RESUMEN
Abstract Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS) programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico), from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns' results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders). The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results. The most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency; and in the case of carriers, it was hemoglobinopathies. The benefit of the ENS is clear as it offers prompt treatment on the basis of an early diagnosis including proper genetic counseling. Furthermore, these results provide a good estimation of the frequencies of different forms of newborn IEM, endocrinopathies, hemoglobinopathies, and other disorders at Ginequito.
RESUMEN
BACKGROUND: The urachal cyst is a rare pathology in the adult patient and in general is asymptomatic. The goal of this presentation is to learn of the errors. CLINICAL CASE: A 22 year old female with clinical diagnosis of acute appendicitis was taken to surgical management. Laparoscopy confirmed the diagnosis. Laparoscopic appendectomy was performed uneventfully. Four weeks in the postoperative period the patient developed reddening and softening in the left surgical wound which was a trocar incision. The initial diagnosis was a granuloma which was removed surgically twice. A fistulogram and abdominal CT scan were negative. Finally, we decided to perform a laparatomy trought the same incision and we found an infected urachal cyst, which was excised. A retrospective analysis of the laparoscopic appendectomy shows the urachal cyst and the perforation by the trocars. CONCLUSION: an inadequate process in the laparoscopic vision, in the diagnosis and technical errors were the cause of this chain of errors and a major temporal damage to this patient. An optimal laparoscopy would have detected the urachal cyst and treated of the two pathologies simultaneously. An adequate trocar placement would not have perforated the urachal cyst and therefore there would have been no postoperative symptoms. Finally open appendectomy could have avoided this chain of errors.