SARS-CoV-2 spike S1-mediated HIF-2α activation in retinal endothelial cells suggests a mechanism contributing to post-COVID endothelial dysfunction.

Neuropsychological aspects of impulse control disorders in Parkinson's disease.

Improvement in spinopelvic parameters after laminectomy and complete factectomies above prior fusion facilitated by posterior arthroplasty: illustrative case.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

Unexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.

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

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

Robo2-Nrxn3 Deficiency: A Molecular Hub Linking Excitation-Inhibition Imbalance to the Pathogenesis of Schizophrenia.

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

Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.

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

Hemoglobinuria-associated acute kidney injury in hemolytic uremic syndrome without renal thrombotic microangiopathy.

Chronic tramadol abuse as a cause of serotonin syndrome.

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.

Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

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

Ocular motor and vestibular examination in the unconscious patient-standard of care.

Clenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report.

Ortho-surgical management of Arhinia syndrome: A case report.

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

Cough-Predominant Laryngeal Hypersensitivity Syndrome in a Middle-Aged Woman: A Case Report.

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

The tight bond between Fanconi anemia and aging.

Bone marrow microenvironment reprogramming in myelodysplastic neoplasms: from pathological mechanisms to targeted therapeutic strategies.

Successful anesthesia management for middle cerebral artery thrombectomy in a patient with asynchronous cardio-cerebral infarction: a case report.

Silent Lung Injury: Acute Respiratory Distress Syndrome without Chest Trauma Following a High-Level Fall.

Evaluation of autonomic dysfunction with dynamic pupillometry in non-obese young women with polycystic ovary syndrome.

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.

Case Report: Safety analysis of blinatumomab consolidation therapy in two cases of acute B-cell lymphoblastic leukemia in complete remission complicated with immune effector cell-associated neurotoxicity syndrome.

Clinical Features and Outcomes of Spontaneous Tumor Lysis in Testicular Germ Cell Tumors: A Case Series From a Cancer Center in Lahore, Pakistan.

Mitotic BLM functions are required to maintain genomic stability.

When Back Pain Is Cardiac: Spontaneous Coronary Artery Dissection in a Male Patient.

SEVERE TOXIC EPIDERMAL NECROLYSIS COMPLICATED BY ACUTE KIDNEY INJURY: DIAGNOSTIC AND THERAPEUTIC CONSIDERATIONS.

Absence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.

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.

Early Childhood-Onset Prosopometamorphopsia Following Respiratory Tract Infection With Serological Evidence of Mycoplasma pneumoniae Exposure: A Pediatric Case Report.

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.

cEEG and rEEG detection rates of prognostic indicators in cardiac arrest patients: a systematic review and diagnostic meta-analysis.

A Presumed Dysphagia Aortica in a Siamese Cat.

Polysplenia syndrome complicated by multiple intrahepatic bile duct stones in an adult: a case report.

Case Report: Neurogenic pulmonary edema coupled with myocardial damage following tenecteplase thrombolysis for acute ischemic stroke.

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Alport syndrome complicated with IgA nephropathy: a case report.

Dual-energy CT based low flow rate, low dose CTPA and lung perfusion in the pulmonary diagnosis of post-COVID-19 syndrome.

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

Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.

Jacob's Syndrome and Hearing Loss: A Case Study.

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

Post-pulmonary embolism syndrome: a practical narrative review.

Medulloblastoma masquerading as tuberculous meningitis in a pediatric patient.

Catatonia an Unexpected Side Effect of Electroconvulsive Therapy: A Case Report.

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

Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.

Impacts of Alagille syndrome on sleep of patients and their caregivers.

Case Report: Atypical neuroleptic malignant syndrome induced by paliperidone palmitate-diagnostic challenges and clinical considerations.

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

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

The eye as a diagnostic key: the ophthalmologist's role in an atypical case of Miller Fisher Syndrome.

Prevalence of Intracranial and Cervical Artery Abnormalities in Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Presenting to an Academic Headache Clinic.

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Optical coherence tomography-derived coronary vessel wall abnormalities in adults long after Kawasaki disease.

Seronegative Autoimmune Encephalitis With Neuropsychiatric Presentation: A Case Report.

BRAT1 gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report.

Beyond the Apex: A Case Series of Mid-ventricular Takotsubo Cardiomyopathy.

Isolated Congenital Hyponychia and Anonychia in a Neonate: A Rare Case.

Phenotype-associated microvascular differences in pediatric Behçet's disease revealed by nailfold videocapillaroscopy.

