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.

[Pneumonia and benign acute myositis of childhood due to Mycoplasma pneu-moniae associated with encephalitis: A case report]. / Neumonía y miositis aguda benigna de la infancia por Mycoplasma pneumoniae asociado a encefalitis: reporte de caso.

One of the leading causes of pneumonia in children between 5 to 15 years is Mycoplasma pneumoniae, a bacterium that causes atypical clinical manifestations such as myositis and encephalitis. We report a 5-year-old girl who presented functional limitations of the lower extremities preceded by an upper respiratory infection. Later on, she developed pneumonia and encephalitis. Antibiotics and antivirals were administered due to the clinical deterioration of the patient. IgM serology for Mycoplasma pneumoniae was positive, while the other viral studies were negative. The clinical course was favorable with a progressive decrease in respiratory distress, sensorial disorder, and improvement in the functional limitations of the lower limbs after 15 days of treatment.

Una de las principales causas de neumonía en niños entre 5 y 15 años es el Mycoplasma pneumoniae, una bacteria que causa manifestaciones clínicas atípicas como la miositis y encefalitis. Reportamos un caso de una niña de cinco años que presentó limitación funcional en extremidades inferiores precedida por una infección respiratoria superior. Posteriormente, se complicó con neumonía y encefalitis. Se administraron antibióticos y antivirales debido al deterioro clínico del paciente. La serología de inmunoglobulinas para Mycoplasma pneumoniae fue positiva; mientras que los demás estudios virales fueron negativos. El curso clínico fue favorable con disminución progresiva de la dificultad respiratoria, trastorno del sensorio y mejoría en la limitación funcional en las extremidades inferiores a los 15 días de tratamiento.

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.

Neumonía y miositis aguda benigna de la infancia por Mycoplasma pneumoniae asociado a encefalitis: reporte de caso / Pneumonia and benign acute myositis of childhood due to Mycoplasma pneu-moniae associated with encephalitis: a case report

Una de las principales causas de neumonía en niños entre 5 y 15 años es el Mycoplasma pneumoniae, una bacteria que causa manifestaciones clínicas atípicas como la miositis y encefalitis. Reportamos un caso de una niña de cinco años que presentó limitación funcional en extremidades inferiores precedida por una infección respiratoria superior. Posteriormente, se complicó con neumonía y encefalitis. Se administraron antibióticos y antivirales debido al deterioro clínico del paciente. La serología de inmunoglobulinas para Mycoplasma pneumoniae fue positiva; mientras que los demás estudios virales fueron negativos. El curso clínico fue favorable con disminución progresiva de la dificultad respiratoria, trastorno del sensorio y mejoría en la limitación funcional en las extremidades inferiores a los 15 días de tratamiento.

One of the leading causes of pneumonia in children between 5 to 15 years is Mycoplasma pneumoniae, a bacterium that causes atypical clinical manifestations such as myositis and encephalitis. We report a 5-year-old girl who presented functional limitations of the lower extremities preceded by an upper respiratory infection. Later on, she developed pneumonia and encephalitis. Antibiotics and antivirals were administered due to the clinical deterioration of the patient. IgM serology for Mycoplasma pneumoniae was positive, while the other viral studies were negative. The clinical course was favorable with a progressive decrease in respiratory distress, sensorial disorder, and improvement in the functional limitations of the lower limbs after 15 days of treatment.

Severidad de la inflamación en los reportes de Papanicolaou según agente etiológico encontrado en un hospital público del norte de Perú

Antecedentes. Las infecciones de transmisión sexual son un problema de salud con implicancias diversas, los factores asociados varían desde el inicio de las relaciones sexuales, número de parejas, uso de métodos anticonceptivos, entre otros. Mediante la citología se puede evaluar los cambios inflamatorios y la presencia de agentes patógenos; la relación entre los factores antes mencionados es conocida pero poco estudiada aún. Objetivo: Determinar la asociación entre el grado de severidad del reporte y el agente etiológico encontrado en la citología cérvico-vaginal. Métodos: Estudio transversal analítico, de los reportes de Papanicolaous del consultorio de ginecología y obstetricia del Hospital de Apoyo-Sullana II-2, Piura-Perú, 2007-2011. Se realizó un muestreo por conveniencia tipo censal (n=1535). Obteniendo datos del tipo de agente según el grado de inflamación, se realizó análisis descriptivos y analíticos, usando las pruebas chi2 y U de Mann Whitney. Resultados: La mediana de edades de las pacientes fue 36 años. Se encontró agentes patógenos en el 34% de muestras; las más frecuentes fueron la Cándida (64%) y la Gardnerella (28%). Se encontró una fuerte asociación entre la severidad de la inflamación y la presencia de Gardnerella (p<0,001), Trichomonas (p<0,001), la co-infección de dos gérmenes (p<0,001) y por cada año extra de edad de la paciente (p<0,001). Conclusiones: La severidad del reporte de Papanicolau está asociada al tipo de germen, la co-infección y la edad de la paciente. Esto debe ser tomado en cuenta para el manejo terapéutico en poblaciones similares.

Background: Sexually transmitted infections are a health problem with many implications, associated fac-tors, ranging from the beginning of intercourse, number of partners, contraceptive methods use, among others. By cytology can assess inflammatory changes and the presence of pathogens. The relationship between the above factors is known but there are not enough studies. Objective: To determine the association between the severity of the report and the etiologic agent found in the cervical-vaginal cytology. Methods: Cross-sectional study of Papanicolaous reports from 2007-2011 of obstetrics and gynecology’s area at "Hospital de Apoyo II-2, Sullana", Piura, Peru. A convenience sampling census type (n=1535) was performed to obtain type of agent's data according to the degree of inflammation; also descriptive and analytical analysis was performed using the tests chi-square and Mann Whitney. Results: The median age of patients was 36 years. Pathogens was found in 34%; the most common were Candida (64%) and Gardnerella (28%). A strong association between the severity of inflammation and the presence of Gardnerella (p<0.001) was found; Trichomonas (p<0.001), the co-infection of two germs (p<0.001) and for each additional year of age of the patient (p<0.001). Conclusions: The severity of the report Papanicolaous is associated with the type of germ, co-infection and the age of the patient. This should be taken into account for the therapeutic management in similar populations.