Efecto de la Vitamina E en Células Peritubulares de Testículos de Ratones Mus musculus Tratados con Ácido Valproico Durante el Estado Fetal y Pubertad / Effect of Vitamin E on Peritubular Cells from Testis of Mus musculus Mice Treated with Valproic Acid During the Fetal Stage and Puberty

El ácido valproico (VPA) es un fármaco antiepiléptico teratógenico que, al ser administrado durante etapas tempranas del embarazo, puede producir alteraciones en el desarrollo embriofetal, las que se manifiestan tanto a nivel del sistema nervioso como del testículo. No obstante, se ha reportado que la administración de vitamina E (VE) podría revertir dichas alteraciones. El objetivo del presente estudio fue determinar el efecto protector de la VE a nivel testicular en fetos y ratones púberes expuestos a VPA durante la fase embrionaria de su desarrollo. Se utilizó un total de 30 ratones hembra adultas gestantes (Mus musculus) cepa BALB/c, las cuales se dividieron en 6 grupos. El estudio contempló el análisis de fetos machos a los 17,5 días post-coital (dpc) y machos juveniles a las 6 semanas post-natal. A los grupos 1 y 4 se les administró 0,3 mL de solución fisiológica (grupos control para 17,5 dpc y 6 semanas postnatal, respectivamente). A los grupos 2 y 5 se les suministró la cantidad de 600 mg/kg de VPA (grupos VPA), en tanto que a los grupos 3 y 6 se les aplicó la misma dosis de VPA complementada con 200 UI de VE (grupos VPA+VE). Se describió la histología normal y patológica del compartimento peritubular del testículo. En los grupos VPA se evidenció una degeneración de la pared peritubular, y atrofia de túbulos seminíferos, así como exfoliación de las células germinales. Por el contrario, en los grupos VPA+VE tales signos no fueron observados y la morfología presentó aspecto normal solo con algunas alteraciones focales. Estos resultados corroboran el hecho que la administración de VE contrarresta en parte, los efectos deletéreos que ocasiona el VPA.

SUMMARY: Valproic acid (VPA) is a teratogenic antiepileptic drug that, when administered during the early stages of pregnancy, can produce alterations in embryo-fetal development, which manifest both at the level of the nervous system and the testicle. However, it has been reported that the administration of vitamin E (VE) could reverse these alterations. The study aimed to determine the protective effect of VE at the testicular level in fetuses and pubertal mice exposed to VPA during the embryonic phase of their development. 30 pregnant adult female mice (Mus musculus) BALB/c strain were used, which were divided into 6 groups. The study included the analysis of male fetuses at 17.5 days post-coital (dpc) and juvenile males at 6 weeks post-natal. Groups 1 and 4 were administered 0.3 mL of physiological solution. Groups 2 and 5 were given 600 mg/kg of VPA (VPA groups), while groups 3 and 6 were given the same dose of VPA supplemented with 200 IU of VE (VPA+VE). The normal and pathological histology of the peritubular compartment of the testis was described. In the VPA groups, degeneration of the peritubular wall, and atrophy of the seminiferous tubules, as well as exfoliation of the germ cells, were evident. On the contrary, in the VPA+VE groups such signs were not observed and the morphology presented a normal appearance with only some focal alterations. These results corroborate the fact that the administration of VE partially counteracts the deleterious effects caused by VPA.

Análise estratégica da atenção às malformações congênitas: proposta de abordagem para o desenho de linhas de cuidado / Strategic analysis of malformations congenital care: proposal of approach and development of care pathways

Resumo O trabalho apresenta uma proposta de agrupamento de casos para organização de serviços e linhas de cuidado. Trata-se de um estudo exploratório, no campo do planejamento e organização dos serviços de saúde, que utilizou como caminho metodológico a pesquisa documental e bibliográfica e a consulta a especialistas, por meio da técnica de grupo nominal. A partir da análise estratégica, foram identificados quatro grupos: MC menores; MC de abordagem cirúrgica tardia; MC de abordagem cirúrgica imediata; e MC incompatíveis com a vida. A proposição partiu da articulação dos conhecimentos da clínica, da epidemiologia e do planejamento em saúde para auxiliar no desenho e organização da atenção às malformações congênitas. A análise estratégica mostrou-se adequada e permitiu identificar grupos de casos que demandam um conjunto homogêneo de atividades assistenciais e o cuidado em serviços de saúde com perfil assistencial similar. Tal proposta pode contribuir também para o planejamento regional e a organização da rede de atenção a outros problemas e condições complexas de saúde que demandam a articulação de serviços especializados e de alta densidade tecnológica.

Abstract This paper aims at presenting a proposal for grouping cases for the organization of health services and care pathways. This is an exploratory study in the field of health services planning and management, which used, as its methodology, documentary and bibliographic research as well as interviews with specialists by using nominal group technique. From the strategic analysis, four groups were identified: smaller CM; CM with late surgical approach; CM with immediate surgical approach; and CM incompatible with life. The proposition started from the articulation of clinical, epidemiological and health planning knowledge to assist in the management and organization of congenital malformations care. The strategic analysis proved to be adequate and allowed us to identify case groups that demand a homogeneous set of care strategies and care in health services with a similar profile. This proposal can also contribute to regional planning and management of care for other complex health problems and conditions, which demand the articulation of specialized services and high technological density.

