Medicine
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Brain magnetic resonance imaging (MRI) images of atypical teratoid rhabdoid tumor (ATRT) often present heterogeneous signals of various cells without remarkable features of the disease. We describe a unique case of atypical brain MRI images presenting as an type II neurofibromatosis and explore some diagnostic hints. ⋯ The diagnosis of ATRT can be challenging, in our case due to the disturbance of bilateral auditory nerve distribution area tumors. Under MRI, Irregular frontier, obvious mutual high and low signal on T2-weighted image, growing along cerebrospinal fluid pathway, and heterogeneous contrast enhancement should lead the clinician to strongly consider ATRT.
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Trio family-based whole exome sequencing (WES) is a powerful tool in the diagnosis of rare neurodevelopmental diseases, even in patients with the unclear diagnosis. There have been previous reports of variants in the phosphatidylinositol glycan anchor biosynthesis class T (PIGT) gene associated with multiple congenital anomalies, with a total of 14 affected individuals across 8 families. ⋯ Most of the clinical features of the patient are in agreement with the previously described PIGT cases corroborating the usefulness of WES as a diagnostic tool.
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Fulminant type 1 diabetes mellitus (FT1DM) is a new subtype of type 1 diabetes mellitus that was first proposed by the Japanese scholar Imagawa in 2000. In the 2 patient cases described in this study, gastrointestinal symptoms were the first symptoms reported, and the initial blood glucose levels were very high. However, the glycosylated hemoglobin (HbA1c) levels were not very high, the islet β-cell function was almost completely lost in a short time, and the metabolic disorder was severe; the patients' islet β cells demonstrated complete and irreversible functional damage, and the prognosis was poor. ⋯ FT1DM is a new subtype of type 1 diabetes mellitus. The onset of this disease is rapid, and the function of islet β cells is almost completely lost in a short time period. This metabolic disorder is severe, and the clinical manifestations are nonspecific. Unless a timely and accurate diagnosis is made, and patients receive prompt treatment, it is difficult to control the disease and the risk of death is high.
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Systematic review with network meta-analysis. ⋯ Results of a network meta-analysis show LD is more effective than CC in alleviating symptoms of lumbar disc herniation refractory to initial conservative management. Further, LD + AC lowers risk of reherniation and reoperation versus LD and may improve patient symptoms more than CC.
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Cystic parathyroid adenomas are rare and seldom arise in ectopically located glands which may be found within the carotid sheath, mediastinum, thymus, or thyroid grand. They cannot be detected consistently by any imaging methods. Unusual symptoms may bring about certain pitfalls and difficulties for the diagnosis of primary hyperparathyroidism (PHPT) caused by cystic parathyroid adenomas. Until now, there are no specific guidelines on the management of cystic ectopic intrathyroidal parathyroid adenoma (ETPA). ⋯ The diagnosis of cystic ETPA is easily overlooked for its rarity. Diagnostic pitfalls, including atypical symptoms, inconclusive imaging manifestation, and unidentified gross specimen, are highlighted. They make the diagnosis of PHPT caused by cystic ETPA challenging. Patients would rather choose surgical excision directly than invasive FNA. Acute hemorrhage of the preexisting ETPA may account for the cystic degeneration.