A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

BACKGROUND: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets. In this study, we present a comprehensive analysis of clinical examination results from 1564 CMT1A patients sourced from a prospective natural history study conducted by the RDCRN-INC (Inherited Neuropathy Consortium). Our primary objective is to delineate extreme phenotype profiles (mild and severe) within this patient cohort, thereby enhancing our ability to detect genetic modifiers with large effects. METHODS: We have conducted large-scale statistical analyses of the RDCRN-INC database to characterize CMT1A severity across multiple metrics. RESULTS: We defined patients below the 10th (mild) and above the 90th (severe) percentiles of age-normalized disease severity based on the CMT Examination Score V2 and foot dorsiflexion strength (MRC scale). Based on extreme phenotype categories, we defined a statistically justified recruitment strategy, which we propose to use in future modifier studies. INTERPRETATION: Leveraging whole genome sequencing with base pair resolution, a future genetic modifier evaluation will include single nucleotide association, gene burden tests, and structural variant analysis. The present work not only provides insight into the severity and course of CMT1A, but also elucidates the statistical foundation and practical considerations for a cost-efficient and straightforward patient enrollment strategy that we intend to conduct on additional patients recruited globally.

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.

COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10 (CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions, including mitochondrial oxidative phosphorylation, lipid metabolism, and reactive oxygen species homeostasis. Mutations in COQ7 have been previously associated with primary CoQ10 deficiency, a clinically heterogeneous multisystemic mitochondrial disorder. We identified COQ7 biallelic variants in nine families diagnosed with distal hereditary motor neuropathy with upper neuron involvement, expending the clinical phenotype associated with defects in this gene. A recurrent p.Met1? change was identified in five families from Brazil with evidence of a founder effect. Fibroblasts isolated from patients revealed a substantial depletion of COQ7 protein levels, indicating protein instability leading to loss of enzyme function. High-performance liquid chromatography assay showed that fibroblasts from patients had reduced levels of CoQ10, and abnormal accumulation of the biosynthetic precursor DMQ10. Accordingly, fibroblasts from patients displayed significantly decreased oxygen consumption rates in patients, suggesting mitochondrial respiration deficiency. Induced pluripotent stem cell-derived motor neurons from patient fibroblasts showed significantly increased levels of extracellular neurofilament light protein, indicating axonal degeneration. Our findings indicate a molecular pathway involving CoQ10 biosynthesis deficiency and mitochondrial dysfunction in patients with distal hereditary motor neuropathy. Further studies will be important to evaluate the potential benefits of CoQ10 supplementation in the clinical outcome of the disease.

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

PURPOSE: The chaperone protein BiP is the master regulator of the unfolded protein response in the endoplasmic reticulum. BiP chaperone activity is regulated by the post-translational modification AMPylation, exclusively provided by FICD. We investigated whether FICD variants identified in patients with motor neuron disease could interfere with BiP activity regulation. METHODS: Exome sequencing was performed to identify causative pathogenic variants associated with motor neuron diseases. Functional studies were conducted on fibroblasts from patients to explore the molecular mechanism of the disease. RESULTS: We identified biallelic variants in FICD causing a neurodegenerative disease of upper and lower motor neurons. Affected individuals harbor a specific missense variant, Arg374His, positioned in the catalytic motif of the enzyme and important for adenosine triphosphate binding. The mutated residue abolishes intramolecular interaction with the regulatory residue Glu234, essential to inhibit AMPylation and to promote de-AMPylation by FICD. Consequently, fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP. CONCLUSION: Loss of BiP chaperone activity in patients likely results in a chronic impairment of the protein quality control system in the endoplasmic reticulum. These findings will guide the development of therapeutic strategies for motoneuron and related diseases linked to proteotoxic stress.

Associations of screen time with symptoms of stress, anxiety, and depression in adolescents.

