Temporal trends in growth of boys adopted from Russia / Tendencias temporales del crecimiento de niños adoptados de Rusia

Introduction: The objective of this study is to contribute data on the temporal trends in weight, height, body mass index (BMI) and head circumference (HC) in boys adopted from Russia. Material and methods: Prospective observational study on an initial cohort of 139 Russian boys adopted in Spain between 2001 and 2013. Adverse history was collected by reviewing pre-adoption medical records. Anthropometric parameters were measured and recorded in a standardized way. The measurements obtained were compared with the World Health Organization child growth standards, calculating the corresponding z-scores (Z) and percentiles for age and sex. Results: Main history: preterm (32.4%), low birth weight (26.6%), prenatal alcohol exposure (19.4%), abandonment at birth (56.1%), abuse/neglect (49.3%). Initial post-arrival evaluation, 3 (1.7) years: weight Z, -1.24; height Z, -2.34; HC Z, -1.27. Significant catch-up growth (Z increase) in the first year: weight, +0.73; height, +1.05; HC, +0.6; in the second year: height, +0.58. Longitudinal growth pattern. Weight: from age 5 years, no relevant differences were observed. Height: at age 6 years a relevant delay persisted, from ages 7 to 11 years a gradual increase was observed, and from ages 12 to 17 years a gradual decrease, no showing relevant differences. BMI: showed that the degree of height delay was always higher than that of weight, balancing after age 14 years. HC: at age 5 years, there was no longer a relevant difference. Conclusions: These findings suggest that, despite the important delay of weight, HC, and especially height at the time of adoption, and the various adverse factors for growth that they presented, international adoption led to a substantial recovery of all anthropometric parameters, showing plasticity in the physical growth of these children. (AU)

Introducción: El objetivo de este estudio es aportar datos sobre las tendencias temporales en peso, talla, índice de masa corporal (IMC) y perímetro cefálico (PC) en niños varones adoptados de Rusia. Material y métodos: Estudio observacional prospectivo sobre una cohorte inicial de 139 niños rusos adoptados en España entre los años 2001-2013. Se recopilaron antecedentes adversos revisando los informes médicos preadoptivos. Los parámetros antropométricos se midieron y registraron estandarizadamente. Las mediciones obtenidas se compararon con los estándares de crecimiento infantil de la Organización Mundial de la Salud, calculando las correspondientes puntuaciones Z (Z) y los percentiles para edad y sexo. Resultados: Antecedentes principales: pretérmino (32,4%), bajo peso al nacer (26,6%), exposición prenatal al alcohol (19,4%), abandono al nacimiento (56,1%), abuso/negligencia (49,3%). Evaluación inicial post-llegada, 3 (1,7) años: Z peso, -1,24; Z talla, -2,34; Z PC, -1,27. Crecimiento recuperador significativo (incremento Z) en el primer año: peso, +0.73; talla, +1.05; PC, +0.6; en el segundo año: talla, +0.58. Patrón de crecimiento longitudinal. Peso: desde los 5 años de edad no se observaron diferencias relevantes. Talla: a los 6 años de edad persistía retraso relevante, desde los 7 hasta los 11 años se observó aumento paulatino, y desde los 12 hasta los 17 años una disminución gradual, sin mostrar diferencias relevantes. IMC: mostró que el grado de retraso de la talla fue superior al del peso, equilibrándose a partir de los 14 años de edad. PC: a los 5 años de edad no se observó diferencia relevante. Conclusiones: Estos hallazgos sugieren que, a pesar del importante retraso del peso, PC y especialmente de la talla en el momento de la adopción, y de los diversos factores adversos para el crecimiento que presentaban, la adopción internacional condujo a una recuperación sustancial de todos los parámetros antropométricos ... (AU)

Tumor Sólido Pseudopapilar de Páncreas en varón

Objetivo: Comunicar el caso de un varón diagnosticado de tumor sólido pseudopapilar de páncreas (TSPP). Esta patología afecta fundamentalmente a mujeres jóvenes, siendo extremadamente infrecuente en hombres. Caso Clínico: Varón de 40 años diagnosticado por TC de masa intraabdominal sólida bien delimitada, de 12,5 × 13 × 8,5 cm, heterogénea, con calcificaciones periféricas y realce tras la administración de contraste en fase portal, dependiente de cuerpo-cola pancreática. Se realiza puncion, no concluyente. La laparotomía exploradora mostró tumoración sólida dependiente de cola pancreática que incluye vasos esplénicos. Se liberó el tumor de forma periférica, requiriendo pancreatectomía distal y esplenectomía. El resultado AP informó neoplasia pseudopapilar sólida de cola pancreática de bajo grado de malignidad, bien diferenciado (G1). Alta hospitalaria al 12° día sin complicaciones. Actualmente libre de enfermedad tras dos años de la intervención. Discusión: Este tumor infrecuente representa el 1%-3% de las neoplasias pancreáticas. El 90% afecta a mujeres jóvenes, con proporción de mujeres a hombres de 4:1. En estos, tiene mayor potencial maligno con peor pronóstico. Conclusión: La baja incidencia en varones puede dificultar el diagnóstico. Sin embargo, debemos tenerlo en cuenta en el diagnóstico diferencial, ya que el tratamiento quirúrgico radical aumenta significativamente la supervivencia al evitar la recurrencia local y las metástasis a distancia, lo que supone un reto quirúrgico.

