Why do patients with urinary diversions have an increased risk of bone fracture? A systematic review on risk factors for osteoporosis and bone mineral density loss in this group of patients.

INTRODUCTION: Patients undergoing radical cystectomy with urinary diversions (UD) are at increased risk of bone fractures compared to the general population. Although a loss of bone mineral density (BMD) has been described in patients with UD, we still do not know with certainty why these patients follow this tendency. OBJECTIVE: We performed a systematic review of the available literature to analyze the prevalence of osteoporosis and bone alterations in patients with ileal UD and the possible associated risk factors. EVIDENCE ACQUISITION: We systematically searched PubMed® and Cochrane Library for original articles published before December 2022 according to PRISMA guidelines. EVIDENCE SYNTHESIS: A total of 394 publications were identified. We selected 12 studies that met the inclusion criteria with 496 patients included. Six of the twelve studies showed decreased BMD values. Prevalence of osteoporosis was specified in three articles, with values ranging ​​from 0% to 36%. Risk factors such as age, sex, body mass index, metabolic acidosis and renal function appear to have an impact on bone tissue reduction, while type of UD, follow-up, 25-hydroxyvitamin D and parathormone had less evidence or contradictory data. The heterogeneity of the studies analyzed could led to interpretation bias. CONCLUSIONS: UD are associated with multiple risk factors for osteoporosis and bone fractures. Identifying patients at highest risk and establishing diagnostic protocols in routine clinical practice are essential to reduce the risk of fractures and the resulting complications.

Prevalencia de acidosis metabólica en derivaciones ileales tras más de un año de la cistectomía radical y repercusiones metabólicas secundarias asociadas / Prevalence of metabolic acidosis in ileal diversions more than one year after radical cystectomy and associated secondary metabolic effects

Introducción y objetivo La acidosis metabólica (AM) es una alteración conocida en pacientes con derivaciones ileales. Es más frecuente en etapas tempranas postoperatorias y disminuye con el tiempo. Nuestro objetivo es determinar su prevalencia tras más de un año de seguimiento, analizar sus factores de riesgo y evaluar su impacto en diferentes perfiles metabólicos. Materiales y métodos Realizamos un estudio observacional entre enero de 2018 y septiembre de 2022 siguiendo las normas STROBE. La AM fue definida con valores de bicarbonato venoso <22mEq/l. Analizamos 133 pacientes con una media de seguimiento de 55,24±42,36 meses. Resultados Se identificaron 16 (12%) pacientes con AM. Los pacientes con y sin AM fueron comparables en edad, sexo y tiempo de seguimiento. El grupo con AM presentó una mayor tasa de anemia (68,75 vs. 19,65%; p<0,001) e insuficiencia renal (100 vs. 45,29%; p<0,001) y niveles venosos estadísticamente significativos mayores de creatinina, cloro, potasio, hormona paratiroidea y fósforo, pero menores valores de hemoglobina, filtrado glomerular, colesterol total, vitamina D, calcio y albúmina (todos p<0,05). El filtrado glomerular fue el único factor de riesgo independiente relacionado con la AM (OR: 0,914; IC 95%: 0,878-0,95; p<0,0001), demostrando una estrecha correlación con los valores de bicarbonato venoso (r=0,387; p<0,001). Conclusiones La AM es una alteración poco prevalente en derivaciones urinarias ileales transcurrido más de un año de la cistectomía, pero tiene implicaciones en el metabolismo hematológico, renal, proteico, lipídico y óseo. Aconsejamos su monitorización en pacientes con insuficiencia renal para poder realizar un diagnóstico y tratamientos precoces (AU)

Introduction and objective Metabolic acidosis (MA) is a well-known complication in patients with ileal urinary diversions. It is common in the early postoperative stages and decreases over time. Our objective is to investigate the prevalence of MA after more than one year of follow-up, identify the associated risk factors, and analyze its secondary metabolic consequences. Materials and methods We conducted an observational study between January 2018 and September 2022 following the STROBE guidelines. MA was defined as a serum bicarbonate level <22mEq/L. Finally, we analyzed 133 patients with a mean follow-up of 55.24±42.36 months. Results MA was observed in 16 (12%) patients. Patients with and without MA were comparable in age, sex, and follow-up time. The group with MA presented a higher rate of anemia (68,75% vs 19.65%, P<.001) and renal failure (100% vs 45.29%, P<.001), statistically significant higher levels of serum creatinine, chloride, potassium, parathyroid hormone, and phosphorus but lower serum values of hemoglobin, renal glomerular filtration rate, total cholesterol, vitamin D, calcium, and albumin (all P<.05). Renal glomerular filtration rate was the only independent risk factor related to the development of MA (OR: 0.914; 95% CI: 0.878-0.95; P<.0001), proving a close correlation with venous bicarbonate values (r=.387, P<.001). Conclusions MA is a little prevalent disorder in ileal urinary diversions more than one year after radical cystectomy is performed but it has secondary consequences on hematologic, renal, protein, lipid, and bone metabolism. We recommend to a close follow-up in patients with renal failure for early diagnosis and treatment (AU)

Acidosis metabólica tras cistectomía radical con derivación urinaria ileal. ¿Sabemos tanto como creemos? Revisión sistemática / Metabolic acidosis after ileal urinary diversion and radical cystectomy. Do we know as much as we believe? A systematic review

