Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 53
Filtrar
Más filtros

Tipo del documento
Intervalo de año de publicación
1.
BMC Womens Health ; 23(1): 387, 2023 07 24.
Artículo en Inglés | MEDLINE | ID: mdl-37482613

RESUMEN

BACKGROUND: Dyspareunia is defined as the occurrence of pain during or after sexual intercourse, which directly affects physical, sexual, and mental health. This condition can lead to depression, anxiety, and low self-esteem in women who experience it. OBJECTIVES: The aim of this research was to evaluate the effectiveness of physical therapy interventions for the treatment of female dyspareunia. DESIGN: A systematic review and meta-analysis was conducted. METHOD: Search of publications was conducted in Scopus, Medline, Pubmed, Cinahl and Web of Science. Treatment effects were defined as standardized mean difference and their 95% confidence intervals. Statistical heterogeneity was assessed using Crohan's Q test and quantified using the I2 index. RESULTS: Of the 19 articles selected, six applied multimodal physiotherapy treatments; five, electrotherapy; three, Thiele's massage; two, interdisciplinary interventions or pelvic floor muscle training; and one, extracorporeal shockwave therapy. The meta-analysis showed significant results for the variables pain and quality of life with the interventions based on electrotherapy and electrotherapy combined with pelvic floor muscle training. These interventions did not show significant results for the improvement of sexual function. CONCLUSIONS: Physiotherapy techniques are effective and procedures have been identified with reliable results in improving pain and quality of life in patients with dyspareunia. One of the most important aspects is the strengthening of the perineal musculature and the application of Transcutaneous Electrical Nerve Stimulation. Furthermore, manual trigger point release therapy and Thiele massage, optimize and guarantee the reduction of pain intensity. PROSPERO REGISTRATION: CRD42021236155.


Asunto(s)
Dispareunia , Estimulación Eléctrica Transcutánea del Nervio , Humanos , Femenino , Dispareunia/terapia , Calidad de Vida , Modalidades de Fisioterapia , Dolor
2.
Soc Networks ; 73: 80-88, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36628334

RESUMEN

University students have changed their behaviour due to the COVID-19 pandemic. In this paper, we describe the characteristics of PCR+ and PCR- nodes, analyse the structure, and relate the structure of student leaders to pandemic contagion as determined by PCR+ in 93 residential university students. Leadership comes from the male students of social science degrees who have PCR +, with an eigenvector centrality structure, ß-centrality, and who are part of the bow-tie structure. There was a significant difference in ß-centrality between leaders and non-leaders and in ß-centrality between PCR+ and non-leaders. Leading nodes were part of the bow-tie structure. MR-QAP results show how residence and scientific branch were the most important factors in network formation. Therefore, university leaders should consider influential leaders, as they are vectors for disseminating both positive and negative outcomes.

3.
Hum Mutat ; 41(1): 265-276, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31549748

RESUMEN

Postaxial polydactyly (PAP) is a frequent limb malformation consisting in the duplication of the fifth digit of the hand or foot. Morphologically, this condition is divided into type A and B, with PAP-B corresponding to a more rudimentary extra-digit. Recently, biallelic truncating variants in the transcription factor GLI1 were reported to be associated with a recessive disorder, which in addition to PAP-A, may include syndromic features. Moreover, two heterozygous subjects carrying only one inactive copy of GLI1 were also identified with PAP. Herein, we aimed to determine the level of involvement of GLI1 in isolated PAP, a condition previously established to be autosomal dominantly inherited with incomplete penetrance. We analyzed the coding region of GLI1 in 95 independent probands with nonsyndromic PAP and found 11.57% of these subjects with single heterozygous pathogenic variants in this gene. The detected variants lead to premature termination codons or result in amino acid changes in the DNA-binding domain of GLI1 that diminish its transactivation activity. Family segregation analysis of these variants was consistent with dominant inheritance with incomplete penetrance. We conclude that heterozygous changes in GLI1 underlie a significant proportion of sporadic or familial cases of isolated PAP-A/B.