OBJECTIVE: To examine the associations between self-reported screen time and symptoms of stress, anxiety, and depression in adolescents. METHODS: A cross-sectional study was conducted with 982 adolescents aged between 12 and 15 years, enrolled in public schools in Jacarezinho (PR), Brazil. Screen time was assessed by the question "Considering a typical day, how much time do you spend watching TV, playing videogame, using computer or smartphone?" The DASS-21 questionnaire (short form) was used to assess symptoms of depression, anxiety, and stress. Crude and adjusted analyses (age, sex, and maternal level of education) between screen time and mental disorders symptoms were performed using general linear regression models, with Poisson distribution, with significance level at p<0.05. RESULTS: Higher depressive symptoms were observed in adolescents who reported screen time of 4-6 hours/day (PR 1.35, 95%CI 1.13-1.61) and ≥6 hours/day (PR 1.88, 95%CI 1.62-2.19), compared with their pairs with <2 hours/day. The same was observed for anxiety symptoms with screen time of 4-6 hours/day (PR 1.23, 95%CI 1.04-1.46) and ≥6 hours/day (PR 1.50, 95%CI 1.28-1.77); and stress, with 4-6 hours/day (PR 1.25, 95%CI 1.08-1.44) and ≥6 hours/day (PR 1.49, 95%CI 1.30-1.71), also compared with their pairs with <2 hours/day. CONCLUSIONS: Screen time was positively associated with depressive, anxiety, and stress symptoms in adolescents. Special attention should be given to those who spend more than four hours a day in front of a screen.

[Gonadic histology and phenotypical maturation criteria in the marine turtles Chelonia mydas and Eretmochelys imbricata (Testudines: Chelonidae) from Cuba]. / Histología gonadal y criterios fenotípicos de maduración en las tortugas marinas Chelonia mydas y Eretmochelys imbricata (Testudines: Chelonidae) de Cuba.

Gonad maturity is usually evaluated through macroscopic analysis of the gonads. In sea turtles, the maturation stages are associated with body size, depending on the studied marine stock. Fishermen classify turtles bigger than 65.0 cm as sexually mature. If they have secondary sex characters they are recorded as breeding males. We compared body size with macroscopic and microscopic gonad characteristics in two Cuban turtles. Eighteen individuals of C. mydas and twenty of E. imbricata was obtained from the legal fishery stock of Jardines del Rey Archipelago (Cuba), from October 2005 and 2006. In males, breeding condition (maximum spermiogenesis) was checked by histological analysis of the testes. In females, sexual maturity was identified by the presence of vitellogenic follicles or ovarian corpora. Most males were immature (C. mydas: 79.0 cm; E. imbricata: 73.1+/-4.9 cm, n=3) and lacked secondary sex characters. Some E. imbricata without a developed penis were in spermatogenic stages II to IV (i.e. pubescent). Most females were immature (C. mydas: 79.6+/-7.7 cm, n=17; E. imbricata: 69.0+/-7.1 cm, n=16; i.e.prepubescent and pubescent. The prepubescent females had ovaries with previtellogenic follicles near 1.0 mm in a compact and yellowish stroma. The pubescent females had ovaries with previtellogenic follicles between 2.0 and 3.0 mm. The stroma was more loosened and irrigated than in prepubescent turtles. The finding of spermatogenic activity in pubescent males indicates asynchrony between testicular and penial development in E. imbricata. The current phenotypical approach used by fishermen is not enough to determine sexual maturation in these turtles. The minimal size tentatively should be changed to: C. mydas: above 93.0 cm and E. imbricata above 79.0 cm.

Magnetically guided central nervous system delivery and toxicity evaluation of magneto-electric nanocarriers.

Least component-based delivery of drug-tagged-nanocarriers across blood-brain-barriers (BBB) will allow site-specific and on-demand release of therapeutics to prevent CNS diseases. We developed a non-invasive magnetically guided delivery of magneto-electric nanocarriers (MENCs), ~20 nm, 10 mg/kg, across BBB in C57Bl/J mice. Delivered MENCs were uniformly distributed inside the brain, and were non-toxic to brain and other major organs, such as kidney, lung, liver, and spleen, and did not affect hepatic, kidney and neurobehavioral functioning.

[Microbiological profiling of isolates from the neonatal unit of a third-level hospital in Bogotá, Colombia]. / Perfil microbiológico de aislamientos en unidades neonatales en un hospital de tercer nivel de Bogotá, Colombia.