El contacto de la orina con la mucosa de la derivación urinaria (DU) tras la cistectomía radical (CR) produce diversos intercambios iónicos que promueven el desarrollo de la acidosis metabólica (AM). Esta alteración es una causa frecuente de reingresos y complicaciones a corto/largo plazo. Realizamos una revisión sistemática sobre la AM en CR con DU ileales, analizando su prevalencia, diagnóstico, factores de riesgo y tratamiento. Llevamos a cabo una revisión de la literatura de artículos publicados en Pubmed® y Cochrane Library antes de mayo de 2022 siguiendo las recomendaciones PRISMA. Se identificaron 421 artículos, de los cuales 25 cumplieron los criterios de inclusión sumando un total de 5.811 pacientes. Los estudios analizados demuestran mucha heterogeneidad en los criterios analíticos de diagnóstico y tratamiento utilizados, pudiendo sesgar los resultados de prevalencia. El desarrollo de la AM es multifactorial, siendo más frecuente su aparición durante el periodo postoperatorio temprano, especialmente en DU con segmentos ileales más largos, con mayor continencia urinaria y en pacientes con insuficiencia renal. La edad avanzada y la diabetes son factores de riesgo relacionados en periodos más tardíos. La AM es la causa más frecuente de segundos o más reingresos hospitalarios. La realización de profilaxis alcalinizante durante 3 meses en pacientes de riesgo podría mejorar estos resultados. Aunque la AM en DU ileales es una alteración conocida, esta revisión revela la necesidad de implementar criterios homogéneos de diagnóstico, monitorización y tratamiento, además de protocolizar estrategias de prevención/profilaxis en pacientes de riesgo (AU)

Urine contact with the mucosa of the urinary diversion (UD) after radical cystectomy (RC) produces different ion exchanges that favor the development of metabolic acidosis (MA). This phenomenon is a frequent cause of hospital readmission and short/long-term complications. We performed a systematic review of MA in RCs with ileal UD, analyzing its prevalence, diagnosis, risk factors and treatment. We systematically searched Pubmed® and Cochrane Library for original articles published before May 2022 according to PRISMA guidelines. A total of 421 articles were identified. We selected 25 studies that met the inclusion criteria involving 5811 patients. Obtaining precise data on the prevalence of MA is difficult, largely due to the heterogeneity of the diagnostic criteria used given the diversity of studies analyzed. Development of MA is multifactorial. In the early period, MA is more prevalent in patients with UD with longer ileal segments, better urinary continence, and impaired renal function. Age and diabetes are risk factors associated with MA in later periods. MA is the most common cause of second or more hospital readmissions. Prophylaxis with oral bicarbonate for three months in patients at risk could improve these results. Although MA after ileal UD is a well-known condition, this review highlights the need to implement homogeneous criteria for the diagnosis, follow-up, and treatment, in addition to protocolizing prevention/prophylaxis strategies in patients at risk (AU)

Prevalence of metabolic acidosis in ileal diversions more than one year after radical cystectomy and associated secondary metabolic effects.

INTRODUCTION AND OBJECTIVE: Metabolic acidosis (MA) is a well-known complication in patients with ileal urinary diversions. It is common in the early postoperative stages and decreases over time. Our objective is to investigate the prevalence of MA after more than one year of follow-up, identify the associated risk factors, and analyze its secondary metabolic consequences. MATERIALS AND METHODS: We conducted an observational study between January 2018 and September 2022 following the STROBE guidelines. MA was defined as a serum bicarbonate level ​​<22mEq/L. Finally, we analyzed 133 patients with a mean follow-up of 55.24 ± 42.36 months. RESULTS: MA was observed in 16 (12%) patients. Patients with and without MA were comparable in age, sex, and follow-up time. The group with MA presented a higher rate of anemia (68,75% vs 19,65%, p < 0.001) and renal failure (100% vs 45,29%, p < 0.001), statistically significant higher levels of serum creatinine, chloride, potassium, parathyroid hormone, and phosphorus but lower serum values ​​of hemoglobin, renal glomerular filtration rate, total cholesterol, vitamin D, calcium, and albumin (all p < 0.05). Renal glomerular filtration rate was the only independent risk factor related to the development of MA (OR 0.914; 95% CI 0.878-0.95; p < 0.0001), proving a close correlation with venous bicarbonate values ​​(r = 0.387, p < 0.001). CONCLUSIONS: MA is a little prevalent disorder in ileal urinary diversions more than one year after radical cystectomy is performed but it has secondary consequences on hematologic, renal, protein, lipid, and bone metabolism. We recommend to a close follow-up in patients with renal failure for early diagnosis and treatment.

Metabolic acidosis after ileal urinary diversion and radical cystectomy. Do we know as much as we think we do? A systematic review.

Urine contact with the mucosa of the urinary diversion (UD) after radical cystectomy (RC) produces different ion exchanges that favor the development of metabolic acidosis (MA). This phenomenon is a frequent cause of hospital readmission and short/long-term complications. We performed a systematic review of MA in RCs with ileal UD, analyzing its prevalence, diagnosis, risk factors and treatment. We systematically searched Pubmed® and Cochrane Library for original articles published before May 2022 according to PRISMA guidelines. A total of 421 articles were identified. We selected 25 studies that met the inclusion criteria involving 5811 patients. Obtaining precise data on the prevalence of MA is difficult, largely due to the heterogeneity of the diagnostic criteria used given the diversity of studies analyzed. Development of MA is multifactorial. In the early period, MA is more prevalent in patients with UD with longer ileal segments, better urinary continence, and impaired renal function. Age and diabetes are risk factors associated with MA in later periods. MA is the most common cause of second or more hospital readmissions. Prophylaxis with oral bicarbonate for three months in patients at risk could improve these results. Although MA after ileal UD is a well-known condition, this review highlights the need to implement homogeneous criteria for the diagnosis, follow-up, and treatment, in addition to protocolizing prevention/prophylaxis strategies in patients at risk.

