Inflammatory Myofibroblastic Tumor in the Adrenal Gland: A Case Report.

Inflammatory myofibroblastic tumors (IMTs) were first described by Harold Brunn in 1939. IMTs are mainly found in the lungs and other sites of the body; hence, its occurrence in the adrenal gland is exceptional. In the literature, less than 10 cases of IMTs in the adrenal gland have been reported. The etiology of IMT remains unknown, with post-inflammatory changes and a neoplastic origin being proposed. We present a case of a 19-year-old woman and adrenal gland IMT. The patient presented with abdominal pain and low cardiac output without hypovolemic shock. Computed tomography revealed a tumor in the adrenal gland measuring 11.4 cm with extravasation of contrast medium within the tumor. Treatment included conservative management with selective embolization due to minimal invasion of the inferior artery of the adrenal gland. The patient was then discharged with possibility of future elective surgery. Four months later, the size of the tumor decreased to 6.3 cm, and her Eastern Cooperative Oncology Group physical status was 0. The Multidisciplinary Tumor Board suggested surgical management. The final histopathology report was compatible with an IMT of the adrenal gland, with the immunohistochemical report showing positivity for anti-actin muscle-specific and anti-actin smooth muscle and negativity for anaplastic lymphoma kinase. IMTs of the adrenal gland may be treated electively through multidisciplinary management together with interventional radiology and surgery, achieving a favorable outcome for the patient.

No Increase in Complications With Intravenous Tranexamic Acid Use in Vaginoplasty: A Retrospective Study.

Background: Across surgical specialties, tranexamic acid (TXA) is applied to reduce intraoperative and postoperative bleeding. Within plastic surgery, both topical and intravenous routes are used. The application of TXA has yet to be examined in vaginoplasties. Methods: The authors performed a retrospective chart review of Mayo Clinic patients receiving penile inversion vaginoplasty from January 2017 through July 2021. Incidence of hematoma formation was assessed as the primary outcome. Secondary outcomes included perioperative hemoglobin, vaginoplasty complications, and possible TXA complications. These outcomes were compared across topical only (t-TXA), any intravenous (IV- TXA), and no TXA groups. Results: Of the 124 vaginoplasties, 21 patients received t-TXA only and 43 received any IV-TXA. Only 4 patients developed a hematoma; 2 were from the no TXA group and 2 were from the any IV-TXA group. There was no significant change in perioperative hemoglobin across groups. Analysis showed lower incidence of divergent urine stream (odds ratio [OR], 0.499 [95% confidence interval (CI)], 0.316-0.789], P = .003) and neovaginal stenosis (OR, 0.435 [95% CI, 0.259-0.731], P = .002) within the any IV-TXA group and no increased incidence of other complications. Conclusions: The use of either t-TXA or IV-TXA in vaginoplasty cases did not result in an increased rate of complications. There was no significant reduction in hematoma formation or postoperative hemoglobin decrease across groups.

Community Health Representatives as Trusted Sources for Increasing Representation of American Indian Communities in Clinical Research.

Indigenous and American Indian Alaskan Native (AI/AN) community members are systematically underrepresented in clinical trial research. This paper focuses on exploratory steps to partner with Native Nations of Arizona to engage Community Health Representatives (CHR) as a trusted source for building COVID-19 clinical trial research, including vaccine trials awareness. CHRs are frontline public health workers who apply a unique understanding of the experience, language, and culture of the population served. This workforce has entered the spotlight as essential to the prevention and control of COVID-19. METHODS: Three Tribal CHR programs were engaged to develop and refine culturally centered educational materials and a pre-post survey using a consensus-based decision-making approach. CHRs used these materials in brief education sessions during regular client home visits and community events. RESULTS: At 30 days post CHR intervention, participants (N = 165) demonstrated significantly increased awareness about and ability to enroll in COVID-19 treatment and vaccine trials. Participants also described a significant increase in trust in researchers, decreased perceived barriers related to cost for participation in a clinical trial, and improved belief that participation in a COVID-19 clinical trial for treatment was considered a benefit to American Indian and Alaskan Native people. CONCLUSION: CHRs as trusted sources of information, coupled with culturally centered education materials designed by CHRs for CHR clients, demonstrated a promising approach to improved awareness of clinical trial research generally and COVID-19 trials specifically among Indigenous and American Indian community members of Arizona.

