MicroRNA Dysregulation in Early Breast Cancer Diagnosis: A Systematic Review and Meta-Analysis.

Breast cancer continues to be the leading cause of death in women worldwide. Mammography, which is the current gold standard technique used to diagnose it, presents strong limitations in early ages where breast cancer is much more aggressive and fatal. MiRNAs present in numerous body fluids might represent a new line of research in breast cancer biomarkers, especially oncomiRNAs, known to play an important role in the suppression and development of neoplasms. The aim of this systematic review and meta-analysis was to evaluate dysregulated miRNA biomarkers and their diagnostic accuracy in breast cancer. Two independent researchers reviewed the included studies according to the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines. A protocol for this review was registered in PROSPERO with the registration number "CRD42021256338". Observational case-control-based studies analyzing concentrations of microRNAs which have been published within the last 10 years were selected, and the concentrations of miRNAs in women with breast cancer and healthy controls were analyzed. Random-effects meta-analyses of miR-155 were performed on the studies which provided enough data to calculate diagnostic odds ratios. We determined that 34 microRNAs were substantially dysregulated and could be considered biomarkers of breast cancer. Individually, miR-155 provided better diagnostic results than mammography on average. However, when several miRNAs are used to screen, forming a panel, sensitivity and specificity rates improve, and they can be associated with classic biomarkers such us CA-125 or CEA. Based on the results of our meta-analysis, miR-155 might be a promising diagnostic biomarker for this patient population.

Alteraciones y efectos del sueño durante el embarazo / Sleep disorders during pregnancy

INTRODUCCIÓN: El embarazo es un proceso fisiológico que produce alteraciones en los patrones del sueño. A nivel fisiológico la falta de sueño se relaciona con problemas de salud tales como hipertensión, enfermedad coronaria, diabetes y depresión. En el embarazo, las alteraciones del sueño son más frecuentes siendo su prevalencia mayor durante el tercer trimestre. La deprivación del mismo durante el embarazo empeora significantemente las condiciones preexistentes de la mujer disminuyendo la actividad física diaria, la productividad y aumentando los síntomas relacionados con el estrés. Las alteraciones del sueño en el embarazo se pueden relacionar con comorbilidad en el recién nacido y resultados adversos materno-fetales. OBJETIVOS: Determinar qué alteraciones del sueño ocurren durante el embarazo, cuáles son sus causas y qué posibles consecuencias podría tener el déficit de sueño durante la gestación a nivel materno-fetal y neonatal. METODOLOGÍA: Se llevó a cabo una revisión sistemática siguiendo los principios de la declaración PRISMA. Se recogieron tanto estudios observacionales como de intervención así como revisiones sistemáticas y meta-análisis y se llevó a cabo un análisis crítico de los resultados. RESULTADOS Y DISCUSIÓN: Se incluyeron finalmente un total de 19 artículos que trataban sobre los efectos de las alteraciones del sueño en los resultados materno-fetales y neonatales y sus causas. Las principales causas de las alteraciones del sueño son los cambios hormonales y fisiológicos propios del embarazo como es el aumento de peso que se hacen más prevalentes conforme progresa la gestación. Las consecuencias maternas engloban principalmente trastornos respiratorios, alteraciones cardiovasculares e inflamatorias y resultados adversos del embarazo como es la cesárea. Los resultados adversos en el recién nacido más estudiados son partos prematuros y recién nacidos con bajo peso para la edad gestacional. CONCLUSIÓN: Con este trabajo se observa que existe una relación entre los trastornos del sueño durante el embarazo y los problemas materno-fetales. Sin embargo, los estudios llevados a cabo hasta la fecha son heterogéneos, emplean herramientas subjetivas y sus conclusiones resultan en ocasiones contradictorias