Study of Central Nervous System Malformations of Perinatal Autopsies

Background: Congenital malformations remain a common cause of perinatal deaths accounting for 10-15% in developing countries like India. They are the most severe disorders of the central nervous system. Although antenatal screening for congenital anomalies has been improved over the years, fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. The present study emphasizes the importance of perinatal autopsy for understanding the cause of death and also conforma?on of the antenatal diagnosis of the spectrum of various congenital CNS malforma?ons. Methods: We studied 644 perinatal autopsies conducted in our hospital. The dura?on of the study was 5 years, from 1st August 2015 to 31st July 2020 that included all perinatal autopsies with gesta?onal age of 22 weeks to less than 7 days. Results: Out of 644 perinatal autopsies 125 cases (19.4%) had congenital anomalies, of which 62 cases (9.6%) showed CNS malforma?ons. The most common CNS anomalies encountered were anencephaly 14 cases (22.6%) followed by 10 cases (16.1%) each of spina bifida and meningocele, and 8 cases (12.9%) of meningomyelocele. In the present study, 6 (9.7%) cases of CNS malforma?ons were associated with known syndromes namely Edward syndrome, Potter’s syndrome, and KlippelFeil syndrome. Along with CNS in 21 (33.9%) cases we observed associated malforma?ons of other systems with 7 cases involving the musculoskeletal system, 3 cases involving the genitourinary system, and 5 (8.1%) cases showing mul?system involvement. Conclusion: Antenatal screening for congenital anomalies has been improved over the years. Even then fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. Understanding this gives valuable informa?on that can be further helpful in the gene?c counseling of the parents.

Prevalencia de patologías fetales que pueden beneficiarse de intervenciones intrauterinas en un hospital de tercer nivel del Occidente de México / Prevalence of fetal pathologies that can benefit from intrauterine interventions in a third level hospital in western Mexico

Resumen OBJETIVO: Determinar la prevalencia de afecciones susceptibles de ser tratadas mediante un procedimiento intrauterino en una unidad de Medicina Materno Fetal de un hospital de tercer nivel del Occidente de México, en un periodo de nueve años. MATERIALES Y MÉTODOS: Estudio transversal y descriptivo, con revisión de los reportes de ultrasonidos obstétricos practicados en la Unidad de Medicina Materno Fetal del Hospital Civil de Guadalajara Dr. Juan I. Menchaca del 2013 al 2021, con selección de los casos de pacientes con diagnóstico de alguna afectación susceptible de ser intervenida de manera intrauterina. RESULTADOS: Durante el periodo de estudio se practicaron y registraron 103,721 ultrasonidos obstétricos, de éstos se integraron al estudio aquí publicado 257 pacientes con diagnóstico de alguna afectación susceptible de ser intervenida in útero. La prevalencia de afectaciones con posibilidad de ser intervenidas por vía intrauterina fue del 0.47% de la totalidad de pacientes valoradas. La media de edad de las pacientes fue de 24.6 años; 162 (63%) multigestas y 95 (37%) primigestas. Embarazos únicos 193 (75%) y 64 (25%) múltiples. Las semanas promedio de gestación al diagnóstico de la afectación fueron 25.6. CONCLUSIONES: En este ensayo se estimó una prevalencia de 0.47 padecimientos que pueden ser intervenidos in útero, dejando de lado muchas otros en los que los estudios no han demostrado beneficio de una cirugía fetal, ni los beneficios superan los riesgos, si se practica la cirugía de manera prenatal o posnatal.

Abstract OBJECTIVE: To determine the prevalence of conditions amenable to treatment by an intrauterine procedure in a Maternal-Fetal Medicine unit of a tertiary hospital in western Mexico over a nine-year period. MATERIALS AND METHODS: Cross-sectional and descriptive study, with review of obstetric ultrasound reports performed in the Maternal-Fetal Medicine Unit of the Civil Hospital of Guadalajara Dr. Juan I. Menchaca from 2013 to 2021, with selection of cases of patients diagnosed with any condition susceptible to intrauterine intervention. RESULTS: During the study period 103,721 obstetric ultrasounds were performed and recorded, of which 257 patients were included in the study published here with a diagnosis of a condition that could be treated in utero. The prevalence of conditions that could be treated in utero was 0.47% of all patients assessed. The mean age of the patients was 24.6 years; 162 (63%) were multigestational and 95 (37%) primigravid. Singleton pregnancies 193 (75%) and 64 (25%) multiple pregnancies. Mean weeks of gestation at diagnosis of involvement was 25.6. CONCLUSIONS: This trial estimated a prevalence of 0.47% of conditions that can be intervened in utero, leaving aside many others where studies have not demonstrated benefit of fetal surgery, nor do the benefits outweigh the risks, whether surgery is performed prenatally or postnatally.

Vigilancia epidemiológica de defectos congénitos en Granma

Introducción: el Registro Cubano De malformaciones Congénitas (RECUMAC), es un programa de atención y vigilancia clínico-epidemiológico de las anomalías congénitas, el cual fue implementado en nuestro país en el año 1985, tiene un diseño de tipo caso-control, de base hospitalaria y alcance nacional, recogiendo información sobre la madre y el recién nacido, los productos de las terminaciones voluntarias de embarazo (TVE), así como factores ambientales y genéticos de interés. Objetivo: determinar la prevalencia al nacer y la frecuencia ajustada de defectos congénitos mayores. Métodos: se realizó un estudio observacional, descriptivo y transversal, que implicó a los recién nacidos con defectos congénitos mayores de la provincia Granma en el período 2011-2018. Se calculó la prevalencia al nacer, la frecuencia ajustada y la tendencia de ambos, del total de los defectos estudiados para cada año, en cada municipio. Resultados: las frecuencias ajustadas de malformaciones congénitas se mantienen entre 14,4 y 15x1000 NV, excepto en los años 2012 y 2014 en que se elevó a 20 x1000 NV, los municipios Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero y Buey Arriba fueron los de mayor frecuencia de anomalías congénitas, superando la media provincial, con frecuencias entre 16,13 y 23,2x1000 NV, el sistema de órganos con mayor FA de malformaciones congénitas fue el cardiovascular con 3,74x1000 NV, y según sistema de vigilancia internacional fue la hidrocefalia la malformación más frecuente con 0,92x1000 NV y 92% de TVE. Conclusiones: Las mayores tasas de malformaciones congénitas pertenecen en primer lugar al sistema cardiovascular seguidas del sistema genitourinario y el soma. El síndrome Down, la hidrocefalia, la Gastrosquisis, la Hipospadia y el labio leporino son las cinco malformaciones congénitas más frecuentes en nuestra provincia.

