First trimester cavum veli interpositi: prevalence and natural history.

OBJECTIVE: To confirm the identity and assess the prevalence and evolution of the fluid-filled interhemispheric midline structure, potentially the cavum veli interpositi (CVI), in fetuses from 11 to 14 weeks gestation. METHODS: A retrospective review of first trimester ultrasounds was performed over three months. Criteria included singleton pregnancies at a gestational age of 11-14 weeks gestation with known outcomes. Five experts reviewed the images. Mixed-effects logistic regression and generalized estimating equations (GEE) were conducted to analyze the associations between the first appearance of the structure and variables like scan route, maternal BMI, gestational age, CRL, and BPD. Second trimester evaluation of CNS, at 18-24 weeks gestation, for those in whom the structure was identified in the first trimester were then evaluated for its persistence. RESULTS: Of 104 qualifying patients from the 223 reviewed, the CVI was found in 25 (24%). There was no statistically significant difference in its visualization between transabdominal and transvaginal ultrasound examinations. GEE revealed significant associations between the first appearance of the fetal structure and CRL and BPD: odds ratios of 1.32 (p < 0.0001) and 1.88 (p = 0.0011) per 10-unit increase, respectively. Maternal BMI and gestational age showed no significant effect on the first appearance of the CVI. In second trimester follow-ups, 44% still showed a CVI, 32% had a cavum vergae, 4% had both, 20% had none. CONCLUSIONS: Based on its anatomical location and the separate visualization of the third ventricle in some fetuses, the interhemispheric midline structure visualized in the suprathalamic region of the fetal brain between 11-14 weeks of gestation is the CVI. It remained present in 80% of initially identified fetuses in the second trimester. Its presence is not linked to pathology, offering reassurance to practitioners and parents. This article is protected by copyright. All rights reserved.

Graduate Student Literature Review: Mitochondrial response to heat stress and its implications on dairy cattle bioenergetics, metabolism, and production.

The dairy industry depends upon the cow's successful lactation for economic profitability. Heat stress compromises the economic sustainability of the dairy industry by reducing milk production and increasing the risk of metabolic and pathogenic disease. Heat stress alters metabolic adaptations, such as nutrient mobilization and partitioning, that support the energetic demands of lactation. Metabolically inflexible cows are unable to enlist the necessary homeorhetic shifts that provide the needed nutrients and energy for milk synthesis, thereby impairing lactation performance. Mitochondria provide the energetic foundation that enable a myriad of metabolically demanding processes, such as lactation. Changes in an animal's energy requirements are met at the cellular level through alterations in mitochondrial density and bioenergetic capacity. Mitochondria also act as central stress modulators and coordinate tissues' energetic responses to stress by integrating endocrine signals, through mito-nuclear communication, into the cellular stress response. In vitro heat insults affect mitochondria through a compromise in mitochondrial integrity, which is linked to a decrease in mitochondrial function. However, limited evidence exists linking the in vivo metabolic effects of heat stress with parameters of mitochondrial behavior and function in lactating animals. This review summarizes the literature describing the cellular and subcellular effects of heat stress, with a focus on the effect of heat stress on mitochondrial bioenergetics and cellular dysfunction in livestock. Implications for lactation performance and metabolic health are also discussed.

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype-genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions-MLRB2 in α1(I) and MLBR 3 in α2(I)-could significantly predict DI (P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.

Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.

Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.

Oral Manifestations in Patients with COVID-19: A 6-Month Update.

This is the first update of the previously published living systematic review that summarized evidence on the prevalence of oral signs and symptoms in patients with COVID-19. Hitherto, 183 studies were included, reporting data from 64,876 patients with COVID-19 worldwide. The overall prevalence of taste disorders was 38% (95% CI = 22% to 56%, I2 = 98%). Hypogeusia, dysgeusia, and ageusia were also evaluated by a meta-analysis, and the pooled prevalence was 34% for hypogeusia, 33% for dysgeusia, and 26% for ageusia. Taste disorders were associated with a positive COVID-19 test (odds ratio [OR] = 7.54, 95% CI = 5.24 to 10.86, I2 = 93%, P < 0.00001), showing high certainty of evidence. However, the association between taste disorders and mild/moderate severity of COVID-19 (OR = 1.63, 95% CI = 1.33 to 1.99, I2 = 69%, P < 0.0001) and female patients with COVID-19 (OR = 1.77, 95% CI = 1.26 to 2.48, I2 = 79%, P = 0.001) presented low certainty of evidence. Xerostomia was a new feature of this update, and the pooled data demonstrated a prevalence of 43% (95% CI = 36% to 50%, I2 = 71%) in patients with COVID-19. Regarding oral mucosal lesions, the most common clinical pattern was aphthous like, followed by herpes-like lesions, candidiasis, glossitis/depapillation/geographic tongue, parotitis, and angular cheilitis. Oral lesions were more frequent in the tongue, lips, and palate, presenting miscellaneous clinical aspects that are more likely to represent coinfections. Therefore, the reanalysis of current evidence suggests the triad xerostomia, taste dysfunction, and oral mucosal lesions as common manifestations in patients with COVID-19. However, these outcomes are under discussion, and more studies will be necessary to confirm their association with direct SARS-CoV-2 infection in the oral cavity.