Objective: To report the case of a male diagnosed with a solid pseudopapillary tumor of the páncreas. This pathology fundamentally affects young women, being extremely infrequent in men. Clinical Case: A 40-year-old man diagnosed by CT with a well-defined solid intra-abdominal mass, 12.5 × 13 × 8.5 cm, heterogeneous, with peripheral calcifications and enhancement after contrast administration in the portal phase, dependent on the body-tail of the pancreas. Fine needle puncture is performed, inconclusive. The exploratory laparotomy showed a solid tumor dependent on the pancreatic tail that included splenic vessels. The tumor was released peripherally, requiring distal pancreatectomy and splenectomy. The AP result reported solid pseudopapillary neoplasm of the pancreatic tail of low grade of malignancy, well differentiated (G1). Hospital discharge on the 12th day without complications. Currently free of disease two years after the intervention. Discussion: This rare tumor represents 2%-3% of pancreatic neoplasms. 90% affects young women, with a ratio of women to men of 4:1. In these, it has greater malignant potential with worse prognosis. Conclusion: The low incidence in males can make diagnosis difficult. However, we must take it into account in the differential diagnosis, since radical surgical treatment significantly increases survival by avoiding local recurrence and distant metastases, which is a surgical challenge.

Reacción fibrótica peneana severa secundaria a una sutura no absorbible: reporte de un caso / 144J. Arredondo M ontero et al. CIRUGÍA PEDIÁTRICA Resumen Introducción. La circuncisión es uno de los procedimientos qui- rúrgicos urológicos más frecuentemente realizados en la población pe- diátrica en todo el mundo. Las complicaciones, aunque infrecuentes, pueden ser graves. Caso clínico. Presentamos el caso de un paciente varón senegalés de 10 años que fue sometido a una circuncisión ritual en la primera infancia y que desarrolló una tumoración circunferencial progresiva en el cuerpo del pene sin otra sintomatología asociada. Se realizó una exploración quirúrgica y se identificó un rodete peneano de aspecto fibrótico que se interpretó como lesión secundaria al material de sutura no absorbible utilizado en la cirugía anterior. Se realizó una exéresis del tejido afecto y una prepucioplastia a demanda. Por limitaciones técnicas, no se pudo analizar el tejido resecado y por tanto no se pudo confirmar histopa- tológicamente el diagnóstico. El paciente evolucionó favorablemente. Conclusiones. Este caso pone de manifiesto la necesidad de for- mar adecuadamente al personal que realiza la circuncisión para evitar complicaciones severas. Palabras Clave: Fimosis; Circuncisión, Varón; Fibrosis. Severe penile fibrotic reaction secondary to a non- absorbable suture: a case report

Introducción: La circuncisión es uno de los procedimientos quirúrgicos urológicos más frecuentemente realizados en la población pediátrica en todo el mundo. Las complicaciones, aunque infrecuentes,pueden ser graves. Caso clínico: Presentamos el caso de un paciente varón senegalés de10 años que fue sometido a una circuncisión ritual en la primera infanciay que desarrolló una tumoración circunferencial progresiva en el cuerpodel pene sin otra sintomatología asociada. Se realizó una exploraciónquirúrgica y se identificó un rodete peneano de aspecto fibrótico que seinterpretó como lesión secundaria al material de sutura no absorbibleutilizado en la cirugía anterior. Se realizó una exéresis del tejido afectoy una prepucioplastia a demanda. Por limitaciones técnicas, no se pudoanalizar el tejido resecado y por tanto no se pudo confirmar histopatológicamente el diagnóstico. El paciente evolucionó favorablemente. Conclusiones: Este caso pone de manifiesto la necesidad de formar adecuadamente al personal que realiza la circuncisión para evitarcomplicaciones severas.(AU)

Introduction: Circumcision is one of the most frequent urologicalsurgical procedures in the pediatric population globally. Complications,although rare, can be severe.Clinical case: We present the case of a Senegalese 10-year-oldmale patient who had undergone ritual circumcision in his early childhood and developed a progressive circumferential tumor in the penilebody with no further associated symptoms. Surgical exploration was carried out. A fibrotic-looking penile ring, which was interpreted asan injury secondary to the non-absorbable suturing material used inthe previous surgery, was identified. The tissue involved was removed,and on-demand preputioplasty was conducted. Due to technical limitations, the resected tissue could not be analyzed, which means diagnosiscould not be histopathologically confirmed. The patient had a favorableprogression. Conclusions: This case demonstrates that the medical personnelin charge of performing circumcisions should be adequately trained inorder to prevent severe complications.(AU)