Engaging Youth and Young Adults in the COVID-19 Pandemic Response via the "It's Our Turn" Crowdsourcing Contest.

As the coronavirus disease (COVID-19) pandemic continued to progress into 2021, appeals were made to take a stronger focus on the perceptions and practices of youth and young adults (YYAs) regarding COVID-19 mitigation, as well as the impact of mitigation strategies on the overall wellbeing of YYAs. In this paper, we describe our efforts to increase YYA engagement in Arizona's COVID-19 response by pairing embedded values from youth participatory action research (YPAR) with a crowdsourcing challenge contest design. The research protocol and implementation are described, followed by a thematic analysis of YYA-led messaging portrayed in 23 contest submissions and reflections formed by 223 community voters after viewing contest submissions. The authors conclude that a YYA-led crowdsourcing contest presented an opportunity to (a.) investigate the perceptions and behaviors of YYAs and their networks regarding the COVID-19 pandemic and mitigation efforts and (b.) amplify the voices of YYAs in the pandemic response. Perhaps even more importantly, this approach also offered insight into the exacerbated impact of the pandemic on YYA mental health and wellbeing, and the utility of YPAR in raising awareness of these effects among the contexts and social networks of YYAs.

Community Engagement Alliance (CEAL) Against COVID-19 Disparities: Academic-community partnership to support workforce capacity building among Arizona community health workers.

The COVID-19 pandemic has both highlighted and worsened existing health inequities among communities of color and structurally vulnerable populations. Community Health Workers, inclusive of Community Health Representatives (CHW/Rs) have entered the spotlight as essential to COVID-19 prevention and control. To learn about community experiences and perspectives related to COVID-19 and inform CHW/R workforce capacity building efforts, a series of focus groups were conducted with CHW/Rs throughout Arizona at two time points in 2021. Throughout the data collection and analysis process, researchers and community partners engaged in ongoing and open dialogue about what CHW/Rs on the ground were reporting as priority community concerns, needs, and challenges. Thus, CHW/Rs informed the development of culturally and linguistically relevant health education messages, materials, and training for CHW/Rs. In this community case study, we detail the efforts of partnership between a statewide CHW professional association and an academic research team that facilitated rapid decision-making and knowledge sharing to create community-grounded tools and resources supportive of CHW/R workforce capacity building in the context of the COVID-19 pandemic.

Aberrant Connection Formation and Glia Involvement in the Progression of Pharmacoresistant Mesial Temporal Lobe Epilepsy.

Epilepsy is the most common chronic neurological disease, affecting approximately 65 million people worldwide, with mesial temporal lobe epilepsy (mTLE) being the most common type, characterized by the presence of focal seizures that begin in the hippocampus, and subsequently generalize to structures such as the cerebral cortex. It is estimated that approximately 40% of patients with mTLE develop drug resistance (DR), whose pathophysiological mechanisms remain unclear. The neuronal network hypothesis is one attempt to understand the mechanisms underlying resistance to antiepileptic drugs (AEDs), since recurrent seizure activity generates excitotoxic damage and activation of neuronal death and survival pathways that, in turn, promote the formation of aberrant neuronal networks. This review addresses the mechanisms that are activated, perhaps as compensatory mechanisms in response to the neurological damage caused by epileptic seizures, but that affect the formation of aberrant connections that allow the establishment of inappropriate circuits. On the other hand, glia seems to have a relevant role in post-seizure plasticity, thus supporting the hypothesis of the neuronal network in drug-resistant epilepsy, which has been proposed for ELT.

Optimizing the Culture Medium of Lasiodiplodia sp. to Improve the Yield of Ethyl Acetate Extract as an Antimicrobial Source.

