In Vivo Ultrafast Doppler Imaging Combined with Confocal Microscopy and Behavioral Approaches to Gain Insight into the Central Expression of Peripheral Neuropathy in Trembler-J Mice.

The main human hereditary peripheral neuropathy (Charcot-Marie-Tooth, CMT), manifests in progressive sensory and motor deficits. Mutations in the compact myelin protein gene pmp22 cause more than 50% of all CMTs. CMT1E is a subtype of CMT1 myelinopathy carrying micro-mutations in pmp22. The Trembler-J mice have a spontaneous mutation in pmp22 identical to that present in CMT1E human patients. PMP22 is mainly (but not exclusively) expressed in Schwann cells. Some studies have found the presence of pmp22 together with some anomalies in the CNS of CMT patients. Recently, we identified the presence of higher hippocampal pmp22 expression and elevated levels of anxious behavior in TrJ/+ compared to those observed in wt. In the present paper, we delve deeper into the central expression of the neuropathy modeled in Trembler-J analyzing in vivo the cerebrovascular component by Ultrafast Doppler, exploring the vascular structure by scanning laser confocal microscopy, and analyzing the behavioral profile by anxiety and motor difficulty tests. We have found that TrJ/+ hippocampi have increased blood flow and a higher vessel volume compared with the wild type. Together with this, we found an anxiety-like profile in TrJ/+ and the motor difficulties described earlier. We demonstrate that there are specific cerebrovascular hemodynamics associated with a vascular structure and anxious behavior associated with the TrJ/+ clinical phenotype, a model of the human CMT1E disease.

Overview and characterization of penile cancer content across social media platforms.

Background: Social media platforms (SMP) are an emerging resource that allows physicians, patients, and families to converse on cancer prevention, diagnosis, and treatment. We aimed to characterize penile cancer (PC) content shared on SMP. Methods: We searched PC posts on Twitter, Facebook, and Instagram from July 1st, 2021, through June 30th, 2022. Two independent, blinded reviewers analyzed the hashtags: #PenileCancer, #PenileCancerAwareness, and #PenileNeoplasm. Descriptive statistics were used for posts characterization, Pearson´s correlation coefficient for associations, and Cohen's weighted kappa coefficient for inter-rater agreement rate. Results: A total of 791 posts were analyzed, with Twitter accounting for 52%, Facebook for 12.2%, and Instagram for 35.5%, and. Most posts originated from high-income countries, such as the United Kingdom (48.8%). We found no correlation between the number of posts with PC incidence (p = 0.64) or users on SMP (p = 0.27). Most accounts were classified as "support and awareness communities" (43.6%) and "physicians and clinical researchers" (38.2%). Urology was the most common medical specialty to post (60.9%), followed by oncology (11.3%). Most posts were classified as "prevention and awareness for users" (45.1%). Global inter-reviewer agreement rate was almost perfect (k=0.95; p ≤ 0.01). On Twitter, "physicians and clinical researchers" shared more content on "treatment updates and medical papers published in medical journals," while on Facebook and Instagram, "support and awareness communities" focused on "personal and support comments." Conclusion: Overall, the number of PC posts was low compared to other neoplasms across the SMP evaluated in this study. "Physicians and clinical researchers" shared more content on Twitter, while "support and awareness communities" on Facebook and Instagram. Encouraging the use of a common SMP among the medical community and general users could lead to a more effective communication between physicians, patients, and support groups, and to increased awareness of PC.

Feno-morfología de dos especies de páramo de Miconia (Melastomataceae): optimización de la floración y fructificación para mejorar la dispersión / Pheno-morphology of two paramo species of Miconia (Melastomataceae): optimization of flowering and fructification to enhance dispersal