Asunto(s)
Dedos/anomalías , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Variación Genética , Heterocigoto , Polidactilia/diagnóstico , Polidactilia/genética , Dedos del Pie/anomalías , Proteína con Dedos de Zinc GLI1/genética , Alelos , Sustitución de Aminoácidos , Femenino , Fibroblastos , Expresión Génica , Genes Dominantes , Genes Reporteros , Estudios de Asociación Genética/métodos , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN
4.
Am J Med Genet A ; 179(12): 2382-2392, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31566869

RESUMEN

The aim of the study is to determine the prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) and 18 (T18), by congenital anomaly register and region. Twenty-four population- and hospital-based birth defects surveillance registers from 18 countries, contributed data on T13 and T18 between 1974 and 2014 using a common data-reporting protocol. The mean total birth prevalence (i.e., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 was 1.68 (95% CI 1.3-2.06), and for T18 was 4.08 (95% CI 3.01-5.15), per 10,000 births. The prevalence varied among the various registers. The mean prevalence among LB in all registers for T13 was 0.55 (95%CI 0.38-0.72), and for T18 was 1.07 (95% CI 0.77-1.38), per 10,000 births. The median mortality in the first week of life was 48% for T13 and 42% for T18, across all registers, half of which occurred on the first day of life. Across 16 registers with complete 1-year follow-up, mortality in first year of life was 87% for T13 and 88% for T18. This study provides an international perspective on prevalence and mortality of T13 and T18. Overall outcomes and survival among LB were poor with about half of live born infants not surviving first week of life; nevertheless about 10% survived the first year of life. Prevalence and outcomes varied by country and termination policies. The study highlights the variation in screening, data collection, and reporting practices for these conditions.


Asunto(s)
Síndrome de la Trisomía 13/epidemiología , Síndrome de la Trisomía 18/epidemiología , Femenino , Humanos , Nacimiento Vivo , Mortalidad , Vigilancia de la Población , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Prevalencia , Sistema de Registros , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 13/mortalidad , Síndrome de la Trisomía 18/genética , Síndrome de la Trisomía 18/mortalidad
5.
Aten Primaria ; 49(9): 525-533, 2017 Nov.
Artículo en Español | MEDLINE | ID: mdl-28501394

RESUMEN

OBJECTIVE: To determine the changes in hazardous drinking in adolescents in the last decade, as well as their motivations and experiences. DESIGN: Firstly, a descriptive design using a self-report questionnaire, and secondly an explanatory qualitative design, with video recordings of discussion groups with content analysis (coding, triangulation of categories and verification of results). SETTING AND PARTICIPANTS: Pupils from an urban High School, administering a questionnaire every 3 years from 2004 to 2013. Purposive sampling was used to elect groups in qualitative design. Homogeneity criteria: education level; heterogeneity criteria: age, gender, and drug use. MAIN MEASUREMENTS: Questionnaire: age, gender, drug use, and the CAGE test. Interviews: semi-structured on a previous script, evaluating experiences and expectations. RESULTS: Descriptive design: A total of 1,558 questionnaires, age 14.2±0.3years, 50% female. The prevalence of alcohol drinking decreases (13%), but its hazardous use increases (11%; P<.001, χ2). This is associated with being female (P<.01 χ2), higher alcohol consumption (>6 standard drink units weekly; P<.001, ANOVA), during the weekend (56%; P<.01, χ2) and multiple drug use (P<.01, χ2). CAGE questionnaire: 37% ≥1positive response (related to hazardous drinking, P<.05 χ2), 18% ≥2answers. QUALITATIVE: A total of 48 respondents, classified into 4 categories: personal factors (age, gender), social influences (family, friends), consumption standards (accessibility, nightlife), and addiction (risk, multiple drug use). CONCLUSION: Despite the decrease in the prevalence of alcohol drinking, the increase in the percentage of the hazardous drinking is a public health problem. It is related to being female, binge-drinking, and multiple drug use. Nightlife and social standards are the main reasons given by adolescents, who have no perception of risk.