INTRODUCTION: Pregnancy is a physiologic stage of the women that modifies sleep patterns. Sleep deprivation is associated with pathologies namely hypertensive disorders, coronary artery disease, diabetes and depression. Amongst pregnant women sleep disorders are more frequent being its prevalence higher during the third trimester of gestation. Furthermore, sleep deprivation worsens previous conditions such as low degree of physical activity, productivity and increases stress-related symptoms. Sleep disorders could be associated with comorbidities in the newborn as well as pregnancy/perinatal adverse outcomes. OBJECTIVES: To determine which sleep disorders are associated with pregnancy, their causes and the potential effects that sleep deprivation could exert on pregnancy outcomes and the newborn. METHODOLOGY: We conducted a systematic review following the PRISMA statement. Observational, interventional and systematic reviews/meta-analyses were included and a critical analysis of the results was performed. RESULTS AND DISCUSSION: 19 papers about sleep disorders and pregnancy/perinatal outcomes were finally included. Mains causes of sleep disorders during pregnancy consisted of hormonal changes and weight gain which are more prevalent as gestation progresses. Maternal outcomes associated to sleep disorders comprised respiratory, cardiovascular and inflammatory disorders along with pregnancy adverse outcomes namely caesarean section. Main perinatal adverse outcomes were preterm delivery and small for gestational age. CONCLUSION: We observed an association between sleep disorders during gestation, pregnancy and perinatal adverse outcomes. However, studies conducted to date are heterogeneous and they tend to use subjective tools to assess sleep patterns being results occasionally inconclusive or contradictory

Childhood Obesity and its Influence on Sleep Disorders: Kids-Play Study.

Background: Sleep disorders are associated with overweight and obese children, and could decrease life quality with limitations to normal daily activities. The purpose of the study is to describe the prevalence of sleep disorders in a cohort of overweight/obese children using respiratory polygraphy. Methods: A descriptive cross-sectional study was conducted in Granada (Spain) on a sample of 98 children with overweight or obesity. The presence of sleep disorders was determined by respiratory polygraphy. Results: Regarding apnoea-hypopnea-index (AHI) results, 44% of affected children had severe sleep apnoea-hypopnea syndrome (SAHS), and the remaining 56% had a mild form of the disorder. With respect to oxygen-desaturation index, 56% of the same group had severe SAHS, 32% had mild SAHS, and the remaining 12% did not suffer from SAHS. Among participants, average scores of 13.8 obstructive apnoea, 7.7 central apnoea, and 13.6 hypopnoea were recorded. Conclusions: Respiratory polygraphy can provide conclusive results in the diagnosis of SAHS in overweight/obese children. Interventional programmes designed and implemented to reduce overweight and obesity can improve quality of sleep and life in children.

Influence of a Water-Based Exercise Program in the Rate of Spontaneous Birth: A Randomized Clinical Trial.

Introduction: Many women change their lifestyles and habits when they become pregnant, to avoid potentially harmful effects to themselves and their babies. This is especially so with respect to physical exercise, which is often greatly reduced due to ignorance of the benefits it provides during pregnancy. Aim: To evaluate the prevalence of spontaneous birth among women who participated in a water-based physical exercise program. Methods: A randomized clinical trial was conducted with a sample of 129 pregnant women (Control Group, CG = 64; Exercise Group, EG = 65). A physical exercise protocol, specifically designed for pregnant women, was created and applied. Those in the EG performed 60 min exercise sessions, three times per week for 17 weeks. The participants in the CG received routine check-ups and advice throughout their pregnancy. Findings: The women in the EG presented better results for the onset of spontaneous birth (OR = 2.060 (0.980-4.332)) and for neonate Apgar score of 10 at five minutes (OR = 8.53 (3.60-20.17)). Those who had normal weight at the start of pregnancy achieved better results for spontaneous delivery (OR = 2.099 (1.017-4.335)) than those with overweight/obesity. The rate of caesarean delivery was higher in the women with overweight/obesity (OR = 3.570 ((1.226-10.397)) than in those with normal weight. Conclusions: In our study, the women who followed the water-based exercise program gained less weight during pregnancy, which facilitated a better rate of spontaneous, non-instrumental childbirth, together with a better Apgar test score at five minutes.

The Evolution of Consanguineous Marriages in the Archdiocese of Granada, Spain (1900-1979).

