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1.
Hepatology ; 2024 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-39316699

RESUMEN

Determining suitable copper parameters for monitoring Wilson disease remains a topic of ongoing discussion. International recommendations currently rely on the combination of urinary copper excretion and non-specific liver markers when considering therapy and time elapsed since diagnosis. The emergence of exchangeable copper (CuEX) as a novel measurement reflecting the "free copper pool" held promise as a valuable target to ensure metabolic stability during follow-up, although validation of target ranges remain unknown. We aimed at evaluating CuEX quantification in repeated samples from 92 real-world WD patients during a 2-year period. Patients were classified as "stable" if diagnosis had been made more than one year before and were compliant to stable anti-copper drug and dose. Otherwise, patients were classified as "non-stable". Two-hundred and thirteen CuEX samples were obtained per clinical practice. Overall, 57% of CuEX measurements fell below the reference "range of normality", whereas only 34% were within and 9% were above normal levels. There was no association of CuEX levels with therapy, elapsed time from diagnosis or clinical stability, although most of the samples above normality corresponded to non-stable patients. Only 23.4% of the CuEX samples were aligned with data obtained from concomitant urinary copper excretion. Our findings suggest that CuEX is a suboptimal tool for assessing copper homeostasis when used alone and should be used with caution if no additional information is available. Normal reference intervals for WD-treated patients should be redefined, as most of CuEX quantifications fell in the lower range, with no sign of overtreatment in these patients.

2.
Case Rep Oncol ; 17(1): 818-830, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39144242

RESUMEN

Introduction: Nephroblastoma, or Wilms' tumor, is a malignant renal neoplasm commonly found in children, is extremely rare in adults representing only 0.5% of all renal neoplasms. Adult Wilms tumor is rare, to our knowledge fewer than 300 cases have been reported in the English literature to date. However, in older adults after 60 years of age, only less than 45 cases have been reported. For this reason, treatment guidelines in adults still are lacking. Prognosis in nephroblastoma for adult patients is found to be worse than in children. Case Presentation: We report the case of a 65-year-old female with lumbar fossa mass, flank pain and hematuria, and pathologic diagnosis of Wilms tumor. We performed nephrectomy. No adjuvant treatment was given. Our patient remains asymptomatic and without evidence of recurrence 12 months after the surgery. Conclusion: Nephroblastoma in the elderly presents different clinical behavior and prognosis compared to nephroblastoma in children.

3.
Lancet Glob Health ; 12(9): e1400-e1412, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39151976

RESUMEN

BACKGROUND: Key population HIV programmes in sub-Saharan Africa require epidemiological information to ensure equitable and universal access to effective services. We aimed to consolidate and harmonise survey data among female sex workers, men who have sex with men, people who inject drugs, and transgender people to estimate key population size, HIV prevalence, and antiretroviral therapy (ART) coverage for countries in mainland sub-Saharan Africa. METHODS: Key population size estimates, HIV prevalence, and ART coverage data from 39 sub-Saharan Africa countries between 2010 and 2023 were collated from existing databases and verified against source documents. We used Bayesian mixed-effects spatial regression to model urban key population size estimates as a proportion of the gender-matched, year-matched, and area-matched population aged 15-49 years. We modelled subnational key population HIV prevalence and ART coverage with age-matched, gender-matched, year-matched, and province-matched total population estimates as predictors. FINDINGS: We extracted 2065 key population size data points, 1183 HIV prevalence data points, and 259 ART coverage data points. Across national urban populations, a median of 1·65% (IQR 1·35-1·91) of adult cisgender women were female sex workers, 0·89% (0·77-0·95) were men who have sex with men, 0·32% (0·31-0·34) were men who injected drugs, and 0·10% (0·06-0·12) were women who were transgender. HIV prevalence among key populations was, on average, four to six times higher than matched total population prevalence, and ART coverage was correlated with, but lower than, the total population ART coverage with wide heterogeneity in relative ART coverage across studies. Across sub-Saharan Africa, key populations were estimated as comprising 1·2% (95% credible interval 0·9-1·6) of the total population aged 15-49 years but 6·1% (4·5-8·2) of people living with HIV. INTERPRETATION: Key populations in sub-Saharan Africa experience higher HIV prevalence and lower ART coverage, underscoring the need for focused prevention and treatment services. In 2024, limited data availability and heterogeneity constrain precise estimates for programming and monitoring trends. Strengthening key population surveys and routine data within national HIV strategic information systems would support more precise estimates. FUNDING: UNAIDS, Bill & Melinda Gates Foundation, and US National Institutes of Health.


