Aetiological investigation of sensorineural hearing loss in children.

A survey of aetiological investigations arranged on children with severe/profound bilateral sensorineural hearing impairment by ENT consultants and community paediatricians working in audiology is described. Greater routine use of ECG, urine analysis, and ophthalmological assessment is needed, with a more selective approach to other investigations as recommended by the British Association of Audiological Physicians (BAAP) and the British Association of Community Doctors in Audiology (BACDA).

Changes in erythropoiesis in hereditary hemochromatosis are not mediated by HFE expression in nucleated red cells.

Background And Objectives: The HFE protein interacts with the transferrin receptor (TfR) to regulate cellular iron uptake. Nucleated erythroid cells have the highest number of TfR and the greatest iron uptake. The aim of this study was to investigate whether erythroid iron uptake is directly affected by HFE mutations.

Cellular proteolysis and systemic inflammation during exacerbation in cystic fibrosis.

Background: Weight loss indicates a poor prognosis in cystic fibrosis (CF). We hypothesised that fat-free mass (FFM) depletion and increased systemic inflammation would be associated with increased cellular proteolysis during an exacerbation of the respiratory symptoms. Patients were studied prospectively from the beginning of treatment with antibiotics when admitted to the Adults CF Centre.

Molecular and cellular mechanisms of lymphangiogenesis.

Lymphangiogenesis is the growth and formation of new lymphatic vessels. It occurs in normally developing tissues and in pathological processes like inflammation, wound healing, lymphoedema and in cancer. New molecular markers that are specific to the lymphatic endothelium include: podoplanin, prox-1 and LYVE-1.

Sonographically guided core biopsy in the assessment of thyroid nodules.

Purpose: This study was conducted to assess the value of sonographically guided core biopsy in the evaluation of thyroid nodules by comparison with fine-needle aspiration cytology (FNAC) performed with and without sonographic guidance.

Methods: We performed a retrospective analysis of a consecutive series of 645 thyroid samples obtained at a single center. Samples came from 422 patients who underwent FNAC (with or without sonographic guidance), sonographically guided core biopsy, or excision of thyroid tissue with or without prior frozen sectioning.

Interleukin 7 upregulates vascular endothelial growth factor D in breast cancer cells and induces lymphangiogenesis in vivo.

Background: Interleukin (IL) 7 is known to stimulate growth of breast cancer cells in vitro. It has been recently associated with node-positive tumours and with poor survival in breast cancer. The effects of IL-7 on the lymphangiogenic properties of breast cancer cells were explored.

Human monocyte isolation methods influence cytokine production from in vitro generated dendritic cells.

There is growing interest in the in vitro generation of dendritic cells (DC) from peripheral blood monocytes, but the effect of the method chosen to isolate CD14+ monocytes for subsequent DC generation is poorly documented. The method used to isolate monocytes may have an impact on the subsequent function of DC by affecting their ability to express costimulatory molecules (CD80/86), maturation marker (CD83) and/or to produce important immunomodulatory cytokines. In this study, we show that the positive selection of monocytes by anti-CD14-coated microbeads inhibits the lipopolysaccharide (LPS)-induced production of interleukin (IL)-12, IL-10 and tumour necrosis factor-alpha (TNF-alpha) from human DC.

Staphylococcus aureus re-colonization in atopic dermatitis: beyond the skin.

Patients with atopic dermatitis (AD) are often heavily colonized by Staphylococcus aureus, which adversely affects eczema severity. Strategies to control S. aureus in AD include antibiotic and or antiseptics.

Role of routine preoperative lymphoscintigraphy in sentinel node biopsy for breast cancer.

Sentinel node biopsy (SNB) is rapidly emerging as the preferred technique for nodal staging in breast cancer. When radioactive colloid is used, a preoperative lymphoscintiscan is obtained to ease sentinel lymph node (SN) identification. This study evaluates whether preoperative lymphoscintigraphy adds diagnostic accuracy to offset the additional time and cost required.

Evaluation of a service development to increase detection of urinary tract infections in children.

Rationale, Aims And Objectives: It is suspected that childhood urinary tract infection (UTI) remains under-diagnosed in primary care, and is consequently the cause of subsequent morbidity from renal scarring, hypertension and eventual renal failure. Practice-based education and service developments were undertaken to try to improve the detection of childhood UTI.

Methods: A controlled before-and-after intervention study was conducted.

Strain rate imaging after dynamic stress provides objective evidence of persistent regional myocardial dysfunction in ischaemic myocardium: regional stunning identified?

Objective: To investigate whether persistent ischaemic dysfunction of the myocardium after dynamic stress can be diagnosed from changes in ultrasonic strain rate and strain.

Design: Prospective observational study, with age matched controls.

Setting: University hospital.

Measuring adaptations of motivational interviewing: the development and validation of the behavior change counseling index (BECCI).

