Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.

Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the COL1A2 gene detected by exomic sequencing in amniotic fluid.

Lipodistrofia congénita generalizada tipo 2 en la cultura moche / Generalized congenital lipodystrophy type 2 in the moche culture

RESUMEN 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.

ABSTRACT 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.

Genetic and congenital disorders in pre-Hispanic Moche pottery.

The Moche were a pre-Hispanic, pre-Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present 26 pieces from 5 museums, which seem to show individuals with malformations, minor anomalies, and possible genetic syndromes. Possible diagnoses include cleft lip and palate, ocular anomalies such as hypertelorism and orbital dystopia, oligo- and polydactyly, conjoined twinning, clubfoot, Down syndrome, Crouzon syndrome, and Seckel syndrome. These ceramic portraits suggest that these people with received a certain respect or even elevated status within their society.

High prevalence of congenital generalized lipodystrophy in Piura, Peru.

Congenital generalized lipodystrophy (CGL) is an autosomal recessive rare disease, with a worldwide prevalence of around 1 in every 12 million people. There are several case reports of patients with CGL in Piura, a region in northern Peru; however its regional prevalence is unknown. The objective was to determine the prevalence of CGL in the region of Piura, Peru during the years 2000-2017. A descriptive, observational study was carried out. A search of clinical histories of patients with the diagnosis of CGL attended between 2000 and 2017 in the pediatric and endocrinology services of the reference hospitals of the department of Piura and in the genetic and endocrinology services of the "Instituto Nacional de Salud del Niño". A patient was considered to have CGL if they met the clinical criteria and or if they had a molecular diagnosis, in addition to patients with CGL from the department of Piura reported in previous publications. A total of 23 cases of CGL were found in Piura, the highest prevalence was in 2014 with 1.2 per 100,000 people, and by 2017 the prevalence was 0.86 per 100,000 people. In conclusion, the department of Piura has a high prevalence of CGL.

Desorden esquelético con malformaciones faciales en cerámico de la cultura Moche / Skeletal disorder with facial malformations in ceramic of Moche Culture

RESUMEN La cultura Moche se desarrolló entre los años 200 y 850 d. C. en la costa norte del Perú. Sus vasijas de cerámica presentan un gran nivel de detalle, alto grado de realismo y se ha podido identificar distintas malformaciones físicas en sus representaciones. Se presenta el caso del cerámico C-00122 del Museo de Historia Natural y Cultural de la Universidad Privada Antenor Orrego (MHNC-UPAO), con un cuadro de desorden esquelético asociado a malformaciones faciales, además se plantean una serie de posibles diagnósticos etiológicos.

ABSTRACT Moche is a culture that developed between 200 y 850 AD in the Peruvian northern coast. Their pottery artefacts were crafted showing many details, they were very realistic, and different physical malformations have been identified in these pieces. We present the case of the piece C-00122 that is kept in the Natural and Cultural History Museum of Universidad Privada Antenor Orrego (NCHM-UPAO), which shows a skeletal disorder associated to some facial malformations. We discuss the case and propose different likely diagnoses.

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation. This intragenic deletion appeared to be mediated by recombination between Alu sequences in introns 2 and 3. CGL2 in this population is likely underdiagnosed and undertreated because of its geographical, socio-economic, and cultural isolation.© 2016 Wiley Periodicals, Inc.

Prioridades de investigación en salud en las tesis de medicina de la Universidad Nacional de Piura, 2010-2014 / Health research priorities in medical thesis at National University of Piura, 2010-2014

Objetivo: Determinar la frecuencia de la tesis para obtener el título de médico de la Universidad Nacional de Piura (UNP), cuyo objetivo fue enmarcado dentro del PNH regional nacional y / o Piura de Perú de 2010 a 2014. Material y Métodos: Estudio transversal se llevó a cabo. Se incluyeron todas las tesis para obtener el título de médico registrado en la biblioteca de la UNP y la biblioteca especializada de la facultad de medicina humana de 2010 a 2014. De acuerdo con el objetivo de la tesis, se determinó si se relacionaba con un HRP nacional o regional. Buscamos a través de Google Académico si la tesis que se reunió con un HRP se había publicado en una revista científica. Resultados: Se encontraron 150 tesis en el periodo de estudio. Sólo 15 (10%) tesis tenían como objetivo principal un HRP nacional y 1 (0,6%) un HRP regional. Además, ninguna de las tesis había sido publicada. Conclusión: Existe una baja frecuencia de tesis médicas que se enmarcan dentro de un HRP nacional y / o regional.