Validación del dispositivo de monitorización de actividad TomTom Touch Fitness Tracker® para medir la frecuencia cardíaca durante el esfuerzo / Validation of the TomTom Touch Fitness Tracker® activity monitor device for heart rate measuring during exercise (or effort)

Introducción: Las pulseras de actividad son un dispositivo asequible para controlar la salud de las personas. El modelo TomTom Touch Fitness Tracker®, por sus características, podría ser útil en este sentido. Objetivo: El objetivo de este estudio fue evaluar la validez de las pulseras de actividad física TomTom Touch Fitness Tracker® en una población de adultos sanos. Diseño: El diseño del estudio fue descriptivo, longitudinal y prospectivo, y tiene como objetivo evaluar la validez de la pulsera de actividad TomTom Touch Fitness Tracker® en adultos jóvenes sanos en comparación con el modelo POLAR RS800® validado. Métodos: Para el estudio se seleccionaron 38 jóvenes y sanos estudiantes universitarios de la Universidad de Salamanca. La frecuencia cardíaca se registró mediante la pulsera de actividad TomTom Touch Fitness Tracker®, y se comparó con los datos obtenidos por el modelo POLAR RS800®. Resultados: Se encontró una presión arterial promedio de 109 y 68mmHg. La frecuencia cardíaca basal media fue de 61 latidos por minuto (lpm). Después de realizar una prueba de esfuerzo se evidenció una fuerte correlación entre los resultados obtenidos con el dispositivo TomTom® y el modelo Polar®. Si se establece una inferencia mediante regresiones lineales, se revelan relaciones positivas con resultados estadísticamente significativos entre el dispositivo TomTom® y el modelo Polar®. Conclusiones: Los dispositivos TomTom® pueden mejorar la salud de los usuarios proporcionando datos fiables sobre la medición de la frecuencia cardíaca. Los dispositivos TomTom® permiten a los usuarios controlar el nivel de entrenamiento y esfuerzo. (AU)

Introduction: Fitness trackers are affordable devices for monitoring people's health. The TomTom Touch Fitness Tracker® model, due to its characteristics, could be useful in this regard. Objective: The objective of this study was to assess the validity of the TomTom Touch Fitness Tracker® fitness trackers in a population of healthy adults. Design: The study design was descriptive, longitudinal, and prospective and aimed to assess the validity of the TomTom Touch Fitness Tracker® activity tracker in healthy young adults compared to the validated POLAR RS800® model. Methods. In the study, 38 healthy young college students from the University of Salamanca were selected. Heart rate was produced using the TomTom Touch Fitness Tracker® activity bracelet and compared with data obtained by the POLAR RS800® model. Results: An average blood pressure of 109mmHg and 68mm Hg was found. The mean baseline heart rate was 61 beats per minute (bpm). After performing a stress test, a strong connection was evident between the results obtained with the TomTom device and the Polar model. If an inference is performed using linear regressions, positive relationships with statistically significant results are revealed between the TomTom device and the Polar model. Conclusions: TomTom devices can improve users’ health require reliable data on heart rate measurement. TomTom devices allow users to control the level of training and effort. (AU)

Impacto de la anemia sobre la supervivencia de los pacientes intervenidos de cistectomía radical por tumor vesical / Impact of anemia on the survival of patients undergoing radical cystectomy for bladder cancer

OBJETIVO: Evaluar la prevalencia de anemia preoperatoria y su impacto sobre los resultados oncológicos de pacientes intervenidos de cistectomía radical (CR) por tumor vesical. MATERIAL Y MÉTODOS: Estudio retrospectivo de 176 CR realizadas entre mayo de 2008 y julio de 2018 en un mismo centro. La anemia fue definida según los criterios de la OMS (hemoglobina < 130 mg/dl en hombres y < 120 mg/dl en mujeres). Mediante el método de Kaplan-Meier analizamos la supervivencia global, la supervivencia específica de cáncer y la supervivencia libre de recurrencia. Utilizamos la regresión logística multivariante para identificar los factores pronósticos de mortalidad global. RESULTADOS: Del total, 89 (50,6%) pacientes eran anémicos preoperatoriamente y 44 de ellos (49,4%) recibieron quimioterapia neoadyuvante. Los pacientes anémicos tuvieron un ASA mayor (ASA > 2: 54,6 vs. 27,5%, p = 0,003), más ectasia prequirúrgica (41,6 vs. 19,5%; p = 0,002), peor estadio patológico (pT > 2: 49,4 vs. 33,3%; p = 0,03), realizaron más quimioterapia neoadyuvante (49,4 vs. 19,5%; p < 0,001) y requirieron más transfusiones sanguíneas (25,8 vs. 11,5%; p = 0,015). La mediana de seguimiento fue de 27,2 meses (RIC 11,12-72,28). La supervivencia global (105 vs. 34 meses; p = 0,001), la supervivencia específica de cáncer (89 vs. 61 meses; p = 0,004) y la supervivencia libre de recurrencia (85 vs. 57 meses; p = 0,002) fueron peores en las CR anémicas. En el estudio multivariante, la anemia, un estadio pT > 2 y tener afectación ganglionar fueron identificados como factores predictores independientes de mortalidad. CONCLUSIÓN: La anemia previa a CR es común y asocia un peor pronóstico oncológico. Siendo esta una variable modificable, la implementación de programas de Patient Blood Management durante la prehabilitación puede tener un papel importante para mejorar la supervivencia de estos pacientes

