Prevalence of Homologous Recombination Deficiency Among Patients With Germline RAD51C/D Breast or Ovarian Cancer.

Importance: RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) in these genes are associated with an increased risk of ovarian and breast cancer. Understanding the homologous recombination deficiency (HRD) status of tumors from patients with germline PVs in RAD51C/D could guide therapeutic decision-making and improve survival. Objective: To characterize the clinical and tumor characteristics of germline RAD51C/D PV carriers, including the evaluation of HRD status. Design, Setting, and Participants: This retrospective cohort study included 91 index patients plus 90 relatives carrying germline RAD51C/D PV (n = 181) in Spanish hospitals from January 1, 2014, to December 31, 2021. Genomic and functional HRD biomarkers were assessed in untreated breast and ovarian tumor samples (n = 45) from June 2022 to February 2023. Main Outcomes and Measures: Clinical and pathologic characteristics were assessed using descriptive statistics. Genomic HRD by genomic instability scores, functional HRD by RAD51, and gene-specific loss of heterozygosity were analyzed. Associations between HRD status and tumor subtype, age at diagnosis, and gene-specific loss of heterozygosity in RAD51C/D were investigated using logistic regression or the t test. Results: A total of 9507 index patients were reviewed, and 91 patients (1.0%) were found to carry a PV in RAD51C/D; 90 family members with a germline PV in RAD51C/D were also included. A total of 157 of carriers (86.7%) were women and 181 (55.8%) had received a diagnosis of cancer, mainly breast cancer or ovarian cancer. The most prevalent PVs were c.1026+5_1026+7del (11 of 56 [19.6%]) and c.709C>T (9 of 56 [16.1%]) in RAD51C and c.694C>T (20 of 35 [57.1%]) in RAD51D. In untreated breast cancer and ovarian cancer, the prevalence of functional and genomic HRD was 55.2% (16 of 29) and 61.1% (11 of 18) for RAD51C, respectively, and 66.7% (6 of 9) and 90.0% (9 of 10) for RAD51D. The concordance between HRD biomarkers was 91%. Tumors with the same PV displayed contrasting HRD status, and age at diagnosis did not correlate with the occurrence of HRD. All breast cancers retaining the wild-type allele were estrogen receptor positive and lacked HRD. Conclusions and Relevance: In this cohort study of germline RAD51C/D breast cancer and ovarian cancer, less than 70% of tumors displayed functional HRD, and half of those that did not display HRD were explained by retention of the wild-type allele, which was more frequent among estrogen receptor-positive breast cancers. Understanding which tumors are associated with RAD51C/D and HRD is key to identify patients who can benefit from targeted therapies, such as PARP (poly [adenosine diphosphate-ribose] polymerase) inhibitors.

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

BACKGROUND: Liquid biopsy and Integrative Genomic Profiling (IGP) are yet to be implemented into routine Radiation Oncology. Here we assess the utility of germline, tumour and circulating cell-free DNA-based genomic analyses for the clinical management of early-stage and oligometastatic cancer patients treated by precision radiotherapy. METHODS: We performed germline, tissue- and liquid biopsy NGS panels on 50 early-stage/oligometastatic cancer patients undergoing radiotherapy. We also monitored ctDNA variants in serial liquid biopsies collected during radiotherapy and follow-up and evaluated the clinical utility of such comprehensive approach. RESULTS: The integration of different genomic studies revealed that only 1/3 of the liquid biopsy variants are of tumour origin. Altogether, 55 tumour variants (affecting 3/4 of the patients) were considered potentially actionable (for treatment and prognosis), whereas potential follow-up biomarkers were identified in all cases. Germline cancer-predisposing variants were present in three patients, which would have not been eligible for hereditary cancer testing according to clinical guidelines. The presence of detectable ctDNA variants before radiotherapy was associated with progression-free survival both in oligometastatic patients and in those with early-stage. CONCLUSIONS: IGP provides both valuable and actionable information for personalised decision-making in Radiation Oncology.

CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.