Asunto(s)
Conducta del Adolescente , Consumo de Bebidas Alcohólicas/epidemiología , Conductas de Riesgo para la Salud , Adolescente , Niño , Estudios Transversales , Estudios de Evaluación como Asunto , Femenino , Humanos , Masculino
6.
Int J Gynecol Cancer ; 26(6): 1162-8, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27327153

RESUMEN

OBJECTIVES: The aim of this study was to determine the long-term results of a 7-week schedule of external beam radiation therapy, high dose rate brachytherapy, and weekly cisplatin and paclitaxel in patients with locally advanced carcinoma of the cervix. METHODS: Thirty-seven patients with International Federation of Gynecology and Obstetrics stages IB2 to IVa cervical cancer were treated with 40 mg/m per week of intravenous cisplatin and 50 mg/m per week of intravenous paclitaxel combined with 45 Gy of pelvic external beam radiation therapy and 28 to 30 Gy of high dose rate brachytherapy. RESULTS: Sixteen patients (43.2%) were able to complete the 6 scheduled cycles of chemotherapy. The median number of weekly chemotherapy cycles administered was 5. Thirty-six (16.2%) of 222 cycles of chemotherapy were not given because of toxicity. The mean dose intensity of cisplatin was 29.6 mg/m per week (95% confidence interval, 27.0-32.1); that of paclitaxel was 40.0 mg/m per week (95% confidence interval, 36.9-43.1). Thirty-four patients (91.8%) completed the planned radiation course in less than 7 weeks. Median radiation treatment length was 43 days. After a median follow-up of 6 years, 7 patients (18.9%) experienced severe (RTOG grade 3 or higher) late toxicity. No fatal events were observed. Ten patients have failed, 1 locally and 9 at distant sites. The 14-year locoregional control rate was 96.7%, and the 14-year freedom from systemic failure rate was 64.6%. Fourteen-year actuarial disease-free survival and overall survival rates were 44.8% and 50%, respectively. CONCLUSIONS: This study demonstrates excellent very long-term results and tolerable toxicity although the target weekly dosage of cisplatin and paclitaxel needs to be adjusted in the majority of the patients.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Neoplasias del Cuello Uterino/tratamiento farmacológico , Neoplasias del Cuello Uterino/radioterapia , Adulto , Anciano , Braquiterapia , Quimioradioterapia , Cisplatino/administración & dosificación , Femenino , Humanos , Persona de Mediana Edad , Estadificación de Neoplasias , Paclitaxel/administración & dosificación , Neoplasias del Cuello Uterino/patología
7.
Am J Med Genet A ; 167A(9): 2034-41, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25899082

RESUMEN

We describe a patient with a 1.34 Mb microdeletion at chromosome band 17q22, which is also present in his affected mother. To better delineate this microdeletion syndrome, we compare the clinical and molecular characteristics of 10 previously reported cases and our patient. Of these, the present patient has the smallest deletion which includes five genes: MMD, TMEM100, PCTP, ANKFN1, and NOG. We compare the clinical manifestations described in relation to NOG, since this is the only gene whose loss is shared by our patient and the other eight patients. Previously, the clinical patterns associated with NOG mutations have been included under the general term "NOG-related symphalangism spectrum disorder (NOG-SSD)." Based on our analyses, and considering that there is a clinical correlation observed in cases with a "17q22 microdeletion including NOG" of which the main characteristics can be contributed to loss of this gene, we propose that the clinical patterns observed in these patients should be named as NOG-spectrum disorder-contiguous gene syndrome (NOGSD-CGS). This designation is important for clinicians because when a patient has defects concordant with alterations of NOG but also presents other anomalies not related to this gene, they would be able to suspect the existence of a microdeletion affecting 17q22, therefore, allowing an early diagnosis. This will also enable the clinician to provide the family with adequate information about the prognosis and the risk of reoccurrence in future potential offspring.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 17/genética , Discapacidad Intelectual/genética , Adolescente , Deleción Cromosómica , Femenino , Eliminación de Gen , Humanos , Masculino , Síndrome
8.
Am J Med Genet A ; 167(6): 1243-51, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25899426

