Design of a highly selective quenched activity-based probe and its application in dual color imaging studies of cathepsin S activity localization.

The cysteine cathepsins are a group of 11 proteases whose function was originally believed to be the degradation of endocytosed material with a high degree of redundancy. However, it has become clear that these enzymes are also important regulators of both health and disease. Thus, selective tools that can discriminate between members of this highly related class of enzymes will be critical to further delineate the unique biological functions of individual cathepsins. Here we present the design and synthesis of a near-infrared quenched activity-based probe (qABP) that selectively targets cathepsin S which is highly expressed in immune cells. Importantly, this high degree of selectivity is retained both in vitro and in vivo. In combination with a new green-fluorescent pan-reactive cysteine cathepsin qABP we performed dual color labeling studies in bone marrow-derived immune cells and identified vesicles containing exclusively cathepsin S activity. This observation demonstrates the value of our complementary cathepsin probes and provides evidence for the existence of specific localization of cathepsin S activity in dendritic cells.

From nose to brain: The effect of lemon inhalation observed by whole brain voxel to voxel functional connectivity.

Lemon fragrance is known for its stimulating properties, but its mechanisms of action are not well known yet. This study aimed to examine the effect of lemon essential oil inhalation on healthy participants' alertness level and their neural correlates using magnetic resonance imaging (MRI). Twenty-one healthy men underwent functional MRI scans in different conditions: a resting state condition, a condition where they were exposed to passive lemon smelling (alternating exposure to lemon and breathing fresh air), and a control condition without lemon fragrance diffusion -the order of the last two conditions being randomized. Alertness levels were assessed immediately after each condition using the Karolinska Sleepiness Scale. Voxel-wise whole-brain global functional connectivity and graph theory analyses were computed to investigate brain functional connectivity and network topology alterations. After lemon fragrance inhalation, we observed a higher level of alertness as compared to resting state -but not compared to control condition. During lemon fragrance inhalation, we found increased global functional connectivity in the thalamus, paralleled by decreased global connectivity in several cortical regions such as precuneus, postcentral and precentral gyrus, lateral occipital cortex and paracingulate gyrus. Graph theory analysis revealed increased network integration in cortical regions typically involved in olfaction and emotion processing such as olfactory bulb, hypothalamus and thalamus, while decreased network segregation in several regions of the posterior part of the brain during olfaction as compared to resting state. The present findings suggest that lemon essential oil inhalation could increase the level of alertness.

Viability of an Early Sleep Intervention to Mitigate Poor Sleep and Improve Well-being in the COVID-19 Pandemic: Protocol for a Feasibility Randomized Controlled Trial.

BACKGROUND: The COVID-19 pandemic has led to drastic increases in the prevalence and severity of insomnia symptoms. These increases in insomnia complaints have been paralleled by significant decreases in well-being, including increased symptoms of depression, anxiety, and suicidality and decreased quality of life. However, the efficacy and impact of early treatment of insomnia symptoms on future sleep and well-being remain unknown. OBJECTIVE: Here, we present the framework and protocol for a novel feasibility, pilot study that aims to investigate whether a brief telehealth insomnia intervention targeting new insomnia that developed during the pandemic prevents deterioration of well-being, including symptoms of insomnia, depression, anxiety, suicidality, and quality of life. METHODS: The protocol details a 2-arm randomized controlled feasibility trial to investigate the efficacy of a brief, telehealth-delivered, early treatment of insomnia and evaluate its potential to prevent deterioration of well-being. Participants with clinically significant insomnia symptoms that began during the pandemic were randomized to either a treatment group or a 28-week waitlist control group. Treatment consists of 4 telehealth sessions of cognitive behavioral therapy for insomnia (CBT-I) delivered over 5 weeks. All participants will complete assessments of insomnia symptom severity, well-being, and daily habits checklist at baseline (week 0) and at weeks 1-6, 12, 28, and 56. RESULTS: The trial began enrollment on June 3, 2020 and closed enrollment on June 17, 2021. As of October 2021, 49 participants had been randomized to either immediate treatment or a 28-week waitlist; 23 participants were still active in the protocol. CONCLUSIONS: To our knowledge, this protocol would represent the first study to test an early sleep intervention for improving insomnia that emerged during the COVID-19 pandemic. The findings of this feasibility study could provide information about the utility of CBT-I for symptoms that emerge in the context of other stressors before they develop a chronic course and deepen understanding of the relationship between sleep and well-being. TRIAL REGISTRATION: ClinicalTrials.gov NCT04409743; https://clinicaltrials.gov/ct2/show/NCT04409743. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/34409.