Oral Manifestations in Patients with COVID-19: A Living Systematic Review.

This living systematic review aims to summarize evidence on the prevalence of oral signs and symptoms in patients with COVID-19. The review was reported per the PRISMA checklist, and the literature search was conducted in 6 databases and in gray literature. Studies published in any language mentioning oral symptoms and signs in patients with COVID-19 were included. The risk of bias was assessed by the Joanna Briggs Institute appraisal tools. The certainty of evidence was evaluated through GRADE assessment. After a 2-step selection, 40 studies were included: 33 cross-sectional and 7 case reports. Overall, 10,228 patients (4,288 males, 5,770 females, and 170 unknown) from 19 countries were assessed. Gustatory impairment was the most common oral manifestation, with a prevalence of 45% (95% CI, 34% to 55%; I2 = 99%). The pooled eligible data for different taste disorders were 38% for dysgeusia and 35% for hypogeusia, while ageusia had a prevalence of 24%. Taste disorders were associated with COVID-19 (odds ratio [OR], 12.68; 95% CI, 6.41 to 25.10; I2 = 63%; P < 0.00001), mild/moderate severity (OR, 2.09; 95% CI, 1.25 to 3.49; I2 = 66%; P = 0.005), and female patients (OR, 1.64; 95% CI, 1.23 to 2.17; I2 = 70%; P = 0.0007). Oral mucosal lesions presented multiple clinical aspects, including white and erythematous plaques, irregular ulcers, small blisters, petechiae, and desquamative gingivitis. Tongue, palate, lips, gingiva, and buccal mucosa were affected. In mild cases, oral mucosal lesions developed before or at the same time as the initial respiratory symptoms; however, in those who required medication and hospitalization, the lesions developed approximately 7 to 24 d after onset symptoms. Therefore, taste disorders may be common symptoms in patients with COVID-19 and should be considered in the scope of the disease's onset and progression. Oral mucosal lesions are more likely to present as coinfections and secondary manifestations with multiple clinical aspects (PROSPERO CRD42020184468).

Recomendación para la sospecha, manejo y seguimiento del compromiso cardiovascular en pacientes con Síndrome Inflamatorio Multisistémico en Pediatría asociado a COVID-19 (PIMS-TC). Declaración de Posición de la Sociedad Chilena de Pediatría (SOCHIPE) y Sociedad Chilena de Cardiología y Cirugía Cardiovascular (SOCHICAR) / Recommendation for the recognition, management and follow up of cardiovascular compromise in patients with Pediatric Multisystemic Inflammatory Syndrome associated with COVID-19 (PIMS-CT). Position statement of Chilean Scientific Societies

Desde la aparición de la pandemia por SARS-CoV-2, la población pediátrica ha sido menos afectada por la enfermedad tanto en frecuencia como en severidad. Sin embargo, desde abril de este año se han reportado casos de presentación y gravedad variables, caracterizados por fenómenos inflamato rios que afectan múltiples órganos, condición denominada Síndrome Inflamatorio Multisistémico Pediátrico (PIMS). La literatura describe frecuente compromiso cardíaco, hasta en un 80%. Este se caracteriza por injuria miocárdica con significativa elevación de biomarcadores: Troponinas séricas I/T, BNP o NT-ProBNP, unido a diversos grados de disfunción ventricular, pericarditis, valvulitis y arritmias. Además, se ha evidenciado la presencia de compromiso coronario el cual puede ocurrir hasta en un 23% de los casos, en un rango que va desde dilataciones hasta aneurismas. El seguimien to cardiológico hospitalizado y ambulatorio se ha sistematizado en base a los fenotipos clínicos de presentación: injuria miocárdica (miocarditis, valvulitis, pericarditis), shock (habitualmente de tipo "vasopléjico"), manifestaciones tipo Enfermedad de Kawasaki y aquellos casos PIMS que no cumplen con la clínica de los tres precedentes. Este último grupo es el que representa el mayor desafío en el cor to, mediano y seguimiento a largo plazo. Por esta razón se requiere un equipo multidisciplinario para su manejo. Considerando la alta frecuencia del compromiso cardíaco en el PIMS y la importancia de lograr un consenso en su manejo y seguimiento, se presentan estas recomendaciones según el estado actual del conocimiento de esta patología recientemente descrita.