RESUMEN

Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the RAB3GAP1/2 genes, in the main exons of RAB18, nor in the TBC1D20 gene. However, the analysis with CGH-array detected a 9.6 Mb deletion at 1q43-qter. We performed a genotype-phenotype correlation using 20 previously published patients in whom the coordinates of the deleted regions were defined. The comparative analysis revealed that the current patient and three of the other 20 patients share the loss of six genes, four of which are related with the family of G proteins, and are strongly expressed in the brain, retina, heart and kidney. Consequently, their haploinsufficiency may result in different combinations of clinical alterations, including some of those of WARBM syndrome. In addition, the haploinsufficiency of other genes may contribute to other defects and clinical variability. Additionally, for the genotype-phenotype correlation, one must also consider molecular pathways that can result in the observed alterations. To early confirm a genetic diagnosis is essential for the patient and family. The current patient was considered as having a recessive syndrome, but since he had a "de novo" deletion, there was not an increased recurrence risk.


Asunto(s)
Anomalías Múltiples/genética , Catarata/congénito , Córnea/anomalías , Haploinsuficiencia , Hipogonadismo/genética , Discapacidad Intelectual/genética , Microcefalia/genética , Atrofia Óptica/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/patología , Proteínas Adaptadoras Transductoras de Señales/deficiencia , Proteínas Adaptadoras Transductoras de Señales/genética , Adolescente , Catarata/diagnóstico , Catarata/genética , Catarata/patología , Deleción Cromosómica , Cromosomas Humanos Par 1/genética , Hibridación Genómica Comparativa , Córnea/patología , Citocinas , Análisis Mutacional de ADN , Exones , Forminas , Estudios de Asociación Genética , Humanos , Hipogonadismo/diagnóstico , Hipogonadismo/patología , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/patología , Péptidos y Proteínas de Señalización Intercelular/deficiencia , Péptidos y Proteínas de Señalización Intercelular/genética , Masculino , Microcefalia/diagnóstico , Microcefalia/patología , Proteínas de Microfilamentos/deficiencia , Proteínas de Microfilamentos/genética , Proteínas Nucleares/deficiencia , Proteínas Nucleares/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/patología , Proteínas RGS/deficiencia , Proteínas RGS/genética , Receptor Muscarínico M3 , Receptores Muscarínicos/deficiencia , Receptores Muscarínicos/genética , Opsinas de Bastones/deficiencia , Opsinas de Bastones/genética
9.
Am J Hum Genet ; 89(2): 295-301, 2011 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-21802062

RESUMEN

We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip, down-turned corners of the mouth, micrognathia, low-set and prominent ears, and mild finger and toe anomalies (camptodactyly, syndactyly, and broadening of the first rays). Intellectual disability, hypotonia, decreased balance, sensorineural hearing loss, and unusual behavior were frequently observed. A high-resolution oligonucleotide array showed different proximal and distal breakpoints in all of the individuals. Sequencing studies in three of the individuals revealed that proximal and distal breakpoints were located in unique sequences with no apparent homology. The smallest region of overlap was a 539.7 kb interval encompassing three genes: a Zinc Finger Homeobox 4 (ZFHX4), one microRNA of unknown function, and one nonfunctional pseudogen. ZFHX4 encodes a transcription factor expressed in the adult human brain, skeletal muscle, and liver. It has been suggested as a candidate gene for congenital bilateral isolated ptosis. Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrome.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 8/genética , Discapacidad Intelectual/genética , Adolescente , Niño , Preescolar , Hibridación Genómica Comparativa , Facies , Femenino , Humanos , Hibridación Fluorescente in Situ , Masculino , Fenotipo , Reproducibilidad de los Resultados , Síndrome
10.
Am J Med Genet A ; 164A(2): 338-45, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24311462