Regulation of metabolic and transcriptional responses by the thyroid hormone in cellular models of murine macrophages.

Oncogene-immortalized bone marrow-derived macrophages are considered to be a good model for the study of immune cell functions, but the factors required for their survival and proliferation are still unknown. Although the effect of the thyroid hormones on global metabolic and transcriptional responses in macrophages has not yet been examined, there is increasing evidence that they could modulate macrophage functions. We show here that the thyroid hormone T3 is an absolute requirement for the growth of immortal macrophages. The hormone regulates the activity of the main signaling pathways required for proliferation and anabolic processes, including the phosphorylation of ERK and p38 MAPKs, AKT, ribosomal S6 protein, AMPK and Sirtuin-1. T3 also alters the levels of metabolites controlling transcriptional and post-transcriptional actions in macrophages, and causes widespread transcriptomic changes, up-regulating genes needed for protein synthesis and cell proliferation, while down-regulating genes involved in immune responses and endocytosis, among others. This is not observed in primary bone marrow-derived macrophages, where only p38 and AMPK activation is regulated by T3 and in which the metabolic and transcriptomic effects of the hormone are much weaker. However, the response to IFN-γ is reduced by T3 similarly in immortalized macrophages and in the primary cells, confirming previous results showing that the thyroid hormones can antagonize JAK/STAT-mediated signaling. These results provide new perspectives on the relevant pathways involved in proliferation and survival of macrophage cell culture models and on the crosstalk between the thyroid hormones and the immune system.

Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient.

BAF57 is a core subunit present in all mammalian SWI/SNF ATP-dependent chromatin remodeling complexes, which regulates important biological processes including gene transcription, DNA recombination, DNA repair, and DNA replication. Among other functions, BAF57 mediates the recruitment of SWI/SNF to sequence-specific transcription factors. Thus, BAF57 plays a crucial role in regulating estrogen-dependent gene expression and proliferation in human cell lines derived from breast tumors. Increasing genetic and biochemical evidences suggest that mutations in BAF57 or alterations in its expression could play an oncogenic role in the mammary gland. Here, we describe two novel mutations in the BAF57 gene found in a breast cancer patient. Both mutations originate premature stop codons, leading to truncated proteins, structurally similar to another BAF57 mutant previously found in a human cell line derived from a breast tumor (BT-549). The expression of these novel BAF57 mutants has abnormally high estrogen receptor alpha (ERα) coactivating potential, suggesting that they might be involved in the aberrant estrogen-dependent proliferation that occur in the majority of breast tumors that retain ERα expression. In addition, the mutations in BAF57 affect its functional interaction with the androgen receptor and ETS2, two transcription factors that play an important role in breast cell biology. Therefore, mutations in BAF57 could impinge on several oncogenic signaling pathways contributing to the origin and/or development of breast cancer.

The efficacy of nonpharmacological treatment for dementia-related apathy.

