Browsing by Author "Mellado, C."

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    Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
    (SOC MEDICA SANTIAGO, 2005) Cortes, F.; Alliende, A.; Barrios, A.; Curotto, B.; Santa Maria, L.; Barraza, X.; Troncoso, L.; Mellado, C.; Pardo, R.
    Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperpbagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause kof genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25% to uniparental disomy and 1016 to mutations in the imprinting center. Aim: To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. Patients and methods.. Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA. Results: Twenty three (51.1%) patients had a delection, 13 (28.9%)patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n= 11) and 11.5 points for patients older lban 3 years (n=34);for patients aged 12 months or less, the clinical Score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion. Conclusions: Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS.
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    Pai syndrome: Report of seven South American patients
    (2007) Guion-Almeida, M. L.; Mellado, C.; Beltrán, C.; Richieri-Costa, A.
    Frontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report seven South American patients and review earlier reported cases. The phenotype is clinically variable and five reported patients were severely affected. The cause of Pai syndrome is unknown to date. Several literature findings have been noted: nondiagnostic and discordant minor signs in a parent of two separate families with an affected child; discordant phenotype in monozygotic twins in one instance; and a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2) in one instance. © 2007 Wiley-Liss, Inc.
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    Wheat flour fortification with folic acid: Changes in neural tube defects rates in Chile
    (WILEY, 2012) Cortes, Fanny; Mellado, C.; Pardo, R. A.; Villarroel, L. A.; Hertrampf, E.
    In January 2000, Chilean Ministry of Health mandated the addition of folic acid (FA) to wheat flour in order to reduce the risk of neural tube defects (NTDs). This policy resulted in significant increases in serum and red cell folate in women of fertile age 1 year after fortification. To evaluate the effect of wheat flour fortification on the prevalence of NTDs in Chile we designed a prospective hospital-based surveillance program to monitor the frequency of NTDs in all births (live and stillbirths) with birth weight =500?g at the nine public maternity hospitals of Santiago, Chile from 1999 to 2009. During the pre-fortification period (19992000) the NTD rate was 17.1/10,000 births in a total of 120,566 newborns. During the post-fortification period (20012009) the NTD rate decreased to 8.6/10,000 births in a total of 489,915 newborns, which translates into a rate reduction of 50% (RR: 0.5; 95% CI: 0.420.59) for all NTDs. The rate reduction by type of NTD studied was: 50% in anencephaly (RR: 0.5; 95% CI: 0.380.67), 42% in cephalocele (RR: 0.58; 95% CI: 0.370.89), and 52% in spina bifida (RR: 0.48; 95% CI: 0.380.6). Rates showed significant reduction both in stillbirths and live births: 510.3 to 183.6/10,000 (RR?=?0.36; 95% CI: 0.250.53) and 13.3 to 7.5/10,000 (RR?=?0.56; 95% CI: 0.470.68), respectively. In Chile, fortification of wheat flour with FA has proven to be an effective strategy for the primary prevention of NTDs. (C) 2012 Wiley Periodicals, Inc.