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1.
Rhinology ; 62(1): 101-110, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-37864409

RESUMEN

BACKGROUND: Inhibitors of apoptosis proteins (IAPs) modulate the inflammatory process, and may facilitate the formation of chronic rhinosinusitis with nasal polyps (CRSwNP). This study aimed to observe if IAPs were differently expressed between patients with CRSwNP and controls, and to correlate the expression of IAPs with some inflammatory markers, as with the response to nasal corticosteroids in patients with CRSwNP. METHODOLOGY: We obtained nasal biopsies from patients with CRSwNP (n=27) and controls (n=16). qRT-PCR measured the expression of IAPs and caspases, while Luminex assay measured the concentration of cytokines. Unpaired parametric tests and Principal Component Analysis (PCA) were used for statistical analysis. RESULTS: We observed lower expression of IAP genes (XIAP, BIRC2/IAP1, and BIRC3/IAP2) in CRSwNP patients compared to controls, and we identified that patients with bad response to corticosteroids presented lower levels of BIRC2/IAP1, XIAP, BCL2, CASP9, and IL-17, and higher levels of CASP7 and TGF-B. CONCLUSIONS: IAPs expression was downregulated in CRSwNP, and was associated with poorer response to nasal corticosteroids. The present findings suggest the importance of IAPs as a link between environment and the host inflammatory responses, and this pathway could be explored as a potential new target therapy for patients with CRSwNP.


Asunto(s)
Pólipos Nasales , Rinitis , Rinosinusitis , Sinusitis , Humanos , Pólipos Nasales/complicaciones , Pólipos Nasales/tratamiento farmacológico , Pólipos Nasales/genética , Citocinas/metabolismo , Sinusitis/complicaciones , Sinusitis/tratamiento farmacológico , Sinusitis/metabolismo , Apoptosis , Corticoesteroides , Enfermedad Crónica , Rinitis/complicaciones , Rinitis/tratamiento farmacológico , Rinitis/metabolismo
2.
Rhinology ; 62(1): 55-62, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-37772802

RESUMEN

BACKGROUND: Although the COVID-19 pandemic has increased the prevalence of cases with olfactory loss, other respiratory viruses can also cause this condition. We aimed to compare the prevalence of acute SARS-CoV-2 infection and other respiratory viruses in patients with sudden smell loss, and to assess the impact of SARS-CoV-2 viral load and co-infection on olfactory symptoms. METHODS: Patients with sudden smell loss were recruited in a multicenter prospective cohort study in 15 hospitals in Brazil. Clinical questionnaire, Connecticut Chemosensory Clinical Research Center (CCCRC) olfactory test and nasopharyngeal swab to perform a PCR-based respiratory viral panel were collected at first visit (day 0) and 30 and 60 days after recruitment. RESULTS: 188 of 213 patients presented positive test result for SARS-CoV-2, among which 65 were co-infected with other respiratory viruses (e.g., rhinovirus, enterovirus, and parainfluenza). 25 had negative test results for SARS-CoV-2. Patients in both SARSCoV-2 and non-SARS-CoV-2 groups had objective anosmia (less than 2 points according to the psychophysical olfactory CCCRC) at day 0, with no significant difference between them. Both groups had significant smell scores improvement after 30 and 60 days, with no difference between them. Co-infection with other respiratory viruses, and SARS-CoV-2 viral load did not impact olfactory scores. CONCLUSION: Patients with sudden smell loss associated with SARS-CoV-2 and other respiratory viruses had similar presentation, with most participants initiating with anosmia, and total or near total recovery after 60 days. SARS-CoV-2 viral load and co-infections with other respiratory viruses were not associated with poorer olfactory outcomes.


Asunto(s)
COVID-19 , Coinfección , Trastornos del Olfato , Humanos , SARS-CoV-2 , COVID-19/complicaciones , Anosmia/complicaciones , Anosmia/epidemiología , Estudios Prospectivos , Pandemias , Coinfección/complicaciones , Coinfección/epidemiología , Trastornos del Olfato/diagnóstico , Trastornos del Olfato/epidemiología , Trastornos del Olfato/etiología , Olfato
3.
Eur J Neurol ; 30(10): 3068-3078, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37354059

RESUMEN

BACKGROUND AND PURPOSE: The lack of reliable early biomarkers still causes substantial diagnostic delays in amyotrophic lateral sclerosis (ALS). The aim was to assess the diagnostic accuracy of a novel electrophysiological protocol in patients with suspected motor neuron disease (MND). METHODS: Consecutive patients with suspected MND were prospectively recruited at our tertiary referral centre for MND in Utrecht, The Netherlands. Procedures were performed in accordance with the Standards for Reporting of Diagnostic Accuracy. In addition to the standard diagnostic workup, an electrophysiological protocol of compound muscle action potential (CMAP) scans and nerve excitability tests was performed on patients' thenar muscles. The combined diagnostic yield of nerve excitability and CMAP scan based motor unit number estimation was compared to the Awaji and Gold Coast criteria and their added value was determined. RESULTS: In all, 153 ALS or progressive muscular atrophy patients, 63 disease controls and 43 healthy controls were included. Our electrophysiological protocol had high diagnostic accuracy (area under the curve [AUC] 0.85, 95% confidence interval [95% CI] 0.80-0.90), even in muscles with undetectable axon loss (AUC 0.78, 95% CI 0.70-0.85) and in bulbar-onset patients (AUC 0.85, 95% CI 0.73-0.95). Twenty-four of 33 (73%) ALS patients who could not be diagnosed during the same visit were correctly identified, as well as 8/13 (62%) ALS patients not meeting the Gold Coast criteria and 49/59 (83%) ALS patients not meeting the Awaji criteria during this first visit. CONCLUSIONS: Our practical and non-invasive electrophysiological protocol may improve early diagnosis in clinically challenging patients with suspected ALS. Routine incorporation may boost early diagnosis, enhance patient selection and generate baseline measures for clinical trials.


