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Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Fuente:Orphanet Journal of Rare Diseases
Extracto:
Lastly, MGFT over the last few years has established an esteemed diagnostic and
research program on premature puberty with emphasis on the implication of MKRN3
gene on the onset of the disease and the identification of other prognosis
biomarkers.As an Endo-ERN member MGFT department belongs to this large European
network and holds the same humanistic ideals which aim toward the improvements of
health care for patients with rare endocrine conditions in respect to improved
and faster diagnosis.
institución:(a) Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. (b) Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Undiagnosed type 2 diabetes is common - intensified screening of established risk groups is imperative in Sweden: the SDPP cohort.
Undiagnosed type 2 diabetes is common - intensified screening of established risk groups is imperative in Sweden: the SDPP cohort.
Fuente:Bmc Medicine
Extracto:
Nearly half of individuals who develop T2D during 10 years in
Stockholm County are undiagnosed, emphasizing a need for intensified screening of
T2D within primary healthcare. Screening can be targeted to individuals who have
at least two prominent risk factors.
Claves:Healthcare, Public health, Risk factors, Screening, Type 2 diabetes, Undiagnosed
Cita:BMC Med 2024 Apr 19; 22 (1) : 168.
Autor/es:Gudjonsdottir, Hrafnhildur (a) Tynelius, Per (b)
institución:(a) Centre for Epidemiology and Community Medicine, Region Stockholm, Stockholm, Sweden. hrafnhildur.gudjonsdottir@ki.se. (b) Department of Global Public Health, Karolinska Institutet, Stockholm, Sweden. hrafnhildur.gudjonsdottir@ki.se.
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Fuente:Italian Journal of Pediatrics
Extracto:
Maintaining an evidence-based approach is essential to safeguard the
well-being of transgender and gender diverse adolescents.
institución:(a) Pediatric Department, Buzzi Children's Hospital, Milano, Italy. (b) Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy.
Conflicto:Giovanni Corsello is Editor in Chief of the Italian Journal of Pediatrics and Giorgio Perilongo is Associate Editor of the Italian Journal of Pediatrics. Other authors declare that they have no competing interests
Comparing targeted memory reactivation during slow wave sleep and sleep stage 2.
Comparing targeted memory reactivation during slow wave sleep and sleep stage 2.
Fuente:Scientific Reports
Extracto:
These findings suggest that the efficacy of TMR does not
depend on whether it is administered during SWS or S2, despite differential
processing of memory cues in these sleep stages.
Cita:Sci Rep 2024 Apr 20; 14 (1) : 9057.
Autor/es:Carbone, Julia (a) Bibian, Carlos (b)
institución:(a) Institute of Medical Psychology and Behavioral Neurobiology, Tübingen, Germany. (b) Graduate Training Centre of Neuroscience, International Max Planck Research School, Tübingen, Germany.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Analysis of plasma metabolomes from 11 309 subjects in five population-based cohorts.
Analysis of plasma metabolomes from 11 309 subjects in five population-based cohorts.
Fuente:Scientific Reports
Extracto:
Collectively, our findings
inform the conduct and interpretation of metabolite association and precision
medicine studies.
Cita:Sci Rep 2024 Apr 18; 14 (1) : 8933.
Autor/es:Ghosh, Nilanjana (a) Lejonberg, Carl (b)
institución:(a) The Wallenberg Laboratory/Department of Molecular and Clinical Medicine, Institute of Medicine, Gothenburg University and the Department of Cardiology, Sahlgrenska University Hospital, SE-413 45, Gothenburg, Sweden. (b) Department of Cardiology, Clinical Sciences, Lund University, Lund, Sweden.
Conflicto:Richard Robinson and Anne M. Evans are employees of Metabolon Inc. The other authors have no conflict of interest to declare.
Chronic kidney disease and cognitive performance: NHANES 2011-2014.
Chronic kidney disease and cognitive performance: NHANES 2011-2014.
Fuente:Bmc Geriatrics
Extracto:
CKD, especially stages3-5 CKD, was
significantly associated with poor cognitive performance in terms of executive
function, learning, processing speed, concentration, and working memory ability.
All adults with CKD should be screened for cognitive impairment.
institución:(a) Department of Nephrology, Nanchang People's Hospital, Nanchang, Jiangxi, China. (b) Department of Cardiology, Nanchang People's Hospital, Nanchang, Jiangxi, China.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study.
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study.