RESUMEN

In 2005, we reported on a family as having Frías syndrome (OMIM: 609640), with four affected members displaying a pattern of congenital defects nearly identical to those observed in a mother and son described by Frias [Frías et al. (1975). Birth Defects Orig Artic Ser 11:30-33]. These defects included growth deficiency, facial anomalies, and hand and foot alterations. We had the opportunity to study this family again due to the birth of another affected girl, who presented with similar facial characteristics to those of her elder half-sister and the rest of affected relatives, which consisted of mild exophthalmia, bilateral palpebral ptosis, downslanting palpebral fissures, and hypertelorism. We performed array-CGH, which identified an identical interstitial deletion of chromosome 14q22.1-q22.3 in the mother and two daughters. The deletion is 4.06 Mb in length and includes the BMP4 gene, a member of the bone morphogenetic protein (BMP) family of secreted proteins. A review of the literature showed that deletions or mutations of this gene underlie congenital defects affecting brain, eye, teeth, and digit development. Although the clinical manifestations of the current family correlate with the defects observed in patients having either 14q22-q23 deletions or mutations of BMP4, they show a milder phenotype. In order to understand the clinical variability, we evaluated the already known functional characteristics of the BMP gene members. This gene family plays an important role during early embryogenesis, and the complex synergistic functions and redundancies of the BMPs led us to conclude that haploinsufficiency of BMP4 is likely to be responsible for the clinical expression of Frías syndrome.


Asunto(s)
Proteína Morfogenética Ósea 4/genética , Cara/anomalías , Deformidades Congénitas del Pie/diagnóstico , Deformidades Congénitas del Pie/genética , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/genética , Haploinsuficiencia , Niño , Preescolar , Bandeo Cromosómico , Deleción Cromosómica , Cromosomas Humanos Par 14 , Hibridación Genómica Comparativa , Facies , Femenino , Eliminación de Gen , Humanos , Recién Nacido , Linaje , Fenotipo
11.
Am J Med Genet A ; 164A(3): 639-47, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24357464

RESUMEN

The increasing use of molecular tools in genetic diagnosis has produced a surge in the detection of genomic imbalances. Among the growing number of newly discovered chromosome alterations are the interstitial deletions 14q21-q23. In previous reports of this deletion, the patients appear to share ocular defects, pituitary alterations and hand/foot anomalies. Here, we present a 12-year-old girl with dysmorphic face, choanal atresia, gastroesophageal reflux, and moderate developmental delay, in whom an interstitial deletion 14q22.3-q23.2 was detected using a 180k array comparative genome hybridization. The 6.5 Mb deletion contains 27 genes, including three genes of the SIX family: SIX1, SIX4, and SIX6. In mammals, Six1 has been shown to be involved in ocular differentiation, whereas Six4 and Six6 are primarily expressed in the hypothalamus, pituitary gland, and facial bones. We used data on mouse embryos to evaluate the expression of the SIX genes, as well as other representative genes lost in the current patient and a previously published case with a similar phenotype, in order to correlate their pattern of expression with the functional anomalies that constitute the patient's phenotype. We also explored the possibility of other genetic influences, such as the existence of an imprinted region in chromosome 14q, which may provide a better understanding of the observed clinical variability.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 14 , Animales , Niño , Hibridación Genómica Comparativa , Facies , Femenino , Eliminación de Gen , Estudios de Asociación Genética , Humanos , Hibridación in Situ , Ratones , Fenotipo
13.
J Orthop Surg Res ; 19(1): 256, 2024 Apr 22.
Artículo en Inglés | MEDLINE | ID: mdl-38649996

