8,110 results match your criteria: "Germany T.P.; and AOK Research Institute WIdO[Affiliation]"

Polymer colloidal crystals (PCCs) have been widely explored as acoustic and optical metamaterials and as templates for nanolithography. However, fabrication impurities and fragility of the self-assembled structures are critical bottlenecks for the device's efficiency and applications. We have demonstrated that temperature-assisted pressure [ annealing results in the mechanical strengthening of PCCs, which improves with the annealing temperature.

View Article and Find Full Text PDF

Detection of ictal apnea refines the clinical spectrum of ATRX syndrome.

Epilepsy Behav Rep

October 2024

Bielefeld University, Medical School and University Medical Center OWL, Mara Hospital, Department of Epileptology, Maraweg 21, Bielefeld, Germany.

Article Synopsis
  • Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is a genetic disorder caused by mutations in the ATRX gene, leading to distinct physical features, alpha thalassemia, intellectual disability, and epilepsy in about 30% of cases.
  • A case study of a 36-year-old patient highlights severe intellectual disability and epilepsy linked to a specific pathogenic variant in the ATRX gene.
  • This report contributes to existing knowledge by documenting the simultaneous occurrence of seizure-related and non-seizure related apnea, enhancing the understanding of respiratory issues in ATRX syndrome.
View Article and Find Full Text PDF

Distributed Opioids in Morphine Equivalent: A Global Measure of Availability for Palliative Care.

J Pain Symptom Manage

February 2025

International Association of Hospice and Palliative Care (IAHPC) (L.D.L.), Houston, TX, USA; Department of Palliative Medicine (V.V.E.L.R.), University Hospital Bonn, Bonn, Germany.

Article Synopsis
  • Estimates show a significant need for palliative care in low- and middle-income countries, particularly regarding access to essential opioids for pain relief.
  • The DOME (Distributed Opioids in Morphine Equivalents) methodology quantifies this need by converting procured opioid quantities into morphine equivalents, allowing for a clearer assessment of unmet pain relief requirements.
  • By using DOME and its metrics, countries can evaluate their health systems' capacity for palliative care and address gaps, ultimately improving health coverage and access to necessary treatments.
View Article and Find Full Text PDF

Background: Perivascular space (PVS) enlargement in ageing and Alzheimer's disease (AD) and the drivers of such a structural change in humans require longitudinal investigation. Elucidating the effects of demographic factors, hypertension, cerebrovascular dysfunction, and AD pathology on PVS dynamics could inform the role of PVS in brain health function as well as the complex pathophysiology of AD.

Methods: We studied PVS in centrum semiovale (CSO) and basal ganglia (BG) computationally over three to four annual visits in 503 participants (255 females; mean = 70.

View Article and Find Full Text PDF

Use of Essential Medicines for Pain Relief and Palliative Care: A Global Consensus Process.

J Pain Symptom Manage

January 2025

International Association for Hospice and Palliative Care (T.P., L.D.L., L.R.), Houston, USA; University of Bonn (L.R.), Bonn, Germany.

Context: The WHO Model List of Essential Medicines includes 24 medications under the section Medicines for Pain and Palliative Care (EML). The Lancet Commission on Pain and Palliative Care developed the Lancet Essential Package (LEP), including 35 medications designed to alleviate serious health-related suffering worldwide.

Objectives: This study aims to provide recommendations on the appropriate use of essential of medicines in palliative care.

View Article and Find Full Text PDF
Article Synopsis
  • Multiple myeloma (MM) is still an incurable cancer despite available therapies, with T-cell bispecific antibodies (TCBs) targeting BCMA and GPRC5D showing promise but facing issues like resistance and relapse due to antigen loss.
  • Forimtamig is a novel GPRC5D-targeting TCB that works more effectively than traditional formats by forming stable immunological connections, leading to better tumor cell destruction and T cell activation in preclinical studies.
  • Current research is exploring forimtamig in clinical trials for relapsed and refractory MM patients, both alone and alongside traditional care and new therapies, to enhance treatment outcomes and prevent relapses.
View Article and Find Full Text PDF

Targeting Sphingosine-1-Phosphate Signaling to Prevent the Progression of Aortic Valve Disease.

