Two‐ and three‐dimensional prenatal sonographic diagnosis of prune‐belly syndrome

We report the prenatal diagnosis of 6 cases of Prune‐belly syndrome in the 2^nd trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2‐dimensional sonographic examination. We discuss the role of Doppler imaging and 3‐dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2010     

Brown–sequard syndrome due to isolated blunt trauma

Blunt trauma without associated fracture or ligamentous injury is a rare cause of Brown–Sequard syndrome. We report a case of Brown–Sequard syndrome after a direct blow to the cervical spine that did not cause injury to adjacent bone or ligaments. Characteristic neurologic findings, including a unilateral hemiparesis with associated contralateral sensory findings, were noted at the time of presentation. High-dose steroids were instituted after recognition of the patient’s injury, and magnetic resonance imaging of the cervical spine revealed a unilateral cord contusion with no associated fractures. After 1 month, the patient had recovered much of his function and was able to ambulate unassisted.     

Fetal hydrometrocolpos with pre‐axial mirror polydactyly as a new variant of McKusick‐Kaufman syndrome

This report describes a variant of McKusick‐Kaufman syndrome presenting with a large fetal abdominal cyst of hydrometrocolpos at 37 weeks of gestation. The diagnosis was based on the ultrasound findings of a large homogeneous hypoechoic cyst (diameter of >10 cm) with incomplete septum, thickened wall, superiorly connecting to the dilated uterus, consistent with hydrometrocolpos. Additionally, pre‐axial mirror polydactyly of the left foot was suspected. Postnatal examination/work‐up confirmed the prenatal findings. This is the first report of prenatal diagnosis of hydrometrocolpos with complex polydactyly of mirror image pre‐axial duplications containing nine toes instead of six‐toe postaxial polydactyly.     

Post‐thrombotic syndrome: a clinical review

Up to half of patients with proximal deep vein thrombosis (DVT) will develop post‐thrombotic syndrome (PTS) despite optimal anticoagulant therapy. PTS significantly impacts upon quality of life and has major health‐economic implications. This narrative review describes the pathophysiology, risk factors, and diagnosis, prevention and treatment of PTS, to improve our understanding of the disease and guide treatment. Relevant articles were identified through systematic searches of the PubMed, EMBASE and Cochrane databases between 1966 and November 2011. Studies were included for detailed assessment if they met the following criteria: published in English, human study participants, study population aged > 18 years, and lower limb post‐thrombotic syndrome. All non‐systematic reviews and single patient case reports were excluded. Recurrent thrombosis, thrombus location and obesity are major risk factors, whereas the importance of gender and age remain uncertain. The diagnosis of PTS is based on clinical findings in patients with a known history of DVT. Several clinical scales have been described, with the Villalta Score gaining increasing popularity. Adequate anticoagulation and use of elastic compression stockings (ECS) following DVT can reduce the incidence of PTS. Catheter‐directed thrombolysis and mechanical thrombectomy of acute DVT may preserve valvular function. Studies to date of these techniques are encouraging, and have reported improved hemodynamics and a reduced incidence of PTS. The management of established PTS is challenging. Compression therapy, aimed at reducing the underling venous hypertension, remains the mainstay of treatment. This is despite a paucity of high‐quality evidence to support its use. Pharmacologic and surgical treatments have also been described, with a number of studies citing symptomatic improvement.     

Compartment syndrome as a complication of a stab wound to the thigh: a case report and review of the literature

Acute compartment syndrome of the thigh is a rare but potentially devastating condition, in which the pressure within the osseofascial compartment rises above the capillary perfusion gradient, leading to cellular anoxia, muscle ischaemia and death. Early diagnosis and treatment is essential to prevent long term disability. It is most often associated with crush injuries and femoral fracture. We present a previously unreported case of thigh compartment syndrome following a stab injury, treated by emergent fasciotomy.     

Successful treatment of rituximab‐ and steroid‐resistant nephrotic syndrome with leukocytapheresis

Although rituximab (RTX) is a promising therapeutic agent for treating steroid‐resistant nephrotic syndrome (SRNS) resistant to various immunosuppressive agents, some patients have shown resistance to RTX. We report the case of a patient with RTX‐resistant nephrotic syndrome and SRNS who was successfully treated with leukocytapheresis (LCAP). After LCAP, there was a significant reduction in proteinuria and in the total number of lymphocytes, T cells, and HLA‐DR^+‐activated T cells. Moreover, the patient became sensitive to steroids and RTX. LCAP reduced circulating immune cells including activated T cells and could be effective in treating rituximab‐resistant nephrotic syndrome and SRNS and in achieving remission of proteinuria.     

McKusick‐Kaufman syndrome: The difficulty of establishing a prenatal diagnosis of an uncommon disorder

Prenatal evaluation of abdominal cystic masses can be complex and challenging. We report the case of a fetus with a large cystic abdominal mass and discuss how the differential diagnosis was narrowed to include McKusick‐Kaufman syndrome (MKS). MKS is characterized by the triad of postaxial polydactyly, congenital heart disease, hydrometrocolpos, and genital malformations in males. Rare conditions such as MKS are difficult to diagnose prenatally and require postnatal phenotyping and molecular studies before a definitive diagnosis can be established. © 2010 Wiley Periodicals, Inc. J Clin Ultrasound 2010     

Markers of coagulation,fibrinolysis and inflammation in relation to post‐thrombotic syndrome

Summary. Background: Post‐thrombotic syndrome (PTS) occurs in 20–50% of patients after a deep venous thrombosis (DVT). It is difficult to accurately predict which patients will develop PTS. Biomarkers could be a valuable tool for PTS risk assessment. Objectives: To investigate whether increased levels of factor (F)VIII, C‐reactive protein (CRP) or D‐dimer, over time, are associated with the development of PTS in patients after an acute DVT. Methods: PTS status was assessed using the Villalta scale. Blood sampling was performed at three points during follow‐up. Results: A cohort of 228 consecutive patients was included after an acute DVT. At T1 (12 months after index DVT), both levels of D‐dimer (median 725 ng mL^?1 [interquartile range, IQR 400–1400[ vs. 378 ng mL^?1 [251–652] P = 0.004) and CRP (median 3.9 mg L^?1 [IQR 1.6–8.5] vs. 2.4 mg L^?1 [1.0–4.3] P = 0.018) were increased in patients with PTS, compared with patients without PTS. Factor (F)VIII was not associated with PTS. In the multivariate logistic regression analysis, varicosities (odds ratio [OR] 13.4 95% confidence interval [CI] 3.0–59.1 P = 0.001), a previous ipsilateral DVT (OR 6.3 95% CI 1.5–26.9 P = 0.012) and CRP > 5 mg L^?1 on T1 (OR 8.0 95% CI 2.4–26.4 P = 0.001) were significantly associated with PTS. Conclusions: Besides previous ipsilateral DVT and varicosities, CRP > 5 mg L^?1 at T1 was strongly and independently associated with PTS. Persistent inflammation rather than hypercoagulability might be the most important etiological factor in PTS, and may be a target for future therapy. The development of a risk score for PTS, including both clinical risk factors and biomarker levels, such as CRP, might be desirable.     

Prevalence and predictors for post‐thrombotic syndrome 3 to 16 years after pregnancy‐related venous thrombosis: a population‐based,cross‐sectional,case‐control study