OBJECTIVE: The biallelic inheritance of an expanded intronic pentamer (AAGGG)exp in the gene encoding replication factor C subunit 1 (RFC1) has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study describes clinical and genetic features of our patients with clinical suspicion of the syndrome. STUDY DESIGN: A retrospective descriptive study from an ataxia database comprising 500 patients. SETTING: The study was performed at the Otorhinolaryngology Department of a hospital in the north of Spain. METHODS: Specific genetic testing for CANVAS was performed in 13 patients with clinical suspicion of complete or incomplete syndrome. The clinical diagnosis was supported by quantitative vestibular hypofunction, cerebellar atrophy, and abnormal sensory nerve conduction testing. RESULTS: Nine of 13 (69%) patients met clinical diagnostic criteria for definite CANVAS disease. The first manifestation of the syndrome was lower limb dysesthesia in 8 of 13 patients and gait imbalance in 5 of 13. Eleven of 13 (85%) patients were carriers of the biallelic (AAGGG)exp in RFC1. CONCLUSION: A genetic cause of CANVAS has recently been discovered. We propose genetic screening for biallelic expansions of the AAGGG pentamer of RFC1 in all patients with clinical suspicion of CANVAS, since accurate early diagnosis could improve the quality of life of these patients.

Hipotalamotomía en pacientes con agresividad refractaria: resultados funcionales / Hypothalamotomy in patients with treatment-resistant aggressiveness: functional outcomes

INTRODUCCIÓN: La agresividad forma parte de las manifestaciones comportamentales asociadas a algunos trastornos mentales, es un síntoma de difícil manejo y, con frecuencia, es refractaria a las medidas farmacológicas. La cirugía de los trastornos del comportamiento surge como una alternativa terapéutica. Este procedimiento consiste en realizar intervenciones sobre distintas estructuras del sistema límbico, con el fin de corregir la alteración del circuito que estaría implicado en la producción de los síntomas. OBJETIVO: Describir los resultados clínicos de la hipotalamotomía posterior con gamma knife en el control de la agresividad en 20 pacientes refractarios al tratamiento, intervenidos en el Centro Médico Imbanaco entre 2013 y 2018. PACIENTES Y MÉTODOS: La gravedad de la agresividad se cuantificó mediante la escala de agresividad manifiesta (OAS) y la escala de impresión clínica global (CGI-SI), y su impacto funcional, a través de la escala de evaluación de la actividad global (EEAG). RESULTADOS: El control de la agresividad se observó en todos los pacientes tratados con hipotalamotomía posterior con gamma knife, evidenciado por la disminución en las puntuaciones de la OAS y la CGI-SI y la mejoría en la EEAG. CONCLUSIONES: La hipotalamotomía posterior muestra bajas complicaciones, seguridad en el procedimiento y buenos resultados, lo cual sugiere que podría ser una buena alternativa de tratamiento en los casos de agresividad refractaria donde las medidas farmacológicas y terapéuticas parecen agotarse

INTRODUCTION: Aggressiveness is part of the behavioural manifestations associated with some mental disorders; it is a symptom that is difficult to manage and is often resistant to pharmacological measures. Surgery for behavioural disorders emerges as a therapeutic alternative. This procedure consists in performing interventions on different structures of the limbic system in order to correct the alteration of the circuit involved in producing the symptoms. AIM: To describe the clinical outcomes of a posterior hypothalamotomy with gamma knife to control aggressiveness in 20 patients resistant to treatment, who underwent surgery at the Imbanaco Medical Centre between 2013 and 2018. PATIENTS AND METHODS: The severity of the aggressiveness was quantified using the Overt Aggression Scale (OAS) and the Clinical Global Impression Scale (CGI-SI), and its functional impact is evaluated using the Global Assessment of Functioning scale (GAF). RESULTS: Control over aggressiveness was observed in all patients treated by posterior hypothalamotomy with gamma knife, evidenced by a decrease in the scores on the OAS and CGI-SI and an improvement in the GAF. CONCLUSIONS: Posterior hypothalamotomy gives rise to few complications, is a safe procedure and offers good results, suggesting that it could be a good alternative treatment in cases of treatment-resistant aggressiveness where it seems that all the possible pharmacological and therapeutic measures have failed

Plant species richness increases with light availability, but not variability, in temperate forests understorey.

