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Antecedentes El conducto arterioso permeable (CAP) es un defecto cardiaco congenito y se considera un problema de salud publica. Se presenta en un alto porcentaje de recien nacidos y en algunos mayores de 1 mes. El cierre farmacologico es el tratamiento inicial preferido, ya que ha tenido excelentes resultados; sin embargo, en aquellos casos en los que no es posible, esta indicado el cierre quirurgico. Objetivo Evaluar la eficacia y la seguridad del cierre quirurgico del CAP por cirujanos pediatras sin especialidad en cirugia cardiovascular. Metodo Ensayo clinico realizado en pacientes del Hospital General de Occidente, centro hospitalario publico de segundo nivel, con diagnostico de CAP, que requirieron correccion quirurgica. Se revisaron en forma retrospectiva los expedientes de enero de 2001 a diciembre de 2018. Resultados Se incluyeron 224 pacientes divididos en dos grupos: grupo I, con 184 (82%) recien nacidos, y grupo II, con 40 (18%) ninos grandes de 2 meses a 8 anos de edad. A todos se les realizo cierre quirurgico: 3 por toracoscopia y 221 por toracotomia posterolateral izquierda. Presentaron complicaciones 36 pacientes, lo que representa el 16% del total; solo el 5.3% fueron complicaciones mayores. Fallecieron 24 pacientes en el posoperatorio, lo que representa una mortalidad del 10.7%; ninguno fallecio por complicaciones transquirurgicas. El CAP es un defecto cardiaco congenito que se presenta en alto porcentaje en pacientes prematuros. El cierre farmacologico es el principal tratamiento por tener excelentes resultados en recien nacidos; sin embargo, en aquellos casos en los que no sea posible esta indicado el cierre quirurgico. Todos los pacientes fueron operados por cirujanos pediatras generales, con una sobrevida global del 92%. Conclusiones En los hospitales donde no hay cirujano cardiovascular pediatrico ni cardiologo intervencionista, la correccion quirurgica del CAP puede ser llevada a cabo por un cirujano pediatra. La tecnica es reproducible, facil de realizar y con minimas complicaciones. Background The Patent Ductus Arteriosus (PDA) is congenital heart defect and is considered a public health problem. It occurs in a high percentage of newborns and in some older than 1 month. Pharmacological closure is the preferred initial treatment, as it has had excellent results; however, in those cases where it is not possible, surgical closure is indicated. Objective The objective is to evaluate the efficacy and safety of the surgical closure of the patent PDA when it is carried out by pediatric surgeons without specialization in cardiovascular surgery. Methods This study was conducted at the West General Hospital, a 2nd level public hospital, with the diagnosis of patent ductus arteriosus that required surgical correction. For the collection of the information, the files from January 2001 to December 2018 were retrospectively reviewed. Results 224 patients were included; divided into two groups: Group I: 184 (82%) “newborns” and Group II: 40 (18%) “big children” with ages from 2 months to 8 years. All had a surgical closure; 3 by thoracoscopy and 221 by left posterolateral thoracotomy. 36 patients presented complications representing 16% of the total of patients, only 5.3% were major complications. 24 patients died in the postoperative period, representing a mortality of 10.7%, none died due to trans-surgical complications. PDA is a congenital heart defect that occurs in a high percentage of premature patients. The pharmacological closure is the principal treatment because it has had excellent results in newborns; however, in those cases where it is not possible, surgical closure it´s indicated. All patients were operated by general pediatric surgeons, with a global survival of 92%. Conclusions We conclude that in hospitals where there is no pediatric cardiovascular surgeon or interventional cardiologist, the surgical correction of the PDA can be carried out by a general pediatric surgeon. The technique is reproducible, easy to perform and with minimal complications.

La cardiologia pediatrica y la cirugia cardiovascular han tenido avances importantes en los ultimos anos; las cardiopatias congenitas (CC) son una de las principales causas de mortalidad en ninos. Muchos de los factores que determinan la evolucion final de estos pacientes incluyen el tipo de cardiopatia y el tiempo del diagnostico y tratamiento; infortunadamente, dos de los que presentan mayores efectos son el estado socioeconomico y el area geografica de atencion en Mexico. El objetivo de este estudio es conocer el tipo de atencion para los pacientes con CC en hospitales publicos del pais. Pediatric cardiology and cardiovascular surgery have made significant advances in recent years, congenital heart diseases (CHD) are one of the leading causes of mortality in children. Many of the factors that determine the final evolution of these patients include the type of heart disease, the time of diagnosis and treatment; unfortunately, in our country, two of those greatest impact area the socioeconomic status and the geographic area of attention. The objective of this study is to know the type of care for patients with CHD in public hospitals in the country.

The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants have been associated with a rare mitochondrial disorder known as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). The targeted sequencing of 150 nuclear genes encoding respiratory chain complex subunits and proteins implicated in the oxidative phosphorylation (OXPHOS) function was performed. The oxygen consumption rate (OCR), and the extracellular acidification rate (ECAR), were measured. The enzymatic activities of Complexes I-V were analyzed spectrophotometrically. We describe a patient carrying two heterozygous EARS2 variants, c.376C&gt, T (p.Gln126*) and c.670G&gt, A (p.Gly224Ser), with infantile-onset disease and a severe clinical presentation. We demonstrate a clear defect in mitochondrial function in the patient&rsquo, s fibroblasts, suggesting the molecular mechanism underlying the pathogenicity of these EARS2 variants. Experimental validation using patient-derived fibroblasts allowed an accurate characterization of the disease-causing variants, and by comparing our patient&rsquo, s clinical presentation with that of previously reported cases, new clinical and radiological features of LTBL were identified, expanding the clinical spectrum of this disease.

In some centers, the pulse oximetry is not performed with the justification of lack of the adequate oximeter. We compared the effectiveness of two brands of oximeters to perform it.In neonates, a term of the joint housing service of the Hospital General de Occidente in Zapopan, Jalisco, Mexico, from May to November 2018, an examination of the characteristics of the American Academy of Pediatrics with both oximeters (ChoiceMMed® and Masimo SET®) was carried out, comparing the detection of critical congenital heart disease, time of intake, and false positives.In each group, 1022 patients were analyzed; with the Masimo SET® oximeter, 83 positive tests were obtained (8.12%), of which 22 cases had some heart disease (26.5%), which represents a sensitivity of 100%, specificity of 93.9%, positive predictive value of 26.5%, and negative predictive value of 100% (odds ratio [OR]: 0.73; 95% confidence interval [CI] 0.6-0.8). With the ChoiceMMed® oximeter, 168 positive tests were obtained (16.4%), of which 22 cases had some heart disease (13.09%), with a sensitivity of 100%, specificity of 85.4%, positive predictive value of 13.09%, and negative predictive value 100% (OR: 0.86; 95%CI: 0.8-0.92). Regarding the time to perform the cardiac sieve, the mean in minutes of the Masimo SET® oximeter was 5.38 and the ChoiceMMed® oximeter was 9.7 min.The ChoiceMMed® oximeter contains a large number of false positives and a greater number of echocardiograms and comparatively longer cardiac screen printing with Masimo SET®, however, both with a negative predictive value of 100% eliminating such excuses.En algunos centros el tamiz cardíaco no se realiza con la justificación de no tener el oxímetro adecuado. Comparamos la efectividad de dos marcas de oxímetros para realizarlo.En los neonatos a término del Servicio de alojamiento conjunto del Hospital General de Occidente en Zapopan Jalisco México de mayo a noviembre del 2018 se realizó tamiz cardíaco según las guías de la Academia Americana de Pediatría con dos oxímetros, el Masimo SET® (aprobado por la FDA) y el ChoiceMMed®, comparando su efectividad para la detección de cardiopatías congénitas críticas, el tiempo de toma y los falsos positivos.En cada grupo se analizaron 1,022 pacientes; con el oxímetro Massimo SET® se obtuvieron 83 pruebas positivas (8.12%) de las cuales 22 casos presentaron alguna cardiopatía (26.5%), lo que representa una sensibilidad del 100%, una especificidad del 93.9%, un valor predictivo positivo del 26.5% y un valor predictivo negativo del 100% (Odd Ratio [OR]: 0.73; IC 95%: 0.6-0.8). Con el oxímetro ChoiceMMed® se obtuvieron 168 pruebas positivas (16.4%), de las cuales 22 casos presentaron alguna cardiopatía (13.09%), con una sensibilidad del 100%, una especificidad del 85.4%, un valor predictivo positivo del 13.09% y un valor predictivo negativo del 100% (OR: 0.86; IC 95%: 0.8-0.92). En cuanto al tiempo para realizar el tamiz cardíaco, la media en minutos del oxímetro Masimo SET® fue 5.38 y del oxímetro ChoiceMMed® fue 9.7 minutos.El oxímetro ChoiceMMed® presentó mayor cantidad de falsos positivos y mayor tiempo de realización del tamiz cardíaco en comparación al Masimo SET®, sin embargo, ambos presentan un valor predictivo negativo del 100%, siendo igualmente útiles como método de detección de cardiopatías críticas.

In some centers the pulse oximetry is not performed with the justification of lack of the adequate oximeter. We compared the effectiveness of two brands of oximeters to perform it.In neonates a term of the joint housing service of a Hospital General de Occidente in Zapopan Jalisco Mexico from May-November 2018, an examination of the characteristics of the American Academy of Pediatrics with both oximeters (ChoiceMMed® and Masimo SET®) was carried out, comparing the detection of critical congenital heart disease (CCC), time of intake and false positives.In each group 1,022 patients were analyzed; with the Masimo SET® oximeter 83 positive tests were obtained (8.12%), of which 22 cases had some heart disease (26.5%), which represents a sensitivity of 100%, specificity of 93.9%, positive predictive value of 26.5% and negative predictive value of 100% (OR: 0.73; 95% CI: 0.6-0.8). With the ChoiceMMed® oximeter, 168 positive tests were obtained (16.4%), of which 22 cases had some heart disease (13.09%), with a sensitivity of 100%, specificity of 85.4%, positive predictive value of 13.09% and negative predictive value 100% (OR: 0.86; 95% CI: 0.8-0.92). Regarding the time to perform the cardiac sieve, the mean in minutes of the Masimo SET® oximeter was 5.38 and the ChoiceMMed® oximeter was 9.7 minutes.The ChoiceMMed® oximeter contains a large number of false positives and a greater number of echocardiograms and comparatively longer cardiac screen printing with Masimo SET®, however, both with a negative predictive value of 100% eliminating such excuses.En algunos centros el tamiz cardíaco no se realiza con la justificación de no tener el oxímetro adecuado. Comparamos la efectividad de dos marcas de oxímetros para realizarlo.En los neonatos a término del Servicio de alojamiento conjunto del Hospital General de Occidente en Zapopan Jalisco México de mayo a noviembre del 2018 se realizó tamiz cardíaco según las guías de la Academia Americana de Pediatría con dos oxímetros, el Masimo SET® (aprobado por la FDA) y el ChoiceMMed®, comparando su efectividad para la detección de cardiopatías congénitas críticas, el tiempo de toma y los falsos positivos.En cada grupo se analizaron 1,022 pacientes; con el oxímetro Massimo SET® se obtuvieron 83 pruebas positivas (8.12%) de las cuales 22 casos presentaron alguna cardiopatía (26.5%), lo que representa una sensibilidad del 100%, una especificidad del 93.9%, un valor predictivo positivo del 26.5% y un valor predictivo negativo del 100% (Odd Ratio [OR]: 0.73; IC 95%: 0.6-0.8). Con el oxímetro ChoiceMMed® se obtuvieron 168 pruebas positivas (16.4%), de las cuales 22 casos presentaron alguna cardiopatía (13.09%), con una sensibilidad del 100%, una especificidad del 85.4%, un valor predictivo positivo del 13.09% y un valor predictivo negativo del 100% (OR: 0.86; IC 95%: 0.8-0.92). En cuanto al tiempo para realizar el tamiz cardíaco, la media en minutos del oxímetro Masimo SET® fue 5.38 y del oxímetro ChoiceMMed® fue 9.7 minutos.El oxímetro ChoiceMMed® presentó mayor cantidad de falsos positivos y mayor tiempo de realización del tamiz cardíaco en comparación al Masimo SET®, sin embargo, ambos presentan un valor predictivo negativo del 100%, siendo igualmente útiles como método de detección de cardiopatías críticas.