Asunto(s)
Infecciones por VIH , Humanos , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/epidemiología , África del Sur del Sahara/epidemiología , Femenino , Adulto , Masculino , Prevalencia , Adolescente , Adulto Joven , Persona de Mediana Edad , Trabajadores Sexuales/estadística & datos numéricos , Densidad de Población , Antirretrovirales/uso terapéutico , Personas Transgénero/estadística & datos numéricos , Teorema de Bayes , Homosexualidad Masculina/estadística & datos numéricos
4.
Int J Mol Sci ; 25(14)2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-39062860

RESUMEN

The actions of the retinoic acid nuclear receptor gamma (RARγ) agonist, palovarotene, on pre-existing osteochondromas were investigated using a mouse multiple osteochondroma model. This approach was based on the knowledge that patients often present to the clinic after realizing the existence of osteochondroma masses, and the findings from preclinical investigations are the effects of drugs on the initial formation of osteochondromas. Systemic administration of palovarotene, with increased doses (from 1.76 to 4.0 mg/kg) over time, fully inhibited tumor growth, keeping the tumor size (0.31 ± 0.049 mm3) similar to the initial size (0.27 ± 0.031 mm3, p = 0.66) while the control group tumor grew (1.03 ± 0.23 mm3, p = 0.023 to the drug-treated group). Nanoparticle (NP)-based local delivery of the RARγ agonist also inhibited the growth of osteochondromas at an early stage (Control: 0.52 ± 0.11 mm3; NP: 0.26 ± 0.10, p = 0.008). Transcriptome analysis revealed that the osteoarthritis pathway was activated in cultured chondrocytes treated with palovarotene (Z-score = 2.29), with the upregulation of matrix catabolic genes and the downregulation of matrix anabolic genes, consistent with the histology of palovarotene-treated osteochondromas. A reporter assay performed in cultured chondrocytes demonstrated that the Stat3 pathway, but not the Stat1/2 pathway, was stimulated by RARγ agonists. The activation of Stat3 by palovarotene was confirmed using immunoblotting and immunohistochemistry. These findings suggest that palovarotene treatment is effective against pre-existing osteochondromas and that the Stat3 pathway is involved in the antitumor actions of palovarotene.


Asunto(s)
Condrocitos , Modelos Animales de Enfermedad , Osteocondroma , Receptores de Ácido Retinoico , Receptor de Ácido Retinoico gamma , Animales , Ratones , Receptores de Ácido Retinoico/agonistas , Receptores de Ácido Retinoico/metabolismo , Osteocondroma/tratamiento farmacológico , Osteocondroma/patología , Osteocondroma/metabolismo , Condrocitos/metabolismo , Condrocitos/efectos de los fármacos , Condrocitos/patología , Factor de Transcripción STAT3/metabolismo , Proliferación Celular/efectos de los fármacos , Neoplasias Óseas/tratamiento farmacológico , Neoplasias Óseas/patología , Neoplasias Óseas/metabolismo , Masculino
5.
Med Clin (Barc) ; 2024 Jul 02.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38960792

RESUMEN

BACKGROUND: Mechanical thrombectomy is a useful technique in patients with high-risk pulmonary embolism. It is indicated as an alternative to systemic fibrinolysis when it is contraindicated or as an adjuvant therapy when it fails. OBJECTIVE: To describe clinical characteristics, evolution and survival of patients with high-risk pulmonary embolism who have undergone mechanical thrombectomy. METHOD: Single-center retrospective descriptive study of consecutive patients who underwent mechanical thrombectomy. Demographic, clinical and survival variables were analyzed. RESULTS: 9 patients were included (56% men, 44% women). All patients had pulmonary artery pressure assessed using a Swan-Ganz catheter before thrombectomy. The median pulmonary artery pressure before the procedure was 46mmHg (51-38mmHg). Systemic fibrinolysis was also performed in 5 cases, in 2 of them in the setting of cardiorespiratory arrest, without hemorrhagic complications. No patient died during hospitalization. Survival one month after the procedure was 100%. CONCLUSIONS: In our series, mechanical thrombectomy is a useful technique as an alternative to systemic fibrinolysis or as an adjuvant therapy to it.