Long term erectile function results of radical perineal prostatectomy / Resultados de la prostatectomía radical perineal sobre la función eréctil a largo plazo

Introduction: Although many patients are being treated by radical prostatectomy (RP), there is still insufficient information about the changes in long-term erectile function after RP. Our aim is to examine long term, up to 5 year erectile function status of patients after Radical Perineal Prostatectomy (RPP).Materials and methods: One hundred and thirty-two patients, who underwent bilateral nerve-sparing Radical Perineal Prostatectomy (RPP) in between January 2012 and January 2017, with preoperative age≤70, prostate volume<80g, transrectal ultrasound (TRUS) guided biopsy Gleason score (GS)<7, prostate specific antigen (PSA) value<10ng/mL, and cT stage≤2 (N0, M0) were included into this study. Exclusion criteria were previous cardiovascular diseases, serious chronic renal and/or hepatic insufficiency, neurological diseases, uncontrolled diabetes mellitus, and severe lung diseases. Patients who received additional treatment (hormonal and/or radiotherapy) after RPP were also excluded from the study group. Erectile function was evaluated before surgery and at postoperative 3rd, 12th, and 60th months. Patients with an “International Index of Erectile Function (IIEF) – 5” score of ≥21 and patients whose IIEF-5 scores were between 16 and 20 but responded as “yes” to the “Sexual Encounter Profile (SEP) – 2” and “SEP-3” questions were accepted as having normal erectile function.Results: Out of the 132 patients, 96 (72.7%) of the patients were found to be potent in the first postoperative year. A total of 118 patients were evaluated at the end of 5 years. Eighty seven (73.7%) patients had normal erectile function according to our criteria. (AU)

Introducción: Aunque muchos pacientes son tratados mediante prostatectomía radical (PR), existe poca información acerca de los cambios de la función eréctil a largo plazo tras una PR. Nuestro objetivo fue examinar el estatus de la función eréctil a largo plazo, de hasta cinco años, de los pacientes tras una prostatectomía radical perineal (PRP).Materiales y métodos: Incluimos en el presente estudio a ciento treinta y dos pacientes sometidos a PRP bilateral con preservación de nervios entre enero de 2012 y enero de 2017, con edad preoperatoria ≤ 70, volumen prostático <80g, puntuación de Gleason (GS) de biopsia transrectal ecoguiada (TRUS) (GS)<7, valor de antígenos específicos prostáticos (PSA) <10 ng/ml, y estadio cT ≤ 2 (N0, M0). Los criterios de exclusión fueron enfermedades cardiovasculares previas, insuficiencia renal crónica y/o hepática graves, enfermedades neurológicas, diabetes mellitus incontrolada, y enfermedades pulmonares graves. También se excluyó del grupo de estudio a los pacientes que recibieron tratamiento adicional (hormonal y/o radioterapia) tras PRP. La función eréctil fue evaluada antes de la cirugía y a los 3, 12 y 60 meses postoperatorios. Los pacientes cuya puntuación IIEF-5 (International Index of Erectile Function) fue≥21 y los pacientes cuyas puntuaciones IIEF-5 se situaron entre 16 y 20 pero respondieron “sí” a las preguntas SEP-2 (Sexual Encounter Profile) y SEP-3 fueron aceptados como pacientes con función eréctil normal.Resultados: De los 132 pacientes, 96 (72,7%) de ellos reflejaron potencia durante el primer año postoperatorio. Se evaluó a un total de 118 pacientes al cabo de cinco años. Ochenta y siete (73,7%) pacientes tuvieron función eréctil normal con arreglo a nuestros criterios. (AU)

Evaluación de la reserva ovárica en varones trans durante el tratamiento hormonal de reafirmación / Assessment of ovarian reserve during gender affirmation hormone therapy in trans men

Resumen Varón trans es aquella persona de sexo biológico femenino con identidad de género masculina que puede optar por recibir una terapia hormonal de reafirmación con testosterona. Hasta el momento, los efectos de este tratamiento sobre la reproducción son poco claros. Se evaluaron los niveles de hormona antimülleriana en varones trans durante el tratamiento con testosterona a corto plazo. Se realizó un estudio prospectivo en 16 individuos que cumplían los requisitos para ser incluidos. Se midieron los niveles de gonadotrofinas, estradiol, testosterona y hormona antimülleriana en fase folicular temprana, previo al inicio deltratamiento hormonal de reafirmación (basal), mediante un método quimioluminiscente, y luego de 6 a 12 meses de tratamiento se determinaron los niveles de testosterona y hormona antimülleriana (control). La mediana de edad fue 22.5 años. Se obtuvieron niveles de testosterona y hormona antimülleriana basales de 0.58 ng/ml y 2.89 ng/ml respectivamente, valores dentro del rango correspondiente a mujeres biológicas. Todos los individuos, al momento del control semestral o anual del tratamiento hormonal, lograron alcanzar niveles de testosterona dentro del rango de referencia poblacional masculino (3-9 ng/ml). Sin embargo, no se observaron diferencias significativas (p 0.7630) en los niveles de hormona antimülleriana basales y luego de 6 a 12 meses de iniciado el tratamiento con testosterona. Nuestro estudio reveló que, a pesar de la alta variabilidad biológica de la hormona antimülleriana, no se observaron cambios significativos en sus niveles durante el tratamiento hormonal de reafirmación en varones trans.

