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1.
BMC Infect Dis ; 24(1): 1059, 2024 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-39334011

RESUMEN

BACKGROUND: Peripheral neuropathy (PN) is a common neurological complication of HIV (Human Immunodeficiency Virus) that can significantly affect patients' quality of life. In Ethiopia, children living with HIV are at an increased risk of developing peripheral neuropathy due to comorbidities such as anemia, tuberculosis, malnutrition, and poor socio-economic status. Our study aims to evaluate the prevalence of peripheral neuropathy among children living with HIV in Ethiopia using a simple clinical screening tool. METHODS: A health institution-based cross-sectional study was conducted among 148 children aged 5 to 18 years living with HIV who are receiving treatment at the antiretroviral therapy (ART) clinic of the randomly selected public health institutions in the Gamo zone. An interview and neurologic examination were conducted. A binary logistic regression model was used to identify factors associated with the outcome variable. Variables with p-value < 0.25 in the bi-variable logistic regression analysis were entered and checked for association in a multivariable logistic regression model. The level of statistical significance was declared at the p-value < 0.05. RESULT: In this study, 148 children participated, making a response rate of 97.5%. The mean ± standard deviation (SD) age of the respondents was 15.03 ± 2.99 years, and 81(54.7%) were male. The magnitude of PN was 20.9% (31/148). Children in the age category of 15-18 (adjusted odds ratio (AOR) = 1.88, 95%CI; 1.24-4.60), low BMI for age (AOR = 1.66, 95%CI; 1.12-4.15), last exposure to isoniazid within 1 year (AOR = 2.31, 95%CI; 1.12-8.53). Longer duration of HIV illness (AOR = 2.17, 95%CI; 1.54-4.64), and past tuberculosis (TB) treatment (AOR = 2.11, 95%CI; 1.08-7.48) were significantly associated factors with peripheral neuropathy. CONCLUSION: Our analysis revealed that being in the age category of 15-18 years, low BMI for age, Isoniazid exposure, longer Duration of HIV illness, and past TB treatment were significantly associated with peripheral neuropathy in children living with HIV. These disease-related factors may contribute to the development and progression of peripheral neuropathy in this population. CLINICAL TRIAL NUMBER: Not applicable.


Asunto(s)
Infecciones por VIH , Enfermedades del Sistema Nervioso Periférico , Humanos , Etiopía/epidemiología , Estudios Transversales , Masculino , Femenino , Adolescente , Niño , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/complicaciones , Infecciones por VIH/epidemiología , Enfermedades del Sistema Nervioso Periférico/epidemiología , Enfermedades del Sistema Nervioso Periférico/inducido químicamente , Preescolar , Prevalencia , Factores de Riesgo , Fármacos Anti-VIH/uso terapéutico , Fármacos Anti-VIH/efectos adversos
2.
BMC Cardiovasc Disord ; 24(1): 527, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39354346

RESUMEN

BACKGROUND: Primary electrical disorders (PEDs) are a group of cardiac rhythm abnormalities that occur in the absence of detectable structural heart disease and are a significant cause of sudden cardiac death (SCD). The initiation of cardiac muscle contraction and relaxation is orchestrated by the action potential (AP), generated through ionic changes across the membrane. Mutations in the AP-related gene CACNA2D1 have been identified as a causative factor for PED. METHODS: We recruited a Chinese family with a history of arrhythmia. The proband has experienced palpitations and chest tightness for over 40 years, with symptoms worsening over the past year. Whole exome sequencing (WES) was used to determine the genetic etiologies in this family. RESULTS: A novel heterozygous missense mutation (NM_000722.3: c.1685G > C;p.G562A) of CACNA2D1 gene was detected. Genotyping of the proband's parents indicated that the arrhythmia phenotype in the proband was caused by a de novo mutation. CONCLUSIONS: WES was utilized to explore the genetic etiology in a family with arrhythmia, leading to the identification of a novel mutation in the CACNA2D1 gene. This study not only expands the mutation spectrum of the CACNA2D1 gene but also contributes to genetic counseling and clinical diagnosis for this family.


