Informatic application to characterise and identify small mammal species: Arvicolinae (Cricetidae, Rodentia, Mammalia).

The classification of rodent species can be challenging due to high morphological similarities observed among them. This problem is further increased in palaeontological systematics, where classification is traditionally based on the molar morphology. The subfamily Arvicolinae (Rodentia, Mammalia) is one of these rodent groups, whose classification being important for biostratigraphic and climatic studies of the Quaternary period is challenging. We present an application developed using the MatLab informatic algorithm, designed to classify the Arvicolinae species using Geometric Morphometrics (GMM) analyses of the first lower molar. Moreover, the application includes an option to automatically obtain the linear measurements that are commonly used for the identification of these species. This method shows a high degree of accuracy in the species classification, which is expected to increase as the reference database is further developed. This application can serve as an alternative tool for the classification of specimens with unclear morphologies. It can also be used to reduce the time required to manually obtain the linear indices necessary for their classification.

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.

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.

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.

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.

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)

[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.

Alcohol consumption among high school students in Barcelona, Spain.

OBJECTIVE: Since adolescents are a high-risk group for alcohol-related problems, this study was undertaken to gain insight into the prevalence of alcohol consumption among this population. METHOD: This study was carried out in the city of Barcelona using an anonymous questionnaire which included information about frequency and quantity of alcohol consumption. The sample population was composed of all the students from 13 to 20 years old who were attending high school during 1992-93 (n = 1,137) and 1994-95 (n = 1,094). The amount of alcohol consumption was calculated in alcohol units per week for 4 groups of different beverages (beer, wine, spirits and aperitifs) and also in grams per day. RESULTS: Lifetime prevalence of alcohol consumption was 92.5% in 1992-93 and 77.0% in 1994-95. Students who drank more frequently were older and male. In 1992-93, 8% of female students had an absolute alcohol intake beyond 24 g per day (risk consumption), which was the same percentage in 1994-95. Male students had a higher intake, although risk consumption rate (more than 40 g per day) was similar to that of females: 9% and 7.4% in 1992-93 and 1994-95, respectively. CONCLUSIONS: While changes in the prevalence of drinking are encouraging, the results of this study also show an increase in the quantity of alcohol consumed.

[Results of anti-tuberculosis treatment in six autonomous regions in Spain]. / Resultados del tratamiento antituberculoso en seis comunidades autónomas españolas.

BACKGROUND: To analyze tuberculosis treatment outcome in Spain. PATIENTS AND METHOD: A retrospective cohort study was performed of 6 Autonomous Regions of Spain: Asturias, Catalonia, Galicia, La Rioja, Murcia and Basque Country. Study subjects were new cases of tuberculosis identified through the MPTR who were not in prison at the time of diagnosis (May 1996-April 1997). Information was gathered from the patients' clinical records. Guidelines issued for tuberculosis treatment outcome monitoring in Europe were followed. RESULTS: A total of 4,899 new cases of tuberculosis met the criteria for inclusion. Out of them, 4,240 (86.6%) had enough information on tuberculosis treatment outcome in their clinical record. Results showed that 3,417 cases (69.7%) had a satisfactory outcome, 438 (8.9%) died before or during treatment and 1,044 (21.4%) met the definition of a potentially unsatisfactory outcome. There were important differences in treatment outcome between regions. There were also variations by nationality, age group, HIV status, history of intravenous drug use, history of alcohol abuse and site of disease. CONCLUSIONS: According to the results of our study, the proportion of new cases of tuberculosis that had a satisfactory outcome at the end of treatment do not reach WHO recommended level to effectively control the disease. Therefore, it is necessary to analyze the situation and to propose measures to improve it.

[Evaluation of the information provided by the system of compulsory notification of diseases]. / Evaluación de la información que proporciona el sistema de declaración obligatoria de enfermedades.

In order to assess activities of epidemiological surveillance resulting from the statutory notification system, a total of 17,394 notification records of eight infectious diseases (brucellosis, bacillary dysentery, typhoid fever, viral hepatitis, meningococcal infection, rickettsioses other than exanthematous typhus, pulmonary tuberculosis, and tuberculosis of other organs) together with 10,503 epidemiological surveys submitted to the "Servei Territorial de Salut Pública" of the province of Barcelona between 1982 and 1986 were reviewed. In notification records, data to locate physicians were the most commonly found (between 92.6% and 99.4% according to disease), whereas in epidemiological surveys, clinical and analytical data were the most frequently encountered. The inclusion of data of epidemiological interest ranged from 3.6 to 68.6%. In order to improve efficacy of the statutory notification system a proposal is made to reduce the extension of epidemiological surveys in terms of requesting only necessary data to establish appropriate measures in each case.

[Measles outbreaks: considerations apropos of the outbreaks investigated in Catalonia (1990-1995)]. / Brotes de sarampión: consideraciones a propósito de los brotes investigados en Cataluña (1990-1995).

OBJECTIVES: To determine the factors associated with outbreak size in Catalonia. METHODS: Outbreaks over the period 1990-95 were investigated. A comparison was run between outbreaks of more than 6 cases with respect to outbreaks of 2-6 cases in function of the following variables: median age of cases, transmission setting and year of presentation. Multiple logistic regression was used to asses the independent effect of each variable, with the adjusted odds ratio (ORa) and their 95% confidence interval (CI) being obtained. RESULTS: In all, 45 outbreaks were studied, with 595 cases of measles 39.5% of outbreaks occurred in the 6-10 age group. Outbreaks of more than 6 cases had a higher likelihood of appearing in a school setting (ORa = 4.3, CI 95% 1.0-17.6); but there were no association with age (ORa = 2.1, CI 95% 0.5-9.2) or occurring prior to 1994 (ORa = 0.9, CI 95% 0.2-3.6). CONCLUSIONS: School setting determines the outbreak size of measles and demands to apply specific preventive strategies.

[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.

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)

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)

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

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