OBJECTIVE: To evaluate the prevalence of preoperative anemia and its effect on oncological outcomes in patients undergoing radical cystectomy (RC) due to bladder cancer. MATERIAL AND METHODS: Retrospective single-center study with 176 RCs between May 2008 and July 2018. Anemia was defined according to the WHO classification (male < 130 mg/dL, female < 120 mg/dL). Kaplan-Meier test was used to estimate recurrence-free, cancer-specific and overall survival rates. Multivariate logistic regression was used to identify factors associated with overall mortality rates. RESULTS: Overall, 89 (50.6%) patients had preoperative anemia, and 44 of them (49.4%) received neoadjuvant chemotherapy. Anemic patients resulted in higher rates of ASA (ASA > 2: 54.6 vs. 27.5%; P = .003), ectasia rate previous to RC (41.6 vs. 19.5%; P = .002), treatment with neoadjuvant chemotherapy (49.4 vs. 19.5%; P < .001), blood transfusion rate (25.8 vs. 11.5%; P = .015) and pathological stage (pT > 2: 49.4 vs. 33.3%; P = .03) compared to non-anemic patients. Median follow-up was 27.2 months (IQR 11.12-72.28). Median overall survival (105 vs. 34 months, log-rank; P = .001), cancer-specific survival (89 vs. 61 months; P = .004) and recurrence-free survival (85 vs. 57 months; P = .002) were significantly lower in anemic patients compared to the non-anemic group. In multivariable Cox analysis, preoperative anemia, pT > 2 and N ≥ 1 were independently associated with overall mortality. CONCLUSION: Preoperative anemia was common in patients undergoing RC for bladder cancer, and it is related with a worse cancer prognosis. Anemia is a preoperative modifiable factor; we believe that the implementation of Patient Blood Management programs during prehabilitation may have a relevant role in improving the oncological outcomes in these patients

Impact of anemia on the survival of patients undergoing radical cystectomy for bladder cancer. / Impacto de la anemia sobre la supervivencia de los pacientes intervenidos de cistectomía radical por tumor vesical.

OBJECTIVE: To evaluate the prevalence of preoperative anemia and its effect on oncological outcomes in patients undergoing radical cystectomy (RC) due to bladder cancer. MATERIAL AND METHODS: Retrospective single-center study with 176 RCs between May 2008 and July 2018. Anemia was defined according to the WHO classification (male<130mg/dL, female<120mg/dL). Kaplan-Meier test was used to estimate recurrence-free, cancer-specific and overall survival rates. Multivariate logistic regression was used to identify factors associated with overall mortality rates. RESULTS: Overall, 89 (50.6%) patients had preoperative anemia, and 44 of them (49.4%) received neoadjuvant chemotherapy. Anemic patients resulted in higher rates of ASA (ASA>2: 54.6 vs. 27.5%; P=.003), ectasia rate previous to RC (41.6 vs. 19.5%; P=.002), treatment with neoadjuvant chemotherapy (49.4 vs. 19.5%; P<.001), blood transfusion rate (25.8 vs. 11.5%; P=.015) and pathological stage (pT>2: 49.4 vs. 33.3%; P=.03) compared to non-anemic patients. Median follow-up was 27.2 months (IQR 11.12-72.28). Median overall survival (105 vs. 34 months, log-rank; P=.001), cancer-specific survival (89 vs. 61 months; P=.004) and recurrence-free survival (85 vs. 57 months; P=.002) were significantly lower in anemic patients compared to the non-anemic group. In multivariable Cox analysis, preoperative anemia, pT>2 and N≥1 were independently associated with overall mortality. CONCLUSION: Preoperative anemia was common in patients undergoing RC for bladder cancer, and it is related with a worse cancer prognosis. Anemia is a preoperative modifiable factor; we believe that the implementation of Patient Blood Management programs during prehabilitation may have a relevant role in improving the oncological outcomes in these patients.

