Vertebral coccidioidomycosis with mechanical instability treated solely with antifungals: A case report.

Surgical treatment of vertebral coccidioidomycosis presents a challenge, with an unpredictable course and uncertain results. We present a 52-year-old man with disseminated infection due to coccidioidomycosis in the thoracolumbar spine, with vertebral instability, and deferral surgical treatment due to SARS-CoV-2 contingency. Treatment with itraconazole was initiated, followed by liposomal amphotericin B and fluconazole due to a relapse. The patient was discharged long-term with voriconazole. The axial pain improved without neurological deficits. Surgical treatment was not required. 2012 Elsevier Ltd. All rights reserved.

Enzyme production by Candida albicans and Candida dubliniensis in periodontal HIV-positive patients receiving and not receiving antiretroviral therapy / Producción enzimática de Candida albicans y Candida dubliniensis de pacientes con periodontitis VIH+ con y sin tratamiento antirretroviral

ABSTRACT Candida dubliniensis (Cd) and Candida albicans (Ca) are the most frequently isolated yeasts in HIV+ patients. Some of the enzymes produced by these yeasts are considered virulence factors since they contribute to pathogenicity of Candida spp. The aim of the present study was to compare production of enzymes such as phospholipase (Ph), proteinase (P), and hemolysin (H) by Cd and Ca strains isolated from periodontal HIV-positive patients receiving and not receiving highly active antiretroviral therapy (HAART). Subgingival biofilm samples were obtained using paper points, and a sample of oral mucosa was taken using a swab. Phenotypic and molecular methods were used to isolate 39 strains of Candida, including 25 strains of Cd and 14 strains of Ca, obtained from 33 periodontal pocket samples and 6 oral mucosa samples collected from 15 HIV+ patients (8 receiving and 7 not receiving HAART). Malt egg-yolk agar, albumin agar and blood agar were used to evaluate pH, P and H production respectively. The strains were inoculated in duplicate and incubated at 37 ºC. Colony and halo diameters were measured. A greater proportion of Ca was observed in patients not receiving HAART, and a higher proportion of Cd was observed in those under HAART, Chi2 p< 0.001. Phospholipase production was observed in 92.9% percent of isolated Ca strains but in none of the isolated Cd strains. Proteinase production was high in Ca and Cd strains isolated from patients not receiving HAART. Hemolysin production was observed in all the studied strains, though it was significantly higher (p=0.04) in Ca and Cd strains isolated from patients not receiving HAART. To sum up, the proportion of Candida dubliniensis strains was highest in the subgingival biofilm of patients receiving HAART, and Cd strains were found to express fewer virulence factors than Ca strains.

RESUMEN Las levaduras más aisladas en pacientes VIH+ son Candida dubliniensis (Cd) y Candida albicans (Ca). Algunas de sus enzimas constituyen factores de virulencia ya que favorecen la diseminación tisular. El objetivo fue comparar la producción de enzimas como fosfolipasa (F), proteinasa (P) y hemolisina (H) en cepas de Cd y Ca aisladas de pacientes VIH+ tratados y no tratados con antirretrovirales (TARGA). Se realizó la toma del biofilm de placa subgingival con conos de papel y la muestra de la mucosa bucal con hisopo. Se aislaron y tipificaron por métodos fenotípicos y moleculares 39 cepas: 25 de Cd y 14 Ca, obtenidas 33 de bolsas periodontales y 6 de mucosa bucal de 15 pacientes VIH+ (8 con y 7 sin tratamiento). Se utilizó agar malta con yema de huevo, agar albúmina y agar sangre para demostrar la producción de F, P y H, respectivamente. Se inocularon por duplicado e incubaron a 37°C. Se midieron los diámetros de las colonias y los de hidrólisis alrededor de las mismas. Se observó mayor proporción de Ca en los pacientes sin tratamiento y mayor proporción de Cd en los con tratamiento; Chi2 p< 0.001. El 92,9% de las Ca estudiadas, fueron productoras de fosfolipasa. En tanto que ninguna Cd produjo la enzima. En cuanto a la producción de proteinasa se observa una alta producción tanto en las cepas de Ca, como en las Cd aisladas en los pacientes no tratados. Todas las cepas estudiadas produjeron hemolisina, observándose una diferencia estadísticamente significativa (p=0,04) en ambas especies a favor de la alta producción de la enzima en las cepas obtenidas de pacientes no tratados. Podemos concluir que en el biofilm subgingival, en los pacientes bajo TARGA, se aíslan mayor proporción de Candida dubliniensis las cuales expresan menos factores de virulencia.