Introducción: El Páramo es uno de los ecosistemas más afectados por actividades humanas, lo que aumenta la necesidad de estudios fenológicos como base para el manejo y la conservación. Objetivo: Describir la feno-morfología de Miconia ligustrina y Miconia elaeoides. Métodos: De septiembre 2019 a febrero 2020, y de abril 2021 hasta agosto del mismo año, se monitoreó la fenología de 12 individuos de cada especie. Adicionalmente, se vincularon datos fenológicos de ejemplares de herbario, para corroborar los resultados obtenidos. En los dos conjuntos de datos, se describió su distribución usando estadística circular, además, se obtuvieron registros de precipitación y temperatura del área. Adicionalmente, se describió la morfometría de cada especie. Resultados: El pico de floración de M. lingustrina es en abril, y la fructificación se concentra entre junio y julio; M. elaoides, florece de forma masiva en enero, con la máxima producción de frutos en mayo. Hubo correlación entre fenología y lluvias: la floración se da en época seca y la fructificación en la época lluviosa. Las especies difieren en morfología, pero, como en otras especies de Miconia, las flores y frutos son pequeños (aprox. 5 mm). Conclusión: La floración se presenta en la época seca y la fructificación en la época lluviosa, cuando las tasas de fotosíntesis son bajas y la frugivoría incrementa. Este patrón fenológico favorece la dispersión óptima de semillas.

Introduction: Paramos are among the ecosystems that are most affected by anthropic activities, increasing the need for phenological studies as a basis for management and conservation. Objective: To describe the pheno-morphology of Miconia ligustrina and Miconia elaeoides. Methods: From September 2019 to February 2020, and from April 2021 to August of the same year, the phenology of 12 individuals of each species was monitored. Additionally, phenological data of herbariums were linked to corroborate obtained results. In the two data sets, distribution of data was described using circular statistics; in addition, we recorded the precipitation and temperature in the area. Additionally, we described the morphometry of each species. Results: The flowering peak of M. ligustrina is in April, and fruiting concentrates between June and July; in M. elaeoides, flowering is massive in January, and the highest fruit production in May. The phenology was correlated with rainfall: flowering takes place in the dry season and fruiting in the rainy season. The species differ morphologically, but, as in other Miconia species, the flowers and fruits are small (approx. 5 mm). Conclusions: Flowering occurs in the dry season and fructification in the rainy season, when the photosynthetic rate is low and frugivory increases. This phenological pattern favors optimal seed dispersal.

[Monkeypox and exudative pharyngitis in Argentina]. / Viruela símica y faringitis exudativa en Argentina.

Since May 2022, monkeypox cases have been reported in non-endemic countries with different characteristics from the traditional description of the disease, predominantly in men who have sex with men, with possible sexual transmission and with no documentation of mortality to date. We report what would be the first patient diagnosed in Argentina with no travel nexus to countries with viral circulation. Young, bisexual man, on antiretroviral HIV pre-exposure prophylaxis, whose presentation was exudative pharyngitis with no other documented aetiology and lymphadenopathy that progressed to necrosis, presence of characteristic asynchronous lesions on the face, neck, abdomen, extremities, and genitals, in a total of no more than 25. Polymerase-chain-reaction assay of samples from skin lesions, fauces exudate and semen were positive for monkeypox. Pharyngeal involvement with the presence of exudate after ruling out other infections could be a rarity for the epidemic form of the disease. The finding of the virus in semen, already reported in other publications, is still not enough to confirm the sexual route as a form of transmission. In conclusion: Our case warns about other possible forms of presentation of epidemic monkeypox and the need to increase the level of suspicion for its early detection as a strategy to prevent dissemination and protect vulnerable groups. Even more information is required to determine the sexual transmission of this disease.

Desde mayo de 2022 se han notificado casos de viruela símica en países no endémicos con características diferentes a la descripción tradicional de la enfermedad, predominio en población de hombres que tienen sexo con hombres, posible transmisión sexual y ausencia de mortalidad a la fecha. Reportamos el que sería el primero diagnosticado en Argentina sin nexo de viaje a países con circulación viral. Se trata de un hombre joven, bisexual, en profilaxis antirretroviral de pre-exposición al HIV, cuya forma de presentación fue faringitis exudativa sin otra etiología documentada y adenopatías que evolucionaron a la necrosis, presencia de lesiones asincrónicas características en cara, cuello, abdomen, extremidades y genitales. El diagnóstico fue por detección de ADN viral por reacción en cadena de la polimerasa en lesiones de piel, exudado de fauces y semen. El compromiso faríngeo con presencia de exudado luego del descarte de otras infecciones, podría ser una rareza para la forma epidémica de la enfermedad. El hallazgo del virus en semen ya reportado en otras publicaciones no es suficiente aún para confirmar la vía sexual como forma de trasmisión. En conclusión, nuestro caso alerta sobre otras posibles formas de presentación de la viruela símica epidémica y la necesidad de aumentar el nivel de sospecha para su detección precoz, como estrategia para evitar la diseminación y proteger a grupos vulnerables. Se requiere aún más información para determinar la transmisión sexual de esta enfermedad.

