phenylephrine-hydrochloride and Rectal-Diseases

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had an extensive eyelid colobomas, corneopalpebral synechiae, and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1-related disorders.

Topics: Abnormalities, Multiple; Anal Canal; Coloboma; Consanguinity; Fatal Outcome; Female; Genetic Association Studies; Humans; Hypertelorism; Infant; Infant, Newborn; Kidney Diseases; Male; Molecular Diagnostic Techniques; Mutation; Nose; Phenotype; Receptors, Interleukin; Rectal Diseases; Sequence Analysis, DNA

Two different ways have been developed to perform endoscopic surgery. The standard way is multiport laparoscopic surgery. When entering through a natural orifice, we use single-port surgery for transanal work (transanal endoscopic microsurgery). In clinical routine, we moved from intralumenal surgery toward surgery in the perirectal area and finally the free abdomen. In the context of natural orifice translumenal endoscopic surgery, we have modified the length and diameter of optics and tube and developed new mechanisms for steering long curved instruments. This technology is then used for transvaginal cholecystectomy and transanal rectosigmoid resection. Global clinical application of transanal endoscopic microsurgery has proven superiority in preciseness and clinical results for adenomas and early cancer. The initial clinical study for transvaginal cholecystectomy is successfully performed in 6 female patients with an average operation time of 80 minutes and without major complication. Feasibility of transanal rectosigmoid resection is demonstrated in an ex vivo experimental model.

Topics: Adolescent; Adult; Cholecystectomy, Laparoscopic; Colectomy; Colon, Sigmoid; Equipment Design; Feasibility Studies; Female; Follow-Up Studies; Gallstones; Humans; Laparoscopes; Microsurgery; Middle Aged; Nose; Rectal Diseases; Rectum; Retrospective Studies; Sigmoid Diseases; Treatment Outcome; Vagina; Young Adult