Metabolic syndrome and serum uric acid level in children and adolescents with hypertension.

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

Tailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.

Trousseau's syndrome with cerebral infarction as the first manifestation.

Case Report: Maculopathy following standard dose intracameral cefuroxime injection during ICL surgery.

Prevalence and Risk of Falls and Fractures in the Idiopathic Inflammatory Myopathies: A Cross-Sectional Study of 470 Patients.

PARTIAL: study protocol for a clinical and cost-effectiveness of complex PARTIAL vs radical nephrectomy for clinically localised renal cell carcinoma randomised trial.

Partial Anomalous Pulmonary Venous Return in Lung Cancer Surgery: Diagnostic Challenges and Surgical Considerations in Two Cases.

Multiple primary melanomas with numerous pink-to-tan papules and polydactylous onychopapillomas.

Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.

Nonatherosclerotic Subclavian Steal Syndrome Due to Brachiocephalic Trunk Kinking in an Elderly Woman: A Case Report.

Follicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.

[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].

Mycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.

The Optimal Management Strategy for IGA Nephropathy Patients With Different Clinical Presentations.

Efficacy of device-measured physical activity on cardiometabolic outcomes among individuals with abnormal glucose tolerance in Ghana: A pilot randomized controlled trial.

Adipose tissue distribution and metabolic profile of young individuals with turner syndrome.

Symptomatic improvement in fibromyalgia after treatment of comorbid attention deficit hyperactivity disorder: a case report.

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.

[Effect of the Degree of Myelofibrosis on the Therapeutic Efficacy and Survival in Patients with Myelodysplastic Syndromes].

Clinical Profile and Surgical Outcomes of Bilateral Duane Syndrome with Exotropia.

Utility of the Early Sjögren Antibody Panel as a Diagnostic Marker for Sensory Neuropathy.

An unusual presentation of portal biliopathy manifesting as chronic abdominal pain as a delayed post-splenectomy complication: a case report.

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.

MaiMenDong Decoction Alleviates Primary Sjögren's Syndrome by Dual Suppression of Inflammation and Immune Dysregulation: A Synergy of Network Pharmacology and NOD/Ltj Mouse Studies.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.

Persistent physical symptoms not explained by structural abnormalities or disease processes: a primary care approach to promote recovery.

Predictive factors for severity and poor treatment response in children with Evans syndrome: A retrospective cohort study.

Efficacy and safety of Dysmenorrhea Patch acupoint application in women with primary dysmenorrhea: a randomized double-blind controlled trial.

Prognostic implications of genetic and transcriptomic abnormalities in MDS according to IPSS-R, IPSS-M, and the International Consensus Classification.

[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.

The tight bond between Fanconi anemia and aging.

Immunophenotypic Stratification of Primary Sjögren's Syndrome Reveals Distinct Lymphocyte Profiles and Clinical Manifestations.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Predictive value for intravenous immunoglobulin resistance of Kobayashi and Kawanet scores in 722 children with Kawasaki disease across diverse ethnic backgrounds (KIWI study): an international cohort study.

QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

Case Report: Whole-genome sequencing of urothelial carcinoma in an adult patient with CLOVES syndrome reveals a lack of PIK3CA mutation and a genomic landscape consistent with urothelial carcinoma.

Results of a Phase 1 Study Assessing the Effect of CIN-102, a Novel Formulation of the Dopamine Receptor Antagonist Domperidone Designed to Treat Gastroparesis, on Cardiac Repolarization in Healthy Volunteers.

A Comparative Effectiveness Study of Lorazepam or IVIg Versus no Treatment for Down Syndrome Regression Disorder.

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.

Estrogen deficiency and risk of hearing loss in pediatric Turner syndrome.

Do Patients With Cleft Lip and Palate Have an Increased Risk of Short-Term Complications After Le Fort I Osteotomy?

"Pediatric Brown syndrome in the setting of hypercholesterolemia: case report of a possible new association".

Clinical and cost-effectiveness of eculizumab withdrawal in atypical haemolytic uraemic syndrome: the SETS aHUS multi-centre, open-label, prospective and single-arm study.

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

Intersecting Autoimmunities: ANCA and Anti-GBM Overlap in a Patient With Sjögren's Disease.

Primary membranoproliferative glomerulonephritis: natural history, pathogenesis, and treatment.