6.
J Clin Med ; 13(13)2024 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-38999393

RESUMEN

Background: Early discharge following ST-segment-elevation myocardial infarction (STEMI) confers notable advantages for both patients and healthcare systems. However, the adoption of a very early discharge strategy for selected patients remains limited due to safety considerations. We aimed to provide some insight into the safety of a discharge program with a hospital stay lasting <48 h after a primary percutaneous coronary intervention (PCI). Methods: Using a registry of 1105 patients undergoing primary PCI for STEMI in our hospital between January 2015 and October 2023, we enrolled all the patients who had a hospital stay ≤48 h, according to a prespecified institutional protocol. The primary objective was a combined rate of non-fatal stroke, non-fatal acute myocardial infarction, or cardiovascular death within 30 days of discharge. Emergency department visits or hospitalizations due to cardiovascular causes, along with the all-cause mortality, were measured during the same period. Results: A total of 453 (41%) patients were discharged ≤48 h after admission for a STEMI. The mean age was 62.4 (±12.5 years), 24.3% were women, and 17.9% were people with diabetes. Up to 96% of the procedures had been performed through radial artery access, and there were no major vascular complications. Regarding the primary endpoint, there was one event (0.2%; one patient suffered a non-fatal myocardial infarction). There were no cardiovascular deaths or deaths from other causes. Only five patients (1.1%) were re-hospitalized or visited the emergency department due to cardiovascular causes. Conclusions: An early discharge strategy for patients within 48 h of experiencing STEMI and undergoing primary PCI appears feasible and safe.

7.
Artículo en Inglés | MEDLINE | ID: mdl-38720450

RESUMEN

BACKGROUND & AIMS: Several hepatocellular carcinoma (HCC) risk-models have been developed to individualise patient surveillance following sustained viral response (SVR) in Hepatitis C Virus patients. Validation of these models in different cohorts is an important step to incorporate a more personalised risk assessment in clinical practice. We aimed at applying these models to stratify the risk in our patients and potentially determine cost-saving associated with individualised HCC risk-stratification screening strategy. METHODS: Patients with baseline F3-4 fibrosis treated with new oral direct-acting antivirals who had reached a SVR were regularly followed as part of the HCC surveillance strategy. Six models were applied: Pons, aMAP, Ioannou, HCC risk, Alonso and Semmler. Validation of the models was performed based on sensitivity and the proportion of patients labelled as "high risk". RESULTS: After excluding 557 with less than 3 fibrosis, 12 without SVR, 18 with a follow up (FU) <1 year, 17 transplant recipients, 16 lost to FU and 31 with HCC at time of antiviral therapy, our cohort consisted of 349 F3-4 SVR patients. Twenty-three patients (6.6%) developed HCC after a median FU of 5.12 years. The sensitivity of the different models varied between 0.17 (Semmler7noalcohol) and 1 (Alonso A and aMAP). The lowest proportion of high-risk patients corresponded to the Semmler-noalcohol model (5%). Sixty-three and 90% of the Alonso A and aMAP patients, respectively were labelled as high risk. The most reliable HCC risk-model applied to our cohort to predict HCC development is the Alonso model (based on fibrosis stage assessed by liver stiffness measurements or Fibrosis-4 index (FIB-4) at baseline and after 1 year, and albumin levels at 1 year) with a-100% sensitivity in detecting HCC among those at high risk and 63% labelled as high risk. The application of the model would have saved the cost of 1290 ultrasound no longer being performed in the 37% low-risk group. CONCLUSION: In our cohort, the Alonso A model allows the most reliable reduction in HCC screening resulting in safely stopping life-long monitoring in about a third of F3-F4 patients achieving SVR with DAAs.