Since the onset of the SARS-CoV-2 pandemic, the pediatric population has been less affected by the disease both in frequency and severity. However, since April cases of variable presentation and severity characterized by inflammatory phenomena that affect multiple organs have been reported, a condition called Multisystem Inflammatory Syndrome in Children (MIS-C). The literature has reported frequent cardiac involvement, up to 80%. This is characterized by myocardial injury with a significant increase of biomarkers such as serum troponins I and T, BNP, or NT-ProBNP coupled with varying degrees of ventricular dysfunction, pericarditis, valvulitis, and arrhythmias. Coronary compromise has also been described, which can occur in up to 23% of cases, and ranges from dila tations to aneurysms. Inpatient and outpatient cardiology follow-up has been systematized based on the clinical phenotypes such as myocardial injury (myocarditis, valvulitis, pericarditis), shock (usua lly vasoplegic), Kawasaki disease-type manifestations, and those MIS-C that do not comply with the clinic of the previous three. This last group represents the main challenge in the short-, medium- and long-term follow-up, therefore, it is necessary a multidisciplinary team for managing these patients. Considering the high frequency of cardiac compromise in MIS-C, and the importance of reaching a consensus regarding its management and follow-up, we present these recommendations according to the current state of knowledge regarding this recently described pathology.

A simple method for SARS-CoV-2 detection by rRT-PCR without the use of a commercial RNA extraction kit.

The World Health Organization (WHO) has declared a pandemic caused by a new coronavirus named SARS-CoV-2. The growing demand for commercial kits used for automated extraction of SARS-CoV-2 RNA, a key step before rRT-PCR diagnosis, could cause a shortage of stocks that hinders the rapid processing of samples. Although the recommendation is to use automated methods for nucleic acid extraction, alternatives are necessary to replace commercial kits. However, these alternatives should be as reliable as automated methods. This work describes a simple method to detect SARS-CoV-2 from specimens collected in different preservation media. Samples were previously inactivated by heating and precipitating with a PEG/NaCl solution before rRT-PCR assays for Orf1ab, N and S genes. The new method was compared with an automated protocol of nucleic acid extraction. Both procedures showed similar analytical results. Consequently, this simple and inexpensive method is a suitable procedure for laboratory diagnosis of SARS-CoV-2 infection.

Hospitalization costs for patients colonized with carbapenemase-producing Enterobacterales during an Australian outbreak.

BACKGROUND: Carbapenem-producing Enterobacterales are an expanding group of Gram-negative bacteria that are resistant to carbapenems and cause over 9000 cases of hospital-associated infections in the USA. Efforts to quantify the economic and societal burden to healthcare are important to inform resource planning to implement infection control programmes. AIM: We estimated the healthcare costs during an outbreak of carbapenemase-producing Escherichia coli OXA-181 in Australia. We aimed to understand the economic burden to hospitals of patients who are asymptomatically colonized with high-risk bacteria. METHODS: Hospital admissions data and associated costs were obtained from the State Health Department. Colonized patients were matched to non-colonized patients on age, sex, admission ward and diagnostic category. Mean healthcare costs and length of stay were examined using generalized linear models and accounted for time-dependent bias, patient age and ward location. FINDINGS: On average, colonized patients had six times higher mean costs (AU$155,784; 95% confidence interval (CI): AU$77,892-285,604) than non-colonized patients (AU$25,964). Mean costs for those aged 75-79 years were 50% lower (P=0.02) compared with the youngest subgroup, 35-39 years of age. The mean extended length of stay was 12 days (95% CI: 3-21) for colonized patients. Nursing care was the main driver of overall costs for colonized (44%) and non-colonized (39%) patients. CONCLUSION: Patients colonized with carbapenem-producing Enterobacterales during an official hospital outbreak incurred higher costs than non-colonized patients. Although infected patients incur substantial economic burden to hospitals, the costs incurred by colonized patients is also high.

