Why screen for cystic fibrosis? A clinician's view

Cystic fibrosis (CF) is relatively common, serious, and causes progressive lung damage. Clinical diagnosis may be delayed until lung damage has occurred, and infection may start as early as six weeks of life. A well organised screening programme should identify the great majority of affected infants within the first three weeks after birth, which leaves a small time window during which effective preventive treatment and surveillance may be instituted. Active treatment, whether for screened or unscreened infants, improves clinical status and long-term survival of CF patients. It is anticipated that new treatments will become available within the next few years, and these will clearly give maximal benefit to young infants if instituted before lung damage is evident. In addition to any hypothetical effects on morbidity and survival, pre-symptomatic diagnosis greatly improves the doctor-parent relationship. Economic arguments may be distorted, but, at best, screening is cost-beneficial, and, at worst, it is cost-neutral. The overwhelming majority of CF professionals and parents universally support neonatal screening, so the onus is therefore on those who oppose screening to prove that their approach offers a superior strategy.     

DEEP VEIN THROMBOSIS AS A PRESENTING SYMPTOM OF CONGENITAL INTERRUPTION OF THE INFERIOR VENA CAVA

Intrahepatic interruption of the inferior vena cava is a congenital anomaly, resulting in venous drainage of the lower extremities by way of a compensatory enlarged vena azygos system. We report the case of a 37-year-old male who presented with symptoms of deep vein thrombosis of the entire right lower extremity. A right-sided mediastinal mass on the chest X-ray was mistaken for a haematological malignancy but proved later to represent an enlarged azygos vein. The case illustrates that in a case of deep vein thrombosis, especially in younger patients, interruption of the inferior vena cava should be considered. A right-sided paratracheal mass on the chest X-ray may give a clue in making the correct diagnosis.     

Percutaneous renal biopsy complicated by renal capsular artery pseudoaneurysm

We report a case of renal capsular artery pseudoaneurysm caused by percutaneous renal biopsy. The injury was diagnosed and treated with arteriography and transarterial embolization. Because the arterial injury was extraparenchymal, the clinical manifestations of blood loss were flank pain and decreasing hematocrit without hematuria. Injury to renal capsular arteries during percutaneous renal biopsy is a rare possibility because of their small size.     

108例创伤性动静脉瘘的介入诊疗分析

目的分析创伤性动静脉瘘（AVF）的临床特点、造影表现、造影技术及治疗方式的选择。方法回顾性分析纽约Kings County医疗中心25年间全部确诊的108例创伤性AVF的介入相关诊疗资料。分析内容包括患者外伤种类、临床表现、损伤部位、血管造影异常特征、AVF血流动力学特征（分5个类型）、治疗方式的选择等。结果 108例患者中共发现117处AVF,大多数患者临床特征不明确。创伤种类包括枪伤（导致72处AVF）、刺伤（24处）、钝性伤（8处）、高处坠落伤（3处）、医源性损伤（2处）。损伤部位常见于肢体（46例）、颈部（19例）、肝脏（13例）和锁骨下血管（11例）。所有病变均可见静脉早显,显示动脉横断52处,撕裂37处,49.6%的AVF与假性动脉瘤有关。最常见的血流特点是Ⅰ型,即瘘口所在的动脉近段和远段、静脉的近段和远段都显示,伴远侧段静脉瓣功能不全,共40处瘘（34.2%）,其次是Ⅲ型22个（18.8%）,Ⅴ型最不常见（4.3%）。34例接受手术治疗,61例栓塞治疗,7例临床观察。分别采用弹簧圈（47例）、明胶海绵（9例）、无水乙醇（3例）、可脱球囊（2例）,其中弹簧圈效果理想、并发症少。6例采用覆膜支架效果好。结论血管造影是诊断创伤性AVF的金标准,造影时准确观察动脉损伤的性质,瘘口的解剖和血流特点及所有进入瘘口的动脉分支,对于选择治疗方式及保证介入治疗的成功完成至关重要。     