Introduction: the Cuban Registry of Congenital Malformations (RECUMAC), is a program of care and clinical-epidemiological surveillance of congenital anomalies, which was implemented in our country in 1985, has a case-control design, hospital-based and national scope, collecting information on the mother and newborn, the products of voluntary terminations of pregnancy (TVE), as well as environmental and genetic factors of interest. Objective: to determine the prevalence at birth and adjusted frequency of major birth defects. Methods: an observational, descriptive and cross-sectional study was conducted involving newborns with major congenital defects in Granma province in the period 2011-2018. The prevalence at birth, the adjusted frequency and the trend of both, of the total of the defects studied for each year, in each municipality were calculated. Results: the adjusted frequencies of congenital malformations remain between 14.4 and 15x1000 NV, except in the years 2012 and 2014 when it rose to 20 x1000 NV, the municipalities Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero and Buey Arriba were the ones with the highest frequency of congenital anomalies, exceeding the provincial average, with frequencies between 16.13 and 23.2x1000 NV, the organ system with the highest AF of congenital malformations was the cardiovascular one with 3.74x1000 NV, and according to the international surveillance system, hydrocephalus was the most frequent malformation with 0.92x1000 NV and 92% of TVE. Conclusions: The highest rates of congenital malformations belong first to the cardiovascular system followed by the genitourinary system and the soma. Down syndrome, hydrocephalus, gastroschisis, hypospadia and cleft lip are the five most frequent congenital malformations in our province.

Introdução: o Registro Cubano de Malformações Congênitas (RECUMAC), é um programa de assistência e vigilância clínico-epidemiológica das anomalias congênitas, que foi implantado em nosso país em 1985, possui delineamento caso-controle, de âmbito hospitalar e nacional, coletando informações sobre a mãe e o recém-nascido, produtos de interrupções voluntárias da gravidez (TVE), bem como fatores ambientais e genéticos de interesse. Objetivo: determinar a prevalência ao nascer e a frequência ajustada dos principais defeitos congênitos. Métodos: foi realizado um estudo observacional, descritivo e transversal envolvendo recém-nascidos com defeitos congênitos maiores na província de Granma no período de 2011 a 2018. Foram calculadas a prevalência ao nascer, a frequência ajustada e a tendência de ambas, do total de defeitos estudados para cada ano, em cada município. Resultados: as frequências ajustadas de malformações congênitas permanecem entre 14,4 e 15x1000 NV, exceto nos anos de 2012 e 2014 quando subiu para 20 x1000 NV, os municípios de Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero e Buey Arriba foram os que apresentaram maior frequência de anomalias congênitas, superando a média provincial, com frequências entre 16,13 e 23,2x1000 NV, o sistema orgânico com maior FA de malformações congênitas foi o cardiovascular com 3,74x1000 NV e, de acordo com o sistema de vigilância internacional, a hidrocefalia foi a malformação mais frequente com 0,92x1000 NV e 92% de TVE. Conclusões: As maior estaxas de malformações congênitas pertencem primeiro ao sistema cardiovascular, seguido pelo aparelho geniturinário e pelo soma. Síndrome de Down, hidrocefalia, gastrosquise, hipospádia e fenda labial são as cinco malformações congênitas mais frequentes em nossa província.

Síndrome de regresión caudal en diabetes materna: reporte de caso / Caudal regression syndrome in maternal diabetes: case report

Resumen ANTECEDENTES: La diabetes mellitus sigue siendo una enfermedad de gran prevalencia mundial; en México alcanza el 13.7% y, de este porcentaje, el 30% ignora que la padece. Esta circunstancia se ha asociado con complicaciones durante el embarazo: malformaciones congénitas por hiperglucemia en el primer trimestre del embarazo y el síndrome de regresión caudal, entre otras. A pesar de los avances en el diagnóstico y tratamiento de esta enfermedad metabólica, estas alteraciones siguen provocando discapacidad, de ahí la importancia de su identificación temprana en el embarazo. CASO CLÍNICO: Paciente de 35 años, primigesta, con diagnóstico de diabetes tipo 2 establecido en el primer trimestre del embarazo, con hemoglobina glucosilada de 7.6%. En el ultrasonido estructural se observaron datos compatibles con el síndrome de regresión caudal y alteraciones severas en las extremidades. Al nacimiento, a las 18 semanas, se confirmó la luxación importante de las extremidades inferiores. CONCLUSIÓN: En la primera consulta prenatal debe practicarse el tamizaje para diabetes, sobre todo en pacientes con alto riesgo. Luego del diagnóstico son importantes los ultrasonidos de segundo nivel para detectar anomalías. La educación a la paciente es decisiva para el adecuado control metabólico y prevención de complicaciones durante el embarazo.