[Kallmann syndrome in a girl caused by a novel CHD7 variant].

Acquired bisalbuminemia associated with hepatobiliary disease: a two-case report and diagnostic implications.

Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.

Understanding atrial failure: from diagnosis to clinical implications.

Efficacy of bumetanide for cognitive improvement in children and adolescents with Down syndrome: study protocol of a randomised, double-blind, placebo-controlled trial.

Evaluating the real-world safety of cholestyramine for the treatment of hyperlipidemia: disproportionality analysis of FAERS data.

[When kidney disease is genetic: clues for the primary care physician].

Transcranial Magnetic Stimulation in Parkinson's Disease and Parkinsonian Syndromes: A Narrative Expert Review.

RNAi-Induced Expression of Paternal UBE3A.

Mitochondria-Associated MicroRNAs: Emerging Roles in the Pathogenesis of Parkinson's Disease.

Development of a Predictive Model for Cardiac Dysfunction in MIS-C Patients Utilizing Laboratory Biomarkers.

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.

Neck Circumference as a Practical Anthropometric Biomarker for Visceral Adiposity and Metabolic Dysregulation in Type 2 Diabetes.

A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.

Seronegative Autoimmune Encephalitis With Neuropsychiatric Presentation: A Case Report.

A Case of Prostatic Mixed Germ Cell Tumor Showing Pagetoid Spread Into the Vas Deference in a Patient With Klinefelter Syndrome.

Neutrophil extracellular traps in gynecological disease: pathogenic mechanisms and therapeutic opportunities.

Cardiogenic shock managed with phlebotomy: an unusual case of end-stage cardiac hemochromatosis.

Unmasking Wilson's Disease Through Severe Psychiatric Manifestations: A Case Report.

Trisomy 13 as a risk factor for pulmonary hypertension induced by diazoxide.

A pediatric case of idiopathic harlequin syndrome.

Clinical Characteristics and Management of Two Cases of Complete Androgen Insensitivity Syndrome With Germ Cell Tumors.

Corrigendum "Role of reactive oxygen species in polycystic ovary syndrome: Signalling pathways, mechanisms, and traditional Chinese medicine treatment strategies" [Int. Immunopharmacol. 173 (2026) 116251].

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

Protective role of PASH-1 in CGG repeat-driven RNA and protein toxicity in FXTAS.

Effects of Catecholamines on Bone and Mineral Metabolism in Patients with Pheochromocytoma and Paraganglioma.

A case report on atypical chromosomal variations in Turner syndrome.

A rare case of Kallmann syndrome in a female with pulmonary valve stenosis: Coincidence or genetic link?

In vivo base editing of Chd3 rescues behavioural abnormalities in mice.

Non-thyroidal illness (euthyroid sick) syndrome: Laboratory aspects and clinical significance in critically ill patients and other diseases - A narrative review.

Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort.

The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.

Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation.

Outcomes of Abdominal Exploration in ECMO-Supported Patients: A Multicenter ICU Cohort Study.

Differential disruption of gonadal development by DEHP and paracetamol in male and female Wistar rats.

The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment.

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

Left Ventricular Noncompaction Syndrome.

The CARMUCI Study Design: A Double-Blind, Cross-Over Sham-Controlled Trial of Indoor Air Purification in People With Cystic Fibrosis and Primary Ciliary Dyskinesia.

Open Fetal Versus Postnatal Repair of Spina Bifida Aperta-A Comparison of Neonatal Outcomes.

Quantitative Understanding of Advanced Novel Imaging Techniques for Fasciitis and Biosignature Yield (Quantify): Protocol for a Cross-Sectional Diagnostic Study.

Secondary Thoracoabdominal Aortic Replacement Following Total Arch Repair With a Sutureless Integrated Stented Graft in Marfan Syndrome: A Case Report.

Hemophagocytic Lymphohistiocytosis Secondary to Immunotherapy Toxicity in a Patient With Breast Cancer: A Case Report.

Prognostic Stratification Based on Left Ventricular Diastolic Dysfunction and Coronary Microvascular Dysfunction in Patients Without Functional Coronary Artery Stenosis.

A Pediatric Case of Stiff-Person Syndrome: Presentation and Comparative Analysis.

Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.