OBJECTIVE: To determine the usefulness of a formal, structured, nonpharmacological treatment for apathetic dementia patients. PATIENTS AND METHODS: A controlled, cross-over, randomized, simple-blind, multicentre clinical trial. A total of 146 institutionalized or day care dementia patients with a stage 1 or 2 Clinical Dementia Rating, with no significant motor or sensory problems, or with rapidly evolving dementia and in a clinically stable state were recruited. A cognitive mini examination, and functional, depression, and potential toxicity scales, Neuropsychiatric Inventory Questionnaire (NPI-Q), and Dementia Apathy Interview and Rating (DAIR) scales were applied at baseline. Patients were randomized to initial intervention (music and art therapy and psychomotor activity) or initial control (free activities in the day room) and changed over at 4 weeks. NPI-Q and DAIR scales were administered at the end of weeks 4 and 8. RESULTS: A significant difference between intervention and control periods, as measured using the DAIR scale, was observed, with a difference of 0.21 (95% confidence interval: 0.07-0.34, P<0.005). The difference was very important in the patients with moderated apathy. However, differences were not so important in the patients with severe apathy and there were no differences at all in the non-apathetic patients. No significant differences were found with the NPI-Q scale, although there was a clear improvement trend in the "apathy" question on this scale. This effect seems to extend beyond the therapeutic intervention period. CONCLUSIONS: A structured, nonpharmacological, short-term occupational therapy intervention is more useful than activities of the patients' own choice for improving apathy in patients with mild or moderate dementia.

Mucocutaneous Manifestations of Inflammatory Bowel Disease.

Inflammatory bowel disease (IBD) is a chronic and incurable disease, of unknown etiology, associated with an unregulated immune response to environmental triggers in a genetically predisposed host. IBD affects mainly the gastrointestinal (GI) tract and includes Crohn's disease (CD) and ulcerative colitis (UC). However, a large percentage of patients may present with extraintestinal manifestations, including mucocutaneous ones (which are the most common) and dermatologic findings, such as erythema nodosum, pyoderma gangrenosum, and aphthous stomatitis (which are the most frequently occurring). According to pathophysiologic mechanisms, mucocutaneous manifestations of IBD are classified into five categories, namely, specific manifestations, associated manifestations, reactive manifestations, adverse effects of IBD therapy, and malabsorption manifestations. Recognizing such manifestations should not be performed only by a dermatologist but also other specialties such as internal medicine, gastroenterology, among others. This is because these manifestations can present before the IBD diagnosis, even in the absence of GI symptoms. Therefore, these skin lesions could be a fundamental tool for the earlier diagnosis of IBD. This review provides a comprehensive overview of the most common cutaneous manifestations of IBD with a focus on their epidemiology, diagnostic criteria, clinical presentation, and available medical treatment.

Thyroid Hormone Receptor ß Inhibits Self-Renewal Capacity of Breast Cancer Stem Cells.

Background: A subpopulation of cancer stem cells (CSCs) with capacity for self-renewal is believed to drive initiation, progression, and relapse of breast tumors. Methods: Since the thyroid hormone receptor ß (TRß) appears to suppress breast tumor growth and metastasis, we have analyzed the possibility that TRß could affect the CSC population using MCF-7 cells grown under adherent conditions or as mammospheres, as well as inoculation into immunodeficient mice. Results: Treatment of TRß-expressing MCF-7 cells (MCF7-TRß cells) with the thyroid hormone triiodothyronine (T3) decreased significantly CD44+/CD24- and ALDH+ cell subpopulations, the efficiency of mammosphere formation, the self-renewal capacity of CSCs in limiting dilution assays, the expression of the pluripotency factors in the mammospheres, and tumor initiating capacity in immunodeficient mice, indicating that the hormone reduces the CSC population present within the bulk MCF7-TRß cultures. T3 also decreased migration and invasion, a hallmark of CSCs. Transcriptome analysis showed downregulation of the estrogen receptor alpha (ERα) and ER-responsive genes by T3. Furthermore, among the T3-repressed genes, there was an enrichment in genes containing binding sites for transcription factors that are key determinants of luminal-type breast cancers and are required for ER binding to chromatin. Conclusion: We demonstrate a novel role of TRß in the biology of CSCs that may be related to its action as a tumor suppressor in breast cancer.

HEY1 functions are regulated by its phosphorylation at Ser-68.