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

The simplified method for quantifying metabolic syndrome (siMS) score reflects an increased cardiometabolic burden: adiposity, hemodynamics, and HRV findings in young adults.

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

BMI-stratified phenotypes of polycystic ovary syndrome: advances in gut microbiota research and personalized management strategies.

Derivation of an iPSC line using the Sendai virus from a newborn boy with Alagille Syndrome.

Severe Lower Urinary Tract Dysfunction in Otherwise Healthy Children: A Three-Case Series and Narrative Review.

Divergent pathophysiological drivers of polycystic ovary syndrome: insulin resistance independently fuels the hyperandrogenic phenotype whilst neuroendocrine factors dominate non-hyperandrogenic presentations.

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Mapping the clinical correlates of brain hypoperfusion in behavioral variant frontotemporal dementia: insights from a SPECT imaging study.

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Unveiling the Invisible: A Case of Canine Diffuse Microscopic Pancreatic Adenocarcinoma With Normal Imaging and Gross Appearance of the Pancreas Complicated by Sterile Peritonitis and Disseminated Intravascular Coagulation.

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Case Report: Multi-sensory integration treatment for preschool children with intermittent exotropia and idiopathic scoliosis comorbidity.

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

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report.

Hidden overlap between heart failure with preserved ejection fraction and transthyretin amyloid cardiomyopathy: Why it matters and how to avoid missing it.

Mapping the network structure of anxiety, depression, and sleep symptoms in patients with polycystic ovary syndrome.

Tacrolimus-induced reversible posterior leukoencephalopathy syndrome in a child with nephrotic syndrome: a case report.

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

[68Ga]Ga-DOTATATE PET/CT and PET/MR enhances the detection of pituitary ACTH-secreting adenomas in cushing's disease.

Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice.

POEMS syndrome with cardiovascular lesions as the initial manifestation: a case report and literature review.

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

Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Tolosa-Hunt Syndrome Presenting as Painful Unilateral Ophthalmoplegia in a 65-Year-Old Woman: A Case Report.

Comparison of atrial arrhythmias and autonomic function parameters according to atrial septal defect closure techniques.

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

Advances in pediatric video capsule endoscopy: current applications and future directions.

The "polyglandular crisis" behind recurrent hyponatremia: misdiagnosis of a case of autoimmune polyglandular syndrome type 2 and clinical lessons learned.

Explainable machine learning model to predict refeeding syndrome in patients with severe acute pancreatitis.

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

Chronic Tonsillitis as a Focal Infection: A Decade-Long Case Involving Severe Systemic Symptoms.

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

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

Clinical evaluation of pediatric olfactory disorders: a review from etiology to management.

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

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.

The interactions between autophagy and immune in the liver-adipose-ovary circuit of polycystic ovary syndrome.

From tradition to healing: the promise of acupuncture in managing chronic fatigue syndrome.

Surgical management strategies and clinical outcomes of cutaneous skeletal hypophosphatemia syndrome: a case series.

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

[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].

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

Beyond pruritus in Alagille syndrome: potential effects of maralixibat on fibrosis and portal hypertension-insights from two case studies.

The impact of age on clinical features and fertility outcomes in patients with polycystic ovary syndrome: a secondary analysis based on the PCOSAct trial.

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Multi-omics elucidation of Lactiplantibacillus plantarum NKK20 in preventing PCOS via the gut-ovary axis: SCFAs-mediated microbiota-metabolite-immune crosstalk.

Exploring the intricate interplay between metabolic abnormalities and multidimensional cognitive impairment in stable schizophrenia patients.

The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.

Case Report: Diabetic ketoacidosis in a patient with Klinefelter syndrome: a rare and complex presentation.

Case Report: Ramsay Hunt syndrome with simultaneous bilateral vestibular dysfunction as the initial manifestation in a patient with a history of breast cancer.

Diagnostic biomarkers for differentiating AQP4-IgG- negative NMOSD from other nervous system autoimmune disorders: a retrospective study.

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.

Serum and cerebral folate are normal in Down Syndrome Regression Disorder.

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

Case Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications.

The right heart perspective in chronic cardiorenal syndrome: the key role of right heart function and tricuspid regurgitation innovation.

Phalangeal bone growth and implications in Turner syndrome.

The role of cognitive function in predicting metabolic risk in schizophrenia: a multi-model comparison incorporating clinical features.

Association of Hyperbilirubinemia with Lipid Profile and Lipid-Related Diseases: A Large Community-Based Cohort Study.

