Medicine
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Adenomatous polyposis (AP) is a genetic disorder characterized by the occurrence of numerous adenomatous polyps in the colon and rectum and can be classified into classical AP and attenuated AP (AAP). AAP is diagnosed when the number of observed adenomas is between 10 and 99. The detection of AAP is significantly increasing mainly due to the improvement of the imaging technique and application of the screening program for colorectal cancer detection. Currently, the germline variations of the APC and MUTYH genes are reported as the main cause of classical AP. However, the underlying genetic basis of AAP is not well understood. In this study, we report 2 cases of AAP with MSH6 variations. ⋯ Minor portion of AAP can cause by genetic mutation in MSH6, and further research is needed.
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Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare disease characterized by the inflammation and destruction of small blood vessels and circulating ANCAs. Drugs such as antithyroid drugs (ATDs), especially propylthiouracil (PTU), have been used for the production of ANCAs and cause the development of drug-induced AAV. The pathogenesis of this disease is unclear but could be related to the physiological processes affecting the degradation of neutrophil extracellular traps (NETs). At present, PTU is widely used in patients with Graves' disease (GD) who are preparing for pregnancy and whose condition has not been controlled. Once drug-induced AAV has occurred with important organ damage, considering NETs have a significant role in the immune system, whether the cessation of drugs could stop the progression of organ damage is unclear, and a consensus regarding standard treatment has not been established. ⋯ The authors believe that this type of patient needs to fully consider their pregnancy preparation needs, suspend pregnancy when a small chance of GD remission is indicated, and avoid the use of drugs with reproductive toxicity and other serious adverse events. The multidisciplinary combination therapy of low-dose glucocorticoids and immunosuppressants combined with iodine radiotherapy is one reasonable scheme. At the same time, it is necessary to eliminate the organ damage caused by other reasons. This report provides a clinical treatment basis for patients with drug-induced vasculitis manifestations who cannot receive an accurate diagnosis.
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Epidermolysis Bullosa Pruriginosa (EBP) is a persistent, recurring disease that seriously affects quality of life. Fewer than 100 cases of EBP have been reported to date. Numerous inflammatory dermatoses are driven by soluble inflammatory mediators, which rely on Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling, and inhibition of this pathway using Janus kinase (JAK) inhibitors might be a useful therapeutic strategy for these diseases. ⋯ This study confirms that baricitinib is effective and feasible in treating EBP, especially in remarkable relieving itching, which rendered new ideas for therapeutic approaches for EBP in the future.
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Descending necrotizing mediastinitis (DNM) is a rare but serious complication of oral and cervical infections that is associated with high mortality because diagnosis can be difficult or delayed. Early diagnosis and accurate identification of the causative pathogen can significantly reduce mortality, and are critical for the management of these patients. ⋯ Next-generation sequencing is a rapid and accurate method for identification of pathogens that can provide a basis for early treatment of DNM, thereby improving patient prognosis and reducing mortality.
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The skin prick test (SPT) is a standard procedure in allergy/immunology clinics, crucial for evaluating conditions like allergic rhinitis and food allergies. As a cornerstone in investigating immunoglobulin E-mediated allergy, it plays a vital role in diagnosing allergies, including those triggered by common dust mites like Dermatophagoides pteronyssinus, Dermatophagoides farinae, Euroglyphus maynei, and Blomia tropicalis. Despite its widespread use, adverse reactions to SPT are uncommon (15 per 100,000 patients), though the procedure is not entirely risk-free. This article presents a clinical case involving a 17-year-old female who experienced a moderately delayed allergic reaction 120 minutes post-SPT, managed effectively with subsequent symptom resolution. ⋯ This article delves into a systemic allergic reaction post-SPT, emphasizing the 2 main stages of type I hypersensitivity reactions. While the acute phase involves mast cell-driven mediators within 15 minutes, the delayed phase (4-8 hours) includes de novo cytokine release. Vigilance regarding symptom onset and differentiation between mild and severe reactions is crucial. Notably, the absence of specific waiting time guidelines post-SPT underscores the need for reporting to enhance understanding and subsequent management. Performing these procedures in specialized centers with qualified professionals is essential for effectively managing potential anaphylactic reactions. Addressing these knowledge gaps will contribute to enhanced patient safety during diagnostic procedures.