Circulation

January 2025

Department of Cardiology, Pulmonology, and Vascular Medicine, University Hospital Düsseldorf, Medical Faculty of the Heinrich Heine University Düsseldorf, Düsseldorf, Germany (M. Benkhoff, M. Barcik, P.M., J.D., P.K., M.H., T.H., S.Z., J.S., M.C., C.H., L.W., H.H., G.A.-K., D.M., J.W., L.D., C.Q., N.G., T.Z., M.K., A.P.).

Background: Aortic valve disease (AVD) is associated with high mortality and morbidity. To date, there is no pharmacological therapy available to prevent AVD progression. Because valve calcification is the hallmark of AVD and S1P (sphingosine-1-phosphate) plays an important role in osteogenic signaling, we examined the role of S1P signaling in aortic stenosis disease.

View Article and Find Full Text PDF

Addressing the Generalizability of AI in Radiology Using a Novel Data Augmentation Framework with Synthetic Patient Image Data: Proof-of-Concept and External Validation for Classification Tasks in Multiple Sclerosis.

Radiol Artif Intell

November 2024

From the Department of Neuroradiology (G.B., C.J.P., M.F.D., M.A.M., M.B., H.M., A. Rastogi, P.V.), Division for Computational Neuroimaging (G.B., C.J.P., M.F.D., M.A.M., H.M., A. Rastogi, P.V.), and Department of Neurology (B.W., R.D., W.W.), Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany; Department of Neuroradiology (G.B., K.D., R.H., M.F.D., A. Radbruch, P.V.), Division for Computational Radiology and Clinical AI (G.B., M.F.D., A. Radbruch, P.V.), Bonn University Hospital, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany (K.D., A. Radbruch); Division of Medical Image Computing, German Cancer Research Center (DKFZ), Heidelberg, Germany (G.B., P.V.); and Institute for Applied Mathematics, University of Bonn, Bonn, Germany (T.P.).

Article Synopsis
  • AI models usually struggle when applied to new datasets after being developed, leading to lower performance.
  • This study explored the use of a data augmentation method through generative adversarial networks (GAN) to create synthetic patient images, aiming to enhance the AI model's ability to generalize across different datasets.
  • Results showed that models using synthetic data achieved much better performance on external tests compared to those that did not, indicating that this approach could be beneficial in other medical imaging tasks as well.*
View Article and Find Full Text PDF

Mutations in the CLCNKB gene (1p36), encoding the basolateral chloride channel ClC-Kb, cause type 3 Bartter syndrome. We identified a family with a mixed Bartter/Gitelman phenotype and early-onset kidney failure and by employing a candidate gene approach, identified what we believe is a novel homozygous mutation (CLCNKB c.499G>T [p.

View Article and Find Full Text PDF

Purpose: This work proposes a "hybrid" RF pulse design method for parallel transmit (pTx) systems to simultaneously control flip angle and root-mean-squared ( ). These pulses are generally only designed for flip angle, however, this can lead to uncontrolled , which then leads to variable magnetization transfer (MT) effects. We demonstrate the hybrid design approach for quantitative imaging where both flip angle and are important.

View Article and Find Full Text PDF
Article Synopsis
  • Next-generation sequencing is growing in low- and middle-income countries, including Pakistan, but access is still limited, especially among isolated communities like the Pashtuns, who have unique genetic traits due to their customs.
  • Researchers from Bannu University and the University of Tuebingen collaborated to study genetic causes of epilepsy in the Pashtun community, focusing on families with a history of monogenetic epilepsy.
  • Their findings revealed specific genetic variants linked to various forms of genetic epilepsy, highlighting the need for implementing diagnostic sequencing in Pakistan to further advance genetic research in these populations.
View Article and Find Full Text PDF

Detectability of Hypoattenuating Liver Lesions with Deep Learning CT Reconstruction: A Phantom and Patient Study.

Radiology

October 2024

From the Department of Radiology, Division of Abdominal Radiology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit St, White 270, Boston, MA 02114-2696 (J.C., N. Mroueh, N. Mercaldo, S.L., S.K., S.S.R., N.P., V.B., T.T.P., M.A.A., M.S., A.S.S.B., A.R.K.); Institute for Diagnostic and Interventional Radiology, Faculty of Medicine, University Cologne, University Hospital Cologne, Cologne, Germany (S.L.); and Department of Radiology, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Chulalongkorn University, Bangkok, Thailand (S.K., N.P.).

