Nuevas mutaciones asociadas a la enfermedad de Hirschsprung

Lorente-Ros, Marta; Andrés, Ane Miren; Sánchez-Galán, Alba; Amiñoso, Cinthia; García, S. García; Lapunzina, Pablo; García, Julián

doi:10.1016/j.anpedi.2019.05.019

Cited by 2 publications

(2 citation statements)

References 21 publications

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“…In this study, the incidence of short-term and long-term complications after surgery in group A was low. The reason may be related to the following transumbilical single-port laparoscopic-assisted Duhamel surgery advantages: comprehensive exploration of the abdominal cavity during the operation can accurately determine the diseased intestine; it can better preserve the vascular arch of the intestine edge, reduce the damage to the external anal sphincter, avoid excessive traction on the sigmoid colon, and reduce postoperative anastomotic leakage, the emergence of feces, and the rapid recovery of defecation function in children after surgery; the use of NOTES surgical instruments during surgery is avoided, and medical costs are reduced [ 20 , 21 ]. In fact, this point is also reflected in the levels of serum CRP and IL-6 in the two groups of children after surgery.…”

Section: Discussionmentioning

confidence: 99%

Effect of Transumbilical Single-Port Laparoscopic-Assisted Duhamel Operation on Serum CRP and IL-6 Levels in Children with Hirschsprung’s Disease

Wang

Pang

Zhang

et al. 2022

Journal of Healthcare Engineering

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Objective. To explore the clinical intervention effect of transumbilical single-port laparoscopic-assisted Duhamel operation on children with Hirschsprung’s disease (HD) and to analyze the effect of treatment on children with serum C-reactive protein (CRP) and interleukin-6 (IL-6) effects. Methods. Retrospectively select 80 children with HD who underwent surgery in our hospital from May 2017 to May 2020 as the research subjects and they are classified as group A according to the difference of the children’s surgical procedures (receiving transumbilical single-port laparoscopic-assisted Duhamel surgery, 40 cases) and group B (receiving conventional laparoscopic surgery, 40 cases), compare the perioperative period (operating time, intraoperative blood loss, surgical posthospitalization, and postoperative gastrointestinal function recovery time), early postoperative complications (perianal dermatitis, urinary retention, enterocolitis, and anastomotic leakage), and late postoperative complications (anastomotic stenosis, dirty stool, recurrence of constipation, and enterocolitis), compare the differences in the levels of CRP and IL-6 between the two groups of children before and after the operation, and conduct a 1-year follow-up of the two groups of children to compare the long-term defecation status. Results. The surgical time of children in group A, postoperative hospitalization time, and postoperative gastrointestinal function recovery time were significantly shorter than those of group B, and the differences between groups were statistically significant ( P < 0.05 ). A group of patients: the total incidence of postearly complications was 5.00% lower than 22.50% ( P < 0.05 ) in group B ( P < 0.05 ), and the total incidence of previous complications after group A of patients was 10.00% lower than 27.50% of group B ( P < 0.05 ). The two groups of serum CRP and IL-6 in two groups were not statistically significant ( P > 0.05 ), and the serum CRP and IL-6 levels of children in group A after surgery were 3 days. It is obviously lower than those in group B, and the differences between groups have statistical significance ( P < 0.05 ). At 1 month after surgery, the average bowel movement time in group A is significantly lower than those of group B ( P < 0.05 ); during the 1–12 months, the difference between the defecation frequency group of the group A and group B did not have statistically significance ( P > 0.05 ). Conclusion. Transumbilical single-port laparoscopic assistant Duhamel operation of HD has a good intervention effect, compared to traditional laparoscopic surgery, the operation time, postoperative hospitalization time, and postoperative gastrointestinal function recovery time, and also help to reduce postoperative near-long complications The incidence improves the stress reactions and long-term defecation functions in children.

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Section: Discussionmentioning

confidence: 99%

Effect of Transumbilical Single-Port Laparoscopic-Assisted Duhamel Operation on Serum CRP and IL-6 Levels in Children with Hirschsprung’s Disease

Wang

Pang

Zhang

et al. 2022

Journal of Healthcare Engineering

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“…Por lo tanto, es el primer gen que debería incluirse en el estudio genético tras diagnosticarse la EH. Lorente y col 23 reportan que de 21 casos de EH, en 17 las mutaciones en el gen RET fue el hallazgo más frecuente, asociado a otras dos nuevas modificaciones relacionadas al gen PHOX2B 23 . La importancia del estudio genético en la evaluación de la EH radica en las implicaciones terapéuticas y pronosticas, no sólo en caso de enfermedad aislada sino también en enfermedades asociadas.…”

Section: Causas Genéticas De La Enfermedad De Hirschprungunclassified

Dificultades en el diagnóstico histológico y en el tratamiento de la enfermedad de Hirschprung

More-Flores

Paico-Vílchez²

2020

spmi

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Tradicionalmente la enfermedad de Hirschsprung, se diagnostica y trata bajo el paradigma de la ausencia de plexos nerviosos submucoso y mientérico en una zona localizada del colon. El tratamiento quirúrgico consiste en la resección del colon agangliónico y la anastomosis del segmento gangliónico descendido con el ano. La revisión de los resultados a largo plazo de la cirugía, con las diversas técnicas quirúrgicas hasta hoy existentes, muestran complicaciones relacionadas a incontinencia y estreñimiento en cerca del 50 % de los casos. Muchos cirujanos piensan que esta enfermedad es aún desconocida e incluso incurable. En base a investigaciones de biología molecular, ahora se conoce que, además de la ausencia de los plexos nerviosos y de las células de Cajal en el segmento agangliónico, existe falla en la secreción de mediadores denominados purinérgicos, como el ATP y sus receptores, así como también de las sustancias nitraérgicas (óxido nítrico), que intervienen en la relajación del músculo intestinal. Por otro lado, la investigación en el campo de la genética nos ha permitido conocer el rol de las mutaciones de prooncoenes, como el RET y otros, en la génesis de la enfermedad de Hirschsprung. En el presente trabajo se hace una revisión de los conceptos arriba mencionados y se discuten las dificultades en el diagnóstico histológico de la enfermedad y se propone un enfoque racional e inteligente, encontrado en la literatura revisada.

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Nuevas mutaciones asociadas a la enfermedad de Hirschsprung

Cited by 2 publications

References 21 publications

Effect of Transumbilical Single-Port Laparoscopic-Assisted Duhamel Operation on Serum CRP and IL-6 Levels in Children with Hirschsprung’s Disease

Effect of Transumbilical Single-Port Laparoscopic-Assisted Duhamel Operation on Serum CRP and IL-6 Levels in Children with Hirschsprung’s Disease

Dificultades en el diagnóstico histológico y en el tratamiento de la enfermedad de Hirschprung

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