Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Table 1     

Force displacement characteristics of the posterior cruciate ligament.

The percent force changes in the posterior cruciate ligament were calculated using a previously validated computerized knee model after the femoral insertion sites were varied 2.5 and 5.0 mm in an anterior, posterior distal, anterior distal, and posterior distal direction. The tibial insertion sites were also varied 2.5 and 5.0 mm in the medial, lateral, proximal, and distal directions. Percent force changes were measured over a range of 0 degree to 90 degrees. These insertion sites simulated potential surgical placement errors. Results of this study demonstrated that the greatest percent force changes in the posterior cruciate ligament were at full extension. The greatest absolute percent force change between 0 degree and 90 degrees of flexion was with a femoral insertion of the posterior cruciate ligament placed 5 mm anterior to its normal attachment site, which resulted in a 39% change in the posterior cruciate ligament force. Distal femoral site attachment had the least effect (10% at 5.0 mm). Alterations at the tibial attachment site were less sensitive than on the femur; the greatest absolute percent force changes occurred with medial and lateral attachment sites (14% and 15%, respectively, at 5.0 mm). A minimal amount of percent force changes were seen between 45 degrees and 75 degrees of knee flexion in all positions tested for both tibial and femoral attachment sites. This model suggests that, like the anterior cruciate ligament, the force in the posterior cruciate ligament is also sensitive to attachment site position. As in anterior cruciate ligament studies, the femoral attachment site was found to be more sensitive.(ABSTRACT TRUNCATED AT 250 WORDS)     

Esophagus atresia after cervical spine surgery: case report and literature review

We report on a case of esophageal atresia following cervical spine surgery. A swallowing examination was performed using fibre-optic endoscopy and videofluoroscopy. There was scar tissue fixation of the larynx and esophagus to the cervical spine. Operative mobilization of the larynx and esophagus and formation of a sliding layer using a platysma-fascia flap was done. The PEG and tracheal cannula were removed; oral nutrition was initiated after 3 months. Swallowing disorders following operations on the upper cervical spine should be investigated. Careful preparation that preserves the layers should be carried out. Fixation of tissues as a result of scarring should be treated with a sliding layer.     

Development of a short version of the Apathy Evaluation Scale specifically adapted for demented nursing home residents.

OBJECTIVE: Apathy is among the most frequent neuropsychiatric symptoms in dementia, particularly Alzheimer disease. The Apathy Evaluation Scale (AES) has been widely employed for assessing apathy in different patient groups. To further facilitate the usage of the AES, an abbreviated version was constructed. METHOD: On basis of a sample of 356 nursing home residents, a cross-validation procedure was carried out to develop a brief version of the AES. According to a thorough clinical examination, 85% of the residents were demented, 8% presented with mild cognitive impairment, whereas 7% did not present any cognitive deficits. After subdividing the patient group into two matched samples, the first subsample was used to identify problematic items due to defined psychometric and content-related criteria. The original 18-item scale was thus reduced to 10 items. Psychometric properties of the shortened version were subsequently reassessed in the second subsample. RESULTS: The short version demonstrated favorable psychometric properties that could be confirmed by cross-validation with the second sample. Correlations with the original full-length version were high (r = 0.97 for both subsamples); the shortened scale yielded no substantial losses regarding internal consistency or construct validity (correlations with the respective subscales of the Neuropsychiatric Inventory). CONCLUSION: The frequency of apathetic symptoms in the nursing home residents included confirms the clinical importance of apathy for understanding dementia. Given this specific patient population, setting, and mode of data collection, the short-version AES seems to be a valuable and time-efficient instrument for assessing apathy.     

HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis

Abstract: Genetic hemochromatosis (GH) is closely associated with genes of the major histocompatibility complex (MHC) on chromosome 6. Recently, a candidate gene for GH, with structural similarities to MHC class I genes, designated HLA-H and presently named HFE, has been cloned. The HFE gene is localized telomeric to the MHC and several reports have indicated that the HFE gene is mutated in GH patients. In the present study we have analyzed the relationship of HFE gene variants and disease manifestation in GH patients and family members. Fifty-seven patients with GH, 73 family members and 153 healthy blood donors were studied for the amino acid dimorphism at codon 63 (His63Asp=H63D) and codon 282 (Cys282Tyr= C282Y) of the HFE gene. The codon 63 and 282 dimorphism were defined by PCR amplification of genomic DNA samples and restriction enzyme digestion using RsaI/SnaBI for C282Y and Bcll/Mbo 1 for H63D. Ferritin, transferrin serum levels and total iron-binding capacity were determined prior to therapeutic intervention. The Tyr-282 substitution occurred in 53 (93%) of patients compared with 8 (5.2%) of controls (OR=169, P >0.0001). Fifty-one (90%) patients were Tyr-282 homozygous. In contrast, the Asp-63 substitution was present in 5 (8.8%) of the patients compared with 34 (22%) of controls (OR=0.39, P =NS) with none of the patients being homozygous. In Tyr-282 homozygous GH patients serum ferritin levels, transferrin saturation, liver iron and liver iron index were elevated significantly compared to Tyr-282-negative patients, whereas no difference was observed between Tyr/Cys-282 heterozygous and Tyr-282-negative patients.     

A prospective study of tobacco use and multiple myeloma: evidence against an association

The relationship between the use of cigarettes and other tobacco products and the risk of multiple myeloma was examined in a cohort of nearly 250,000 American veterans followed prospectively for 26 years. Compared with men who had never used tobacco, the risk of death from myeloma was not increased among current (relative risk [RR]=0.9, 95 percent confidence interval [CI]=0.8–1.2) or former (RR=1.0, CI=0.8–1.3) cigarette smokers, nor among users of chewing tobacco or snuff (RR=1.0, CI=0.4–2.3). Risk was only slightly and nonsignificantly increased among pipe or cigar smokers (RR=1.2, CI=0.9–1.5). There was no indication of increasing risk with amount of tobacco used or earlier age at first use. With over 90 percent power to detect a 30 percent increased risk of this tumor occuring among current cigarette smokers, this study provides the strongest evidence to date against an association of cigarette smoking with multiple myeloma.Epidemiology and Biometry Program, Division of Cancer Etiology, National Cancer Institute. Westat, Inc. Rockville, MD. National Cancer Institute, 6130 Executive Blvd, Room 418, Rockville, MD 20892, USA.     

A simple cardiac contractility computer

A single-purpose analogue-computing device is described for the online assessment of the contractile state of the human myocardium from the left ventricular pressure (P_lv) data available during routine cardiac catheterisation. Due attention has been paid to the design of the computer circuits so that they will not process pressure phenomena outside the isovolumic contractile period. Either a \(\left( {\frac{1}{{P_{lv} }}\frac{{dP_{lv} }}{{dt}}} \right)_{max} \) or a plain \(\left( {\frac{{dP_{lv} }}{{dt}}} \right)_{max} \) index is presented on a digitalvoltmeter display, thus obviating the need for any graphical extrapolation or additional computation.     

Levels of quality management of blood transfusion services in Europe

The European blood legislation has defined several key quality elements to achieve Good Manufacturing Practice (GMP) in the field of blood transfusion. During the recent years, the blood legislation is in the process of implementation throughout its member states. Following the Directive 2002/98/EC, Directive 2005/62/EC has given further requirements for quality-management systems to be fulfilled by blood establishments. In addition, GMP/Good Laboratory Practice (GLP) and ISO standards are used inter alia by blood establishments. In order to support the implementation of the blood legislation, the European Public Health Work Plan (2005/2007) has cofunded two projects, led by the German Red Cross and supported by the European Blood Alliance, delivering a common European Standard Operating Procedure (SOP) methodology (EU-Q-Blood-SOP) and criteria and standards for the inspection of blood establishments (EUBIS). The EU-SOP manual will assist blood establishments in preparing for the inspection of their services related to the implementation of quality relevant elements required by the EU Directive 2002/98/EC and its technical annexes. The standards and criteria for inspection of blood establishments will cross-reference existing quality standards to the directive requirements and define requirements for the structure of quality-management systems based on the directive 2002/98/EC and its technical annexes. Based on these requirements, inspection standards and criteria are developed to assist in the independent assessment of quality systems established by individual blood establishments. These assessments are done in relation to the requirements defined by the European Union legislation on blood, in order to safeguard the quality of blood and to achieve continuous improvement of its quality throughout Europe.