Asunto(s)
Arritmias Cardíacas , Secuenciación del Exoma , Predisposición Genética a la Enfermedad , Heterocigoto , Mutación Missense , Linaje , Fenotipo , Humanos , Masculino , Arritmias Cardíacas/genética , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatología , Femenino , China , Análisis Mutacional de ADN , Adulto , Pueblo Asiatico/genética , Canales de Calcio/genética , Persona de Mediana Edad , Herencia , Frecuencia Cardíaca/genética , Potenciales de Acción , Pueblos del Este de Asia
3.
Int J Eat Disord ; 57(3): 695-702, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38358009

RESUMEN

BACKGROUND: A significant number of people with bulimia nervosa (BN) or binge-eating disorder (BED) do not seek professional help. Important reasons include limited knowledge of eating disorders (EDs), feelings of shame, treatment costs, and restricted access to specialized healthcare. In this study, we explored if a novel therapy delivered in a primary care setting could overcome these barriers. We investigated factors such as motivation and expectations and included the patients' and newly trained therapists' perspectives. METHOD: We interviewed 10 women with BN (n = 2) or BED (n = 8), enrolled in the Physical Exercise and Dietary therapy (PED-t) program, in a Healthy Life Center (HLC) located in a primary healthcare facility. Interview topics discussed were motivations for and expectations of therapy, and the treatment location. In addition, 10 therapists from HLC's were interviewed on their experiences with the PED-t training program and expectations of running PED-t within their service. The semi-structured interviews were analyzed using reflexive thematic analysis. RESULTS: Most patients had limited knowledge about EDs and first realized the need for professional help after learning about PED-t. Patients exhibited strong motivations for treatment and a positive perception of both the PED-t, the new treatment setting, and the therapists' competencies. The therapists, following a brief training program, felt confident in their abilities to treat EDs and provide PED-t. With minor operational adjustments, PED-t can seamlessly be integrated into national HLC service locations. CONCLUSION: PED-t is an accessible therapeutic service that can be delivered in a primary care environment in a stepped-care therapy model. PUBLIC SIGNIFICANCE: This study investigates the views and experiences of patients and newly trained therapists of PED-t (Physical Exercise and Dietary therapy), a new program-led primary care therapy for binge-eating spectrum eating disorders. The treatment and the locations for the intervention, that is, local health care centers, were found to be highly acceptable to both patients and therapists, thus PED-t could easily be integrated as a first step into a step-care delivery model.


Asunto(s)
Trastorno por Atracón , Bulimia Nerviosa , Humanos , Femenino , Motivación , Trastorno por Atracón/terapia , Bulimia Nerviosa/terapia , Terapia por Ejercicio , Ejercicio Físico
4.
J Stroke Cerebrovasc Dis ; 33(4): 107586, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38242183

RESUMEN

OBJECTIVE: The off-label utilization of the Pipeline Embolization Device (PED) is a common practice in numerous medical centers globally. Therefore, we conducted a systematic review and meta-analysis to evaluate the overall outcomes of this off-label usage of PEDs. METHODS: PubMed, Web of Science, Ovid Medline, Ovid Embase, and Scopus were searched up to February 2023 using the Nested Knowledge platform to identify studies assessing the off-label use of PEDs. Any use of PED outside of the FDA-approved indication granted in 2018 is considered off-label use. Overall angiographic occlusion rates, ischemic and hemorrhagic complications, mortality, retreatment rates, and favorable clinic outcomes were included. Statistical analyses were performed to compare the overall outcome rates of anterior cerebral artery(ACA) vs. middle cerebral artery(MCA) and anterior vs posterior circulation subgroups. RESULTS: We included 26 studies involving a total of 1,408 patients. The overall rate of complete occlusion was 80.3 % (95 % CI= 76.0-84.1). Subgroup analysis demonstrated a statistically significant difference in the rate of complete occlusion between anterior circulation (78.9 %) and posterior circulation (69.2 %) (p value=0.02). The rate of good clinical outcomes was 92.8 % (95 % CI= 88.8-95.4). The mortality rate was 1.4 % (95 % CI= 0.5-2.7). The overall rate of ischemic complications was 9.5 % (95 % CI= 7.7-11.6), with a comparable difference between anterior circulation (7.7 %) and posterior circulation (12.8 %) (p value=0.07). There was no statistically significant difference in MCA vs ACA subgroups in all parameters. CONCLUSIONS: Off-label use of PEDs can be a safe and effective treatment option for intracranial aneurysms. However, there is a need for more prospective, high-quality, non-industry-funded registry studies and randomized trials to test the efficacy and safety of off-label usage of PEDs and to expand its indications.