脊髓损伤后一氧化氮含量及一氧化氮合酶活性的变化与脊髓水肿的关系

目的 :为了探讨脊髓损伤后一氧化氮 (NO)含量及其合酶 (NOS)活性与脊髓水肿的关系。方法 :测定不同程度脊髓损伤后NO含量及NOS活性的变化 ,同时测定脊髓组织含水量。结果 :随着损伤程度的增加 ,NO含量及NOS活性均增加 ,脊髓组织水肿增加。结论 :脊髓损伤后NO含量及NOS活性增加 ,与脊髓组织的水肿密切相关 ,提示NO参与了脊髓伤后的病理生理改变。     

5分钟短时心率变异性自回归模型频域分析的临床应用价值

目的:基于自回归模型5min心率变异性频域分析的临床价值,检验糖尿病患者5min短时心率变异性自回归模型分析频域指标的变化。方法:实验对象为50岁以上糖尿病患者9例和正常人7例,糖尿病史>6年7例,糖尿病史<3年2例。被试者采用坐姿,静息状态,测试30min的ECG信号,采样率为1000Hz。对每个样本取第10～15分钟的时长5min的RR间期作为心率变异性信号,进行基于自回归模型的频域分析。依据功率谱估计计算16例受试者的总能量,低频段能量,高频段能量,低频段高频段能量比值等指标参数。结果:通过对5min心率变异性自回归模型计算结果得出,糖尿病史>6年患者总能量、低频段能量、高频段能量低于正常人,差异有显著性意义(t=2.4952,2.7027,1.7299,P<0.05)。糖尿病史<3年患者总能量、低频段能量、高频段能量与正常人差异不明显。两类糖尿病患者与正常人低频段高频段能量比值无明显差异。结论:5min短时心率变异性自回归模型分析能够有效反映糖尿病患者自主神经的病变,可能成为检测自主神经病变的方法。     

Diagnosis,treatment and complications of radial head and neck fractures in the pediatric patient

Radial head and neck fractures represent up to 14% of all pediatric elbow fractures and can be a difficult challenge in the pediatric patient. In up to 39% of proximal radius fractures, there is a concomitant fracture, which can easily be overlooked on the initial standard radiographs. The treatment options for proximal radius fractures in children range from non-surgical treatment, such as immobilization alone and closed reduction followed by immobilization, to more invasive options, including closed reduction with percutaneous pinning and open reduction with internal fixation. The choice of treatment depends on the degree of angulation and displacement of the fracture and the age of the patient; an angulation of less than 30 degrees and translation of less than 50% is generally accepted, whereas a higher degree of displacement is considered an indication for surgical intervention. Fractures with limited displacement and non-surgical treatment generally result in superior outcomes in terms of patient-reported outcome measures, range of motion and complications compared to severely displaced fractures requiring surgical intervention. With proper management, good to excellent results are achieved in most cases, and long-term sequelae are rare. However, severe complications do occur, including radio-ulnar synostosis, osteonecrosis, rotational impairment, and premature physeal closure with a malformation of the radial head as a result, especially after more invasive procedures. Adequate follow-up is therefore warranted.     

Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds

The relationship of clinical bleeding tendency and factor XI antigen (XI:Ag) in factor XI deficiency was studied in 78 members of 25 factor XI-deficient kindreds. Factor XI:Ag was measured in a competitive radioimmunoassay, using monospecific, heterologous anti-factor XI antibody. 125I-labeled factor XI, and staphylococcal protein A as the precipitating agent. Deficiency of factor XI clotting activity (XI:C), less than 0.62 U/mL, occurred in 48 individuals, 22 of whom experienced postoperative or posttraumatic bleeding: Their mean factor XI:C was 0.21 +/- 0.04 U/mL (SEM), and factor XI:Ag was 0.23 +/- 0.04 U/mL. The remaining 26 had no clinical bleeding, many despite surgical challenge: Their mean factor XI:C was 0.30 +/- 0.04 U/mL, and factor XI:Ag was 0.34 +/- 0.05 U/mL. In all, 13 kindreds had between 1 and 11 members with bleeding; the other 12 had none with deficient hemostasis. Two heterozygous factor XI-deficient individuals appeared to be positive for cross-reacting material (CRM+). The slope of the regression line for factor XI:C and factor XI:Ag data points in the 78 individuals tested did not differ from control, and all points fell within 95% confidence limits derived from control. In conclusion, bleeding tendency appears to be consistent within a given kindred and is not determined exclusively by factor XI:C or factor XI:Ag levels.