Fuente:Orphanet Journal of Rare Diseases
Extracto:
Our
cohort-study in women with Fabry disease shows an increase of pain burden during
pregnancies and clearly points to an increased risk for preeclampsia,
prematurity, and neonates small for gestational age. With a substantial number of
high-risk pregnancies, neonatal outcomes are somewhat worse in Fabry disease than
in the general public. Thus, we provide valuable data enabling informed
decision-making in pregnancy counselling for Fabry disease.
institución:(a) Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria. natalja.haninger@meduniwien.ac.at. (b) University of Vienna, Vienna, Austria.
Conflicto:GSP, CG, MP received honoraria and travel support from Amicus Therapeutics. MP has participated in meetings sponsored by, received speaker or consulting honoraria or travel funding from Amicus, Merck, Novartis and Sanofi-Genzyme. CG received honoraria and travel support from Amicus Therapeutics, Sanofi-Aventis and Takeda pharmaceuticals.
Are there lost opportunities in chronic kidney disease? A region-wide cohort study.
Are there lost opportunities in chronic kidney disease? A region-wide cohort study.
Fuente:Bmj Open
Tipo de trabajo:Guía
Extracto:
While we noted underdiagnosis and undertreatment of
CKD in this large contemporary population, we also identified a substantial
realisable potential to improve CKD outcomes and reduce its burden by treating
patients early with guideline-directed pharmacological therapy.
institución:(a) Department of Medical Sciences, Clinical Epidemiology, Uppsala University, Uppsala, Sweden johan.sundstrom@uu.se. (b) The George Institute for Global Health, University of New South Wales, Sydney, New South Wales, Australia.
Conflicto:Competing interests: JS reports stock ownership in Anagram kommunikation AB and Symptoms Europe AB. AN has participated as a consultant on advisory board committees and educational activities with Astra Zeneca, Novo Nordisk, Boehringer Ingelhim and Eli Lilly. SK has participated as a consultant on advisory board committees and educational activities with AstraZeneca and Novo Nordisk. JB is an employee of...
AstraZeneca. TC is an employee and stockowner in Sence Research AB (an independent company in epidemiology and outcomes research) that received funding from AstraZeneca for statistical analysis within this research project. MKS has participated as a consultant on advisory board committees and educational activities with Amgen, AstraZeneca, Boehringer Ingelheim, GSK and NovoNordisk. JÄ has received payment/honoraria from AstraZeneca and Novartis; participated on a data safety monitoring/advisory board for AstraZeneca, Astella and Boehringer Ingelheim. The other authors report no competing interests.
Prehospital identification of intracerebral haemorrhage
Prehospital identification of intracerebral haemorrhage
Fuente:Bmj Open
Tipo de trabajo:Revisión
Extracto:
This scoping review has identified potential clinical features for the
identification of ICH in suspected stroke patients. However, the considerable
heterogeneity among the included studies precludes meta-analysis of available
data. Moreover, we have explored portable devices to enhance ICH identification.
While these devices have shown promise in detecting ICH, further technological
development is required to distinguish between stroke subtypes (ICH vs ischaemic
stroke) and non-stroke diagnoses.
Claves:accident & emergency medicine, stroke, stroke medicine
Cita:BMJ Open 2024 Apr 19; 14 (4) : e079316.
Autor/es:Almubayyidh, Mohammed (a) Alghamdi, Ibrahim (b)
institución:(a) Division of Cardiovascular Sciences, The University of Manchester, Manchester, UK mohammed.almubayyidh@postgrad.manchester.ac.uk. (b) Department of Aviation and Marine, Prince Sultan Bin Abdulaziz College for Emergency Medical Services, King Saud University, Riyadh, Saudi Arabia.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
The plasma proteome differentiates the multisystem inflammatory syndrome in children (MIS-C) from children with SARS-CoV-2 negative sepsis.
The plasma proteome differentiates the multisystem inflammatory syndrome in children (MIS-C) from children with SARS-CoV-2 negative sepsis.
Fuente:Molecular Medicine (cambridge, Mass.)
Extracto:
The plasma proteome of MIS-C patients was distinct
from that of SCNS. The key proteins demonstrated expression in all organ systems
and most cell types. The unique proteomic signature identified in MIS-C patients
could aid future diagnostic and therapeutic advancements, as well as predict
hospital length of stays, interventions, and mortality risks.
Autor/es:Patel, Maitray A (a) Fraser, Douglas D (b)
institución:(a) Epidemiology and Biostatistics, Western University, N6A 3K7, London, ON, Canada. (b) Lawson Health Research Institute, N6C 2R5, London, ON, Canada. douglas.fraser@lhsc.on.ca.