Asunto(s)
Esclerosis Amiotrófica Lateral , Enfermedad de la Neurona Motora , Humanos , Esclerosis Amiotrófica Lateral/diagnóstico , Potenciales de Acción/fisiología , Músculo Esquelético , Oro
4.
Inorg Chem ; 62(48): 19404-19411, 2023 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-37978941

RESUMEN

The preparation of a functional device based on a functionalized MIL-100(Fe) metal-organic framework for the solid-phase extraction of heavy metals is reported. By a simple and easy straightforward grafting procedure, a thiol-functionalized MIL-100(Fe) material (MIL-100(Fe)-SH) with a S/Fe ratio of 0.80 and a surface area of 840 m2 g-1 was obtained. MIL-100(Fe)-SH exhibited a higher Hg(II) extraction (96 ± 5%) than that of MIL-100(Fe) (78 ± 4%) due to the interaction between thiol groups and Hg(II) ions. For practical applications, the obtained MIL-100(Fe)-SH was integrated by a simple method to a 3D printed support based on a matrix of interconnected cubes using poly(vinylidene fluoride) as binder, obtaining a functional device that simultaneously acts as stirrer and sorbent. The developed device showed high efficiency for the removal of Hg(II), good reusability, and excellent performance for the simultaneous preconcentration and further detection and quantification of Hg(II), Pb(II), and As(V) in tap, well, and lake water samples.

5.
Health Qual Life Outcomes ; 21(1): 106, 2023 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-37704978

RESUMEN

PURPOSE: This study aims to assess the impact of a peer intervention programme in the hospital setting to improve the health-related quality of life (HRQoL) of people recently diagnosed with HIV infection. METHODS: A quasi-experimental single-group study with pre- and post-measurements was conducted. The peer intervention programme consisted of four sessions that took place at the following times: (1) the day of diagnosis, (2) the day when the results of the analyses were collected and ART (antiretroviral therapy) began, (3) one month after the start of ART, and (4) four months after the start of ART. The dependent variables were HRQoL and several of its psychological predictors. Change in the dependent variables was analysed through repeated measures, variance analysis and covariance analysis. Forty-three people with HIV participated in the intervention (40 men, mean age = 39.14). RESULTS: A significant positive evolution was found in all the predictors of HRQoL, except avoidant coping (p < .05). A positive evolution was also found in all HRQoL dimensions (p < .05). There was a significant increase in CD4 cells/mm3 lymphocytes (p < .0001) and in the CD4/CD8 ratio (p < .001). The positive differential scores in the psychological health and social relationship dimensions influenced the increase in CD4 cells/mm3 lymphocytes (p = .012, p = .13). The increase in the social relations dimension score and overall health perception influenced the recovery of the CD4/CD8 ratio (p = .044; p = .068). CONCLUSIONS: Peer intervention improved the HRQoL of people recently diagnosed with HIV, and enhanced psychological health and social relationships covariate with their immunological recovery. This study represents an essential advance in evaluating peer intervention programmes for positive prevention.


Asunto(s)
Infecciones por VIH , Masculino , Humanos , Adulto , Calidad de Vida , Terapia Conductista , Análisis de Varianza , Hospitales
6.
Langenbecks Arch Surg ; 408(1): 206, 2023 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-37221304

RESUMEN

PURPOSE: Surgery of primary thyroid lymphoma (PTL) has been mostly limited to diagnostic work-up. This study aimed to further study its potential role. METHODS: This was a retrospective study from a multi-institutional registry of PTL patients. Clinical, diagnostic work-up (fine needle aspiration, FNA; core needle biopsy, CoreNB), contribution of surgery (open surgical biopsy, OpenSB; thyroidectomy), histology subtype, and outcome data were evaluated. RESULTS: Some 54 patients were studied. Diagnostic work-up included FNA in 47 patients, CoreNB in 11, and OpenSB in 21. CoreNB yielded the best sensitivity (90.9%). Thyroidectomy was performed in 14 patients with other diagnosis (incidental PTL), in 4 for diagnosis and in 4 for elective treatment of PTL. Incidental PTL was associated with not performed FNA nor CoreNB (OR 52.5; P = 0.008), mucosa-associated lymphoid tissue (MALT) subtype (OR 24.3; P = 0.012), and Hashimoto's thyroiditis (OR 11.1; P = 0.032). Lymphoma-related death (10 cases) mostly occurred within the first year after diagnosis and was associated with diffuse large B-cell (DLBC) subtype (OR 10.3; P = 0.018) and older patients (OR 1.08 for every 1-year increase; P = 0.010). There was a trend towards lower mortality rate in patients receiving thyroidectomy (2/22 versus 8/32, P = 0.172). CONCLUSION: Incidental PTL accounts for most of thyroid surgery cases and are associated with incomplete diagnostic work-up, Hashimoto's thyroiditis and MALT subtype. CoreNB appears to be the best tool for diagnosis. Most of PTL deaths occurred during the first year after diagnosis and mostly related to systemic treatment. Age and DLBC subtype are poor prognostic factors.


