Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Lynch syndrome (LS) is associated with the highest risk of colorectal (CRC) and several extracolonic cancers. In our effort to characterize LS families from Latin America, this study aimed to describe the spectrum of neoplasms and cancer risk by gender, age and gene, and survival in 34 Chilean LS families. Of them, 59% harbored , 23% , 12% and 6% variants.

Numerical validation of a subject-specific parameter identification approach of a quadriceps femoris EMG-driven model.

Muscle models can be used to estimate muscle forces in motor tasks. Muscle model parameters can be estimated by optimizing cost functions based on error between measured and model-estimated joint torques. This paper is a numerical simulation study addressing whether this approach can accurately identify the parameters of the quadriceps femoris.

Reversal of the Hartmann's procedure: A comparative study of laparoscopic versus open surgery.

Background: The Hartmann's operation, although less frequently performed today, is still used when initial colonic anastomosis is too risky in the short term. However, the subsequent procedure to restore gastrointestinal continuity is associated with significant morbidity and mortality.

Patients And Methods: The review of an institutional review board (IRB)-approved prospectively maintained database provided data on the Hartmann's reversal procedure performed by either laparoscopic or open technique at our institution.

[Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis].

Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia.

Characterization of the novel ST2/IL-33 system in patients with inflammatory bowel disease.

Background: ST2 has been proposed to be a regulator of inflammation and Th1/Th2 balance. ST2L is the IL-33 membrane receptor and belongs to the IL-1R family. The soluble variant, ST2s, is identical to the extracellular region of ST2L and competes for IL-33 binding, inhibiting receptor signaling.