R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.

BACKGROUND: Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders. This is the first report of related individuals possessing the R248G missense cystic fibrosis transmembrane conductance regulator mutation and we present their associated clinical histories. CASE PRESENTATION: All three patients are of Spanish descent. Deoxyribonucleic acid analysis revealed that all three siblings possessed a novel c.742A>G mutation, resulting in a p.Arg248Gly (R248G) amino acid change in exon 6 in trans with the known N1303K mutant allele. Case 1 patient is a 39-year-old infertile man presenting with congenital unilateral absence of the vas deferens and recurrent episodes of epigastric pain. Case 2 patient is a 32-year-old woman presenting with periods of infertility, two previous spontaneous abortions, recurrent epigastric pain, and recurrent pancreatitis. Case 3 patient is a 29-year-old woman presenting with recurrent pancreatitis and epigastric pain. CONCLUSIONS: We report the genotype-phenotype correlations and clinical manifestations of a novel R248G cystic fibrosis transmembrane conductance regulator mutation: congenital unilateral absence of the vas deferens in males, reduced female fertility, and recurrent acute pancreatitis. In addition, we discuss the possible functional consequences of the mutations at the molecular level.

Conservative management is a reasonable option in intraperitoneal bladder rupture.

OBJECTIVE: To demonstrate that conservative management of intraperitoneal bladder rupture is a safe option. METHOD: We report two cases of intraperitoneal bladder rupture, one spontaneous and another after urological manipulation. A 28-year-old man with acute abdomen after a heavy alcohol intake, and an 83-year-old woman with abdominal distention after a transurethral resection of the bladder. RESULT: Both cases were treated with intraperitoneal fluid evacuation and maintenance of urinary catheter without incidents. CONCLUSIONS: Conservative management with drainage of ascites in combination with a radiological studies and optimal antibiotic treatment can prevent more invasive maneuvers such as exploratory laparotomy or laparoscopy.

El manejo conservador de la rotura vesical intraperitoneal es una opción razonable / Conservative Management is a Reasonable Option in Intraperitoneal Bladder Rupture

OBJETIVO: Demostrar que el manejo conservador de la rotura vesical intraperitoneal es una opción segura. MÉTODO: Presentamos dos casos de rotura vesical intraperitoneal, uno espontáneo y otro tras manipulación urológica. Un varón de 28 años de edad con abdomen agudo tras una ingesta abundante de alcohol y una mujer de 83 años con distensión abdominal tras una resección transuretral vesical. RESULTADO: Ambos casos se trataron con evacuación del líquido intraperitoneal y mantenimiento de sonda vesical sin incidencias. CONCLUSIONES: El manejo conservador con drenaje de la ascitis en combinación con un estudio radiológico óptimo y tratamiento antibiótico puede evitar maniobras más invasivas como la laparotomía o la laparoscopia exploradoras

OBJECTIVE: To demonstrate that conservative management of intraperitoneal bladder rupture is a safe option. METHOD: We report two cases of intraperitoneal bladder rupture, one spontaneous and another after urological manipulation. A 28-year-old man with acute abdomen after a heavy alcohol intake, and an 83-year-old woman with abdominal distention after a transurethral resection of the bladder. RESULTS: Both cases were treated with intraperitoneal fluid evacuation and maintenance of urinary catheter without incidents. CONCLUSIONS: Conservative management with drainage of ascites in combination with a radiological studies and optimal antibiotic treatment can prevent more invasive maneuvers such as exploratory laparotomy or laparoscopy

[Hand-assisted laparoscopic radical nephrectomy vs. open nephrectomy in the treatment of clinically localized renal cell carcinoma. Comparative study]. / Nefrectomía radical laparoscópica asistida por la mano frente a nefrectomía abierta en el tratamiento del carcinoma de células renales clínicamente localizado. Estudio comparativo.