Endophytes often inhabit plant tissues and cause no disease symptoms. Lasiodiplodia is generally considered a pathogenic fungus, but such a genus is capable of producing high-value bioactive molecules, such as enzymes, secondary metabolites including antimicrobials. Therefore, Lasiodiplodia sp. endophyte was cultivated in static mode for 12 days and EtOAc extracts were obtained and evaluated against pathogens afterward. Fermentation parameters (glucose, sucrose and NaNO3) were optimized by the factorial design and response surface methodology, as these are powerful tools to provide reliable information about fungal culture conditions and EtOAc extract yields were considered as response variables. Lasiodiplodia growth curve indicated that optimal production of EtOAc extract mass was achieved after 12 days of fermentation (284 mg 300 mL-1 broth), which is in agreement with values obtained from validation tests. Minimum Inhibitory Concentration (MIC) and Minimum Microbicidal Concentration (MMC) essays suggested that the endophyte produce substances presenting antimicrobial and antifungal activities against ATCC Staphylococcus aureus and Candida albicans strains at optimum point under evaluated conditions. MIC values ranged between 50 and 100 µg mL-1 for both pathogens, while MMC of C. albicans ranged from 100 to 200 µg mL-1, which evidence its fungicidal effect. Furthermore, it was found that the EtOAc extract yield can be increased by optimizing carbon and nitrogen sources in endophyte cultivation, and there was good agreement between predicted and experimental values under optimized conditions. Thus, Lasiodiplodia fungi are promising sources of antimicrobials and changes in carbon and nitrogen sources can improve the yield of secondary metabolites according to the factorial design.

Medicinal potentialities and pathogenic profile of Lasiodiplodia genus.

Considering that current biotechnological advances have been contributing towards improving the well-being of humanity, endophytic fungi, such as Lasiodiplodia, are promising sources of new substances to be used in chemical, pharmaceutical and agrochemical processes. Bioactive secondary metabolites are examples of such substances, although it is widely known that Lasiodiplodia inflicts irreparable damage to several crops of major economic importance. They are often produced as a response against biotic and abiotic factors, thus revealing that they play different roles, such as in signaling and defense mechanisms. Therefore, this review presents a few subtle differences between pathogenicity and mutualistic endophyte-host interactions. Moreover, the main secondary metabolites produced by Lasiodiplodia endophytes have been described with respect to their relevant antimicrobial and cytotoxic activities.

Acral peeling as the sole skin manifestation of COVID-19 in children.

Skin lesions in children with proven COVID-19 are not frequent in the literature apart from those associated with multisystem inflammatory syndrome. Fortunately, microbiologic testing for SARS-CoV-2 has become widely available not only for admitted patients but also for mild cases. We present a series of 6 children with mild erythema and desquamation of the fingertips and/or toes as the only skin manifestation of COVID-19. As all children had asymptomatic to mildly symptomatic disease, it is reasonable to consider this a sign of benign disease and favorable outcome.

Diversity Matters: A 21-Year Review of Trends in Resident Recruitment into Surgical Specialties.

Background: Diversity within the healthcare workforce is essential to improve quality of care, although evaluation of diversity within surgical training remains limited. This study analyzed diversity in recruitment of residents into surgical subspecialties at a large academic medical institution and national trends. Methods: A 21-year cross-sectional study of medical school graduates accepted into all surgical subspecialty training programs was performed. The institutional cohort was divided into two groups (1997-2006, 2007-2017). Subspecialty acceptance rates were determined between 2011 and 2018. Data on candidate demographics including gender, race, ethnicity, citizenship, and origin of medical education at a single institution and nationally were extracted. Results: Two thousand found hundred seventy-two residents were included in this study. From 1997 to 2018, female acceptances increased from 21.1% to 29.7% (p < 0.01), non-White increased from 27.9% to 31.8% (p = 0.01), and international medical graduates decreased from 28.8% to 25.5% (p = 0.02). There was no significant change in accepted Hispanic and Non-US candidates. Female subspecialty rates for subspecialties increased nationally and was comparable to our cohort, except in general surgery. Hispanic subspecialty acceptance rates were less than 10% and Black/African American acceptance rates remained less than 5% across subspecialties nationally and at our institution. Conclusion: Diversity in surgical training has modestly progressed over the last two decades, but the degree of positive change has not been universal and highlights the critical need for improvement and action. Continued institution driven and collaborative strategies are essential to promote diversity in recruitment across all surgical specialties that has implications on our future workforce and surgical leadership.

Inferior pedicle breast reduction and long nipple-to-inframammary fold distance: How long is safe?