In the 20th century Spain maintained some of the highest rates of consanguineous marriage in Europe. In many regions these rates were still high in the 1950s and 1960s but then decreased rapidly, and by the 1970s a generalized transformation in mating patterns was under way. In the following decades the marriage of persons closely related by birth became rare. Consanguinity and inbreeding have been much studied in Spain but almost exclusively in the central and northern regions of the country. This is the first study of a whole large diocese in the southern region of Andalusia. This article is based on the analysis of 15,440 records of consanguineous unions registered between 1900 and 1979 in the Archbishopric of Granada in Andalusia. In this period, the rate of consanguinity up to second cousins was 5.51%, and the mean coefficient of inbreeding, α, was 2.04 × 10-3. There is a high range of variability within the research area: the rate of consanguinity was more than three times higher in rural areas (6.74%; α = 2.44 × 10-3) than in the capital city (2.03%; α = 0.93 × 10-3). There was a high frequency of unions between first cousins and first cousins once removed. These amounted to 35.3% and 13% of all consanguineous marriages, respectively, and contributed to 70% of α-values. Consanguinity here has been strongly related to local endogamy. Thus, 76% of all consanguineous couples were born in the same locality, and 89% resided in the same locality at marriage. By the end of the 1960s premarital migration increased and local endogamy started to decrease. On the other hand, inbreeding is inversely related to spatial endogamy. The more inbred couples, such as uncles-nieces (C12) or first cousins (C22), show significantly higher exogamy rates than second cousins (C33) and third cousins (C44), and higher rates of premarital migration. Neither males nor females in intrafamily unions seem to be significantly younger than those in nonconsanguineous unions. Considering their temporal evolution, consanguinity rates increased in the first third of the century, reaching a maximum in the late 1920s, when over 7.4% of all marriages were consanguineous (8.3% for the rural areas), and the resulting α-value was the highest of the century (α = 2.71 × 10-3 for the whole diocese; α = 3.00 × 10-3 for the rural areas). Rates of inbreeding remained high until the 1950s and decreased thereafter in a period of accelerated emigration to cities, urbanization, industrialization, and social modernization. Overall, levels of inbreeding are similar and sometimes larger than those found in dioceses in the northwest of Spain, although marriages between uncle and niece were less common. Some of the counties in the diocese had very high consanguinity levels, not only the isolated area of La Alpujarra, previously studied, but also other ecological and historical microregions (comarcas). These results indicate that the widely accepted north-south divisions of the Iberian Peninsula in terms of consanguinity and inbreeding patterns require considerable reevaluation.

Estudio de la braquidactilia en población gitana: descripción de un caso familiar / Estudo da braquidactilia da população cigana: Descrição de um caso familiar / Study of brachydactyly in gipsy population: Description of a familial case

La braquidactilia constituye una malformación genética heredable con carácter autosómico dominante o recesivo. En este artículo se describe el caso de una familia gitana que presentabraquidactlia congénita. El estudio se hizo en el Distrito Sanitario de Guadix en Granada. Los sujetos de estudio fueron cuatro hermanos (dos hombres y dos mujeres) integrantes de la misma unidad familiar y pertenecientes a la comunidad gitana. Se recogieron datos sociodemográficos y genéticos. Los sujetos presentan la manifestación de braquidactilia expresada fenotípicamente con alguna variabilidad entre ellos. Los datos radiológicos evidencian que corresponden a la braquidactilia tipo A4. Uno de ellos presenta una mezcla de A4 con E, o quizás se trate de una nueva variedad no clasificada. Todos presentan anomalías similares en los pies. Además, presentan obesidad, dislipidemia y diversos grados de consanguinidad...

Brachydactyly is an inheritable autosomal genetic malformation, either dominant or recessive. This article describes a gypsy family presenting with congenital brachydactyly. The study was conducted at the Sanitary District of Guadix, in Granada, Spain. The study subjects were four siblings (two women and two men), members of the same family and belonging to the Roma community. Demographic and genetic data were collected. With some variability, they had the phenotypic manifestation of brachydactyly. Radiographic data revealed that it was type A4 brachydactyly, but one of them featured a blend of A4 with E, or perhaps it is a new unclassified variety. All cases showed similar abnormalities in the feet. Besides, they are obese, and have dyslipidemia and different degrees of consanguinity...