INTRODUCTION: The description of the first laparoscopic nephrectomy made a revolution in the managing of the benign and malignant renal diseases. Hand-assisted laparoscopy (HAL) was developed with the aim of offering advantages to both patients and surgeons. The aim of the present work is to compare, in our experience, the results offered in the radical nephrectomy by HAL and open surgery, by analysis of surgical time, estimated blood loss during surgery and hospital stay. METHODS: Eleven Hand-assisted laparoscopic (HAL) radical nephrectomies and eight open radical nephrectomies were carried out at our institution during the same period (June 2001 to December 2002). All patients underwent computed tomography and were found to have a clinically localised functioning renal mass in all cases. The size of this renal mass was 4-7 cm (average 5.5 cm) in the HAL group and 4.5-15 cm (average 7.8 cm) in the open group. Patient age, body mass index, and American Society of Anaesthesiologists' score showed no significant difference between groups. RESULTS: The average surgical time in the HAL group was 156.72 minutes, the average blood loss during surgery was of 83.6 ml and the average hospital stay was of 3.09 days. Conversion to open surgery was not necessary in any patient. Average surgical time in the open surgery group was 178.25 minutes, the estimated blood loss during surgery was of 337.75 ml (p < 0.05) and the hospital stay was of 5.37 days (p < 0.05). The comparison of the means by two-tailed student's t test revealed significant differences in estimated blood loss and hospital stay, favoring HAL, and no significant differences in surgical time. CONCLUSIONS: HAL nephrectomy is feasible in almost all nephrectomies and is a safe, reproducible, and minimally invasive technique to perform extirpable renal surgery. HAL offer clear advantages over traditional open surgery, including decreased blood loss and hospital stay.

[Fatal evolution of a renal angiosarcoma]. / Evolución fatal de angiosarcoma renal.

OBJECTIVES: Report a new case of renal angiosarcoma treated by surgery and adjuvant chemotherapy with bad results. METHODS: 72-year-old male undergoing right nephrectomy for renal tumor. Pathology reports renal angiosarcoma. RESULTS: Three months after surgery patient refers lumbar pain and hemoptysis and CT scan reveals the existence of multiple bone and lung metastasis; a regimen of systemic chemotherapy with Doxorrubicine+ Ifosfamide was started without response; he died two months later. CONCLUSIONS: Primary renal angiosarcoma is very rare, with less than 10 cases in the literature before 1998, and it is always associated with bad prognosis. Diagnosis is based on immunohistochemical studies (antibodies against CD31, CD34 and factor VIII related antigen) to define the endothelial differentiation of the tumor. There is no experience to define the best therapeutic strategy against this entity.

Urograma en resonancia magnética como alternativa a la urografía I.V.A propósito de tres casos. Revisión de la literatura / MRI urography as an alternative to intravenous urography: report of three cases. Bibliographic review

OBJETIVOS: La urografía intravenosa ha sido considerada clásicamente como una exploración imprescindible en una gran mayoría de patologías urológicas debido a la mayor información que aporta tanto desde el punto de vista funcional como morfológico, sobretodo en alteraciones ureterales donde otras exploraciones no alcanzan suficiente definición. Sin embargo, existen casos en los que no es posible realizar una urografía intravenosa debido a procesos alérgicos al contraste yodado o insuficiencia renal con imposibilidad de eliminación del contraste. MÉTODOS: Se presentan tres casos, que representan el ejemplo de las indicaciones de urograma en RM como alternativa a la urografía i.v. en casos en los que ésta no se puede o no se debe realizar. RESULTADOS: El urograma en R.M.N. está totalmente aceptado como técnica de diagnóstico en patología urológica como procedimiento alternativo a la urografía I.V. Tienes ventajas, tales como, el obtener imágenes en múltiples planos, no usar radiación ionizante, no existen evidencias de que cause daño celular, no precisa de eliminación glomerular de ninguna sustancia por lo que puede ser usado en enfermos con insuficiencia renal y en alérgicos al contraste iodado. CONCLUSIONES: El uso del urograma en R.M.N. supone una ventaja en enfermos con insuficiencia renal, alergia al contraste iodado o mayor riesgo de nefrotoxicidad del mismo, como es el caso de los trasplantados renales (AU)

[Magnetic resonance urogram as alternative to i.v. urography. Report of 3 cases. Review of the literature]. / Urograma en resonancia magnética como alternativa a la urografia i.v. A propósito de tres casos. Revisión de la literatura.