Asunto(s)
Embolización Terapéutica , Aneurisma Intracraneal , Uso Fuera de lo Indicado , Humanos , Embolización Terapéutica/efectos adversos , Embolización Terapéutica/instrumentación , Embolización Terapéutica/mortalidad , Resultado del Tratamiento , Factores de Riesgo , Aneurisma Intracraneal/terapia , Aneurisma Intracraneal/mortalidad , Aneurisma Intracraneal/diagnóstico por imagen , Femenino , Persona de Mediana Edad , Masculino , Anciano , Adulto , Medición de Riesgo , Procedimientos Endovasculares/efectos adversos , Procedimientos Endovasculares/instrumentación , Procedimientos Endovasculares/mortalidad
5.
BMC Ophthalmol ; 23(1): 205, 2023 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-37165311

RESUMEN

BACKGROUND: Retinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and sometimes blindness, the most common syndromic form of which is Usher syndrome (USH). This study aimed to further increase understanding of the spectrum of RP in the Khyber Pakhtunkhwa region of Pakistan. METHODOLOGY: Four consanguineous families of Pashtun ethnic group were investigated which were referred by the local collaborating ophthalmologists. In total 42 individuals in four families were recruited and investigated using whole exome and dideoxy sequencing. Among them, 20 were affected individuals including 6 in both family 1 and 2, 5 in family 3 and 3 in family 4. RESULT: Pathogenic gene variants were identified in all four families, including two in cone dystrophy and RP genes in the same family (PDE6C; c.480delG, p.Asn161ThrfsTer33 and TULP1; c.238 C > T, p.Gln80Ter) with double-homozygous individuals presenting with more severe disease. Other pathogenic variants were identified in MERTK (c.2194C > T, p.Arg732Ter), RHO (c.448G > A, p.Glu150Lys) associated with non-syndromic RP, and MYO7A (c.487G > A, p.Gly163Arg) associated with USH. In addition, the reported variants were of clinical significance as the PDE6C variant was detected novel, whereas TULP1, MERTK, and MYO7A variants were detected rare and first time found segregating with retinal dystrophies in Pakistani consanguineous families. CONCLUSIONS: This study increases knowledge of the genetic basis of retinal dystrophies in families from Pakistan providing information important for genetic testing and diagnostic provision particularly from the Khyber Pakhtunkhwa region.


Asunto(s)
Distrofias Retinianas , Retinitis Pigmentosa , Humanos , Consanguinidad , Pakistán , Tirosina Quinasa c-Mer/genética , Mutación , Distrofias Retinianas/genética , Retinitis Pigmentosa/diagnóstico , Linaje , Análisis Mutacional de ADN
6.
Neurosurg Focus ; 54(5): E4, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37127036

RESUMEN

OBJECTIVE: Ruptured blister, dissecting, and iatrogenic pseudoaneurysms are rare pathologies that pose significant challenges from a treatment standpoint. Endovascular treatment via flow diversion represents an increasingly popular option; however, drawbacks include the requirement for dual antiplatelet therapy and the potential for thromboembolic complications, particularly acute complications in the ruptured setting. The Pipeline Flex embolization device with Shield Technology (PED-Shield) offers reduced material thrombogenicity, which may aid in the treatment of ruptured internal carotid artery pseudoaneurysms. METHODS: The authors conducted a multi-institution, retrospective case series to determine the safety and efficacy of PED-Shield for the treatment of ruptured blister, dissecting, and iatrogenic pseudoaneurysms of the internal carotid artery. Clinical, radiographic, treatment, and outcomes data were collected. RESULTS: Thirty-three patients were included in the final analysis. Seventeen underwent placement of a single device, and 16 underwent placement of two devices. No thromboembolic complications occurred. Four patients were maintained on aspirin alone, and all others were treated with long-term dual antiplatelet therapy. Among patients with 3-month follow-up, 93.8% had a modified Rankin Scale score of 0-2. Complete occlusion at follow-up was observed in 82.6% of patients. CONCLUSIONS: PED-Shield represents a new option for the treatment of ruptured blister, dissecting, and iatrogenic pseudoaneurysms of the internal carotid artery. The reduced material thrombogenicity appeared to improve the safety of the PED-Shield device, as this series demonstrated no thromboembolic complications even among patients treated with only single antiplatelet therapy. The efficacy of PED-Shield reported in this series, particularly with placement of two devices, demonstrates its potential as a first-line treatment option for these pathologies.