Abstract BACKGROUND: Diabetes mellitus continues to be a disease of high prevalence worldwide; in Mexico it reaches 13.7% and, of this percentage, 30% are unaware that they suffer from it. This circumstance has been associated with complications during pregnancy: congenital malformations due to hyperglycaemia in the first trimester of pregnancy and caudal regression syndrome, among others. Despite advances in the diagnosis and treatment of this metabolic disease, these alterations continue to cause disability, hence the importance of early identification in pregnancy. CLINICAL CASE: 35-year-old primigravida patient with a diagnosis of type 2 diabetes established in the first trimester of pregnancy, with a glycosylated haemoglobin of 7.6%. Structural ultrasound showed data compatible with caudal regression syndrome and severe alterations in the extremities. At birth, at 18 weeks, severe dislocation of the lower extremities was confirmed. CONCLUSION: Screening for diabetes should be performed at the first prenatal visit, especially in high-risk patients. After diagnosis, second level ultrasound is important to detect abnormalities. Patient education is crucial for adequate metabolic control and prevention of complications during pregnancy.

Glycemic and nonglycemic mechanisms of congenital malformations in hyperglycemic pregnancies: a narrative review

ABSTRACT Congenital malformations are more frequently found among children born to mothers with diabetes than in the background population. There are several complex mechanisms involved in the development of congenital malformations in the offspring of mothers with hyperglycemia, such as the overexpression of glucose transporters (GLUTs) 1 and 2, the increased activity of the hexosamine biosynthetic pathway and the reduced expression of the PAX3 gene with a consequent increase in p53 protein expression. These alterations can lead to increased glucose and free radical concentrations in the embryo, thus promoting the process of apoptosis and causing malformation. The most frequent malformations found in the offspring of mothers with diabetes are heart and neural tube defects, urinary tract and kidney malformations, and cleft lip with or without cleft palate. Strict glycemic control should be obtained before and during pregnancy, aiming to avoid or minimize the risk of congenital malformations in the offspring. Beyond hyperglycemia, several factors may also be associated with increased risks of malformations in the offspring of these women, such as obesity, multiple pregnancies, advanced maternal age, folic acid deficiency, use of angiotensin converting enzyme inhibitors and angiotensin receptor blockers, assisted reproduction techniques, and exposure to different types of environmental pollutants.

Modificación de Mulliken en la reparación de la fisura labial unilateral incompleta en Matanzas, 2016-2018 / Mulliken modification in the repair of incomplete unilateral cleft lip in Matanzas, 2016-2018

RESUMEN El impacto biológico, social, económico y psicológico que acarrea la fisura labial conlleva a aplicar nuevas modificaciones en la corrección quirúrgica de sus técnicas de tratamiento. El objetivo de esta investigación fue evaluar los resultados de la técnica quirúrgica de Rotación y Avance de Millard modificada por Mulliken en la corrección de la fisura labial unilateral incompleta en Matanzas. Se realizó un estudio de casos, longitudinal, prospectivo en el Hospital Docente Pediátrico «Eliseo Noel Caamaño¼ de Matanzas, entre 2016 y 2018. El universo estuvo constituido por menores de un año diagnosticados de fisura labial unilateral incompleta, que asistieron a la consulta de Cirugía Maxilofacial de dicho hospital, en el período en que se realizó la investigación y en los que para su tratamiento se empleó la técnica de Rotación y Avance de Millard modificada por Mulliken. Se trabajó con la totalidad del universo. Se utilizó estadística descriptiva. Los pacientes fueron intervenidos entre los 5 y 9 meses, predominó el color de piel blanca (75 %) y el sexo masculino (75 %). La altura labial y el ancho heminasal aumentaron más en el lado sano que en el fisurado. Al año de la intervención en el lado fisurado creció más el ancho transversal que en el sano en dos de los casos y también existió una diferencia mayor de 1 mm en la altura del bermellón. Se logró alcanzar simetría nasolabial en espejo del lado sano en todas las variables, excepto en la altura del bermellón en dos casos.

ABSTRACT The biological, social, economic and psychological impact caused by cleft lip leads to the application of new modifications in the surgical correction of its treatment techniques. The objective of this research was to evaluate the results of the Millard's rotation-advancement surgical technique modified by Mulliken in the correction of incomplete unilateral cleft lip in Matanzas. A longitudinal, prospective study was conducted at "Eliseo Noel Caamaño" Pediatric Teaching Hospital, in Matanzas between 2016 and 2018. The universe was made up of children under one year of age diagnosed with incomplete unilateral cleft lip, who come to the Maxillofacial Surgery consultation of this hospital, in the period in which the investigation was carried out and in whom, Millard 's rotation-advancement surgical technique modified by Mulliken was used for their treatment. We worked with the entire universe. Descriptive statistics was used. The patients underwent surgery between 5 and 9 months, white skin color (75%) and male gender (75%) predominated. Labial height and heminasal width increased more on the healthy side than on the cleft side. One year after the intervention, the transverse width grew more on the cleft side than on the healthy side in two of the cases, and there was also a difference greater than 1 mm in the vermilion height. Mirror-image nasolabial symmetry was achieved on the healthy side in all variables, except for vermilion height in two cases.