Asunto(s)
Linfoma , Neoplasias de la Tiroides , Tiroiditis , Humanos , Estudios Retrospectivos
7.
Persoonia ; 51: 194-228, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38665982

RESUMEN

Black yeasts comprise a group of Ascomycota of the order Chaetothyriales with highly variable morphology, a great diversity of ecological niches and life cycles. Despite the ubiquity of these fungi, their diversity in freshwater sediments is still poorly understood. During a survey of culturable Ascomycota from river and stream sediments in various sampling sites in Spain, we obtained 47 isolates of black yeasts by using potato dextrose agar supplemented with cycloheximide. A preliminary morphological study and sequence analyses of the internal transcribed spacer region (ITS) and the large subunit (LSU) of the nuclear rDNA revealed that most of the isolates belonged to the family Herpotrichiellaceae. We have confidently identified 30 isolates representing the following species: Capronia pulcherrima, Cladophialophora emmonsii, Exophiala equina, Exophiala pisciphila, Exophiala radicis, and Phialophora americana. However, we encountered difficulty in assigning 17 cultures to any known species within Chaetothyriales. Combining phenotypic and multi-locus phylogenetic analyses based on the ITS, LSU, ß-tubulin (tub2) and translation elongation factor 1-α (tef1-α) gene markers, we propose the new genus Aciculomyces in the Herpotrichiellaceae to accommodate the novel species Aciculomyces restrictus. Other novel species in this family include Cladophialophora denticulata, Cladophialophora heterospora, Cladophialophora irregularis, Exophiala candelabrata, Exophiala dehoogii, Exophiala ramosa, Exophiala verticillata and Phialophora submersa. The new species Cyphellophora spiralis, closely related to Cyphellophora suttonii, is described, and the phylogeny of the genus Anthopsis in the family Cyphellophoraceae is discussed. By utilizing these four markers, we were able to strengthen the phylogenetic resolution and provide more robust taxonomic assessments within the studied group. Our findings indicate that freshwater sediments may serve as a reservoir for intriguing black yeasts, which warrant further investigation to address gaps in phylogenetic relationships, particularly within Herpotrichiellaceae. Citation: Torres-Garcia D, García D, Réblová M, et al. 2023. Diversity and novel lineages of black yeasts in Chaetothyriales from freshwater sediments in Spain. Persoonia 51: 194-228. doi: 10.3767/persoonia.2023.51.05.

8.
Actas Dermosifiliogr ; 114(9): T763-T771, 2023 Oct.
Artículo en Inglés, Español | MEDLINE | ID: mdl-37506824

RESUMEN

Acne fulminans is a severe and rare form of inflammatory acne. Lesion severity and subsequent scarring has a negative impact on the patient's quality of life. We conducted a narrative review of the literature on acne fulminans based on a search for relevant English- and Spanish-language articles published in Medline. We included case reports and case series. The main aim was to describe the clinical and demographic characteristics of patients with acne fulminans. A secondary aim was to determine whether quality of life was affected by the site or extent of lesions. We reviewed 91 articles describing 212 cases of acne fulminans. The mean age of the patients (91.94% male) was 16.6 years. A personal and family history of acne vulgaris was reported for 97.63% and 54.90% of patients, respectively. A trigger was identified in 44.79% of cases. The main cause was pharmacologic (96.63%) and the main drug isotretinoin (65.28%). The sites most often affected were the face (89.31%), the posterior trunk (77.86%), and the anterior trunk (74.81%). The predominant disease subtype was acne fulminans with systemic symptoms (59.12%), which were mostly general (97.06%). Systemic corticosteroids were the most widely used treatment (81.03%). The impact of the disease on quality of life was reported for two patients. In conclusion, acne fulminans mainly affects the face and trunk of male adolescents with a history of acne vulgaris. The main subtype was acne fulminans with systemic symptoms, and most patients were treated with systemic corticosteroids. The effect of acne fulminans on quality of life is under-reported.

9.
Actas Dermosifiliogr ; 114(9): 763-771, 2023 Oct.
Artículo en Inglés, Español | MEDLINE | ID: mdl-37245603

RESUMEN

Acne fulminans is a severe and rare form of inflammatory acne. Lesion severity and subsequent scarring has a negative impact on the patient's quality of life. We conducted a narrative review of the literature on acne fulminans based on a search for relevant English- and Spanish-language articles published in Medline. We included case reports and case series. The main aim was to describe the clinical and demographic characteristics of patients with acne fulminans. A secondary aim was to determine whether quality of life was affected by the site or extent of lesions. We reviewed 91 articles describing 212 cases of acne fulminans. The mean age of the patients (91.94% male) was 16.6 years. A personal and family history of acne vulgaris was reported for 97.63% and 54.90% of patients, respectively. A trigger was identified in 44.79% of cases. The main cause was pharmacologic (96.63%) and the main drug isotretinoin (65.28%). The sites most often affected were the face (89.31%), the posterior trunk (77.86%), and the anterior trunk (74.81%). The predominant disease subtype was acne fulminans with systemic symptoms (59.12%), which were mostly general (97.06%). Systemic corticosteroids were the most widely used treatment (81.03%). The impact of the disease on quality of life was reported for 2 patients. In conclusion, acne fulminans mainly affects the face and trunk of male adolescents with a history of acne vulgaris. The main subtype was acne fulminans with systemic symptoms, and most patients were treated with systemic corticosteroids. The effect of acne fulminans on quality of life is underreported.


