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.     

Endoscopy mitigation strategy with telemedicine and low-cost device use for COVID-19 prevention: A fourth-level Colombian center experience

Background and study aimsThe COVID-19 outbreak has reorganized surgical team conditions regarding endoscopy. The number of interventions has been reduced, the number of healthcare professionals must be limited, and both the patients and physicians are more protected than ever.Patients and MethodsIn the highest peak of contagion in Colombia, endoscopy, colonoscopy, and esophagogastroduodenoscopy were performed using a low-cost disposable device. A total of 1388 procedures were performed. Every patient was assessed for symptoms via a telephone call, at the health center, and after the procedure, following specific attention routes.ResultsAfter procedure follow-up, no positive cases of COVID-19 were noted.ConclusionThe methodology reduced the risk of infection during the COVID-19 pandemic.     

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.     

Biochemical changes after a qigong program: lipids, serum enzymes, urea, and creatinine in healthy subjects.

BACKGROUND: The aim of the present study was to analyze the effects of a qigong training program on blood biochemical parameters. MATERIAL/METHODS: Twenty-nine healthy subjects participated in the study of whom 16 were randomly assigned to the experimental group and 13 to the control. The experimental subjects underwent daily qigong training for one month. Blood samples for the quantification of biochemical parameters (total cholesterol, HDL, LDL, triglycerides, phospholipids, GOT, GPT, GGT, urea, creatinine) were taken before and after the training program. As statistical analysis, ANCOVA was performed. RESULTS: Statistically significant differences were found showing that the experimental group had lower serum levels of GOT (glutamic-oxaloacetic transaminase), GPT (glutamic-pyruvic transaminase), and urea and that there was a trend towards significance in GGT (gamma-glutamyltransferase). CONCLUSIONS: This study demonstrates that after practicing qigong for the short period of one month, noteworthy changes in several blood biochemical parameters were induced. While it is tempting to speculate on the relevance and implications of these biochemical variations, further investigation is needed to elucidate the scope of these findings.     

Histological and clinical responses of articular cartilage to low-level laser therapy: Experimental study

This study was carried out to evaluate the effects of low-level laser irradiation on experimental lesions of articular cartilage. A standard lesion was practised on the femoral trochlea of both hindlimbs of 20 clinically normal Californian rabbits. These animals were divided into two groups of 10 individuals each, depending on the laser equipment used for treatment. Onc group was treated with He-Ne laser (8 J cm^-2, 632.8 nm wavelength) and the other with infra-red (IR) laser (8 J cm^-2, 904 nm wavelength). In both groups, five points of irradiation to the right limb alone were irradiated per session for a total of 13 sessions, applied with an interval of 24 h between sessions. These points were the following: left and right femoral epicondyles, left and right tibial condyles and the centre of articulation. The distance between these points was approximately 1 cm. The untreated left limb was left as a control. During treatment, extension angle and periarticular thickness were considered. At the end of the treatment, samples were collected for histopathologi-cal study and stained with: Haematoxylin-Eosin, PAS and Done. The results show a statistically higher anti-inflammatory capacity of the IR laser (p < 0.0001). The functional recovery was statistically similar for both treatments (p < 0.176). Histological study showed, at the end of the treatment, hyaline cartilage in the IR group, fibrocartilage in the He-Ne group and granulation tissue in the control limbs. Clinical and histological results indicated that this laser treatment had a clear anti-inflammatory effect that provided a fast recuperation and regeneration of the articular cartilage.     

Experience with hemoperfusion for organophosphate poisoning.

OBJECTIVE: To evaluate the usefulness of extracorporeal clearance techniques in the treatment of organophosphate poisoning, particularly hemoperfusion. DESIGN: Retrospective study. SETTING: An ICU of a general hospital. PATIENTS: Ten patients with organophosphate poisoning initially received classic treatment with gastric lavage and washing of the whole skin surface, as well as the administration of cathartics, activated charcoal, atropine, and obidoxime or pralidoxime. All patients underwent one to three hemoperfusions. MEASUREMENTS AND MAIN RESULTS: Plasma insecticide concentrations and cholinesterase activity were determined daily. Two to three biopsies of fat tissue were carried out at 1- to 2-wk intervals. The amount of the insecticide removed during hemoperfusions was also determined. Five patients presented with a prolonged nicotinic syndrome. Two of these patients showed sequelae of delayed neurotoxicity. Another two of the five patients died and the remaining patient recovered without sequelae. In none of the patients could > 0.1% of the total absorbed poison be removed by hemoperfusion. No changes in symptoms were observed after these procedures. Fat tissue concentrations of the insecticide were 20 to 50 times higher than the concentrations in plasma. Atropine decreased the intestinal transit time, and 10 days after poisoning, a powerful cathartic treatment indicated the persistence of gut content, which probably caused prolonged absorption of the toxin. CONCLUSIONS: Extracorporeal cleansing mechanisms did not remove any clinically important amount of insecticide from our patients due to the high lipid solubility of these agents and no changes in symptoms were observed after these methods. The use of atropine decreases bowel peristalsis. Early use of powerful cathartics could avoid protracted absorption of the poison stored in the gut, although the potential benefits of this therapy require confirmation by the performance of prospective, controlled investigations.     

Cytokine production, activation marker, and skin homing receptor in children with atopic dermatitis and bronchial asthma

T cells are known to develop a critical role in the pathogenesis of atopic dermatitis (AD) and bronchial asthma. T cells involved in AD express the skin homing receptor CLA, but no lung homing receptor has been identified in bronchial asthma. We compared different cell markers and the cytokine production in T cells from children with AD or bronchial asthma. We studied the involvement of CLA+ and CLA- T-cell subpopulations in these diseases. We studied 20 children with acute AD lesions, 15 with mild persistent asthma, and 15 non-atopic controls. All patients were sensitized to house dust mite (DP) and evaluated during the acute phase. Total and specific IgE were measured by immunoassay and the expression of different cell markers and the cytokine production was analyzed by flow cytometry in peripheral blood mononuclear cells. Total IgE was significantly higher in AD children and IgE to DP in the asthmatic children. There was a significant increase in CD25+ CD4+ cells in asthmatic children and in HLA-DR+ CD4+ and HLA-DR+ CD8+ cells in AD. In the CD4+ subsets, there was an increase in IL-13, IL-5 and TNF-alpha in AD compared to controls, a decrease in IFN-gamma in asthmatic children compared to controls, and an increase in IL-13, IL5, IL2, TNF-alpha, and IFN-gamma in the AD compared to asthmatic children. Changes in cytokine production were mainly detected in CLA+ cells in AD and in CLA- cells in asthma. Differences exist in total and specific IgE, activation markers, and cytokine patterns between AD children and children with asthma, with the former expressing a Th2 pattern whereas in asthmatic children we only detected a decrease in IFN-gamma. Moreover, the subpopulations (CLA+ vs. CLA-) expressing these changes were different, indicating that the underlying mechanisms in the two diseases are not exactly the same.