Abstract Trans man is a biological female person with male gender identity, who can choose to receive a gender-affirming hormone treatment with testosterone. So far, the effects of this treatment on reproduction are unclear. Anti-müllerian hormone levels were evaluated in trans men during short-term testosterone treatment. A prospective study was conducted on 16 individuals who met the requirements to be included. The levels of gonadotrophins, estradiol, testosterone and antimüllerian hormone in the early follicular phase were measured prior to the start of the hormonal firming treatment, by means of a chemiluminescent method. The testosterone and antimüllerian hormone levels were determinedafter 6 to 12 months of treatment. The median age was 22.5 years.Basal testos terone and antimüllerian hormone levels of 0.58 ng/ml and 2.89 ng/ml respectively were obtained, values within the range corresponding to biological women. By the time of the semi-annual or annual control of the hormonal firming treatment, all the individuals managed to reach testosterone levels within the reference range of the male population (3-9 ng/ml). However, no significant differences were observed in antimüllerian hormone levels(p0.7630) before and after 6 to 12 months of starting treatment with testosterone. Our study revealed that, despite the high biological variability of the antimüllerian hormone, no significant changes in its levels were observed during the firming hormone treatment in trans men.

Long term erectile function results of radical perineal prostatectomy.

INTRODUCTION: Although many patients are being treated by radical prostatectomy (RP), there is still insufficient information about the changes in long-term erectile function after RP. Our aim is to examine long term, up to 5 year erectile function status of patients after Radical Perineal Prostatectomy (RPP). MATERIALS AND METHODS: One hundred and thirty-two patients, who underwent bilateral nerve-sparing Radical Perineal Prostatectomy (RPP) in between January 2012 and January 2017, with preoperative age≤70, prostate volume<80g, transrectal ultrasound (TRUS) guided biopsy Gleason score (GS)<7, prostate specific antigen (PSA) value<10ng/mL, and cT stage≤2 (N0, M0) were included into this study. Exclusion criteria were previous cardiovascular diseases, serious chronic renal and/or hepatic insufficiency, neurological diseases, uncontrolled diabetes mellitus, and severe lung diseases. Patients who received additional treatment (hormonal and/or radiotherapy) after RPP were also excluded from the study group. Erectile function was evaluated before surgery and at postoperative 3rd, 12th, and 60th months. Patients with an "International Index of Erectile Function (IIEF) - 5" score of ≥21 and patients whose IIEF-5 scores were between 16 and 20 but responded as "yes" to the "Sexual Encounter Profile (SEP) - 2" and "SEP-3" questions were accepted as having normal erectile function. RESULTS: Out of the 132 patients, 96 (72.7%) of the patients were found to be potent in the first postoperative year. A total of 118 patients were evaluated at the end of 5 years. Eighty seven (73.7%) patients had normal erectile function according to our criteria. DISCUSSION: According to the results of our study, short term and long term erectile function outcomes of patients undergoing RPP were favorable and there was no statistically significant difference between short and long term results.

FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.

Yunis-Varon syndrome (YVS; OMIM 216340) is a rare heterogeneous autosomal recessive disorder with easy recognition of characteristic severe neurological and skeletal abnormalities involving skeletal muscles and cartilages. This cleidocranial dysplasia is characterized by bone and tooth disorders; it also affects the cardiovascular system and tissues from ectoderm with very poor outcomes. Rarely, mutations of the FIG4 gene, encoding a 50-phosphoinositide phosphatase have been identified as the cause for YVS. We report a neonate born to a consanguineous couple with typical clinical manifestations of YVS. Using whole-exome sequencing, we identified a novel homozygous missense variant (c.968A>G; p.Gln323Arg) in the FIG4 gene. Thus, our study expands the molecular and genetic spectrum of FIG4-associated mutations. To our knowledge, this is the first reported case of YVS from the Saudi population.