RESUMEN

BACKGROUND: The Michigan Hand Outcomes Questionnaire (MHQ) is a self-report tool widely recognized for measuring the health status of patients with hand and wrist problems from a multidimensional perspective. The aim of this study is to translate and culturally adapt the MHQ and validate its psychometric properties of validity, reliability, and responsiveness for different hand problems in Spain. METHODS: The MHQ was translated and culturally adapted following the recommendations of the American Association of Orthopaedic Surgeons. The validation process adhered to the current Consensus-Based Standards for the Selection of Health Status Measurement Instruments (COSMIN) group and was conducted on 262 hand patients. Reliability was assessed through internal consistency using Cronbach's alpha. The study evaluated the test-retest reliability of the measurements using the intraclass correlation coefficient (ICC). Additionally, the measurement error was calculated using the standard error of measurement (SEM) and smallest detectable change (SDC). To assess the structural validity, confirmatory factor analysis (CFA) was employed, while construct validity was evaluated using Pearson's correlation coefficient. Finally, responsiveness was assessed using effect size (ES), standardized response mean (SRM), and minimum clinically important difference (MCID). RESULTS: The reliability of the test was confirmed through internal consistency analysis, with a good Crombach's Alpha (0.82-0.85), and test-retest analysis, with good values of ICC (0.74-0.91). The measurement error was also assessed, with low values of SEM (1.70-4.67) and SDC (4.71-12.94)). The CFA confirmed the unidimensionality of each scale with goodness of fit indices, while the MHQ showed a high and negative correlation with DASH (r = - 0.75, P < 0.001) and DASH-work (r = - 0.63, P < 0.001) and was irrelevant with EQ-5D (r = - 0.01, P > 0.005) and grip strength (r = 0.05, P > 0.005). At week 5, all 222 patients across the three diagnosed hand subgroups showed moderate to high values above 0.92 for ES and SRM, with one MCID above 6.85. CONCLUSIONS: The MHQ-Sp was culturally adapted, and the results of this version showed good reliability and validity as well as high responsiveness for a wide range of hand conditions after surgical or conservative treatment in Spain.


Asunto(s)
Psicometría , Humanos , Masculino , Femenino , Reproducibilidad de los Resultados , España , Persona de Mediana Edad , Psicometría/métodos , Encuestas y Cuestionarios/normas , Adulto , Anciano , Comparación Transcultural , Traducciones , Mano
14.
Hand Surg Rehabil ; 43(3): 101715, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38782363

RESUMEN

This systematic review aims to provide a comprehensive synthesis and in-depth analysis of the quality of the different cross-cultural versions of the MHQ. This study was conducted using Pubmed, Web of Science, CINAHL and SCOPUS databases to identify cross-cultural validation studies of the MHQ. Methodological quality, quality of evidence and criteria for good measurement properties of these studies were applied for each psychometric property. Quality assessment and data extraction were performed independently by two reviewers according to the COnsensus-based Standards for selection of health Measurement INstruments (COSMIN) guidelines. A total of 493 articles were identified, of which 22 were included and 20 were analysed.Of the six properties analysed, responsiveness and hypothesis testing for construct validity had the highest methodological quality and quality of evidence, and met the criteria for good measurement properties. The lowest quality properties were measurement error and internal consistency. The different cross-cultural versions of the MHQ were found to be reliable, valid and able to detect clinical change. The lack of development of measurement error, formulation of an a priori hypothesis or structural validity affects the detection of small clinical changes and their discriminative capacity.


