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682 articles
September 202624
FOXG1 syndrome: genetic background revealed by trio WES in case of a critically ill neonate.
A male neonate presented with hypotonia and abnormal respiratory effort at birth. Due to the serious and non-specific clinical signs, trio whole-exome sequencing (WES) was performed, revealing a de novo heterozygous…
Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.
A patient with biallelic VPS16 variants presented with profound developmental delay, early-onset epilepsy, and spasticity, alongside multisystem issues such as recurrent infections and neutropenia.
Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.
An adolescent patient with a Bartter-like phenotype presented with progressive nephrocalcinosis, hypercalciuria, and skin autoinflammation.
A rare case of hereditary spastic paraplegia with homozygous mutation in the ZFYVE26 gene.
A 19-year-old female with consanguineous parents presented with gait disturbances, lower limb spasticity, and dysarthria. Neurological examination revealed motor and mental retardation, bilateral lower limb spasticity…
Total Left Main Occlusion ST-Elevation Myocardial Infarction Complicated by Cardiogenic Shock and Delayed Sinus Node Dysfunction.
A 58-year-old man presented with severe chest pain due to an extensive anterolateral STEMI caused by total occlusion of the left main coronary artery.
Combined mastectomy and beating heart coronary artery bypass grafting: a single-session surgical approach.
A woman in her 70s with papillary ductal carcinoma in situ underwent a combined surgical approach due to severe coronary artery disease.
Occipitocervical fusion and decompression in Morquio syndrome: a case report and literature review.
A 10-year-old girl with Morquio syndrome presented with progressive quadriparesis due to severe cervical myelopathy. She underwent occipitocervical decompression and fusion, which led to significant neurological…
Segmental sternal resection for metastatic ovarian cancer: surgical technique and clinical outcome.
Isolated sternal recurrence from ovarian cancer is exceptionally rare, and its optimal surgical management remains poorly defined.
Metastatic dedifferentiated malignant melanoma with spindle cell morphology.
A man in his early 60s presented with a slow-growing skin lesion on his back, which had been present for two decades, and a newly noticed right axillary mass.
Crohn's disease unmasks pulmonary sarcoidosis on biologic screening: dual granulomatous pathology responsive to infliximab.
A man in his 30s with a history of ileal Crohn's disease was diagnosed with pulmonary sarcoidosis during routine pre-biologic screening, despite being asymptomatic.
Phytate and L-methionine for preventing recurrence of infection renal stones.
This report details a series of cases where patients with recurrent infection renal stones and brushite stones were treated with a combination of phytate and L-methionine.
Localised cutaneous leishmaniasis in an immunosuppressed host: the role for adjuvant photodynamic therapy after incomplete amphotericin B response.
An immunocompromised man in his 70s presented with a 15-year verrucous plaque on the right hallux, initially misdiagnosed as squamous cell carcinoma.
False Passage During Single-Lung Ventilation in a Tracheostomized Patient: Intraoperative Recognition and Rescue.
A 63-year-old man with a recent tracheostomy due to cervical cellulitis underwent urgent thoracotomy for mediastinal debridement.
Cutaneous T-cell lymphoma emerging during long-term dupilumab therapy in a patient with longstanding atopic diathesis: diagnostic challenges and mechanistic considerations.
A woman in her 40s with a long history of atopic dermatitis developed patch-stage mycosis fungoides after over 5 years of stable dupilumab therapy.
Abemaciclib and lenalidomide presenting with central retinal artery occlusion in a patient with breast cancer and multiple myeloma: a possible treatment-related association.
A woman in her late seventies with metastatic hormone receptor-positive breast cancer and multiple myeloma experienced sudden, painless vision loss in her right eye while on long-term abemaciclib and lenalidomide.
Ventral Cervical Spinal Schwannoma Presenting as Progressive Myelopathy.
A male in his 20s presented with a two-year history of progressive paraparesis and urinary incontinence. Neurological examination revealed signs of spasticity and reduced lower-limb power.
Unlocking the airway through mandibular distraction followed by TMJ release in bilateral TMJ ankylosis complicated by severe OSA.
An early adolescent with bilateral TMJ ankylosis presented with severe obstructive sleep apnoea (OSA), facial asymmetry, and a limited mouth opening of 2 mm.
Primary adrenal lymphoma presenting as primary adrenal insufficiency.
A man in his late 60s presented with symptoms of adrenal failure, including anaemia and hypercalcaemia. Initial tests indicated adrenal insufficiency, and imaging showed bilateral adrenal enlargement.
Helping or controlling? A multi-method case study of a mother-daughter dyad and their interactions during trauma-focused therapy.
This case study involved a 14-year-old girl undergoing intensive trauma-focused therapy, assessed alongside her mother over five weeks.
Type A Insulin Resistance Syndrome Due to a Pathogenic Variant in the INSR Gene.
A woman in her 40s, initially diagnosed with type 1 diabetes, presented with a 30-year history of fluctuating insulin sensitivity and later developed insulin resistance, despite being non-obese.
Non-Arteritic Anterior Ischaemic Optic Neuropathy Associated with Semaglutide use.
A woman in her 70s with vascular risk factors presented with a three-day history of progressive left-sided visual disturbance. Examination revealed a left relative afferent pupillary defect and inferior quadrantopia.
Delayed cardiac conduction disease in a young adult following childhood Chagas infection.
A Bolivian man in his 30s presented to the emergency department with non-exertional chest pain and intermittent second-degree atrioventricular block.
Buckle infection and exudative retinal detachment following a deep scleral bite: management and outcome.
During a standard 279 scleral buckle (SB) procedure, an inadvertent deep scleral suture bite occurred. On postoperative day (POD) 5, the patient presented with pain, reduced vision (counting fingers close to the face)…
Effects of Ciprofol- versus Remimazolam-Based Total Intravenous Anesthesia on Postoperative Nausea and Vomiting After Laparoscopic Cholecystectomy: A Randomized Controlled Trial.
Postoperative nausea and vomiting (PONV) remains common after laparoscopic cholecystectomy. Whether ciprofol-based anesthesia reduces PONV compared with remimazolam-based anesthesia remains unclear.
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