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L1CAM gene mutations cause neurodevelopmental disorders collectively termed L1 syndrome. Insufficient information about L1CAM variants complicates clinical prognosis, genetic diagnosis and genetic counseling. We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.D202Y, p.M172I and p.T38M, located to the two N-terminal Ig-like domains pres

A chain is no stronger than its weakest link is an old idiom that holds true for muscle biology. As the name implies, skeletal muscle's main function is to move the bones. However, for a muscle to transmit force and withstand the stress that contractions give rise to, it relies on a chain of proteins attaching the cytoskeleton of the muscle fiber to the surrounding extracellular matrix. The import

PURPOSE: To better direct targeted therapies to the patients with tumors that express the target, there is an urgent need for blood-based assays that provide expression information on a consistent basis in real time with minimal patient discomfort. We aimed to use immunomagnetic-capture technology to isolate and analyze circulating tumor cells (CTC) from small volumes of peripheral blood of patien

The paper focuses on the uniqueness issue for scalar convection-diffusion equations where both the convective flux and diffusion functions have a spatial discontinuity. An interface entropy condition is proposed at such a spatial discontinuity. It implies the Kružkov-type entropy condition presented by Karlsen et al. in 2003. They proved uniqueness when the convective flux function satisfies an ad

BACKGROUND: The (anti neutrophil cytoplasmatic autoantibody ANCA), associated small vessel vasculitides (ASVV) are relapsing-remitting inflammatory disorders, involving various organs, such as the kidneys. (Monocyte chemoattractant protein 1 MCP-1) has been shown to be locally up regulated in glomerulonephritis and recent studies have pointed out MCP-1 as a promising marker of renal inflammation.

The aim of this investigation was to assess the outcome of secondary alveolar bone grafts 6 months after the procedure and examine the possible influence of patient sex, age at surgery, cleft width, and dehiscence of mucosa and sequestered bone at 2 weeks.

OBJECTIVES: To establish iodine (I) contrast medium (CM) doses iso-attenuating with gadolinium (Gd) CM doses regarded diagnostic in CTA and percutaneous catheter-angiography/vascular interventions (PCA/PVI) in azotemic patients. METHODS: CT Hounsfield units (HU) were measured in 20-mL syringes containing 0.01/0.02,/0.05/0.1 mmol/mL of iodine or gadolinium atoms and placed in phantoms. Relative con

Recently measured radiative lifetimes of the Rydberg series 6pnd 1/2[5/2](2)(0) and 1/2[3/2](2)(0) (n = 6 - 13) of PbI [Li et al., Phys. Rev. A 57, 3443 (1998)] have been compared with theoretical values obtained by means of multichannel quantum defect theory (MQDT) analyses. The MQDT parameters were obtained from experimentally determined energy levels. The channel admixture coefficients were cal

Electromagnetic scattering from a perfectly conducting elliptic disk is treated by means of the null-field approach. The disk is obtained as the zero-thickness limit of an ellipsoid. It is shown that in this limit all relevant matrix elements have a well-defined limit. Owing to the lack of axial symmetry, an integral that can not be solved analytically remains in the azimuthal angle. In an appendi

Artificial neural networks interpretation of myocardial perfusion scintigraphy (MPS) has so far been based on image data alone. Physicians reporting MPS often combine image and clinical data. The aim was to evaluate whether neural network interpretation would be improved by adding clinical data to image data. Four hundred and eighteen patients were used for training and 532 patients for testing th

OBJECTIVES: To explore the possibility that a paleolithic-like diet can be used in the prevention of age-related degenerative Western disease. METHODS: Literature review of African Paleolithic foods in relation to recent evidence of healthy nutrition. RESULTS AND DISCUSSION: Available evidence lends weak support in favor and little against the notion that lean meat, fish, vegetables, tubers, and f

Background One way of preventing and solving drug-related problems in frail elderly is to perform team-based medication reviews. Objective To evaluate the quality of the clinical pharmacy service to primary care using structured medication reviews, focusing on the clinical significance of the recommendations made by clinical pharmacists. Setting A random sample of 150 patients (out of 1541) who re

BACKGROUND: The objective was to analyze whether there is an association between country of birth in first-generation immigrants and first hospitalization for an inflammatory bowel disease, and to study whether any such association remains in second-generation immigrants. METHODS: In this follow-up study a nationwide research database at Lund University was used to identify all primary hospital d

The aim of the study was to describe the patients' experiences of the information and support they received after being placed on the waiting list for a heart or lung transplant. The design was qualitative, and the critical incident technique was used. Incidents were collected via interviews with 21 patients. A total of 357 important events, both positive and negative, were identified and divided

OBJECTIVE:: The severity of vasomotor symptoms has been hypothesized to be linked to a lower bone mineral density (BMD). We examined whether women with vasomotor symptoms are different from women without symptoms with regard to BMD. DESIGN:: We used data from a population-based sample of 5,600 women, aged 46 to 57 years and free from bone diseases, who participated in the first cross-sectional par