BACKGROUND: Free nipple grafting indications in breast reduction surgery are outdated. Safety of inferior pedicle technique for large resections and long pedicles has not been clearly defined. We evaluated patients who underwent inferior pedicle reduction mammoplasty to define the safety constraints of the inferior pedicle. METHODS: A retrospective review of patients who underwent inferior pedicle reduction mammoplasty due to symptomatic macromastia at Mayo Clinic over a six-year period was conducted. Patients with prior breast surgeries were excluded. Demographics, breast measurements, and surgical outcomes were collected. Univariate and multivariate analyses were performed to assess for predictors of necrosis. RESULTS: Overall, 288 patients (576 breasts) underwent inferior pedicle breast reduction from 2014 to 2019. The mean sternal notch-to-nipple (SNN) distance was 31.5 cm (standard deviation[SD]:4.2; range[r]:16-48), and the mean nipple-to-inframammary fold (N-IMF) distance was 14.8 cm (SD:4.0; r:7.5-27). The mean resection weight was 699.6 g (SD:310.4; r:125-2,385). The median follow-up was 3.9 months (interquartile range[IQR]:2.8-9.0). The overall skin or nipple areolar complex necrosis rate was 2.1%; the overall complication rate was 14.8%. On multivariate analysis, overall necrosis was not found to be associated with the N-IMF distance (adjusted odds ratio[aOR]:1.05, 95%-CI 0.88-1.16). Resection weight was statistically associated with an increased risk of overall necrosis (aOR:1.003, 95%-CI 1.001-1.005), adjusting for N-IMF and SNN distances. CONCLUSION: Inferior pedicle breast reduction offers low risk of necrosis and can be safely performed in patients regardless of the N-IMF distance. No association was found between N-IMF distance and overall necrosis in our cohort, including lengths >15 cm. However, large resections could increase the risk of necrosis.

Índice de asimetría bilateral morfológica de extremidades inferiores y superiores en jugadores de baloncesto universitario / The upper and lower limb bilateral morphological asymmetry index in university basketball players

Introducción: El baloncesto es objeto de múltiples estudios que incluye la valoración mediante tecnologías actuales como la bioimpedancia. Objetivo: Comparar los índices de asimetría (IA) de las extremidades superiores e inferiores en jugadores de baloncesto universitario por nivel deportivo. Método: Se evaluaron 24 jugadores de baloncesto de diferente nivel competitivo, representativo 1) universitario (n = 12) y 2) facultad (n = 12). Se determinó la circunferencia de brazos y piernas, además de masa magra y grasa por bioimpedancia. Se determinó el índice de asimetría de los miembros inferiores y superiores y se compararon por nivel deportivo. Resultados: La comparación de los índices de asimetría entre brazos y piernas en el grupo total identificó diferencias estadísticamente significativas (p < 0,05) en lo referente a la masa grasa, con mayor adiposidad en extremidades superiores, y un índice de asimetría de -10,8. Cuando se compararon las mismas variables en función del nivel deportivo, los jugadores representantes de la universidad mostraron mayores valores (p < 0,05) en el índice de asimetría de la masa total, circunferencias, masa magra y masa grasa. Las comparaciones intergrupales señalan diferencias en los índices de asimetría del brazo vs. la pierna en masa magra para ambos grupos (p < 0,05) mientras que los de la facultad mostraron diferencia también para grasa con índice de asimetría de 18,3 (p < 0,05). Conclusiones: Indistintamente del nivel deportivo, existen diferentes niveles del índice de asimetría entre extremidades superiores e inferiores en el componente de masa grasa, aunque menores valores del índice de asimetría fueron característicos de los individuos de mayor nivel deportivo(AU)