Asunto(s)
Aneurisma Falso , Embolización Terapéutica , Aneurisma Intracraneal , Tromboembolia , Humanos , Aneurisma Intracraneal/terapia , Resultado del Tratamiento , Inhibidores de Agregación Plaquetaria , Estudios Retrospectivos , Arteria Carótida Interna , Aneurisma Falso/etiología , Aneurisma Falso/terapia , Vesícula , Angiografía Cerebral , Enfermedad Iatrogénica
7.
J Pediatr Nurs ; 71: e38-e45, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37142493

RESUMEN

PURPOSE: The aim of this study should be to adopt the Turkish version of the vital signs monitoring on pediatric wards scale (Ped-V scale). DESIGN AND METHOD: This methodological study was carried out with 331 pediatric nurses aged 18-65 between September 2022 and November 2022. The data were collected using an online questionnaire including a Descriptive Information Form and the Ped-V scale. Before starting the implementation of the study, the language adaptation of the scale was made, then expert opinion was taken and a pilot application was made. Then the main sampling was applied and evaluated. Explanatory and confirmatory factor analysis, Cronbach's alpha, and item-total score analysis were used for data analysis. RESULTS: It was determined that the scale consisted of 30 items and four sub-dimensions and that four sub-dimensions explained 42.91% of the total variance. Both exploratory and confirmatory factor analyses indicated that all factor loads were >0.30. According to the confirmatory factor analysis, all of the fit indices were >0.80, and the RMSEA was <0.080. Cronbach's alpha was determined as 0.88 for the total scale and >0.60 for all sub-dimensions. CONCLUSION: As a result of the analyses, it was determined that the Ped-V scale was a valid and reliable measurement tool for the Turkish sample. PRACTICE IMPLICATIONS: Using the Ped-V scale, it can help to determine the attitudes of nurses working in pediatric clinics toward monitoring vital signs and to plan in-service training if there is a problem.


Asunto(s)
Hospitales , Lenguaje , Niño , Humanos , Psicometría/métodos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Signos Vitales
8.
Pediatr Nephrol ; 37(12): 3177-3187, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35277754

RESUMEN

BACKGROUND: We developed the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD) as a subcohort of KNOW-CKD to investigate the different characteristics of pediatric CKD between countries and races. METHODS: Children aged younger than 18 years with stage 1 ~ 5 CKD were recruited at seven major pediatric nephrology centers in Korea. Blood and urine samples, as well as demographic and clinical data, were collected. From 2011 to 2016, 458 children were enrolled, and the baseline profiles of 437 children were analyzed. RESULTS: The median age of the cohort was 10.9 years old, and 68.0% were males. The median estimated glomerular filtration rate was 53.1 mL/min/1.73 m2. The most common etiology of CKD was congenital anomalies of the kidney and urinary tract (42.6%), followed by glomerulopathies (25.6%). CONCLUSION: We report a cross-sectional analysis of the overall baseline characteristics such as age, CKD stage, and underlying kidney disease of the KNOW-Ped CKD. The cohort will be longitudinally followed for ten years. "A higher resolution version of the Graphical abstract is available as Supplementary information."


Asunto(s)
Insuficiencia Renal Crónica , Masculino , Humanos , Niño , Femenino , Estudios de Cohortes , Estudios Transversales , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/etiología , Tasa de Filtración Glomerular , Riñón , Factores de Riesgo , Progresión de la Enfermedad
9.
BMC Palliat Care ; 21(1): 87, 2022 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-35610720

RESUMEN

BACKGROUND: This study examined care needs and utilisation of psychosocial support services among parents of children who had received specialist paediatric palliative care, as well as the relationship between need fulfilment and grief. Possible differences between parents of children who died of cancer versus a non-cancer disease were explored. METHODS: This exploratory study, conducted in two specialist paediatric palliative care facilities, included parents who had lost a child within a period of 0.5 to 8 years before this investigation. From the bereavement perspective, parents reported their needs during paediatric palliative care using the Family Inventory of Needs - Peadiatric II (FIN-PED II). Utilisation of psychosocial support services during paediatric palliative care and after the child's death, as well as potential barriers to accessing services were assessed. Grief symptoms were measured using the Inventory of Complicated Grief - German Version (ICG-D). RESULTS: Overall, 56 of 157 approached parents participated in the study. Mean time interval after the child's death was 3.2 years. Of the 17 FIN-PED II needs, 13 needs were reported to be very/extremely important to more than 75% of the parents each. Highest ranked needs related to asking questions at any time (100%), sincere care for the child (100%), and information about changes in the child's condition (98%). The highest ranked unmet needs related to hope (61%), interactions with siblings (41-42%), and trust in the health care system (39%). Comparisons showed no significant differences between parents whose child died of cancer (n = 18) versus a non-cancer disease (n = 38). During paediatric palliative care, 61% of the parents had accessed at least one psychosocial support service and 84% had done so after the child's death. The most prominent barriers for accessing services were sufficient informal support (38%), no subjective need (23%), and lack of time (20%). Overall, 52% of the parents showed noticeable symptoms for complicated grief (ICG-D > 25). A higher level of grief symptoms significantly correlated with a lower fulfilment of the need to say goodbye to the child (p = .042) with a medium correlational effect. CONCLUSIONS: Our findings may help to guide health care professionals in their assessment of parental needs and provision of support to parents during paediatric palliative care.