8.
Hepatology ; 80(3): 621-632, 2024 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-38441908

RESUMEN

BACKGROUND AND AIMS: Alcohol relapse after surviving an episode of alcohol-associated hepatitis (AH) is common. However, the clinical features, risk factors, and prognostic implications of recurrent alcohol-associated hepatitis (RAH) are not well described. APPROACH AND RESULTS: A registry-based study was done of patients admitted to 28 Spanish hospitals for an episode of AH between 2014 and 2021. Baseline demographics and laboratory variables were collected. Risk factors for RAH were investigated using Cox regression analysis. We analyzed the severity of the index episodes of AH and compared it to that of RAH. Long-term survival was assessed by Kaplan-Meier curves and log-rank tests. A total of 1118 patients were included in the analysis, 125 (11%) of whom developed RAH during follow-up (median: 17 [7-36] months). The incidence of RAH in patients resuming alcohol use was 22%. The median time to recurrence was 14 (8-29) months. Patients with RAH had more psychiatric comorbidities. Risk factors for developing RAH included age <50 years, alcohol use >10 U/d, and history of liver decompensation. RAH was clinically more severe compared to the first AH (higher MELD, more frequent ACLF, and HE). Moreover, alcohol abstinence during follow-up was less common after RAH (18% vs. 45%, p <0.001). Most importantly, long-term mortality was higher in patients who developed RAH (39% vs. 21%, p = 0.026), and presenting with RAH independently predicted high mortality (HR: 1.55 [1.11-2.18]). CONCLUSIONS: RAH is common and has a more aggressive clinical course, including increased mortality. Patients surviving an episode of AH should undergo intense alcohol use disorder therapy to prevent RAH.


Asunto(s)
Hepatitis Alcohólica , Recurrencia , Sistema de Registros , Humanos , Masculino , Femenino , Persona de Mediana Edad , Hepatitis Alcohólica/mortalidad , Factores de Riesgo , Adulto , España/epidemiología , Sistema de Registros/estadística & datos numéricos , Índice de Severidad de la Enfermedad , Incidencia , Pronóstico , Anciano
9.
Mol Biol Evol ; 41(3)2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38306580

RESUMEN

Although both are salient features of genomes, at first glance ribosomal DNAs and transposable elements are genetic elements with not much in common: whereas ribosomal DNAs are mainly viewed as housekeeping genes that uphold all prime genome functions, transposable elements are generally portrayed as selfish and disruptive. These opposing characteristics are also mirrored in other attributes: organization in tandem (ribosomal DNAs) versus organization in a dispersed manner (transposable elements); evolution in a concerted manner (ribosomal DNAs) versus evolution by diversification (transposable elements); and activity that prolongs genomic stability (ribosomal DNAs) versus activity that shortens it (transposable elements). Re-visiting relevant instances in which ribosomal DNA-transposable element interactions have been reported, we note that both repeat types share at least four structural and functional hallmarks: (1) they are repetitive DNAs that shape genomes in evolutionary timescales, (2) they exchange structural motifs and can enter co-evolution processes, (3) they are tightly controlled genomic stress sensors playing key roles in senescence/aging, and (4) they share common epigenetic marks such as DNA methylation and histone modification. Here, we give an overview of the structural, functional, and evolutionary characteristics of both ribosomal DNAs and transposable elements, discuss their roles and interactions, and highlight trends and future directions as we move forward in understanding ribosomal DNA-transposable element associations.


Asunto(s)
Elementos Transponibles de ADN , Genómica , ADN Ribosómico , Metilación de ADN , Análisis Citogenético , Evolución Molecular
10.
J Acquir Immune Defic Syndr ; 95(1S): e34-e45, 2024 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-38180737

RESUMEN

BACKGROUND: Previously, The Joint United Nations Programme on HIV/AIDS estimated proportions of adult new HIV infections among key populations (KPs) in the last calendar year, globally and in 8 regions. We refined and updated these, for 2010 and 2022, using country-level trend models informed by national data. METHODS: Infections among 15-49 year olds were estimated for sex workers (SWs), male clients of female SW, men who have sex with men (MSM), people who inject drugs (PWID), transgender women (TGW), and non-KP sex partners of these groups. Transmission models used were Goals (71 countries), AIDS Epidemic Model (13 Asian countries), Optima (9 European and Central Asian countries), and Thembisa (South Africa). Statistical Estimation and Projection Package fits were used for 15 countries. For 40 countries, new infections in 1 or more KPs were approximated from first-time diagnoses by the mode of transmission. Infection proportions among nonclient partners came from Goals, Optima, AIDS Epidemic Model, and Thembisa. For remaining countries and groups not represented in models, median proportions by KP were extrapolated from countries modeled within the same region. RESULTS: Across 172 countries, estimated proportions of new adult infections in 2010 and 2022 were both 7.7% for SW, 11% and 20% for MSM, 0.72% and 1.1% for TGW, 6.8% and 8.0% for PWID, 12% and 10% for clients, and 5.3% and 8.2% for nonclient partners. In sub-Saharan Africa, proportions of new HIV infections decreased among SW, clients, and non-KP partners but increased for PWID; elsewhere these groups' 2010-to-2022 differences were opposite. For MSM and TGW, the proportions increased across all regions. CONCLUSIONS: KPs continue to have disproportionately high HIV incidence.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Infecciones por VIH , Minorías Sexuales y de Género , Abuso de Sustancias por Vía Intravenosa , Adulto , Femenino , Masculino , Humanos , Infecciones por VIH/epidemiología , Homosexualidad Masculina
11.
J Acquir Immune Defic Syndr ; 95(1S): e59-e69, 2024 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-38180739