Pregnancy with epilepsy and antiepileptic drug therapy on fetomaternal outcome

Background: Pregnancy women with epilepsy may have higher chances of obstetric complications, aggregative seizures, major congenital malformations, and abnormal deliveries. Monotherapy or polytherapy of anti-epileptic drugs are usually associated with adverse outcomes in pregnant women with epilepsy. Aim and Objectives: The aim of the study was to evaluate the effect of epilepsy and antiepileptic drug (AED) therapy on the fetomaternal outcome in pregnant women. Material and Methods: A total of 46 pregnant women with epileptic seizures between 18 and 35 years with mean age of 26.46 years were included in the study. The demographic, clinical, and obstetrical data were collected from the medical records. The AED monotherapy and polytherapy with drug dosage details were noted. The details of mode of delivery, outcome of seizures in post-natal period and fetal outcome were gathered. Results: About 65.21% cases were under AED polytherapy and 34.78% cases were under AED monotherapy. Majority cases had carbamazepine (CBZ) and sodium valproate mono and polytherapy. Majority had normal vaginal delivery (65.11%). Single or in combination use of sodium valproate, CBZ, and phenytoin are associated with major congenital malformations (9%). Postpartum hemorrhage was observed in 6.52% cases and postpartum seizure occurrence was observed in 8.69% cases. Conclusion: A well planned pregnancy, continuous monitoring for congenital malformations and fetal growth restriction is necessary in pregnant women under AED therapy for better maternal and fetal outcome.

Trabajo colaborativo en el manejo de malformaciones faciales congénitas / Collaborative Work in the management of congenital facial malformations

RESUMEN El sistema de servicios de salud en el Perú es fragmentado y segmentado, en este nuevo siglo se requiere de una actitud coordinada y cooperativa entre los profesionales de la salud. Las malformaciones labio alveolo palatinas, son anomalías congénitas más frecuentes de la región bucomaxilofacial, afecta el crecimiento y desarrollo de estructuras orofaciales de las dos terceras partes de la cara, alterando reflejos orales innatos como la mordida, succión, deglución y la capacidad de la cavidad bucal para permitir acumulación de presión. Un desempeño adecuado en los servicios de salud se logra con una visión y postura compartida entre los integrantes del equipo de trabajo, sumada a una gestión eficaz, para lo cual la práctica colaborativa interprofesional requiere de cambios de paradigma, en el que se demuestre una evidencia sustancial e irrefutable de una cultura de equipo y un entorno interdisciplinario confiable, reconociendo responsabilidad compartida en los resultados.

ABSTRACT The health services system in Peru is fragmented and segmented, in this new century a coordinated and cooperative attitude is required among health professionals. Lip alveolus-palatine malformations are the most frequent congenital anomalies on the bucomaxillofacial region, affecting the growth and development of orofacial structures of two-thirds of the face, altering innate oral reflexes such as biting, sucking, swallowing and the capacity on the cavity buccal to allow pressure build-up. Adequate performance in health service is achieved with a shared vision and posture among the members of the work team, added to effective management, for which interprofessional collaborative practice requires paradigm changes, in which evidence is demonstrated substantial and irrefutable of a team culture and a reliable interdisciplinary environment, recognizing shared responsibility for results.

Ectopia cordis abdominal. Apropósito de un caso

Resumen Introducción: La ectopia cordis es una malformación congénita poco frecuente y grave caracterizada por el desplazamiento del corazón fuera de la cavidad torácica, Existe discreto predominio en el sexo femenino y se asocia a teratógenos no potentes y relacionado también a factores genéticos, su diagnóstico prenatal es muy importante y su pronostico es desfavorable en casi la totalidad de los casos. Objetivo: Describir el manejo con una paciente con ectopia cordis en Letsholathebe Memorial Hospital II Republica de Botswana. Descripción: Se describe el manejo por parte del pediatra y el cardiólogo desde su diagnóstico desde su nacimiento hasta sus ingresos hospitalarios. Conclusiones: Ectopia cordis es una malformación congénita rara que tiene un mal pronóstico incluso después del enfoque quirúrgico y su gravedad está relacionada con la presencia de otras anomalías.

ABSTRACT Introduction: Ectopia cordis is a rare and severe congenital malformation characterized by the displacement of the heart outside the chest cavity, there is discreet predominance in the female sex and is associated with non-potent teratogens and also related to genetic factors, its prenatal diagnosis is very important and its prognostic is unfavorable in almost all cases. Objective Describe management with a patient with ectopia cordis at Letsholathebe Memorial Hospital II Republic of Botswana. Description: It describes the management by the pediatrician and the cardiologist from his diagnosis from birth to his hospital admissions. Conclusions: Ectopia Cordis is a rare congenital malformation that has a poor prognosis even after the surgical approach and its severity is related to the presence of other abnormalities.

Descriptive epidemiology of external structural birth defects in Enugu State, Nigeria

Objectives: To determine the birth prevalence, trend, and characteristics of external structural birth defects occurrence in Enugu Metropolis, Nigeria. Design: Cross-sectional study involving review of delivery records. Setting: The study was conducted at three tertiary hospitals, one public and two missionary, in Enugu Metropolis. Participants: Mothers and their babies delivered between 1 January 2009 and 31 December 2016 in the study facilities. Main outcome measures: Birth prevalence of defects presented as frequency/10,000 births. Other descriptive variables are presented as frequencies and percentages. Results: There were 21530 births with 133 birth defects (birth prevalence: 61.8/10,000 births) and 1176 stillbirths (stillbirth rate: 54.6/1000 births). The frequencies and birth prevalence (/10,000 births) of recorded defects were: Limb deformities 60(27.9), Neural tube defects (NTDs): 36(16.7), Urogenital system defects: 12(5.6), Gastrointestinal system defects 10(4.6) and Orofacial clefts 4(1.9). Birth defects occurrence showed a rising trend from 2009 to 2016. The mean (SD) age of mothers whose babies had Birth defects was 29.1(4.7) years. Only 62(46.6%) of 133 antenatal clinic folders of these women were traceable for further review. Eighteen (29.0%) had febrile illness in early pregnancy, 9(14.5%) had Malaria, 17(27.4%) had <4 antenatal clinic attendance, 7(11.3%) did not take folic acid and 6(9.7%) took herbal medications during pregnancy. Conclusions: Birth defects occurrence showed a rising trend with limb deformities and NTDs having the highest prevalence. Record keeping was poor at the facilities. Birth defects preventive interventions like folic acid supplementation for women-of-childbearing age should be promoted in Enugu Metropolis.