Objective: To determine the frequency of thesis to obtain the medical degree at the National University of Piura (UNP) whose aim was framed within the Peru's national and/or Piura's regional HRP from 2010 to 2014. Material and Methods: A cross-sectional study was conducted. All thesis to obtain the medical degree registered at the library of the UNP and the specialized library of the human medicine faculty from 2010 to 2014 were included. According the aim of the thesis, it was determined if it was related to a national or regional HRP. We searched through Google Scholar if the thesis that met with a HRP had been published in a scientific journal. Results:150 thesis were found in the study period. Only 15 (10%) thesis had as the main objective a national HRP and 1 (0.6%) a regional HRP. Besides, none of the thesis had been published. Conclusion: There is a low frequency of medical thesis that were framed within a national and/or regional HRP.

Percepción y cumplimiento del consentimiento informado anestesiológico para cirugías electivas en un hospital del norte del Perú / Perception and compliance with anesthesiological informed consent for elective surgeries in a hospital in northern Peru

Introducción: El consentimiento informado es uno de los pilares fundamentales de la relación médico-paciente, por ello este estudio busca determinar el grado del cumplimiento y el grado de percepción del Consentimiento Informado Anestesiológico (CIA) brindado a los pacientes sometidos a cirugía electiva en el Hospital III José Cayetano Heredia-EsSalud (HJCH) durante Febrero del 2013. Material y métodos: Se llevó a cabo un estudio descriptivo, prospectivo, transversal y observacional en el HJCH-(Piura), en Febrero del 2013. Se elaboró y validó una encuesta para evaluar la percepción del CIA en cuatro dimensiones: información, entendimiento, autonomía y valores. Se aplicó dicha encuesta a los pacientes programados a cirugías electivas en el periodo de estudio. De estos mismos se revisó las historias clínicas para evaluar el cumplimiento de la documentación del CIA, a través de una lista de chequeo. Resultados: 131 pacientes fueron encuestados, la edad promedio fue de 49,98 años, el 67,2% eran mujeres. El 29,8% tenían nivel de estudios secundario, y el 67,2% presentaron cirugías previas. El grado de percepción total del CIA fue malo, según 52,7% de los encuestados. La percepción de la información, el entendimiento y la autonomía fue mala en un 67,9%, 54,2% y 70,2% respectivamente; mientras que los valores fueron percibidos como regulares en un 58,8%. El cumplimiento de la documentación del CIA se calificó como malo en un 49,6% de las historias clínicas revisadas. Conclusión: La percepción de los pacientes acerca del CIA y el grado de cumplimiento de la documentación del CIA es mala. (AU)

Introduction: The consent is part of the medical act that arises from the doctor-patient relationship; because this study aims to determine the degree of compliance and the degree of perception of anesthesiologist informed consent (AIC) given to hospitalized patients for elective surgery in Jose Cayetano Heredia-Essalud III-Hospital in February the 2013. Material and methods: a study descriptive, prospective, and observational and cross was performed at Jose Cayetano Heredia Hospital III-EsSalud, in Piura, during February in 2013 for which was developed and validated a questionnaire to evaluate AIC in four dimensions: information, understanding, autonomy and values. This questionnaire was applied to hospitalized patients for elective surgery during study period. Also the medical records of these patients were reviewed to know the degree of compliance of the documentation of process of AIC, for this was elaborated a check list. Results:131 patients were surveyed, the average age was 49,98 years, 67,2% were female. The 29.8% had secondary level of education, and 67,2% of the total had previous surgeries. The degree of global perception CIA was wrong, by 52,7% of respondents. The perception of information, understanding and autonomy was wrong in 67,9%, 54,2% and 70,2% respectively, while the values were perceived as fair by 58,8%. The degree of compliance the CIA documentation was scored as wrong in 49,6% of medical records reviewed. Conclusion:The perception of patients about of CIA and the degree of compliance with the documentation of the CIA is bad. (AU)

[Factors associated with level of knowledge and attitudes toward research among medical students in Peru, 2011]. / Factores asociados con el nivel de conocimientos y la actitud hacia la investigación en estudiantes de medicina en Perú, 2011.