Inpatient initiation of tuberculosis preventive therapy with 1 month of isoniazid and rifapentine for adults with advanced HIV disease and cryptococcal meningitis (IMPROVE): a non-inferiority, randomised controlled trial.

Molecular convergence enables precision medicine for pediatric low grade gliomas.

[Role of hyaluronic acid synthases in female infertility-related diseases].

Successful Treatment of Multifocal Demyelinating Sensory-Motor Neuropathy (Lewis-Sumner Syndrome) With Rituximab: A Case Report.

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

Impact of β-Blockers on the Risk of Low-Birth-Weight Infants in Women with Long QT Syndrome or Marfan Syndrome: A Single-Center Retrospective Study from 2008 to 2022 in a Tertiary Care Center.

Endocrine Hypertension: The Role of Imaging in Diagnosis and Management.

Menstrual Dysfunction Is Associated With Elevated Liver Enzymes in Adolescent Females: A United States Population-Based Study.

Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.

[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review].

[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia].

Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.

Presentation and Outcomes of CNS Tumors Associated With Phakomatoses Syndromes From a Specialized Neuro-Oncology Practice in India.

[Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature].

Renal biopsy findings in psoriasis patients with renal involvement: a descriptive clinicopathologic study.

Clinicopathologic and Molecular Features of Tubo-Ovarian Carcinosarcomas With an Emphasis on p53 Wild-Type, KRAS-Mutated Tumors.

Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report.

Neurotransmitter abnormalities in primary tic disorders and Tourette syndrome.

Incidence of Ocular Abnormalities in Metopic Craniosynostosis: Cranial Vault Reconstruction Versus Endoscopic Suturectomy.

What's new about angiotensin receptor blocker (ARB) therapy for Marfan syndrome: A narrative review.

A Case of Complex Syndactyly with Apert Syndrome Treated with a Two-stage Interdigital Reconstruction Using Adipose Flaps.

Electrodiagnostic Approach to Defects of Neuromuscular Transmission.

[Key updates in the 2025 ERS/ATS guideline for the diagnosis of primary ciliary dyskinesia].

[Expert consensus on diagnosis and treatment of adult primary ciliary dyskinesia (2025 edition)].

Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review.

Effects of Ziziphus jujuba, metformin, and myoinositol on pregnancy rates and metabolic parameters in infertile women with PCOS: a randomized controlled trial.

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Vanishing twin syndrome and fetal reduction adversely affect perinatal outcomes following IVF-FET: an analysis based on 33,238 ongoing pregnancies.

Long-Term Outcomes and Risk Factors for Mortality After Single Ventricle Palliation for Asplenia Syndrome.

Evaluating the patterns of use and safety of lenalidomide treatment in myelodysplastic syndromes: a European, observational multi-registry study.

Atypical Presentation of a Preeclamptic Patient With Severe Features and Auditory Hallucinations.

Simultaneous occurrence of bilateral retroperitoneal neuroblastoma and bifocal malignant mixed germ cell tumor in a pediatric patient with 16p11.2 microdeletion syndrome: a case report.

Dose-Dependent Effect of the Histamine 1 Receptor Antagonist Ebastine in Patients With Non-Constipated Irritable Bowel Syndrome.

Case Report: Van Wyk-Grumbach syndrome presenting as vaginal bleeding: diagnostic value of pituitary and pelvic imaging.

Prevention of Respiratory Infections in Children with Congenital Heart Disease: Current Evidence and Clinical Strategies.

Directions and Perspectives for Preventive Activities in Primary Care-Patients' Health-Promoting and Health-Risk Behaviours.

Implementation of an Electronic Medical Record-Embedded Refeeding Risk Order Set and Its Impact on Refeeding Syndrome Among Adults Receiving Enteral Nutrition: A Retrospective Cohort Study in an Inpatient Hospital Setting.

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

Recent advances in the mechanisms and treatment of cuproptosis in autoimmune diseases.

Platelet activation, aspirin, and cancer: From basic science to clinical trials.

Occlusal Dysesthesia (Phantom Bite Syndrome): A Scoping Review.

Current understanding of mitral valve prolapse syndrome and related arrhythmia: State-of-the-Art Review.

Microglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi-Goutières syndrome neuropathology.

Rodent models of genetic epilepsy and its association with neurocognitive impairment- a systematic review.

CTLA-4 haploinsufficiency presenting with chronic myeloid leukemia, bullous pemphigoid, and PLA2R-positive membranous nephropathy: a case report.

