The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.The relationship between a defective HPSE2 gene and Ochoa syndrome is unclear. There is postulation that the genetic changes may lead to an abnormality in the brain region, evidence for this postulation is that the areas of the brain that control facial expression and urination are in close proximity of each other. Other hypotheses think that the defective heparanase 2 protein may lead to problems with development of the urinary tract or with muscle function in the face and bladder. Diagnosis
Treatment
The treatment varies based on the condition and extent of the uropathy. To empty the bladder regularly, clean intermittent catheterization (CIC) can be used. If the urodynamic study shows non-inhibited detrusor contractions, an anticholinergic drug should be given additionally. To prevent recurrent infections, especially in the case of vesicoureteral reflux, the treatment can also include an antibiotic prophylaxis. Epidemiology
Urofacial (Ochoa) syndrome received the Ochoa name because of the first person to describe it in 1987, Bernardo Ochoa. References


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Trimester or Trimestre may refer to:

Academic term, a trimester system divides the academic year into three terms
Pregnancy § Trimesters in humans, where the time of pregnancy is divided into three terms of 13 weeks to refer to the fetuss development
The trimester framework in Roe v. Wade, which organized constitutional issues in abortion law according to trimesters
A period of three months (Latin tri +mensis=month or moon) In Europe, where financial years start on 1 January each year, often Jan+Feb+Mar etc. See also
Semester
Term (disambiguation)