Indoor tanning prevalence after the International Agency for Research on Cancer statement on carcinogenicity of artificial tanning devices: systematic review and meta-analysis.

BACKGROUND: Exposure to artificial tanning devices is carcinogenic to humans, and government regulations to restrict or ban indoor tanning appear to be increasing. OBJECTIVES: We evaluated changes in the international prevalence of indoor tanning among adolescents and adults after artificial tanning devices were classified as carcinogenic by the International Agency for Research on Cancer (IARC) in 2009. METHODS: Systematic searches in PubMed and Web of Science databases were undertaken. Overall, 43 studies reporting 'ever' or 'past-year' indoor tanning exposure after 2009 were identified. We used metaregression analysis to evaluate the prevalence of indoor tanning over time. Random effects meta-analysis was used to summarize the prevalence of indoor tanning in adolescents and adults according to sex, region and presence of age prohibitions. RESULTS: Global prevalence of indoor tanning in adolescents for 2013-2018 was 6·5% [95% confidence interval (CI) 3·3-10·6], 70% lower than the 22·0% (95% CI 17·2-26·8) prevalence for 2007-2012. Among adults, the prevalence was 10·4% (95% CI 5·7-16·3) for 2013-2018, a decrease of 35% from 18·2% for 2007-2012. Since 2009, the overall past-year prevalence among adolescents was 6·7% (95% CI 4·4-9·6) and 12·5% (95% CI 9·5-15·6) among adults. The prevalence of tanning indoors in the past year was similar in North America (adults, 12·5%; adolescents, 7·6%) and Europe (adults, 11·1%; adolescents, 5·1%). In 2009, three countries had regulations restricting indoor tanning, compared with 26 countries today. CONCLUSIONS: Prevalence of indoor tanning has declined substantially and significantly in adolescents and adults since the 2009 IARC statement, reflecting the rise in regulations that limit this source of unnecessary exposure to carcinogenic ultraviolet radiation. What is already known about this topic? Indoor tanning is associated with an increased risk of melanoma. A meta-analysis of worldwide indoor tanning prevalence for 1986-2012 found a past-year prevalence of 18% in adolescents and 14% in adults, with higher prevalences during the period 2007-2012. Policies to regulate indoor tanning began to be implemented across the globe in 2009. Only one study carried out in the U.S.A. has evaluated the efficacy of such policies in reducing indoor tanning prevalence. What does this study add? For the period 2013-2018, we found indoor tanning prevalences of 6·7% in adolescents and 11·9% in adults. This implies a reduction in indoor tanning use of 70% in adolescents and 35% in adults during the last 10 years. Our study encourages policy makers to strengthen indoor tanning regulations that reduce sunbed use among the general population in order to produce maximum public health benefit.

[Recommendation for the recognition, management and follow up of cardiovascular compromise in patients with Pediatric Multisystemic Inflammatory Syndrome associated with COVID-19 (PIMS-CT). Position statement of Chilean Scientific Societies]. / Recomendación para la sospecha, manejo y seguimiento del compromiso cardiovascular en pacientes con Síndrome Inflamatorio Multisistémico en Pediatría asociado a COVID-19 (PIMS-TC). Declaración de Posición de la Sociedad Chilena de Pediatría (SOCHIPE) y Sociedad Chilena de Cardiología y Cirugía Cardiovascular (SOCHICAR).

Since the onset of the SARS-CoV-2 pandemic, the pediatric population has been less affected by the disease both in frequency and severity. However, since April cases of variable presentation and severity characterized by inflammatory phenomena that affect multiple organs have been reported, a condition called Multisystem Inflammatory Syndrome in Children (MIS-C). The literature has reported frequent cardiac involvement, up to 80%. This is characterized by myocardial injury with a significant increase of biomarkers such as serum troponins I and T, BNP, or NT-ProBNP coupled with varying degrees of ventricular dysfunction, pericarditis, valvulitis, and arrhythmias. Coronary compromise has also been described, which can occur in up to 23% of cases, and ranges from dila tations to aneurysms. Inpatient and outpatient cardiology follow-up has been systematized based on the clinical phenotypes such as myocardial injury (myocarditis, valvulitis, pericarditis), shock (usua lly vasoplegic), Kawasaki disease-type manifestations, and those MIS-C that do not comply with the clinic of the previous three. This last group represents the main challenge in the short-, medium- and long-term follow-up, therefore, it is necessary a multidisciplinary team for managing these patients. Considering the high frequency of cardiac compromise in MIS-C, and the importance of reaching a consensus regarding its management and follow-up, we present these recommendations according to the current state of knowledge regarding this recently described pathology.