Background CT deep learning image reconstruction (DLIR) improves image quality by reducing noise compared with adaptive statistical iterative reconstruction-V (ASIR-V). However, objective assessment of low-contrast lesion detectability is lacking. Purpose To investigate low-contrast detectability of hypoattenuating liver lesions on CT scans reconstructed with DLIR compared with CT scans reconstructed with ASIR-V in a patient and a phantom study.

View Article and Find Full Text PDF

Atrial fibrillation (AF) is a complex disease requiring a multidomain and (usually) long-term management, thus posing a significant burden to patients with AF, practitioners, and health care system. Unlike cardiovascular conditions with a narrow referral pathway (e.g.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates how different movement behaviors (like physical activity and sedentary time) affect cardiometabolic health in women with and without polycystic ovary syndrome (PCOS).
  • It found no overall differences in daily movement patterns between the groups, but reducing sedentary behavior (SB) while increasing moderate-to-vigorous physical activity (MVPA) improved health markers for women without PCOS, while women with PCOS only showed benefits from substituting SB with MVPA.
  • The research involved a large cohort study from Northern Finland, analyzing data from 5889 women with follow-ups at ages 31 and 46, focusing on physical activity levels and cardiometabolic health indicators.
View Article and Find Full Text PDF
Article Synopsis
  • - This study investigates the genetic causes of junctional epidermolysis bullosa (JEB) and enamel hypoplasia in a family, focusing on how an intronic variant impacts LAMB3 expression and disease development.
  • - Researchers used advanced sequencing techniques and functional assays to identify a nonsense variant and an intronic variant of LAMB3 that disrupt normal splicing, affecting protein translation without altering overall mRNA levels.
  • - The findings suggest that changes in the 5' untranslated region (5'UTR) could play a role in the genetic basis of JEB, potentially improving diagnostic methods for patients with this condition.
View Article and Find Full Text PDF

Sumatriptan-naproxen sodium in migraine: A review.

Eur J Neurol

September 2024

Headache Group, NIHR King's Clinical Research Facility and SLaM Biomedical Research Centre, The Wolfson Sensory, Pain and Regeneration Research Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

Article Synopsis
  • Over one-third of patients with migraines experience inadequate relief from acute medications, highlighting the need for more effective treatments.
  • Sumatriptan-naproxen sodium, a combined medication, was studied in 14 clinical trials to assess its effectiveness for migraine relief among adults and adolescents.
  • The results showed that sumatriptan-naproxen sodium provided significantly superior pain relief within 2 hours and sustained pain freedom for up to 24 hours compared to other treatments, demonstrating its potential in enhancing acute migraine care.
View Article and Find Full Text PDF

Feature-based molecular networking (FBMN) is a popular analysis approach for liquid chromatography-tandem mass spectrometry-based non-targeted metabolomics data. While processing liquid chromatography-tandem mass spectrometry data through FBMN is fairly streamlined, downstream data handling and statistical interrogation are often a key bottleneck. Especially users new to statistical analysis struggle to effectively handle and analyze complex data matrices.

View Article and Find Full Text PDF

Intravenous Thrombolysis in Patients With Cervical Artery Dissection: A Secondary Analysis of the STOP-CAD Study.

