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1.
Eur J Med Genet ; 62(3): 195-197, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30010053

RESUMEN

Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by random chromosome gains and losses. Mutations in BUB1B and CEP57 genes have been involved in MVA. Here we report on a male child with MVA due to c.915_925dupCAATGTTCAGC mutation in the CEP57 gene. Our patient was homozygous for this mutation and he is the first case with rhizomelic shortening of both the upper and lower limbs and mild respiratory insufficiency due to a narrow thorax. It is also the second MVA Mexican family reported with this mutation that lives in the northwestern region of Mexico, suggesting a "local founding effect". Additional cases are needed to better understand the MVA genotype-phenotype relationship.


Asunto(s)
Trastornos de los Cromosomas/genética , Proteínas Asociadas a Microtúbulos/genética , Proteínas Nucleares/genética , Trastornos de los Cromosomas/patología , Duplicación de Gen , Homocigoto , Humanos , Lactante , Masculino , Mosaicismo
2.
Cir Cir ; 85(3): 196-200, 2017.
Artículo en Español | MEDLINE | ID: mdl-27842760

RESUMEN

BACKGROUND: An alternative treatment for obstructive and refluxing obstructive megaureter with ureterovesical junction maintenance through laparoscopy is proposed. MATERIAL AND METHODS: The series consists of 8 cases, all of them studied because of prenatal hydronephrosis or febrile urinary tract infection. Seven were diagnosed with obstructive megaureter and one with obstructive refluxing megaureter. The procedure consisted in incising the stenotic portion of the ureter longitudinally and maintaining its posterior wall attached to the bladder, the anterior wall of the ureter was anastomosed transversally to the bladder mucosa in order to liberate the obstruction. RESULTS: Two of the 8 cases were women and 6 were male. They were aged between 5 months and 11 years (average age of 2.9 years). The surgical time varied between 90 and 120min, with a 48h hospital stay. The permanence of the vesical catheter and the double J stent was of 48h and 6 weeks, respectively. A female patient developed febrile urinary tract infection one week after the surgical procedure. The rest of the patients remained asymptomatic, with normal urinalysis and quarterly urine culture results. Six months after the procedure, the ultrasound showed improvement of the ureteral diameter and of the pyelocaliceal ectasia. The average follow-up was of 2 years. DISCUSSION: The handling of stenosis with longitudinal incision of the ureter and transverse anastomosis to the bladder mucosa, seems promising. The laparoscopic approach allows to identify clearly the longitude of the stenotic segment and join with relative precision such opening with the one of the vesical mucosa.


Asunto(s)
Laparoscopía/métodos , Uréter/cirugía , Obstrucción Ureteral/cirugía , Vejiga Urinaria/cirugía , Reflujo Vesicoureteral/complicaciones , Anastomosis Quirúrgica/métodos , Niño , Preescolar , Dilatación Patológica/complicaciones , Dilatación Patológica/cirugía , Femenino , Estudios de Seguimiento , Humanos , Hidronefrosis/complicaciones , Hidronefrosis/embriología , Lactante , Masculino , Stents , Técnicas de Sutura , Uréter/anomalías , Obstrucción Ureteral/etiología , Cateterismo Urinario , Infecciones Urinarias/complicaciones
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