Asunto(s)
Acné Vulgar , Calidad de Vida , Adolescente , Humanos , Masculino , Femenino , Acné Vulgar/tratamiento farmacológico , Acné Vulgar/epidemiología , Isotretinoína/uso terapéutico , Corticoesteroides/uso terapéutico
10.
Persoonia ; 51: 280-417, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38665977

RESUMEN

Novel species of fungi described in this study include those from various countries as follows: Argentina, Neocamarosporium halophilum in leaf spots of Atriplex undulata. Australia, Aschersonia merianiae on scale insect (Coccoidea), Curvularia huamulaniae isolated from air, Hevansia mainiae on dead spider, Ophiocordyceps poecilometigena on Poecilometis sp. Bolivia, Lecanora menthoides on sandstone, in open semi-desert montane areas, Sticta monlueckiorum corticolous in a forest, Trichonectria epimegalosporae on apothecia of corticolous Megalospora sulphurata var. sulphurata, Trichonectria puncteliae on the thallus of Punctelia borreri. Brazil, Catenomargarita pseudocercosporicola (incl. Catenomargarita gen. nov.) hyperparasitic on Pseudocercospora fijiensis on leaves of Musa acuminata, Tulasnella restingae on protocorms and roots of Epidendrum fulgens. Bulgaria, Anthracoidea umbrosae on Carex spp. Croatia, Hymenoscyphus radicis from surface-sterilised, asymptomatic roots of Microthlaspi erraticum, Orbilia multiserpentina on wood of decorticated branches of Quercus pubescens. France, Calosporella punctatispora on dead corticated twigs of Aceropalus. French West Indies (Martinique), Eutypella lechatii on dead corticated palm stem. Germany, Arrhenia alcalinophila on loamy soil. Iceland, Cistella blauvikensis on dead grass (Poaceae). India, Fulvifomes maritimus on living Peltophorum pterocarpum, Fulvifomes natarajanii on dead wood of Prosopis juliflora, Fulvifomes subazonatus on trunk of Azadirachta indica, Macrolepiota bharadwajii on moist soil near the forest, Narcissea delicata on decaying elephant dung, Paramyrothecium indicum on living leaves of Hibiscus hispidissimus, Trichoglossum syamviswanathii on moist soil near the base of a bamboo plantation. Iran, Vacuiphoma astragalicola from stem canker of Astragalus sarcocolla. Malaysia, Neoeriomycopsis fissistigmae (incl. Neoeriomycopsidaceae fam. nov.) on leaf spots on flower Fissistigma sp. Namibia, Exophiala lichenicola lichenicolous on Acarospora cf. luederitzensis. Netherlands, Entoloma occultatum on soil, Extremus caricis on dead leaves of Carex sp., Inocybe pseudomytiliodora on loamy soil. Norway, Inocybe guldeniae on calcareous soil, Inocybe rupestroides on gravelly soil. Pakistan, Hymenagaricus brunneodiscus on soil. Philippines, Ophiocordyceps philippinensis parasitic on Asilus sp. Poland, Hawksworthiomyces ciconiae isolated from Ciconia ciconia nest, Plectosphaerella vigrensis from leaf spots on Impatiens noli-tangere, Xenoramularia epitaxicola from sooty mould community on Taxus baccata. Portugal, Inocybe dagamae on clay soil. Saudi Arabia, Diaporthe jazanensis on branches of Coffea arabica. South Africa, Alternaria moraeae on dead leaves of Moraea sp., Bonitomyces buffels-kloofinus (incl. Bonitomyces gen. nov.) on dead twigs of unknown tree, Constrictochalara koukolii on living leaves of Itea rhamnoides colonised by a Meliola sp., Cylindromonium lichenophilum on Parmelina tiliacea, Gamszarella buffelskloofina (incl. Gamszarella gen. nov.) on dead insect, Isthmosporiella africana (incl. Isthmosporiella gen. nov.) on dead twigs of unknown tree, Nothoeucasphaeria buffelskloofina (incl. Nothoeucasphaeria gen. nov.), on dead twigs of unknown tree, Nothomicrothyrium beaucarneae (incl. Nothomicrothyrium gen. nov.) on dead leaves of Beaucarnea stricta, Paramycosphaerella proteae on living leaves of Protea caffra, Querciphoma foliicola on leaf litter, Rachicladosporium conostomii on dead twigs of Conostomium natalense var. glabrum, Rhamphoriopsis synnematosa on dead twig of unknown tree, Waltergamsia mpumalanga on dead leaves of unknown tree. Spain, Amanita fulvogrisea on limestone soil, in mixed forest, Amanita herculis in open Quercus forest, Vuilleminia beltraniae on Cistus symphytifolius. Sweden, Pachyella pulchella on decaying wood on sand-silt riverbank. Thailand, Deniquelata cassiae on dead stem of Cassia fistula, Stomiopeltis thailandica on dead twigs of Magnolia champaca. Ukraine, Circinaria podoliana on natural limestone outcrops, Neonematogonum carpinicola (incl. Neonematogonum gen. nov.) on dead branches of Carpinus betulus. USA, Exophiala wilsonii water from cooling tower, Hygrophorus aesculeticola on soil in mixed forest, and Neocelosporium aereum from air in a house attic. Morphological and culture characteristics are supported by DNA barcodes. Citation: Crous PW, Costa MM, Kandemir H, et al. 2023. Fungal Planet description sheets: 1550-1613. Persoonia 51: 280-417. doi: 10.3767/persoonia.2023.51.08.