Disgenesia gonadal completa 46 XY: forma atípica con talla baja / Complete gonadal dysgenesis 46 XY: atypical form with short stature

La disgenesia gonadal completa 46 XY (46, XY CGD) es un trastorno del desarrollo sexual. Se caracteriza por el cariotipo 46 XY, genitales externos femeninos normales, presencia de estructuras müllerianas y gónadas sin desarrollar. Es un síndrome infrecuente, cuyos pacientes tienen un fenotipo femenino normal y una talla normal o alta, por lo que se diagnostican por retraso puberal o amenorrea primaria. La mayoría de los pacientes con 46, XY CGD muestran un gen SRY normal. Asociado a la presencia de un cromosoma Y, existe un riesgo marcado de tumores gonadales, especialmente después de la pubertad. El gonadoblastoma es el tumor más frecuente y tiene un alto riesgo de malignización hacia disgerminoma. Presentamos el caso de una niña que consulta a los 8 años de edad por talla baja. A la exploración la paciente presenta un fenotipo femenino normal, genitales externos femeninos, con estadio de Tanner I, peso de 21,6 kg (DE -1,43) y talla de 115,4 cm (DE -3,1). El laboratorio reveló test de estimulación con gonadotropina coriónica humana sin respuesta de testosterona y hormona antimülleriana <1 pmol/L. El cariotipo en sangre periférica es informado como 46 XY, con presencia del gen SRY. La resonancia magnética abdominal mostró la presencia de vagina, útero hipoplásico y ausencia de gónadas. Se realiza gonadectomía bilateral laparoscópica. El análisis anatomopatológico confirmó la presencia de gonadoblastoma puro bilateral de ovarios. Los hallazgos permiten confirmar el diagnóstico de 46, XY CGD. La novedad del caso radica en su baja frecuencia de aparición, la edad del diagnóstico y la presentación con una talla baja

Complete gonadal dysgenesis 46 XY (46, XY CGD) is a disorder of sexual development. It is characterized by 46 XY karyotype, normal female external genitalia, presence of Müllerian structures, and undeveloped gonads. It is a rare syndrome, in which patients have normal female phenotype, with normal or increased height, diagnosed by delayed pubertal or primary amenorrhea. The majority of patients with 46, XY CGD show a normal SRY gene. In gonadal dysgenesis associated with the presence of a Y chromosome there is a marked risk of gonadal tumors, especially after puberty. Gonadoblastoma is the most frequent tumor. It has a high risk of malignancy towards dysgerminoma. We present the case of a girl who consulted at age 8 years for short stature. On physical exam, the patient presented normal female phenotype, female external genitalia, with Tanner stage 1. Weight: 21,6 kg (sds -1,43); height: 115,4 cm (sds -3,1). Laboratory tests revealed stimulation test with HCG, did not show testosterone response, antimüllerian hormone <1 pmol/L. Karyotype in peripheral blood showed 46 XY. Genetic analysis of the SRY gene was extended and no deletions were detected. Abdominal MRI showed a normal vagina, hypoplastic uterus and confirmed the absence of gonads. Exploratory laparoscopy was performed. The anatomopathological analysis confirmed the presence of pure bilateral ovarian gonadoblastoma. Thus, the diagnosis of 46, XY CGD was confirmed. The novelty of this case lies in the rarity of the pathology as well as the clinical picture. Diagnosis before puberty as well as short stature are rare in the context of 46, XY CGD

Enfermedad de Addison autoinmune en un niño con pubarquia precoz / Autoimmune Addison’s disease in child with premature pubarche

La enfermedad de Addison, o insuficiencia suprarrenal primaria, es una enfermedad rara en los niños. La baja incidencia de la enfermedad, los síntomas inespecíficos y su lenta progresión requieren un alto índice de sospecha para su diagnóstico. La terapia sustitutiva con corticoides es vital para los pacientes con insuficiencia suprarrenal, pero el diagnóstico bioquímico es básico previo al inicio del tratamiento, por lo que ante la presencia de hiponatremia y astenia crónica debe considerarse la determinación del cortisol. Además, una vez confirmada la enfermedad, debe realizarse el estudio inmunológico. Presentamos el caso de un niño de 10 años con enfermedad de Addison de etiología autoinmune, con antecedente de pubarquia precoz, dada la baja incidencia de esta patología en la edad pediátrica. Hacemos un repaso de las pruebas realizadas para llegar al diagnóstico de la enfermedad y determinar la etiología (AU)

Addison’s disease is a rare disease in children. The low incidence of the disease, unspecific symptoms, and slow progression require a high index of suspicion for its diagnosis. Replacement therapy with corticoids is vital for patients with adrenal insufficiency but the biochemical diagnosis is essential before starting treatment, so in the presence of hyponatremia and chronic fatigue the cortisol determination should be considered. In addition to this, once disease is confirmed the immune study should be performed. We report the case of a 10 years old boy with Addison’s disease of autoimmune etiology, with history of premature pubarche, for its low incidence in childhood. We do a review of the laboratory tests to diagnose the disease and determine the etiology (AU)

Tiroiditis subaguda: presentación con hipotiroidismo y gammagrafía hipercaptante / Subacute thyroiditis presenting with hypothyroidism and high uptake scan

No disponible

Aspectos clínicos en dos casos de seudohipoparatiroidismo ( Ia y Ib) y estudio molecular del locus GNAS / Clinical features of two cases of pseudohypoparathyroidism ( I a and I b) and molecular analysis of GNAS

El seudohipoparatiroidismo (PHP) es una entidad rara, caracterizada por resistencia tisular a la hormona paratiroidea (PTH). Los 2 subtipos principales, PHP-Ia y PHP-Ib, son causados por alteraciones en el gen GNAS (20q13.3), que codifica para la proteína Gsα, esencial para la acción de la PTH y otras hormonas. El PHP-Ia se asocia a diversas alteraciones hormonales, osteodistrofia hereditaria de Albright (AHO) y actividad reducida de Gsα. Está causado por mutaciones inactivantes del gen GNAS. El PHP-Ib presenta resistencia aislada a la PTH, sin AHO y con actividad Gsα normal o levemente baja. Se asocia a defectos en la impronta de GNAS. Se presentan 2 casos con PHP-Ia y PHP-Ib, ahondando en su clínica y en el diagnóstico diferencial frente a afecciones similares (AU)