Viruela símica y faringitis exudativa en Argentina / Monkeypox and exudative pharyngitis in Argentina

Resumen Desde mayo de 2022 se han notificado casos de viruela símica en países no endémicos con características diferentes a la descripción tradicional de la enfermedad, predominio en población de hombres que tienen sexo con hombres, posible transmisión sexual y ausencia de mortalidad a la fecha. Reporta mos el que sería el primero diagnosticado en Argentina sin nexo de viaje a países con circulación viral. Se trata de un hombre joven, bisexual, en profilaxis antirretroviral de pre-exposición al HIV, cuya forma de presentación fue faringitis exudativa sin otra etiología documentada y adenopatías que evolucionaron a la necrosis, presencia de lesiones asincrónicas características en cara, cuello, abdomen, extremidades y genitales. El diagnóstico fue por detección de ADN viral por reacción en cadena de la polimerasa en lesiones de piel, exudado de fauces y semen. El compromiso faríngeo con presencia de exudado luego del descarte de otras infecciones, podría ser una rareza para la forma epidémica de la enfermedad. El hallazgo del virus en semen ya reportado en otras publica ciones no es suficiente aún para confirmar la vía sexual como forma de trasmisión. En conclusión, nuestro caso alerta sobre otras posibles formas de presentación de la viruela símica epidémica y la necesidad de aumentar el nivel de sospecha para su detección precoz, como estrategia para evitar la diseminación y proteger a grupos vulnerables. Se requiere aún más información para determinar la transmisión sexual de esta enfermedad.

Abstract Since May 2022, monkeypox cases have been reported in non-endemic countries with different charac teristics from the traditional description of the disease, predominantly in men who have sex with men, with possible sexual transmission and with no documentation of mortality to date. We report what would be the first patient diag nosed in Argentina with no travel nexus to countries with viral circulation. Young, bisexual man, on antiretroviral HIV pre-exposure prophylaxis, whose presentation was exudative pharyngitis with no other documented aetiology and lymphadenopathy that progressed to necrosis, presence of characteristic asynchronous lesions on the face, neck, abdomen, extremities, and genitals, in a total of no more than 25. Polymerase-chain-reaction assay of samples from skin lesions, fauces exudate and semen were positive for monkeypox. Pharyngeal involvement with the presence of exudate after ruling out other infections could be a rarity for the epidemic form of the disease. The finding of the virus in semen, already reported in other publications, is still not enough to confirm the sexual route as a form of transmission. In conclusion: Our case warns about other possible forms of presentation of epidemic monkeypox and the need to increase the level of suspicion for its early detection as a strategy to prevent dissemination and protect vulnerable groups. Even more information is required to determine the sexual transmission of this disease.

Respuesta inmunológica a varias proteínas del H. pylori en pacientes guatemaltecos / Inmune response to various H. pylori proteins in Guatemalan patients

Se determinó la respuesta inmunológica a proteínas recombinantes de Helicobacter pylori en pacientes dis-pépticos (adultos y niños), pacientes con cáncer gástrico y sus familiares asintomáticos adultos viviendo con ellos. Se utilizó la prueba recomLine® Helicobacter IgG e IgA, y con base en el reconocimiento de los factores de virulencia VacA y CagA se determinó si la cepa de H. pylori era de tipo I o II. El análisis de los datos fue descriptivo y analítico y se estimaron los intervalos de confianza de 95%, con un nivel de error de 0.05 y Odds ratio. El 58.7% (121/206) de los pacientes presentó la bacteria en tinción histológica de biopsia, positividad que disminuyó con la edad y daño histológico. La frecuencia de la respuesta a los anticuerpos IgG fue mayor que IgA, en ambos casos ésta fue menor en los niños. Las proteínas del H. pylori más reconocidas tanto por IgA como IgG fueron VacA y CagA, y la respuesta a las otras proteínas investigadas fue mayor al aumentar el daño histológi-co. La cepa tipo I fue la que predominó en la población en estudio con 66% (136/206). Se deben continuar con los estudios de prevalencia de la cepa tipo I del H. pylori y del reconocimiento de sus antígenos en la población guatemalteca a fin de determinar su utilidad en el diagnóstico y pronóstico de la infección.

The immune response to recombinant Helicobacter pylori proteins was determined in dyspeptic patients (adults and children), patients with gastric cancer and their asymptomatic adults' relatives living with them. The recomLine® Helicobacter IgG and IgA test was used and based on the recognition of the virulence factors VacA and CagA, it was determined whether the H. pylori strain was type I or II. The data analysis was descriptive and analytic, and 95% confidence intervals were estimated, with an error level of 0.05, and Odds ratio. The patients that presented the bacterium in histological biopsy were 58.7% (121/206), positivity that decreased with age and histological damage. The frecuency of response to IgG antibodies was higher than IgA, in both cases it was lower in children. VacA and CagA were the H. pylori proteins most recognized by both IgA and IgG and it was observed that the number of recognized proteins was greater with increasing histological damage. The type I strain was the one that predominated in the study population 66% (136/206). Prevalence studies of the type I strain of H. pylori ant the recognition of its antigens in the Guatemalan population should continue in order to determine its usefulness in the diagnosis and prognosis of infection.

Suicide prevention skills, confidence and training: Results from the Zero Suicide Workforce Survey of behavioral health care professionals.

INTRODUCTION: In behavioral health care settings, a workforce well trained in suicide prevention is critically important for behavioral health care professionals across different disciplines and service sectors who are likely to have considerable exposure to patients at risk for suicidal behavior. This study examined the types of training behavioral health care professionals received, their self-reported skills, comfort level and confidence related to suicide prevention, the association of types and length of training with skills, comfort level and confidence, and areas in which participants would like more training. METHODS: The Zero Suicide Workforce Survey was administered electronically to behavioral health care professionals at six behavioral health treatment centers with both inpatient and ambulatory programs in Connecticut, USA. Item numbers and percentages were calculated for 847 respondents with behavioral health care roles. The chi-square tests were performed to determine the statistical significance of group differences. Non-parametric sign tests were performed to determine the statistical significance of the collective differences in direction among items between groups. RESULTS: Suicide prevention training is associated with increased levels of behavioral health care professionals' skills and confidence, but one-third of behavioral health care professionals in the sample received no formal training in suicide prevention/intervention. Even brief training appears to have a positive impact on behavioral health care professionals' assessment of their skills and confidence. Prominent topics for additional training include suicide-specific treatment approaches, suicide prevention and awareness, and identification of risk factors and warning signs. CONCLUSION: Although behavioral health care professionals may often encounter patients at risk for suicide, many have not obtained any relevant training. The findings highlight the need to strengthen suicide identification, assessment and treatment within behavioral health care treatment settings as part of an effort to prevent suicide.

CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome.

Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient's quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In addition, an association between the CTLA-4 G/G genotype and obesity was detected in TS patients (p=0.02, OR=6.04). Regarding, the -550(H/L) polymorphism in the MBL2 promoter, the frequency of the H/L genotype was significantly higher in the TS group than healthy controls (p=0.01, OR=1.96). The H/H genotype indicated a protective effect in TS patients (p=0.01, OR=0.23). No differences were observed in the distribution of -221(X/Y), MBL2 exon 1 variants, and PTPN22 +1858G/A in any assessed groups. CTLA-4 variants are potentially involved in obesity in this cohort of TS patients from northeastern Brazil.

Incubation Temperature, But Not Pequi Oil Supplementation, Affects Methane Production, and the Ruminal Microbiota in a Rumen Simulation Technique (Rusitec) System.

Lipid supplementation is a promising strategy for methane mitigation in cattle and has been evaluated using several different lipid sources. However, limited studies have assessed the effect of temperature on methane emissions from cattle and changes in incubation temperature have also not been extensively evaluated. The aim of this study was to evaluate the combined effect of pequi oil (high in unsaturated fatty acids) and incubation temperature on fermentation characteristics and microbial communities using the rumen simulation technique. A completely randomized experiment was conducted over a 28-day period using a Rusitec system. The experiment was divided into four periods of 7 days each, the first of which was a 7-day adaptation period followed by three experimental periods. The two treatments consisted of a control diet (no pequi oil inclusion) and a diet supplemented with pequi oil (1.5 mL/day) which increased the dietary fat content to 6% (dry matter, DM-basis). Three fermenter vessels (i.e., replicates) were allocated to each treatment. In the first experimental period, the incubation temperature was maintained at 39°C, decreased to 35°C in the second experimental period and then increased again to 39°C in the third. Pequi oil was continuously supplemented during the experiment. Microbial communities were assessed using high-throughput sequencing of the archaeal and bacterial 16S rRNA gene. Methane production was reduced by 57% following a 4°C decrease in incubation temperature. Supplementation with pequi oil increased the dietary fat content to 6% (DM-basis) but did not affect methane production. Analysis of the microbiota revealed that decreasing incubation temperature to 35°C affected the archaeal and bacterial diversity and richness of liquid-associated microbes, but lipid supplementation did not change microbial diversity.

Dose-response effects of dietary pequi oil on fermentation characteristics and microbial population using a rumen simulation technique (Rusitec).

The effect of increasing the concentration of commercial pequi (Caryocar brasiliense) oil on fermentation characteristics and abundance of methanogens and fibrolityc bacteria was evaluated using the rumen simulation technique (Rusitec). In vitro incubation was performed over 15 days using a basal diet consisting of ryegrass, maize silage and concentrate in equal proportions. Treatments consisted of control diet (no pequi oil inclusion, 0 g/kg DM), pequi dose 1 (45 g/kg DM), and pequi dose 2 (91 g/kg DM). After a 7 day adaptation period, samples for fermentation parameters (total gas, methane, and VFA production) were taken on a daily basis. Quantitative real time PCR (q-PCR) was used to evaluate the abundance of the main rumen cellulolytic bacteria, as well as abundance of methanogens. Supplementation with pequi oil did not reduce overall methane production (P = 0.97), however a tendency (P = 0.06) to decrease proportion of methane in overall microbial gas was observed. Increasing addition of pequi oil was associated with a linear decrease (P < 0.01) in dry matter disappearance of maize silage. The abundance of total methanogens was unchanged by the addition of pequi oil, but numbers of those belonging to Methanomassiliicoccaceae decreased in liquid-associated microbes (LAM) samples (P < 0.01) and solid-associated microbes (SAM) samples (P = 0.09) respectively, while Methanobrevibacter spp. increased (P < 0.01) only in SAM samples. Fibrobacter succinogenes decreased (P < 0.01) in both LAM and SAM samples when substrates were supplemented with pequi oil. In conclusion, pequi oil was ineffective in mitigating methane emissions and had some adverse effects on digestibility and selected fibrolytic bacteria.

The Type of Forage Substrate Preparation Included as Substrate in a RUSITEC System Affects the Ruminal Microbiota and Fermentation Characteristics.

In vitro fermentation systems such as the rumen simulation technique (RUSITEC) are frequently used to assess dietary manipulations in livestock, thereby limiting the use of live animals. Despite being in use for nearly 40 years, improvements are continually sought in these systems to better reflect and mimic natural processes in ruminants. The aim of this study was to evaluate the effect of forage preparation, i.e., frozen minced (FM) and freeze-dried and ground (FDG), on the ruminal microbiota and on fermentation characteristics when included as a substrate in a RUSITEC system. A completely randomized design experiment was performed over a 15-day period, with 7 days of adaptation and an 8-day experimental period. Fermentation parameters (total gas, CH4, and volatile fatty acid production) were analyzed on a daily basis over the experimental period and the archaeal and bacterial microbiota (liquid-associated microbes [LAM] and solid-associated microbes [SAM] was assessed at 0, 5, 10, and 15 days using high-throughput sequencing of the 16S rRNA gene. Results from this study suggested a tendency (P = 0.09) of FM treatment to increase daily CH4 (mg/d) production by 16.7% when compared with FDG treatment. Of the major volatile fatty acids (acetate, propionate, and butyrate), only butyrate production was greater (P = 0.01) with FM treatment compared with FDG substrate. The archaeal and bacterial diversity and richness did not differ between the forage preparations, although feed particle size of the forage had a significant effect on microbial community structure in the SAM and LAM samples. The Bacteroidetes phylum was more relatively abundant in the FM substrate treatment, while Proteobacteria was enriched in the FDG treatment. At the genus-level, Butyrivibrio, Prevotella, and Roseburia were enriched in the FM substrate treatment and Campylobacter and Lactobacillus in the FDG substrate treatment. Evidence from this study suggests that forage preparation affects CH4 production, butyrate production, and the structure of the rumen microbiota during in vitro fermentation.

A dimensão ética na produção do conhecimento e na psicanálise / The ethical dimension in knowledge production and in psychoanalysis

Este artigo discute algumas questões relacionadas à ética em processos de criação no âmbito da pesquisa científica. Ele faz três proposições para problematizar o campo de produção de conhecimento, principalmente a questão da linguagem como um não-lugar, evidenciando uma operação negativa que dialoga tanto com a psicanálise como com a arte e a crítica. Foi escrito pensando nas possibilidades de abertura e nos enfrentamentos éticos que perpassam toda construção do pensamento, principalmente sobre a especificidade do saber inconsciente

This article discusses some issues related to ethics in creation processes in scientific research. It makes three propositions to question the field of knowledge production, especially the question of language as a non-place, showing a negative operation that dialogues with psychoanalysis as much as with art and criticism. It was written thinking about the possibilities of opening and ethical clashes that permeate every construction of thought, mainly about the specificity of the unconscious knowledge

Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome.

Folate metabolism dysfunction can lead to DNA hypomethylation and abnormal chromosomal segregation. Previous investigations of this association have produced controversial results. Here we performed a case-control study in patients with Turner syndrome (TS) to determine the effects of genetic polymorphisms of folate pathway genes as potential risk factors for somatic chromosomal nondisjunction. TS is a useful model for this investigation because patients with TS show a high frequency of chromosome mosaicism. Here we investigated the possible association of polymorphisms of the MTHFR gene with TS risk, which has been previously investigated with controversial results. We also examined the effects of MTR, RFC1, and TYMS gene polymorphisms in TS for the first time. The risk was evaluated according to allelic and genotype (independent and combined) frequencies among 70 patients with TS and 144 age-matched healthy control subjects. Polymorphism genotyping was performed by PCR, PCR-RFLP, and PCR-ASA. The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS. In conclusion, our present findings did not support a link between impaired folate metabolism and abnormal chromosome segregation leading to somatic nondisjunction in TS patients.

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case.

Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

[First isolation in Argentina of community-acquired methicillin-resistant Staphylococcus aureus with intermediate susceptibility to vancomycin and nonsusceptibility to daptomycin]. / Primer aislamiento en Argentina de Staphylococcus aureus resistente a la meticilina adquirido en la comunidad con sensibilidad intermedia a la vancomicina y no sensibilidad a la daptomicina.

UNLABELLED: We report the first case in Argentina of community-acquired methicillin-resistant Staphylococcus aureus with intermediate susceptibility to vancomycin and nonsusceptibility to daptomycin. CASE REPORT: A male patient with a history of chronic renal failure on hemodialysis and hip fracture osteosynthesis was admitted to hospital for persistent febrile syndrome following the displacement of the prosthesis by trauma. Blood cultures grew community-acquired methicillin-resistant Staphylococcus aureus. During treatment with vancomycin and daptomycin, a gradual increase in vancomycin MIC of 1 µg/ml (VSSA) to 2 µg/ml (h-VISA) and 4 µg/ml (VISA) was observed, as well as the emergence of non-susceptibility to daptomycin (MIC = 4 µg/ml). By suspending vancomycin and daptomycin, the strain reversed to the susceptible phenotype to both drugs. It is mandatory to evaluate by MIC the susceptibility to vancomycin and daptomycin during treatment when these drugs are used as therapy.

Primer aislamiento en Argentina de Staphylococcus aureus resistente a la meticilina adquirido en la comunidad con sensibilidad intermedia a la vancomicina y no sensibilidad a la daptomicina / [First isolation in Argentina of community-acquired methicillin-resistant Staphylococcus aureus with intermediate susceptibility to vancomycin and nonsusceptibility to daptomycin].

UNLABELLED: We report the first case in Argentina of community-acquired methicillin-resistant Staphylococcus aureus with intermediate susceptibility to vancomycin and nonsusceptibility to daptomycin. CASE REPORT: A male patient with a history of chronic renal failure on hemodialysis and hip fracture osteosynthesis was admitted to hospital for persistent febrile syndrome following the displacement of the prosthesis by trauma. Blood cultures grew community-acquired methicillin-resistant Staphylococcus aureus. During treatment with vancomycin and daptomycin, a gradual increase in vancomycin MIC of 1 Ag/ml (VSSA) to 2 Ag/ml (h-VISA) and 4 Ag/ml (VISA) was observed, as well as the emergence of non-susceptibility to daptomycin (MIC = 4 Ag/ml). By suspending vancomycin and daptomycin, the strain reversed to the susceptible phenotype to both drugs. It is mandatory to evaluate by MIC the susceptibility to vancomycin and daptomycin during treatment when these drugs are used as therapy.

[Prevalence of methicillin resistant Staphylococcus aureus in skin and soft tissue infections, in ambulatory patients]. / Prevalencia de Staphylococcus aureus resistente a meticilina en infecciones de piel y partes blandas en pacientes ambulatorios.

UNLABELLED: An increased prevalence of community-acquired methicillin resistant Staphylococcus aureus (MRSA) in skin and soft tissue infections (SSTI) has been recently reported. Epidemiological data in Argentina is limited. Our objectives were to evaluate etiological agents, clinical presentation, risk factors and evolution of SSTI in ambulatory patients, in a descriptive and prospective study that was performed at the Infectious Diseases Department, Hospital Fernández, City of Buenos Aires, Argentina, from 10/01/2009 to 01/31/2011. A total of 130 samples were analyzed from 130 patients. Median age: 36 years old (IQR 25.9-43.5); 61.5% were men. HIV infection: 46.9%. Positive cultures were obtained from 100 samples (76.9%): S. aureus 83, Streptococcus spp. 8, and other microorganisms 9. Sixty two (74.7%) of S. aureus isolates were oxacilin resistant, 12 (14.4%) clindamycin resistant, 14 (16.7%) erythromycin resistant and 5 (6%) ciprofloxacin resistant. Some samples presented more than one resistance. All were susceptible to rifampicin and minocycline and 98.8% (82) to trimethoprim-sulfamethoxazole. Of the MRSA patients, 83.8% (52) had at least one risk factor. No significant differences were found in relation to patients with bacterial infections different from MRSA. The most frequent clinical presentation of MRSA-SSTI was furuncle; 56.5% (35/62) vs. 28.9% (11/38) in other SSTI isolations (p = 0.013). Oxacilin resistance was similar among HIV positive and negative patients (79.1 vs. 70%, p = 0.179) (34/43 vs. 28/40). IN CONCLUSION: a high prevalence of MRSA was found in this population, irrespective of HIV serology or the presence of risk factors. Empirical treatment options for this microorganism are minocycline and trimethoprim-sulfamethoxazole.

Prevalencia de Staphylococcus aureus resistente a meticilina en infecciones de piel y partes blandas en pacientes ambulatorios / Prevalence of methicillin resistant Staphylococcus aureus in skin and soft tissue infections, in ambulatory patients

Recientemente se ha observado un aumento en la prevalencia de Staphylococcus aureus resistente a la meticilina (SAMR) en pacientes ambulatorios con infecciones de piel y partes blandas (IPyPB). Los datos epidemiológicos locales disponibles son limitados. Se realizó un estudio descriptivo, prospectivo, de consultantes con IPyPB en la División Infectología del Hospital General de Agudos Juan A. Fernández, en el período 01/10/2009 a 31/01/2011. Fueron 130; edad mediana 36 años (RIC 25.9-43.5); hombres 61.5%. El 46.9% era HIV+. Cien cultivos (76.9%), de 100 pacientes, resultaron positivos: 83 S. aureus, 8 Streptococcus spp. y 9 con otros microorganismos. De los S. aureus aislados, 62 (74.7%) fueron resistentes a oxacilina, 12 (14.4%) a clindamicina, 14 (16.9%) a eritromicina, 5 (6%) a ciprofloxacina, presentando en algunos casos más de una resistencia. Todos fueron sensibles a rifampicina y minociclina, y 98.8% (82) a trimetoprima-sulfametoxazol. El 83.8% (52) de los pacientes con SAMR tenían algún factor de riesgo (FR), sin diferencias con los pacientes con otros aislamientos. La presentación clínica más frecuente de IPyPB / SAMR fue forunculosis: 56.4 (35/62) vs. 28.9% (11/38) en infecciones por otros microorganismos (p = 0.013). La resistencia a oxacilina fue similar entre pacientes HIV+ y negativos (79.1 vs. 70%, p = 0.179) (34/43 vs. 28/40). Concluimos que en la población estudiada se encontró una alta prevalencia de SAMR, independientemente de la serología para HIV o la presencia de FR. Las opciones de tratamiento empírico para este microorganismo son minociclina y trimetoprima-sulfametoxazol.

An increased prevalence of community-acquired methicillin resistant Staphylococcus aureus (MRSA) in skin and soft tissue infections (SSTI) has been recently reported. Epidemiological data in Argentina is limited. Our objectives were to evaluate etiological agents, clinical presentation, risk factors and evolution of SSTI in ambulatory patients, in a descriptive and prospective study that was performed at the Infectious Diseases Department, Hospital Fernández, City of Buenos Aires, Argentina, from 10/01/2009 to 01/31/2011. A total of 130 samples were analyzed from 130 patients. Median age: 36 years old (IQR 25.9-43.5); 61.5% were men. HIV infection: 46.9%. Positive cultures were obtained from 100 samples (76.9%): S. aureus 83, Streptococcus spp. 8, and other microorganisms 9. Sixty two (74.7%) of S. aureus isolates were oxacilin resistant, 12 (14.4%) clindamycin resistant, 14 (16.7%) erythromycin resistant and 5 (6%) ciprofloxacin resistant. Some samples presented more than one resistance. All were susceptible to rifampicin and minocycline and 98.8% (82) to trimethoprim- sulfamethoxazole. Of the MRSA patients, 83.8% (52) had at least one risk factor. No significant differences were found in relation to patients with bacterial infections different from MRSA. The most frequent clinical presentation of MRSA-SSTI was furuncle; 56.5% (35/62) vs. 28.9% (11/38) in other SSTI isolations (p = 0.013). Oxacilin resistance was similar among HIV positive and negative patients (79.1 vs. 70%, p = 0.179) (34/43 vs. 28/40). In conclusion: a high prevalence of MRSA was found in this population, irrespective of HIV serology or the presence of risk factors. Empirical treatment options for this microorganism are minocycline and trimethoprim-sulfamethoxazole.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ~139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS.

A tuberculose pulmonar em ambiente hospitalar: uma revisão sobre o papel do enfermeiro / La tuberculosis pulmonar en ambiente hospitalar: una revisión sobre el papel del enfermero / The pulmonary tuberculosis in hospital environment: a review on the role of nurses

Identificar o papel do enfermeiro no tratamento da tuberculose, no ambiente hospitalar. Método: Trata-se de um estudo bibliográfico, descritivo, com abordagem qualitativa. Para tanto, a coleta dos dados se deu através da Biblioteca Virtual de Saúde, nas bases de dados Lilacs, Bdenf e Scielo, o que possibilitou a escolha de 06 artigos, que foram discutidos aqui. Resultados: Após a coleta de dados, realizaram-se a pré-leitura, a leitura seletiva e análise temática, que destacaram as seguintes categorias: a importância da busca ativa, a tuberculose no ambiente hospitalar e o controle efetivo de ambientes. Conclusão: O enfermeiro, enquanto educador, deve reconhecer que tem em mãos um instrumento de extrema importância para a melhoria da saúde pública no Brasil e para a extinção da discriminação na vida profissional ou pessoal do doente.

Identificar el papel de las enfermeras en el tratamiento de la tuberculosis en el hospital. Método: Se trata de una bibliografía, el enfoque cualitativo, descriptivo. Con este fin, la recopilación de datos se realizó a través de la Biblioteca Virtual en Salud, las lilas bases de datos, y Bdenf Scielo, lo que permitió la selección de 06 trabajos, que se discuten aquí. Resultados: Después de la recogida de datos se llevó a cabo la pre-lectura, lectura selectiva y el análisis temático, que destacó las siguientes categorías: la importancia de buscar la tuberculosis activa en el ambiente hospitalario y el control efectivo de los ambientes. Conclusión: El enfermero como educador debe reconocer que él tiene en la mano un instrumento de vital importancia para mejorar la salud pública en Brasil y la extinción de la discriminación en la vida profesional o personal enfermo.

Objective: To identify the role of nurses in tuberculosis treatment in hospital. Method: This is a bibliographic, descriptive, qualitative approach. For this purpose, data collection was made through the Virtual Health Library, the databases Lilacs, and Scielo Bdenf, which allowed the selection of 06 papers, which were discussed here. Results: After the data collection took place pre-reading, selective reading and thematic analysis, which highlighted the following categories: the importance of seeking active tuberculosis in the hospital environment and effective control of environments. Conclusion: The nurse as educator must recognize that he has in hand an instrument of vital importance to improving public health in Brazil and the extinction of discrimination in professional life or personal ill’s.