Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series

Phospholamban p.Arg14del is reported to cause hereditary cardiomyopathy with malignant ventricular tachycardia (VT) and advanced heart failure. However, the clinical courses of Japanese cardiomyopathy patients with phospholamban p.Arg14del remain uncharacterized. We identified five patients with this variant. All patients were diagnosed with dilated cardiomyopathy (DCM), developed end-stage heart failure and experienced VT requiring implantable cardioverter defibrillator discharge. Four patients survived after implantation of a left ventricular assist device (LVAD), while one patient who refused LVAD implantation died of heart failure. Based on the severe course of the disease, we propose genetic screening for phospholamban p.Arg14del in DCM patients.     

Astrocytic swelling in the ipsilateral substantia nigra after occlusion of the middle cerebral artery in rats

BACKGROUND AND PURPOSE: Focal cerebral ischemia results in neuronal changes in remote areas that have fiber connections with the ischemic area. We reported previously that a high-signal-intensity lesion was observed in the substantia nigra after striatal infarction on T2-weighted MR images in both clinical and experimental cases. However, the origin of these changes in signal intensity remains unclear. The aim of this study was to investigate the nigral changes by examining the correlation between the apparent diffusion coefficient (ADC) and the tissue structure. METHODS: Sprague-Dawley rats were subjected to middle cerebral artery occlusion. Four days after the occlusion, when T2-weighted images revealed the presence of an area of high signal intensity in the ipsilateral substantia nigra, diffusion-weighted imaging was performed using a 4.7-T superconductive MR unit, and the ADCs were calculated and imaged. Histopathologic examination by both light and electron microscopy was performed on day 4 after surgery. RESULTS: Diffusion-weighted images showed an area of high signal intensity in the ipsilateral substantia nigra, and the ADC map revealed uniform reduction of the ADC in this area. Swelling of astrocytic end-feet was observed, especially in the pars reticulata. CONCLUSION: These findings suggest that MR changes in the ipsilateral substantia nigra after striatal injury consist mainly of swelling in the astrocytic end-feet.     

Measurement of subclavicular pressure on the subclavian artery and brachial plexus in the costoclavicular space during provocative positioning for thoracic outlet syndrome

Background  

Thoracic outlet syndrome is thought to be caused by compression of the brachial plexus or subclavian artery in the interscalene, costoclavicular, or subcoracoid space. Some provocative tests are widely used for diagnosing thoracic outlet syndrome. However, whether provocative positions actually compress the neurovascular bundle in these spaces remains unclear. The purpose of this study was to investigate the possibility of neurovascular bundle compression in the costoclavicular space by measuring the pressure applied to the brachial plexus and subclavian artery in provocative positions.     

Angiotensin converting enzyme gene polymorphism in primary vesicoureteral reflux

We studied the insertion/deletion (I/D) polymorphism of the angiotensin converting enzyme (ACE) gene in 78 patients with primary vesicoureteral reflux (VUR), and examined renal function by dimercaptosuccinate (DMSA) renoscintigraphy and diethylenetriaminepenta-acetic acid (DTPA) renogram in each genotype. Patients were classified into three genotypes according to the ACE gene I/D polymorphisms: 32 in II genotype, 36 in ID, and 10 in DD. The incidence of presumably congenital unilateral small kidneys was high in DD patients (70%). Glomerular filtration rate obtained from DTPA renogram was 120.7±35.7 ml/min (expressed as mean±SD) in II genotype, 111.7±33.3 in ID, and 88.0±18.0 in DD. The total quantitative DMSA tracer uptake of both kidneys was also low in patients with the D allele. This study shows that the D allele of ACE gene is closely related to small congenital kidneys with refluxing ureters in patients with primary VUR, and in accordance with previous reports, this allele is also related to the progression of reflux nephropathy. Received: 27 November 2000 / Revised: 10 April 2001 / Accepted: 10 April 2001     

Early and frequent development of ocular hypertension in children with nephrotic syndrome

Background

Prednisolone, the first-line treatment for children with nephrotic syndrome, causes severe side effects. One of these side effects is ocular hypertension, which can result in severe and permanent visual disturbance. However, the exact prevalence, severity and timing of development of ocular hypertension have yet to be fully explored in this pediatric patient group.

Methods

In this retrospective cohort study, children with nephrotic syndrome treated with prednisolone for their first episode were analyzed. Intraocular pressure was screened with an iCare® tonometer and confirmed with Goldmann applanation tonometry before the initiation of prednisolone treatment and at 1 and 4 weeks thereafter.

Results

A total of 26 children with nephrotic syndrome were included in this study, of whom eight (30.8 %) required treatment with eye drops for ocular hypertension. The median time interval between the diagnosis of ocular hypertension and start of treatment was 9 (range 5–31) days. At relapse of nephrotic syndrome, all children who had undergone treatment for ocular hypertension in their first episode again required treatment for ocular hypertension.

Conclusions

Routine ophthalmologic examination should be conducted from the early phase after the start of prednisolone treatment. In addition, children with episodes of ocular hypertension may be at greater risk of its reappearance with relapse of the nephrotic syndrome.     

