9 research outputs found

    Microcephaly in Colombia before the Zika outbreak: A systematic literature review

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    Introduction: Microcephaly is characterized by a smaller than normal head circumference. Recently, Zika virus (ZV) has been associated with microcephaly. Objective: To describe the prevalence of microcephaly in Colombia taking as the baseline the information from the period before the Zika virus infection epidemics. Materials and methods: We reviewed Medline, Scopus, Scielo, Lilacs and annual reports of congenital malformation monitoring systems across Latin America, among others sources, for articles published before April, 2015, reporting the prevalence of microcephaly in Colombia between 1982 and 2013. Results: We identified 32 non-duplicate articles; we selected 25 articles for revision of which 12 met the criteria for inclusion in the systematic review, including 2,808,308 births. Conclusions: The prevalence of microcephaly in Colombia from 1982 to 2013, before the introduction of ZV, ranged from 0.3 to 3.1 per 10,000 births, with an average of 1.8 (95% CI 1.7-1.8) per 10,000 births. These findings are important to determine if the prevalence after the introduction of the Zika virus infection registered significant changes

    Lipodistrofia congénita generalizada tipo 2 en la cultura Moche

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    The Moche artist are among the most outstanding plastic representatives in the central Andes during the pre-Hispanic era, within this scenario, we could analyze a sculptural ceramic piece (code C-1335) recorded in the Huaca de la Luna archaeological site in Trujillo, Perú. The vessel corresponds to two individuals with morphological characteristics that allow them to be associated with type 2 congenital generalized lipodystrophy. Considering the geographical, the physical features, and the current cases of this disease, allow us to indicate that people with generalized congenital lipodystrophy probably existed in Mochica society during pre-Hispanic times.Los artistas moches (50 y 850 años d. C.) son unos de los mayores representantes plásticos en los andes centrales durante la época prehispánica, dentro de este escenario fue posible el análisis de una pieza de cerámica registrada en el sitio arqueológico Huaca de la Luna, ubicada en Trujillo. La vasija corresponde a dos individuos con características morfológicas que permite asociarlos con el padecimiento de lipodistrofia congénita generalizada tipo 2. Considerando la zona geográfica, los rasgos físicos y los casos actuales de esta enfermedad nos permite indicar que en la sociedad Mochica probablemente existieron personas con lipodistrofia congénita generalizada

    First Case Report of Prader–Willi-Like Syndrome in Colombia

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    Background: Prader–Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11–q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome.Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1–q21.Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions

    Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

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    BackgroundMild to moderate hearing loss is common in patients with mucopolysaccharidosis (MPS) IVA. The hearing loss can be conductive, sensorineural, or mixed. However, in these patients, the mixed form is frequent, attributed to the combination of conductive and neurosensory elements, with slowly progressive evolution. Conductive hearing loss may be secondary to recurrent upper respiratory tract infections, serous otitis media, and deformities of the ear ossicles due to the accumulation of glycosaminoglycans (GAGs). Meanwhile, the sensorineural form is mainly attributed to the accumulation of GAGs in the auditory system. ObjectiveThe aim of this scoping review is to understand the extent and type of evidence in relation to the physiopathology, classification, epidemiology, and clinical management of hearing loss and the effect of therapy for hearing loss in patients with MPS IVA. MethodsThis scoping review includes participants across all genders and of no particular age group who are diagnosed with MPS IVA and develop hearing loss as a comorbidity. No exclusion criteria (country, language, or document type) will be applicable. The information sources will include experimental and quasi-experimental, analytical observational, observational, and qualitative studies. Unpublished literature will not be covered. Grey literature will be covered. A total of 2 independent reviewers will participate in the process of screening the literature, paper selection, and data extraction, and this process will be performed blindly. When all manuscripts have been selected, disagreements that arise between the 2 reviewers at each stage of the selection process will be resolved through discussion or with an additional reviewer. Results will be reported with descriptive statistics and information will be displayed in a diagrammatic or tabular manner, as explained in the JBI guidelines. ResultsThe literature search was performed in November 2021 in MEDLINE, LILACS (Literatura Latino-Americana e do Caribe em CiĂŞncias da SaĂşde), the Cochrane Library, ScienceDirect, Google Scholar, and OpenGrey; a total of 780 results were retrieved. Completion of the review is expected in mid-2022. ConclusionsThis scoping review will be the first to describe the extent of the information regarding the development of hearing loss in the MPS IVA population. The data gathered by this review may lead to an understanding of the grade of hearing loss in this population and allow for the assessment of possible interventions according to the disease pattern. International Registered Report Identifier (IRRID)PRR1-10.2196/3298

    Systemic Bevacizumab for Recurrent Respiratory Papillomatosis: A Scoping Review from 2009 to 2022

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    Background: Respiratory recurrent papillomatosis (RRP) is a fatal disease with no known cure. In severe RRP cases, systemic bevacizumab (SB) could be used as adjuvant therapy. Objective: This study aims to determine the extent and type of evidence in relation to the clinical outcomes of RRP after SB treatment. Methods: Participants with RRP of all genders are included in this scoping review. There were no exclusion criteria (country, language, or document type). The information sources included experimental, quasi-experimental, and analytical observational studies. Unpublished data will not be covered, but gray literature was covered. Screening, paper selection, and data extraction were all done by two independent reviewers. This procedure was performed blindly. Results: Of the 175 unique records found, 15 were eligible for inclusion. Fourteen studies were included after applying inclusion and exclusion criteria. Thirty-four patients in these studies came from the United States, India, Germany, Colombia, Argentina, Chile, and Spain. In total, 17 and 34 patients were below 18 years old and were adults respectively. The most commonly reported dose was 10 mg/kg, which was received by 25 (73.5%) patients. According to reports, 58.8% of patients completed the questionnaire. Twelve (35%) patients did not require a repeat surgery. The time interval between surgical procedures has increased for patients who require them. Conclusion: SB may be a promissory treatment and control option for RRP. More research is needed to evaluate the efficiency and adverse effects in various populations
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