Artritis séptica por Sneathia sanguinegens en un varón. Primer caso descrito en la literatura científica / Septic Arthritis due to Sneathia Sanguinegens in a Male. First Case Described in the Scientific Literature

Varón de 88 años que ingresa por artritis séptica de hombro por un bacilo Gram negativo. Se identifica el microorganismo mediante secuenciación del gen 16 S ADNr como Sneathia sanguinegens. Se trata del primer caso descrito en la literatura en un varón, ya que hasta el momento solo se habían descrito infecciones en mujeres en edad fértil.(AU)

An 88-year-old male admitted with septic shoulder arthritis due to a gram-negative bacillus. The microorganism is identified by sequencing the 16 S rDNA gene as Sneathia sanguinegens. This is the first case described in the literature in a male, since so far only infections in women of childbearing age have been described.(AU)

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

BACKGROUND: Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the diagnosis. We developed a new tandem mass spectrometry method for the screening of urinary OS which was applied to identify a large panel of storage disorders. METHODS: The method was set-up in urine and dried urine spots (DUS). Samples were analysed, without derivatization and using maltoheptaose as internal standard, by UHPLC-MS/MS with MRM acquisition of target OS transitions, including Glc4, the biomarker of Pompe disease. The chromatographic run was < 30 min. Samples from patients with known storage disorders were used for clinical validation. RESULTS: The method allowed to confirm the diagnosis of oligosaccharidoses (sialidosis, α-/ß-mannosidosis, fucosidosis, aspartylglucosaminuria) and of GM1 and GM2 (Sandhoff type) gangliosidosis, by detecting specific OS profiles. In other storage disorders (mucolipidosis II and III, mucopolysaccharidosis type IVB) the analyisis revealed abnormal OS excretion with non-specific profiles. Besides Pompe disease, the tetrasaccharide Glc4 was increased also in disorders of autophagy (Vici syndrome, Yunis-Varon syndrome, and Danon disease) presenting cardiomuscular involvement with glycogen storage. Overall, results showed a clear separation between patients and controls, both in urine and in DUS. CONCLUSION: This new UHPLC/MS-MS method, which is suitable for rapid and easy screening of OS in urine and DUS, expands the detection of storage disorders from oligosaccharidoses to other diseases, including the novel category of inherited disorders of autophagy.

Septic Arthritis due to Sneathia Sanguinegens in a Male. First Case Described in the Scientific Literature. / Artritis séptica por Sneathia sanguinegens en un varón. Primer caso descrito en la literatura científica.

An 88-year-old male admitted with septic shoulder arthritis due to a gram-negative bacillus. The microorganism is identified by sequencing the 16 S rDNA gene as Sneathia sanguinegens. This is the first case described in the literature in a male, since so far only infections in women of childbearing age have been described.

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

BACKGROUND: Charcot-Marie-Tooth disease type 4J (CMT4J) originates from mutations in the FIG4 gene and leads to distal muscle weakness. Two null alleles of FIG4 cause Yunis Varón syndrome with severe central nervous system involvement, cleidocranial dysmorphism, absent thumbs and halluces and early death. OBJECTIVES: To analyse the phenotypic spectrum of FIG4-related disease and explore effects of residual FIG4 protein. METHODS: Phenotyping of five new patients with FIG4-related disease. Western Blot analyses of FIG4 from patient fibroblasts. RESULTS: Next generation sequencing revealed compound heterozygous variants in FIG4 in five patients. All five patients presented with peripheral neuropathy, various degree of dysmorphism and a central nervous system involvement comprising Parkinsonism in 3/5 patients, cerebellar ataxia (1/5), spasticity of lower limbs (1/5), epilepsy (1/5) and/or cognitive deficits (2/5). Onset varied between the first and the seventh decade. There was no residual FIG4 protein detectable in fibroblasts of the four analysed patients. CONCLUSION: This study extends the phenotypic spectrum of FIG4-related disease to Parkinsonism as a feature and demonstrates new phenotypes on a continuum between CMT4J and Yunis Varón syndrome.

The effect of modifiable lifestyle factors on semen quality.

INTRODUCTION AND OBJECTIVES: To examine the association between lifestyle factors (body mass index, smoking, alcohol consumption, coffee intake, physical activity, sauna and cell phone usage, wearing tight-fitting underwear), and conventional semen parameters. MATERIALS AND METHODS: 1311 participants who attended the Andrology Clinic were included in the study. All participants were separated into two groups as men with normozoospermia and dysspermia. All participants answered a questionnaire which contains questions about the modifiable lifestyle factors. The total risk scores were calculated after all the positive lifestyle factors had been counted. RESULTS: Men with normozoospermia and dysspermia consisted of 852 (65.0%) and 459 (35.0%) participants respectively. A negative relationship between the wearing of tight underwear and having normal semen parameters was detected between the two groups (p=0.004). While going to a sauna regularly was negatively related to semen concentration, wearing tight underwear was also related to both lower motility, normal morphology as well as semen concentration (p<0.05). While the total score of all participants was 5.22±1.34 point, there were no statistical differences between the two groups (p=0.332). It was found that having 3 more or fewer points was not related to any type of semen parameters and results of a spermiogram. CONCLUSION: The clinicians should give advice to infertile male patients about changing their risky lifestyle, for infertility, to a healthy lifestyle for fertility. Better designed studies, with larger sample sizes using conventional semen analysis with sperm DNA analysis methods, should be planned to identify the possible effects of lifestyle factors on semen quality.