OBJECTIVES: Investigating the prevalence and sensitivity of germs isolated from newborn in a referral hospital in Bogotá. Suggesting an empirical antibiotic treatment for neonatal infection. METHODS: Cultures taken between February and December 2002 were analysed. Blood cultures were processed using BacT/ALERT (Durham, NC), urine cultures by UROCULT (Bio-Bacter) and catheter tips in thioglycollate. BBL CRYSTAL identification system (BD, Sparks, MD) was used for identifying germs. Antibiotic sensitivity was determined by disk diffusion. RESULTS: There were 1,097 positive aerobic and facultative aerobic germ cultures; 64.3% were Gram-positive, 30.6% Gram-negative and 4.9% were yeasts. Gram-positive germs consisted of coagulase-negative staphylococci (64.2%), enterococcus (13.8%) and coagulase-positive staphylococci (13.3%). The most frequent Gram-negatives were Klebsiella (45.2%), Eschericha coli (30.9%) and Serratia (10.1%). Staphylococcus epidermidis accounted for 64% of the coagulase-negative staphylococci. S. epidermidis susceptibility to vancomycin was 100%. Coagulase-negative staphylococci susceptibility to rifampin and amikacin was 59% and 67.4% (respectively). Coagulase-negative staphylococci resistance to beta-lactams was 86.4% (95% CI: 82.3-89.9). Coagulase-positive staphylococci sensitivity to vancomycin was 100%. Gram-negative susceptibility to imipenem was 98.1% (95% CI: 89.9-99.9), 78.1% to gentamicin (95% CI: 64.9-88.2) and 46.6% to amikacin (95% CI: 28.3-65.7). CONCLUSIONS: There was high coagulase-negative staphylococci prevalence in neonatal infection (particularly S. epidermidis). All S. epidermidis and coagulase-positive staphylococci were sensitive to vancomycin. There was increasing coagulase-negative staphylococci and Gram-negative resistance to oxacillin and amikacin, respectively.

Cuerpo extraño en la vía digestiva de un paciente con estenosis esofágica / Foreign body in the gastrointestinal tract of a patient with esophageal stricture

Los cuerpos extraños esofágicos constituyen una enfermedad relativamente frecuente en los servicios de urgencias de los centros hospitalarios, lo que hace que el profesional de la salud se enfrente con el problema de decidir una conducta expectante, solicitar esofagoscopia o indicar cirugía para lograr un resultado óptimo. Se presenta un paciente con cuerpo extraño esofágico y estenosis en el tercio superior del órgano. El cuadro clínico se caracterizó por disfagia y sialorrea. En los exámenes imagenológicos realizados se observó una imagen radiopaca a nivel del tercio superior del esófago, y mediante tomografía computarizada se constató el engrosamiento del esófago que disminuía la luz del órgano. Se extrajo mediante endoscopia rígida y el paciente egresó a los siete días sin complicaciones mediatas(AU)

Single anti-P ribosomal antibodies are not associated with lupus nephritis in patients suffering from active systemic lupus erythematosus.

BACKGROUND: In clinical practice, it is sometimes difficult to diagnose a relapse in patients suffering from systemic lupus erythematosus (SLE) and lupus nephritis (LN) having potential complications, including renal failure and death. Some immunological markers can help to determine their association with LN and, therefore, diagnose the early onset of complications. OBJECTIVES: Evaluating the association between systemic and/or kidney activity and anti-P ribosomal and anti-dsDNA antibodies in patients suffering from active SLE. METHODS: 389 patients were evaluated, 140 of whom were subsequently included in the study. The patients were divided into two groups by means of case-control studies, including Colombian patients having American College of Rheumatology (ACR) classification criteria for SLE (1997). The SLE disease activity index (SLEDAI) was applied and all patients presenting an increase of 5 or more compared to their last evaluation, as well as presenting renal manifestations, were considered to be cases; all patients had an activity score. An ELISA kit and the indirect immunofluorescence method with Crithidia luciliae were used for determining the presence of anti-P ribosomal and anti-dsDNA antibodies, respectively. RESULTS: No association was found between anti-P ribosomal antibodies and LN (p=0.2971) but anti-P ribosomal antibodies showed association with a >5 SLEDAI score (OR=4.87; 1.32-17.98 95% CI; p=0.008). The coexistence of anti-P ribosomal and anti-dsDNA antibodies was associated with LN (OR=3.52; 1.07-13.42 95% CI; p=0.019) and anti-dsDNA was associated with LN (p=0.001). CONCLUSION: There was no association between anti-P ribosomal antibodies and LN but anti-P ribosomal antibodies coexisting with anti-dsDNA antibodies was associated with LN, thereby suggesting that the coexistence of two antibodies is nephritogenic to a greater extent. Additional studies are needed to evaluate the coexistence of kidney-specific antibodies in SLE to determine the biological nature of LN.

Monitoreo hemodinámico utilizando variabilidad del volumen sistólico como parámetro para guiar el manejo de líquidos en pacientes sépticos

Se presenta una serie de casos donde se compara la variabilidad del volumen sistólico con las variables estáticas habituales en la reanimación con fluidos de pacientes sépticos.

We report a case series where the variability of the systolic volume is compared to the usual static variables of the fluid resuscitation of septic patients.

Close-packed noncircular nanodevice pattern generation by self-limiting ion-mill process.