Pseudohypoparathyroidism (PHP) is a rare disorder, characterized by a tissue resistance to parathyroid hormone (PTH). The two main subtypes of PHP, PHPIa and PHPIb, are caused by alterations in the GNAS locus (20q13.3), which encodes the Gs protein, essential for the action of PTH and other hormones. PHP-Ia is associated with several hormone resistances, Albright hereditary osteodystrophy (AHO), and reduced Gsα activity. It is caused by inactivating mutations in the GNAS gene. PHPIb presents with isolated resistance to PTH, without AHO and with normal to low Gsα activity. It is related to imprinting defects in GNAS. Two unrelated cases of PHP-Ia and PHP-Ib are presented here, focusing on their clinical aspects and in the differential diagnosis with similar pathologies (AU)

[Clinical features of two cases of pseudohypoparathyroidism (ia and ib) and molecular analysis of GNAS]. / Aspectos clínicos en dos casos de seudohipoparatiroidismo (ia y ib) y estudio molecular del locus GNAS.

Pseudohypoparathyroidism (PHP) is a rare disorder, characterized by a tissue resistance to parathyroid hormone (PTH). The two main subtypes of PHP, PHPIa and PHPIb, are caused by alterations in the GNAS locus (20q13.3), which encodes the Gsα protein, essential for the action of PTH and other hormones. PHP-Ia is associated with several hormone resistances, Albright hereditary osteodystrophy (AHO), and reduced Gsα activity. It is caused by inactivating mutations in the GNAS gene. PHP-Ib presents with isolated resistance to PTH, without AHO and with normal to low Gsα activity. It is related to imprinting defects in GNAS. Two unrelated cases of PHP-Ia and PHP-Ib are presented here, focusing on their clinical aspects and in the differential diagnosis with similar pathologies.

Tiroides ectópico: causa rara de tumoración cervical en el niño / Ectopic thyroid: a rare cause of a neck mass in a child

Se denomina tiroides ectópico a la presencia de tejido tiroideofuncionante en una localización diferente a su posición normal pretraqueal. Su prevalencia en la población general es muy baja, y es una causa rara de tumoración cervical. Presentamos el caso clínico de una niña de 8 años de edad con una tumoración cervical asintomática, que fue diagnosticada de tiroidesectópico cervical. En el niño con tumoración cervical, la localización habitual de la glándula tiroides en su posición normal mediante ecografía es un método fiable e inocuo para excluir el tiroides ectópico y evitar su exéresis inadvertida. A pesar de su rareza, es un diagnóstico que debe considerarse en la evaluación de todo niño con tumoración cervical(AU)

Ectopic thyroid is the presence of functional thyroid tissue at a site other than its normal pretracheal position. Its prevalence in the general population is very low, and it rarely produces a mass. Here, we present the case of an 8-year-old girl with a neck mass that was diagnosed as ectopic thyroid tissue. In children with neck masses, the location of the thyroid gland in its normal position by routine ultrasound scan is a reliable and noninvasive method of ruling out ectopic thyroid and avoiding its inadvertent excision. In spite of its rarity, this diagnosis should be considered in the evaluation of any child with a neck mass(AU)

Influencia de los polimorfismos en genes de metabolización de carcinógenos y riesgo de cáncer de pulmón / Metabolic gene polymorphisms and lung cancer risk

Objetivo: Comprobar que polimorfismos implicados en genes del metabolismo de carcinógenos pueden contribuir a la susceptibilidad individual a desarrollar cáncer de pulmón. Hemos estudiado la relación entre dos polimorfismos en estos genes (CYP1A1 MspI y GSTP1 Ile105Val) y el riesgo de desarrollar cáncer de pulmón.Diseño: Estudio caso control de base hospitalaria que incluye 406 casos incidentes de cáncer de pulmón y 436 controles apareados por edad, género y área geográfica. Los genotipos fueron determinados por PCR-RFLP y los resultados fueron analizados usando un método de regresión logística.Resultados: Encontramos asociación entre el polimorfismoCYP1A1MspI y el riesgo de desarrollar cáncer de pulmón mientras que no encontramos asociación al estudiar el polimorfismo GSTP1 Ile105Val. El valor de la OR ajustada obtenida en el caso del CYP1A1MspI es de 1,47; 95% CI = 0,35-6,14, lo cual indica que aumenta el riesgo a desarrollar cáncer de pulmón aunque nuestros datos no son estadísticamente significativos. Por otra parte, parece que el genotipo heterocigoto para el polimorfismoGSTP1 Ile105Val tiene un papel protector frente aldesarrollo del cáncer de pulmón en mujeres (OR ajustada=0,22; CI = 0,09-0,56).Conclusión: Nuestros resultados apoyan la hipótesis de que polimorfismos en genes implicados en el metabolismo de carcinógenos y sus combinaciones pueden influir en la etiología del cáncer de pulmón

