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Adult intussusception secondary to an ileum hamartoma

World Journal of gastrointestinal Oncology 2011年第6期3卷 103-106页

作者： Carlos M Nuo-guzmán josé Arróniz-Jáuregui Ismael Espejo josué Solís-Ugalde josé ignacio gómez-ontiveros Arturo Vargas-gerónimo Jesús Valle-gonzález Department of general Surgery Antiguo Hospital Civil de Guadalajara "Fray Antonio Alcalde"Calle Hospital No.278Sector Hidalgo.C.P.44280GuadalajaraJaliscoMexico Department of Histopathology Antiguo Hospital Civil de Guadalajara "Fray Antonio Alcalde"Calle Hospital No.278Sector Hidalgo.C.P.44280 GuadalajaraJaliscoMexico Department of Radiology Antiguo Hospital Civil de Guadalajara "Fray Antonio Alcalde"Calle Hospital No.278Sector Hidalgo.C.P.44280GuadalajaraJaliscoMexico

Intussusception is a rare condition in the adult ***,in contrast to its presentation in children,an identifiable etiology is found in the majority of *** manifestations of adult intussusception are non-specific and patients may present with acute,intermittent or chronic symptoms,predominantly those of intestinal obstruction.A 27-year-old male patient with recurrent abdominal pain secondary to intussusception is herein *** clinical presentation and ultrasonographic findings led to the *** laparotomy,an ileal hamartoma was found as the lead point of the *** management and histopathologic studies are described.A recurrent intestinal obstruction and classic ultrasound findings may lead to the diagnosis of intussusception but surgical exploration remains *** principle of resection without reduction is well established.

关键词： Adult intussusception Ileum hamartoma Intestinal obstruction

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Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres:A case report

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World Journal of Clinical Cases 2022年第33期10卷 12440-12446页

作者： Verónica Judith Picos-Cárdenas Saúl Armando Beltrán-ontiveros joséAlfonso Cruz-Ramos joséAlfredo Contreras-gutiérrez Eliakym Arámbula-Meraz Carla Angulo-Rojo Alma Marlene guadrón-Llanos Emir Adolfo Leal-León Dora María Cedano-Prieto Juan Pablo meza-Espinoza Laboratorio de genética Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Centro de Investigación y Docencia en Ciencias de la Salud Hospital Civil de CuliacánUniversidad Autónoma de SinaloaCuliacán 80030SinaloaMexico Departamento de Clínicas Médicas Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Facultad de Medicina Universidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de genética y Biología Molecular Facultad de Ciencias Químico-BiológicasUniversidad Autónoma de SinaloaCuliacán 80010SinaloaMexico Laboratorio de Neurociencias Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Diabetes y Comorbilidades Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Facultad de Medicina Universidad Autónoma de TamaulipasMatamoros 87349TamaulipasMexico

BACKgROUND Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia,nail dystrophy,and abnormal skin *** genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance,including *** SUMMARY Here,we report a female patient who presented thrombocytopenia,anemia,reticulate hyperpigmentation,dystrophy in fingernails and toenails,and leukoplakia on the tongue.A histopathological study of the skin showed dyskeratocytes;however,a bone marrow biopsy revealed normal cell *** patient was diagnosed with dyskeratosis congenita,but her family history did not reveal significant ***-exome sequencing showed a novel heterozygous punctual mutation in exon 6 from the TINF2 gene,namely,NM_001099274.1:-c.854delp.(Val285-Alafs*32).An analysis of telomere length showed short telomeres relative to the patient’s *** The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.

关键词： Dyskeratosis congenita TINF2 germline mutation Novel mutation Short telomeres Case report

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