Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

ABSTRACT The anti-M üllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is c ryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
Source: International Braz J Urol - Category: Urology & Nephrology Source Type: research

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CONCLUSION: Laparoscopic surgery is associated with decreased odds of incisional hernias and adhesional intestinal obstructions compared with open surgery for colorectal cancer.
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Current Status Reviews Source Type: research
AbstractObjectiveThe ideal location of specimen extraction in laparoscopic-assisted colorectal surgery is still debatable.SummaryThe aim of this study was to compare the incidence of incisional hernias and surgical site infections in patients undergoing elective laparoscopic resection for recurrent sigmoid diverticulitis by performing specimen extraction through left lower transverse incision or Pfannenstiel-Kerr incision.MethodsA total of 269 patients operated between January 2014 and December 2017 were retrospectively screened for inclusion in the study. Patients with specimen extraction through left lower transverse inc...
Source: International Journal of Colorectal Disease - Category: Gastroenterology Source Type: research
AbstractBackgroundUlcerative colitis frequently requires surgery as a definitive management strategy. The colonic specimen can be extracted from various sites including a midline incision, the stoma site, or a Pfannenstiel incision. It is unclear if one extraction site offers improved outcomes and fewer complications.MethodsA retrospective review of charts obtained of colorectal surgery patients was conducted for all patients with ulcerative colitis who underwent a subtotal colectomy between 2008 and 2016 at a single tertiary care institution. Demographic data and outcomes data including parastomal and incisional hernias, ...
Source: Journal of Gastrointestinal Surgery - Category: Surgery Source Type: research
ConclusionsThis meta-analysis indicates that MPR and PHS seem comparable to LR in terms of recurrence, chronic pain, time to return to work, inguinal paresthesia, testicular and scrotal problems, hematoma, seroma and wound infection. MPR and PHS seem comparable in terms of recurrence, chronic pain and wound infection.
Source: Hernia - Category: Sports Medicine Source Type: research
ConclusionTransomental Hernias can be present in virgin abdomen also. Its presence should be considered in all suspicions of internal hernia occurrence even though they are commonly known to be associated with bariatric surgery, liver surgery, etc.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
ConclusionWe believe that mesenteric defects should be closed after laparoscopic resection of the left side of transverse colon, regardless of their size.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
ConclusionThe peritoneal flap hernioplasty is associated with few complications and a very low recurrence rate. We propose this technique as the method of choice for reconstruction of transverse abdominal incisional hernias when primary fascial apposition is not possible.
Source: Hernia - Category: Sports Medicine Source Type: research
ConclusionsAlthough repair of recurrent PEHs are historically associated with worse outcomes, in this series, RAL recurrent PEH repairs have similar peri-operative and post-operative outcomes as compared to primary PEH repairs. Whether this is secondary to the potential advantages afforded by the robotic platform deserves further study.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
Conclusion: It is important to consider mesh graft migration to viscus as a cause of persistent abdominal pain and bleeding per rectum irrespective of the time of presentation post hernia repair. PMID: 31788028 [PubMed]
Source: Patient Safety in Surgery - Category: Surgery Authors: Tags: Patient Saf Surg Source Type: research
Journal of Laparoendoscopic&Advanced Surgical Techniques, Ahead of Print.
Source: Journal of Laparoendoscopic and Advanced Surgical Techniques - Category: Surgery Authors: Source Type: research
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