OBJECTIVE: To identify the factors associated with level of knowledge and attitudes toward research among undergraduate medical students in Peru. METHODS: In this analytical cross-sectional study, a validated questionnaire on knowledge, attitudes, and practices related to research was applied to a representative sample of students at 17 Peruvian medical schools. The categorical and quantitative variables were subjected to simple two-factor analysis with adjustment for intraclass correlation. Prevalence ratios were derived on the basis of generalized linear models using bifactorial and multifactorial analysis. RESULTS: Questionnaires from 1 554 students (51.0% women) with an average age of 20.5 ± 2.86 years were analyzed. Only 46.7% of the respondents had a good level of knowledge and 37.7% had appropriate attitudes toward research. The variables that correlated with a good level of knowledge were the respondent having completed at least four years of academic study, belonging to a research group, and having an adviser. Having appropriate attitudes toward research correlated with being a woman and having an adviser. No differences were found between the level of knowledge and attitudes of the students at the universities studied. CONCLUSIONS: In general, the level of knowledge about research was unsatisfactory and the attitudes toward it were inappropriate. In order to change this situation, it will be critical to make changes in the curriculum to ensure that students engage in research from the beginning of their academic careers and develop research skills in their final years of study.

Factores asociados con el nivel de conocimientos y la actitud hacia la investigación en estudiantes de medicina en Perú, 2011 / Factors associated with level of knowledge and attitudes toward research among medical students in Peru, 2011

OBJETIVO: Identificar los factores asociados con el nivel de conocimientos y la actitud relacionados con la investigación en los estudiantes de pregrado de la carrera de medicina en Perú. MÉTODOS: Estudio transversal analítico. Se aplicó un cuestionario validado sobre conocimientos, actitud y prácticas relacionados con la investigación a una muestra representativa de estudiantes de 17 facultades de medicina de Perú. Se realizó el análisis simple y bifactorial para las variables categóricas y cuantitativas, con ajuste de la correlación intraclase. Se modelaron las razones de prevalencia mediante análisis bifactorial y multifactorial con modelos lineales generalizados. RESULTADOS: Se analizaron los cuestionarios de 1 554 estudiantes (51,0% mujeres) con una edad promedio de 20,5 años ± 2,86. Solo 46,7% de los encuestados tenía un buen nivel de conocimientos y 37,7% una adecuada actitud hacia la investigación. Las variables asociadas con el buen nivel de conocimientos fueron: el año académico del encuestado a partir del 4.º, pertenecer a un grupo de investigación y contar con un asesor. Tener una adecuada actitud hacia la investigación se asoció con ser mujer y tener un asesor. No se encontraron diferencias entre el nivel de conocimientos y la actitud de los estudiantes de las universidades estudiadas. CONCLUSIONES: En general, el nivel de conocimientos sobre la investigación es deficiente y la actitud hacia ella, inadecuada. Para cambiar esta situación, es prioritario hacer cambios curriculares que garanticen la incorporación de los estudiantes a la investigación desde el inicio de la carrera y desarrollar competencias en investigación en los últimos años de estudio.

OBJECTIVE: To identify the factors associated with level of knowledge and attitudes toward research among undergraduate medical students in Peru. METHODS: In this analytical cross-sectional study, a validated questionnaire on knowledge, attitudes, and practices related to research was applied to a representative sample of students at 17 Peruvian medical schools. The categorical and quantitative variables were subjected to simple two-factor analysis with adjustment for intraclass correlation. Prevalence ratios were derived on the basis of generalized linear models using bifactorial and multifactorial analysis. RESULTS: Questionnaires from 1 554 students (51.0% women) with an average age of 20.5 ± 2.86 years were analyzed. Only 46.7% of the respondents had a good level of knowledge and 37.7% had appropriate attitudes toward research. The variables that correlated with a good level of knowledge were the respondent having completed at least four years of academic study, belonging to a research group, and having an adviser. Having appropriate attitudes toward research correlated with being a woman and having an adviser. No differences were found between the level of knowledge and attitudes of the students at the universities studied. CONCLUSIONS: In general, the level of knowledge about research was unsatisfactory and the attitudes toward it were inappropriate. In order to change this situation, it will be critical to make changes in the curriculum to ensure that students engage in research from the beginning of their academic careers and develop research skills in their final years of study.