Asunto(s)
Aflicción , Neoplasias , Niño , Pesar , Humanos , Neoplasias/psicología , Cuidados Paliativos/psicología , Padres/psicología
10.
Environ Monit Assess ; 194(4): 265, 2022 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-35262815

RESUMEN

Due to global warming, droughts have become one of the focal points of researchers in the field of climate and water, all over the world. The analyses in this paper include spatial pattern and temporal trend for the territory of Serbia, over the 1949-2016 period. The De Martonne aridity index and the Ped drought index have been applied. Eighteen pairs of temperature and precipitation stations all over the country have been analyzed. The obtained results show a tendency toward a drier condition, which are not yet drastic. Drought areas for the territory of Serbia are increasing, but drought intensity and frequency should certainly be lower than those predicted for the Mediterranean coastal area, except in regions with very high human water use. Comparing the obtained results from stations at the original altitude and calculated data for the same stations at fixed virtual altitudes has shown that the natural direction of drought, which decreases from west to southeast, has shifted to a north to south direction.


Asunto(s)
Cambio Climático , Sequías , Monitoreo del Ambiente , Estaciones del Año , Serbia
11.
BMC Vet Res ; 17(1): 235, 2021 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-34225697

RESUMEN

BACKGROUND: Porcine epidemic diarrhoea (PED) is a highly contagious infectious disease with negative economic impacts on the swine industry. PED outbreaks were reported from 2009 to 2015, but sporadic infection has been observed until now in Vietnam. However, the seroprevalence of PEDV infection has not yet been reported for commercial pig farms in Vietnam. The aim of this study was to assess the seroprevalence of PEDV infection in Vietnamese pig farms to reveal the endemic status of PEDV in northern Vietnam. RESULTS: A serological survey of PEDV infection was carried out using indirect ELISA in commercial pig farms in Hai Duong, Hung Yen and Thai Binh provinces in northern Vietnam in 2019. Twenty sera were randomly collected from each of 10 commercial pig farms, from each province; none of the farms had vaccinated for PEDV. Serological evidence of natural PEDV infection, expressed as a high antibody titre, was observed in the pig farms in all 3 provinces. The OD values were significantly higher (p < 0.001) for pig sera from Thai Binh than from Hai Duong and Hung Yen. No significant differences (p > 0.05) were detected for seropositivity to PEDV based on locality, age, pig breed and farm size. CONCLUSIONS: This study indicates serological evidence of natural PEDV infection with high antibody titre in commercial pig farms. PEDV infection was widespread among the pig population in these 3 provinces and that good management and strict biosecurity are needed at these pig farms.


Asunto(s)
Infecciones por Coronavirus/veterinaria , Virus de la Diarrea Epidémica Porcina/aislamiento & purificación , Enfermedades de los Porcinos/epidemiología , Animales , Anticuerpos Antivirales , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/inmunología , Ensayo de Inmunoadsorción Enzimática/veterinaria , Estudios Seroepidemiológicos , Sus scrofa , Porcinos , Enfermedades de los Porcinos/virología , Vietnam/epidemiología
12.
J Digit Imaging ; 34(3): 691-704, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-34080105

RESUMEN

Age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness and is characterized by fluid-related accumulations such as intra-retinal fluid (IRF), subretinal fluid (SRF), and pigment epithelial detachment (PED). Spectral-domain optical coherence tomography (SD-OCT) is the primary modality used to diagnose AMD, yet it does not have algorithms that directly detect and quantify the fluid. This work presents an improved convolutional neural network (CNN)-based architecture called RetFluidNet to segment three types of fluid abnormalities from SD-OCT images. The model assimilates different skip-connect operations and atrous spatial pyramid pooling (ASPP) to integrate multi-scale contextual information; thus, achieving the best performance. This work also investigates between consequential and comparatively inconsequential hyperparameters and skip-connect techniques for fluid segmentation from the SD-OCT image to indicate the starting choice for future related researches. RetFluidNet was trained and tested on SD-OCT images from 124 patients and achieved an accuracy of 80.05%, 92.74%, and 95.53% for IRF, PED, and SRF, respectively. RetFluidNet showed significant improvement over competitive works to be clinically applicable in reasonable accuracy and time efficiency. RetFluidNet is a fully automated method that can support early detection and follow-up of AMD.