Sputum from Individuals with Primary Ciliary Dyskinesia Drives M2-like Macrophage Polarization.

Role of reactive oxygen species in polycystic ovary syndrome: signalling pathways, mechanisms, and traditional Chinese medicine treatment strategies.

Integration of focused cardiac ultrasound in the HEAR and HEART scores in emergency department patients with chest pain.

Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.

Beyond Snoring: Unexpected Presentation of Obstructive Sleep Apnea.

Sleep-Disordered Breathing in Newborns After Myelomeningocele Repair.

Under Pressure: Increased Intracranial Pressure in Infants and Children. Presented at the 2024 AOC/AACO/AAO Sunday Symposium.

Clinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1-4 of DRC1: A multicenter retrospective cohort study.

Efficacy of radiotherapy and role of adjunctive immunochemotherapy in POEMS syndrome with solitary plasmacytoma.

Quantifying the risks: a systematic review and proportional meta-analysis of the perioperative complications of posterior cranial vault distraction osteogenesis in patients with craniosynostosis.

Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.

Immune thrombocytopenia in patients with connective tissue disease.

The Diagnostic and Prognostic Role of Ultrasonography in Cubital Tunnel Syndrome: Results on a Consecutive Series of 100 Patients.

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Effect of electroacupuncture on metabolic level and quality of life in patients with obese polycystic ovary syndrome: a randomized controlled trial.

Sex Hormones and Repolarization Dynamics During the Menstrual Cycle in Women Treated With QT-Prolonging Drugs.

Behçet-like Syndromes: A Comprehensive Review.

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.

Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.

Coronary artery abnormalities in Kawasaki disease with BCG site reactivation.

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity.

A Thorough QT Study to Assess the Effects of Milvexian on Cardiac Repolarization in Healthy Participants.

Investigation of a raised ferritin-hereditary haemochromatosis or not?

[Clinical analysis of neurologic complications in neonates during extracorporeal membrane oxygenation support].

Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7.

Granulomatous Lymphocytic Interstitial Lung Disease as the Initial Manifestation of Common Variable Immunodeficiency in a Young Adult.

Primary pulmonary hypoplasia masquerading as pneumonia in a preterm neonate and creating a diagnostic challenge: a case report.

Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.

Low-Grade B-cell Lymphoma in Primary Sjögren's Syndrome: A Case Report.

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.

Functional imaging reveals cerebral microvascular dysfunction in primary antiphospholipid syndrome: Pathophysiologic insights and translational implications.

Prevalence of Central Sensitization in Postural Tachycardia Syndrome.

Resolution of Noncardiogenic Pulmonary Oedema and Suspected Uraemic Pneumonitis in a Dog With Acute Kidney Injury Treated by Haemodialysis.

Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report.

Sutureless Intrascleral One-piece Intraocular Lens Fixation for Ectopia Lentis in Marfan Syndrome.

Antibody Deficiency in Xeroderma Pigmentosum.

Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.

A Critical Assessment of Antenatal Monitoring for Fetal Well-Being in Down Syndrome Pregnancies.

Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis.

Improvement of severe hypertriglyceridemia in atypical subtype 4 partial lipodystrophy with volanesorsen.

Primary cilia and BBS4 are required for postnatal pituitary development.

A CASE OF REFRACTORY IRON DEFICIENCY ANEMIA REVEALING HEREDITARY HEMORRHAGIC TELANGIECTASIA.

Incidental Finding of Secondary Focal Segmental Glomerulosclerosis in Renal Allograft due to Renal Artery Stenosis.

[Randomized, double-blind, double-simulated, parallel controlled clinical trial of Dingkundan Oral Liquid in treating primary dysmenorrhea with cold coagulation and blood stasis].

Multi-omics identifies lipid accumulation in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cell lines: a case-control study.

[A rare case of adrenal hemangioblastoma and literature review].

Pearls & Oy-sters: Reversible Leukoencephalopathy and Parkinsonism Due to CNS Involvement in Cryoglobulinemia.

Clinical characteristics of two companion canines with severe fever with thrombocytopenia syndrome virus (Bandavirus dabieense) in Seoul, Republic of Korea.

[Partial D2 receptors agonists - pharmacological aspects, metabolism and use in the treatment of schizophrenia-related psychoses].