Neurology

October 2024

From the Department of Neurology (L.S., F. Akpokiere, D.M.M., K.P., V.D., K.B., T.M.B., N.S.K., F. Khan, C.S., N. Mohammadzadeh, E.D.G., K.F., S. Yaghi), Warren Alpert Medical School of Brown University, Providence, RI; Vancouver Stroke Program (T.S.F., L.Z., P.G.), Division of Neurology, University of British Columbia, Vancouver, Canada; Department of Neurology (C.R.L.G.), Atrium Health, Charlotte, NC; Department of Neurology (J. Muppa, N.H.), University of Massachusetts Chan Medical School, Worcester; Department of Neurology (M. Affan, O.U.H.L.), University of Minnesota, Minneapolis; Department of Neurology (M.R.H., K.A., D.J.S., M. Arnold), Inselspital, University Hospital and University of Bern, Switzerland; Department of Neurology (S.S.O., R. Crandall), University of Colorado, Denver; Department of Neurology (E.L.), Weill Cornell Medicine, New York; ; Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suarez (D.L.-M., A. Arauz), Mexico City, Mexico; Service de neurologie (A.N., M.B., E.T.), Université Caen Normandie, CHU Caen Normandie, France; Department of Neurology (J.A.S., J.S.-F., V.B.), Coimbra University, ; Department of Internal Medicine (P.C.-C., M.T.B.), São João University Hospital, Porto, Portugal; Department of Neurology (M.K., D.M.), Corewell Health, Grand Rapids, MI; Department of Neurology (M.K.), Mayo Clinic, Rochester, MN; Department of Neurology (A.R., O.K.), University of Pennsylvania, Philadelphia; Neurology and Neurorehabilitation (J.E.K., S.T.E., C.T.), University Department of Geriatric Medicine FELIX PLATTER, Department of Clinical Research, University of Basel, and University Hospital Basel, Switzerland; Stroke Center (D.A.d.S.), Centro Hospitalar Universitário Lisboa Central, and Institute of Anatomy, Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (M.D.S.); Department of Neuroradiology (S.B.R.), Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal; Vancouver Stroke Program (S. Mancini), Division of Neurology, University of British Columbia, Vancouver, Canada; Department of Neurology (I.M., R.R.L.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neurology with Experimental Neurology (R.V.R., C.H.N.), Charite Universitätsmedizin-Berlin and Center for Stroke Research, Berlin, and Berlin Institute of Health, Germany; Department of Neurosciences (R. Choi, J. MacDonald), ChristianaCare, Newark, DE; Department of Neurology (R.B.S.), University of California at San Diego; Department of Neurology (X.G.), Loma Linda University, Loma Linda, CA; Department of Neurology (M. Ghannam, M. Almajali, E.A.S.), University of Iowa, Iowa City; Department of Neurosciences (B.R., F.Z.-E., A.P.), Université de Montréal, Canada; Department of Neurology (A.C.F., M.F.B., D.C.), Hospital de Santa Maria, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Portugal; Neurology and Stroke Unit (M. Romoli, G.D.M., M.L.), Department of Neuroscience, Bufalini Hospital, Cesena, Italy; Department of Neurology (Z.K., K.J.G.), Mayo Clinic, Rochester, MN; Department of Neurology (L.K., J.A.F.), NYU Langone Health, New York; Department of Neurology (J.Y.A., J.A.G.), Washington University, Saint Louis, MO; Neurology Unit, Stroke Unit (M. Zedde, I.G.), Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia; Neuroradiology Unit (R.P.), Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia; Department of Internal Medicine (H.N.), Centro Hospital Universitario do Algarve, Faro, Portugal; Department of Neurology (D.S.L., A.M.), University of California at Los Angeles; Department of Neurology (A.C., B.M.G., R.W.), Duke University, Durham, NC; Department of Neurology (W.K.), University of North Carolina Health Rex, Raleigh; Department of Neurology (S.A.K., M. Anadani), Medical University of South Carolina, Charleston, SC; Department of Neurosurgery (K.P.K.), Medical University of South Carolina, Charleston, SC; Department of Neurology (A.E., L.C., R.C.R., Y.N.A., E.A.M.), University of Cincinnati Medical Center, OH; Department of Neurology (E.B., T.L.T.), University of Alabama at Birmingham; Department of Neurology (M.R.-G., M. Requena), University Hospital Vall d'Hebron, Barcelona, Spain; Department of Neurology (F.G.S.V., J.O.G.), University of Oklahoma; Department of Neurology (V.M.), Einstein-Jefferson Healthcare Network, Philadelphia, PA; Department of Neurology (A.H.), University of Utah, Salt Lake City; Department of Neurology (A.H.); Department of Neurology (S. Sanchez, A.S.Z., Y.K.C., R.S.), Yale New Haven Hospital, New Haven, CT; Department of Neurology (V.Y.V.), All India Institute of Medical Sciences, New Delhi, India; Department of Neurology (S. Yaddanapudi, L.A., A. Browngoehl), Thomas Jefferson University, Philadelphia, PA; Department of Neurology (T.R., R.D., Z.L.), Wake Forest Medical Center, NC; Department of Neurology (M.P., J.E.S.), Cooper University, Camden, NJ; Department of Neurology (S. Mayer, J.Z.W.), Columbia University Medical Center, New York, NY; Department of Neurology (J.P.M., D.K.), Hospital de Egas Moniz, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal; Department of Neurology (P.K., T.N.N.), Boston Medical Center, MA; Department of Neurology (S.D.A., Z.S., A. Balabhadra, S.P.), Hartford Hospital, CT; Department of Neurology (T.S.), Hospital Moinhos de Vento; Department of Neurology (S.C.M., G.P.M.), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Neurology (Y.D.K.), Yonsei University, Seoul, South Korea; Department of Neurology (B.K., C.E.), University of Tennessee at Memphis; Department of Neurology (S. Lingam, A.Y.Q.), Kansas University Medical Center, Kansas City; Department of Neurology (S.F., A. Alvarado), Western Ontario University, London, Canada; Department of Neurology (F. Khasiyev, G.L.), Saint Louis University, MO; Department of Neurology and Stroke Unit (M.M., V.T.), AOOR Villa Sofia-V. Cervello, Palermo, Italy; First Department of Neurology (A.T., V.T.-P.), National and Kapodistrian University of Athens, Greece; Department of Neurology (M.M.M.-M., V.C.W.), Centro Médico Nacional Siglo XXI IMSS., México City; Department of Neurology (F.I., S.E.E.J.), The Miriam Hospital, Providence, RI; Department of Neurocritical Care (S. Liu, M. Zhou), The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology, Hefei, China; Department of Neurology (M.M.A., F. Ali, M.S.), West Virginia University, WV; Department of Neurology (R.Z.M., T.K.-H.), University of Chicago, IL; Department of Neurology (F.S., J.Z.), Sir Run Run Shaw Hospital of Zhejiang University Medical School, Hangzhou, China; Department of Neurology (D.S., J.S., N. Mongare), Aga Khan University, Nairobi, Kenya; Department of Neurology (A.N.S., R.G., Shayak Sen), Cedars Sinai Medical Center, Los Angeles, CA; Department of Neurology (M. Ghani, M.E.), University of Louisville, KY; and Department of Economics (H.X.), University of California, Santa Barbara.