Genetic polymorphisms of diabetes-related genes, their interaction with diabetes status, and breast cancer incidence and mortality: The Long Island Breast Cancer Study Project.

To examine 143 diabetes risk single nucleotide polymorphisms (SNPs), identified from genome-wide association studies, in association with breast cancer (BC) incidence and subsequent mortality. A population-based sample of Caucasian women with first primary invasive BC (n = 817) and controls (n = 1021) were interviewed to assess diabetes status. Using the National Death Index, women with BC were followed for >18 years during which 340 deaths occurred (139 BC deaths). Genotyping was done using DNA extracted from blood samples. We used unconditional logistic regression to estimate age-adjusted odds ratios and 95% confidence intervals (CIs) for BC incidence, and Cox regression to estimate age-adjusted hazard ratios and CIs for all-cause and BC-specific mortality. Twelve SNPs were associated with BC risk in additive genotype models, at α = 0.05. The top three significant SNPs included SLC30A8-rs4876369 (P = 0.0034), HHEX-rs11187146 (P = 0.0086), and CDKN2A/CDKN2B-rs1333049 (P = 0.0094). Diabetes status modified the associations between rs4876369 and rs2241745 and BC incidence, on the multiplicative interaction scale. Six SNPs were associated with all-cause (CDKAL1-rs981042, P = 0.0032; HHEX-rs1111875, P = 0.0361; and INSR-rs919275, P = 0.0488) or BC-specific (CDKN2A/CDKN2B-rs3218020, P = 0.0225; CDKAL1-rs981042, P = 0.0246; and TCF2/HNF1B-rs3094508, P = 0.0344) mortality in additive genotype models, at α = 0.05. Genetic polymorphisms that increase the risk of developing diabetes may also increase the risk of developing and dying from BC.

Participation in pediatric oncology research protocols: Racial/ethnic, language and age-based disparities.

BACKGROUND: Survival rates in pediatric oncology have improved dramatically, in part due to high patient participation in clinical trials. Although racial/ethnic inequalities in clinical trial participation have been reported in adults, pediatric data and studies comparing participation rates by socio-demographic characteristics are scarce. The goal of this study was to assess differences in research protocol participation for childhood cancer by age, sex, race/ethnicity, parental language, cancer type, and insurance status. PROCEDURE: Data on enrollment in any protocol, biospecimen, or therapeutic protocols were collected and analyzed for newly diagnosed pediatric patients with cancer from 2008-2012 at Rady Children's Hospital. RESULTS: Among the 353 patients included in the analysis, 304 (86.1%) were enrolled in any protocol. Enrollment in biospecimen and therapeutic protocols was 84.2% (261/310) and 81.1% (206/254), respectively. Logistic regression analyzes revealed significant enrollment underrepresentation in any protocol for Hispanics compared to Non-Hispanic whites (81% vs. 91%; Odds Ratio [OR], 0.43; 95% Confidence Interval [CI], 0.21-0.90; P = 0.021) and among children of Spanish-speaking vs. English-speaking parents (78% vs. 89%; OR, 0.45; 95%CI, 0.23-0.87; P = 0.016). Compared to patients aged 0-4 years, significant underrepresentation was also found among patients 15-21 years old (92% vs.72%; OR, 0.21; 95% CI, 0.09-0.48; P < 0.001). Similar trends were observed when analyzing enrollment in biospecimen and therapeutic protocols separately. CONCLUSIONS: There was significant underrepresentation in protocol participation for Hispanics, children of Spanish-speaking parents, and patients ages 15-21. Research is needed to understand barriers to research participation among these groups underrepresented in pediatric oncology clinical trials.

Epidemiology of gastrointestinal stromal tumors in the era of histology codes: results of a population-based study.