Purpose: Polymorphisms in genes involved in carcinogens metabolism might contribute to the individual susceptibility to develop different types of cancer. We have investigated the relationship between polymorphisms in two of these genes, CYP1A1 (MspI) and GSTP (Ile105Val) and the risk of developing lung cancer.Experimental Design: A hospital-based case-control studywas designed including 406 lung cancer patients and 436control subjects matched on age, gender, and geographicalarea. Genotypes were determined by PCR-RFLP and the results were analyzed using unconditional logistic regression, adjusting for relevant confounding variables.Results: A slight association was found for CYP1A1 MspI polymorphism, while no association was observed for GSTP1Ile105Val polymorphism. In this regard, the CYP1A1MspI genotype was associated with an increased risk of lung cancer(adjusted OR=1,47; 95% CI = 0,35-6,14) but there was no statistical significance. It seems that heterozygous GSTP1 variant protects to develop lung cancer in women (adjusted OR= 0,22; CI = 0,09-0,56). Furthermore, an interaction between CYP1A1 MspI and GSTP1 Ile105Val was observed, resulting in a further increase in the risk of developing lung cancer.Conclusions: These results support the hypothesis that polymorphisms and their combined effects in metabolic genes might play a role in lung cancer etiology (AU)

La Sanidad Militar Española en Minustah / Spanish Military Health Assistance in Minustah

En este artículo se expone la organización, despliegue y niveles sanitarios realizado por MINUSTAH (Mission of Nations Unites of Stabilisation in Haiti), así como el despliegue español y las actividades desarrolladas desde el Puesto de Socorro en el marco de esta operación de paz destinada al establecimiento de un entorno seguro que favorezca la democratización de Haití (AU)

In this article, the organization, deployment and MINUSTAH (Mission on Nations Unites of Stabilization in Haiti) health vels established are discussed, as much as the Spanish deployment and the developed activities at the emergencies pot inside this Opention of Peace, procuring an environment of security to promote the democratization of Haiti (AU)

[Clinical and epidemiological characteristics of influenza A virus infection in children aged less than 7 years old in primary care]. / Aspectos clínico-epidemiológicos de la infección por virus de la gripe A en menores de 7 años en atención primaria.

INTRODUCTION: The aim of this study was to describe the clinical and epidemiological features of confirmed influenza A virus infection in patients aged less than 7 years old. PATIENTS AND METHODS: We performed a retrospective, descriptive study of the clinical and epidemiological features of influenza A virus infection in patients aged less than 7 years old attending three primary care centers during the 2003-2004 influenza season. Patients with influenza A infection confirmed by immunofluorescence, cell culture, or polymerase chain reaction were interviewed to obtain clinical and epidemiological data on their disease. RESULTS: Influenza A virus was detected in 47 patients aged between 5 months and 7 years (mean: 37.3 +/- 5.7 months). Of these, 35 children (74.4 %) were aged between 0 and 4 years. The most frequent symptoms were fever (100 %), cough (95.7 %), and rhinorrhea (76.6 %). Gastrointestinal symptoms were present in 40.4 % of the patients. The mean duration of fever was 5.2 +/- 1.8 days (range 2-8). Complications occurred in nine patients (19.2 %). The frequency of influenza-like disease in parents was 9.1 % (8/88) at diagnosis of the index case and was 23.9 % (21/88) immediately after the episode in the child (p 5 0.01). The mean number of days of absence from school was 7.5 +/- 3.6 days. CONCLUSIONS: The mean age of our patients confirms that influenza is a frequent disease in infancy and childhood. The results demonstrate that the infection is transmitted from children to parents in the household setting, since the frequency of influenza-like symptoms in adults increases after influenza episodes in children.

Aspectos clínico-epidemiológicos de la infección por virus de la gripe A en menores de 7 años en atención primaria / Clinical and epidemiological characteristics of influenza A virus infectionin children aged less than 7 years old in primary care

Introducción El objetivo del estudio ha sido analizar aspectos clínicos y epidemiológicos en pacientes menores de 7 años con enfermedad confirmada por virus de la gripe A. Pacientes y métodos Estudio descriptivo retrospectivo sobre clínica y epidemiología de la infección por el virus de la gripe A en pacientes menores de 7 años, atendidos en 3 centros de atención primaria, durante la temporada gripal 2003-2004. Los pacientes con infección confirmada por inmunofluorescencia, cultivo celular o reacción en cadena de la polimerasa, fueron entrevistados para obtener la información clínico-epidemiológica. Resultados El virus de la gripe A se detectó en 47 pacientes de 5 meses a 6 años y 11 meses (media 37,3 6 5,7 meses). El 74,4 % (35/47) menor de 4 años. La fiebre (100 %), tos (95,7 %) y rinorrea (76,6 %) fueron los síntomas más frecuentes; la sintomatología gastrointestinal estuvo presente en el 40,4 % de los niños. La duración media de la fiebre fue de 5,2 6 1,8 días (rango 2-8). Se presentaron complicaciones en el 19,2 % (9/47). La frecuencia de síndromes gripales en los padres fue del 9,1 % (8/88) en el momento del diagnóstico de la gripe al caso índice y de 23,9 % (21/88) inmediatamente después de la enfermedad del niño (p 5 0,01). Los días de ausencia escolar fueron 7,5 6 3,6 días. Conclusiones La media de edad de nuestros pacientes confirma que la gripe es una enfermedad frecuente en lactantes y niños pequeños. Los resultados demuestran que en el entorno doméstico la infección se transmite de niños a padres, ya que la frecuencia de síndromes gripales en adultos aumenta tras la enfermedad del niño