Epithelial cell death markers in bronchoalveolar lavage correlate with chronic lung allograft dysfunction subtypes and survival in lung transplant recipients—a single‐center retrospective cohort study

Chronic lung allograft dysfunction (CLAD) remains the leading cause of late death after lung transplantation. Epithelial injury is thought to be a key event in the pathogenesis of CLAD. M30 and M65 are fragments of cytokeratin‐18 released specifically during epithelial cell apoptosis and total cell death, respectively. We investigated whether M30 and M65 levels in bronchoalveolar lavage (BAL) correlate with CLAD subtypes: restrictive allograft syndrome (RAS) versus bronchiolitis obliterans syndrome (BOS). BALs were obtained from 26 patients with established CLAD (10 RAS, 16 BOS) and 19 long‐term CLAD‐free controls. Samples with concurrent infection or acute rejection were excluded. Protein levels were measured by ELISA. Variables were compared using Kruskal–Wallis, Mann–Whitney U test and Chi‐squared tests. Association of M30 and M65 levels with post‐CLAD survival was assessed using a Cox PH models. M65 levels were significantly higher in RAS compared to BOS and long‐term CLAD‐free controls and correlated with worse post‐CLAD survival. Lung epithelial cell death is enhanced in patients with RAS. Detection of BAL M65 may be used to differentiate CLAD subtypes and as a prognostic marker in patients with established CLAD. Understanding the role of epithelial cell death in CLAD pathogenesis may help identify new therapeutic targets to improve outcome.     

New Generation Extracorporeal Membrane Oxygenation With MedTech Mag‐Lev,a Single‐Use,Magnetically Levitated,Centrifugal Blood Pump: Preclinical Evaluation in Calves

We have evaluated the feasibility of a newly developed single‐use, magnetically levitated centrifugal blood pump, MedTech Mag‐Lev, in a 3‐week extracorporeal membrane oxygenation (ECMO) study in calves against a Medtronic Bio‐Pump BPX‐80. A heparin‐ and silicone‐coated polypropylene membrane oxygenator MERA NHP Excelung NSH‐R was employed as an oxygenator. Six healthy male Holstein calves with body weights of about 100 kg were divided into two groups, four in the MedTech group and two in the Bio‐Pump group. Under general anesthesia, the blood pump and oxygenator were inserted extracorporeally between the main pulmonary artery and the descending aorta via a fifth left thoracotomy. Postoperatively, both the pump and oxygen flow rates were controlled at 3 L/min. Heparin was continuously infused to maintain the activated clotting time at 200–240 s. All the MedTech ECMO calves completed the study duration. However, the Bio‐Pump ECMO calves were terminated on postoperative days 7 and 10 because of severe hemolysis and thrombus formation. At the start of the MedTech ECMO, the pressure drop across the oxygenator was about 25 mm Hg with the pump operated at 2800 rpm and delivering 3 L/min flow. The PO₂ of the oxygenator outlet was higher than 400 mm Hg with the PCO₂ below 45 mm Hg. Hemolysis and thrombus were not seen in the MedTech ECMO circuits (plasma‐free hemoglobin [PFH] < 5 mg/dL), while severe hemolysis (PFH > 20 mg/dL) and large thrombus were observed in the Bio‐Pump ECMO circuits. Plasma leakage from the oxygenator did not occur in any ECMO circuits. Three‐week cardiopulmonary support was performed successfully with the MedTech ECMO without circuit exchanges. The MedTech Mag‐Lev could help extend the durability of ECMO circuits by the improved biocompatible performances.     

Mass survey for coronary lesions in school children with history of Kawasaki disease in Shimane Prefecture

In 1981, a mass survey for Kawasaki disease was performed in Shimane Prefecture. The incidence of the disease was 0.3% in elementary and 0.1% in junior high schools, respectively. The number of children with a past history of Kawasaki disease was 40. Selective coronary arteriography (S-CAG) was performed on 37 children by December 1983 and 3 cases having coronary lesions were detected. In all these 3 children, more than 8 years had elapsed since the onset of the disease and in one of them there were severe stenotic changes in the coronary artery, with coexisting mitral incompetence. Two-dimensional echocardiography (2D echo) was able to detect dilatatory coronary lesions, but it failed to delineate stenotic changes adequately in these 3 cases. The present data indicate that 2D echo cannot demonstrate the stenotic segments of the coronary artery and therefore S-CAG is necessary for that purpose. We suggest coronary arteriography (CAG) for school children with a past history of Kawasaki disease.     

A sevoflurane induction of anesthesia with gradual reduction of concentration is well tolerated in elderly patients

PURPOSE: To establish the appropriate inhalation induction technique using a high concentration of sevoflurane in the elderly. METHODS: Forty-five patients, aged 70-79-yr-old, were randomly divided into three groups: 1) Group I: anesthesia was induced with propofol 2 mg x kg(-1) and sevoflurane 2% (n = 15); 2) Group II: anesthesia was induced with a three- minute inhalation of sevoflurane 8%; 3) Group III: anesthesia was induced with inhalation of sevoflurane using a gradual reduction technique (8, 6, 4% for each minute). In Groups II and III, a modified vital capacity inhalation induction was performed. Mean arterial pressure (MAP), heart rate (HR) and oxygen saturation (SpO(2)) were measured continuously during induction. In addition, induction time and adverse events related to anesthetic induction were recorded. RESULTS: The induction time in Group I was significantly shorter than that in Groups II and III (P < 0.05). However, there was no difference in the induction time between Groups II and III. In Groups II and III, the majority of patients required additional breaths. In comparison with the other groups, stability of MAP was maintained in Group III. The variations of HR in all groups were small. During induction, no patient experienced a decrease in SpO(2) below 96%, except for two patients in Group I. Severe respiratory adverse events were not observed. Other adverse events were similar in all groups. CONCLUSIONS: Our results suggest that a high concentration sevoflurane induction using a gradual reduction technique may be an acceptable alternative to standard iv induction in elderly patients.