We describe a self-limiting, low-energy argon-ion-milling process that enables noncircular device patterns, such as squares or hexagons, to be formed using precursor arrays of uniform circular openings in poly(methyl methacrylate) defined using electron beam lithography. The proposed patterning technique is of particular interest for bit-patterned magnetic recording medium fabrication, where square magnetic bits result in improved recording system performance. Bit-patterned magnetic medium is among the primary candidates for the next generation magnetic recording technologies and is expected to extend the areal bit density limits far beyond 1 Tbit/in(2). The proposed patterning technology can be applied either for direct medium prototyping or for manufacturing of nanoimprint lithography templates or ion beam lithography stencil masks that can be utilized in mass production.

Colonización del tracto digestivo en niños después de infección por gérmenes productores de betalactamasas de espectro extendido y tratamiento con carbapenems, estudio prospectivo / Gastrointestinal tract colonization in children after infection by extendedspectrum beta-lactamase producing bacteria and treatment with carbapenems: prospective study

Antecedentes. La colonización del tracto digestivo parece ser un factor de riesgo para presentar infección por microorganismos productores de betalactamasas de espectro extendido (BLEE), que puede persistir por un tiempo aún no determinado luego del tratamiento adecuado. Esta condición no ha sido suficientemente estudiada y su conocimiento es pobre. Objetivo. Determinar la persistencia de bacterias productoras de BLEE en el tracto digestivo después de un tratamiento antibiótico racional. Materiales y métodos. Se llevó a cabo un estudio prospectivo y descriptivo. En un periodo de 12 meses, se incluyeron todos los pacientes que habían presentado un cultivo positivo en cualquier muestra para Eschericia coli o Klebsiella pneumoniae productores de BLEE y que, además, habían recibido tratamiento con meropenem. Se tomaron coprocultivos de seguimiento a los 7, 14 y 30 días de iniciado el antibiótico. Resultados. De 80 pacientes con cultivo positivo para gérmenes BLEE, 47 tuvieron tratamiento con meropenem. De ellos, 10 (21,3 %) fueron positivos en coprocultivo a los siete días de iniciado el tratamiento, 4 (8,5 %) a los 14 días y ninguno a las cuatro semanas después del tratamiento. El germen más frecuente fue K. pneumoniae (60 %). Conclusiones. El tracto digestivo de los niños se comporta como un reservorio transitorio de gérmenes BLEE, y puede ser el foco de infección y contaminación para el personal asistencial y otros pacientes durante un periodo crítico de, al menos, dos semanas. La tasa de erradicación de la colonización al mes de tratamiento con meropenem, fue de 100 %.

Introduction: Gastrointestinal tract colonization seems to be a risk factor for acquiring an infection by extended-spectrum beta-lactamase (ESBL) producing bacteria. Time colonization has not been established yet, this condition has not been analyzed enough, and evidence is poor. Objective: The aim of this study was to determine the incidence of gastrointestinal tract colonization after an antibiotic therapy. Patients and methods: This was a one-year prospective descriptive study of patients who had cultures with ESBL-producing enterobacteriaceae (Klebsiella pneumonia or Escherichia coli) and received treatment with meropenem. In order to detect potential reservoirs for ESBL producing bacteria, stool cultures were done on days 7, 14 and 30 after initiating the antibiotic treatment. Results: During the study period, we included 80 cases, of which 47 received meropenem, and stool cultures were performed in these cases. There was gastrointestinal tract colonization by ESBL-producing bacteria in 21.3% (10) on day 7 of treatment, 8.5% (4) on day 14, and none on day 30. K. pneumonia, being the most frequent, was found in 60% of cultures. Conclusions: The gastrointestinal tract in children acts as a temporary reservoir for ESBL-producing bacteria and could be an infection and contamination source to medical staff and other patients during a critical period of at least two weeks. 100% of gastrointestinal tract colonization was eradicated after treatment with meropenem.