Asunto(s)
Comparación Transcultural , Psicometría , Humanos , Encuestas y Cuestionarios/normas , Reproducibilidad de los Resultados , Mano , Evaluación de la Discapacidad
15.
Healthcare (Basel) ; 12(3)2024 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-38338181

RESUMEN

Intermediate care units (IMCUs) have become increasingly important in the care of critical and semi-critical patients, particularly during the COVID-19 pandemic. However, there is still no clear definition of their structural characteristics, specialties, types of patients, and the benefits they provide. The aim of this work is to describe the current state of implementation and operation of IMCUs in hospitals and patient care. To achieve this goal, a systematic review was conducted in the Web of Science, Scopus and CINAHL databases, along with a hand search. The research yielded 419 documents, of which 26 were included in this review after applying inclusion and exclusion criteria. The results were highly diverse and were categorized based on the following topics: material resources, human resources, continuity of care, and patient benefits. Despite the different objectives outlined in the studies, all of them demonstrate the numerous benefits provided by an IMCU, along with the increased relevance of this type of unit in recent years. Therefore, this systematic review highlights the benefits of IMCUs in the care of critical patients, as well as the role of health workers in these units.

16.
Healthcare (Basel) ; 12(3)2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38338270

RESUMEN

Suicide is a significant public health concern, with one million lives lost to it every year. Suicidal ideation and attempts are markers of high risk. The COVID-19 pandemic has had a negative psychological impact on the population. This study aims to describe and analyze the clinical and sociodemographic characteristics of patients who have received medical attention for self-harm attempts in a hospital emergency department, comparing the period before and after the COVID-19 pandemic. This is a descriptive, retrospective study that collected data from medical records of patients who received care for self-harm attempts in the emergency department. The data included cases from 1 January 2018 to 31 December 2022. In total, 529 cases of self-harm attempts were identified, of which 62.8% were female. The number of post-pandemic self-harm attempts significantly increased compared to the period before the pandemic. The most used method for self-harm was medication ingestion. This study revealed that over one-third of the participants had previously attempted suicide. Most self-harm attempts were made by women in the 10-20 or 41-50 age groups, with a history of psychiatric illness and multiple medications. The study results also highlighted an increase in self-harm attempts during the COVID-19 pandemic.

17.
Rev Esc Enferm USP ; 58: e20230290, 2024.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38743956

RESUMEN

OBJECTIVE: To describe and analyze the relationship between pregnancy-related anxiety, prenatal distress, and individual resilience in pregnant women during the first trimester of pregnancy and compare it with the obstetric variable of parity. METHOD: Quantitative, descriptive, cross-sectional study using non-probabilistic circumstantial sampling. A total of 144 women participated. The Prenatal Distress Questionnaire, the Resilience Scale, and the Pregnancy-Related Anxiety Questionnaire were used. A descriptive analysis with measures of central tendency was performed, and the reliability of the instruments was assessed. RESULTS: The average age was 33.57 years. 58.3% were multiparous and 41.7% primiparous. Anxiety was found in 21.5% and very high levels of resilience in 54.9%. Primiparous women showed higher levels of worry about the future and fear of childbirth than multiparous women. Pregnant women with high resilience showed lower levels of anxiety and stress. CONCLUSION: Pregnant women with higher levels of resilience show less anxiety and stress during the first trimester of pregnancy. Primiparous women show more anxiety and stress than multiparous women.


Asunto(s)
Ansiedad , Complicaciones del Embarazo , Primer Trimestre del Embarazo , Resiliencia Psicológica , Estrés Psicológico , Humanos , Femenino , Embarazo , Estudios Transversales , Adulto , Primer Trimestre del Embarazo/psicología , Ansiedad/epidemiología , Estrés Psicológico/epidemiología , Complicaciones del Embarazo/psicología , Adulto Joven , Paridad , Encuestas y Cuestionarios
18.
Am J Med Genet A ; 161A(9): 2281-90, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23894067

RESUMEN

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244 k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.84 Mb affecting only the cytoband 21q22.11 (genome coordinates chr21:31,874,016-34,711,763). We selected 10 of the most recent published cases with either total or partial deletions of cytoband 21q22.11 that provided good characterization of the genomic size or the genes in the deleted regions. We observed that in nine of the 10 cases the deleted regions included the RUNX1 gene in 21q22.12, which is not affected in the current patient's deletion or in that of Patient 3 from Roberson et al. [2011]. After a comparison of shared deleted genes between cases, and correlation of their potential phenotypes, we concluded that the pattern of defects considered for a diagnosis of MWS may represent part of the phenotypic expression of a partial or total deletion of 21q22.11.