A braquidactilia constitui uma malformação genética com caráter autossômico dominante ou recessiva. Este artigo descreve o caso de uma família cigana que apresenta braquidactlia congênitas. O estudo foi feito no Distrito de Sanitário de Guadix em Granada. Os sujeitos do estudo foram quatro irmãos (dois homens e duas mulheres) membros da mesma unidade familiar e pertencentes à comunidade cigana. Foram coletados dados demográficos e genéticos. Os sujeitos apresentam a manifestação de braquidactilia expressa fenotipicamente com alguma variabilidade entre eles. Os elementos radiológicos mostram que correspondem à braquidactilia tipo A4. Um deles apresenta uma mistura de A4, com E, ou, talvez, uma nova variedade não classificadas. Todos têm anomalias semelhantes nos pés. Ademais, apresentam obesidade, dislipidemia e diferentes graus de consanguinidade...

[Assessment of nutritional status in renal transplant patients during 5 years of follow-up]. / Evaluación del estado nutricional en pacientes trasplantados renales durante 5 años de seguimiento.

INTRODUCTION: Weight gain and malnutrition after kidney transplantation is common and the resulting overweight and obesity is associated with serious health complications. By contrast, the prevalence of malnutrition in patients with renal transplantation and its impact on the outcome of kidney transplantation is underestimated. OBJECTIVES: The aim of this study was to evaluate the nutritional status of renal transplant patients and determine if the five-year follow-up, these patients undergo alterations that suggest nutritional deterioration. METHODS: The sample consisted of 119 renal transplant patients who attended for five years post-transplant consultation. All patients measurements of total cholesterol, low density lipoprotein (LDL), high density lipoprotein (HDL), triglycerides and ferritin (Ft) were performed. and anthropometric measurements were made of weight, height and BMI. Patients were divided into three groups according to GFR Group 1: <60 mL/min, Group 2: 89-60 mL/min Group 3: ≥ 90 mL/min. RESULTS: The weight and BMI tended to decrease in group 3 while increasing in the other groups. A decrease in total cholesterol, HDL, LDL, Triglycerides and Ferritin less pronounced in group 3 occurs. CONCLUSIONS: After five years you can see a significant reduction in nutritional biochemical parameters in general, likewise the nutritional status is closely related, and is directly proportional to the function of the graft.

Introducción: El aumento de peso y la malnutricion despues del trasplante renal es frecuente, y el sobrepeso y la obesidad resultante se asocia con complicaciones graves de salud. Por el contrario, la prevalencia de la desnutricion en pacientes con trasplante renal y sus efectos en el resultado del trasplante de rinon se subestima. Objetivos: El objetivo de este trabajo fue evaluar el estado nutricional de pacientes trasplantados renales y determinar si en el periodo de cinco anos de seguimiento, estos pacientes sufren alteraciones que sugieran deterioro nutricional. Métodos: La muestras estuvo formada por 119 pacientes trasplantados renales, que asistieron durante cinco anos a la consulta postrasplante. A todos los pacientes se realizaron determinaciones de colesterol total, lipoproteinas de baja densidad (LDL), lipoproteinas de alta densidad (HDL), concentraciones de trigliceridos y ferritina (Ft), y se les efectuaron mediciones antropometricas de peso, altura e IMC. Los pacientes fueron divididos en tres grupos segun la tasa de filtracion glomerular : Grupo 1: < 60 mL/min, Grupo 2: 89­60 mL/min Grupo 3: ≥ 90 mL/min. Resultados: El peso e IMC tiende a disminuir en el grupo 3 mientras aumenta en el resto de grupos. Se produce una disminucion de Colesterol total, HDL, LDL, Trigliceridos y Ferritina menos acusado en el grupo 3. Conclusiones: Tras cinco anos se puede observar una reduccion significativa de los parametros bioquimicos nutricionales en general, asi mismo el estado nutricional esta estrechamente relacionado y es directamente proporcional a la funcion del injerto.