Factors associated with delay in undescended testis referral.

INTRODUCTION: Undescended testis (UDT) is one of the most common congenital disorders and is associated with infertility and testicular cancer. Multiple guidelines internationally have recommended orchiopexy by 18 months. Multiple large retrospective studies published in the last decade have found persistent delay in timing of orchiopexy. OBJECTIVE: The aim of the study was to determine timing at which UDTs are referred at the tertiary pediatric hospital and assess factors that are associated with delay in UDT referral. STUDY DESIGN: Based on clinical observations and previous data, a series of clinical and socio-economic variables were constructed to design a prospective database. All patients who underwent orchiopexy for UDT from March 1, 2017, to August 31, 2018, were reviewed for demographic and clinical data. Referral appointments after 18 months were considered delayed. Factors associated with delay in UDT referral were analyzed using univariate and multivariate analysis with logistic regression. RESULTS: One hundred seventy-eight patients underwent orchiopexy for UDT. The median age was 44 months, and 64% of them had delay in referral. On univariate analysis, normal birth testicular examination, diagnosis of 'retractile testicle,' long gap without seeing pediatrician, diagnosis by a new physician, and primary language non-English were associated with delayed UDT referral. On multivariate analysis, delayed referral was associated with normal testicular examination at birth, history of 'retractile testis,' diagnosis not by the regular primary care provider, and other health or social issues that may have led to delay. DISCUSSION: This is the first prospective study analyzing timing of referral for boys with cryptorchidism. It was found that timing of treatment of UDT with orchiopexy has not improved over the last decade. Major causes in delay in referral may be due to poor of education of families and lack of routine testicular examinations by referring providers. Secondary ascent may account a significant number of delayed orchiopexy cases. CONCLUSION: Most patients at Doernbecher had delayed referral of cryptorchidism. Factors associated with delay were determined. To improve treatment of cryptorchidism, quality-based interventions and the importance of education and routine testicular examinations need to be focused on.

The effects of a multidisciplinary high-throughput skin clinic on healthcare costs of organ transplant recipients.

BACKGROUND: A long-term complication among organ transplant recipients (OTRs) is skin malignancies which are associated with level and duration of immunosuppressive treatment, sun exposure and age. Dermatological surveillance is recommended for OTRs at high risk of skin malignancies, but evidence is lacking on the benefits of such services. OBJECTIVE: To examine the economic impact on patients and on the hospital service of a multidisciplinary high-throughput skin cancer clinic in Brisbane, Australia, dedicated to dermatological and surgical care of high-risk OTRs. METHODS: In a pre/postdesign, hospital admission and cost data were obtained for 101 consecutively enrolled study participants from 12 months prior to the introduction of the clinic (to February 2016), the 3-month 'run-in' period (March to May 2016) and 12 months subsequent (to June 2017). Differences between pre- and post-clinic hospital costs were tested using non-parametric bootstrapping and interrupted time series analysis. A survey of patient out-of-pocket costs and perceived financial burden was also undertaken during the clinic. RESULTS: Overall hospital costs were higher after the clinic but 3-monthly hospital costs for skin procedures trended downwards. Despite 3-monthly mean, hospital visits increasing from 85 to 314, mean 3-monthly costs reduced by AU$1491 (P < 0.001) indicating greater cost efficiency. Total patient out-of-pocket costs were AU$18 377 over 3 months. CONCLUSION: Clinical costing data revealed higher, more rapid throughput and significantly lower per patient costs pre- and postestablishment of a multidisciplinary skin cancer clinic for OTRs.

Image processing and machine learning in the morphological analysis of blood cells.

INTRODUCTION: This review focuses on how image processing and machine learning can be useful for the morphological characterization and automatic recognition of cell images captured from peripheral blood smears. METHODS: The basics of the 3 core elements (segmentation, quantitative features, and classification) are outlined, and recent literature is discussed. Although red blood cells are a significant part of this context, this study focuses on malignant lymphoid cells and blast cells. RESULTS: There is no doubt that these technologies may help the cytologist to perform efficient, objective, and fast morphological analysis of blood cells. They may also help in the interpretation of some morphological features and may serve as learning and survey tools. CONCLUSION: Although research is still needed, it is important to define screening strategies to exploit the potential of image-based automatic recognition systems integrated in the daily routine of laboratories along with other analysis methodologies.