RESUMEN

BACKGROUND: Key populations (KPs), including female sex workers (FSWs), gay men and other men who have sex with men (MSM), people who inject drugs (PWID), and transgender women (TGW) experience disproportionate risks of HIV acquisition. The UNAIDS Global AIDS 2022 Update reported that one-quarter of all new HIV infections occurred among their non-KP sexual partners. However, this fraction relied on heuristics regarding the ratio of new infections that KPs transmitted to their non-KP partners to the new infections acquired among KPs (herein referred to as "infection ratios"). We recalculated these ratios using dynamic transmission models. SETTING: One hundred seventy-eight settings (106 countries). METHODS: Infection ratios for FSW, MSM, PWID, TGW, and clients of FSW were estimated from 12 models for 2020. RESULTS: Median model estimates of infection ratios were 0.7 (interquartile range: 0.5-1.0; n = 172 estimates) and 1.2 (0.8-1.8; n = 127) for acquisitions from FSW clients and transmissions from FSW to all their non-KP partners, respectively, which were comparable with the previous UNAIDS assumptions (0.2-1.5 across regions). Model estimates for female partners of MSM were 0.5 (0.2-0.8; n = 20) and 0.3 (0.2-0.4; n = 10) for partners of PWID across settings in Eastern and Southern Africa, lower than the corresponding UNAIDS assumptions (0.9 and 0.8, respectively). The few available model estimates for TGW were higher [5.1 (1.2-7.0; n = 8)] than the UNAIDS assumptions (0.1-0.3). Model estimates for non-FSW partners of FSW clients in Western and Central Africa were high (1.7; 1.0-2.3; n = 29). CONCLUSIONS: Ratios of new infections among non-KP partners relative to KP were high, confirming the importance of better addressing prevention and treatment needs among KP as central to reducing overall HIV incidence.


Asunto(s)
Infecciones por VIH , Trabajadores Sexuales , Minorías Sexuales y de Género , Abuso de Sustancias por Vía Intravenosa , Masculino , Humanos , Femenino , Infecciones por VIH/epidemiología , Homosexualidad Masculina
12.
Mol Biol Evol ; 41(2)2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38262464

RESUMEN

The 5S rRNA genes are among the most conserved nucleotide sequences across all species. Similar to the 5S preservation we observe the occurrence of 5S-related nonautonomous retrotransposons, so-called Cassandras. Cassandras harbor highly conserved 5S rDNA-related sequences within their long terminal repeats, advantageously providing them with the 5S internal promoter. However, the dynamics of Cassandra retrotransposon evolution in the context of 5S rRNA gene sequence information and structural arrangement are still unclear, especially: (1) do we observe repeated or gradual domestication of the highly conserved 5S promoter by Cassandras and (2) do changes in 5S organization such as in the linked 35S-5S rDNA arrangements impact Cassandra evolution? Here, we show evidence for gradual co-evolution of Cassandra sequences with their corresponding 5S rDNAs. To follow the impact of 5S rDNA variability on Cassandra TEs, we investigate the Asteraceae family where highly variable 5S rDNAs, including 5S promoter shifts and both linked and separated 35S-5S rDNA arrangements have been reported. Cassandras within the Asteraceae mirror 5S rDNA promoter mutations of their host genome, likely as an adaptation to the host's specific 5S transcription factors and hence compensating for evolutionary changes in the 5S rDNA sequence. Changes in the 5S rDNA sequence and in Cassandras seem uncorrelated with linked/separated rDNA arrangements. We place all these observations into the context of angiosperm 5S rDNA-Cassandra evolution, discuss Cassandra's origin hypotheses (single or multiple) and Cassandra's possible impact on rDNA and plant genome organization, giving new insights into the interplay of ribosomal genes and transposable elements.