HEY1 (hairy/enhancer-of-split related with YRPW motif 1) is a member of the basic helix-loop-helix-orange (bHLH-O) family of transcription repressors that mediate Notch signalling. HEY1 acts as a positive regulator of the tumour suppressor p53 via still unknown mechanisms. A MALDI-TOF/TOF MS analysis has uncovered a novel HEY1 regulatory phosphorylation event at Ser-68. Strikingly, this single phosphorylation event controls HEY1 stability and function: simulation of HEY1 Ser-68 phosphorylation increases HEY1 protein stability but inhibits its ability to enhance p53 transcriptional activity. Unlike wild-type HEY1, expression of the phosphomimetic mutant HEY1-S68D failed to induce p53-dependent cell cycle arrest and it did not sensitize U2OS cells to p53-activating chemotherapeutic drugs. We have identified two related kinases, STK38 (serine/threonine kinase 38) and STK38L (serine/threonine kinase 38 like), which interact with and phosphorylate HEY1 at Ser-68. HEY1 is phosphorylated at Ser-68 during mitosis and it accumulates in the centrosomes of mitotic cells, suggesting a possible integration of HEY1-dependent signalling in centrosome function. Moreover, HEY1 interacts with a subset of p53-activating ribosomal proteins. Ribosomal stress causes HEY1 relocalization from the nucleoplasm to perinucleolar structures termed nucleolar caps. HEY1 interacts physically with at least one of the ribosomal proteins, RPL11, and both proteins cooperate in the inhibition of MDM2-mediated p53 degradation resulting in a synergistic positive effect on p53 transcriptional activity. HEY1 itself also interacts directly with MDM2 and it is subjected to MDM2-mediated degradation. Simulation of HEY1 Ser-68 phosphorylation prevents its interaction with p53, RPL11 and MDM2 and abolishes HEY1 migration to nucleolar caps upon ribosomal stress. Our findings uncover a novel mechanism for cross-talk between Notch signalling and nucleolar stress.

Effects of an Oral Nutritional Supplementation Plus Physical Exercise Intervention on the Physical Function, Nutritional Status, and Quality of Life in Frail Institutionalized Older Adults: The ACTIVNES Study.

OBJECTIVES: The objective of this study was to assess the effects of a hyperproteic, hypercaloric oral nutritional supplement with prebiotic fiber, vitamin D, and calcium, plus a standardized physical intervention, in the functional status, strength, nutritional status, and quality of life of frail institutionalized older adults. DESIGN: Multicentric prospective observational study under usual clinical practice conditions. SETTING: Four nursing homes from Burgos (2), Albacete, and Madrid, Spain. PARTICIPANTS: Participants included 91 institutionalized older adults (age ≥70), able to walk 50 m, and meeting at least 3 of the Fried frailty phenotype criteria. INTERVENTION: Daily intake of two 200-mL bottles of an oral nutritional supplement, each bottle containing 300 kcal, 20 g protein, 3 g fiber, 500 IU vitamin D, and 480 mg calcium, plus a standardized physical exercise training consisting of flexibility, balance, and strengthening exercises for arms and legs, 5 days per week. MEASUREMENTS: Short Physical Performance Battery (SPPB), Short-Form-Late-Life Function and Disability Instrument (SF-LLFDI) function subscale, handgrip strength, EuroQoL-5 Dimensions visual analogic scale (EQ5DVAS), weight, body mass index (BMI), and Short-Form Mini Nutritional Assessment (MNA-SF) at baseline and 6 and 12 weeks. RESULTS: Forty-eight participants (52.7%) improved at least 1 point in the SPPB at week 6, and 44 (48.4%) did so at week 12; 39 participants (42.9%) improved at least 2 points in the SF-LLFDI at week 6, and 46 (50.5%) at week 12. Participants improved their quality of life measured with the EQ5DVAS by 6% (95% confidence interval [CI] 3%-10%) at week 6, and by 5% (95% CI 0%-10%) at week 12. They also improved their nutritional status (weight gain, BMI increase, and higher MNA-SF scores at 6- and 12-week follow-up). This improvement was higher in participants with more frailty criteria, lower functional level, lower vitamin D levels, and poorer nutritional status. CONCLUSION: A 12-week intervention with oral nutritional supplementation plus physical exercise improves function, nutritional status, and quality of life in frail institutionalized older adults.

[Obesity and overweight. An assessment of the effectiveness of a public health intervention]. / Obesidad y sobrepeso. Aproximación a la efectividad de una intervención sanitaria.