To date, all population-based epidemiologic data on gastrointestinal stromal tumor (GIST) in the United States predate the 2001 implementation of GIST-specific histology coding. As such, results from previous studies were limited because of inclusion of non-GIST abdominal or gastrointestinal sarcomas. We used a national cancer registry with modern day histologic codes to gain greater insight into the true epidemiology of GIST in the United States. We identified 6,142 patients diagnosed with GIST between 2001 and 2011 in the Surveillance, Epidemiology, and End Results database. Incidence, survival, demographic risk factors, and prognostic factors were analyzed. Annual age-adjusted incidence rose from 0.55/100,000 in 2001 to 0.78/100,000 in 2011 and increased with age, peaking among 70- to 79-year-olds (3.06/100,000). GIST was also more common in males than females [rate ratio (RR), 1.35], non-Hispanics than Hispanics (RR, 1.23), and blacks (RR, 2.07) or Asians/Pacific Islanders (RR, 1.50) than whites. The study period had 5-year overall and GIST-specific survival rates of 65% and 79%, respectively. The 5-year overall survival rates for those with localized, regional, and metastatic disease at diagnosis were 77%, 64%, and 41%, respectively. Multivariate analyses demonstrated that older age at diagnosis, male sex, black race, and advanced stage at diagnosis were independent risk factors for worse overall survival. Multivariate analysis also showed the four aforementioned characteristics, along with earlier year of diagnosis, to be independent risk factors for worse GIST-specific survival. As the first population-based, epidemiologic study of histologically confirmed disease, our findings provide a robust representation of GIST in the era of immunohistochemical diagnoses.

Concentrations of the vitamin D metabolite 1,25(OH)2D and odds of metabolic syndrome and its components.

AIM: Few epidemiological studies have investigated the association between circulating concentrations of the active vitamin D metabolite 1,25(OH)2D and metabolic syndrome. We sought to determine whether blood levels of 1,25(OH)2D are associated with metabolic syndrome and its individual components, including waist circumference, triglycerides, blood pressure, and glucose, and high-density lipoprotein. We also investigated these associations for the more abundant precursor vitamin D metabolite, 25(OH)D. METHODS: Participants from two completed clinical trials of colorectal neoplasia with available metabolic syndrome data and blood samples for measurement of 1,25(OH)2D (n=1048) and 25(OH)D (n=2096) were included. Cross-sectional analyses of the association between concentrations of 1,25(OH)2D, 25(OH)D, metabolic syndrome, and its components were conducted. RESULTS: A statistically significant inverse association was observed for circulating concentrations of 1,25(OH)2D and metabolic syndrome, with adjusted ORs (95% CIs) of 0.73 (0.52-1.04) and 0.52 (0.36-0.75) for the second and third tertiles of 1,25(OH)2D, respectively (p-trend <0.001). Significant inverse relationships were also observed between 1,25(OH)2D and high triglycerides (p-trend <0.001), and low high-density lipoprotein (p-trend <0.001). For 25(OH)D concentrations, significant inverse associations were found for metabolic syndrome (p-trend <0.01), high waist circumference (p-trend <0.04) and triglyceride levels (p-trend <0.01). Participants with 25(OH)D ≥30 ng/ml and in the highest tertile of 1,25(OH)2D demonstrated significantly lower odds of metabolic syndrome, with an OR (95% CI) of 0.38 (0.19-0.75) compared to those in the lowest category for both metabolites. CONCLUSION: These results provide new evidence that the relatively rarely-studied active hormonal form of vitamin D, 1,25(OH)2D, is associated with metabolic syndrome and its components, and confirm prior findings for 25(OH)D. The finding that 1,25(OH)2D is related to high-density lipoprotein, while 25(OH)D is not, suggests that there may be an independent mechanism of action for 1,25(OH)2D in relation to metabolic dysregulation.

Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry.

BACKGROUND: Recent genome-wide studies identified a risk locus for colorectal cancer at 18q21, which maps to the SMAD7 gene. Our objective was to confirm the association between SMAD7 SNPs and colorectal cancer risk in the multi-center Colon Cancer Family Registry. MATERIALS AND METHODS: 23 tagging SNPs in the SMAD7 gene were genotyped among 1,592 population-based and 253 clinic-based families. The SNP-colorectal cancer associations were assessed in multivariable conditional logistic regression. RESULTS: Among the population-based families, both SNPs rs12953717 (odds ratio, 1.29; 95% confidence interval, 1.12-1.49), and rs11874392 (odds ratio, 0.80; 95% confidence interval, 0.70-0.92) were associated with risk of colorectal cancer. These associations were similar among the population- and the clinic-based families, though they were significant only among the former. Marginally significant differences in the SNP-colorectal cancer associations were observed by use of nonsteroidal anti-inflammatory drugs, cigarette smoking, body mass index, and history of polyps. CONCLUSIONS: SMAD7 SNPs were associated with colorectal cancer risk in the Colon Cancer Family Registry. There was evidence suggesting that the association between rs12953717 and colorectal cancer risk may be modified by factors such as smoking and use of nonsteroidal anti-inflammatory drugs.