Asunto(s)
Anomalías Múltiples/genética , Aracnodactilia/genética , Blefarofimosis/genética , Deleción Cromosómica , Cromosomas Humanos Par 21 , Enfermedades del Tejido Conjuntivo/genética , Contractura/genética , Anomalías Múltiples/diagnóstico , Aracnodactilia/diagnóstico , Blefarofimosis/diagnóstico , Encéfalo/patología , Niño , Bandeo Cromosómico , Mapeo Cromosómico , Hibridación Genómica Comparativa , Enfermedades del Tejido Conjuntivo/diagnóstico , Contractura/diagnóstico , Facies , Femenino , Humanos , Fenotipo
19.
PLoS One ; 18(8): e0289553, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37582086

RESUMEN

AIM: To study the existence of subgroups by exploring the similarities between the attributes of the nodes of the groups, in relation to diet and gender and, to analyse the connectivity between groups based on aspects of similarities between them through SNA and artificial intelligence techniques. METHODS: 235 students from 5 different educational centres participate in this study between March and December 2015. Data analysis carried out is divided into two blocks: social network analysis and unsupervised machine learning techniques. As for the social network analysis, the Girvan-Newman technique was applied to find the best number of cohesive groups within each of the friendship networks of the different classes analysed. RESULTS: After applying Girvan-Newman in the three classes, the best division into clusters was respectively 2 for classroom A, 7 for classroom B and 6 for classroom C. There are significant differences between the groups and the gender and diet variables. After applying K-means using population diet as an input variable, a K-means clustering of 2 clusters for class A, 3 clusters for class B and 3 clusters for class C is obtained. CONCLUSION: Adolescents form subgroups within their classrooms. Subgroup cohesion is defined by the fact that nodes share similarities in aspects that influence obesity, they share attributes related to food quality and gender. The concept of homophily, related to SNA, justifies our results. Artificial intelligence techniques together with the application of the Girvan-Newman provide robustness to the structural analysis of similarities and cohesion between subgroups.


Asunto(s)
Inteligencia Artificial , Pandemias , Humanos , Adolescente , Análisis de Redes Sociales , Obesidad/epidemiología , Aprendizaje Automático
20.
Front Psychiatry ; 14: 1166882, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37065878

RESUMEN

Introduction: The COVID-19 pandemic has had numerous maternal and neonatal consequences, especially at the mental level. Pregnant women experience a rise in anxiety symptoms and prenatal stress. Aims: The aim was to describe self-perceived health status, general stress and prenatal stress and to analyze relations and associations with sociodemographic factors. Methods: A quantitative, descriptive and cross-sectional study was conducted using non-probabilistic circumstantial sampling. The sample was recruited during the first trimester of pregnancy during the control obstetrical visit. The Google Forms platform was used. A total of 297 women participated in the study. The Prenatal Distress Questionnaire (PDQ), the Perceived Stress Score (PSS) and the General Health Questionnaire (GHQ-28) were used. Results: Primiparas presented higher levels of worry about childbirth and the baby (10.93 ± 4.73) than multiparous women (9.88 ± 3.96). Somatic symptoms were present in 6% of the women. Anxiety-insomnia was scored positively by 18% of the women. In the Spearman correlation analysis, statistically significant values were found between almost all study variables. A positive correlation was observed between self-perceived health and prenatal and general stress levels. Discussion: During the first trimester of gestation, prenatal concerns increase when levels of anxiety, insomnia and depression also increase. There is a clear relationship between prenatal worries, anxiety, insomnia and depression with stress. Health education that focuses on mental health of pregnant women would help reduce worries during pregnancy and would improve the pregnant women perception of her health and well-being.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA