Partial trisomy 3p24.3 and partial monosomy 5p15.33: case report and a literature review.

We report on a preterm neonate with a deletion of the distal short arm of chromosome 5p15.33 and partial trisomy of the distal short arm of chromosome 3p24.3. The patient was the first-born monozygotic twin. There were no pertinent facial or physical features except a small lower lip hemangioma. The neonate presented with cardiac defects, which included a patent ductus arteriosus, an atrial septal defect and ventricular septal defects. After 94 days of age, however, the patient died from superior vena cava syndrome, recurrent chylothoraces and generalized anasarca. Array comparative genomic hybridization (aCGH) using a custom oligonucleotide microarray (Agilent 180,000 probe platform revealed a terminal duplication of 1,128 oligonucleotide probes from 3pter to 3p24.3, spanning approximately 20.4 megabases (Mb), and a terminal deletion of 271 oligonucleotide probes from 5pter to 5p15.33, spanning approximately 4.3 Mb. This is the first report of a patient with partial trisomy 3p24.3 and partial monosomy 5p15.33 without major dysmorphic features.

Ectopia cordis.

We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower sternum, supraumbilical abdominal wall, anterior portion of the diaphragm, and diaphragmatic portion of the pericardium associated with complex congenital heart defects. The infant died shortly after birth. We discuss this case and review the literature.

[Newborn chronic follicular conjunctivitis]. / Conjuntivitis folicular crónica en el lactante.

CASE REPORT: A case of chronic follicular conjunctivitis in an infant presenting with ptosis and dacryorrhea is reported. Polymerase chain reaction (PCR) test identified Chlamydia trachomatis as the causative agent. The patient was treated with topic and systemic erythromycin. The infection was probably transmitted during delivery. DISCUSSION: Chronic follicular conjunctivitis in infants is very uncommon in our environment. The most sensitive and specific diagnostic test is PCR. It is necessary to identify the original focus of infection and to provide specific treatment to all the carriers as soon as possible to avoid and prevent chronic complications.

[Spontaneous bacterial peritonitis caused by Listeria monocytogenes: eight case reports (1992-2017) and literature review]. / Peritonitis bacteriana espontánea por Listeria monocytogenes: presentación de ocho casos (1992- 2017) y revisión de la literatura.

OBJECTIVE: Spontaneous bacterial peritonitis (SBP) is a frequent and severe entity in patients with cirrhosis or ascites due to other causes. However, Listeria monocytogenes is a microorganism that has been scarcely identified as a causative agent of SBP. METHODS: In this study, a descriptive analysis of cases of L. monocytogenes SBP was carried out in our center for 26 years (1992-2017). RESULTS: A total of eight patients were diagnosed, with an average age of 58 years, with no differences in sex distribution and all of them were community acquired cases. Half of the patients had underlying liver disease, two of them active malignancies; one was undergoing continuous ambulatory peritoneal dialysis and the last one with hypertensive heart disease. Six (75%) of the patients received a third-generation cephalosporin as empirical treatment. The clinical course was favorable after receiving directed antibiotic treatment in five (62.5%) of the patients. However, three of them, under the age of 59, died. Serotyping of L. monocytogenes isolates revealed that half of them were serovar 4, two 1 / 2a and the remaining one 1 / 2c. All strains were susceptible to ampicillin, meropenem, erythromycin and cotrimoxazole. CONCLUSIONS: We conclude by emphasizing the importance of taking this etiology into account in patients with underlying liver disease and with clinical or laboratory data suggesting SBP, mainly due to the need for specific antibiotic treatment different from conventionally empirically used.

[Correlation between MALDI-TOF Vitek-MSTM system and conventional identification methods of gastrointestinal infection causing bacteria]. / Correlación entre el sistema de MALDI-TOF Vitek-MSTM y los métodos convencionales de identificación de bacterias causantes de infección gastrointestinal.

OBJECTIVE: Rapid identification of pathogens is essential for the diagnosis of gastrointestinal infections. Matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry has shown to be effective and fast for the identification of microorganisms. The objective of this study was to evaluate the correlation between Vitek-MSTM and conventional methods for bacterial identification causing gastrointestinal infection. METHODS: A total of 329 gastrointestinal pathogens were identified using Vitek-MSTM (v2 SARAMIS MS -ID, bioMérieux, Marcy-I´Étoile, France) and routine diagnostic methods simultaneously. In cases of discrepancy 16SrRNA gene sequencing was performed. RESULTS: The correlation between Vitek-MSTM and diagnostic methods was 100% except for Yersinia enterocolitica (94.1%), Helicobacter pylori (10%) and Aeromonas veronii (0 %). CONCLUSIONS: Vitek-MSTM is a quick and useful method for identification of enterophatogenic bacteria. It is necessary to improve the performance of the system for the identification of H. pylori and A. veronii.

WU and KI polyomavirus prevalence in invasive respiratory samples from transplant recipients in Cantabria, Spain.

BACKGROUND: WU and KI polyomaviruses were discovered in 2007 in samples of respiratory secretions of children with acute respiratory symptoms. Seroepidemiologic studies have shown that these viruses are widely distributed throughout the world, but their incidence in Spain has not been determined. In transplant patients, early detection and treatment of viral infections may influence prognosis and survival, because they are associated with increased morbidity and mortality, including graft failure. METHODS: We aimed to determine the prevalence and clinical characteristics of WU and KI polyomaviruses among patients undergoing hematologic or solid organ transplant in the Hospital Marqués de Valdecilla (Santander, Spain). An in-house polymerase chain reaction with the use of specific primers was carried out in invasive lower respiratory samples from hospitalized patients with suspected respiratory infection and/or graft dysfunction and compared with asymptomatic transplant patients. RESULTS: Overall, we obtained 5.5% KI-positive samples and 1.4% WU-positive samples, with a higher prevalence of WU and KI polyomaviruses in the symptomatic population compared with the control group. Although the data suggest that their detection in respiratory samples is sporadic and often associated with other microorganisms, we should pay special attention to their association with cases of graft failure. Studies are needed with a larger number of samples to explore the potential clinical impact of these emerging polyomaviruses in transplant recipients.

[Description of tuberculosis outbreak and usefulness of mediastinal ultrasound]. / Descripción de un brote de tuberculosis y utilidad de la ecografía mediastínica.

OBJECTIVES: Describe a school outbreak of tuberculosis and compare the features with other outbreaks. Propose mediastinal ultrasound as an aid in its diagnosis and monitoring. PATIENTS AND METHODS: Retrospective descriptive study of the transmission of tuberculosis infection in a micro-epidemic. Infection criteria: Mantoux ≥ 5mm, asymptomatic patient, with normal radiological, microbiological and analytical studies. Disease criteria: Mantoux ≥ 5mm and any of the above pathological studies. Mediastinal ultrasound was used as a complementary method of chest radiography (CXR). Computed tomography (CT) as the combined result of ultrasound and CXR was inconclusive. RESULTS: Seventeen out of 412 students were infected and 16 with tuberculosis disease. In addition, 4 out-school contacts were diagnosed of tuberculosis. CLINICAL MANIFESTATIONS: one erythema nodosum, one Henoch-Schönlein purpura, twelve with cough and fever nine. CXR results in patients: 3 normal, 7 inconclusive, and 10 with the following findings: 2 pneumonia, 2 pulmonary atelectasis, 2 primary complexes, 4 patients only with lymphadenopathy. All patients with normal or indeterminate CXR showed mediastinal lymphadenopathy visualized on ultrasound but 3 demonstrated by CT. Microbiological isolation: 6 cases (31%). CONCLUSIONS: The number of infected patients was higher compared to other outbreaks There is great variability in the diagnostic approach to tuberculosis micro-epidemics. It is complex to differentiate between infection and disease. The clinical, laboratory and CXR are nonspecific. There are patients with normal CXR, pathological ultrasound and microbiological isolation. Mediastinal ultrasound can play an important role in the diagnosis and management of tuberculosis disease.