Asunto(s)
Degeneración Macular , Tomografía de Coherencia Óptica , Humanos , Redes Neurales de la Computación , Retina/diagnóstico por imagen , Líquido Subretiniano/diagnóstico por imagen
13.
BMC Bioinformatics ; 21(1): 569, 2020 Dec 09.
Artículo en Inglés | MEDLINE | ID: mdl-33297934

RESUMEN

BACKGROUND: Pedigree files are ubiquitously used within bioinformatics and genetics studies to convey critical information about relatedness, sex and affected status of study samples. While the text based format of ped files is efficient for computational methods, it is not immediately intuitive to a bioinformatician or geneticist trying to understand family structures, many of which encode the affected status of individuals across multiple generations. The visualization of pedigrees into connected nodes with descriptive shapes and shading provides a far more interpretable format to recognize visual patterns and intuit family structures. Despite these advantages of a visual pedigree, it remains difficult to quickly and accurately visualize a pedigree given a pedigree text file. RESULTS: Here we describe ped_draw a command line and web tool as a simple and easy solution to pedigree visualization. Ped_draw is capable of drawing complex multi-generational pedigrees and conforms to the accepted standards for depicting pedigrees visually. The command line tool can be used as a simple one liner command, utilizing graphviz to generate an image file. The web tool, https://peddraw.github.io , allows the user to either: paste a pedigree file, type to construct a pedigree file in the text box or upload a pedigree file. Users can save the generated image file in various formats. CONCLUSIONS: We believe ped_draw is a useful pedigree drawing tool that improves on current methods due to its ease of use and approachability. Ped_draw allows users with various levels of expertise to quickly and easily visualize pedigrees.


Asunto(s)
Biología Computacional/métodos , Linaje , Programas Informáticos , Humanos
14.
BMC Musculoskelet Disord ; 21(1): 717, 2020 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-33143667

RESUMEN

BACKGROUND: Percutaneous endoscopic decompression (PED) is considered a minimally invasive and safe procedure in lumbar degenerative disease. Few authors report the success of PED for thoracic spinal stenosis (TSS) with thoracic myelopathy. The objective of this study was to compare the outcome of PED versus posterior decompressive laminectomy (PDL) for TSS. METHODS: We retrospectively reviewed 30 consecutive patients who underwent surgery for single-level TSS from January 1, 2015 to May 1, 2019.These patients were divided into PED (n = 16) and PDL(n = 14) group. Preoperative demographic characteristics and perioperative outcomes were reviewed. Pre- and postoperative neurological status was evaluated using the modified Japanese Orthopaedic Association (mJOA) score and the recovery rate (RR). RESULTS: The patients' mean age was 57.3 years (27-76) in PED group and 58.8 years (34-77) in PDL group. No statistical difference was found between two groups with regards to neurological status at pre-operative and final follow-up. The RR in PED group achieved the same improvement as PDL group (87.5% vs 85.7%, P > 0.05), while the PED brought advantages in operative time(m) (86.4 vs 132.1, p < 0.05), blood loss (mL) (18.21 vs 228.57, p < 0.05),drainage volume(mL) (15.5 vs 601.4, p < 0.05), and hospital stay (d) (3.6 vs 5.6, p < 0.05). CONCLUSIONS: Both PED and PDL showed favorable outcome in the treatment of TSS. Besides, PED had advantages in reducing traumatization. In terms of perioperative quality of life, PED could be an efficient supplement to traditional posterior decompressive laminectomy in patients with TSS.


Asunto(s)
Estenosis Espinal , Descompresión Quirúrgica , Humanos , Laminectomía , Vértebras Lumbares/diagnóstico por imagen , Vértebras Lumbares/cirugía , Persona de Mediana Edad , Calidad de Vida , Estudios Retrospectivos , Estenosis Espinal/diagnóstico por imagen , Estenosis Espinal/cirugía , Resultado del Tratamiento
15.
J Obstet Gynaecol Res ; 46(9): 1893-1899, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32656965