BACKGROUND: Temperate forest understorey vegetation poses an excellent study system to investigate whether increases in resource availability lead to an increase in plant species richness. Most sunlight is absorbed by the species-poor tree canopy, making the much more species-rich understorey species inhabit a severely resource-limited habitat. Additionally, the heterogeneity of light availability, resulting from management-moderated tree composition and age structure, may contribute to species coexistence. One would therefore expect that the diversity in the herb layer correlates positively with either the overall light availability, or the light heterogeneity, depending on whether resource availability or heterogeneity are more important drivers of diversity. To test this idea, we assessed variability of light conditions in 75 forest plots across three ecoregions with four different methods. RESULTS: We correlated these data with vegetation relevés and found light availability to be strongly positively correlated with understorey plant species richness, as well as with understorey cover. Light variability (assessed with two approaches) within plots was positively correlated with transmittance, but did not improve the relationship further, suggesting that the main driver of species richness in this system is the overall resource availability. Two of the three beech-dominated regions exhibited near-identical effects of light transmittance, while the third, featuring pine alongside beech and thus with the longest gradient of transmittance and lowest species richness, displayed a weaker light response. CONCLUSIONS: While site conditions are certainly responsible for the trees selected by foresters, for the resulting forest structure, and for the differences in plant species pools, our results suggest that light transmittance is a strong mediating factor of understorey plant species richness.

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

PURPOSE: In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management. METHODS: We studied 100 non-syndromic and syndromic Spanish patients with a clinical diagnosis of blindness caused by alterations on the retina, choroid, vitreous and/or optic nerve. We used a next-generation sequencing (NGS) panel (OFTALMOgenics™), developed and validated within this study, including up to 362 genes previously associated with these conditions. RESULTS: We identified the genetic cause of blindness in 45% of patients (45/100). A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer-Saldino, Bardet-Biedl, mucolipidosis and MLCRD syndromes. In two additional cases-syndromic blindness had been proposed before, but not specifically diagnosed, and one patient with Heimler syndrome had been misdiagnosed as an Usher case before testing. 33.3% of the genetically diagnosed patients (15/45) had causative variants in genes targeted by clinical trials exploring the curative potential of gene therapy approaches. CONCLUSION: Comprehensive genomic testing provided clinically relevant insights in a large proportion of blind patients, identifying potential therapeutic opportunities or previously undiagnosed syndromes in 42.2% of the genetically diagnosed cases (19/45).

Utilidad clínica de la secuenciación de nueva generación en el diagnóstico etiológico de la hipoacusia neurosensorial en una Unidad de Hipoacusia Infantil / Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit

INTRODUCCIÓN: La hipoacusia neurosensorial (HNS) es el déficit sensorial más prevalente en nuestro medio. La secuenciación genómica de nueva generación (NGS) permite obtener un diagnóstico etiológico en un alto porcentaje de pacientes. Nuestro estudio piloto muestra los resultados de la aplicación sistemática de la NGS en una Unidad de Hipoacusia Infantil, así como sus implicaciones en el manejo clínico de los pacientes y sus familiares. MATERIAL Y MÉTODO: Se incluyó a 27 pacientes diagnosticados de HNS entre 2014 y 2017 en los que se descartó una causa ambiental. El test genético consistió en un panel de genes analizados mediante NGS (panel OTOgenicsTM). Este panel ha sido diseñado para incluir genes asociados con hipoacusia neurosensorial o mixta, de inicio precoz o tardío, sindrómica y no sindrómica, independientemente de su patrón de herencia. RESULTADOS: Se obtuvo un diagnóstico genético en el 56% (15/27) de los pacientes (62% en el caso de las HNS bilaterales); 5/27 (19%) presentaron variantes patogénicas en el gen GJB2 y el resto variantes patogénicas o probablemente patogénicas en otros genes asociados con HNS aislada (PR2X2, TECTA y STRC), con HNS sindrómicas (CHD7, GATA3, COL4A5, MITF y SOX10) o con HNS sindrómicas y no sindrómicas (BSND, ACTG1 y CDH23). DISCUSIÓN: El diagnóstico etiológico de la HNS supone un desafío en la práctica clínica. Nuestra serie demuestra que es posible implementar el diagnóstico genético en la rutina asistencial y que esta información tiene implicaciones pronósticas y terapéuticas