Extracto:
In summary, the BGR is a resource for use by
stakeholders interested in advancing translational research for brain genes and
continues to recruit participants with clinically reported variants to establish
a rich and well-characterized national resource to promote research on
neurodevelopmental disorders.
Claves:Brain gene registry, Electronic health records, Neurodevelopmental disorders
Cita:J Neurodev Disord 2024 Apr 17; 16 (1) : 17.
Autor/es:Baldridge, Dustin (a) Kaster, Levi (b)
institución:(a) Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. dbaldri@wustl.edu. (b) Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Association of early-life exposure to air and noise pollution with youth mental health: findings from the ALSPAC cohort.
Association of early-life exposure to air and noise pollution with youth mental health: findings from the ALSPAC cohort.
Fuente:The Lancet. Planetary Health
Extracto:
FUNDING: Wellcome Trust, UK Medical
Research Council-Wellcome, and University of Bristol.
Cita:Lancet Planet Health 2024 Apr; 8 Suppl 1 : S11.
Autor/es:Newbury, Joanne B (a) Heron, Jon (b)
institución:(a) Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK. Electronic address: joanne.newbury@bristol.ac.uk. (b) Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Conflicto:Declaration of interests We declare no competing interests.
Efficacy and Safety of Computed Tomography-Guided Percutaneous Balloon Compression under Local Anesthesia for Recurrent Trigeminal Neuralgia: A Prospective Study.
Efficacy and Safety of Computed Tomography-Guided Percutaneous Balloon Compression under Local Anesthesia for Recurrent Trigeminal Neuralgia: A Prospective Study.
Fuente:Pain Research & Management
Tipo de trabajo:Orientaciones y guía
Extracto:
CT-guided PBC under local anesthesia is safe and effective
for the treatment of recurrent TN and thus acts as an effective alternative for
geriatric patients and those with high-risk factors.
Cita:Pain Res Manag 2024; 2024 : 8885274.
Autor/es:Xi, Lulu (a) Liu, Xiaohui (b)
institución:(a) Department of Pain, Second Hospital of Hebei Medical University, 215 Hepingxi Road, Shijiazhuang, Hebei 050000, China. (b) Department of Pain, Second Hospital of Hebei Medical University, 215 Hepingxi Road, Shijiazhuang, Hebei 050000, China.
Conflicto:Los autores declaran no tener conflictos de interés con la investigación
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Fuente:Molecular Genetics & Genomic Medicine
Tipo de trabajo:Revisión
Extracto:
Analysis of Asx and Asx/Sym females with OTCD in this study suggests that future
evidence-based management guidelines and/or a clinical risk score calculator for
this cohort could be useful management tools to reduce morbidity and improve
long-term quality of life.
Cita:Mol Genet Genomic Med 2024 Apr; 12 (4) : e2443.
Autor/es:Sen, Kuntal (a) Izem, Rima (b)
institución:(a) Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, The George Washington School of Medicine, Washington, DC, USA. (b) Center for Translational Sciences, Children's National Hospital, The George Washington University, Washington, DC, USA.
Conflicto:The authors report no conflict of interest.
Extracto:
Even though with no statistical significance,
due to the low number of cases, our results seem to confirm a sort of
relationship between meningioma grading and the number of MCs, as demonstrated by
the higher percentage of high-grade meningiomas showing MCs infiltrates, compared
to low-grade meningiomas.
Cita:Eur J Histochem 2024 Apr 18; 68 (2)
Autor/es:D'Amati, Antonio (a) Tamma, Roberto (b)
institución:(a) Department of Translational Biomedicine and Neuroscience, "Aldo Moro" University of Bari. antonio.damati@uniba.it. (b) Department of Translational Biomedicine and Neuroscience, "Aldo Moro" University of Bari. roberto.tamma@uniba.it.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery TJTES
Selección SIIC: 25 Abril, 2024
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery TJTES
The role of ischemia-modified albumin, presepsin, delta neutrophil index, and inflammatory markers in diagnosing acute cholecystitis.
The role of ischemia-modified albumin, presepsin, delta neutrophil index, and inflammatory markers in diagnosing acute cholecystitis.
Fuente:Ulusal Travma Ve Acil Cerrahi Dergisi = Turkish Journal of Trauma & Emergency Surgery Tjtes
Extracto:
The authors believe that
the neutrophil-to-lymphocyte ratio, delta neutrophil index, ischemia-modified
albumin, ischemia-modified albumin to albumin ratio, and presepsin values can be
used as new markers in the diagnosis of acute cholecystitis due to their high
sensitivity, specificity, and low negative likelihood ratio.