RESUMEN

AIM: Vulvovaginal candidosis (VVC) is the second most common vaginal infection (20-25%), and about 90% of all VVC cases are caused by Candida albicans. Unprotected sexual intercourse has been implicated as one of the risk factors that lead to an outbreak of VVC. To further investigate the relevance of this particular risk factor, in this study, we aim to evaluate the effect of human semen in the promotion of the growth of C. albicans. METHODS: The disposable amount of 41 samples of semen obtained from infertility patients were included in this study, with informed consent. The spermogram and physical characteristics of the samples were performed at the Unit; this information was provided with the anonymity of the samples. Samples were inoculated with a calibrated suspension of C. albicans ATCC 10231 in culture media. After the incubation time, C. albicans CFU/mL was determined. RESULTS: We found that semen allowed the growth of C. albicans (4.30 ± 1.00 CFU/mL), but not as much as the culture medium (9.45 ± 1.90 CFU/mL). Interestingly, we found that the increase in viscosity impaired significantly C. albicans growth. In addition, in what respects to the rate of multiplication of C. albicans in semen, we observed two different trends. However, we found no relation between these and the physical characteristics of the semen samples in which these behaviors were differently observed. CONCLUSION: Semen has the ability to sustain C. albicans growth, but further studies are needed to elucidate its role in VVC.


Asunto(s)
Candida albicans , Candidiasis Vulvovaginal , Candidiasis Vulvovaginal/epidemiología , Femenino , Humanos , Recurrencia , Factores de Riesgo , Semen
16.
Microsc Microanal ; 26(4): 630-640, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32583757

RESUMEN

Multiple experimental configurations for performing nanoscale orientation mapping are compared to determine their fidelity to the true microstructure of a sample. Transmission Kikuchi diffraction (TKD) experiments in a scanning electron microscope (SEM) and nanobeam diffraction (NBD) experiments in a transmission electron microscope (TEM) were performed on thin electrodeposited hard Au films with two different microstructures. The Au samples either had a grain size that is >50 or <20 nm. The same regions of the samples were measured with TKD apparatuses at 30 kV in an SEM with detectors in the horizontal and vertical configurations and in the TEM at 300 kV. Under the proper conditions, we demonstrate that all three configurations can produce data of equivalent quality. Each method has strengths and challenges associated with its application and representation of the true microstructure. The conditions needed to obtain high-quality data for each acquisition method and the challenges associated with each are discussed.

17.
World J Microbiol Biotechnol ; 36(5): 72, 2020 May 04.
Artículo en Inglés | MEDLINE | ID: mdl-32363424

RESUMEN

The bacteriocinogenic lactic acid bacterium Pediococcus pentosaceus LJR1 isolated from rumen liquor of goat had strong anti-bacterial activity toward Listeria monocytogenes in vitro. This antibacterial activity was lost on treatment with protease indicating that the bacteriocin is proteinaceous in nature. The bacteriocin LJR1 produced by P. pentosaceus was purified following a three step procedure consisting of ammonium sulphate precipitation, gel filtration chromatography and reverse phase-high performance liquid chromatography. The molecular weight of purified bacteriocin was determined to be 4.6 kDa using Tricine SDS-PAGE. Further, we found that the proteinaceous bacteriocin was stable at 100 °C as well as 121 °C for 30 min and 15 min respectively and also at different pH ranging from 4 to 10 when stored for 15 min at 37 °C. Its minimum inhibitory concentration for S. typhi MTCC134 and L. monocytogenes MTCC 1143 was 7.81 µg/ml and 15.63 µg/ml respectively. Scanning electron microscopy analysis of the surface of S. typhi treated with the bacteriocin showed the presence of craters; while in the case of treated L. monocytogenes blebs were observed. The addition of the bacteriocin to shrimp (white leg shrimp) has led to reduction of about 1 log units of L. monocytogenes on day 1 and maintained for 7 days on storage at 4 °C. It is clear that the purified bacteriocin has good potential as a bio preservative for application in food industry.


Asunto(s)
Antibacterianos/aislamiento & purificación , Antibacterianos/farmacología , Bacteriocinas/aislamiento & purificación , Bacteriocinas/farmacología , Conservación de Alimentos/métodos , Pediococcus pentosaceus/metabolismo , Penaeidae/microbiología , Animales , Antibacterianos/química , Bacteriocinas/química , Bacteriocinas/genética , Microbiología de Alimentos , Listeria monocytogenes/citología , Listeria monocytogenes/efectos de los fármacos , Pruebas de Sensibilidad Microbiana , Peso Molecular , Pediocinas/genética , Pediococcus pentosaceus/genética , Salmonella typhi/citología , Salmonella typhi/efectos de los fármacos , Alimentos Marinos/microbiología
18.
J Neurol Neurosurg Psychiatry ; 90(2): 227-234, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30242089

RESUMEN

Paroxysmal dyskinesias (PxD) refer to a rare group of clinically and genetically heterogeneous disorders presenting with recurrent attacks of abnormal movements, typically dystonia, chorea or a combination thereof, without loss of consciousness. Classically, PxD have been categorised according to their triggers and duration of the attacks, but increasing evidence suggests that there is a certain degree of clinical and genetic overlap and challenges the concept that one phenotype is attributable to one single aetiology. Here we review the increasing spectrum of genetic conditions, as well as of other non-genetic disorders, that might present with PxD, provide criteria for case definition and propose a diagnostic workup to reach a definitive diagnosis, on which treatment is heavily dependent.