11.
Br J Cancer ; 126(3): 391-400, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-35027672

RESUMEN

Cell-free DNA (cfDNA) analysis represents a promising method for the diagnosis, treatment selection and clinical follow-up of cancer patients. Although its general methodological feasibility and usefulness has been demonstrated, several issues related to standardisation and technical validation must be addressed for its routine clinical application in cancer. In this regard, most cfDNA clinical applications are still limited to clinical trials, proving its value in several settings. In this paper, we review the current clinical trials involving cfDNA/ctDNA analysis and highlight those where it has been useful for patient stratification, treatment follow-up or development of novel approaches for early diagnosis. Our query included clinical trials, including the terms 'cfDNA', 'ctDNA', 'liquid biopsy' AND 'cancer OR neoplasm' in the FDA and EMA public databases. We identified 1370 clinical trials (FDA = 1129, EMA = 241) involving liquid-biopsy analysis in cancer. These clinical trials show promising results for the early detection of cancer and confirm cfDNA as a tool for real-time monitoring of acquired therapy resistance, accurate disease-progression surveillance and improvement of treatment, situations that result in a better quality of life and extended overall survival for cancer patients.


Asunto(s)
Biomarcadores de Tumor/análisis , Ácidos Nucleicos Libres de Células/análisis , Ácidos Nucleicos Libres de Células/metabolismo , Ensayos Clínicos como Asunto/estadística & datos numéricos , Detección Precoz del Cáncer/métodos , Neoplasias/diagnóstico , Células Neoplásicas Circulantes/patología , Animales , Ácidos Nucleicos Libres de Células/genética , Humanos , Neoplasias/genética , Neoplasias/metabolismo , Medicina de Precisión
12.
Opt Express ; 30(22): 39382-39395, 2022 Oct 24.
Artículo en Inglés | MEDLINE | ID: mdl-36298892

RESUMEN

We demonstrate scattering control of Gaussian-like wave packets propagating with constant envelope velocity and invariant waist through coupled resonator optical waveguides (CROW) via an external resonator coupled to multiple sites of the CROW. We calculate the analytical reflectance and transmittance using standard scattering methods from waveguide quantum electrodynamics and show it is possible to approximate them for an external resonator detuned to the CROW. Our analytical and approximate results are in good agreement with numerical simulations. We engineer various configurations using an external resonator coupled to two sites of a CROW to show light trapping with effective exponential decay between the coupling sites, wave packet splitting into two pairs of identical Gaussian-like wave packets, and a non-local Mach-Zehnder interferometer.

13.
Osteoporos Int ; 33(5): 1177-1180, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-34741636

RESUMEN

Snyder-Robinson syndrome is an extremely rare genetic disorder, caused by mutations of the spermine synthase gene. We report a novel case of Snyder-Robinson syndrome, caused by a de novo mutation and first misdiagnosed with osteogenesis imperfecta. Clinical features, course, and genetic analysis are presented. The patient was treated with bisphosphonates for a decade, until developing an atypical femoral fracture. Teriparatide was then administered for 2 years and then changed to denosumab every 6 months, improving his bone density mass and preventing further fractures.


Asunto(s)
Discapacidad Intelectual Ligada al Cromosoma X , Osteogénesis Imperfecta , Espermina Sintasa , Diagnóstico Diferencial , Humanos , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Discapacidad Intelectual Ligada al Cromosoma X/genética , Osteogénesis Imperfecta/diagnóstico , Osteogénesis Imperfecta/tratamiento farmacológico , Osteogénesis Imperfecta/genética , Espermina Sintasa/genética
14.
Mol Psychiatry ; 26(5): 1659-1669, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-32076115

RESUMEN

Mechanisms of neuroimmune and mitochondrial dysfunction have been repeatedly implicated in autism spectrum disorder (ASD). To examine these mechanisms in ASD individuals, we measured the in vivo expression of the 18 kDa translocator protein (TSPO), an activated glial marker expressed on mitochondrial membranes. Participants underwent scanning on a simultaneous magnetic resonance-positron emission tomography (MR-PET) scanner with the second-generation TSPO radiotracer [11C]PBR28. By comparing TSPO in 15 young adult males with ASD with 18 age- and sex-matched controls, we showed that individuals with ASD exhibited lower regional TSPO expression in several brain regions, including the bilateral insular cortex, bilateral precuneus/posterior cingulate cortex, and bilateral temporal, angular, and supramarginal gyri, which have previously been implicated in autism in functional MR imaging studies. No brain region exhibited higher regional TSPO expression in the ASD group compared with the control group. A subset of participants underwent a second MR-PET scan after a median interscan interval of 3.6 months, and we determined that TSPO expression over this period of time was stable and replicable. Furthermore, voxelwise analysis confirmed lower regional TSPO expression in ASD at this later time point. Lower TSPO expression in ASD could reflect abnormalities in neuroimmune processes or mitochondrial dysfunction.