BACKGROUND: Herpes simplex encephalitis can trigger autoimmune encephalitis that leads to neurological worsening. We aimed to assess the frequency, symptoms, risk factors, and outcomes of this complication. METHODS: We did a prospective observational study and retrospective analysis. In the prospective observational part of this study, we included patients with herpes simplex encephalitis diagnosed by neurologists, paediatricians, or infectious disease specialists in 19 secondary and tertiary Spanish centres (Cohort A). Outpatient follow-up was at 2, 6, and 12 months from onset of herpes simplex encephalitis. We studied another group of patients retrospectively, when they developed autoimmune encephalitis after herpes simplex encephalitis (Cohort B). We compared demographics and clinical features of patients who developed autoimmune encephalitis with those who did not, and in patients who developed autoimmune encephalitis we compared these features by age group (patients =4 years compared with patients >4 years). We also used multivariable binary logistic regression models to assess risk factors for autoimmune encephalitis after herpes simplex encephalitis. FINDINGS: Between Jan 1, 2014, and Oct 31, 2017, 54 patients with herpes simplex encephalitis were recruited to Cohort A, and 51 were included in the analysis (median age 50 years [IQR 5-68]). At onset of herpes simplex encephalitis, none of the 51 patients had antibodies to neuronal antigens; during follow-up, 14 (27%) patients developed autoimmune encephalitis and all 14 (100%) had neuronal antibodies (nine [64%] had NMDA receptor [NMDAR] antibodies and five [36%] had other antibodies) at or before onset of symptoms. The other 37 patients did not develop autoimmune encephalitis, although 11 (30%) developed antibodies (n=3 to NMDAR, n=8 to unknown antigens; p

Introduction Mutations in the titin gene (TTN) are related to a wide spectrum of disease. In recent years, congenital titinopathy has emerged as a cause of severe early onset myopathy. Case report A case of two female sisters born at 32 weeks of gestation by cesarean section, from a non-consanguineous, healthy couple. They had normal prenatal ultrasounds except from equinovarus foot in one twin. Apgar score was low at birth (6–10 at 1 and 5 min in both). Both girls needed ventilator support because of respiratory insufficiency, severe axial hypotonia, multiple joint contractures distal and proximal and multiple long bone fractures. Chromosomopathy and osteogenesis imperfect were ruled out in the Genetic unit of our institution. Cardiological studies were normal. The neurographic study performed at two months of life showed extremely low amplitudes of the CMAPs with normal conduction velocities and relative preservation of the SNAPs, without clear myopathic features or spontaneous activity in the needle EMG. The whole exome sequencing (GenExComplete) revealed two extremely rare mutations in the titin gene, only expressed in the fetal skeletal transcript of TTN. One of the twins died at 8 months of age from pneumonia and the other baby needs mechanical ventilation for life support to date. Conclusions In a case of severe congenital myopathy without cardiac involvement, it is essential to consider the global clinical context. Although very rare, mutations in the fetal skeletal transcript of TTN should be excluded.

To date, few cases of 3p proximal interstitial deletions have been reported and the phenotype and genotype correlation is not well understood. Here, we report a new case of a 3p proximal interstitial deletion. The patient is an 11-year-old female with speech and social interaction difficulties, learning disability, and slight facial dysmorphism, but no other major malformations. An 8 Mb de novo interstitial deletion at 3p14.2-p14.1, from position 60.461.316 to 68.515.453, was revealed by means of array comparative genomic hybridization and confirmed using quantitative reverse-transcription polymerase chain reaction assays. This region includes six genes:FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, andMAGI1, that are known to have a role in neurodevelopment. These genes are located on the proximal side of the deletion. We compare our case with previously well-defined patients reported in the literature and databases.

Ultraviolet-A Light Induces Micronucleated Erythrocytes in Newborn Rats Ultraviolet-A (UV-A) light induce DNA damage by creating pyrimidine dimers, or indirectly affects DNA by the formation of reactive oxygen species. The objective was to determine DNA damage by micronucleus test in neonatal rats exposed to UV-A light. Rat neonates were exposed to light from a LED lamp (control group), to UV-C light 254 nm (control group to desquamation skin) or UV-A light 365 nm and in one group the dams were supplemented with folic acid (FA), to determine micronucleated erythrocytes (MNE) and micronucleated polychromatic erythrocytes (MNPCE) in peripheral blood of offspring.

Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. The authors report the clinical outcome and correlate with genotype in 12 Spanish patients with this disease. Psychomotor regression, epilepsy, and other clinical symptoms/signs were assessed. Age at onset of clinical symptoms ranged from 18 months to 3.7 years, and they included delayed speech and simple febrile seizures followed by epilepsy. Partial seizures and myoclonic jerks occurred at an earlier age (median 3.4 and 3.7 years, respectively) than ataxia and cognitive decline (median 4 years). Clinical regression was initiated by loss of sentences (median 3.7 years) followed by loss of walking ability and absence of language (median 4.5 years). Patients showed blindness and lost sitting ability at similar age (median 5 years). The authors report 4 novel mutations in the CLN2 gene. This study provides detailed information about the natural history of this disease.

Pregnant hairless rat dams were exposed to ultraviolet-A light (UVA) to induce micronucleated erythrocytes (MNE) in their fetuses. The control group was exposed to conventional light; the experimental groups were exposed to UVA (365 nm) during gestational days 16–21. In some cases, ascorbic acid (Asc) was administered in the drinking water from gestational day 15 until delivery. Dams were sampled at 48-h intervals during gestation, from day 16 until delivery. Blood was also obtained from neonates at birth; MNE, micronucleated polychromatic erythrocytes (MNPCE), and polychromatic erythrocytes (PCE) were scored. Increased MNE and MNPCE were observed in neonates born to mothers exposed to UVA for 40, 80 or 160 min, compared to the control group. Asc treatment reduced MNE and MNPCE induction.

Herpes simplex encephalitis is the most common form of sporadic viral encephalitis. It may occur at any age, giving rise to a syndrome with a high morbidity and mortality. Its presentation may be atypical, and the initial complementary investigations nonspecific, making early diagnosis difficult and thus worsening its prognosis. This report describes four infants with herpes encephalitis presenting with an opercular syndrome that left significant sequelae after the acute episode. The opercular syndrome is characterized clinically by a disturbance of voluntary control of the facio-linguo-glosso-pharyngeal muscles, affecting speech and swallowing. Recognition of the opercular syndrome as a form of presentation of herpes encephalitis enables early diagnosis to be made in these patients, with the rapid initiation of treatment with acyclovir, improving the clinical course.

Edusepsis Study Group., Introduction Although early institution of adequate antimicrobial therapy is lifesaving in sepsis patients, optimal antimicrobial strategy has not been established. Moreover, the benefit of combination therapy over monotherapy remains to be determined. Our aims are to describe patterns of empiric antimicrobial therapy in severe sepsis, assessing the impact of combination therapy, including antimicrobials with different mechanisms of action, on mortality. Methods This is a Spanish national multicenter study, analyzing all patients admitted to ICUs who received antibiotics within the first 6 hours of diagnosis of severe sepsis or septic shock. Antibiotic-prescription patterns in community-acquired infections and nosocomial infections were analyzed separately and compared. We compared the impact on mortality of empiric antibiotic treatment, including antibiotics with different mechanisms of action, termed different-class combination therapy (DCCT), with that of monotherapy and any other combination therapy possibilities (non-DCCT). Results We included 1,372 patients, 1,022 (74.5%) of whom had community-acquired sepsis and 350 (25.5%) of whom had nosocomial sepsis. The most frequently prescribed antibiotic agents were β-lactams (902, 65.7%) and carbapenems (345, 25.1%). DCCT was administered to 388 patients (28.3%), whereas non-DCCT was administered to 984 (71.7%). The mortality rate was significantly lower in patients administered DCCTs than in those who were administered non-DCCTs (34% versus 40%; P = 0.042). The variables independently associated with mortality were age, male sex, APACHE II score, and community origin of the infection. DCCT was a protective factor against in-hospital mortality (odds ratio (OR), 0.699; 95% confidence interval (CI), 0.522 to 0.936; P = 0.016), as was urologic focus of infection (OR, 0.241; 95% CI, 0.102 to 0.569; P = 0.001). Conclusions β-Lactams, including carbapenems, are the most frequently prescribed antibiotics in empiric therapy in patients with severe sepsis and septic shock. Administering a combination of antimicrobials with different mechanisms of action is associated with decreased mortality., We received statistical support from David Suarez, MSc from Unidad de Epidemiologia, Fundación Parc Tauli, Universidad Autónoma de Barcelona. Barcelona, Spain; and data monitoring from Gemma Gomà, research nurse from Centro de Críticos, Hospital de Sabadell. Sabadell, Spain. The Edusepsis Study Group included Ana Navas, Ricard Ferrer, Antonio Artigas et al.