Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships

BackgroundGastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors.ObjectivesEvaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations.MethodsCohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department.ResultsEight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives).ConclusionsAlthough currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients.     

MSCT在对比剂外渗的急性腹部创伤性动脉损伤诊断中的应用价值

目的探讨MSCT在对比剂外渗的急性腹部创伤性动脉损伤诊断中的应用价值。方法回顾性分析本院2016年1月～2018年12月收治的44例急性创伤性腹部动脉损伤患者及58例腹部非创伤性动脉病变患者影像资料,分析急性腹部创伤性和非创伤性动脉病变所致对比剂外渗的相关性。结果 44例创伤性腹部损伤患者通过MSCT及图像后处理技术共检出59支动脉损伤,其中对比剂外渗34支、非对比剂外渗共25支;58例急性腹部非创伤组共检出58支动脉病变,其中8支存在对比剂外渗。对比剂外渗征象创伤组出现率明显高于非创伤性组(χ~2=24.42,P0.05)。结论与非创伤组相比,急性腹部创伤性动脉损伤对比剂外渗征象较为常见,MSCT可以较好地显示创伤性对比剂外渗的直接及间接征象。     

临床护理路径（CNP）在腹部CT增强扫描检查中的应用研究

目的 探究临床护理路径在行腹部CT增强扫描检查患者中的应用效果。方法 收集本院2017年7月～2018年6月收治的120例行腹部CT增强扫描检查患者的临床资料,依据不同的干预方法归纳为对照组和实验组,各60例。前者采取常规护理方法,后者采取临床护理路径。对照并分析两组患者的检查配合度、不良反应发生率、护理满意度及护理差错数。结果 实验组患者的检查配合度为93.3%,明显优于对照组的73.3%(P0.05);实验组患者的不良反应发生率为5.0%,明显低于对照组的18.3%(P0.05);实验组患者的满意度评分为(4.37±0.40)分,明显优于对照组患者的(3.26±0.73)分(P0.05);实验组护理差错共1次,明显少于对照组的8次(P0.05)。结论 临床护理路径在腹部CT增强扫描检查中应用效果较好,能够明显提升患者的依从性,进而更好地配合检查,提高患者的满意度,具有较高的临床实用性。     

Reconstructing abdominal wall defects with a free composite tissue flap: A case report

BACKGROUNDReconstructive repair of huge full-thickness abdominal wall defects following debridement for abdominal electric burns remains a clinically challenging task. An ideal abdominal wall repair means a re-closure of the defected abdominal wall with pedicled neurovascular myofascial flaps, restoration of the abdominal wall integrity, and maintenance of the abdominal wall muscle tension to prevent the occurrence of abdominal wall hernia. When treating huge full-thickness defects, composite autologous tissue flaps are a good option for the repair. CASE SUMMARYThis study reported the case of a 43-year-old male patient suffering from full-thickness abdominal wall defects complicated with necrosis of multiple bowel segments and duodenal leak following high-voltage burns involving the left upper limb and abdomen. After debridement for abdominal electric burns and end-to-end anastomosis for the necrotic bowels, reconstruction with acellular dermal matrix grafting and vacuum sealing drainage were performed for temporary abdominal closure. The remaining 18 cm × 15 cm full-thickness abdominal wall defect was repaired using a combined anterolateral thigh and tensor fascia lata free flap. The proposed method achieved the functional reconstruction of the abdominal wall.CONCLUSIONThis approach restored the abdominal wall integrity, maintained certain muscle tension, avoided abdominal hernia, reached satisfactory aesthetic effect, and resulted in no complications in the grafting regions.     

Pseudoquistes abdominales,una complicación rara de los sistemas de derivación ventrículo-peritoneal: revisión sistemática de la literatura

Since the first report in 1954, abdominal pseudocysts have been recognized as a particularly uncommon complication of ventriculoperitoneal shunts of CSF, so their etiology, diagnosis, and therapeutic management remain very controversial.Our objective is to offer a critical and updated systematic review of those controversial points, using a thorough search and review of the most relevant literature available.The clinical presentation of pseudocysts is normally through non-specific abdominal symptoms. The most validated etiology consists on the existence of a concomitant infection of the CSF shunt system, and so, treatment needs of antibiotherapy and total or partial substitution of the system. However, the pseudocyst itself doesn’t need an active treatment, except for some specific cases. This management, algorithmically presented in the present work, achieves a lower recurrence rate than other options, but this one is still important, and is also associated with other complications of those shunts related with several other factors which need to be taken in account.     

Assessment of proadrenomedullin as diagnostic or prognostic biomarker of acute appendicitis in children with acute abdominal pain

BackgroundAcute appendicitis (AA) is one of the most frequent surgical pathologies in pediatrics.ObjectivesTo investigate the utility of proadrenomedullin (pro-ADM) for the diagnosis of AA.MethodsProspective, analytical, observational, and multicenter study conducted in 6 pediatric emergency departments. Children up to 18 years of age with suspected AA were included. Clinical, epidemiological, and analytical data were collected.ResultsWe studied 285 children with an average age of 9.5 years (95% confidence interval [CI], 9.1–9.9). AA was diagnosed in 103 children (36.1%), with complications in 10 of them (9.7%). The mean concentration of pro-ADM (nmol/L) was higher in children with AA (0.51 nmol/L, SD 0.16) than in children with acute abdominal pain (AAP) of another etiology (0.44 nmol/L, SD 0.14; p < 0.001). This difference was greater in complicated cases compared with uncomplicated AA (0.64 nmol/L, SD 0.17 and 0.50 nmol/L, SD 0.15, respectively; p = 0.005). The areas under the receiver-operating characteristic curves were 0.66 (95% CI, 0.59–0.72) for pro-ADM, 0.70 (95% CI, 0.63–0.76) for C-reactive protein (CRP), 0.84 (95% CI, 0.79–0.89) for neutrophils, and 0.84 (95% CI, 0.79–0.89) for total leukocytes. The most reliable combination to rule out AA was CRP ≤1.25 mg/dL and pro-ADM ≤0.35 nmol/L with a sensitivity of 96% and a negative predictive value of 93%.ConclusionChildren with AA presented higher pro-ADM values than children with AAP of other etiologies, especially in cases of complicated AA. The combination of low values of pro-ADM and CRP can help to select children with low risk of AA.