Introduction: Basketball has been the object of many studies, including assessments based on current technologies such as bioimpedance. Objective: Compare the asymmetry indices (AI) for upper and lower limbs in university basketball players. Methods: An evaluation was conducted of 24 basketball players from different competitive levels, representing 1) the university (n = 12) and 2) the school (n = 12). Determination was made of arm and leg circumference, as well as lean mass and fat by bioimpedance. The lower and upper limb asymmetry index was estimated and compared between the competitive levels. Results: Comparison of the arms and legs asymmetry indices in the total group revealed statistically significant differences (p < 0.05) as to fat mass, with greater adiposity in the upper limbs and an asymmetry index of 10.8. Comparison of the same variables between the sports levels found that players representing the university displayed higher values (p < 0.05) in the asymmetry index for total mass, circumferences, lean mass and fat mass. Comparison between the groups found differences in the arm vs. leg asymmetry indices for lean mass in both groups (p < 0.05), whereas the school players also showed differences for fat, with an asymmetry index of 18.3 (p < 0.05). Conclusions: Regardless of the sports level, different asymmetry indices are found between upper and lower limbs as to fat mass, though smaller asymmetry index values were characteristic of individuals from a higher sports level(AU)

First report of Fusarium falciforme (FSSC 3+4) causing wilt disease of Phaseolus vulgaris in Mexico.

Bean (Phaseolus vulgaris) is the second most important crop in Mexico after corn due to the high consumption of beans in all regions of the country. In the winter (January 2016), bean plants showing wilting, root discoloration and necrosis were observed, with an incidence of approximately 30% in different fields (<1 ha) in Tecoanapa, Guerrero State, Mexico. Symptomatic fine roots (<2 mm) were cut into 0.5 cm long pieces, washed with tap-water, surface disinfected with 1.5% NaOCl for 3 min, and rinsed with sterile distilled water. Thirty-five pieces were placed on potato dextrose agar (PDA, Difco) and incubated at 25 ℃ for seven days. Then, single-spore isolates were obtained. Colonies on PDA showed abundant white aerial mycelium and a growth rate of 4.5 mm/day, and in reverse, colonies were white/pink with a brown centre. Microconidia were cylindrical to ellipsoid, aseptate, hyaline and 7.8-(6.0)-4.7 × 2.7-(2.1)-1.6 µm. On carnation leaf agar, macroconidia were 37.8-(29.4)-23.5 × 4.1-(3.5)-2.6 µm, hyaline, falcate, with slightly curved apexes, and 3-5 septa. Chlamydospores were round, intercalary, hyaline, single or in chains (Boot 1971). A representative strain (CSAEGRO-AyDi-Ef) was analyzed by PCR and the translation elongation factor 1-alpha (tef1) gene (GenBank accession number MK945757) was sequenced using the EF-1/EF-2 primers (O'Donnell 2000). FUSARIUM-ID (Geiser et al. 2004) analysis showed 100% similarity with the Fusarium solani species complex (FSSC 3+4) strain NRRL28562. In addition, Bayesian phylogenetic analysis placed this strain in the Fusarium falciforme clade. A pathogenicity test was performed by immersing healthy plant roots (cv. Negro Jamapa) in 200 mL of a conidial suspension (50×106 conidia mL-1) for 10 min, and then transplanting the plants into pots. Control plants were immersed in sterile distilled water. Similar symptoms as those in the field were observed at 10 days after inoculation, and the controls were healthy. The fungus was reisolated from infected plants and showed the same morphology and tef1 sequence as the original isolate, fulfilling Koch's postulates. Recently, F. falciforme was reported to cause wilting of P. vulgaris in Cuba (Duarte et al. 2019); however, this is the first report of F. falciforme (FSSC 3+4) causing wilt disease of P. vulgaris in Mexico. This species was previously reported in Mexico affecting onion (Tirado-Ramírez et al. 2018), papaya, tomato (Vega-Gutiérrez et al. 2019a, b), and maize (Douriet-Angulo et al. 2019), suggesting an ample host range in the country.

Características histopatológicas del carcinoma colorrectal con inestabilidad microsatelital (IMS) / Histopathologic characteristics of microsatellite instability in colorectal cancer

El carcinoma colorrectal es una de las neoplasias con mayor incidencia a nivel mundial. Algunos de los tipos tienen componente hereditario y asociación con defectos en la reparación génica a nivel replicacional, por mutaciones en los genes encargados (MLH1, MSH2, MSH6 y PMS2), llamándose esto la inestabilidad microsatelital. Esta situación se acompaña de mayor predisposición a desarrollar carcinoma colorrectal y algunos extracolónicos que incluyen cáncer de estómago, endometrio, ovarios y tracto urinario, entre otros. Es importante, entonces, evaluar la presencia de la inestabilidad microsatelital a nivel histopatológico conociendo que hay ciertos hallazgos que hacen sospechar la presencia de estas alteraciones genéticas, tales como la presencia de linfocitos intraepiteliales, infiltrado inflamatorio Crohn-like , el subtipo histológico y la localización. El objetivo de este artículo es revisar en detalle algunas características de las variables mencionadas, así como resaltar la importancia de otras variables histopatológicas con impacto pronóstico.

Colorectal cancer (CRC) is one of the most common cancers in the world. Some have a heritable component and are associated with a genetic defect in replication error repair due to MLH1, MSH2, MSH6 and PMS2 genes mutations known as microsatellite instability. This entails a greater predisposition to CRC and other extracolonic cancers including stomach, endometrium, ovary and urinary tract cancers, among other. Thus, it is important to detect histologic microsatellite instability through certain findings such as intraepithelial infiltrating lymphocytes, Crohn-like inflammatory reaction, histologic subtype and anatomical location leading to suspect the presence of genetic alterations. The objective of this article was to examine some features of said variables in detail and highlight the importance of other histopathologic variables with prognostic significance.

Endophytic fungi isolated from medicinal plants: future prospects of bioactive natural products from Tabebuia/Handroanthus endophytes.

Medicinal plants are a rich source of natural products used to treat many diseases; therefore, they are the basis for a new drug discovery. Plants are capable of generating different bioactive secondary metabolites, but a large amount of botanical material is often necessary to obtain small amounts of the target substance. Nowadays, many medicinal plants are becoming rather scarce. For this reason, it is important to point out the interactions between endophytic microorganisms and the host plant, because endophytes are able to produce highly diverse compounds, including those from host plants that have important biological activities. Thence, this review aims at presenting the richness in bioactive compounds of the medicinal plants from Tabebuia and Handroanthus genera, as well as important aspects about endophyte-plant interactions, with emphasis on the production of bioactive compounds by endophytic fungi, which has been isolated from various medicinal plants for such a purpose. Furthermore, bio-prospection of natural products synthesized by endophytes isolated from the aforementioned genera used in traditional medicine could be used to treat illnesses.

Diagnosis and Integrated Management of Fruit Rot in Cucurbita argyrosperma, Caused by Sclerotium rolfsii.

Fruit rot is the principal phytopathological problem of pipiana pumpkin (Cucurbita argyrosperma Huber) in the state of Guerrero. The aims of this research were to 1) identify the causal agent of southern blight on pumpkin fruits by morphological, pathogenic, and molecular analysis (ITS1, 5.8S, ITS2); 2) evaluate in vitro Trichoderma spp. strains and chemical fungicides; and 3) evaluate under rainfed field conditions, the strains that obtained the best results in vitro, combined with fungicides during two crop cycles. Number of commercial and non-commercial fruits at harvest, and seed yield (kg ha-1) were registered. Morphological, pathogenic and molecular characterization identified Sclerotium rolfsii as the causal agent of rot in pipiana pumpkin fruits. Now, in vitro conditions, the highest inhibition of S. rolfsii were obtained by Trichoderma virens strain G-41 (70.72%), T. asperellum strain CSAEGro-1 (69%), and the fungicides metalaxyl (100%), pyraclostrobin (100%), quintozene (100%), cyprodinil + fludioxonil (100%), and prochloraz (100%). Thiophanate-methyl only delayed growth (4.17%). In field conditions, during the spring-summer 2015 cycle, T. asperellum strain CSAEGro-1 + metalaxyl, and T. asperellum + cyprodinil + fludioxonil, favored the highest number of fruits and seed yield in the crop.