Article Synopsis
  • Cervical artery dissection (CeAD) is a leading cause of ischemic strokes in young adults, and this study explored the effects of intravenous thrombolysis (IVT) on patients with CeAD and stroke symptoms.
  • Analyzed data from the STOP-CAD study, it found that IVT significantly improved functional independence after 90 days in patients without increasing the risk of symptomatic intracranial hemorrhage.
  • The results suggest that IVT is a beneficial treatment for eligible patients with CeAD, aligning with current medical guidelines on its use.
View Article and Find Full Text PDF

Background: The flexion relaxation phenomenon (FRP) is characterized by suddenly reduced paraspinal muscle activity during full flexion. Previous studies showed significant differences in FRP and flexion angles in chronic low back pain (cLBP) patients compared to individuals without back pain (no-BP). However, the relationship between FRP and flexion angles remains insufficiently understood in older populations.

View Article and Find Full Text PDF

Perioperative Durvalumab with Neoadjuvant Chemotherapy in Operable Bladder Cancer.

N Engl J Med

November 2024

From Barts Cancer Institute, Queen Mary University of London, Barts Health NHS Trust Biomedical Research Centre, London (T.P.), the Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, and Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield (J.W.F.C.), and AstraZeneca, Cambridge (J.A.) - all in the United Kingdom; the Division of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai (M.D.G.), the Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center (H.A.-A.), and AstraZeneca (A.G.) - all in New York; the Departments of Urology and Biochemistry, Northwestern University Feinberg School of Medicine, Chicago (J.J.M.); the University of Tsukuba, Tsukuba, Japan (H.N.); Internal Medical 3, Vietnam National Cancer Hospital, Hanoi (T.Q.V.); the Department of Experimental and Clinical Medicine, University of Florence, and the Medical Oncology Unit, Careggi University Hospital - both in Florence, Italy (L.A.); Maria Skłodowska-Curie National Research Institute of Oncology, Warsaw, Poland (P.W.); the Volga District Medical Center, Federal Medical-Biological Agency, Nizhny Novgorod, Russia (V.A.); Hospital Alemão Oswaldo Cruz, Sao Paulo (A.G.K.); the Department of Urology, Kyungpook National University Chilgok Hospital, Daegu, South Korea (T-H.K.); Medical Oncology, Vall d´Hebron Institute of Oncology, Hospital Universitari Vall d´Hebron, Vall d´Hebron Barcelona Hospital Campus, Barcelona (C.S.); the Department of Urology, China Medical University Hospital and School of Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan (C-H.C.); the Department of Urology, Marien Hospital Herne, Ruhr University Bochum, Herne, Germany (F.R.); Istanbul University-Cerrahpaşa, Cerrahpaşa School of Medicine, Istanbul, Turkey (M.Ö.); BC Cancer-Vancouver, Vancouver, BC, Canada (B.J.E.); Mater Hospital Brisbane, Mater Misericordiae, and the School of Clinical Medicine, Mater Clinical Unit, University of Queensland - both in Brisbane, Australia (N.O.); the Department of Oncology, First Faculty of Medicine, Charles University and Thomayer Hospital, Prague, Czech Republic (T.B.); the Institute of Oncology, Sheba Medical Center, Ramat Gan, and the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv - both in Israel (M.G.); the University of Iowa Hospitals and Clinics, Holden Comprehensive Cancer Center, Iowa City (Y.Z.); AstraZeneca, Gaithersburg, MD (S.H.); and the Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam (M.S.H.).