RNASEH1 gene variants are associated with autoimmune type 1 diabetes in Colombia.

BACKGROUND: In a previous work, we found linkage and association of type 1 diabetes (T1D) to a 12 known gene region at chromosome 2p25 in Colombian families. Here, we present further work on this candidate region. MATERIALS AND METHODS: Seventeen SNPs located on the 12 candidate genes, in 100 familial trios set, were tested by ARMS-tetraprimer-PCR or PCR-RFLP. Five extra SNPs in the vicinity of rs10186193 were typed. A replica phase included 97 novel familial trios, in whom diabetes-related auto-antibodies (AABs) were tested in sera of the patients. In addition to transmission disequilibrium tests, haplotype analyses were carried out using the unphased software. RESULTS: SNP rs10186193 (at RNASEH1 gene) showed association with T1D (P = 0.005). The additional five SNPs revealed that rs7607888 (P = 2.03 × 10-7), rs55981318 (P = 0.018), and rs1136545 (P = 1.93 × 10-9) were also associated with T1D. Haplotype analysis showed association for rs55981318-rs10186193 (P = 0.0005), rs7563960-rs7607888 (P = 0.0007), rs7607888-rs1136545 (P = 9.21 × 10-10), and rs1136545-rs11538545 (P = 6.67 × 10-8). In contrast, the new set of 97 familial trios tested for SNPs rs55981318, rs10186193, and rs7607888 did not support the previous finding; however, by combining the sample (197 trios), evidence of association of T1D with rs55981318 and rs7607888 was conclusive. In addition, a two-loci haplotype analysis of the combined sample showed significant association of RNASEH1 with T1D (P = 3.1 × 10-5). CONCLUSION: In conclusion, our analyses suggest that RNASEH1 gene variants associate with susceptibility/protection to T1D in Colombia.

Evolución clínica de pacientes con loxoscelismo sistémico y dermonecrótico en un hospital de tercer nivel / Clinical evolution of patients with systemic and dermonecrotic loxoscelism in a third level hospital

Resumen ANTECEDENTES: el loxoscelismo es una intoxicación por la mordedura de la araña Loxosceles reclusa, cuyo veneno contiene esfingomielinasa-D, causante de hemólisis y necrosis. Se reporta una serie de casos que describen su evolución clínica y respuesta al tratamiento. OBJETIVO: describir la evolución y características clínicas de pacientes con loxoscelismo sistémico y dermonecrótico, su respuesta al tratamiento y las complicaciones. PACIENTES Y MÉTODO: estudio que incluyó el análisis descriptivo de pacientes tratados en el servicio de Medicina Interna, Unidad Médica de Alta Especialidad Dr. Antonio Fraga Mouret, Centro Médico Nacional La Raza, de 2010 a 2015. RESULTADOS: se atendieron ocho hombres (67%) y cuatro mujeres (33%), con edad media de 39.4 años (16-83 años). El sitio de mordedura en cinco casos (42%) fue el miembro pélvico izquierdo; cuatro casos en el miembro torácico derecho (33%), dos en la cara (17%) y uno en el miembro torácico izquierdo (9%). Nueve casos provenían del Estado de México, dos de la Ciudad de México y uno de Hidalgo. Manifestación clínica: flictenas (cinco casos), edema y eritema (tres), placa liveloide (tres) y necrosis (un caso). Nueve (75%) pacientes se trataron inicialmente en la unidad de cuidados intensivos. Se reportaron las siguientes complicaciones sistémicas: renales (67%), pulmonares con administración de aminas (33%) y hematológicas (8%). Diez casos recibieron faboterápico, con media de 1.5 viales (0 a 4); cinco casos (42%) recibieron dapsona y cuatro de ellos (33%) padecieron metahemoglobinemia; once (92%) pacientes requirieron lavado-desbridación y 7 (58%) injerto cutáneo; cuatro pacientes (33%) tuvieron infección agregada de la herida. El promedio de estancia hospitalaria fue 16.2 días (3 a 40 días). CONCLUSIÓN: la evolución y pronóstico de esta afección depende de una sospecha inicial, diagnóstico y tratamiento oportunos. El loxoscelismo debe incluirse en los diagnósticos diferenciales de lesiones necróticas y progresivas, con o sin afección sistémica.