Background:  The long‐term outcome of pregnancy‐related venous thrombosis (VT) is not known. Objectives:  To assess predictors and long‐term frequency of post‐thrombotic syndrome (PTS) after pregnancy‐related VT. Patients/Methods:  In 2006, 313 women with pregnancy‐related VT during 1990–2003 and 353 controls answered a comprehensive questionnaire that included self‐reported Villalta score as a measure of PTS. Cases were identified from 18 Norwegian hospitals using the Norwegian Patient Registry and the Medical Birth Registry of Norway. The latter was used to select as possible controls women who gave birth at the same time as a case. Thirty‐nine patients and four controls were excluded because of VT outside the lower limbs/lungs or missing Villalta scores. Two hundred and four patients had DVT in the lower limb and 70 had pulmonary embolism (PE). The control group comprised 349 women naive for VT at the time of the index pregnancy. Results:  Forty‐two per cent of cases with DVT in the lower limb, compared with 24% of cases with PE and 10% of controls, reported a Villalta score of ≥ 5. Severe PTS (Villalta score of ≥ 15) was reported among 7%, 4% and 1%. Proximal postnatal, but not antenatal, thrombosis was a strong predictor of PTS with an adjusted odds ratio of 6.3 (95% confidence interval, 2.0–19.8; P = 0.002). Daily smoking before the index pregnancy and age above 33 years at event were independent predictors for post‐thrombotic syndrome. Conclusions:  PTS is a common long‐term complication after pregnancy‐related DVT. Proximal postnatal thrombosis, smoking and higher age were independent predictors of the development of PTS.     

Effects of a community‐based intervention on cardio‐metabolic risk and self‐care behaviour in older adults with metabolic syndrome

This pilot study was performed to investigate the effects of a community‐based intervention (CBI) on cardio‐metabolic risk and self‐care behaviour in 92 older adults with metabolic syndrome at public health centres in Suwon, Korea. A prospective, pretest and posttest, controlled, quasi‐experimental design was used. The older adults in the intervention group participated in an 8‐week intensive lifestyle counselling, whereas those in the control group received usual care. The mean (standard deviation) age of the participants was 71.4 (4.43) years ranging from 60 to 84, and 75.0% of the participants were female. The intervention group at 8 weeks showed significant reduction in waist circumference by ?1.35 cm (P < 0.001) and improved self‐care behaviour (+ 5.17 score, P < 0.05) and self‐efficacy (+ 4.84 score, P < 0.001) when compared with the control group. The percentages of those who successfully completed the targeted behavioural modification were 71.7% for exercise and 52.2% for dietary control in the intervention group at 8 weeks. This pilot study provided evidence of the beneficial impact of the CBI for Korean older adults with metabolic syndrome.     

Successful ablation of a right atrium−axillary ventricular accessory pathway associated with Wolff‐Parkinson‐White syndrome

We report a case of a patient with right axillary ventricular. Similar congenital anomaly of the right atrium was reported as “right appendage diverticulum or right atrial diverticulum.” However, this independent chamber has its own annulus, synchronizes with the right ventricular, and generates large ventricular potential. Under the guidance of the CARTO mapping system (Biosense Webster, Diamond Bar, CA, USA), a right atrioventricular accessory pathway associated with type B Wolff‐Parkinson‐White syndrome was ablated successfully. This pathway was close to the annulus of the axillary ventricular. The patient remained free of arrhythmia at 1‐year follow‐up.     

Improvement of refractory pruritus after lipoprotein‐apheresis in arthrogryposis‐renal failure‐cholestasis syndrome

Accumulation of bile acids can lead to invalidating pruritus in cholestatic patients. Few reports exist on the influence of lipoprotein‐apheresis (LA) on plasma level of total bile acids (tBA). We report of significant decrease in tBA levels and drastic improvement of pruritus in a 5‐year‐old girl with arthrogryposis‐renal failure‐cholestasis syndrome. We present LA as a suitable rescue treatment option in therapy‐refractory cholestasis‐associated pruritus, at least as bridge until a long‐term solution such as entero‐biliary anastomosis or transplantation is possible.     

Wilkie's syndrome in monozygotic twins treated by 3‐D laparoscopic duodenojejunostomy

Superior mesenteric artery syndrome, also known as Wilkie's syndrome, is a rare cause of proximal duodenum obstruction in children. Here, we describe the first pediatric case of superior mesenteric artery syndrome in monozygotic twin brothers. Both patients underwent 3‐D laparoscopic duodenojejunostomy at the same age with an uneventful recovery.