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643 articles
October 202624
A Lynch syndrome patient with multiple cancers who was found to have a novel pathogenic variant generating aberrant splicing of MLH1.
A Japanese woman with colorectal, gastric, and endometrial cancers was found to carry the germline MLH1 variant c.545G>T (p.Arg182Met), initially classified by a clinical testing laboratory as a variant of uncertain…
Contrasting clinical trajectories in two ALS patients with rare FUS variants: implications for variant interpretation, penetrance, and trial readiness.
The report describes two patients with amyotrophic lateral sclerosis (ALS) carrying rare FUS variants. Their clinical courses differed, despite the association of FUS-related ALS with relatively aggressive disease.
Histologically Confirmed Brain Metastasis Arising From Giant Cell Tumor of Bone: an Uncommon Entity and a Challenging Condition.
A 39-year-old patient with no significant medical history had a giant cell tumor of bone (GCTB) in the left distal femur, treated with preoperative denosumab and resection with prosthetic reconstruction.
Phaeohyphomycosis in a Solid Organ Transplant Recipient: Case Report of a New Pathogenic Species of Kirschsteiniothelia.
A 63-year-old immunocompromised recipient of a combined heart-lung transplant developed a subcutaneous thigh lesion. Surgical debridement and histopathology indicated a deep fungal infection.
Extensive Aplasia Cutis Congenita with Calvarial Defect and Superior Sagittal Sinus Exposure in a Term Neonate: A Case Report of Successful Healing with Conservative Management.
A term male neonate presented with an approximately 4 × 4 cm midline frontoparietal scalp defect involving the skin and calvarium, with the superior sagittal sinus exposed.
Perioperative Nursing Care of a Patient With 70% TBSA Second- To Third-Degree Flame Burns Complicated by Pseudomonas aeruginosa Infection: A Case Report.
A patient with 70% TBSA second- to third-degree flame burns developed a Pseudomonas aeruginosa infection and required surgical care, including back debridement.
Ilioinguinal-Transversus Abdominis Plane (I-TAP) Block with Liposomal Bupivacaine for Analgesia After Cesarean Delivery: A Randomized Controlled Trial.
Cesarean delivery is frequently associated with suboptimal postoperative analgesia. While PROSPECT guidelines recommend transversus abdominis plane (TAP) block for post-cesarean analgesia, conventional TAP block may…
Case Report: Atypical femoral fractures in adult-onset hypophosphatasia treated with low-dose asfotase alfa and adjunctive teriparatide therapy.
A 52-year-old woman presented with progressive pain and bilateral atypical femoral fractures. Low alkaline phosphatase, markedly elevated pyridoxal 5'-phosphate, prior metatarsal fracture, premature tooth loss, and…
Tularemia Takes a Tropical Turn: A Rare Case of Typhoidal Tularemia in Florida.
A 36-year-old man in Florida with no significant medical history or recent travel had six months of fevers, malaise, rigors, fatigue, night sweats, and unintentional 30-pound weight loss.
Bobble-Head Doll Syndrome Caused by Aqueductal Web-Associated Obstructive Hydrocephalus in an Adult: A Case Report with Video.
A 24-year-old man developed progressive memory impairment, gait instability, urinary incontinence, and an irregular side-to-side (“no-no”) head tremor that improved with a sensory trick.
68Ga-DOTATATE PET/CT Detection of Hypertrophic Osteoarthropathy in a Pediatric Patient With Neuroblastoma Following Anti-GD2 Immunotherapy.
A 5-year-old boy with high-risk neuroblastoma underwent 68Ga-DOTATATE PET/CT to assess response after anti-GD2 immunotherapy.
Probable vestibular paroxysmia mimicking benign paroxysmal positional vertigo of the superior semicircular canal in the presence of a neurovascular conflict: a case report and review of the literature.
A 52-year-old woman presented with positional vertigo and was initially diagnosed with right superior semicircular canal benign paroxysmal positional vertigo (BPPV).
Effect of a Single Subanesthetic Dose of Esketamine on Gastrointestinal Recovery After Laparoscopic Colorectal Cancer Surgery: A Randomized, Outcome-Assessor-Blinded, Placebo-Controlled Trial.
Postoperative gastrointestinal dysfunction (POGD) and Postoperative gastrointestinal intolerance (POGI) remain a critical challenge in abdominal surgery, particularly for colorectal cancer patients undergoing…
Case report: successful use of repotrectinib in a ROS1 fusion-positive lung adenocarcinoma patient with severe renal insufficiency and prior tyrosine kinase inhibitor treatment failure.
A 69-year-old woman with advanced lung adenocarcinoma harboring an SDC4–ROS1 fusion had bilateral pulmonary lesions, mediastinal lymphadenopathy, and pleural effusions.
Successful treatment of hairy cell leukemia with TP53 abnormality using cladribine combined with low-dose rituximab: a case report and literature review.
An elderly man with classical hairy cell leukemia (HCL) had BRAF V600E positivity, a TP53 deletion detected by fluorescence in situ hybridization, and bone marrow fibrosis.
Multiple Sclerosis During Pregnancy and the Postpartum Period: Diagnostic and Multidisciplinary Challenges in Two Cases.
The report describes two pregnant women with progressive focal neurological symptoms and brain MRI abnormalities concerning for central nervous system demyelination.
Recurrent Ovarian Torsion Despite Previous Oophoropexy in a 9-Year-Old Prepubertal Girl: A Pediatric Emergency Department Perspective.
A 9-year-old prepubertal girl with prior left ovarian torsion treated by laparoscopic detorsion and oophoropexy presented with severe intermittent left-sided abdominal pain and vomiting.
Parkinsonism with Reduced Striatal Uptake on DAT-SPECT in a Patient Harboring a Novel KCND3 Variant.
A Japanese patient with a novel KCND3 missense variant classified as a variant of uncertain significance had childhood-onset, slowly progressive cerebellar ataxia and asymmetric parkinsonism, a phenotype compatible with…
Clinical features of cough syncope: a systematic review.
The article presents five cases of cough syncope and reviews published clinical characteristics, comprising 60 patients with a mean age of 56 ± 15 years; 91% were male.
A 45-Year-Old Woman With 30-Year History of a Nodule of the Earlobe Diagnosed as Lupus Vulgaris (Cutaneous Tuberculosis).
A 45-year-old woman had a painless, intermittently itchy lesion on her right earlobe for more than 30 years. It appeared as a red, thickened plaque with yellow papules and pustules.
Silent danger behind the forehead: Pott's puffy tumour presenting without systemic symptoms.
A man in his 50s developed progressive, painless forehead swelling despite multiple courses of antibiotics, without systemic symptoms.
In vitro correction of venom-induced coagulopathy in Daboia russelii envenomation demonstrated using tranexamic acid-modified rotational thromboelastometry.
A man in his late 40s presented soon after Russell’s viper envenomation with local signs and a prolonged modified Lee and White clotting time, despite normal prothrombin and activated partial thromboplastin times.
Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).
A three-year-old girl presented with attenuated protein-losing enteropathy and was found to carry compound-heterozygous missense variants in PLVAP.
Scleral perforation in a young adult with Burkitt lymphoma.
A man in his 20s with Burkitt lymphoma receiving chemotherapy was referred for lagophthalmos and left facial nerve palsy. Weeks later, he developed acute scleral perforation.
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