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682 articles
October 202624
A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female.
A 24-year-old woman presented with infantile hypotonia and progressive, asymmetric proximal weakness, including facial and ocular involvement.
A Novel BORCS5 Loss-Of-Function Variant in a Patient With a Rare Neurodevelopmental Disorder.
The BORCS5 is an important and critical component of the BLOC-one-related complex (BORC), involved in kinesin-dependent anterograde lysosomal transport.
Back-Table Reduction of a Deceased Adult Donor Kidney for Transplantation Into a Small Child: A Six-Year Follow Up.
A 15-month-old boy with congenital nephrotic syndrome received a left kidney from a 46-year-old deceased donor. Due to size mismatch, the upper pole of the kidney was resected ex vivo, reducing its volume by one-third.
Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.
A pediatric patient presented with a spinal cord tumor exhibiting prominent granular cell-like features, complicating the initial diagnosis.
Meningococcal meningitis in patients under prolonged eculizumab therapy: Clinical and immunological observations from a case series.
Two patients undergoing prolonged eculizumab therapy developed meningococcal meningitis despite prior vaccination. The clinical presentation included typical symptoms of meningitis, and diagnostic workups confirmed the…
Envenomation by a Razi's viper, Macrovipera razii (Serpentes: Viperidae) in Iran: A neglected public health threat, report of two cases, and clinical implications.
Two men in Iran developed severe local injury after bites from Macrovipera razii. A 36-year-old man bitten on a finger received six vials of polyvalent antivenom but developed progressive necrosis, leaving permanent…
From Genomic Insight to Clinical Impact: Dramatic Response in RET Fusion-positive Pancreatic Cancer.
A 48-year-old woman with pancreatic ductal adenocarcinoma and liver metastases experienced a significant response to selpercatinib after genomic profiling revealed an NCOA4-RET fusion.
First reported case of peritoneal dialysis-associated peritonitis caused by Citrobacter sedlakii.
A 31-year-old female patient undergoing peritoneal dialysis presented with recurrent peritonitis. The infection was identified as being caused by Citrobacter sedlakii, a rare gram-negative bacillus.
How I treat thrombotic microangiopathy in the setting of triggers.
A patient presented with thrombotic microangiopathy during pregnancy, which complicated the diagnosis due to the potential trigger.
Clinical Reasoning: A 13-Year-Old Boy With Acute-Onset Generalized Dystonia, Rostrocaudal Gradient, and Severe Bulbar Dysfunction.
A 13-year-old boy presented with acute-onset generalized dystonia, characterized by progressive slowness, speech loss, dysphagia, rigidity, and dystonic posturing over a month.
Well-differentiated SMARCB1-deficient Pancreatic Malignancy With Indolent Liver Metastases.
A 66-year-old woman underwent distal pancreatectomy for a pancreatic tail malignancy, later developing liver metastases six years post-surgery.
Maxillofacial prosthetic management of oral incompetence following commando surgery and partial maxillectomy: A clinical report.
A patient who underwent commando surgery and partial maxillectomy for squamous cell carcinoma presented with significant facial defects, oral incompetence, and discomfort.
Perioperative Management of an Implanted Spinal Cord Stimulator: A Problem-Based Learning Discussion.
A patient with an implanted spinal cord stimulator (SCS) was scheduled for elective surgery. The case highlighted critical aspects of perioperative management, including the identification of the device, potential…
Hereditary Spastic Paraplegia Type 11: A Comprehensive Case Report.
An 18-year-old woman with no significant medical history presented with a 2-year history of progressive weakness and stiffness in both lower limbs, leading to difficulty in walking.
"Ropi"-Thorax as a Complication of Landmark-Based Paravertebral Pain Catheter Placement: A Case Report.
A 42-year-old female with multiple rib fractures and a hemopneumothorax underwent landmark-guided placement of a paravertebral catheter for analgesia due to obstructed ultrasound visualization.
Pulsed Dye Laser for Sensory Dysesthesias Associated With Chronic Radiation Dermatitis.
Two breast cancer patients with chronic radiation dermatitis (CRD) presented with debilitating sensory dysesthesias unresponsive to conventional treatments.
Cicatricial Ectropion in the Setting of IL-13 Inhibition.
An 81-year-old man with extensive atopic dermatitis was treated with dupilumab, leading to significant improvement. However, he later developed ocular symptoms and inferior cicatricial ectropion of the left lower eyelid.
Exceptional and Durable Response to Selpercatinib in a Patient with Apparently RET -Negative, HRAS -, and NF1 -Mutated Metastatic Medullary Thyroid Carcinoma.
A 50-year-old woman presented with rapidly progressive medullary thyroid carcinoma (Ki-67 30%) and extensive liver and bone metastases.
INDIVIDUAL ARTICLE: Tildrakizumab for Real-World Psoriasis Care: Clinical Lessons From Medically Complex and Underserved Patient Populations.
This case review discusses 16 patients with moderate-to-severe plaque psoriasis treated with tildrakizumab, a monoclonal antibody targeting interleukin-23.
A novel variant of pancreaticobiliary maljunction: Complete opening of the common bile duct into the duct of Santorini in a patient with pancreas divisum.
A 20-year-old woman with recurrent cholestasis and acute pancreatitis presented with fever, jaundice, and abdominal pain; laboratory findings supported cholangitis and pancreatitis.
A Mysterious Case of Giant Scalp Devil's Horn with Intracranial Extension Removed by Surgical Excision.
A 60-year-old male presented with altered consciousness, chronic headaches, blurred vision, and scalp swelling. Imaging revealed a giant cutaneous horn in the scalp with underlying bony erosion and intracranial…
A Novel FAM111A Frameshift Variant Associated With Osteoclast Necroptosis and KCS2-like Syndrome.
Kenny-Caffey syndrome type II (KCS2) is a rare genetic disorder characterized by skeletal abnormalities, impaired growth, and developmental delay.
The Duke CSF-Venous Fistula Confidence Score: Real-World Application on CT Myelography.
A case of a patient with spontaneous intracranial hypotension was evaluated using CT myelography to identify a suspected CSF-venous fistula (CVF).
Persistent influenza A RNA detection in a fatal pediatric case of influenza-associated encephalopathy.
A 9-year-old boy developed fulminant influenza-associated encephalopathy, a life-threatening complication of influenza. Despite life-sustaining support, intensive immunomodulatory treatment, and antiviral therapy…
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