One of the most common challenges faced by health professionals is encouraging patients to change their behavior to improve their health. This paper reports the development of a checklist, the behavior change counseling index (BECCI). This aims to measure practitioner competence in behavior change counseling (BCC), an adaptation of motivational interviewing suitable for brief consultations in healthcare settings.

Thyroid disorders associated with pregnancy: etiology, diagnosis, and management.

Pregnancy has an effect on thyroid economy with significant changes in iodine metabolism, serum thyroid binding proteins, and the development of maternal goiter especially in iodine-deficient areas. Pregnancy is also accompanied by immunologic changes, mainly characterized by a shift from a T helper-1 (Th1) lymphocyte to a Th2 lymphocyte state. Thyroid peroxidase antibodies are present in 10% of women at 14 weeks' gestation, and are associated with (i) an increased pregnancy failure (i.

Evaluation of the safety and immunogenicity of synthetic Abeta42 (AN1792) in patients with AD.

Background: Abeta42-immunization reduces plaque burden and improves cognition in transgenic mouse models of Alzheimer disease (AD). This phase 1 study evaluated the safety, tolerability, and immunogenicity of AN1792 (human aggregated Abeta42) in patients with mild to moderate AD.

Methods: Twenty patients were enrolled into each of four dose groups and randomly assigned to receive IM AN1792 (50 or 225 microg) with QS-21 adjuvant (50 or 100 microg) or QS-21 only (control) in a 4:1 active:control ratio on day 0 and at weeks 4, 12, and 24.

Basal ganglia calcification in BB/E rats with diabetes.

Human diabetes is associated with cognitive impairment and structural abnormalities in the brain such as cerebral atrophy. The aetiology of these abnormalities is not known. The BB/E rat is a well-established model of type 1 (insulin dependent) diabetes.

A family based study of catechol-O-methyltransferase (COMT) and attention deficit hyperactivity disorder (ADHD).

Neurobiological studies have suggested that altered dopaminergic function may contribute to the etiology of attention deficit hyperactivity disorder (ADHD). The gene encoding catechol-O-methyltransferase (COMT) is an attractive candidate for ADHD susceptibility as it plays a major role in the degradation of dopamine. Moreover, a functional Val158Met polymorphism in COMT that alters the activity of the encoded protein has been strongly implicated in frontal lobe function, with the high activity Valine allele being associated with poorer performance, and ADHD is thought to involve fronto-striatal pathways.

Localization of bipolar susceptibility locus by molecular genetic analysis of the chromosome 12q23-q24 region in two pedigrees with bipolar disorder and Darier's disease.

Objective: The authors previously reported two families (pedigrees 324 and 5501) in which Darier's disease-a rare, autosomal dominant skin disease-and bipolar disorder cosegregate. In each of these families there is complete cosegregation of mood disorder with a segment of chromosome 12q23-q24, consistent with the existence of a highly penetrant dominant variant. Here molecular genetic analyses aimed at localizing and identifying the susceptibility gene in this region are reported.

Human endosialin (tumor endothelial marker 1) is abundantly expressed in highly malignant and invasive brain tumors.

Endosialin (tumor endothelial marker 1) is expressed preferentially by tumor endothelial cells but not by normal endothelium. Its protein domain architecture is homologous to that of CD93 and thrombomodulin (CD141), suggesting a similar function in mediating cell-cell interactions. The aim of this study was to investigate the expression pattern of endosialin in human brain tumors in a bid to decipher its contribution to tumor angiogenesis.

Designing a prosthesis to simulate the elastic properties of skin.

The materials which are currently used to make maxillofacial prostheses are far from ideal and require considerable improvement with respect to their ability to mimic the properties of skin. To this aim, a novel three-layered maxillofacial prosthesis has been designed consisting of a silicone rubber base layer, an inner gel layer and an outer polymeric coating (to simulate the elastic properties of skin). The aim of the work in this study was to develop the inner silicone gel layer which displays similar properties to facial skin.

Sildenafil (Viagra) corrects DeltaF508-CFTR location in nasal epithelial cells from patients with cystic fibrosis.

Background: Most patients with cystic fibrosis (CF) have a DeltaF508 mutation resulting in abnormal retention of mutant gene protein (DeltaF508-CFTR) within the cell. This study was undertaken to investigate DeltaF508-CFTR trafficking in native cells from patients with CF with the aim of discovering pharmacological agents that can move DeltaF508-CFTR to its correct location in the apical cell membrane.

Method: Nasal epithelial cells were obtained by brushing from individuals with CF.

Differential expression of the CCN family members Cyr61, CTGF and Nov in human breast cancer.

The CCN family members cysteine-rich 61 (Cyr61/CCN1), connective tissue growth factor (CTGF/CCN2) and nephroblastoma over-expressed (Nov/CCN3) play diverse roles in cells, are known to regulate cell growth, adhesion, matrix production and migration and are involved in endocrine-regulated pathways in various cell types. The role of these molecules in cancer remains controversial. In a cohort of 122 human breast tumours (together with 32 normal breast tissues) we have analysed the expression of all three CCN members at the mRNA and protein levels.