Major cardiac defects in cattle in southern Brazil: retrospective study of necropsies over 20 years (2000-2019) / Principais defeitos cardíacos em bovinos no sul do Brasil: estudo retrospectivo de necropsias em 20 anos (2000-2019)

ABSTRACT: Cardiac malformations are reported to be relatively rare in bovine species, with ventricular septal defects being the most common abnormality observed predominantly in young calves. This report aims to describe the cardiac malformations observed in bovids and review the literature related to those malformations in this species. The necropsy reports of 1,783 bovids were reviewed, and 0.4% were diagnosed with a cardiac congenital defect. The most common cardiac congenital malformation detected in this study was ventricular septal defect, observed alone or associated with other anomalies (in one case, as part of tetralogy of Fallot); followed by atrial septal defect, also alone or with other cardiac malformations. Secondary findings in the lungs and liver were observed in 75% of all cases. Histologic cardiac lesions were identified in 25% of all cases, characterized mainly by fibrosis. Other congenital malformations in different organs were observed in 25% of the cases. Considering the importance of cardiac congenital malformations observed in this study, these conditions should be considered as a differential diagnosis for calves who died with no specific clinical signs. Furthermore, macroscopic evaluation is crucial for the diagnosis of cardiac congenital malformations.

RESUMO: Malformações cardíacas são descritas como relativamente raras para bovinos, e defeitos do septo interventricular são as anomalias mais observadas em bezerros. O objetivo deste artigo é descrever os casos de malformações cardíacas observadas em bovinos e uma revisão de literatura sobre estas malformações nesta espécie. Os relatórios de necropsia de 1.783 bovinos foram revisados, e 0,4% destes foram diagnosticados com defeitos cardíacos congênitos. A malformação cardíaca congênita mais diagnosticada neste estudo foi defeito do septo interventricular, observado sozinho ou associado a outras anomalias (em um caso de tetralogia de Fallot); seguida de defeito no septo interatrial, também observado sozinho ou juntamente com outras malformações cardíacas. Lesões secundárias nos pulmões e fígado foram observadas em 75% dos casos. As alterações histológicas no coração, visualizadas em 25% dos casos, foram caracterizadas principalmente por fibrose. Outras malformações congênitas em diferentes órgãos foram identificadas em 25% dos casos. Considerando a importância de malformações cardíacas congênitas observadas neste estudo, estas condições devem ser consideradas como diagnósticos diferenciais para bezerros que morrem sem sinais clínicos específicos. Adicionalmente, a avaliação macroscópica é fundamental para o diagnóstico de malformações cardíacas congênitas.

Diagnóstico prenatal de malformaciones congénitas y alteraciones cromosómicas: resultado de la experiencia CIMAF - Hospital Dr. Sótero Del Río / Prenatal Diagnosis of Congenital Malformations and Chromosomal Abnormalities: Single Center Experience - Hospital Dr. Sótero Del Río, Chile

INTRODUCCIÓN: El diagnóstico prenatal de anomalías congénitas tiene como objetivo ofrecer consejería apropiada, identificar aquellas patologías que se benefician de terapia fetal y coordinar la derivación de estas pacientes a centros terciarios para un óptimo manejo perinatal. Para el diagnóstico y manejo de las anomalías congénitas en el Hospital Dr. Sótero Del Río contamos con un equipo multidisciplinario. El objetivo de este estudio es describir nuestra experiencia como centro de referencia en Santiago de Chile en relación al diagnostico prenatal de malformaciones congénitas, estudio genético prenatal y resultados perinatales. MÉTODOS: Estudio retrospectivo y descriptivo. Se incluyó a las pacientes registradas en las bases de datos ecográficas entre 2010 y 2019 del Hospital Dr. Sotero del Rio. Se revisaron fichas clínicas para evaluación y seguimiento postnatal. RESULTADOS: Se evaluaron 404 pacientes con sospecha de malformaciones congénitas o marcadores de aneuploidías. La edad gestacional media de la evaluación fue 29 semanas (14-38 semanas). La mediana de la edad gestacional al parto fue 37.6 semanas (20-41 semanas). Se obtuvo un 78% de recién nacidos vivos, 12% óbitos fetales y 10% mortineonatos. Las malformaciones más frecuentes fueron cardiovasculares, sistema nervioso central, hidrops, extremidades, abdomen y genitourinario. Se realizo el estudio genético en 232 pacientes; 61% resultado normal, 12.5% trisomía 21, 8% trisomía 18, 4% trisomía 13, 4% XO, 4% otras. Se analizaron las pacientes que se acogieron a la ley de interrupción voluntaria del embarazo. CONCLUSIÓN: Destacamos la importancia de derivación a centros de referencia de pacientes con sospecha de malformaciones congénitas para un adecuado diagnostico prenatal, ofrecer un manejo con equipo multidisciplinario y así mejorar los resultados neonatales.