Abstract BACKGROUND: Loxoscelism is a poisoning caused by the bite of Loxosceles recluse spider, whose venom contains sphingomyelinaseD, causing hemolysis and necrosis. We report a case series describing their clinical course and response to treatment. OBJECTIVE: To describe the evolution and clinical characteristics of patients with systemic and dermonecrotic loxoscelism, their response to treatment and complications. PATIENTS AND METHOD: A descriptive analysis of patients treated in the Internal Medicine Service, Centro Médico Nacional La Raza, from 2010 to 2015. RESULTS: A total of 8 men (67%) and 4 women (33%) were included. Mean age was 39.4 years (16-83 years). Bite site was left pelvic limb in 5 cases (42%), 4 in the right forelimb (33%), 2 in the face (17%) and 1 in left forelimb (9%). Nine cases came from Estado de México, 2 from Mexico City and 1 from Hidalgo. Initial manifestations included blisters (five cases), edema and erythema (three cases), liveloide plate (three cases) and necrosis (one case). Nine (75%) patients were initially managed in ICU. Systemic complications were renal (67%), lung with use of amines (33%) and hematological (8%). Ten cases were treated with fabotherapy, with an average of 1.5 vials (0-4). Five cases (42%) received dapsone and 4 of them (33%) developed methemoglobinemia. Eleven (92%) required surgical washing and debridement and 7 (58%) skin graft; four patients (33%) had secondary wound infection. Average hospital stay was 16.2 days (3-40 days). CONCLUSIONS: The evolution and prognosis depends on initial suspicion early diagnosis and treatment. Loxoscelism should be included in the differential diagnosis of progressive necrotic lesions, with or without systemic involvement.

Mixofibrosarcoma de bajo grado de la pared torácica / A low-grade myxofibrosarcoma of the chest wall

El mixofibrosarcoma es una neoplasia maligna infrecuente, que puede originarse en los tejidos blandos, se lo ha estadificado como de alto o bajo grado y la localización más frecuente son los miembros inferiores. El reconocimiento clínico del mismo es dificultoso, en primer lugar porque la clínica de otros sarcomas de partes blandas es similar y además semejan lipomas o aún quistes. La extirpación quirúrgica amplia es el tratamiento de elección, por la propensión de este sarcoma a la recidiva local. Los catalogados como de alto grado en un 30 % de los casos, pueden originar metástasis a distancia, especialmente a hueso, pulmón y ganglios linfáticos. La histopatología asegura el diagnóstico en la mayoría de los casos. Comunicamos el caso de un mixofibrosarcoma de bajo grado, en un hombre de 43 años, que a los tres años de control evolutivo, luego de la resección quirúrgica, no presenta recaída local ni distante.

Myxofibrosarcoma is an uncommon soft tissue sarcoma that is grading as low or high malignancy. The principal sites of involvement are the lower limbs. Clinical recognition is difficult since it resembles a cyst, a lipoma, other soft tissue sarcoma or even benign conditions as panniculitis. The wide surgical excision is the main therapeutic approach because local recurrence is frequent. The high grade variant is associated in 30 % of the cases with distant metastasis, especially to the lung, bone and lymph nodes. The histopathological features allow an accurate diagnosis in most cases. A 43 year-old man with a myxofibrosarcoma of the chest wall is reported with a follow-up of two years without recurrence.

Trasplante de cabello en el liquen plano pilar / Hair transplant in lichen planopilaris

El liquen plano pilar es una variante clínica del liquen plano, que afecta al cuero cabelludo donde su estadio final provoca una alopecia cicatrizal, que se acompaña en general, de un gran impacto negativo en la calidad de vida del enfermo. Hasta la fecha existe una gran escasez de estudios publicados, que informen tratamientos quirúrgicos. OBJETIVO: se evalúa la eficacia del trasplante de cabello bajo la técnica FUE (extracción de unidades foliculares) y determinar directrices para óptimos resultados. MATERIAL Y MÉTODO: se presenta una mujer con LPP de siete años de evolución. Después de una biopsia de cuero cabelludo y una sesión terapéutica, se procedió a un trasplante. Fueron realizados controles fotográficos a los dos, cuatro y seis meses para determinar éxito-fracaso. RESULTADO: se observó un crecimiento de cabello a partir de los 2-3 meses, sin cicatrices visibles en el área donante. CONCLUSIÓN: la técnica FUE es un proceso bien tolerado y seguro para mejorar la pérdida de cabello en un LPP, que histológicamente muestra una falta de inflamación (estadio cicatrizal). Esta técnica merece en nuestra opinión, más estudios a futuro.