Asunto(s)
Trastorno del Espectro Autista , Receptores de GABA/genética , Trastorno del Espectro Autista/diagnóstico por imagen , Trastorno del Espectro Autista/genética , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Humanos , Espectroscopía de Resonancia Magnética , Masculino , Tomografía de Emisión de Positrones , Receptores de GABA/metabolismo , Adulto Joven
15.
J Microsc ; 288(2): 73-86, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-33119132

RESUMEN

INTRODUCTION: Real-Time Optical Vascular Imaging (RTOVI) is a technology developed in the Centre for Oral Clinical & Translational Sciences, within the Faculty of Dentistry, Oral & Craniofacial Sciences, King's College London, that allows rapid and preparation free, in vivo imaging of the microvascular anatomy of the human oral cavity. Microvascular changes are known to be related to disease subtypes, in particular cancer. This makes in vivo microvascular examination clinically valuable. However, at present there is lack of any analytical method able to objectively assess microvascular morphology images. DISCUSSION: The assessment of microvascular morphology based on a subjective evaluation was proven to be unreliable. There was a need to develop a software-based analysis for in vivo microvascular images to support the validation of RTOVI. This paper reviews the authors work to develop and test an automated microvascular analysis method for RTOVI based on ImageJ, an open-source software. This allowed to determined which parameters offered a more robust mathematical representation of the microvascular anatomy of the gingival margin, such as the mean area per capillary and mean aspect ratio. However, in vivo microvascular images from elsewhere within the oral cavity posed a bigger challenge to the analysis procedure due to the microvascular architectural complexity and poorer contrast. Angiogenesis Analyzer, a well-known ImageJ plugin used for the quantification of in vitro microvascular images, is under development in collaboration with the University of Paris Est Créteil. The aim of this work is to obtain an automated analysis method for in vivo microvascular images able to offer a solid foundation for the diagnostic potential of RTOVI and subsequent clinical integration of this technology. CONCLUSION: An automated analysis method for in vivo microvascular images is paramount before any attempt to clinically validate RTOVI. Our initial work of testing a software-based analysis demonstrated the effectiveness of some parameters, which is valuable for future work, and led us to move into a more sophisticated method involving customising the Angiogenesis Analyzer plugin. This is an essential step, aiming to extend the potential of in vivo microscopy with the clinical integration of RTOVI. LAY DESCRIPTION: This article summarises the initial research work done in the field on in vivo microvascular imaging aiming to develop a technique for the diagnosis of oral diseases based on the shape of small blood vessels found just below the surface of the "skin" inside the mouth. This offers the potential to examine lesions without the need to take a sample (biopsy/cutting tissue) to observe it microscopically. This ultimately offers a potential to accelerate diagnostic decision making, avoid unpleasant and often deterrent surgical procedures and reducing diagnostic laboratory time and cost burdens. However, in order to assess images of small blood vessels obtained in clinic, we needed to develop and test a software-based analysis to avoid the subjective human interpretation, known not to work. This article describes the authors journey to achieve an automated and sophisticated analysis method unique in the world for in vivo microvascular images derived from real-time optical vascular imaging.


Asunto(s)
Imagen Óptica , Humanos , Biopsia
16.
J Dairy Sci ; 105(9): 7446-7461, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35931483

RESUMEN

Biohydrogenation-induced milk fat depression (MFD) is a reduction in milk fat synthesis caused by bioactive fatty acids (FA) produced during altered ruminal microbial metabolism of unsaturated FA. The methionine analog 2-hydroxy-4-(methylthio)butanoate (HMTBa) has been shown to reduce the shift to the alternate biohydrogenation pathway and maintain higher milk fat yield in high-producing cows fed diets lower in fiber and higher in unsaturated FA. The objective of this experiment was to verify the effect of HMTBa on biohydrogenation-induced MFD and investigate associated changes in rumen environment and fermentation. Twenty-two rumen cannulated high-producing Holstein cows [168 ± 66 d in milk; 42 ± 7 kg of milk/d (mean ± standard deviation)] were used in a randomized design performed in 2 blocks (1 = 14 cows, 2 = 8 cows). Treatments were control (corn carrier) and HMTBa (0.1% of diet dry matter). The experiment included a 7-d covariate period followed by 3 phases that fed diets with increasing risk of MFD. The diet during the covariate and low-risk phase (7 d) was 32% neutral detergent fiber with no additional oil. The diet during the moderate-risk phase (17 d) was 29% neutral detergent fiber with 0.75% soybean oil. Soybean oil was increased to 1.5% for the last 4 d. The statistical model included the random effect of block and time course data were analyzed with repeated measures including the random effect of cow and tested the interaction of treatment and time. There was no effect of block or interaction of block and treatment or time. There was no overall effect of treatment or treatment by time interaction for dry matter intake, milk yield, and milk protein concentration and yield. Overall, HMTBa increased milk fat percent (3.2 vs. 3.6%) and yield (1,342 vs. 1,543 g/d) and there was no interaction of treatment and dietary phase. Additionally, HMTBa decreased the concentration of trans-10 18:1 in milk fat and rumen digesta. Average total ruminal concentration of volatile FA across the day and total-tract dry matter and fiber digestibility were not affected by HMTBa, but HMTBa increased average rumen butyrate and decreased propionate concentration and increased total protozoa abundance. Additionally, HMTBa increased the fractional rate of α-linoleic acid clearance from the rumen following a bolus predominantly driven by a difference in the first 30 min. Plasma insulin was decreased by HMTBa. In conclusion, HMTBa prevented the increase in trans FA in milk fat associated with MFD through a mechanism that is independent of total volatile FA concentration, but involves modification of rumen biohydrogenation. Decreased propionate and increased butyrate and ruminal protozoa may also have functional roles in the mechanism.