INTRODUCTION: Sensorineural hearing loss (SNL) is the most prevalent sensory deficit in our environment. Next generation genomic sequencing (NGS) enables an aetiological diagnosis in a high percentage of patients. Our pilot study shows the results of the systematic application of NGS in a Childhood Hearing Loss Unit, as well as its implications for the clinical management of patients and their families. MATERIAL AND METHOD: We included 27 patients diagnosed with SNL between 2014 and 2017, in which an environmental cause was ruled out. The genetic test consisted of a panel of genes analyzed by NGS (OTOgenicsTM panel). This panel has been designed to include genes associated with sensorineural or mixed hearing loss, early onset or late, syndromic and non-syndromic, regardless of their inheritance pattern. RESULTS: A genetic diagnosis was obtained in 56% (15/27) of the patients (62% in the case of bilateral SNL). Of the patients, 5/27 (19%) presented pathogenic variants in the GJB2 gene and the rest pathogenic and / or probably pathogenic variants in other genes associated with isolated SNL (PR2X2, TECTA and STRC), with syndromic SNL (CHD7, GATA3, COL4A5, MITF and SOX10) or with syndromic and non-syndromic SNL (BSND, ACTG1 and CDH23). DISCUSSION: The aetiological diagnosis of SNL is a challenge in clinical practice. Our series demonstrates that it is possible to implement genetic diagnosis in the care routine and that this information has prognostic and therapeutic implications

Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit. / Utilidad clínica de la secuenciación de nueva generación en el diagnóstico etiológico de la hipoacusia neurosensorial en una Unidad de Hipoacusia Infantil.

INTRODUCTION: Sensorineural hearing loss (SNL) is the most prevalent sensory deficit in our environment. Next generation genomic sequencing (NGS) enables an aetiological diagnosis in a high percentage of patients. Our pilot study shows the results of the systematic application of NGS in a Childhood Hearing Loss Unit, as well as its implications for the clinical management of patients and their families. MATERIAL AND METHOD: We included 27 patients diagnosed with SNL between 2014 and 2017, in which an environmental cause was ruled out. The genetic test consisted of a panel of genes analyzed by NGS (OTOgenicsTM panel). This panel has been designed to include genes associated with sensorineural or mixed hearing loss, early onset or late, syndromic and non-syndromic, regardless of their inheritance pattern. RESULTS: A genetic diagnosis was obtained in 56% (15/27) of the patients (62% in the case of bilateral SNL). Of the patients, 5/27 (19%) presented pathogenic variants in the GJB2 gene and the rest pathogenic and / or probably pathogenic variants in other genes associated with isolated SNL (PR2X2, TECTA and STRC), with syndromic SNL (CHD7, GATA3, COL4A5, MITF and SOX10) or with syndromic and non-syndromic SNL (BSND, ACTG1 and CDH23). DISCUSSION: The aetiological diagnosis of SNL is a challenge in clinical practice. Our series demonstrates that it is possible to implement genetic diagnosis in the care routine and that this information has prognostic and therapeutic implications.

Developing a culturally targeted video to enhance the use of genetic counseling in Latina women at increased risk for hereditary breast and ovarian cancer.

Disparities for genetic cancer risk assessment (GCRA) for hereditary breast and ovarian cancer (HBOC) persist between Latina and non-Hispanic Whites. There are few tested culturally targeted interventions. We developed a culturally targeted video to enhance GCRA uptake in at-risk Latinas. Interviews with healthcare providers (n = 20) and at-risk Latinas (n = 20) were conducted as formative research to inform the development of the video. Findings from the formative research, health behavior conceptual models, and evidence-based risk communication strategies informed the messages for the script. Then, we conducted a focus group with at-risk Latinas (n = 7) to obtain feedback for final refinement of the script. The final video was piloted for acceptability and potential dissemination in a sample of Latino community health workers (CHWs) (n = 31). Providers and at-risk Latinas suggested using simple language and visual aids to facilitate comprehension. Participants in the focus group identified areas for further clarification (e.g., cost). The result was an 18-min video that illustrates "Rosa's" story. Rosa learns about HBOC risk factors and overcomes barriers to attend genetic counseling. CHWs reported high overall satisfaction with the video (M = 9.61, SD = .88, range 1-10). A culturally targeted video has the potential to reach underserved populations with low literacy and English proficiency.