INTRODUCTION: The objectives of prenatal diagnosis of fetal malformations are to offer the patient and her family the proper counseling, identify those conditions that benefits of prenatal therapy and to coordinate the referral to tertiary centers to improve neonatal survival. Our hospital counts with a multidisciplinary team who evaluate the patients together. The objective of this study is to describe our experience as a referral center in prenatal diagnosis, management and neonatal outcomes in Santiago de Chile. METHODS: Retrospective and descriptive study. Patients registered in our prenatal diagnosis database between September 2010 and July 2019 were included. Clinical files were reviewed for neonatal outcomes. OUTCOMES: 404 patients with congenital malformations or aneuploidy markers were evaluated. The average gestational age of the evaluation was 29 weeks. Median gestational age to delivery was 37 weeks plus 6 days. 78% of livebirth, 12% fetal demise and 10% of neonatal death were obtained. The most frequent fetal malformations were cardiovascular, central nervous system, fetal hydrops, extremities, abdominal wall defects and urinary system. Fetal karyotype was performed in 232 patients; 61% normal karyotype, 12.5% trisomy 21, 8% trisomy 18, 4% trisomy 13, 4% monosomy X, 4% others. We also analyze the patients who agreed to termination of pregnancy according to Chilean legislation. CONCLUSION: We highlight the importance of referral of patients with suspected fetal malformations to tertiary centers for an adequate evaluation by a multidisciplinary team of specialists, to improve the survival and neonatal outcome.

Diagnóstico ecográfico prenatal de focomelia de los miembros superiores / Prenatal echographic diagnosis of phocomelia in the upper limbs

Se describe el caso clínico de una paciente de 28 años de edad, que a las 23,4 semanas de gravidez fue ingresada en el Hospital Ginecoobstétrico Docente Tamara Bunke Bider de Santiago de Cuba con el objetivo de interrumpir el embarazo, por sugerencia de los especialistas del Centro Provincial de Genética Médica, quienes habían detectado una malformación fetal (focomelia de los miembros superiores) en la ecografía del segundo trimestre. A la gestante se le realizó una histerotomía; al ser extraído el feto, se confirmó el diagnóstico ecográfico.

The case report of a 28 years patient is described, she was admitted to Tamara Bunke Bider Teaching Gynaecoobstetric Hospital in Santiago de Cuba at the 23.4 weeks of pregnancy with the objective of interrupting pregnancy, due to the specialists of the Provincial Center of Medical Genetics suggestion who had detected a fetal malformation (phocomelia of the upper limbs) in the echography of the second trimester. When the fetus was removed, a hysterectomy was carried out and the echographic diagnosis was confirmed.

Factores asociados a la presencia de fisura labiopalatina en recién nacidos en un hospital peruano de tercer nivel de atención. Un estudio de casos y controles / Factors associated to the occurrence of cleft lip and palate in newborns in a tertiary care Peruvian hospital. A case-control study

RESUMEN Objetivo: identificar los factores asociados a la presencia de fisura labial y/o palatina en recién nacidos en el Hospital Nacional Edgardo Rebagliati Martins, localizado en Lima - Perú, durante el periodo noviembre 2012 - diciembre 2016. Materiales y métodos: estudio observacional, analítico, de casos y controles emparejado, con datos del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC). Se analizaron 61 casos y 61 controles. La variable dependiente fue la presencia de fisura labial y/o palatina. Se recogieron también variables clínicas, epidemiológicas, obstétricas y prenatales. Resultados: la fisura labiopalatina con extensión completa, en el sexo masculino, fue la forma más frecuente y estuvo presente en 36 neonatos (59%), con cariotipo normal 44 (75,9%) y sin diagnóstico prenatal 40 (65,6%). Las malformaciones observadas con más frecuencia fueron las faciales 27 (44,2%) seguidas de malformaciones cardiacas (29,6%). Se construyó un modelo estadístico mediante análisis multivariado conformado por tres variables: enfermedad crónica durante el embarazo (odds ratio (OR): 3,8; intervalo de confianza al 95% (IC 95%): 1,11 - 13,08), edad materna mayor a 35 años (OR: 6,85; IC 95%: 2,69 - 17,43) y antecedente familiar (OR: 14,5; IC 95%: 1,68 - 125,56). Conclusiones: las enfermedades crónicas en el embarazo, la edad materna avanzada y el antecedente familiar fueron factores que aumentaron la presencia de fisura labial y/o palatina.

ABSTRACT Objective: to identify factors associated to the occurrence of cleft lip and/or palate in newborns in Edgardo Rebagliati-Martins National Hospital in Lima, Peru, during the time period from November 2012 until December 2016. Materials and methods: this is an analytical observational paired case-control study, with data from the Collaborative Latin-American Study of Congenital Malformations. Sixty-one cases and sixty-one controls were analyzed. The dependent variable was the presence of cleft lip and/or palate. Clinical, epidemiological, obstetric, and prenatal variables were also analyzed. Results : cleft lip/palate with complete extension predominantly in males was the most frequent form, and it was present in 36 neonates (59%), 44 of all children in the sample (75.9%) had normal karyotype, and 40 did not have a prenatal diagnosis (65.6%). Associated malformations most frequently observed were 27 facial cases (44.2%), followed by cardiac malformations (29.6%). A statistical model using multivariate analysis was built on, and this comprised three variables: chronic disease during pregnancy (odds ratio (OR): 3.8; 95% confidence interval (CI): 1.11-13.8), maternal age more than 35 years (OR: 6.85; 95% CI: 2.69-17.43), and family history (OR: 14.5; 95% CI: 1.68-125.56). Conclusions : chronic diseases during pregnancy, advanced maternal age, and family history were factors that increased the frequency of cleft lip and/or palate.