Asunto(s)
ARN Ribosómico 5S , Retroelementos , ARN Ribosómico 5S/genética , Retroelementos/genética , Genes de ARNr , Secuencia de Bases , ADN Ribosómico/genética , Genoma de Planta , Mutación , Evolución Molecular
13.
Clin Chem Lab Med ; 62(3): 493-505, 2024 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-37794778

RESUMEN

OBJECTIVES: Acylcarnitine and amino acid analyses of dried blood spot (DBS) samples using tandem mass spectrometry in newborn screening (NBS) programmes can generate false positive (FP) results. Therefore, implementation of second-tier tests (2TTs) using DBS samples has become increasingly important to avoid FPs. The most widely used 2TT metabolites include methylmalonic acid, 3-hydroxypropionic acid, methylcitric acid, and homocysteine. METHODS: We simultaneously measured 46 underivatised metabolites, including organic acids, acylglycine and acylcarnitine isomers, homocysteine, and orotic acid, in DBS samples using tandem mass spectrometry. To validate this method, we analysed samples from 147 healthy newborns, 160 patients with genetic disorders diagnosed via NBS, 20 patients with acquired vitamin B12 deficiency, 10 newborns receiving antibiotic treatment, and nine external quality control samples. RESULTS: The validation study revealed that 31 metabolites showed good analytical performance. Furthermore, this method detected key metabolites for all diseases associated with increased levels of the following acylcarnitines: C3, C4, C5, C4DC/C5OH, and C5DC. The sensitivity of this method to detect all diseases was 100 %, and the specificity was 74-99 %, except for glutaric aciduria type 1. This method can also be used to diagnose mitochondrial fatty acid ß-oxidation disorders (FAODs) and urea cycle defects (UCDs). CONCLUSIONS: We have described a 2TT panel of 31 metabolites in DBS samples based on an easy and rapid method without derivatisation. Its implementation allowed us to distinguish between different organic acidurias, some FAODs, and UCDs. This new strategy has increased the efficiency of our NBS programme by reducing FP and false negative results, second sample requests, and the time required for diagnosis.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos , Encefalopatías Metabólicas , Carnitina/análogos & derivados , Glutaril-CoA Deshidrogenasa/deficiencia , Tamizaje Neonatal , Espectrometría de Masas en Tándem , Humanos , Recién Nacido , Espectrometría de Masas en Tándem/métodos , Tamizaje Neonatal/métodos , España , Cromatografía Liquida/métodos , Homocisteína , Pruebas con Sangre Seca/métodos
15.
Rev. patol. respir ; 26(4)oct.-dic. 2023. graf
Artículo en Español | IBECS | ID: ibc-228621

RESUMEN

Se presenta el caso clínico de un paciente que asocia tres trastornos de sueño diferentes: narcolepsia, apnea obstructiva del sueño (AOS) y trastorno de conducta del sueño REM. El objetivo es resaltar la importancia de la narcolepsia, una patología infradiagnosticada y que a veces puede quedar enmascarada por otros trastornos de sueño. En este caso, el paciente es diagnosticado inicialmente de AOS, pero dado que persiste con hipersomnolencia diurna debemos descartar otras causas. (AU)


We report a clinical case of a patient who presents three different sleep disorders, namely, narcolepsy, obstructive sleep apnea (OSA), and REM sleep behavior disorder. The objective of this study is to highlight the importance of narcolepsy, which is an underdiagnosed pathology that can sometimes be masked by other sleep disorders. In this case, the patient is initially diagnosed with OSA, but, due to the persistence of excessive daytime sleepiness, we have to rule out other causes. (AU)


Asunto(s)
Humanos , Masculino , Adulto , Trastornos del Sueño-Vigilia/clasificación , Narcolepsia/clasificación , Apnea Obstructiva del Sueño , Trastornos de Somnolencia Excesiva
16.
medRxiv ; 2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-37986978