Perforació gàstrica per cos estrany / Perforación gástrica por cuerpo extraño / Gastric perforation due to foreign body

Introducció: la ingestió de cossos estranys en l'infant és un fet accidental i freqüent. La majoria de cossos estranys ingerits són petits, roms, amb un baix percen-tatge de complicacions. Cas clínic: es descriu el cas d'un nen de 3 anys que va presentar un quadre de perforació gàstrica poc comú, secundari a la ingestió d'un pal de caramel 16 mesos abans i que inicialment va ser infravalorat. La tomografia computada abdominal va demostrar la presència d'un cos estrany suggestiu d'un pal de caramel en l'estómac, causant de perforació gàstrica amb reacció inflamatòria local. La cirurgia va confirmar el diagnòstic, i l'evolució va ser favorable. Comentaris: l'actitud que cal seguir davant la ingesta d'un cos estrany depèn de diversos factors, com ara l'edat del pacient i l'estat clínic: la mida, forma i composició de l'objecte, i la localització al moment del diagnòstic. El judici dels riscos d'aspiració, obstrucció o perforació determina la indicació, l'oportunitat i la forma de l'extracció

Introducción. La ingestión de cuerpos extraños en el niño es un hecho accidental y frecuente. La mayoría de los cuerpos extraños ingeridos son pequeños, romos, con un bajo porcentaje de complicaciones. Caso clínico. Se describe el caso de un niño de 3 años que presentó un cuadro de perforación gástrica poco común secundario a la ingestión de un palo de caramelo 16 meses antes y que inicialmente fue infravalorado. La tomografía computadorizada abdominal demostró la presencia de un cuerpo extraño sugestivo de un palo de caramelo en estómago, causante de perforación gástrica con reacción inflamatoria local. La cirugía confirmó el diagnóstico, y la evolución fue favorable. Comentarios. La actitud a seguir ante la ingestión de un cuerpo extraño depende de diversos factores, como: edad del paciente y estado clínico; tamaño, forma y composición del objeto, así como su localización en el momento del diagnóstico. El juicio de los riesgos de aspiración, obstrucción o perforación determina la indicación, oportunidad y forma de su extracción (AU)

Introduction. Accidental foreign body ingestion is frequent in children. Most of the ingested foreign bodies are small and blunt, and complications are rare. Case report. We describe the case of a 3-year-old boy who presented with gastric perforation 16 months after the ingestion of a candy stick, which was underestimated at the time of ingestion. The abdominal computed tomography disclosed the presence of the candy stick in the stomach, causing gastric perforation with an inflammatory local reaction. The patient underwent surgery, which confirmed the findings, and recovered uneventfully. Comments. The management after ingestion of foreign bodies depends on several factors, including the patient’s age and clinical condition, the size, shape, and composition of the object, and its location at the time of diagnosis. The assessment of the risks of aspiration, obstruction, or perforation determines the indication, timing, and form of extraction (AU)

Patient Outcomes of an International Telepediatric Cardiac Critical Care Program.

BACKGROUND: An optimal model for telemedicine use in the international care setting has not been established. Our objective was to describe variables associated with patient outcome during the implementation of an international pediatric cardiac critical care (PCCC) telemedicine program. MATERIALS AND METHODS: A retrospective review was performed of clinical records and a telemedicine database of patients admitted to the cardiac intensive care unit (CICU) at the Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia, during the initial 10 months of our program, compared with patients admitted during a previous period. Information collected included demographic data, cardiac diagnosis and associated factors, Risk Adjustment for Congenital Heart Surgery (RACHS)-1 classification, and perioperative events. Primary outcome was composed of CICU and hospital mortality. Secondary outcomes were CICU and hospital length of stay (LOS). RESULTS: Of the 553 patients who were included, teleconsultation was done for 71 (12.4%), with a total of 156 encounters, including 19 for patients on extracorporeal membrane oxygenation. Three hundred twenty-one recommendations were given, and 42 real-time interventions were documented. RACHS-1 distribution was similar between study periods (p=0.427). Teleconsulted patients were significantly younger (44 versus 24 months; p=0.03) and had higher surgical complexity than nonteleconsulted patients (p=0.01). RACHS-1 adjusted hospital survival was similar between study periods. CICU and hospital LOS intervals were significantly shorter in the telemedicine period (10 versus 17 days [p=0.02] and 22 versus 28 days [p<0.001]). In surgical cases, preoperative CICU LOS was significantly shorter (3 versus 6 days; p<0.001). Variables associated with hospital mortality were higher RACHS-1 categories, lower weight, bypass time longer than 150 min, and use of circulatory arrest, as well as the presence of sepsis or necrotizing enterocolitis. Those associated with increased LOS were lower weight, extracorporeal membrane oxygenation, and cross-clamp time longer than 60 min. CONCLUSIONS: An international telemedicine service in PCCC was associated with lower CICU and hospital LOS. Prospective telemedicine interventions aimed to decrease mortality and LOS should focus on patients with higher RACHS-1 categories, lower-weight infants, and those with prolonged operative time and selective perioperative complications.