Cáncer de mama en varón / Male breast cancer

El cáncer de mama en el hombre es una patología infrecuente, representan menos del 1 % de los cánceres de mama diagnosticados, por lo cual la información científica disponible se limita a casos aislados. Presentamos el caso de un paciente de 53 años que acude a consulta por tumoración en mama izquierda de 2 años de evolución, no doloroso, que alcanza 6 cm. Los estudios de imágenes solicitados informan que se trata de un quiste complejo. Por la alta sospecha de tratarse de una patología neoplásica maligna se realiza mastectomía cuyo resultado de anatomía patológica confirma un carcinoma intraquistico de 65 mm con componente infiltrante de 4 mm. En el vaciamiento ganglionar no se identifican metástasis. En la literatura se cita como el subtipo más representativo el carcinoma ductal infiltrante. Se siguen los mismos criterios diagnósticos y terapéuticos que en la patología mamaria femenina.

Breast cancer in men is an uncommon pathology, representing less than 1 % of diagnosed breast cancers, so the available scientific information is limited to isolated cases. We present the case of a 53-year-old patient who comes to a consultation for a tumor in the left breast of 2 years of evolution, not painful, that reaches 6 cm. The requested imaging studies report that it is a complex cyst. Due to the high suspicion of being a malignant neoplastic pathology, a mastectomy is performed whose pathological anatomy confirms a 65 mm intracystic carcinoma with a 4 mm infiltrating component. In lymph node emptying, no metastases are identified. In the literature the infiltrating ductal carcinoma is cited as the most representative subtype. The same diagnostic and therapeutic criteria as in female breast pathology are followed.

Is inguinal hernia a risk factor for varicocele in the young male population? / ¿Es la hernia inguinal un factor de riesgo para varicocele en el varón joven?

OBJECTIVES: The aim of this study is to investigate the role of the inguinal hernia over the development of varicocele, in cases with accompanying inguinal hernia. METHODS: The continuous variables were calculated from mean and standard deviation, and intermittent variables were calculated over percentage and frequency. Normality testing was performed on continuous variables using the Kolmogorov-Smirnov test. Univariate analyses were performed using the unpaired Mann-Whitney U test and Chi-squared test was used for proportions. Kendall's tau-b correlation coefficient was used for correlition coefficient. Logistic regression modeling were used to identify the impact of inguinal hernias on selected cases. The data were analyzed with SPSS™ for Windows 22 (SPSS,Chicago, IL). RESULTS: Twelve cases (23.1%) in the inguinal hernia group also had varicocele, which was relatively high, whereas 12 cases with inguinal hernia in the varicocele group corresponded to only were 4.02% (12/52 (23.1%) vs 12/298 (4.02%) ). On the other hand, as a result of the binary logistic regression, we found statistically significant difference in the probability of being diagnosed varicocele among the patients with inguinal hernia as 1.94 times. CONCLUSIONS: We think that in addition to the direct compression of some of the inguinal hernias on testicular veins, the potential for a combination of common enzymatic and biochemical disorders in some of the cases involving these two disorders may be play role.

OBJETIVOS: La finalidad de este estudio es investigar el rol de la hernia inguinal respecto al desarrollo de varicocele, en casos con acompañamiento de hernia inguinal.MÉTODOS: Las variables continuas fueron calculadas a partir de media y desviación standard, y las variables discontinuas se calcularon con porcentaje y frecuencia. Se desarrollaron pruebas de normalidad para variables continuas utilizando el test de Kolmogorov-Smirnov. Se realizó análisis univariante usando el test U de Mann-Whitney sin emparejamiento y para proporciones y utilizó el test de Chi cuadrado. Se aplicó el coeficiente de correlación tau-b de Kendall para los coeficientes de correlación. Se usaron modelos de regresión logística para identificar el impacto de la hernia inguinal en casos seleccionados. La información fue analizada con SPSS™ 22 para Windows (SPSS, Chicago, IL). RESULTADOS: Doce casos (23,1%) en el grupo de hernia inguinal tenían también varicocele, incidencia relativamente alta, mientras que solo había 12 casos con hernia inguinal en el grupo de varicocele, que correspondían a un 4,02 % [12/52 (23,1%) vs 12/298 (4,02%)]. Por otro lado, como resultado de la regresión logística binaria, descubrimos una diferencia estadísticamente significativa en la probabilidad de ser diagnosticado varicocele en los pacientes con hernia inguinal (1,94 veces). CONCLUSIONES: Pensamos que además de la compresión directa de algunas de las hernias inguinales de las venas testiculares, el potencial para una combinación de alteraciones comunes enzimáticas y bioquímicas en algunos de los casos, implicando estas dos anomalías, podría desempeñar un papel importante/clave.

[Mortality in a cohort of men with fragility hip fracture in a health area: Associated factors]. / Mortalidad de una cohorte de hombres con fractura de cadera por fragilidad en un sector sanitario: factores asociados.