Histología gonadal y criterios fenotípicos de maduración en las tortugas marinas Chelonia mydas y Eretmochelys imbricata (Testudines: Chelonidae) de Cuba

Gonadic histology and phenotypical maturation criteria in the marine turtles Chelonia mydas and Eretmochelys imbricata (Testudines: Chelonidae) from Cuba. Gonad maturity is usually evaluated through macroscopic analysis of the gonads. In sea turtles, the maturation stages are associated with body size, depending on the studied marine stock. Fishermen classify turtles bigger than 65.0cm as sexually mature. If they have secondary sex characters they are recorded as breeding males. We compared body size with macroscopic and microscopic gonad characteristics in two Cuban turtles. Eighteen individuals of C. mydas and twenty of E. imbricata was obtained from the legal fishery stock of Jardines del Rey Archipelago (Cuba), from October 2005 and 2006. In males, breeding condition (maximum spermiogenesis) was checked by histological analysis of the testes. In females, sexual maturity was identified by the presence of vitellogenic follicles or ovarian corpora. Most males were immature (C. mydas: 79.0cm; E. imbricata: 73.1±4.9cm, n=3) and lacked secondary sex characters. Some E. imbricata without a developed penis were in spermatogenic stages II to IV (i.e. pubescent). Most females were immature (C. mydas: 79.6±7.7cm, n=17; E. imbricata: 69.0±7.1cm, n=16; i.e.prepubescent and pubescent. The prepubescent females had ovaries with previtellogenic follicles near 1.0mm in a compact and yellowish stroma. The pubescent females had ovaries with previtellogenic follicles between 2.0 and 3.0mm. The stroma was more loosened and irrigated than in prepubescent turtles. The finding of spermatogenic activity in pubescent males indicates asynchrony between testicular and penial development in E. imbricata. The current phenotypical approach used by fishermen is not enough to determine sexual maturation in these turtles. The minimal size tentatively should be changed to: C. mydas: above 93.0cm and E. imbricata above 79.0cm. Rev. Biol. Trop. 58 (1): 287-298. Epub 2010 March 01.

La madurez gonadal se suele evaluar a través del análisis macroscópico de las gónadas. En las tortugas marinas, las etapas de maduración están asociadas con el tamaño del cuerpo, dependiendo de la población estudiada. Los pescadores clasifican las tortugas que miden más de 65.0cm como maduras sexualmente. Si tienen los caracteres sexuales secundarios se registran como machos en edad reproductora. Nosotros comparáramos el tamaño del cuerpo con las características gonadales macroscópicas y microscópicas de dos tortugas de Cuba. Se obtuvieron dieciocho individuos de C. mydas y veinte de E. imbricata en la pesquería legal del Archipiélago Jardines del Rey (Cuba), entre octubre de 2005 y 2006. En los machos, el estado reproductivo (máxima espermiogénesis) se comprobó mediante el análisis histológico de los testículos. En las hembras, la madurez sexual fue identificada por la presencia de folículos vitelogénicos u ovarios corpora. La mayoría de los machos eran inmaduros (C. mydas: 79.0cm; E. imbricata: 73.1±4.9cm, n=3) y carecían de los caracteres sexuales secundarios. Algunos E. imbricata que no tenían un pene desarrollado se encontraban en fases espermatogénicas entre II y IV (p. ej. pubescentes). La mayoría de las hembras eran inmaduras (C. mydas: 79.6±7.7cm, n=17; E. imbricata: 69.0±7.1cm, n=16; p. ej. prepubescente y pubescente). Las hembras prepubescentes tenían ovarios con folículos previtelogénicos de cerca de 1.0mm en un estroma compacto y amarillento. Las hembras pubescentes tenían ovarios con folículos previtelogénicos entre 2.0 y 3.0mm. El estroma fue más distendido e irrigado que en las tortugas pubescentes. El hallazgo de actividad espermatogénica en machos pubescentes indica la asincronía entre el desarrollo de testículos y pene en E. imbricata. El criterio fenotípico actual utilizado por los pescadores no es suficiente para determinar la madurez sexual de estas tortugas. La talla mínima tentativa debe cambiar a: C. mydas: por encima de 93.0cm y E. imbricata por encima de 79.0cm.

Aislamiento de Staphylococcus epidermidis portador de integrón clase 1en un paciente con sepsis neonatal / Isolation of Staphylococcus epidermidis strain carrier of the class one integron in a septic neonatal patient

