Search results for " Preschool."

Chlorinated Hydrocarbon Residues (PCB and DDT) in Human Liver, Adipose Tissue and Brain in Finland

2009

In this work the concentration of chlorinated hydrocarbons (PCB and DDT) was analyzed from 73 autopsy samples. Half of the material came from the coastal area of the Gulf of Bothnia and the other half from Central Finland. The correlation of the concentration of the drug to age, sex and the locality was studied as well as the occupation of the dead subjects.

Proinflammatory Cytokine Profiling of Tears from Dry Eye Patients by Means of Antibody Microarrays

2011

In the pathogenesis of keratoconjunctivitis sicca, immune processes are thought to play an important role. However, the exact details of the pathomechanisms are still unknown. In this study, the expression patterns of proinflammatory cytokines in the tears of patients with different subtypes of dry eye were analyzed.One hundred forty-three subjects subdivided into healthy controls (CTRL, n = 38), patients with aqueous-deficient dry eye (DRYaq, n = 35), patients with changes of the lipid layer (DRYlip, n = 36), and patients with a combination of both (DRYaplip, n = 34) were examined. Expression patterns of proteins (e.g., IL-1β, IL-6, ITNF-α, and IFN-γ) were examined using an advanced antibo…

Virtual endoscopy of the inner ear and the auditory canal.

2000

To assess the role of virtual endoscopy (VE) in the examination of intracisternal structures and of the inner ear, we studied the anatomy of the labyrinth and internal auditory canal using the original CT slices and VE on the unaffected side in three female and three male patients, age range 3–46 years, with contralateral retrocochlear hearing loss. We also examined seven patients with different pathological findings. VE was performed using an advanced postprocessing program with high- resolution 3D data sets of CT (1–1.5 mm thickness, pitch 1.25) and MRI-CISS-3D (constructive interference in steady state) images of the basal cisterns (1.5 T, slice thickness 0.7–1 mm). VE provides an endosc…

Thyroid-associated orbitopathy is linked to gastrointestinal autoimmunity

2014

Summary Common autoimmune disorders tend to co-exist in the same subjects and cluster in families. The objective of this study was to determine the prevalence of autoimmune co-morbidity in patients with autoimmune thyroid disease (AITD) with and without thyroid-associated orbitopathy (TAO). This was a cross-sectional study conducted at an academic tertiary referral centre. Of 1310 patients with AITD [n = 777 or 59% with Graves' disease (GD) and n = 533, 41% with Hashimoto's thyroiditis (HT)] followed at a specialized joint thyroid–eye out-patient clinic, 176 (13·4%) had an adult type of the autoimmune polyglandular syndrome, 129 (9·8%) type 1 diabetes, 111 (8·5%) coeliac disease, 60 (4·6%) …

PORCN mutations in focal dermal hypoplasia: coping with lethality.

2009

Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …

Carbohydrate-deficient glycoprotein syndromes: The Italian experience

2000

Increased prevalence of autoimmune diseases in first-degree relatives of patients with celiac disease.

2003

The prevalence of autoimmune disorders is increased in patients with celiac disease (CD), and it is unknown whether their first-degree relatives also have a high risk of autoimmune disorders.To assess the prevalence of autoimmune diseases in first-degree relatives of CD patients, the authors looked for autoimmune disorders in 225 first-degree relatives of 66 children with CD (group A) and in 232 first-degree relatives of 68 healthy children (group B). For both groups, serologic screening for CD was performed through antiendomysium (EMA) and tissue transglutaminase autoantibodies (tTGAA). EMA- and tTGAA-positive subjects were offered an intestinal biopsy. The age at onset of autoimmune disea…

Functional characterization of hepatocytes for cell transplantation: customized cell preparation for each receptor.

2009

The first indication of hepatocyte transplantation is inborn liver-based metabolic disorders. Among these, urea cycle disorders leading to the impairment to detoxify ammonia and Crigler-Najjar Syndrome type I, a deficiency in the hepatic UDP-glucuronosyltransferase 1A1 present the highest incidence. Metabolically qualified human hepatocytes are required for clinical infusion. We proposed fast and sensitive procedures to determine their suitability for transplantation. For this purpose, viability, attachment efficiency, and metabolic functionality (ureogenic capability, cytochrome P450, and phase II activities) are assayed prior to clinical cell infusion to determine the quality of hepatocyt…

Gonial angle growth patterns according to age and gender

2017

Currently there are controversial results about gender and age differences in human gonial angle values. In this context we aimed to ascertain the gender and age differences in the gonial angle values of young Caucasian Mediterranean subjects. We tested the hypothesis of a relation between the gonial angle values and the gender and age of the subjects by means of a prospective study involving 266 subjects. Panoramic radiographs (Cranex Novus®, XMIND Novus® Soredex, France) were carried out in order to measure the gonial angle values. We found significant differences between females and males in the subgroups aged ≤10years old (128.6±3.4 vs 126.8±4.5, p=0.017), 16-20 years old (119.1±5.6 vs …

PRRT2 mutations are the major cause of benign familial infantile seizures.

2012

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large fami…