In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (<22 bp) and point mutations were identified in 83/103 (88%) patients, including 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the frequencies of major and minor alterations found in our sample are in accordance with those described in the literature.

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The early detection of congenital anomaly epidemics occurs when comparing current with previous frequencies in the same population. The success of epidemiologic surveillance depends on numerous factors, including the accuracy of the rates available in the base period, wide population coverage, and short periodicity of analysis. This study aims to describe the Latin American network of congenital malformation surveillance: ReLAMC, created to increase epidemiologic surveillance in Latin America. We describe the main steps, tasks, strategies used, and preliminary results. From 2017 to 2019, five national registries (Argentina [RENAC], Brazil [SINASC/SIM‐BRS], Chile [RENACH], Costa Rica [CREC], Paraguay [RENADECOPY‐PNPDC]), six regional registries (Bogotá [PVSDC‐Bogota], Cali [PVSDC‐Cali], Maule [RRMC SSM], Nicaragua [SVDC], Nuevo‐León [ReDeCon HU], São Paulo [SINASC/SIM‐MSP]) and the ECLAMC hospital network sent data to ReLAMC on a total population of 9,152,674 births, with a total of 101,749 malformed newborns (1.1%; 95% CI 1.10–1.12). Of the 9,000,651 births in countries covering both live and stillbirths, 88,881 were stillborn (0.99%; 95% CI 0.98–0.99), and among stillborns, 6,755 were malformed (7.61%; 95% CI 7.44–7.79). The microcephaly rate was 2.45 per 10,000 births (95% CI 2.35–2.55), hydrocephaly 3.03 (2.92–3.14), spina bifida 2.89 (2.78–3.00), congenital heart defects 15.53 (15.27–15.79), cleft lip 2.02 (1.93–2.11), cleft palate and lip 2.77 (2.66–2.88), talipes 2.56 (2.46–2.67), conjoined twins 0.16 (0.14–0.19), and Down syndrome 5.33 (5.18–5.48). Each congenital anomaly showed heterogeneity in prevalence rates among registries. The harmonization of data in relation to operational differences between registries is the next step in developing the common ReLAMC database.

Introducción: Fibrosis quística (FQ) patología genética, autosómica recesiva por mutaciones en el gen de la proteína reguladora de la conductancia transmembrana (CFTR cystic fibrosis transmembrane regulator). En una enfermedad multisistémica, afecta el aparato respiratorio, sistema digestivo, glándulas sudoríparas y conducto deferente. En Paraguay la detección, diagnóstico y tratamiento es obligatoria y gratuita para todo recién nacidos (RN). El tamizaje neonatal es realizado a través del dosaje de la tripsinainmuno reactiva (TIR) y la confirmación diagnóstica con el test del sudor. Objetivo: Reportar la incidencia de la FQ en la población de RN de Paraguay. Materiales y Métodos: Es un trabajo descriptivo, retrospectivo de corte trasversal, donde se analizaron los datos del Programa Nacional de Detección Neonatal (PNDN), de enero del 2015 a diciembre del 2017, para el análisis de la base de datos se utilizó una planilla Excel. Resultados: En el 2015 un 91% (79.093/87.181) de las muestras ingresadas al Programa reunieron los criterios (edad y calidad de la muestra) para el estudio de la TIR, arrojando una incidencia de 1 en 6.591 RN. Para el 2016, esto correspondió a un 97% (83.525/86.094) con una incidencia de 1 en 4.176 RN y por último en el 2017, se tuvo un 97% (87.075/90.037) con una incidencia de 1 en 5.112 RN. Conclusión: La incidencia de la FQ en la población de recién nacidos del Paraguay, en los tres años que abarca este estudio, no presentan entre sí diferencias significativas, tampoco con las reportadas para la población hispánica.   Correspondencia: Marta Ascurra; Correo: marta.ascurra@gmail.com   Conflicto de intereses: Los autores declaran no poseer conflicto de interés   Recibido: 03/08/2018; Aceptado: 28/12/2018

The tufted capuchin, Cebus apella is a New World Monkey (NWM) species widely used in biomedicine. Its genetic variability has been assessed through various genetic tools. The present study offers a cytogenetic characterization of two captive colonies of Paraguayan specimens, in order to increase the current information on the role of cytogenetic polymorphisms in management of captive capuchins, specially useful for those employed as biomedical models. G-banding confirms all individual as Cebus apella paraguayanus (CAPp). C-banding shows heterochromatic polymorphisms already published for this species, and a paracentric inversion of the interstitial heterochromatin of pair 12, with members of this pair remaining of equal size in all the sample. A retrospective study of C-band polymorphisms in captive CAPp individuals shows a great number of heteromorphisms, considering not only presence/absence of a particular band, but also size and amount of heterochromatin. Therefore, two types of heterochromatic heteromorphisms have been observed (distributional, with a paracentric inversion but no apparent loss of heterochromatin, and quantitative, with a drastic reduction of one homologue's band, therefore on its total size) suggesting complex chromatin rearrangements for Paraguayan populations, and supporting the idea that Cebus is, among the NWM, perhaps the best model to analyze heterochromatin behavior.

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Congenital hypothyroidism incidence in 14 sanitary regions of ParaguayCongenital hypothyroidism is one of the most common treatable causes of mental retardation, occurring in approximately 1 in 3,000 newborns. We investigated the incidence of congenital hypothyroidism in Paraguay, where iodine defi ciency disorders are considered endemic. Between October 1999 and February 2007, a total of 53,360 blood samples from 76 sampling stations in 14 of the country's 18 health regions were taken by heel prick and collected on fi lter paper. Screening was initially carried out as part of a pilot project and later as part of the program for prevention of cystic fi brosis and mental retardation. Thyroid-stimulating hormone was measured by the ELISA method, and a value of >20 UI/ml was considered the cutoff point for recall. Results were obtained in 96% (n: 52,526) of samples. Positive results were found in 0.08% (40/52,526) and congenital hypothyroidism was confi rmed in 35 cases, an incidence of 1 in 1,501 births, with a female to male ratio of 6:1. This incidence of congenital hypothyroidism is the highest yet reported in Latin America, a fact that emphasizes the importance of implementing this type of program in the fi ght to eliminate iodine defi ciency disorders. (

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