Medicine
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Meta Analysis
The effect of 4-phenylbutyrate and sodium 4-phenylbutyrate on genetic mutation diseases: A meta-analysis.
To determine the efficacy of 4-phenylbutyrate (4-PB) or sodium 4-phenylbutyrate (SPB) in treating diseases caused by genetic mutations. ⋯ 4-PB or SPB can be used to treat genetic diseases. However, they must be validated in high-quality randomized controlled trials before clinical use.
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Review Case Reports
Intradural extramedullary double primary ependymoma and meningioma rare condition: Case report and literature review.
Ependymomas are commonly prevalent intramedullary neoplasms in adults, with hardly any cases of exophytic extramedullary ependymoma being reported. Meningiomas, on the contrary, are one of the most common intradural extramedullary (IDEM) tumors. However, the occurrence of both IDEM tumors simultaneously is extremely rare. ⋯ This is the first reported case of IDEM double primary ependymoma and meningioma, highlighting the rarity of such cases and the importance of thorough diagnostic workup and surgical excision for IDEM tumors. Genetic analysis adds to the understanding of these rare tumors and guides management strategies.
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Pituitary stalk lesions are uncommon and are typically identified through pituitary magnetic resonance imaging and screening for causes of diabetes insipidus. Recent literature indicates that pituitary stalk lesions primarily manifest as pituitary stalk interruption syndrome and thickening of the pituitary stalk. ⋯ Therefore, achieving accurate diagnosis, differential diagnosis, and treatment for pituitary stalk lesions is crucial. This article aims to classify pituitary stalk lesions and delve into the latest research on their etiology, pathological mechanisms, clinical manifestations, diagnosis, and treatment of associated diseases.
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Hearing impairment is a prevalent clinical feature in Morquio syndrome (mucopolysaccharidosis IVA or MPS IVA) patients, often presenting in diverse forms: conductive, sensorineural, or a combination known as mixed hearing loss. The mixed form entails a blend of both conductive and sensorineural elements, typically exhibiting a progressive trajectory. This scoping review aimed to comprehensively analyze available evidence pertaining to the pathophysiology, classification, epidemiology, and clinical management of hearing loss in individuals with MPS IVA. ⋯ Five hundred sixty-eight patients with MPS IVA were identified, of whom 210 (37%) developed hearing loss, the most common of which was moderate. Despite the lack of information on the diagnosis and management of hearing loss in Morquio syndrome, this study found that approximately one-third of participants exhibited some form of auditory impairment, with the majority of these cases being sensorineural in nature.
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Randomized Controlled Trial Comparative Study
Comparative efficacy and safety of sitagliptin or gliclazide combined with metformin in treatment-naive patients with type 2 diabetes: A single-center, prospective, randomized, controlled, noninferiority study with genetic polymorphism analysis.
This study evaluates the efficacy and safety of sitagliptin versus gliclazide, combined with metformin, in treatment-naive patients with type 2 diabetes mellitus (T2DM) and glucotoxicity. ⋯ Sitagliptin combined with metformin is noninferior to gliclazide combined with metformin in treatment-naive patients with T2DM with glucotoxicity. Genetic polymorphisms significantly affect drug efficacy, highlighting the importance of personalized medicine. The sitagliptin group achieved glycemic targets more quickly and had greater weight reductions without increased adverse effects.