Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report

We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder.     

Use of Indwelling Pleural Catheter in the Outpatient Management of Recurrent Malignant Pleural Effusion

IntroductionTo analyse the effectiveness and safety of the indwelling pleural catheter in the management of recurrent malignant pleural effusion.Patients and methodsA prospective multicentre study was performed in 63 consecutive outpatients from four Spanish hospitals. A total of 43 men and 20 women were included, with a median age of 67 years. In seven of the cases treatment with pleurodesis had failed; in five other cases their lung was trapped; in another five cases after repeat therapeutic thoracocentesis, and the rest of them as a preference choice to pleurodesis. All patients had an indwelling pleural catheter inserted (PleurX^®, Denver Biomedical).ResultsMost of patients (94.5%) reported an improvement in their respiratory symptoms (cough and dyspnoea) and their ability to function independently. Average length of the catheterisation was 45 days (6-222). Average amount of drained pleural effusion was 75 ml, with a frequency of drainage of between 3 and 4 times per week and once fortnightly. Spontaneous pleurodesis was achieved following 34.9% of procedures. No complications occurred during the insertion of the catheter. The post-catheterisation complications were empyema (3 cases), chest pain (2 cases), and tumour metastasis (3 cases).ConclusionsThe use of an indwelling pleural catheter is an effective palliative treatment in the outpatient management for patients suffering malignant pleural effusion. It is also a simple treatment that can be easily applied, does not require hospitalisation and can be easily managed by the patient at home, with a low rate of complications.     

Volumetrical measurements in vestibular schwannoma, the influence of slice thickness and patient's repositioning.

OBJECTIVE: Conservative treatment in vestibular schwannomas is mainly dependent on optimal tumor size determination. The first objective of this study was to establish interobserver and intraobserver variability and the accuracy and reproducibility of three different measurement methods: one bidimensional and two volumetrical. The second objective was to evaluate the influence of the use of different magnetic resonance imaging (MRI) slice thickness and the influence of patient's repositioning on the measurements' outcome. STUDY DESIGN: Two consecutive studies have been prospectively performed, both mainly concerning volumetrical measurements. SETTING: Both studies were performed in a tertiary academic, multidisciplinary center. PATIENTS: In the first study, 19 patients were included between March 1996 and May 2002, with a total of 52 scans. The second study comprised 14 patients. All patients in the first study had at least two MRI examinations performed according to a standard protocol (T1-weighted gadolinium-enhanced, slice thickness of 3 mm, and interslice gap of 0.3 mm). The population in the second study underwent a conservative wait and scan (W&S) treatment. METHODS: Both studies are discussed separately. In the first study, all scans were measured by four investigators, two of whom performed the measurements twice using three different methods. The first method concerns a manually performed bidimensional surface measurement along the petrous pyramid. The second method concerns a semiautomatic volumetrical measurement on a computer, relying on contour detection, and the last method concerns a fully automatic volume reconstruction also performed on a computer using different gray shade scales.All 14 patients included in the second study underwent three magnetic examinations. Three different T1-weighted gadolinium-enhanced sequences were used: the first using a slice thickness of 1 mm, the second again with 1-mm slice thickness but after having repositioned the patient. In the third sequence, a slice thickness of 3 mm was used. All scans were measured by two investigators using the three different methods, as described previously. RESULTS: The manual surface method shows large intraobserver variability, and its reproducibility is significantly lower compared with volume measurements. Because of a relatively large systematic error in small tumors, sensitivity of growth detection is low. Both volumetrical methods are hardly interobserver- and intraobserver-dependent, and the gray shade method turned out to be the most accurate. Radiologic progression is only significant at a volume increase of at least 50%. The influence of patient repositioning is negligible, whereas the use of 1-mm slice thickness seems to be superior to a 3-mm slice thickness. CONCLUSION: The volumetrical gray shade method is the most accurate method to detect early tumor progression. As tumor increase of at least 50% is needed to be able to speak of statistically significant tumor growth, the absence of radiologic progression does not mean that there is no tumor growth. Repositioning of the patient has no influence on the measurements' outcome, whereas for optimal magnetic resonance imaging examinations, a 1-mm slice thickness protocol seems to be superior.     

Production of a human monoclonal anti-epithelial cell surface antibody derived from a patient with pemphigus vulgaris.

The production of monoclonal autoantibodies derived from individuals with autoimmune diseases constitutes a powerful tool to analyse an autoimmune process at both the antigen and antibody levels. We established a human anti-epithelial cell surface monoclonal antibody by applying hybridoma technology using peripheral blood lymphocytes from a patient with pemphigus vulgaris using a heteromyeloma as the fusion partner. The F12 monoclonal antibody displays four major characteristics: (1) it belongs to the IgM, kappa class; (2) it binds to the cell surface of stratified squamous and simple epithelia; (3) it recognizes an antigenic determinant associated with the desmosomal complex as demonstrated by indirect immunoelectron microscopy; (4) by immunoblotting analysis, it reacts with a 185 kDa polypeptide which was also recognized by a few pemphigus vulgaris sera. Although the F12 monoclonal antibody does not have the immunochemical properties of classical pemphigus vulgaris autoantibodies, several arguments suggest its relevance to the pemphigus vulgaris autoimmune response and, therefore, the heterogeneity of the antigen/antibody systems involved in this autoimmune disorder.     

Adhesive properties of Haemophilus influenzae to different human cells

The adhesion of 19 nontypable strains and 3 typable (type b) Haemophilus influenzae to human cells was examined using buccal epithelial cells (BEC), the continuous HEp-2 cell line and human 0 erythrocytes. The strains were classified into three phenotypes, according to their adhesive properties. Phenotype 1 consists of strains that adhere to both buccal epithelial cells and HEp-2 cells. Phenotype 2 consists of strains that adhere to both buccal epithelial cells and erythrocytes and strains belonging to phenotype 3 adhere to none of the three cell types used. Among 22 strains studied, 18 (81.8%) belonged to phenotype 1, 2 (9.1%) to phenotype 2 and 2 (9.1%) to phenotype 3. Fimbriae were observed for 11 (61%) among the 18 adherent strains belonging to phenotype 1. The 7 nonpiliated strains adhered with a significant adhesion index, thus this results would indicate that a non fimbrial adhesin exists.     

Endoscopic diagnosis and treatment of Mirizzi's syndrome.

Mirizzi's syndrome is the name given to common bile duct obstruction secondary to a stone in the cystic duct. The cause of the biliary obstruction is often difficult to establish before operation. We report two cases of Mirizzi's syndrome, diagnosed endoscopically and treated without surgery. One of the patients was treated by drainage of both the common bile duct and the gallbladder associated with monooctanoin dissolution of the gallstone. The other was treated by common bile duct stenting.