Dolor abdominal crónico asociado con agenesia total de mesenterio / Chronic abdominal pain associated with total mesentery agenesis

La agenesia del mesenterio es una anomalía rara y por esta razón no se piensa cuando se tiene una historia de dolor crónico abdominal. Se han reportado casos de agenesia de mesenterio, partes de intestino y arteria mesentérica superior, junto con atresia intestinal. Este caso corresponde a un paciente pediátrico con agenesia total de mesenterio asociada con vólvulo del íleon y malrotación intestinal. El dolor abdominal crónico en la población pediátrica es una de las consultas más frecuentes en urgencias. Las causas son múltiples pero es importante establecer el diagnóstico oportuno para evitar desenlaces fatales

Mesenteric agenesis is a rare anomaly often not suspected in a child presenting with chronic abdominal pain. Several cases of mesenteric, bowel and upper mesenteric artery agenesis in association with bowel atresia have been reported. Herein, we report a child with total mesenteric agenesis presenting with ileal volvulus and bowel malrotation. Chronic abdominal pain is one the most common complaints in children presenting for emergency care evaluation. The etiologies are multiple but a timely diagnosis is necessary to prevent fatal outcomes.

Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.

BACKGROUND: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse. OBJECTIVE: To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. METHODS: We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients. Patients selected for data analysis matched "definite", "probable" and "possible" case definitions as established by MD STARnet. RESULTS: A total of 141 patients matched the inclusion criteria, with 64.5% and 35.5% being categorized into DMD and BMD, respectively. DMD and BMD prevalence in Puerto Rico was estimated at 5.18 and 2.84 per 100,000 males, respectively. Deletion was the most common form of mutation (66.7%) in the dystrophin gene, with exons in segment 45 to 47 being the most frequently affected. CONCLUSIONS: This is the first report of the prevalence and genetic profile characteristics of DMD and BMD in Puerto Rico. Prevalence of DMD was similar to that reported worldwide, while prevalence of BMD was higher. Genetic profile was consistent with that reported in the literature.

Visual and instrumental correlation of sparkle by the magnitude estimation method.

Most real surfaces and objects show variations in appearance with viewing and illumination directions. Besides angular dependency, they also show spatial variation in color, i.e., they exhibit some sort of texture. Of the surfaces we see, surfaces colored by special-effect pigments produce several complex visual effects, like change in color and lightness with viewing and illumination angles, and effects like sparkle and gloss on other textures. In the last two decades, different commercial devices have appeared to help ensure the proper characterization of materials with special-effect pigments. However, the instrumental characterization of sparkle is currently available only by a commercial device integrated into a multi-angle spectrophotometer. As it is difficult to find complete open original studies about the sparkle effect for designing and calibrating this commercial instrument, the main objective of this work was to check whether a good visual and instrumental correlation exists between the sparkle that the observer perceives and the sparkle value provided by the device using some subsets of goniochromatic samples with different types of special-effect pigments and colors. Visual assessments were made by a conventional magnitude estimation method in a directional lighting booth, which belonged to the same company owner of the sparkle instrument, in different geometries and at distinct illuminance levels. The results revealed that there was a good visual correlation of the sparkle grade value. By separately analyzing the factors used in its instrument algorithm, such as sparkle intensity and sparkle area values, it was clearly shown that the correlation was not good or simply did not exist. Consequently, and perhaps in regards to the choice of new special-effect pigments, such as synthetic mica and other future ones, we generated herein even more questions about current mathematical algorithms, and only recognized calculating this texture effect at the industrial level.

Cystathionine: A novel oncometabolite in human breast cancer.

In this study, we have identified cystathionine (CTH), a sulfur containing metabolite, to be selectively enriched in human breast cancer (HBC) tissues (∼50-100 pmoles/mg protein) compared with undetectable levels in normal breast tissues. The accumulation of CTH, specifically in HBC, was attributed to the overexpression of cystathionine beta synthase (CBS), its synthesizing enzyme, and the undetectable levels of its downstream metabolizing enzyme, cystathionine gamma lyase (CGL). Interestingly both CBS and CGL could not be detected in normal breast tissues. We further observed that CTH protected HBC cells against excess reactive oxygen species (ROS) and chemotherapeutic drug-induced apoptosis. Moreover, CTH promoted both mitochondrial and endoplasmic reticulum homeostasis in HBC cells. As both the mitochondria and the endoplasmic reticulum are key organelles regulating the onset of apoptosis, we reasoned that endogenous CTH could be contributing towards increasing the apoptotic threshold in HBC cells. An increased apoptotic threshold is a hallmark of all cancer types, including HBC, and is primarily responsible for drug resistance. Hence this study unravels one of the possible pathways that may contribute towards drug resistance in HBC.