Objetivo. Determinar la presencia y secuencia del integrón clase I en un aislamiento clínico de Staphylococcus epidermidis proveniente de un neonato con diagnóstico de sepsis. Materiales y métodos. En una cepa de S. epidermidis, aislada de una muestra de hemocultivo de un neonato, se realizaron las pruebas de identificación microbiológica, susceptibilidad antimicrobiana y la caracterización molecular de los genes aac6'-aph2'', mecA, el gen de la integrasa intI1 y el gen casete aac6'. Resultados. Se identificó el gen de la integrasa intl1 y mediante secuenciación de nucleótidos se encontró una homología del 78% con las secuencias reportadas en la base de datos del NCBI para bacterias Gram negativas. También se evidenció el casete genético aac6' presente dentro del integrón clase 1, el cual acetila los aminoglucósidos para conferir resistencia a este antibiótico; como parte de la caracterización molecular se encontró la presencia del gen (aac6'-aph2''), que codifica para una enzima bifuncional que inactiva a los aminoglucósidos, y el gen mecA que confiere resistencia a los ß-lactámicos. En las pruebas de susceptibilidad se encontró resistencia a ampicilina, oxacilina y gentamicina. Conclusiones. Se reporta por primera vez en Colombia, la secuencia del gen de la integrasa intl1 en un aislamiento de S. epidermidis, proveniente de un recién nacido con sepsis neonatal de la unidad de cuidados intensivos en un hospital de tercer nivel de Bogotá. Esta integrasa ha sido relacionada sólo en integrones clase 1, los cuales se han asociado a multirresistencia en aislamientos clínicos en bacterias Gram negativas. El hallazgo de este mecanismo de resistencia, en el presente estudio realizado en una bacteria Gram positiva, sugiere la relación con transferencia horizontal de genes de resistencia entre especies, efectuado mediante la...

Objective: To determine the presence and the sequence of the class one integron in a Staphylococcus epidermidis strain isolated from a septic neonatal patient. Materials and methods: The S. epidermidis strain was isolated from a blood culture of a newborn. The microbiological identification, test of sensitivity and molecular characterization of the integrase gene int/1, the cassette gene aac6; aac6'aph2'' resistant gene to aminoglycoside antibiotics and mecA gene resistant to ß-lactamics were realized. Results: The nucleotide sequence of the integrase gen intl1 in S. epidermidis is reported, which showed a 78% similarity to the reported sequence of the NCBI data base in Gram negative bacteria. The gene cassette aac6 aac6' (aminoglycoside acetilation) was also identified within the class one integron confering aminoglycoside resistance. Through molecular characterization we also found the aminoglycoside ß-lactamics resistance genes (aac6'aph2'y mecA'); the susceptibility tests showed resistance to ampicilin, oxacilin and gentamicin. Conclusions: The nucleotide sequence of the integrase gen int/1 is reported for the first time in Colombia in a S. epidermidis strain isolated from a septic neonatal patient, at the neonatal care unit of a third level hospital in Bogotá. This integrase in class one integron was reported, which has shown multiresistance association in clinical isolates in Gram negative bacteria. The resistance mechanism found during this approach realized in Gram negative bacteria showed the evidence of an interspecies horizontal transfer especially by gene transfer or by moving elements such as integrons and gene cassettes.The molecular character of the causing agent of sepsis is important for epidemiological control of the infection and treatment in the newborn.

Perfil microbiológico de aislamientos en unidades neonatales en un hospital de tercer nivel de Bogotá, Colombia / Microbiological profiling of isolates from the neonatal unit of a third-level hospital in Bogotá, Colombia

OBJETIVOS: Investigar la prevalencia y sensibilidad de gérmenes aislados en recién nacidos hospitalizados en un hospital de referencia de Bogotá. Proponer un esquema antibiótico inicial en infecciones neonatales. MÉTODOS: Se analizaron los cultivos para aerobios y aerobios facultativos practicados entre febrero y diciembre del 2002. Los hemocultivos se procesaron en BacT/ALERT (Dirham, NC); los urocultivos en UROCULT (Bio-Bacter) y las puntas de catéter en Tioglicolato. La identificación se hizo con BBL CRYSTAL (BD, Sparks, MD). La sensibilidad se determinó por difusión de disco. RESULTADOS: Fueron positivos 1 097 de 3 710 cultivos; se aislaron 64,3 % Gram-positivos, 30,6% Gram-negativos y 4,9% Candidas. Los Gram-positivos aislados fueron: estafilococos coagulasa negativa (64,2%); Enterococcus (13,8 %) y estafilococos coagulasa positiva (13,3%). Los Gram-negativos mas frecuentes fueron Klebsielas (45,2%); Escherichia coli (30,9%) y Serratias (10,1 %). El 64% de los estafilococos coagulasa negativos fueron Stafilococcus epidermidis. La sensibilidad del S. epidermidis y los estafilococos coagulasa positivos a la vancomicina fue del 100%. Hubo 86,4% (IC95%: 82,3–89,9) de resistencia de los estafilococos coagulasa negativos a los beta-lactámicos. La sensibilidad de los Gram-negativos fue del 98,1% (IC95%: 89,9-99,9) a imipenem, 78,1% (IC95%: 64,9-88,2) a gentamicina y 46,6% (IC95%: 28,3-65,7) a amikacina. CONCLUSIONES: Se encontró una alta prevalencia de estafilococos coagulasa negativos particularmente de S. epidermidis. No se observó resistencia de S. epidermidis ni estafilococos coagulasa positivos a vancomicina. Se observa resistencia creciente de los estafilcocos coagulasa negativos a oxacilina y de los Gram-negativos a amikacina.