BACKGROUND: lichen planopilar is a clinical variant of lichen planus, which affects the scalp and in the final stage which causes scarring alopecia, entailing a significant impact on quality of life. To date no shortage of published studies reporting surgical treatments. OBJECTIVE: effectiveness on hair transplant FUE technique and determine guidelines for optimum results is evaluated. MATERIAL AND METHOD: a woman with LLP seven years of evolution is presented. After scalp biopsy and a therapeutic meeting, he underwent a transplant. Photographic controls the 2.4 and six months were performed to determine success. RESULT: hair growth was observed after 2-3 months without visible scars in the donor area. CONCLUSION: technique FUE was a well tolerated and safe process to improve hair loss in LPP histologically shows a lack of inflammation (scarring stage).

Common polygenic variation contributes to risk of migraine in the Norfolk Island population.

Migraine has been defined as a common disabling primary headache disorder. Epidemiology studies have provided with the undeniable evidence of genetic components as active players in the development of the disease under a polygenic model in which multiple risk alleles exert modest individual effects. Our objective was to test the contribution of a polygenic effect to migraine risk in the Norfolk Island population using a panel of SNPs reported to be disease associated in published migraine GWAS. We also investigated whether individual SNPs were associated with gene expression levels measured in whole blood. Polygenic scores were calculated in a total of 285 related individuals (74 cases, 211 controls) from the Norfolk Island using 51 SNPs previously reported to be associated with migraine in published GWAS. The association between polygenic score and migraine case-control status was tested using logistic regression. Results indicate that a migraine polygenic risk score was associated with migraine case-control status in this population (P = 0.016). This supports the hypothesis that multiple SNPs with weak effects collectively contribute to migraine risk in this population. Amongst the SNPs included in the polygenic model, four were associated with the expression of the USMG5 gene, including rs171251 (P = 0.012). Results from this study provide evidence for a polygenic contribution to migraine risk in an isolated population and highlight specific SNPs that regulate the expression of USMG5, a gene critical for mitochondrial function.

Fomentando la resiliencia en las familias con enfermedad mental parental: los talleres Kidstime / Encouraging resilience in families with parental mental illness: KidsTime workshops / Fomentant la resiliència en famìlies amb malaltia mental parental: els tallers Kidstime

Tener un progenitor con enfermedad mental aumenta el riesgo de presentar problemas sociales y de conducta en la infancia y de salud mental en la adolescencia. A menudo estos niños y niñas presentan estrés asociado con el hecho de tener que asumir el rol de cuidador de sus padres. Es frecuente que estas familias no pidan ayuda por temor, culpa o estigma ante la enfermedad mental. En el presente artículo describimos un programa de intervención multifamiliar Kidstime que busca desarrollar y fomentar actitudes resilientes en toda la familia, especialmente en los hijos e hijas de padres y madres que sufren un trastorno mental grave, con el objetivo de prevenir posibles trastornos entre la población infantil de este grupo de rie Resultados de la psicoterapia psicoanalítica infanto-juvenil focal en una unidad de tratamientos especializados en la red pública de salud mental

Having a parent with mental illness increases the risk for social and behavioral problems in childhood and adolescent mental health. Often these children have stress associated with having to assume the role of caregiver of their parents. Often these families don’t ask for due to fear, guilt and the stigma against mental illness. In this article we describe a Kidstime multifamily intervention program that tries to develop and promote resilient attitudes in the family, especially with the children of parents who suffer from a serious mental disorder, in order to avoid possible disorders among children in this at-risk group (AU)

Fomentant la resiliència en famílies amb malaltia mental parental: els tallers Kidstime. Tenir un progenitor amb malaltia mental augmenta el risc de presentar problemes socials i de conducta a la infància i de salut mental a l’adolescència. Sovint, aquests nens i nenes presenten estrès associat pel fet d’haver d’assumir el rol de cuidador dels seus pares. És freqüent que aquestes famílies no demanin ajuda per temor, culpa o estigma davant la malaltia mental. En el present article descrivim un programa d’intervenció multifamiliar Kidstime que busca desenvolupar i fomentar actituds resilients en tota la família, especialment en els fills i filles de pares i mares que pateixen un trastorn mental greu, amb l’objectiu de prevenir possibles trastorns entre la població infantil d’aquest grup de risc