percent of the patients received conservative treatment. Forty-four percent underwent surgery. Surgical indications consisted of prolonged T1/2, reduced differential renal function and/or very severe hydronephrosis. The mean age at surgery was 5.5 months. In 94 % of the patients who received conservative treatment, hydronephrosis resolved spontaneously. In this group, renal parenchyma and renal function were normal in all patients except two. In 97 % of the patients who received surgical treatment, hydronephrosis was corrected or improved after pyeloplasty. At diagnosis, 19 kidneys had reduced function. In the postsurgical renogram, although T1/2 had markedly improved, 8 kidneys showed reduced function. DMSA performed in 63 patients belonging to both groups, outside the active phase of hydronephrosis, revealed 8 atrophic kidneys, 4 with moderately reduced renal size and function and 4 with scarring and normal renal size and function. During the study period, overall function was maintained in all patients and none developed hypertension. Conclusions Severe congenital unilateral hydronephrosis resolves spontaneously in most patients. Consequently, clinicians increasingly adopt a conservative approach. The available diagnostic techniques cannot identify patients who will benefit from pyeloplasty. In general, accepted surgical indications are an increase in hydronephrosis and/or worsening of renal function. In our series, 15 % of the patients with hydronephrosis had an irreversible lesion of variable severity, which in some patients seemed to have developed during embryogenesis. Kidneys at risk of presenting a lesion were those that had grade 4 hydronephrosis


Assuntos
Recém-Nascido , Lactente , Criança , Pré-Escolar , Humanos , Hidronefrose/congênito , Hidronefrose/cirurgia , Remissão Espontânea , Estudos Retrospectivos , Resultado do Tratamento
18.
J Agric Food Chem ; 54(10): 3598-603, 2006 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-19127731

RESUMO

This work shows the properties of grape procyanidins with additional anticarcinogenic properties for increasing the shelf life of functional seafood preparations. Galloylated procyanidins (100 ppm, 2.7 mean degree of polymerization, 25% galloylation) extended the shelf life of minced horse mackerel muscle stored at 4 degrees C more than 8 days compared to controls without addition of polyphenols. The levels of endogenous alpha-tocopherol, EPA, and DHA of fish muscle were also preserved after 10 days at 4 degrees C. Therefore, the presence of procyanidins increased the stability of a product based on minced fish muscle during cold storage and maintained its functionality associated with the presence of polyunsaturated fatty acids and alpha-tocopherol. In addition, grape procyanidins showed a significant capacity to induce apoptosis in colon cancer cells (HT29 cell line) while being inactive in noncancer control cells (IEC-6). Thus, the product based on fatty fish muscle supplemented with grape procyanidins appears to be a stable functional food offering the combined action of omega-3 fatty acids and natural polyphenols.


Assuntos
Antineoplásicos Fitogênicos/uso terapêutico , Antioxidantes , Neoplasias do Colo/tratamento farmacológico , Gorduras na Dieta/normas , Proantocianidinas/uso terapêutico , Alimentos Marinhos , Vitis , Animais , Antineoplásicos Fitogênicos/farmacologia , Apoptose/efeitos dos fármacos , Linhagem Celular , Linhagem Celular Tumoral , Colo/efeitos dos fármacos , Suplementos Nutricionais , Peixes , Conservação de Alimentos/métodos , Humanos , Fitoterapia , Proantocianidinas/farmacologia
19.
An Pediatr (Barc) ; 61(5): 418-27, 2004 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-15530322

RESUMO

Renal stone formation is a multifactorial process in which all the information obtained from the patient (medical history, imaging tests, stone analysis, metabolic study and physicochemical urine analysis) shows a different facet of the same process. Consequently, all these investigations should be evaluated together. In half of all patients, stone formation is secondary to the presence of metabolic alterations in urine, of which the most frequent is idiopathic hypercalciuria. The second most frequent cause is infection and/or urinary malformations, while hereditary enzyme defects are highly unusual. Reference values for urinary excretion of lithogenic metabolites (calciuria, uricosuria, oxaluria, citraturia, etc.) are essential for an adequate metabolic study, since urinary excretion depends on multiple factors, which have been described in the various publications in the literature. Physicochemical study evaluating saturation of the various salts dissolved in urine should be performed. These saturations are currently considered to be a highly useful index for determining the risk of crystallization and stone formation in patients with lithiasis and for evaluating the effectiveness of treatment. Lastly, the metabolic profile of renal lithiasis in children resembles that in adults, suggesting that predisposition to renal lithiasis begins in childhood. The early detection of the metabolic alterations observed in these patients will reduce the incidence of this disease in both children and adults.


Assuntos
Cálculos Renais/metabolismo , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Cálculos Renais/química , Cálculos Renais/diagnóstico , Cálculos Renais/epidemiologia , Cálculos Renais/etiologia , Masculino , Fatores de Risco
20.
An. pediatr. (2003, Ed. impr.) ; 61(5): 418-427, nov. 2004.
Artigo em Es | IBECS | ID: ibc-35555

RESUMO

La litiasis renal es un proceso multifactorial en donde cada uno de los datos obtenidos del paciente (historia clínica, estudio por técnicas de imagen, análisis del cálculo, estudio metabólico y estudio fisicoquímico de la orina) muestra una faceta diferente de un mismo proceso, por lo que todos ellos deben ser valorados de forma conjunta. En la mitad de los pacientes, la formación de cálculos es secundaria a la presencia de alteraciones metabólicas en la orina, la más frecuente de las cuales es la hipercalciuria idiopática. La segunda causa es la infección y/o las malformaciones urinarias, mientras que los defectos enzimáticos hereditarios son muy poco frecuentes. Para poder realizar un estudio metabólico correcto, es imprescindible disponer de valores de referencia propios de la excreción urinaria de los metabolitos litogénicos (calciuria, uricosuria, oxaluria, citraturia, etc.), ya que dicha excreción depende de múltiples factores, variando entre las distintas publicaciones de la bibliografía. Debe realizarse un estudio fisicoquímico que valore las saturaciones de las distintas sales disueltas en la orina. Actualmente se considera que dichas saturaciones son un índice de gran utilidad para conocer el riesgo de cristalización y el riesgo litógeno de un paciente con litiasis, y para comprobar la eficacia del tratamiento. Por último, el perfil metabólico de la litiasis renal en el niño recuerda al descrito en el adulto, lo que sugiere que la predisposición a la litiasis renal comienza en la niñez. La detección precoz de las alteraciones metabólicas que existen en estos pacientes no solamente conseguirá disminuir la incidencia de la litiasis renal en el niño, sino también en el paciente adulto (AU)


Assuntos
Masculino , Criança , Lactente , Humanos , Feminino , Pré-Escolar , Adolescente , Fatores de Risco , Cálculos Renais
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