Reacción en cadena de la polimerasa para la detección de toxoplasma gondii en líquido amniótico. Hallazgos en 534 casos estudiados en la Fundación Gillow / Polimerase chain reaction for the detection Toxoplasma gonddi in amniotic fluid. Found in 534 cases studied in the Gillow Foundation

La infección con toxoplasma gondii durante el embarzo produce compromiso fetal en 9 a 27 por ciento de los casos cuando la gestante se infecta durante el primero o segundo trimestres y 59 por ciento si ocurre durante el tercer trimestre. La infeción fetal produce serias consecuencias. El diagnóstico de infección congénita se ha sustentado mediante estudios inmunológicos, los cuales son de difícil interpretación. Esta publicación describe nuestra experiencia con la reacción en cadena de la polimerasa (PCR) en líquido amniótico como predictor de compromiso fetal en gestantes con evidencia inmunógica de infección activa. Entre julio de 1996 y septiembre de 2000 se han evaludo 534 muestras de líquido amniótico, encontrándose una frecuencia de casos positivos del 7.1 por ciento. La frecuencia según edad gestacional fue 6.5 por ciento (12-15s); (16-19s); 20 por ciento (20-23s); 21.5 por ciento (24-27s); 17.6 por ciento (28-31 s); 12.7 por ciento (32-35 s); 1.7 por ciento (36-39s). De los 38 casos positivos 20 son clínicamente normales, uno presenta problemas visuales y otro, leve retardo en el desarrollo psicomotor. De los 16 casos restantes, se presentaron 4 muertes fetales, 11 no han podido ser seguidos y 1 no ha nacido aún. La PCR es una metodología sensible y específica para confirmar infección fetal, y permite tomar medidas terapéuticas aún desde el peiodo gestacional mejorando el pronóstico de los infantes infectados

Toxoplasmosis adquirida durante el embarazo, en el Instituto Materno Infantil en Bogotá / Acquired toxoplasmosis during pregnancy at the Instituto Materno-Infantil, Bogota

La frecuencia de la toxoplasmosis adquirida durante el embarazo, en Bogotá no se conoce con precisión. El Instituto Materno Infantil de la ciudad atiende una población de alto riesgo obstétrico y estrato socioeconómico bajo. Este estudio tuvo como objetivo determinar la frecuencia de madres con marcadores serológicos de infección reciente (IgM e IgA anti-Toxoplasma), que indican riesgo de transmisión congénita, con el fin de estimar la magnitud del problema en las gestantes del IMI. Durante el periodo de julio a diciembre de 1998 se recolectaron 637 muestras de suero de todas las pacientes que consultaban el programa de control prenatal del IMI. Todos los sueros de las gestantes se estudiaron por la técnica IFI-IgG anti-Toxoplasma y aquellas con resultados iguales o superiores a 1:1024 fueron estudiadas por la técnica ISAgA para IgM e IgA anti-Toxoplasma. En total 301 sueros fueron reactivos por IFI-IgG (47/100), 92 tuvieron títulos iguales o superiores a 1:1024. De estos últimos, 14 presentaron pruebas IgM e IgA anti-Toxoplasma positivas, lo que significa que 2,2/100 cumplen criterios de toxoplasmosis reciente. Estos resultados contrastan con reportes previos realizados en otras poblaciones de gestantes de Bogotá y justifican la realización de programas específicos de control.

Associations of screen time with symptoms of stress, anxiety, and depression in adolescents / Associação do tempo de tela com sintomas de estresse, ansiedade e depressão em adolescentes