Autor/es:Gedik, Muhammed Semih (a) Kilci, Ali Ihsan (b)
institución:(a) Department of Emergency Medicine, Sütçü İmam University Faculty of Medicine, Kahramanmaraş-Türkiye. (b) Department of Emergency Medicine, Sütçü İmam University Faculty of Medicine, Kahramanmaraş-Türkiye.
Genetic and Phenotypic Profiling of Triptan Users in a Swedish Cluster Headache Cohort.
Genetic and Phenotypic Profiling of Triptan Users in a Swedish Cluster Headache Cohort.
Fuente:Journal of Molecular Neuroscience Mn
Extracto:
These results support the hypothesis that genetic
variants can play a role in triptan usage in CH and that patients with a typical
CH phenotype are more likely to use triptans.
institución:(a) Centre for Cluster Headache, Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden. (b) Centre for Cluster Headache, Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Conflicto:The authors have no relevant financial or non-financial interests to disclose.
TB LAMP assay, a beneficial tool for the diagnosis of Tubercular meningitis in resource-limited settings.
TB LAMP assay, a beneficial tool for the diagnosis of Tubercular meningitis in resource-limited settings.
Fuente:Journal of Infection in Developing Countries
Extracto:
TB LAMP assay is a rapid, cost-effective, sensitive, and specific
test for tubercular meningitis infection in resource-limited settings.
Claves:CSF, MGIT, TB LAMP, TBM, Xpert, ZN Smear
Cita:J Infect Dev Ctries 2024 Mar 31; 18 (3) : 435-440.
Autor/es:Mittal, Vineeta (a) Kumar, Manoj (b)
institución:(a) Department of Microbiology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India. (b) Department of Microbiology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India.
Extracto:
Because this
information can be obtained even from standard T1-weighted MRI, this paves the
way toward such an approach for future monitoring of patients with MS.
institución:(a) From the University of Bordeaux (I.K., T.Y., A.R., B.B., V.D., T.T.), INSERM, Neurocentre Magendie, U1215; Neuroimagerie diagnostique et thérapeutique (S.B.), CHU de Bordeaux; University of Bordeaux (R.A.K., B.M., P.C.), CNRS, Bordeaux INP, LABRI, UMR5800, Talence; Univ. Bordeaux (V.P.), CNRS, IMN, UMR 5293; Groupe d'Imagerie Neurofonctionnelle (L.P.), Institut des Maladies Neurodégénératives CNRS UMR 5293, Bordeaux, France; Department of Medical Imaging (M.S.), The University of Arizona, Tucson; Université de Lyon (R.C.), Université Claude Bernard Lyon 1, France; and Instituto de Aplicaciones de las Tecnologías de la Información y de las Comunicaciones Avanzadas (ITACA) (J.V.M.), Universitat Politècnica de València, Spain. (b) From the University of Bordeaux (I.K., T.Y., A.R., B.B., V.D., T.T.), INSERM, Neurocentre Magendie, U1215; Neuroimagerie diagnostique et thérapeutique (S.B.), CHU de Bordeaux; University of Bordeaux (R.A.K., B.M., P.C.), CNRS, Bordeaux INP, LABRI, UMR5800, Talence; Univ. Bordeaux (V.P.), CNRS, IMN, UMR 5293; Groupe d'Imagerie Neurofonctionnelle (L.P.), Institut des Maladies Neurodégénératives CNRS UMR 5293, Bordeaux, France; Department of Medical Imaging (M.S.), The University of Arizona, Tucson; Université de Lyon (R.C.), Université Claude Bernard Lyon 1, France; and Instituto de Aplicaciones de las Tecnologías de la Información y de las Comunicaciones Avanzadas (ITACA) (J.V.M.), Universitat Politècnica de València, Spain.
Early life exposure to pollens and increased risks of childhood asthma
Early life exposure to pollens and increased risks of childhood asthma
Fuente:The European Respiratory Journal
Tipo de trabajo:Estudio de cohortes
Extracto:
ncreased exposure to tree canopy around the place of residence at birth
prevented the risk of childhood asthma development, but this protective effect
can be reduced when exposure to weed and tree pollen increases
https://bit.ly/3Tboabo
Cita:Eur Respir J 2024 Apr; 63 (4)
Autor/es:Stanescu, Cristina (a) Talarico, Robert (b)
institución:(a) Population Studies Division, Health Canada, Ottawa, ON, Canada. (b) ICES uOttawa (formerly known as Institute for Clinical Evaluative Sciences), Ottawa, ON, Canada.
Conflicto:Conflict of interest: All authors associated with this paper affirm that they have no potential conflicts of interest to disclose.