OBJECTIVES: Intravenous urography (IVU) has been classically considered as an essential examination in the great majority of urologic diseases due to the great amount of information that supplies both functional and morphological, mainly for ureteral abnormalities where other exams do not reach enough definition. Nevertheless, there are cases in which it is not possible to perform an intravenous urography due to allergy to iodine contrasts or renal failure with impossibility of contrast excretion. METHODS: We report three cases which represent the example of the indications of MRI urography as an alternative to IVU in cases in which this latter cannot or should not be performed. RESULTS: MRI urography is completely accepted as a diagnostic technique for urologic diseases as an alternative to IVU. It has advantages, such as obtaining images in multiple planes, avoiding the use of ionizing radiation, that there is no evidence of it causing cell damage, that it does not require glomerular elimination of any substance so it can be used in patients with renal failure and allergy to iodine contrasts. CONCLUSIONS: The use of MRI urography results in an advantage for patients with renal failure, iodine contrasts allergy, or greater risk of contrast nephrotoxicity as it is the case of renal transplant patients.

Siringocele simple de la glándula de Cowper / Simple syringocele of Cowper's glands

OBJETIVOS: La presentación de un nuevo caso de siringocele simple de la glándula de Cowper y realizar una completa revisión de la bibliografía. MÉTODOS: Descripción del nuevo caso clínico y revisión bibliográfica de los últimos 10 años. RESULTADOS Y CONCLUSIONES: El tratamiento más comúnmente empleado es la marsupialización a uretra por vía endoscópica, tratamiento al que fue sometido nuestro paciente con resultados satisfactorios (AU)

Pólipo fibroepitelial gigante del uréter / Giant fibroepithelial polyip of the ureter

OBJETIVO: El pólipo fibroepitelial del uréter es una patología benigna de baja incidencia. Aportamos un nuevo caso con revisión de la literatura, y realizamos una valoración de las exploraciones complementarias a realizar y las posibilidades terapéuticas. MÉTODO: Se presenta el caso de un joven con anulación funcional de riñón izquierdo por la presencia en el interior del uréter de un pólipo fibroepitelial benigno gigante. Se analizan las distintas exploraciones realizadas y las posibilidades terapéuticas. RESULTADOS: Tras el diagnóstico de uropatía obstructiva con pérdida de la unidad renal izquierda, el paciente fue sometido a nefroureterectomía izquierda encontrando la gran formación polipoidea. CONCLUSIONES: Se trata de una patología benigna, de fácil diagnóstico con las exploraciones endoscópicas que disponemos en la actualidad. En el caso de no producir una anulación funcional El pronóstico de los pacientes con carcinoma de células escamosas no es favorable, con una supervivencia a los 5 años de un 57 por ciento (5). irrecuperable de la unidad renal, el tratamiento endoscópico debe ser la primera opción terapéutica (AU)

Carcinoma basocelular de pene / Basal cell carcinoma of the penis

OBJETIVO: Dar a conocer una lesión muy poco frecuente que puede afectar al aparato genital masculino. MÉTODO: Se presenta el único caso acontecido en nuestro servicio, realizando una revisión de la literatura. RESULTADO Y CONCLUSIONES: El carcinoma basocelularde pene es una patología excepcional. Hasta la fecha hay 20 casos publicados. No se han documentado fidedignamente ningún caso de metástasis a distancia. Su diagnóstico macroscópico puede resultar muy difícil por el gran polimorfismo de estas lesiones, requiriendo del estudio histológico para su confirmación (AU)