Asunto(s)
Lactancia , Metionina , Leche , Rumen , Alimentación Animal/análisis , Animales , Butiratos/metabolismo , Bovinos , Detergentes/metabolismo , Dieta/veterinaria , Fibras de la Dieta/metabolismo , Ácidos Grasos/metabolismo , Ácidos Grasos Insaturados/metabolismo , Ácidos Grasos Volátiles/metabolismo , Femenino , Fermentación , Metionina/análogos & derivados , Propionatos/metabolismo , Rumen/metabolismo , Rumen/parasitología , Aceite de Soja/metabolismo
17.
J Helminthol ; 96: e21, 2022 Mar 17.
Artículo en Inglés | MEDLINE | ID: mdl-35297359

RESUMEN

Polycystic echinococcosis (PE) is a zoonosis endemic in the Neotropical region of the Americas. It is caused by the larval stage of the cestode Echinococcus vogeli, which develops as harmful cysts that slowly grow in the liver, lungs and other organs of humans and other host species. Human PE diagnosis is usually based on clinical and epidemiological aspects and imaging techniques, often requiring confirmation by immunological assays. The currently available serological tests for detecting antibodies against Echinococcus spp. are mostly based on complex, variable and poorly characterized mixtures of native parasite antigens, which impairs specificity and/or sensitivity. In this scenario, the evaluation of well-characterized alternative antigens is urgently needed for the improvement of PE diagnosis. Here, two subunits (AgB8/1 and AgB8/2) of the major secretory antigen from Echinococcus granulosus (antigen B (AgB)), of diagnostic value for cystic echinococcosis, were validated for PE diagnosis. These antigens, produced as pure recombinant proteins (rAgB8/1 and rAgB8/2) in Escherichia coli, allowed detecting specific immunoglobulin G antibodies in sera from PE patients in an enzyme-linked immunosorbent assay, with sensitivities of 83.72% and 81.40%, respectively, and specificities of 83.12% and 80.09%, respectively. The use of recombinant proteins overcomes difficulties to obtain parasite material and reduced non-specific reactions and costs. Our results demonstrated reproducibility and accuracy high enough to be considered valid according to the acceptance criteria for Food and Drug Administration assay validation. This qualifies rAgB8/1 and rAgB8/2 as potential substitutes for the currently used parasite crude or partially purified antigens.


Asunto(s)
Antígenos Heterófilos , Equinococosis , Animales , Anticuerpos Antihelmínticos , Antígenos Helmínticos/genética , Equinococosis/parasitología , Humanos , Reproducibilidad de los Resultados
18.
Persoonia ; 48: 261-371, 2022 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38234686

RESUMEN

Novel species of fungi described in this study include those from various countries as follows: Australia, Agaricus albofoetidus, Agaricus aureoelephanti and Agaricus parviumbrus on soil, Fusarium ramsdenii from stem cankers of Araucaria cunninghamii, Keissleriella sporoboli from stem of Sporobolus natalensis, Leptosphaerulina queenslandica and Pestalotiopsis chiaroscuro from leaves of Sporobolus natalensis, Serendipita petricolae as endophyte from roots of Eriochilus petricola, Stagonospora tauntonensis from stem of Sporobolus natalensis, Teratosphaeria carnegiei from leaves of Eucalyptus grandis × E. camaldulensis and Wongia ficherai from roots of Eragrostis curvula. Canada, Lulworthia fundyensis from intertidal wood and Newbrunswickomyces abietophilus (incl. Newbrunswickomyces gen. nov.) on buds of Abies balsamea. Czech Republic, Geosmithia funiculosa from a bark beetle gallery on Ulmus minor and Neoherpotrichiella juglandicola (incl. Neoherpotrichiella gen. nov.) from wood of Juglans regia. France, Aspergillus rouenensis and Neoacrodontium gallica (incl. Neoacrodontium gen. nov.) from bore dust of Xestobium rufovillosum feeding on Quercus wood, Endoradiciella communis (incl. Endoradiciella gen. nov.) endophytic in roots of Microthlaspi perfoliatum and Entoloma simulans on soil. India, Amanita konajensis on soil and Keithomyces indicus from soil. Israel, Microascus rothbergiorum from Stylophora pistillata. Italy, Calonarius ligusticus on soil. Netherlands, Appendopyricularia juncicola (incl. Appendopyricularia gen. nov.), Eriospora juncicola and Tetraploa juncicola on dead culms of Juncus effusus, Gonatophragmium physciae on Physcia caesia and Paracosmospora physciae (incl. Paracosmospora gen. nov.) on Physcia tenella, Myrmecridium phragmitigenum on dead culm of Phragmites australis, Neochalara lolae on stems of Pteridium aquilinum, Niesslia nieuwwulvenica on dead culm of undetermined Poaceae, Nothodevriesia narthecii (incl. Nothodevriesia gen. nov.) on dead leaves of Narthecium ossifragum and Parastenospora pini (incl. Parastenospora gen. nov.) on dead twigs of Pinus sylvestris. Norway, Verticillium bjoernoeyanum from sand grains attached to a piece of driftwood on a sandy beach. Portugal, Collybiopsis cimrmanii on the base of living Quercus ilex and amongst dead leaves of Laurus and herbs. South Africa, Paraproliferophorum hyphaenes (incl. Paraproliferophorum gen. nov.) on living leaves of Hyphaene sp. and Saccothecium widdringtoniae on twigs of Widdringtonia wallichii. Spain, Cortinarius dryosalor on soil, Cyphellophora endoradicis endophytic in roots of Microthlaspi perfoliatum, Geoglossum lauri-silvae on soil, Leptographium gemmatum from fluvial sediments, Physalacria auricularioides from a dead twig of Castanea sativa, Terfezia bertae and Tuber davidlopezii in soil. Sweden, Alpova larskersii, Inocybe alpestris and Inocybe boreogodeyi on soil. Thailand, Russula banwatchanensis, Russula purpureoviridis and Russula lilacina on soil. Ukraine, Nectriella adonidis on overwintered stems of Adonis vernalis. USA, Microcyclus jacquiniae from living leaves of Jacquinia keyensis and Penicillium neoherquei from a minute mushroom sporocarp. Morphological and culture characteristics are supported by DNA barcodes. Citation: Crous PW, Boers J, Holdom D, et al. 2022. Fungal Planet description sheets: 1383-1435. Persoonia 48: 261-371. https://doi.org/10.3767/persoonia.2022.48.08.