ABSTRACT Objective: To examine the associations between self-reported screen time and symptoms of stress, anxiety, and depression in adolescents. Methods: A cross-sectional study was conducted with 982 adolescents aged between 12 and 15 years, enrolled in public schools in Jacarezinho (PR), Brazil. Screen time was assessed by the question "Considering a typical day, how much time do you spend watching TV, playing videogame, using computer or smartphone?" The DASS-21 questionnaire (short form) was used to assess symptoms of depression, anxiety, and stress. Crude and adjusted analyses (age, sex, and maternal level of education) between screen time and mental disorders symptoms were performed using general linear regression models, with Poisson distribution, with significance level at p<0.05. Results: Higher depressive symptoms were observed in adolescents who reported screen time of 4-6 hours/day (PR 1.35, 95%CI 1.13-1.61) and ≥6 hours/day (PR 1.88, 95%CI 1.62-2.19), compared with their pairs with <2 hours/day. The same was observed for anxiety symptoms with screen time of 4-6 hours/day (PR 1.23, 95%CI 1.04-1.46) and ≥6 hours/day (PR 1.50, 95%CI 1.28-1.77); and stress, with 4-6 hours/day (PR 1.25, 95%CI 1.08-1.44) and ≥6 hours/day (PR 1.49, 95%CI 1.30-1.71), also compared with their pairs with <2 hours/day. Conclusions: Screen time was positively associated with depressive, anxiety, and stress symptoms in adolescents. Special attention should be given to those who spend more than four hours a day in front of a screen.

RESUMO Objetivo: Examinar a associação entre o tempo de tela autorreportado e os sintomas de estresse, ansiedade e depressão em adolescentes. Métodos: Foi realizado estudo com delineamento transversal com 982 adolescentes entre 12-15 anos, matriculados na rede pública de ensino da cidade de Jacarezinho (PR). Para mensurar o tempo de tela, os adolescentes responderam à pergunta: "Considerando um dia típico, quanto tempo você passa assistindo TV, jogando videogame, usando computador ou smartphone?". O questionário DASS-21 (versão curta) foi utilizado para avaliar os sintomas de depressão, ansiedade e estresse. Análises brutas e ajustadas (idade, sexo e nível de escolaridade materna) entre tempo de tela e indicadores de saúde mental foram realizadas por meio do modelo de regressão linear generalizado, com distribuição de Poisson, adotando a significância de p<0,05. Resultados: Maiores sintomas depressivos foram observados em adolescentes com tempo de tela de 4-6 horas/dia (RP 1,35, IC95% 1,13-1,61) e ≥6 horas/dia (RP 1,88, IC95% 1,62-2,19) quando comparados com seus pares com ≤2 horas/dia. O mesmo foi observado para os sintomas de ansiedade com tempo de tela de 4-6 horas/dia (RP 1,23, IC95% 1,04-1,46) e ≥6 horas/dia (RP 1,50, IC95% 1,28-1,77); e estresse, com 4-6 horas/dia (RP 1,25, IC95% 1,08-1,44) e ≥6 horas/dia (RP 1,49, IC95% 1,30-1,71), também comparados com seus pares com ≤2 horas/dia. Conclusões: O tempo de tela foi associado positivamente com os sintomas de depressão, ansiedade e estresse em adolescentes. Atenção especial deve ser dada àqueles que passam mais de quatro horas por dia em frente a uma tela.

Estudio piloto de prevalencia de infección por Chlamydia trachomatis detectada por PCR en mujeres con parto prematuro / A pilot study regarding the prevalence of infection caused by Chlamydia trachomatis as detected by PCR in women undergoing premature labor in the Instituto Materno Infantil in Bogotá, Colombia

Objetivo: determinar la prevalencia de infección por C. trachomatis en mujeres con parto prematuro. Metodología: estudio de corte transversal en el que se analizaron 50 muestras de orina de mujeres que asistieron al Instituto Materno Infantil de Bogotá entre febrero y junio de 2004, quienes presentaron parto entre las 25 y las 36 semanas de gestación. Para su detección se utilizó la técnica de reacción en cadena de la polimerasa (PCR COBAS AMPLICOR CT, Roche diagnostic Systems). Resultados: se encontraron dos muestras positivas para C. trachomatis, lo que corresponde a una prevalencia del 4 por ciento (IC95 por ciento 0,5-13,7) en mujeres con parto prematuro y del 4,5 por ciento (IC95 por ciento 0,6-15,5) en pacientes con RPM. Conclusión: la C. trachomatis debe investigarse en pacientes con trabajo de parto prematuro o con RPM pretérmino, aún en ausencia del antecedente de flujo genital patológico y particularmente en quienes no se encuentra la causa del trabajo de parto prematuro.

Tratamiento endocrinológico de la endometriosis

Las modalidades actualmente disponibles para el tratamiento de la endometriosis son: la videolaparoscopia operatoria, la microcirugía, la cirugía, el tratamiento médico endocrinológico, la fertilización asistida y la analgesia con seguimiento estrecho. Aquí se discuten los fundamentos del tratamiento endocrinológico, la forma de administración y sus ventajas y desventajas, para orientar al médico en la elección individualizada de una terapia