International telemedicine in pediatric cardiac critical care: a multicenter experience.

OBJECTIVE: To describe our multicenter experience in telemedicine-assisted pediatric cardiac critical care (PCCC) with four hospitals in Latin America from July 2011 to June 2013. MATERIALS AND METHODS: This was a descriptive study based on telemedicine encounters related to quality of communication, assessed information, activities, and recommendations. Comparison among centers was performed. A postimplementation survey was conducted through a 5-point Likert scale questionnaire investigating acceptance among professionals involved with the telemedicine service through the assessment of general satisfaction, perception about the work system, usefulness, and impact on medical practice. RESULTS: One thousand forty consultations were conducted for 476 patients. Postoperatively, patients were distributed into Risk Adjustment Classification for Congenital Heart Surgery (RACHS-1) categories as follows: 2%, 26%, 36%, 26%, and 10% in categories 1, 2, 3, 4, and 6, respectively. A real-time intervention took place in 23% of encounters. Of the 2,173 recommendations given, 70 were related to extracorporeal membrane oxygenation management. There was a different RACHS-1 distribution and encounter characteristics among centers. From a total of 51 surveys sent, 27 responses were received, and among responders, overall satisfaction was very high (4.27 ± 0.18), as well as work system quality (4.4 ± 0.37). Telemedicine was considered useful in the cardiac intensive care unit (3.86 ± 0.60), for patient outcomes (3.8 ± 0.51), and for education (3.7 ± 0.71). There was a difference in overall satisfaction, perception about telemedicine usefulness in education, and impact on medical practice among centers. CONCLUSIONS: An international, multicenter telemedicine program in PCCC is technologically and logistically feasible. Prospective interventions in our international multicenter telemedicine program should consider differences in staff composition, perception of needs, and patient population among centers.

Discontinuation of prolonged infusions of dexmedetomidine in critically ill children with heart disease.

PURPOSE: To describe changes in hemodynamic variables, sedation, and pain score after discontinuation of prolonged infusions of dexmedetomidine in a pediatric population of critically ill cardiac patients. METHODS: Retrospective case series of patients who received continuous infusions of dexmedetomidine for longer than 3 days in a pediatric cardiac intensive care unit from 2008 to 2010. RESULTS: Sixty-two patients, age 5.2 months (range 0.3 months-17 years) and weight 5.1 kg (range 2.2-84 kg), were included. Thirty-nine patients (63%) were younger than 1 year of age. Median duration of dexmedetomidine infusion was 5.8 days (range 4-26 days) and median infusion dose was 0.71 µg/kg/h (range 0.2-2.1 µg/kg/h). Median weaning time and dose at discontinuation were 43 h (range 0-189 h) and 0.2 µg/kg/h (range 0.1-1.3 µg/kg/h). Tachycardia, transient hypertension and agitation were observed in 27, 35 and 27% of patients. Episodes of tachycardia were more frequent in children older than 1 year of age (61 vs. 8%, p < 0.001), patients who received dexmedetomidine for 4 days when compared to those who received 5 days or longer (48 vs. 17%, p = 0.011), and patients whose infusion was discontinued abruptly (42 vs. 14%, p = 0.045). Tachyarrhythmias were seen in nine patients (15%) after discontinuation of the dexmedetomidine infusion. Adequate sedation and analgesia scores at the moment of infusion discontinuation were seen in 90 and 88% of patients, respectively. CONCLUSIONS: Our study suggests that tachycardia, transient hypertension, and agitation are frequently observed in pediatric cardiac intensive care unit patients after discontinuing prolonged dexmedetomidine infusions.