Estrés en dos cohortes de estudiantes de medicina de la Escuela Luis Razetti-Universidad Central de Venezuela / Stress in two cohorts of medical students from the Escuela Luis Razetti-Universidad Central de Venezuela

El estrés es un proceso de interacción entre eventos del entorno biopsicosocial. Los síntomas relacionados con este, en estudiantes de medicina, puede variar a lo largo de su carrera. Se comparó la prevalencia de estrés en estudiantes de 1º a 5º año, con el objetivo de establacer si existen diferencias significativas entre ellos. La presente fue una investigación de corte transversal observacional, no experimental. El universo fue de 481 individuos (cohortes 2009-2010). En mayo 2010 se tomó una muestra probabilística, aleatoria simple, estratificada, de 116 estudiantes de 1º año y 88 de 5º año de la Escuela Luis Razetti (total 204,42% del universo). El instrumento de evaluación fue una encuesta que constaba de datos generales, Escala de Depresión, Ansiedad y Estrés (EDAS-21) y Estratificación Social de Graffar-Méndez-Castellano. Se utilizó el programa SPSS v.10.0 para el análisis de datos, nivel de confianza 95%. Respecto a la puntuación total del EDAS-21, delos estudiantes evaluados, 64,8% presentaron estrés normal y 6,7% estrés muy severo. La prevalencia de estrés de leve a muy severo en estudiantes de 1º fue significativamente mayor que de la de los de 5º año (42,7% vs. 27,8%; P<0,05). Se encontraron diferencias significativas en la frecuencia de estrés entre los estudiantes de 1º y 5º año, siendo mayor en los de 1º; lo cual puede deberse, dentro de otros factores, a la adaptación ante situaciones que generan estrés en los mismos a lo largp de su carrera

stress is considered as an interactive process between biopsychosocial events, symptoms related to it, in medical students, may vary along their careers. Stress prevalence was compared between 1º and 5º year students, to establish if significant differences exist or not. This was a cross-sectional, observational, non-experimental research. The universe was 481 individuals (cohort 2009-2010). In may 2010 a probabilistic, simple random, stratified sample of 116 students of 1º year and 88 of 5º at the School Luis Razetti was taken (total 204,42% of the universe). The evaluation instrument was a survey form consisting on general information, Depression, Anxiety and Stress Scale (DASS-21) and the Graffar-Méndez-Castellano Social Stratification. The Software SPSS v.10.0, with a 95% confidence level, was used for data analyses. Regarding the total DASS-21 score, from the evaluated students, 64.8% presented normal stress levels and 6.7% very severe stress levels. The Low to very severe stress levels prevalence in 1st year students was significantly higher than that presented in 5th year students (42.7% vs. 27,8%; P<0.05). Significant differences on stress frequency were evidenced between 1º and 5º year students, being higher in 1º year students; wich can be due, among other factors, to the adaptacion, ocurred along the years, to situacions that generate stress on their careers

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience.

Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1-35) and 8 years (range 0.3-21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5-15) for FMF and 21 days (range 9.5-30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations.

Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia.

BACKGROUND: Vitamin D levels and calcium intake have been associated with risk of colorectal neoplasia, and genetic variation in vitamin D pathway genes may affect circulating vitamin D metabolite concentrations and/or risk for colorectal lesions. This study evaluated associations between polymorphic variation in the Gc-globulin (GC) and calcium-sensing receptor (CASR) and odds for metachronous colorectal neoplasia and vitamin D metabolite concentrations. METHODS: Participants from the Ursodeoxycholic Acid (UDCA) and Wheat Bran Fiber (WBF) trials (n = 1,439) were analyzed using a single-nucleotide polymorphism (SNP) tagging approach, with a subset (n = 404) of UDCA trial participants for whom vitamin D metabolite concentrations were also available. A total of 25 GC and 35 CASR tagSNPs were evaluated using multiple statistical methods. RESULTS: Principal components analyses did not reveal gene-level associations between GC or CASR and colorectal neoplasia; however, a significant gene-level association between GC and 25(OH)D concentrations (P < 0.01) was observed. At the individual SNP level and following multiple comparisons adjustments, significant associations were observed between seven GC (rs7041, rs222035, rs842999, rs1155563, rs12512631, rs16846876, and rs1746825) polymorphisms and circulating measures of 25(OH)D (adjusted P < 0.01) and CASR SNP rs1042636 and proximal colorectal neoplasia (adjusted P = 0.01). CONCLUSIONS: These results show a possible association between variation in CASR and odds of colorectal neoplasia as well as the potential role of variation in GC with circulating 25(OH)D concentrations. IMPACT: Additional research is warranted to determine the mechanism of GC genotype in influencing 25(OH)D concentrations and to further elucidate the role of CASR in colorectal neoplasia.

