Medicine
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Review Case Reports
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Supernumerary teeth are those that teeth in excess number than the normal count. It is usually associated with genetic syndromes when present in more numbers. Several causal genes, such as APC, NHS, TRPS1, EVC and RUNX2, have been identified. However, etiology of supernumerary teeth remains largely unclear. ⋯ This is the first WES study to identify genetic cause in Chinese patients with a novel RUNX2 mutation. Our findings expanded the mutation spectrum and clinical features of the disease and facilitated clinic diagnosis and genetic counseling.
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The results of published studies which examined the association between variable number tandem repeat (VNTR) polymorphism of interleukin-1 receptor antagonist (IL-1RN) and ischemic stroke (IS) are conflicting. Thus, we performed a meta-analysis to examine the potential association between IL-1RN VNTR polymorphism and IS risk. ⋯ In conclusion, our results suggested that there was no sufficient evidence to support the association between IL-1RN 86-bp VNTR polymorphism and IS. Further large epidemiologic studies need to be done to confirm these findings.
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Review Case Reports
Unusual migration of a Kirschner wire in a patient with Osteogenesis Imperfecta: A case report.
Kirschner wires (K-wires) are the most commonly used implants in orthopedic surgery. Although complications are not uncommon, they are mostly benign in nature and easily managed. While migration of K-wires is a rare complication, fatal outcomes have been reported. A review of the literature showed that only 7 cases of wire migration in the hip and pelvic region have been reported. Only 2 occurred in the pediatric population. Although K-wires are routinely used in osteogenesis imperfecta (OI) patients, there has been no report of complications in this vulnerable patient population. ⋯ There has been no prior report of migrated K-wires in the OI population. This is also the first report of a K-wire migrating from the femoral neck to the contralateral retroperitoneal region. Proper intraoperative bending of K-wires, timely removal of temporary K-wires, and considering K-wire migration in patients with retained hardware complaining of respiratory or gastrointestinal symptoms will prevent potentially life-threatening complications.
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Review Case Reports
Renal immature teratoma in a male adult: A case report and literature review.
Teratomas commonly arise in the gonads, including ovary and testis. The kidney is one of the most rare regions of primary teratoma. To date, about 19 cases of renal teratoma have been reported, and only 3 articles have reported renal immature teratoma; however, all of them occur in infant or children. In the present study, we reported a renal inmature teratoma in a male adult. ⋯ Adult renal immature teratoma is rare, and the diagnosis is mainly based on the pathological findings.
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Review Case Reports
Cerebellar pilocytic astrocytomas with spontaneous intratumoral hemorrhage in the elderly: A case report and review of the literature.
Pilocytic astrocytoma (PA) is the most common pediatric central nervous system glial tumor. Adult occurrence is rare, especially in elderly adults. How to manage the pilocytic astrocytoma with spontaneous intratumoral hemorrhage in the elderly is still unfamiliar with clinician. ⋯ Cerebellar pilocytic astrocytomas associated with hemorrhages occur over the age of 60 is extremely rare. Removing the tumor and hematoma completely is the best treatment options. Long term follow-up is very necessary for this tumor.