Infección urinaria en niños: evaluación imagenológica / Children urinary infection: imaging assessment

La infección del tracto urinario (ITU) es frecuente en pediatría y es considerada un marcador biológico de enfermedad anatómica o funcional del aparato urinario en niños. Se realizó un estudio prospectivo en cuatro hospitales públicos de Uruguay cuyos objetivos fueron: conocer la prevalencia de enfermedad nefrourinaria asociada; comparar resultados de la cistouretrografía miccional (CUM) realizada en dos oportunidades distintas; analizar en menores de 2 años los hallazgos centellogr ficos en relación con la presencia de "par metros sugestivos de pielonefritis aguda (PNA)"; conocer la evolución centellogr fica. A todos los niños con ITU sintom tica se les realizó ecografía renal y de vías urinarias. Se practicó CUM a menores de 5 años y a mayores de esa edad en casos seleccionados, en un primer período al mes pos ITU y en el segundo se autorizó realizarla intratratamiento. Se realizó centellograma renal en agudo a los menores de 2 años y a mayores en casos seleccionados. Se incluyeron 168 niños. De las ecografías, 21 por ciento tenían alteraciones. De las CUM, 30 por ciento fueron patológicas (26 por ciento de los varones y 32 por ciento de las niñas estudiados). En el segundo período aumentaron significativamente los estudios realizados, sin diferencia en el número ni severidad de reflujo vesicoureteral (RVU) detectados (total: 26 por ciento). La mitad de los centellogramas fueron patológicos, predominantemente im genes de PNA. En los menores de 2 años con dos o m s "par metros sugestivos de PNA" la mitad de los centellogramas fueron normales. Se destaca la importancia de evaluar anatómica y funcionalmente el aparato urinario a todos los niños desde su primer ITU.

Hipersensibilidade dentinária - perspectivas atuais de tratamentos / Dentine hypersensitivity - current perspectives for the treatment

É frequente o paciente procurar o profissional relatando dor ao ingerir alimentos frios ou ao escovar os dentes, acreditando que esse desconforto tenha origem em um processo carioso. Ao exame clínico, é verificado que a origem do problema está na regiäo cervical que apresenta dentina exposta. Essa situaçäo de desconforto com o sintoma doloroso é conhecida como hipersensibilidade dentinária. No presente trabalho, fizemos uma abordagem atualizada das diferentes formas de tratamento

Uso local de antibióticos na terapia periodontal: uma boa opçäo? / The use of locally-delivered antibiotics in the periodontal therapy: is it a good choice?

A administraçäo de antibióticos e o uso de agentes antimicrobianos nas bolsas periodontais podem ser auxiliares eficazes no tratamento periodontal. Apesar da dificuldade, na maioria dos casos, em se conseguir atingir a profundidade total da bolsa, através da aplicaçäo tópica, os antibióticos säo direcionados a sítios específicos, o que reduz em muito seus efeitos colateriais. O uso local de antibióticos nos parece uma boa opçäo para complementaçäo do tratamento da doença periodontal, principalmente na localizada recorrente ou sem resposta

Retratamento endodôntico: avaliaçäo comparativa sob microscopia eletrônica de varredura / Endodontic retreatment: comparative assessment under SEM

A capacidade de limpeza das paredes dos canais radiculares foi analisada, através da Microscopia Eletrônica de Varredura, após a sua reinstrumentaçäo (terços médio e apical), utilizando-se duas técnicas de retratamento. Para o estudo, selecionaram-se 20 dentes humanos unirradiculares, que foram divididos em dois Grupos. O Grupo I foi instrumentado com limas tipo Kerr, associados a limas Hedstroen, e o Grupo II, com limas Flexofile e Hedstroen. Da análise das fotomicrografias obtidas, observou-se maior capacidade de limpeza no Grupo II

Análise radiográfica da qualidade do tratamento endodôntico da clínica de endodontia da Fo-UERJ / Radiographic analysis of endodontic therapy's quality from Fo-UERJ

Sabendo-se que a avaliaçäo da terapia endodôntica executada é parte integrante do plano de tratamento e que o exame radiográfico, embora ainda limitado, é um dos mais utilizados para este fim, o objetivo do presente trabalho foi estudar a qualidade dos tratamentos endodônticos realizados por acadêmicos na Fo-UERJ, mediante a observaçäo de 500 radiografias periapicais. Os resultados encontrados revelaram: 62,2 por cento dos pacientes eram do sexo feminino; 65 por cento dos tratamentos executados foram considerados adequados; 71,6 por cento dos elementos observados näo eram portadores de rarefaçäo óssea na regiäo periapical, sendo que, dos 28,4 por cento restantes, 50 por cento apresentavam, lesäo óssea difusa e 50 por cento, circunscrita