INTRODUCTION: The prevalence of excess weight (obesity and overweight) is increasing in developed countries, with preventive measures not shown to be sufficiently effective. The aim of this study was to investigate the effectiveness of the sustained prevention and treatment by Primary Care Paediatrics of overweight from early childhood. MATERIAL AND METHODS: The BMI of 1669 patients from two Paediatric Teams, were compared using four different age intervals between 4 and 14 years during 2007-2009. One of the teams had spent 15 years carrying out a systematic strategy aimed at the prevention and monitoring of overweight. RESULTS: The BMI means in this study were higher than those shown in the 1988 Orbegozo tables, particularly in older ages and in males. The prevalence of overweight was lower in the population with the systematic intervention team, and this was significant at the end of the paediatric age, 14 years (P=.043). CONCLUSIONS: The overweight problem is so great that the measures aimed at their prevention are clearly beyond the scope of health professionals. However, interventions by health professionals can be effective in maintaining a healthy weight, if they are carried out on an ongoing basis.

The transcription factor CREBZF is a novel positive regulator of p53.

CREBZF is a member of the mammalian ATF/CREB family of transcription factors. Here, we describe a novel functional interaction between CREBZF and the tumor suppressor p53. CREBZF was identified in a yeast two-hybrid screen using HEY1, recently characterized as an indirect p53 activator, as bait. CREBZF interacts in vitro with both HEY1 and p53, and CREBZF expression stabilizes and activates p53. Moreover, CREBZF cooperates synergistically with HEY1 to enhance p53 transcriptional activity. On the other hand, partial depletion of endogenous CREBZF diminishes p53 protein levels and inhibits HEY1-mediated activation of p53. CREBZF-positive effects on p53 signaling may reflect, at least in part, an observed induction of posttranslational modifications in p53 known to prevent its degradation. CREBZF expression protects HCT116 cells from UV radiation-induced cell death. In addition, CREBZF expression confers sensitivity to 5-fluorouracil, a p53-activating chemotherapeutic drug. Our study suggests that CREBZF may participate in the modulation of p53 tumor suppressor function.

Validación de la Encuesta de Percepción de Enfermedad Revisada (Illness Perception Questionnaire) entre pacientes con patologías crónicas médicas y psiquiátricas / Validation of Illness Perception Survey Revised (Illness Perception Questionnaire) among patients with medical and psychiatric chronic diseases

MARCO TEÓRICO: La Percepción de Enfermedad es una variable importante en la evolución de los pacientes. Existen métodos de evaluación cualitativa de éste parámetro, sin embargo, no son aplicables a la población chilena por no estar adaptados al lenguaje local y cotidiano. OBJETIVO: Realizar una traducción del Illness Perception Questionnaire Revised, conservando la validez y fiabilidad original. MATERIALES Y MÉTODOS: Traducción y retraducción de la escala por experto. Piloteo de evaluación a 33 pacientes con enfermedades crónicas. Encuesta a 112 pacientes (49 diabéticos, 37 hipertensos y 33 esquizofrénicos) todos pertenecientes al CRS Hospital El Pino. CONCLUSIONES: En base al porcentaje de concordancia obtenido (95%) entre la versión original y la traducida a la lengua española y al reporte de los entrevistadores con respecto a la comprensibilidad manifestada por los pacientes, podemos concluir que la traducción por nosotros aplicada cumple con los criterios de validez.

THEORETICAL FRAMEWORK: The perception of disease is an important variable in the patient evolution. There are methods of qualitative evaluation of this parameter, however, are not applicable to the Chilean people for not being adapted to the local and everyday language. OBJECTIVE: A translation of the Revised Illness Perception Questionnaire, preserving the original set reliability and validity. MATERIALS AND METHODS: Translation and back translation of the scale by an expert. Piloting assessment to 33 patients with chronic diseases. Survey of 112 patients (49 diabetic and 33 hypertensive schizophrenics 37) all belonging to the CRS Hospital Pino. CONCLUSIONS: Based on the percentage of concordance obtained (95%) between the original version and the translated version in the Spanish language and the interviewers' report regarding the comprehensibility expressed by the patients, we can conclude that the translation applied by us meets the criteria of validity

Striatal dopamine function in a family with multiple SCA-3 phenotypes.