Metabolic Dysfunction at the Core: Revisiting the Overlap of Cardiovascular, Renal, Hepatic, and Endocrine Disorders.

Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.

Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.

Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Capgras Syndrome Triggered by Marital Separation: A Rare Case of Trauma-Induced Delusional Misidentification.

Transient ischemic attack and acute ischemic stroke: evidence of altered corrected index of cardiac electrophysiological balance.

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

Insulin resistance and atrial fibrillation: from disease onset to post-ablation outcomes: a systematic review and meta-analysis.

Parental knowledge and barriers to cleft lip and palate care: a cross-cultural study from the Middle East and South Asia.

Polysplenia syndrome with semi-annular pancreas, midgut malrotation and interrupted inferior vena cava: A rare adult case report.

[Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novoNLRP3 variant].

Association between cranial morphology and dysgnathias in adolescents and adults: A prospective case-control study.

A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome.

Solitary fibrous tumor of the chest wall with Doege-Potter syndrome: a case report.

Structural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study.

[Moebius syndrome after maternal misoprostol use].

Static and dynamic changes of natural head position improve vertical eye canting of patients with non-syndromic asymmetric facial deformities after orthognathic surgery.

The gut microbiota-brain-CAR T cell axis: a systematic review of gut microbiome modulation and its impact on neurological complications and treatment responses in CAR T cell therapy.

Cardiovascular abnormalities in multisystem inflammatory syndrome in children related to COVID-19.

Hypercalcemia of malignancy in a dog with cutaneous apocrine gland carcinoma and malignant myoepithelioma.

Cardiac metastasis of urothelial carcinoma mimicking ST-elevation myocardial infarction.

Functional decline after severe COVID-19: duke activity status index for preoperative risk assessment.

The distinct contribution of sternotomy to the systemic inflammatory response during children's heart surgery.

Persistent Sciatic Artery as a Rare Cause of Sciatic Neuropathy: A Case Report.

Biomarker discovery in Lennox-Gastaut syndrome: Advances and challenges in electrophysiological, genetic, neuroimaging, and neuroinflammatory approaches.

Identification and functional analysis of biallelic loss-of-function variants of WNT7B in a Chinese family affected with PDAC syndrome.

Real-world outcomes of tisagenlecleucel treatment in patients with relapsed or refractory large B-cell lymphomas: a nationwide registry.

Beyond the X's and Z's: Sleep disorders in Klinefelter syndrome from case report to cohort and literature review.

Immune reconstitution inflammatory syndrome accompanied by transient immune and chromosomal abnormality after azathioprine exposure in utero.

Intrapartum recognition and management of fetal inflammation.

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

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

Syndrome-specific and familial imaging traits in juvenile absence epilepsy.

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

Ocular findings in children with Juvenile Systemic Lupus Erythematosus in a Brazilian Tertiary-Care Hospital.

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.

A study on the nutritional status and body composition of children with Hutchinson-Gilford progeria syndrome.

Dandy-Walker syndrome with hydrocephalus undergoing VPS or CPS? A single-center retrospective study.

Vascular Eagle's syndrome: difficult diagnosis in patient with recurrent transient ischaemic attack.

Structure of SHOC2-KRAS-PP1C complex reveals RAS isoform-specific determinants and insights into targeting complex assembly by RAS inhibitors.

Neuropeptides and the Autonomic Nervous System in Prader-Willi Syndrome.

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.

"Less is More"- A Minimalistic Surgical Intervention to Correct the Right Upper Limb Deformity in an Isolated Right Radial Club Hand: A Case Report.

LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.

Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Surgical Correction of a Severe Bilateral Cleft Foot Using a Diamond Incision and Cannulated Screw Fixation: A Case Report and Literature Review.

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.

EEG and clinical findings in pediatric epilepsy and control groups using video-based pattern stimulation.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

I-FABP, citrulline and non-invasive liver dysfunction indices in patients with depression - cross-sectional study results.

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.

Tumor Lysis Syndrome Induced by Selpercatinib in Rearranged During Transfection (RET) Fusion-Positive Non-Small-Cell Lung Cancer.

Adipose-androgen crosstalk in polycystic ovary syndrome: mechanisms and therapeutic implications.

Zika Virus Disease in Pregnancy: A Case Series from the Kerala Outbreak.

Hematological Conditions in Infants With Trisomy 21.

Disproportionality Analysis of Adverse Events Associated with IL-1 Inhibitors in the FDA Adverse Event Reporting System (FAERS).

Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models.

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.

Trigger Factors in Recurrent Corneal Erosion Syndrome.

A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects.

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series.