Secuestro pulmonar intralobar / Intralobar pulmonary sequestration

El secuestro pulmonar es una malformación congénita del tracto respiratorio inferior, rara e importante. En niños y adultos suele presentarse con infecciones pulmonares a repetición o crónicas severas. Se describió un caso de una paciente de 19 años de edad que tuvo un cuadro de sepsis respiratoria bajas a repetición. En los estudios de imágenes de tórax se evidenció opacidad homogénea en hemitórax derecho. Fue intervenida quirúrgicamente; se le realizó una lobectomía inferior derecha la cual fue diagnóstica para secuestro pulmonar, con evolución satisfactoria(AU)

Pulmonary sequestration is a rare and important congenital malformation of the lower respiratory tract. In children and adults, it usually presents with severe chronic or repeated lung infections. A case of a female 19-year-old patient who had recurrent lower respiratory sepsis is reported. Homogeneous opacity was evident in the chest imaging studies in the right hemithorax. She underwent surgery. A lower right lobectomy was performed, which was diagnostic for pulmonary sequestration, with satisfactory evolution(AU)

Significación del lactato sérico como biomarcador de infección del neonato intervenido quirúrgicamente / Significance of serum lactate as a biomarker of infection of the newborn undergoing surgery

Introducción: El neonato que se interviene quirúrgicamente está expuesto al desarrollo de infecciones. El lactato sérico ha sido recomendado como criterio diagnóstico de sepsis. Objetivo: Determinar la magnitud de asociación del valor del lactato sérico con la sepsis en el neonato intervenido quirúrgicamente. Métodos: Estudio entre 2013 y 2016, en el Hospital Pediátrico Universitario William Soler, en 307 neonatos intervenidos quirúrgicamente. Las variables se agruparon en: clínicas (edad gestacional, peso al nacer, causa de la intervención quirúrgica, localización de la infección) y paraclínicas (microorganismo causal, lactato sérico). Se aplicó la prueba de correlación lineal de Pearson parcial y se estimó odds ratio con el control de la variable infección (sí y no) para identificar la correlación entre los valores de lactato sérico en el preoperatorio y en el posoperatorio. Resultados: De los neonatos 63 tenían bajo peso (20,52 por ciento) y 55 eran pretérminos (17,92 por ciento). En los neonatos infectados 20,83 por ciento fueron operados por afecciones digestivas (n= 35); las infecciones sistémicas alcanzaron 67,74 por ciento (n= 42), ocasionadas en 45,24 por ciento por Cándida sp. La velocidad de cambio de los valores del lactato sérico en los infectados (p= 0,001) significó que por cada unidad en mmol/L que ascendió el lactato preoperatorio, en el posoperatorio se incrementó 0,489 mmol/L y estos cambios fueron debidos en 16,9 por ciento a los valores del lactato preoperatorio. Conclusiones: El lactato sérico está asociado a la infección en los neonatos intervenidos quirúrgicamente y es un biomarcador de sepsis útil en los cuidados intensivos neonatales(AU)

Introduction: The newborn undergoing a surgery is exposed to the development of infections. The serum lactate has been recommended as a diagnostic criterion of sepsis. Objective: To determine the magnitude of association of the value of serum lactate with sepsis in the newborn undergoing a surgery. Methods: Study conducted from 2013 to 2016 in William Soler Pediatric Teaching Hospital, to 307 newborns whom underwent surgery. The variables were grouped in: clinical (gestational age, birth weight, cause of surgical intervention, location of the infection) and paraclinical (causative microorganisms, serum lactate). The partial Pearson's test of linear correlation was applied and it was estimated the odds ratio with the control of the variable infection (yes and no) to identify correlation between serum lactate values in the preoperative and postoperative results. Results: Of the newborns, 63 were under weight (20.52 percent) and 55 were preterm infants (17.92 percent). In the infected newborns, 20.83 percent were operated due to digestive conditions (n= 35); systemic infections reached 67.74 percent (n= 42), caused in 45.24 percent by Candida sp. The rate of change of the values of serum lactate in infected subjects (p= 0.001) meant that for each unit in mmol/L in which increased the preoperative lactate, the postoperative increased 0.489 mmol/L; and these changes were due in a 16.9 percent to the values of preoperative lactate. Conclusions: The serum lactate is associated to the infection in newborns that underwent surgery and is a useful biomarker of sepsis in neonatal intensive care(AU)

Percutaneous nephrolithotomy in the pediatric age group: a study from North Karnataka

Background: Nephrolithiasis is major problem in India. It is more prevalent in northern states of India and Karnataka is not an exception to this. Percutaneous nephrolithotomy (PCNL) has been accepted globally as a safe procedure with great success rate with less complication, and it is safe, effective, and suitable for pediatric cases. The aims and objectives of the study were to evaluate the indication of PCNL in children, to identify the complication, prevention and treatment of complication and to evaluate the efficacy and safely, management of kidney stones in children.Methods: Study period Aug 2015 July 2018, total 56 cases of renal stones in pediatric age group admitted in our Hospital, a tertiary care centre. All the patients evaluated for complete urine analysis, urine culture and sensitivity, complete hemogram, renal parameter, X ray KUB (kidney, ureter, and bladder), ultrasound KUB etc.Results: Small-stone (<2 cm) seen in 21.4% and large stone 64.2%. Following complications were noted- Pelvic perforations (3.5%), fever (7.1%) and hematuria (7.1%).Conclusions: PCNL is safe and effective procedure for the managements of renal stones in children with acceptable morbidity.