Conocimiento, actitudes y percepciones sobre VIH/SIDA e infecciones de transmisión sexual en estudiantes ingresados a odontología y medicina de una universidad venezolana / Knowledge, attitudes and perceptions about HIV/AIDS and sexually transmitted infections in new dental and medical students in a venezuelan university

En la lucha contra las infecciones de transmisión sexual (ITS) y la infección por el Virus de Inmunodeficiencia Humana (VIH)/Síndrome de Inmunodeficiencia Adquirida (SIDA) la formación y capacitación desde etapas tempranas de la carrera profesional requiere, entre otras cosas, conocer el nivel de conocimientos, actitudes y percepciones (CAP), que los estudiantes de las ciencias de la salud tienen al respecto, abordando no solo la carrera de medicina, sino otras, como es el caso de odontología. Por estas razones el objetivo de la presente investigación fue evaluar el nivel de CAP de una muestra de estudiantes de pregrado de primer año de ambas carreras de una universidad venezolana (Universidad Central de Venezuela), con respecto a las ITS e infección VIH/SIDA. Del total (n = 120), 63,3% correspondió al sexo femenino; la edad promedio fue de 18,64 años. Con respecto a la proporción de respuestas correctas o en acuerdo de toda la muestra estudiada, se encontró que del total de preguntas, el rango de respuestas correctas o en acuerdo en la población evaluada estuvo entre 60% y 100,0%, respondiendo correctamente o en acuerdo en promedio 82,6% de las respuestas (± 8,46), siendo significativamente mayor en estudiantes de medicina (84,92% ± 7,78%) que en estudiantes de odontología (80,29% ± 8,54%) (t = 3,101; p = 0,002). En términos generales se observó que los estudiantes evaluados tanto de odontología como de medicina de la principal universidad venezolana presentan un buen nivel de conocimiento básico como actitudes y percepciones adecuadas sobre el VIH/SIDA e ITS. Es importante tomar en consideración los resultados para futuros estudios y especialmente para intervenciones que permitan con ello tener una correcta actitud y percepción sobre el VIH/SIDA e ITS por parte de ellos.

In the fight against sexually transmitted infections (STI) and the Human Immunodeficiency Virus (HIV)/Acquired Immunodeficiency Syndrome (AIDS), training and capacitating since early stages of the professional career require, among other things, to address the level of knowledges,attitudes and perceptions (KAP), that health sciences students have on it; taking on consideration not just medicine, but also other areas such as dental studies. For theses reasons theobjective of this study was to assess the KAP level of a sample undergraduate studies, at 1º year of both programs from a Venezuelan university (Universidad Central de Venezuela), in regard to STI and HIV/AIDS. From the total (n=120),63.3% were females; mean age was 18.64 years old. Regard the proportion of correct or in-agreement answers, the range of them in the assessed population ranged between 60% and100.0%, being correctly or in-agreement responded, in mean, at 82.6% of the questions (±8.46), being significantly higherin medical students (84.92%±7.78%) than in dental ones(80.29%±8.54%) (t=3.101; p=0.002). In general terms, it was observed that those evaluated students, in both programs,from the main Venezuelan university presented a good level of basic knowledge as well appropriate attitudes and perceptions about STI and HIV/AIDS. It is important to consider these results in future studies and particularly for interventions in order to have a correct attitude and perception on STI and HIV/AIDS from them.

Genetic variation in the retinoid X receptor and calcium-sensing receptor and risk of colorectal cancer in the Colon Cancer Family Registry.