Introduction The aim of this study was to describe the clinical and epidemiological features of confirmed influenza A virus infection in patients aged less than 7 years old. Patients and methods We performed a retrospective, descriptive study of the clinical and epidemiological features of influenza A virus infection in patients aged less than 7 years old attending three primary care centers during the 2003-2004 influenza season. Patients with influenza A infection confirmed by immunofluorescence, cell culture, or polymerase chain reaction were interviewed to obtain clinical and epidemiological data on their disease. Results Influenza A virus was detected in 47 patients aged between 5 months and 7 years (mean: 37.3 6 5.7 months). Of these, 35 children (74.4 %) were aged between 0 and 4 years. The most frequent symptoms were fever (100 %), cough (95.7 %), and rhinorrhea (76.6 %). Gastrointestinal symptoms were present in 40.4 % of the patients. The mean duration of fever was 5.2 6 1.8 days (range 2-8). Complications occurred in nine patients (19.2 %). The frequency of influenza-like disease in parents was 9.1 % (8/88) at diagnosis of the index case and was 23.9 % (21/88) immediately after the episode in the child (p 5 0.01). The mean number of days of absence from school was 7.5 6 3.6 days. Conclusions The mean age of our patients confirms that influenza is a frequent disease in infancy and childhood. The results demonstrate that the infection is transmitted from children to parents in the household setting, since the frequency of influenza-like symptoms in adults increases after influenza episodes in children

Efectos del VIH y otras variables sobre el resultado del tratamiento antituberculoso en España / Effects of HIV status and other variables on the outcome of tuberculosis treatment in Spain

Objetivo: Analizar el efecto del virus de la inmunodeficiencia humana (VIH) y otras variables sobre el resultado del tratamiento antituberculoso en España. Pacientes y métodos: Estudio multicéntrico de cohorte retrospectivo en 6 comunidades autónomas (de mayo de 1996 a abril de 1997). Se recogió información sobre el resultado del tratamiento en casos nuevos de tuberculosis siguiendo la normativa europea. Se realizó seguimiento de los casos hasta 3 meses después de la fecha prevista de finalización del tratamiento. Resultados: De los 4.899 pacientes incluidos, se observó un resultado satisfactorio en 3.417 (69,7%), 438 (8,9%) murieron antes o durante el tratamiento y 1.044 (21,4%) tuvieron un resultado potencialmente insatisfactorio. Estratificando por el estado de la infección por el VIH, las cifras fueron, respectivamente: para los que la presentaban, del 43,4, el 21,5 y el 35,1%; para los seronegativos, del 71, el 6,2 y el 22,8%, y para aquellos en quienes no constaba, del 74,3, el 7,5 y el 18,2%. El VIH modificaba el efecto de diversas variables sobre el resultado del tratamiento, por lo que se ajustaron modelos de regresión logística separados para cada categoría VIH. Entre los seropositivos, la mortalidad aumentó en enfermos con neoplasias y en usuarios de drogas por vías distintas de la parenteral, mientras que los resultados potencialmente insatisfactorios aumentaron en usuarios de drogas por vía intravenosa y en las mujeres. Conclusiones: En España, el resultado del tratamiento antituberculoso es mucho peor en enfermos infectados por el VIH. El uso de drogas y el hecho de padecer neoplasias tienen un papel importante sobre la mortalidad

Objective: To analyze the effect of human immunodeficiency virus (HIV) status and other variables on the outcome of tuberculosis treatment in Spain. Patients and Methods: Multicenter retrospective cohort study in 6 autonomous communities of Spain (from May 1996 to April 1997). Data on treatment outcome were collected for new cases of tuberculosis in accordance with European guidelines. Follow up of patients continued for 3 months after scheduled end of treatment. Results: Of the 4899 patients included, 3417 (69.7%) had a satisfactory outcome, 438 (8.9%) died before or during treatment, and 1044 (21.4%) had a potentially unsatisfactory outcome. On stratification by HIV status, satisfactory outcome, mortality, and potentially unsatisfactory outcome were reported for 43.4%, 21.5%, and 35.1%, respectively, of HIV-positive patients; 71%, 6.2%, and 22.8%, respectively, of HIV-negative patients; and 74.3%, 7.5%, and 18.2%, respectively, of patients with no HIV status available. HIV modified the effect of several variables on the outcome of treatment, and so separate logistic regression models for each HIV category were constructed. Among HIV-positive patients, mortality increased in patients with neoplastic disease and in users of drugs by nonintravenous routes of administration, whereas potentially unsatisfactory outcomes increased in intravenous drug users and in women. Conclusions: In Spain, the outcome of tuberculosis treatment is much worse in HIV-positive patients. Drug use and presence of neoplastic disease substantially affect mortality

Pielonefritis xantogranulomatosa: dos casos nuevos / Childhood xanthogranulomatous pyelonephritis: two new cases

Presentamos dos casos clínicos de pielonefritis xantogranulomatosa (PNX) en la infancia. En los dos casos la clínica fue inespecífica y se demostró infección urinaria asociada. En uno de ellos el diagnóstico fue preoperatorio, según las nuevas técnicas de imagen (AU)

We report two cases of xanthogranulomatous pyelonephritis in children. In both cases, the symptoms were nonspecific, but the presence of urinary tract infection was demonstrated. One case coud be diagnosed preoperatively on the basis of new imaging techniques (AU)