Background: Neoadjuvant chemotherapy followed by radical cystectomy is the standard treatment for cisplatin-eligible patients with muscle-invasive bladder cancer. Adding perioperative immunotherapy may improve outcomes.

Methods: In this phase 3, open-label, randomized trial, we assigned, in a 1:1 ratio, cisplatin-eligible patients with muscle-invasive bladder cancer to receive neoadjuvant durvalumab plus gemcitabine-cisplatin every 3 weeks for four cycles, followed by radical cystectomy and adjuvant durvalumab every 4 weeks for eight cycles (durvalumab group), or to receive neoadjuvant gemcitabine-cisplatin followed by radical cystectomy alone (comparison group).

View Article and Find Full Text PDF

Background: Selumetinib is the first approved treatment for pediatric patients with neurofibromatosis type 1 (NF1) and symptomatic, inoperable plexiform neurofibromas (PN) in the EU and US, as well as in multiple other countries. Evidence for the management of selumetinib-associated adverse events (AEs) is mostly limited to clinical trials and expanded-access programs. We gathered a panel of European healthcare practitioners with clinical experience prescribing selumetinib and/or managing pediatric patients with NF1-PN to provide recommendations on the prevention and management of AEs.

View Article and Find Full Text PDF

Background: Anterior instability of the sternoclavicular joint (SCJ) is a rare but potentially devastating pathological condition, particularly when it occurs in young or active patients. SCJ reconstruction using hamstring tendon autograft is a commonly used treatment option, yet to date results are limited to small case series. Studies on baseline, preoperative factors and their association with postoperative outcome are limited.

View Article and Find Full Text PDF

A pleiotropic recurrent dominant variant causes a complex multisystemic disease.

Sci Adv

September 2024

Laboratoire d'ImmunoRhumatologie Moléculaire, Institut national de la santé et de la recherche médicale (INSERM) UMR_S 1109, Plateforme GENOMAX, Centre de Recherche d'Immunologie et d'Hématologie and Centre de Recherche en Biomédecine de Strasbourg (CRBS), Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

Article Synopsis
  • The study investigates a specific genetic variant in the IP3 receptor that results in a significant disorder affecting multiple systems, characterized by immunodeficiency and disturbed calcium release in cells.
  • The variant (c.7570C>T, p.Arg2524Cys) leads to cellular defects, particularly impacting T cells, and is shown to affect calcium regulation and mitochondrial function, evidenced in laboratory models.
  • Patients exhibited a range of symptoms beyond immunodeficiency, such as ectodermal dysplasia and short stature, suggesting that this genetic mutation plays a unique and broader role in disease compared to previously documented cases.
View Article and Find Full Text PDF
Article Synopsis
  • The study examines a female carrier of a genetic mutation in the IKBKG gene, which is linked to conditions like ectodermal dysplasia and ectodermal dysplasia and immunodeficiency in males and incontinentia pigmenti (IP) in females, leading to a condition called NEMO-NDAS, characterized by autoinflammatory symptoms.
  • Researchers used various techniques, including RT-PCR and nanopore sequencing, to analyze gene expression and protein levels in the patient and her mother compared to healthy controls.
  • Findings revealed that the patient exhibited autoinflammatory symptoms without immunodeficiency, attributed to a non-skewed X-inactivation, alternative splicing of the IKBKG gene, and increased levels of
View Article and Find Full Text PDF

Background: Inter-individual differences in treatment response are marked in multiple sclerosis (MS). This is true for Natalizumab (NTZ), to which a subset of patients displays sub-optimal treatment response. We conducted a multi-centric genome-wide association study (GWAS), with additional pathway and network analysis to identify genetic predictors of response to NTZ.

View Article and Find Full Text PDF