Asunto(s)
Corea/diagnóstico , Corea/etiología , Humanos
19.
Curr Neurol Neurosci Rep ; 19(7): 48, 2019 06 11.
Artículo en Inglés | MEDLINE | ID: mdl-31187296

RESUMEN

PURPOSE OF REVIEW: Recent advancements in next-generation sequencing (NGS) have enabled techniques such as whole exome sequencing (WES) and whole genome sequencing (WGS) to be used to study paroxysmal movement disorders (PMDs). This review summarizes how the recent genetic advances have altered our understanding of the pathophysiology and treatment of the PMDs. Recently described disease entities are also discussed. RECENT FINDINGS: With the recognition of the phenotypic and genotypic heterogeneity that occurs amongst the PMDs, an increasing number of gene mutations are now implicated to cause the disorders. PMDs can also occur as part of a complex phenotype. The increasing complexity of PMDs challenges the way we view and classify them. The identification of new causative genes and their genotype-phenotype correlation will shed more light on the underlying pathophysiology and will facilitate development of genetic testing guidelines and identification of novel drug targets for PMDs.


Asunto(s)
Trastornos del Movimiento/genética , Estudios de Asociación Genética , Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/tratamiento farmacológico , Trastornos del Movimiento/fisiopatología , Mutación , Proteínas del Tejido Nervioso/genética , Fenotipo , Secuenciación del Exoma
20.
BMC Vet Res ; 15(1): 421, 2019 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-31775769

RESUMEN

BACKGROUND: Since 2010, outbreaks of genotype 2 (G2) porcine epidemic diarrhea virus (PEDV) have caused high mortality in neonatal piglets and have had devastating impacts on the swine industry in many countries. A reliable serological assay for evaluating the PEDV-specific humoral and mucosal immune response is important for disease survey, monitoring the efficacy of immunization, and designing strategies for the prevention and control of PED. Two PEDV spike (S) glycoprotein-based indirect enzyme-linked immunosorbent assays (ELISAs) were developed using G2b PEDV-Pintung 52 (PEDV-PT) trimeric full-length S and truncated S1-501 proteins derived from the human embryonic kidney (HEK)-293 cell expression system. The truncated S1-501 protein was selected from a superior expressed stable cell line. The sensitivity and specificity of these two ELISAs were compared to immunostaining of G2b PEDV-PT infected cells and to a commercial nucleocapsid (N)-based indirect ELISA kit using a panel of PEDV negative and hyperimmune sera. RESULTS: The commercial N-based ELISA exhibited a sensitivity of 37%, a specificity of 100%, and a fair agreement (kappa = 0.37) with the immunostaining result. In comparison, the full-length S-based ELISA showed a sensitivity of 97.8%, a specificity of 94%, and an almost perfect agreement (kappa = 0.90) with the immunostaining result. Interestingly, the S1-501-based ELISA had even higher sensitivity of 98.9% and specificity of 99.1%, and an almost perfect agreement (kappa = 0.97) with the immunostaining result. A fair agreement (kappa< 0.4) was seen between the commercial N-based ELISA and either of our S-based ELISAs. However, the results of the full-length S-based ELISA shared an almost perfect agreement (kappa = 0.92) with that of S1-501-based ELISA. CONCLUSIONS: Both full-length S-based and S1-501-based ELISAs exhibit high sensitivity and high specificity for detecting antibodies against PEDVs. Considering the high protein yield and cost-effectiveness, the S1-501-based ELISA could be used as a reliable, sensitive, specific, and economic serological test for PEDV.


Asunto(s)
Infecciones por Coronavirus/veterinaria , Ensayo de Inmunoadsorción Enzimática/veterinaria , Virus de la Diarrea Epidémica Porcina/inmunología , Enfermedades de los Porcinos/virología , Animales , Anticuerpos Antivirales/sangre , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/inmunología , Ensayo de Inmunoadsorción Enzimática/métodos , Sensibilidad y Especificidad , Glicoproteína de la Espiga del Coronavirus/inmunología , Porcinos , Enfermedades de los Porcinos/diagnóstico , Enfermedades de los Porcinos/inmunología
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