We present single photon emission computed tomography (SPECT) studies using 123IFP-CIT (DAT scan) and 123I-IBZM imaging, performed on four members of a family with genetically proven spinocerebellar ataxia type 3 (SCA-3). DAT scan showed significant asymmetric decreased binding in the striatum in the two members with predominant parkinsonian phenotype, with mild and symmetric decreased binding in the member with the cerebellar phenotype, and normal in the asymptomatic member. The IBZM SPECT studies showed mild and asymmetrical reduction of the striatal dopamine D2 receptor density (parkinsonian members). SCA-3 can present with a levodopa responsive parkinsonism phenotype, and an abnormal DAT scan showing predominant impairment of presynaptic dopamine function.

Source identification of heavy metals in pastureland by multivariate analysis in NW Spain.

Arable layer of pastureland in Galicia (NW Spain) was monitored for total content of heavy metals, and analysed by multivariate statistical techniques, in order to investigate the different origin that metals may have in pasture soils. Principal component analysis (PCA), cluster analysis (CA) and correlation matrix (CM) were applied to 65 samples in which the total concentrations of Mn, Fe, Zn, Cu, Cr, Co, Ni, Cd and Pb were measured. Four significant components were extracted by PCA, explaining 78.830% of total variance. Mn, Co and Ni (and partially Cu), and Fe and Cr, were associated in two lithogenic components, respectively, while an anthropogenic origin was identified for Cd, Pb and Zn. Zn (and Cu) were mainly associated with soil fertilisation by cattle slurry or with other activities regarding cattle management. Although the origin of Cd and Pb was also attributed to slurry application, other sources like commercial fertilisers, vehicle exhaust or aerial deposition were not discarded as possible contributors. CA confirmed and completed the results obtained by PCA, classifying the data in four groups representing different areas. Group 1 represented samples corresponding to areas were the application of manure was moderate, while Group 2 included samples of lithogenic origin. Highest contents of anthropogenic metals were included in Group 3, although soils in this cluster were not considered as polluted. The last cluster grouped the samples with the lowest content of all the metals analysed, representing areas correctly managed and not affected by other external sources. Finally, the results obtained by CM agreed with PCA and CA, also helping in elucidating individual relationships between metals.

Evolución clínica de las miocardiopatias en el departamento de cardiología del Hospital Dr. Robert Reid Cabral, durante el período 1981-1991 / Clinical evolution of cardiomyopathies in the Cardiology Department of Dr. Robert Reid Cabral Hospital during the period 1981-1991

Se hizo un estudio retrospectivo en el cual se determinó la evolución clínica de los pacientes que asistieron al departamento de cardiología del Hospital Dr. Robert Reid Cabral (HRRC) entre 1981 y 1991 y a los cuales se les diagnosticó una miocardiopatía. Se revisaron 14,087 records encontrandose 220 casos de miocardiopatías para una frecuencia de 1.6//entre los niños con problemas cardíacos. Por debajo de los 4 años estuvo el 69//de los pacientes. La dispnea fue el síntoma de presentación con frecuente, estando presente en 77.3//de los casos. Un 39.1//de los casos presentó soplos, siendo la localización más frecuente el apex (77.9//) y sistólico (91.9//). El 2do. ruido pulmonar estuvo acentuado en 81.8//de los pacientes. Hubo cardiomegalia a la radiografía de tórax en 69.1//de los 207 pacientes a quienes se les realizó. al ecocardiograma el hallazgo más frecuente fue un septum hipodinámico en 69.4//y cavidad ventricular izqda. aumentada en 64.8//de los pacientes a los que se les realizó esta prueba diagnóstica. La enfermedad miocárdica fue clasificada de la siguiente manera: Miocardiopatía dilatada, miocardiopatía hipertrófica, miocardiopatía restrictiva y miocarditis. Un total de 101 pacientes (45.9//) tuvo miocardiopatía dilatada y 84 (38.2//) fue diagnosticado como miocarditis. Un 51.8//de los casos se consideró como la causa idiopática. Los pacientes fueron tratados con Digoxina y Furosemida. En pacientes menores de 10 años, los signos y síntomas de fallo cardíaco desaparecieron en 48.5//de los casos, mientras que solo lo hicieron en el 20//de los pacientes por encima de esa edad. El diagnostico de miocarditis fue el de mejor pronóstico