Genetic variants in the calcium/vitamin D metabolic pathway may be related to risk for colorectal cancer. While several investigations of vitamin D receptor (VDR) polymorphisms and colorectal cancer have been conducted, no studies to date have evaluated the association of genetic variation in the heterodimer partner for VDR, the retinoid X receptor (RXR). Another important gene in this pathway is the calcium-sensing receptor (CASR). Employing a discordant-sibship case-control design, we examined the association between single nucleotide polymorphisms (SNPs) in RXRA and CASR and risk for colorectal cancer overall and by colorectal subsite and microsatellite instability (MSI) status using data from the Colon Cancer Family Registry. No gene-level relationships between RXRA or CASR and colorectal cancer overall were observed. However, for RXRA SNP rs7861779, a high-interest SNP selected for study a priori, there was a statistically significantly increased risk for proximal colorectal cancer among those with at least one A allele [odds ratio (OR) = 1.42; 95% confidence interval (CI) = 1.03-1.97]. Another selected RXRA SNP, rs12004589, was significantly associated with risk of MSI-high cancers (OR = 2.27; 95% CI = 1.13-4.56). Additionally, CASR SNP rs1801726 was significantly associated with a reduced risk for rectal cancer (OR = 0.53; 95% CI = 0.29-0.96). These results provide support that RXRA SNPs rs7861779 and rs12004589 and CASR SNP rs1801726 may be important markers for colorectal neoplasia. Further work is needed to elucidate their role in the carcinogenic pathway.

Niño sibilante crónico y doble arcoaórtico tipo “D”: informe de un caso / Chronic wheezing child and type D double aortic arch: case report

El arco aórtico derecho con arteria innominada izquierda retroesofágica es una rara patología, que sumada a la presencia del ductus arterioso permeable o ligamento ductal izquierdo conforma un anillo vascular (doble arco aórtico de tipo D). La sospecha diagnóstica de anillo vascular es alta enlactantes con disfagia, estridor o síndromes de obstrucción bronquial a repetición; pasada esa edad, esta presunción diagnóstica es menor. En niños escolares o mayores con ralessibilantes recurrentes, prueba broncodilatadora positiva y mala evolución, además de pensar en asma como posible etiología, es menester descartar otras causas menos frecuentes. Presentamos el caso de una niña de 8 años con diagnóstico de asma con mala respuesta al tratamiento en quien se confirmó este raro tipo de anillo vascular.

Complex organization and structure of sense and antisense transcripts expressed from the DIO3 gene imprinted locus.

The human DIO3 gene and its mouse homolog, Dio3, map to chromosomes 14q32 and 12F1, respectively, and code for the type 3 deiodinase, an enzyme that inactivates thyroid hormones and is highly expressed during pregnancy and development. Mouse Dio3 is imprinted and preferentially expressed from the paternal allele in the fetus. We analyzed the human DIO3 genomic region and identified a gene (DIO3OS) that is transcribed in the antisense orientation. Multiple DIO3OS transcripts are expressed in most tissues. The structure of several DIO3OS cDNAs obtained by RT-PCR-based techniques reveals the occurrence of numerous splice variants. The exon-intron structures of DIO3OS are similar in mouse and human, but the homology of the exonic sequence is very low, except for the first exon, and no conserved open reading frame is present. We also detected DIO3 transcripts containing additional 5' untranslated sequence and a potential alternative upstream promoter for mouse Dio3. Exonic sequence of a Dio3os cDNA overlaps with the Dio3 promoter and strong promoter activity in the antisense orientation is detected in a genomic fragment located 3' of mouse and human DIO3 but not in the DIO3 promoter region. These results suggest that the DIO3 gene may lie within the structure of the antisense gene, a complex arrangement often observed in imprinted loci.

Association between Cyclooxygenase expression and colorectal adenoma characteristics.

The cyclooxygenase (COX) pathway is important in colorectal carcinogenesis with the majority of cancers overexpressing COX-2; however, the role of COX-2 in the development of colorectal adenomas is less well defined. Accordingly, we analyzed 108 colorectal adenomas for COX-1 and COX-2 transcription in archival formalin-fixed, paraffin-embedded tissue using by real-time PCR and normalized to beta-actin. Neither COX-1 nor COX-2 mRNA expression differed with regard to age or gender of the subject. COX-2 mRNA expression was significantly higher in distal adenomas (2.2 +/- 1.9) compared with proximal (0.7 +/- 0.5) adenomas (P < 0.0001) and in larger (>/=7 mm) compared with smaller (<7 mm) adenomas (2.3 +/- 2.2 and 1.7 +/- 1.3, respectively, P = 0.04). COX-2 expression did not differ significantly in tubular compared with tubulovillous adenomas, although there appeared to be a trend toward higher COX-2 expression in tubulovillous adenomas with increasing villous content. Additionally, there was not a significant difference in either COX-1 or COX-2 based on the degree of dysplasia Therefore, if COX-2 inhibitors work through a COX-2 mechanism, these agents may have differential effects on colorectal adenomas that are distal and larger.