19.
Hum Reprod ; 36(8): 2148-2156, 2021 07 19.
Artículo en Inglés | MEDLINE | ID: mdl-34143887

RESUMEN

STUDY QUESTION: Can sperm donation increase live birth rates following ICSI in advanced maternal age (AMA) patients? SUMMARY ANSWER: Sperm donation increases the live birth rate in AMA ICSI cycles. WHAT IS KNOWN ALREADY: In ICSI practice, sperm donation has been predominantly applied to overcome male infertility. The involvement of paternal age and lower sperm quality in the severe reduction in fertility observed in AMA patients remains to be clarified. STUDY DESIGN, SIZE, DURATION: Retrospective multicenter cohort study including data generated between 2015 and 2019 from 755 ICSI cycles achieving a fresh embryo transfer, of which 337 were first homologous cycles (normozoospermic partner sperm and homologous oocytes) and 418 were first sperm donation cycles (donor sperm and homologous oocytes). The association of sperm origin (partner vs donor) with live birth was assessed by multivariate analysis in non-AMA (<37 years, n = 278) and AMA (≥37 years, n = 477) patients, separately, including in the model all variables previously found to be associated with live birth in a univariate analysis (number of MII oocytes recovered, number of embryos transferred, and maternal age). ICSI outcomes were compared between sperm donation and homologous cycles in overall, non-AMA and AMA patients. PARTICIPANTS/MATERIALS, SETTING, METHODS: The study was conducted in three fertility clinics and included 755 Caucasian patients aged 24-42 years undergoing their first homologous or sperm donation ICSI cycle achieving a fresh embryo transfer. MAIN RESULTS AND THE ROLE OF CHANCE: The multivariate analysis revealed that sperm donation was positively associated with the likelihood of a live birth independently of all other variables tested in AMA (P = 0.02), but not in non-AMA patients. Live birth, delivery, and miscarriage rates differed substantially between sperm donation and homologous AMA cycles; live birth and delivery rates were 70-75% higher (25.4% vs 14.5% and 22.5% vs 13.5%, respectively; P < 0.01), while miscarriage occurrence was less than half (18.0% vs 39.5%; P < 0.01) in sperm donation compared to homologous AMA cycles. LIMITATIONS, REASONS FOR CAUTION: This study is limited by its retrospective nature, differences in patients profiles between sperm donation and homologous-control groups and varying proportion of donor cycles between fertility centers, although these variations have been controlled for in the statistical analysis. WIDER IMPLICATIONS OF THE FINDINGS: The findings suggest that sperm donation increases live birth rates while reducing miscarriage occurrence in AMA patients, and thus may be a valid strategy to improve ICSI outcomes in this growing and challenging patient group. STUDY FUNDING/COMPETING INTEREST(S): N/A. TRIAL REGISTRATION NUMBER: N/A.


Asunto(s)
Tasa de Natalidad , Inyecciones de Esperma Intracitoplasmáticas , Adulto , Estudios de Cohortes , Femenino , Fertilización In Vitro , Humanos , Nacimiento Vivo , Masculino , Edad Materna , Embarazo , Índice de Embarazo , Estudios Retrospectivos , Espermatozoides
20.
Eur J Neurol ; 28(2): 459-468, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33051953

RESUMEN

BACKGROUND AND PURPOSE: Impulse control disorders (ICDs) are frequent in Parkinson's disease (PD), with associated clinical and genetic risk factors. This study was aimed at analyzing the clinical features and the genetic background that underlie ICDs in PD. METHODS: We included 353 patients with PD in this study (58.9% men, mean age 62.4 ± 10.58 years, mean age at disease onset 52.71 ± 11.94 years). We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease for ICDs screening. Motor, nonmotor, and treatment-related features were evaluated according to the presence of ICDs. Twenty-one variants related to dopaminergic, serotonergic, glutamatergic, and opioid neurotransmitter systems were assessed. Association studies between polymorphisms and ICDs were performed. The combination of clinical and genetic variables was analyzed with receiver operating characteristic curves to assess the predictability of experiencing ICDs. RESULTS: Impulse control disorders appeared in 25.1% of the cases. Patients with ICDs were younger and presented a higher rate of anxiety. Treatment with dopamine agonists increased the risk of ICDs and it was dose dependent (P < 0.05). Genetic association studies showed that the DOPA decarboxylase gene (DDC), rs1451375, might modulate the risk of ICDs. Plotting the clinical-genetic model, the predictability of ICDs increased 11% (area under curve = 0.80; z = 3.22, P = 0.001) when adding the genotype data for single nucleotide polymorphisms. CONCLUSIONS: Polymorphisms in DDC might act as risk markers for ICDs in PD. The predictability of experiencing ICDs increased by adding genetic factors to clinical features. It is therefore important to assess the patient's genetic background to identify individuals at risk for ICDs.


Asunto(s)
Trastornos Disruptivos, del Control de Impulso y de la Conducta , Enfermedad de Parkinson , Anciano , Trastornos Disruptivos, del Control de Impulso y de la Conducta/epidemiología , Trastornos Disruptivos, del Control de Impulso y de la Conducta/genética , Dopamina , Agonistas de Dopamina , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple
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