Cardiopatias asociadas al sindrome de Down / Cardiopathies associated with Down's syndrome

En el servicio de Genética Médica del Hospital Robert Reid Cabral fueron evaluados 108 casos con Sindrome de Down, de los cuales 55 (51 por ciento ) tenían hallazgos compatibles con defectos cardíacos, siendo referidos al servicio de Cardiología donde examinaron 51 casos, en los que se confirmó la presencia de cardiopatia mediante evaluación clínica, radiográfica, electrocardiográfica y/o ecocardiográfica. En estos 51 casos el signo clínico más frecuentemente encontrado fue el soplo en 37 casos (72.5 por ciento ) en 25 (49.0 por ciento ). El soplo estuvo más asociado al CIV en 29 casos (52.9 por ciento ) seguido del CAV en 11 (21.6 por ciento ); CIV tipo CAV en 8 casos (15.7 por ciento ), Conducto Arterioso Patente en 2 casos (3.9 por ciento ) y un caso de Tetralogía de Fallot para un 2

Variabilidad en la expresión en el síndrome de Nonne- Milroy-Meige: reporte de un caso / Variability in the appearance of Nonne-Milroy-Meige syndrome: report of a case

Se reporta el caso de un lactante afectado de linfodema congénita hereditario, bilateral en el que no se visualizó en la linfangiografía los linfáticos ilioinguinales bilateralmente. Se analiza el árbol genealógico, observandose que otros individuos tambíen están afectados de igual condición pero con tiempo de aparición e intensidad variable por lo que se sugiere que la variabilidad en la expresión del síndrome es lo que podría determinar la diferencia entre el linfodema de Nonne Milroy y el linfodeme de Meige. Consideramos como responsable de ambas condiciones a un gen único basándonos en la clara transmisión dominante en esta familia

Anormalidad cardiovascular en niños con el síndrome de inmunodeficiencia adquirida: estudio de 12 casos del Hogar Mary Loly en el Hospital Infantil Dr. Robert Reid Cabral / Cardiovascular anomaly in children with the Acquired Inmunodeficiency Syndrome: Study of 12 cases of Mary Loly home at Dr. Robert Reid Cabral Children's Hospital

Antecedentes: Se han reportado casos de afectación cardíaca en el Sindrome de Inmunodeficiencia Adquirida (SIDA), aunque en nuestro pais, que sepamos, no se había realizado un estudio en un grupo de niños afectados de esta enfermedad buscando esta patología. Materiales y métodos: Estudiamos un grupo de doce niños entre tres meses y doce años de edad, con el diagnóstico de SIDA, procedentes del Hogar Mary Loly en los Tres Brazos, Distrito Nacional, lugar destinado especialmente para niños de esta enfermedad. Le practicamos en el Departamento de Cardiología del Hospital Infantil Dr. Robert Read Cabral en Santo Domingo, República Dominicana, un electrocardiograma, radiografía de tórax y un ecocardiograma bidimensional. Resultados: Solo dos de los niños (16.7//) presentaban disnea y cianosis, debido a una pneumopatía crónica. Taquicardia sinusal superior a 120 latidos por minuto se presentó en 75// de los casos (9); en 58// de los casos (7) encontramos anormalidades en el electrocardiograma; en 10 casos (83.3//) encontramos anomalías en la radiografía de tórax, en 5 casos franca cardiomegalia y en 5 infiltrados pulmonares. Al ecocardiograma 41.7// de los pacientes (5) presentaban anormalidades, 4 presentaron disminución de la contractilidad y 1 dilatación ventricular derecha, secundaria a una pneumopatía crónica. Conclusión: La mayoría de las anormalidades cardíacas del SIDA en niños son asíntomáticas. No encontramos alteraciones en el ritmo cardíaco o derrame pericárdico en este estudio , en 5 casos