Medicine
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Sarcoidosis is associated with cell-mediated immunodeficiency and treatment of symptomatic sarcoidosis usually includes systemic immunosuppressants. Data relative to incidence, prognosis factors, and outcome of infections are scarce. Retrospective cohort study of 585 patients with biopsy proven sarcoidosis in a tertiary referral specialist clinic, with a nested case-control analysis. ⋯ Two patients died within the 6 months following infection, due to progressive multifocal leucoencephalopathy (n = 1), and of peritonitis (n = 1). Severe infections are observed in 5.1% of our patients with sarcoidosis after a median follow-up of 8 years. Risk factors for severe infections included neurological or cardiac involvement of sarcoidosis, the use of immunosuppressive agents and mainly cyclophosphamide.
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Case Reports
Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.
Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynostosis. Karyotyping by both G-bind staining and array-based DNA hybridization identified microduplications on Chromosomes 8p11.22 q12.1 and 16q11.2 q21, but none of the known pathogenic mutations was detected. ⋯ This finding not only expands knowledge on the genetic mechanism of craniosynostosis but also provides a new target for the early diagnosis of this rare disease.
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Case Reports
Left extensive infection in the forearm caused by whitlow infected by mycobacterium tuberculosis: A case report.
Whitlow is a common disease in clinic, characterized by pain and swelling of finger. However, few articles had reported on extensive infection in the forearm caused by whitlow infected by mycobacterium tuberculosis (MTB). ⋯ Extensive infection in the forearm after recurrent whitlow infection by MTB is rare. So when we face recurrent whitlow, a rapid diagnosis and treatment are required to prevent complications. This case reminds us that recurrent whitlow is dangerous. Attention must be paid to recurrent whitlow. If necessary, amputation should be considered.
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Case Reports
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report.
Pulmonary blastoma is a rare primary lung cancer that can be categorized into adult type and child type. The clinical symptoms and imaging features of pulmonary blastoma are nonspecific, making it difficult to diagnose preoperatively. Postoperative pathology with immunohistochemical staining can help diagnosis. ⋯ Pleural pulmonary blastoma is a malignant tumor with rare pathological features that is easy to relapse and metastasis with poor prognosis. Surgical treatment preferably, lobectomy plus mediastinal lymph node dissection, is the first treatment option. The overall prognosis is poor.
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Case Reports
Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report.
Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population. Here, we describe a Han Chinese patient with FFI who exhibited agrypnia excitata and obstructive apnea. ⋯ The insomnia in FFI is complex, agrypnia excitata and obstructive apnea can also be indicators for FFI. Polysomnogram is necessary for recognizing the sleep loss when the symptom of insomia is not typical. Improving energy metabolism may be a potential treatment for it.