RESUMEN

Introduction: The Global AIDS Strategy 2021-2026 calls for equitable and equal access to HIV prevention and treatment programmes for all populations to reduce HIV incidence and end HIV/AIDS as a public health threat by 2030. Transgender populations (TGP), including transmen (TGM) and transwomen (TGW) are populations that have been marginalised and are at high risk of HIV infection in sub-Saharan Africa (SSA). Limited surveillance data on HIV among TGP are available in the region to guide programmatic responses and policymaking. Surveillance data on cisgender men who have sex with men (cis-MSM) are comparatively abundant and may be used to infer TGP HIV prevalence. Methods: Data from key population surveys conducted in SSA between 2010-2022 were identified from existing databases and survey reports. Studies that collected HIV prevalence on both TGP and cis-MSM populations were analysed in a random effect meta-analysis to estimate the ratio of cis-MSM:TGW HIV prevalence. Results: Eighteen studies were identified encompassing 8,052 TGW and 19,492 cis-MSM. TGW HIV prevalence ranged from 0-71.6% and cis-MSM HIV prevalence from 0.14-55.7%. HIV prevalence in TGW was 50% higher than in cis-MSM (prevalence ratio (PR) 1.50 95% CI 1.26-1.79). TGW HIV prevalence was highly correlated with year/province-matched cis-MSM HIV prevalence (R2 = 0.62), but poorly correlated with year/province-matched total population HIV prevalence (R2 = 0.1). Five TGM HIV prevalence estimates were identified ranging from 1-24%. Insufficient TGM data were available to estimate cis-MSM:TGM HIV prevalence ratios. Conclusion: Transgender women experience a significantly greater HIV burden than cis-MSM in SSA. Bio-behavioural surveys designed and powered to measure determinants of HIV infection, treatment coverage, and risk behaviours among transgender populations, distinct from cis-MSM, will improve understanding of HIV risk and vulnerabilities among TGP and support improved programmes.

18.
Heliyon ; 9(11): e21260, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37885721

RESUMEN

This work provides a description of the aggregation equilibria of ibuprofen acid in deionized water at temperatures between 20 and 40 °C in the 0.1-20.1 ppm concentration range. For this goal, we have made use of UV-Visible spectroscopy. A calculation algorithm was developed to obtain the aggregate orders and thermodynamic parameters from the experimental absorbance values. Monomeric ibuprofen acid was found to be absent in water solutions. In addition to the dimer, two aggregates formed by 32 and 128 monomeric units were found to co-exist in solution at the highest concentration tested. A critical micelle concentration of 7.8 ppm was estimated for this system. The appearance of the first aggregate occurs when the pH drops below the pKa value, which was determined to be 4.62. At higher ibuprofen concentrations, a sudden jump in the electrical conductivity coincides with the onset of formation of the second aggregate. A varied menu of alternatives is offered with respect to the calibration curve of ibuprofen in water, though the linear calibration of ibuprofen concentration with absorbance might be reasonably performed at 224 nm. Finally, the dissolution rate of the commercial ibuprofen used in this work was found to obey the Noyes-Whitney first order equation.

19.
Methods Mol Biol ; 2703: 227-236, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37646949

RESUMEN

The supernumerary mostly dispensable B chromosomes are nuclear components of about 15% of eukaryotic phyla. For a long time, B chromosomes have been studied, generating an enormous bulk of knowledge, diluted in the vastness of the scientific literature. In order to provide better access to this information, we created B-chrom ( www.bchrom.csic.es ), an online database with comprehensive information on Bs for plants, animals, and fungi. It was released in 2017 and first updated in 2021, by adding 334 entries and 123 new species. Currently, the resource provides information for 2951 species coming from 3292 sources. During this time, the usefulness of this database has been proven by the number of visits (more than 207,000 since its release) and by the scientific community, having been cited in more than 60 publications until present. This chapter explains the database composition and tips on how to use it.


Asunto(s)
Cromo , Eucariontes , Animales , Bases de Datos Factuales , Células Eucariotas , Cromosomas
20.
Methods Mol Biol ; 2703: 237-245, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37646950

RESUMEN

This paper presents the latest update to the Plant rDNA database (Release 4.0), a valuable resource for researchers in the field of plant cytogenetics. The database provides information on the number, position, and arrangement of ribosomal DNA loci in plants, including angiosperms, gymnosperms, bryophytes, and pteridophytes. The new release includes new data for 820 species coming from additional 173 papers. In the updated version of the Plant rDNA database, 4948 entries comprising 2760 organisms can be found. A brief guide on how to navigate the database and obtain the desired information is also provided. The regular updating of the database is important for ensuring the information it contains is accurate, up-to-date, and useful for the research community. The Plant rDNA database continues to be beneficial for phylogenetic and cytogenetic studies in a wide range of taxa including angiosperms, gymnosperms, and early diverging groups, such as bryophytes and lycophytes.


Asunto(s)
Fuentes de Información , Magnoliopsida , ADN Ribosómico/genética , Filogenia , Ribosomas , ADN de Plantas/genética , Análisis Citogenético
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