Eritropoyetina recombinante humana (r-HuEPO) en pacientes con insuficiencia renal crónica

Se presentan 43 pacientes con insufiencia renal crónica (IRC), en hemodíalisis, con hemoglibina (HB) menor de 8 gr/dL. Se excluyeron quienes presentaron anemias por deficiencia de ácido fólico, B12, HTA de difícil control, drogadicción, hiperparatiroidismo e intoxicación por aluminio. Se administraron por vía venenosa 50 U/kg tres veces por semana de eritropoyetina recombinante humana (r-HuEPO). La edad promedio fue 40+- 17 años, con predominio del sexo masculino (57 por ciento). Después de 12 semanas de tratamiento, la Hb aumentó de 7.1+-1 a 10.5+- 1.6 gr/dL (p<0.001). Se observó una discreta leucocitosis, los niveles séricos de Na, K, Ca, Po4, Cr, aminotransferars y bilirrubinas no presentaron cambios significativos. El hierro y la ferritna sérica disminuyeron en repuesta al incremento del número de globulos rojos. Hubo aumento de la presión arterial en 17 por ciento y un paciente presentó trombosis de la fistula A-V. Conclusión: la r-HuEPO es segura y efectiva en el tratamiento de la anemia secundaria a IRC.

Morbilidad por accidentes en menores de 15 años / Accidents morbidity in children under 15

Se estudiaron los accidentes ocurridos en el Area de Salud del Policlínico :Chiqui Gómez" durante el semestre correspondiente a octubre de 1986 a marzo de 1987, con el objetivo de determinar su incidencia en atención a la edad, sexo, tipos de accidentes y lesiones, lugar de ocurrencia y sitio de atención médica inmediata. Se tomaron como muestra los 674 niños de 5 consultorios de dicha Area de Salud. Se obtuvo la información necesaria mediante visitas realizadas directamente en el hogar. Se encontró predominio de accidentes en los niños de 5 a 9 años de edad, para ser el sexo masculino el más afectado. Se demostró que los accidentes ocurren con mayor frecuencia en el hogar, y ocupan un lugar destacado las caídas y las heridas. Se enfatiza en la necesidad de incrementar las acciones educativas dirigidas a la población, tendentes a reducir los accidentes en la edad pediátrica; en dichas acciones debe participar especialmente el médico de la familia

Trastornos del sueño en niños y adolescentes con patología psiquiátrica / Sleep disorders in children and adolescents with a psychiatric disease

Con el objetivo de determinar la incidencia de trastornos del sueño en pacientes con alteraciones psiquiátricas, se estudiaron 100 niños y adolescentes que asistieron por primera vez a la consulta de Psiquiatría de nuestro hospital. Se investigaron las alteraciones del ciclo sueño-vigilia, así como las variables de interés en la aparición de trastornos del sueño, y se compararon con un grupo control de 80 sujetos, pareados en edad, dividiéndose la muestra en 3 grupos etáreos. En ambos grupos, se aplicaron encuentas y se compararon los resultados obtenidos por métodos estadísticos. Se encontró que la parasomniasy otros trastornos del sueño, así como la mayoria de las variables relacionadas con posibles causas de trastornos, aparecieron con más frecuencia en los pacientes que en el grupo control

Posibles efectos del haloperidol sobre el electroencefalograma / Possible effects of haloperidol on EEG

Se realizó un estudio electroencefalográfico longitudinal, a 6 niños y adolescentes con enfermedades psiquiátricas que habían recibido tratamiento con haloperidol. Además de la actividad lenta de regiones posteriores, reportadas habitualmente en estos casos, encontramos un patrón constante de cambios en el electroencefalograma consistente en el enlentecimiento global de la actividad de fondo con la aparición simultánea de oleadas de actividad delta monomorfa bifrontal rítmica. La aparición de las anomalías en el EEG coincidió con la mejoría clínica de los casos, en los que no se detectaron signos de intoxicación por haloperidol. Estas alteraciones del EEG desaparecieron después de suprimir el fármaco, sin que se pudiera demostrar la presencia de daño estructural del SNC. La posibilidad de una idiosincracia medicamentosa a nivel eléctrico cerebral es valorada en la discusión