Abundance of domestic mites in dwellings of children and adolescents with asthma in relation to environmental factors and allergy symptoms.

Exposure to house dust allergens, mainly from domestic mites, is an important cause of allergic reactions in sensitized asthmatic patients. A total of 63 dust samples were collected from 16 flats in Bytom (south Poland); in each flat a person (age 4-17 years) suffering from bronchial asthma lived with his/her family. Mite density was calculated as the number of specimens per g of dust. The results were compared with household features and the data were statistically analyzed. In total 566 mite specimens were isolated, including 526 members of the family Pyroglyphidae (93%). The dominant species were Dermatophagoides pteronyssinus (60% of the total count) and Dermatophagoides farinae (32%). Pyroglyphids were found in all mite positive samples (68%) of which 35% also contained non-pyroglyphids, including glycyphagids, cheyletids and gamasids. The results suggest associations between the density of some mite taxa (per g of dust) and the following indoor environmental factors: presence of pets, number of inhabitants, coal-stoves as a type of heating, cleaning frequency, higher relative humidity, presence of flowers and PVC windows. The severity of asthma seems to be associated with the numbers of D. farinae, total domestic mites and live mites per g of dust.

Relationship between stroke severity, extensity of leukoaraiosis, and brain atrophy in patients with ischaemic stroke.

PURPOSE: Leukoaraiosis (LA), according to the latest classification, is white matter hyperintensity - morphological findings of small blood vessel disease of the brain. This radiological detection of small vessels disease is important because there are no technical possibilities to assess small vessels of the brain using computed tomography (CT) or magnetic resonance imaging (MRI) angiography. Our aim was to analysis the relationship between the extension of leukoaraiosis and severity of ischaemic stroke and brain atrophy. MATERIAL AND METHODS: We retrospectively analysed 77 head CT scans of patients admitted from the emergency room (ER) to the Radiology Department due to suspected stroke. We assessed the severity of leukoaraiosis using the van Swieten scale and brain atrophy by numerous linear measurements. RESULTS: Statistical analysis failed to demonstrate differences between LA1 and LA2 groups with regard to stroke severity in National Institutes of Health Stroke Scale (NIHSS) (p = 0.2159). There were no differences with regard to clinical severity of stroke between the study groups divided depending on the extent of brain atrophy. There were statistically significant differences with regard to the anterior horn width of the right and left lateral ventricle, posterior horn width of the right and left lateral ventricle, distance between occipital horn of the left lateral ventricle and internal surface of the cranium and third ventricle width depending on the severity of leukoaraiosis. CONCLUSIONS: The results of our studies present an association between the degree leukoaraiosis extension and brain atrophy, but no association between central nervous system tissue atrophy of extent of leukoaraiosis and ischaemic stroke severity.

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an unusual additional development of non-diabetic peripheral neuropathy and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identified a novel variant, homozygous for a 52 bp intronic deletion in the AGPAT2 locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis. Functional studies using RNA isolated from patient peripheral blood leucocytes showed abnormal RNA splicing resulting in the loss of 25 amino acids from the patient AGPAT2 protein coding sequence. Stability and transcription levels for the misspliced AGPAT2 mRNA in our patient nonetheless remained normal. Any AGPAT2 protein produced in our patient is therefore likely to be dysfunctional. However, formal linkage of this deletion to the neuropathy observed remains to be shown. The classical clinical presentation of a patient with AGPAT2-associated lipodystrophy shows normal cognition and no development of polyneuropathy. Cognitive disabilities and polyneuropathy are features associated exclusively with clinical CGL type 2 arising from seipin (BSCL2) gene mutations. This case study suggests that in some genetic contexts, AGPAT2 mutations can also produce phenotypes with primary polyneuropathy.

Leukoaraiosis - new concepts and modern imaging.

Leukoaraiosis is a pathological appearance of the brain white matter, which has long been believed to be caused by perfusion disturbances within the arterioles perforating through the deep brain structures. Due to its complex etiopathogenesis and clinical relevance, leukoaroisosis has been investigated in a multitude of studies. As regards the clinical implications of leukoaraiosis, this neuroimaging finding is strongly related to ischaemic stroke, unfavourable course of ischaemic stroke in the acute phase, worse long-term outcomes, and cognitive disturbances. The morphological changes in the deep white matter that are collectively described as leukoaraiosis, despite a seemingly homogenous appearance, probably resulting from various causes, such as atherosclerosis, neurotoxic factors including radiation therapy and chemotherapy, and neuroinfections. Based on our experience and recent literature, we present the symptomatology of leukoaroisosis and similar radiological abnormalities of the cerebral white matter.

Atherosclerosis risk factors in young patients formerly treated for idiopathic nephrotic syndrome.

UNLABELLED: A total of 30 patients (ten female/20 male), 9 years to 22 years old (mean age 17.3 years) and 30 healthy teenage controls (mean age 16.4 years) were included in our study. The patients had steroid-sensitive idiopathic nephrotic syndrome (INS) and had completed steroid therapy 4 years to 15 years ago. Height and weight, body mass index (BMI), body composition, and intima-media thickness (IMT) were determined, as were levels of total cholesterol (TCh), low-density lipoprotein cholesterol (LDL-Ch), high-density lipoprotein cholesterol (HDL-Ch), triacylglycerols (TAGs), homocysteine (HCY), and high-sensitivity C-reactive protein (hsCRP). We did not observe any differences between the study and control groups in IMT (0.47 +/- 0.1 vs 0.46 +/- 0.1 mm) and body composition (fat tissue and water content). Differences in HDL-Ch and hsCRP levels between groups were not significant. In the study group we found significantly higher TCh levels (187.6 +/- 57.2 mg/dl vs 158.8 +/- 25.7 mg/dl; P = 0.012), LDL-Ch (115.9 +/- 63.7 mg/dl vs 79.4 +/- 25.4 mg/dl; P = 0.005), HCY (12.3 +/- 7.7 micromol/l vs 7.6 +/- 1.6 micromol/dl; P < 0.001), apolipoprotein B (ApoB) (113.6 +/- 30.0 mg/dl vs 78.7 +/- 13.6 mg/dl; P < 0.001) and ApoA1 (203.5 +/- 50.8 mg/dl vs 156.5 +/- 12.4 mg/dl; P < 0.001) levels. Multi-factor analysis of the influence of independent factors (number of recurrences, duration of remission, age, gender, and BMI) on the parameters under investigation indicated a positive correlation between IMT and the number of recurrences. CONCLUSIONS: 1. Patients treated for idiopathic nephrotic syndrome in the past should undergo regular laboratory tests of atherosclerosis risk factors, including not only cholesterol and its fractions, but also ApoA1, ApoB and HCY. 2. It is necessary to continue systematic check-ups of the intima-media thickness of the carotid arteries among young patients with anamnesis of INS, especially among patients who suffered from numerous relapses of this disease.