Evaluación del estado nutricional en pacientes trasplantados renales durante 5 años de seguimiento / Assessment of nutritional status in renal transplant patients during 5 years of follow-up

Introducción: El aumento de peso y la malnutrición después del trasplante renal es frecuente, y el sobrepeso y la obesidad resultante se asocia con complicaciones graves de salud. Por el contrario, la prevalencia de la desnutrición en pacientes con trasplante renal y sus efectos en el resultado del trasplante de riñón se subestima. Objetivos: El objetivo de este trabajo fue evaluar el estado nutricional de pacientes trasplantados renales y determinar si en el periodo de cinco años de seguimiento, estos pacientes sufren alteraciones que sugieran deterioro nutricional. Métodos: La muestras estuvo formada por 119 pacientes trasplantados renales, que asistieron durante cinco años a la consulta postrasplante. A todos los pacientes se realizaron determinaciones de colesterol total, lipoproteí- nas de baja densidad (LDL), lipoproteínas de alta densidad (HDL), concentraciones de triglicéridos y ferritina (Ft), y se les efectuaron mediciones antropométricas de peso, altura e IMC. Los pacientes fueron divididos en tres grupos según la tasa de filtración glomerular : Grupo 1: < 60 mL/min, Grupo 2: 89-60 mL/min Grupo 3: ≥ 90 mL/min. Resultados: El peso e IMC tiende a disminuir en el grupo 3 mientras aumenta en el resto de grupos. Se produce una disminución de Colesterol total, HDL, LDL, Trigliceridos y Ferritina menos acusado en el grupo 3. Conclusiones: Tras cinco años se puede observar una reducción significativa de los parametros bioquímicos nutricionales en general, así mismo el estado nutricional esta estrechamente relacionado y es directamente proporcional a la función del injerto (AU)

ntroduction: Weight gain and malnutrition after kidney transplantation is common and the resulting overweight and obesity is associated with serious health complications. By contrast, the prevalence of malnutrition in patients with renal transplantation and its impact on the outcome of kidney transplantation is underestimated. Objectives: The aim of this study was to evaluate the nutritional status of renal transplant patients and determine if the five-year follow-up, these patients undergo alterations that suggest nutritional deterioration. Methods: The sample consisted of 119 renal transplant patients who attended for five years post-transplant consultation. All patients measurements of total cholesterol, low density lipoprotein (LDL), high density lipoprotein (HDL), triglycerides and ferritin (Ft) were performed. and anthropometric measurements were made of weight, height and BMI. Patients were divided into three groups according to GFR Group 1: <60 mL / min, Group 2: 89- 60 mL / min Group 3: ≥ 90 mL / min. Results: The weight and BMI tended to decrease in group 3 while increasing in the other groups. A decrease in total cholesterol, HDL, LDL, Triglycerides and Ferritin less pronounced in group 3 occurs. Conclusions: After five years you can see a significant reduction in nutritional biochemical parameters in general, likewise the nutritional status is closely related, and is directly proportional to the function of the graft (AU)

Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or Calé--a study of 83 cases.

This paper studies 83 cases of oculocutaneous albinism (OCA) in family networks of Gitanos in southeastern Spain, and analyzes their sustained inbreeding patterns and complex genealogical relationships. It is based in the family and genealogy reconstitution of the Gitano population of 22 contiguous localities using ethnographic and historical demography methods. The study found a prevalence of OCA among Gitanos in the area of about 1: 1,200. Most of the cases belong to three extended kin networks in which consanguineous marriages have been common for generations. In these networks there are other cases of visual and auditive congenital anomalies, and other birth defects such as brachydactily, polydactily, neurological defects, Potter Sequence, etc. In 61 OCA cases it was possible to trace inbreeding links with a depth of three to nine generations. For these cases the estimated alpha (average of the inbreeding coefficient, F) is 0.0222. Relationships between the parents of people affected are of three types: close, as between first or second cousins; distant, as between third or fourth cousins, and non-existent, as in mixed marriages. In most cases, however, persons with albinism are linked by multiple consanguineous links. Albinism seems to be a visible example of a high prevalence of birth defects in this minority, associated with founder effects, sustained inbreeding and high fertility rates. These conditions derive from Gitano's marriage preferences and pronatalist strategies. In turn, these strategies have to be related to the exclusion, persecution and segregation that Spanish Gypsies have suffered for centuries.