BACKGROUND: A quarter of the patients with fragility hip fracture (FHF) are men, and they have higher mortality rates than women. The objective of this study is to analyse the mortality, as well as associated factors, due to FHF in men aged ≥65years, while in hospital and at one and three years of follow-up. MATERIAL AND METHODS: An analytical observational study was conducted on a historical cohort of 182 male patients equal or older than 65 years that were admitted to an Orthopaedic Surgery and Traumatology (OST) Department between January 2009 and December 2014. RESULTS: Within-hospital mortality was 10.9% (6% in the OST Department, and 8.6% in a Social-Health centre). A relationship (P=.039) was found between within-hospital mortality and age. A total of 20 patients died during their stay in both units, 42 (25.9%) died one year later, and 95 (58.6%) died three years later. Dementia/cognitive impairment was associated with a relative risk of one-year mortality of 2.2, and 1.6 of three-year mortality. An association was observed between age and mortality and between Barthel Index at baseline and mortality at both periods. The most frequent causes of death were cardiovascular (15.7%) and tumours (13.6%). CONCLUSIONS: Male patients with FHF showed high mortality rates in hospital, and at one-year and three-years follow-up. The most important risk factor of mortality was dementia/cognitive deterioration at one year, and high blood pressure at three years.

Análisis clínico y citogenético de un caso de trastorno del desarrollo sexual testicular XX con SRY negativo / Clinical and Cytogenetic Analysis of a Case of SRY-Negative XX Testicular Disorder of Sex Development / Análise clínica e citogenética de um caso de transtorno do desenvolvimento sexual testicular XX com SRY-negativo

Resumen: El trastorno del desarrollo sexual (TDS) testicular XX es una patología que se presenta en un individuo con cariotipo 46,XX con un fenotipo anatómico de genitales externos masculinos, que pueden variar desde la normalidad hasta la ambigüedad genital. Clínicamente se han descrito dos subgrupos de hombres 46,XX con SRY-negativos y SRY-positivos, dependiendo de la presencia o no del gen SRY que normalmente se encuentra en el cromosoma Y participando en la determinación testicular. En este artículo se describen los antecedentes personales y los hallazgos clínicos de un infante con anomalías del meato urinario en el cual se identificó un complemento cromosómico 46,XX. También, se realizó hibridación in situ fluorescente en linfocitos de sangre periférica que demostró la ausencia del gen SRY y confirmó la presencia de dos cromosomas X.

Abstract XX testicular disorder of sex development (DSD) is a pathology that occurs in an individual with a 46,XX karyotype and an anatomical phenotype of male external genitalia, which may vary from normal to ambiguous. Clinically, two subgroups of SRY-negative and SRY-positive, 46, XX men have been described, depending on the presence of the SRY gene that is normally found on the Y chromosome participating in testicular determination. This article describes the personal history and clinical findings of an infant with urethral meatus abnormalities in whom a 46,XX chromosome set was identified. Also, fluorescent in situ hybridization was performed in peripheral blood lymphocytes which demonstrated the absence of the SRY gene and confirmed the presence of two X chromosomes.

Resumo: O transtorno do desenvolvimento sexual (TDS) testicular XX é uma patologia apresentada em um indivíduo com cariótipo 46,XX com um fenótipo anatômico de genitais externos masculinos, que podem variar da normalidade à ambiguidade genital. Clinicamente, são descritos dois subgrupos de homens 46,XX com SRY-negativos e SRY-positivos, dependendo da presença ou não do gene SRY que normalmente se encontra em Y cromossomo participando da determinação testicular. Neste artigo, são descritos os antecedentes pessoais e os achados clínicos de uma criança com anomalias de meato urinário em que foi identificado um complemento cromossômico 46,XX. Além disso, foi rea -lizada hibridação in situ fluorescente em linfócitos de sangue periférico que demonstrou a ausência do gene SRY e confirmou a presença de dois cromossomos X.

Yunis-Varon Syndrome.

Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report a neonate born to consanguineously married normal parents with typical clinical and radiologic features of Yunis-Varon syndrome along with complete cleft lip and palate: an infrequent association. The family had two previous babies with similar features who died in infancy. This is a first reported case of Yunis-Varon syndrome in Pakistan.

The early biopsychosocial development of boys and the origins of violence in males.

We apply a biopsychosocial approach to introduce early-in-life experiences that explain a significant part of the male preponderance in the perpetration of violence. Early caregiver abuse and neglect, father absence, and exposure to family and neighborhood violence exacerbate boys' greater risk for aggressive behavior and increase the probability of carrying out violent acts later in life. We examine the development of the psychological self and explore conditions that encourage physical aggression, focusing on the impact on the infant and toddler's emergent mental representation of self, others, and self-other relationships. Boys' slower developmental timetable in the first years of life may enhance their vulnerability for disorganization in emergent neurobiological networks mediating organization of socioemotional relationships. Emergent attachment and activation relationship systems may differentially affect risk and resilience in boys and girls, particularly in single-parent families. Evidence has suggested that the dramatic increase in single-parent families is especially linked to corresponding increases in behavioral undercontrol, antisocial behavior, and the emergence of violence in boys.

