Medicine
-
Review Case Reports
CYP1A2 polymorphism may contribute to agomelatine-induced acute liver injury: Case report and review of the literature.
Liver function monitoring is recommended when agomelatine is prescribed, although liver enzymes are not considered predictive biomarkers. Most patients present with acute liver injury, with only a few presenting with levels of liver enzymes that are over 30 times the upper limit of normal. The patient-specific risk factors that are associated with liver injury remain unclear. Thus, this report provides new insights into the mechanism of agomelatine-induced acute hepatocellular injury based on cytochrome P450 family 1 subfamily A member 2 (CYP1A2) polymorphism. ⋯ Here, we report a case of acute hepatocellular injury characterized by a very high aspartate aminotransferase level. Periodic liver function testing throughout the treatment period can help in the rapid and appropriate diagnosis of acute liver injury, particularly in the absence of typical clinical manifestations. Agomelatine hepatic toxicity might be related to an idiosyncratic metabolic reaction that depends on individual patient differences. As it is the main metabolic enzyme of agomelatine, CYP1A2 genetic polymorphism may contribute to liver injury by affecting its metabolites.
-
β-thalassemia is a hereditary hematological disease caused by over 350 mutations in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) production combined with the α-globin genotype provides some prediction of disease severity for β-thalassemia. However, the generation of an additive composite genetic risk score predicts prognosis, and guide management requires a larger panel of genetic modifiers yet to be discovered. ⋯ Allogeneic hematopoietic stem cell transplantation was, until very recently, the curative option available for patients with transfusion-dependent β-thalassemia. Gene therapy currently represents a novel therapeutic promise after many years of extensive preclinical research to optimize gene transfer protocols. We summarize the current state of developments in the molecular genetics of β-thalassemia over the last decade, including the mechanisms associated with ineffective erythropoiesis, which have also provided valid therapeutic targets, some of which have been shown as a proof-of-concept.
-
Cleidocranial dysplasia (CCD) is mainly attributable to a variant of runt-related transcription factor 2 (RUNX2) on chromosome 6p21. CCD is an autosomal dominant skeletal disorder characterized by open/delayed closure of fontanels, clavicular hypoplasia, retention of deciduous teeth, and supernumerary permanent teeth. The aim of this study was to investigate potentially pathogenic mutations in 2 Chinese families. ⋯ Our findings demonstrated that the novel mutation c.2T>C causes CCD. Quantitative real-time PCR suggested that downregulated RUNX2 levels and haploinsufficiency in RUNX2 lead to CCD. These results extend the spectrum of RUNX2 mutations in CCD patients and can be used for genetic consultation and prenatal diagnosis.
-
Review Case Reports
Posterior fossa transient ischemic attack in the setting of bilateral persistent hypoglossal arteries: A case report and literature review.
Persistent hypoglossal artery (PHA) is the second rare abnormal anastomosis of the internal carotid and vertebrobasilar arteries, and bilateral persistent hypoglossal arteries in particular have rarely been reported. This is the first case of bilateral persistent hypoglossal arteries presenting with posterior fossa transient ischemic attack (TIA). ⋯ Although requires no special treatment, PHA could be accompanied by hypoplasia of vertebral arteries and posterior communicating arteries and becomes the main blood supply pathway for the posterior circulation. Accurate identification and evaluation of PHA is important of ensuring the safety of carotid interventions and identifying specific types of stroke.
-
To investigate the clinical effects of a new intertrochanteric valgus osteotomy technique designed by the authors for treatment of post-traumatic coxa varus after proximal femur fractures. Retrospectively analyzed 11 patients who developed coxa vara after sustaining proximal femoral fractures were treated with intertrochanteric valgus osteotomy from December 2005 to December 2018 in our hospital. This study included 6 cases of intertrochanteric fracture deformity union, 3 cases of subtrochanteric fracture nonunion and 2 cases of femoral neck fracture nonunion. ⋯ Union of the 2 old femoral neck fractures was achieved 4 and 6 months after surgery, respectively, and no femoral head necrosis occurred during follow-up. The Harris hip score increased an average of 49 points (44.1-93.1 points) at 1 year postoperatively. Our self-designed intertrochanteric valgus osteotomy technique showed a favorable clinical effect to treatment coxa vara and can be used in the clinical setting.