Perfil de seguridad a corto plazo de la terapia hormonal cruzada en trans-varones / Short-term safety profile of cross-hormonal therapy in trans-male subjects

Se denomina trans-varón (TV) a una persona de sexo biológico femenino con identidad de género masculino. Para adquirir caracteres sexuales y expresar un rol social semejante podría utilizarse: terapia hormonal cruzada (THC) y/o genitoplastia masculinizante. Se evaluó el perfil de seguridad a corto plazo (primer año) de la THC con las distintas formas farmacéuticas de testosterona disponibles en nuestro país. El estudio se realizó de manera retrospectiva, analizando las historias clínicas de 30 pacientes trans-varón que cumplían con los requisitos para ser incluidos. La edad media de la población fue de 27 años. La media basal de testosterona fue de 0.43 ng/ml, que luego aumentó a 6.36 ng/ml (valores normales para sexo masculino). El hematocrito incrementó de su valor basal 40.0 a 45.2% (p < 0.01) mientras la Hb de 13.6 a 15.2 g/dl (p < 0.01). El colesterol total se mantuvo estable con valores de 175 y 185 mg/dl (p = 0.81). No hubo cambios significativos en triglicéridos: 88.3 y 102 mg/dl (p = 0.08). El colesterol LDL incrementó en los primeros 6 a 12 meses de THC de 101.2 a 112.5 mg/dl (p = 0.17). A los 12 meses los niveles de colesterol HDL aumentaron de 50.1 a 52.0 mg/ dl (p < 0.01). Las enzimas hepáticas se mantuvieron estables. No existen datos en nuestro país sobre seguridad de la testosterona en TV. No tuvimos necesidad de suspender la medicación por efectos no deseados en los parámetros estudiados.

A trans-male (TM) is a biologically female person with male gender identity who wishes to acquire male sexual characteristics and fulfil a male social role. To achieve that purpose, both cross-hormonal therapy (CHT) and surgical phalloplasty can be used. We evaluated the short term (12 months) safety profile of CHT using different forms of testosterone available for prescription in Argentina. In this retrospective study, we analyzed the medical history of 30 trans-male patients fitting the inclusion criteria. The mean age of the population was 27 years. The mean basal serum level of testosterone was 0.43 ng/ml, which increased to 6.36 ng/ml (male hormonal levels). The hematocrit increased from a baseline of 40.0 to 45.2% (p < 0.01) and hemoglobin increased from 13.6 to 15.2 g/dl (p < 0.01). Total cholesterol remained stable with values of 175 and 185 mg/dl (p = 0.81). There were no significant changes in serum triglycerides: 88.3 and 102 mg/dl (p = 0.08). LDL increased in the first 6 to 12 months of CHT from 101.2 to 112.5 mg/dl (p = 0.17). At 12 months HDL levels increased from 50.1 to 52 mg/dl (p < 0.01). Hepatic enzymes remained stable. There is no available data regarding safety of testosterone use in TM in our country. In no case did we need to suspend the medication due to unwanted effects.

Diagnosis and treatment of male patients with lower urinary tract symptoms in Spain - The MERCURY Study. Do urologists follow the recommendations of the European guidelines? / Diagnóstico y tratamiento del paciente varón con síntomas del tracto urinario inferior en España - Estudio MERCURY. ¿Seguimos los urólogos las recomendaciones de las guías europeas?

OBJECTIVES: To explore the management of lower urinary tract symptoms (LUTS) in men in Spain and assess the compliance with recommendations established in the European Association of Urology (EAU) guidelines. MATERIAL AND METHODS: MERCURY was an epidemiological and cross-sectional study which involved 227 Urology Units across Spain assessing adult male patients with mixed LUTS and persisting storage symptoms. Sociodemographic, clinical and resource use data for the 6 months prior to study inclusion were collected. Additionally, through a theoretical clinical case, clinicians described their attitude toward the diagnostic and therapeutic management of males with mixed LUTS and persisting storage symptoms during the first and second visits. Answer options given to clinicians about LUTS management were aligned with those recommended by EAU guidelines. RESULT: 610 patients included in the study were evaluated. 87.7% of them consumed some health resource mainly due to: urologist visits (79.7%), PSA determination (76.6%) and treatment with alpha-blockers (37.5%) and alpha-blockers plus antimuscarinics (37.2%). According to the theoretical clinical case, urologists preference toward diagnostic tools and pharmacological treatment in first visit were mainly PSA determination (97.7%), digital rectal examination (91.4%) and treatment with alphablockers as monotherapy (56.6%), whereas in the second visit uroflowmetry (48.9%), voiding diary (40.3%) and treatment with alpha-blockers plus antimuscarinics (70.6%) were mainly preferred. CONCLUSIONS: Urologists attitude toward management of male patients with mixed LUTS and persisting storage symptoms is aligned with that recommended in the EAU guidelines.