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BACKGROUND: Obesity represents a worldwide leading health problem. Although the proportion of adolescent obesity is continuously rising, yet little is known considering adolescent's opinions regarding this condition. AIM: To investigate adolescent's perceptions in relation to various aspects of obesity in a prospective cohort study. SUBJECTS AND METHODS: The study population included primary school adolescents, 11-12 years of age. Anthropometric measurements of participants included height and weight. Overweight and obese participants were classified using the International Obesity Task Force criteria. A structured questionnaire assessing physical activity, dietary habits, parental guidance regarding dietary intake and psychological aspects in relation to social functioning, body weight and image was completed by each adolescent. RESULTS: Three hundred and thirty-five adolescents (181 boys) formed the study group. Obese participants were found to have significantly fewer friends (p = .050) and preferred indoor sedentary activities (p = .041). No differences were observed within the groups when questioned about their eating habits in terms of appetite and hunger. The majority of participants reported frequent consumption of homemade snacks in school resulting in no significant difference within the groups. Finally, body weight satisfaction was recorded for only 5.66% of the obese children, 25.66% and 68.64% of overweight and normal-weight participants respectively. CONCLUSIONS: Our findings support the notion that adolescents are perfectly capable of expressing their opinions. When planning interventional programs for the management of adolescent obesity their views should be strongly considered.
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Biomarkers are extremely important in the case of multisystemic diseases, such as lysosomal storage disorders (LSDs), which are often difficult to assess in clinical practice. Several studies demonstrated significant alterations in the expression of extracellular matrix (ECM) components in LSD patients, raising important questions in relation to their possible involvement in disease pathogenesis and providing evidence for their possible utility as disease biomarkers. This article provides an overview of the possible pathogenic correlations between LSDs and ECM. Data regarding the expression of these molecules are discussed. Finally, the possible implication of ECM components as therapeutic targets in this group of diseases along with the impact of the differential expression of these components in current LSD treatment will be critically addressed.
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Proteínas de la Matriz Extracelular/metabolismo , Matriz Extracelular/metabolismo , Glicosaminoglicanos/metabolismo , Enfermedades por Almacenamiento Lisosomal/metabolismo , Animales , Biomarcadores/metabolismo , Matriz Extracelular/efectos de los fármacos , Proteínas de la Matriz Extracelular/genética , Perfilación de la Expresión Génica , Humanos , Enfermedades por Almacenamiento Lisosomal/tratamiento farmacológico , Enfermedades por Almacenamiento Lisosomal/genética , Transducción de Señal/efectos de los fármacos , Transducción de Señal/genéticaRESUMEN
Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding the heavy chain of nonmuscle myosin IIA. May-Hegglin anomaly and Fechtner, Sebastian, and Epstein syndromes are the four phenotypes of the disease, characterized by congenital macrothrombocytopenia and distinguished by different combinations of clinical signs that may include glomerulonephritis, sensorineural hearing loss, and presenile cataract. The spectrum of mutations responsible for the disease is wide and the existence of genotype-phenotype correlation remains a critical issue. We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. The same mutation was present in the patient's father, who exhibited no extrahematological features of the disease. The p.R1165C mutation is one of the MYH9 alterations whose prognostic significance is still poorly defined. Thus, the patients described add to the limited existing data on the MYH9 mutations and their resultant phenotypes.
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Catarata/diagnóstico , Catarata/genética , Hematuria/diagnóstico , Hematuria/genética , Proteínas Motoras Moleculares/genética , Cadenas Pesadas de Miosina/genética , Mutación Puntual/genética , Adolescente , Análisis Mutacional de ADN , Diagnóstico Diferencial , Grecia , Humanos , MasculinoRESUMEN
Metachromatic leukodystrophy (MLD) represents a devastating lysosomal storage disease characterized by intralysosomal accumulation of the sphingolipid sulfatide in various tissues. Three types of the disease are currently distinguished: the late-infantile, which is the most commonly observed, the juvenile and the adult type. Demyelination represents the main histopathological feature of the disorder, leading to neurological impairment with no curative treatment currently available. Nevertheless, the increased scientific interest on the disease has led to the experimental use of innovative therapeutic approaches in animal models, aiming to provide an effective therapeutic regimen for human patients, as well. This paper provides an overview of developing treatment options among patients with MLD. Apart from hematopoietic stem cell transplantation, already in use for decades, other recent data discussed includes umbilical cord blood and stem cell transplantation, enzyme replacement therapy, gene therapy and autologous hematopoietic transplantation of genetically modified stem cells. Gene therapy with oligodedroglial, neural progenitor, embryonic and microencapsulated recombinant cells represents add-on treatment options still on experimental level.
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Leucodistrofia Metacromática/terapia , Animales , Trasplante de Células Madre de Sangre del Cordón Umbilical , Terapia de Reemplazo Enzimático , Terapia Genética , Trasplante de Células Madre Hematopoyéticas , Humanos , Leucodistrofia Metacromática/enzimología , Leucodistrofia Metacromática/genética , Células Madre Mesenquimatosas/citologíaRESUMEN
Mucopolysaccharidoses (MPS) represent a heterogeneous group of hereditary disorders, characterized by accumulation of glycosaminoglycans within the lysosomes. The objective of this study was to elucidate the expression and activity of matrix metalloproteinases (MMPs) in the serum of pediatric patients with MPS. Serum gelatinase activity was assessed by gelatin zymography and the concentration of circulating MMP-2, MMP-9, and of tissue inhibitors of MMPs (TIMP)-1 and TIMP-2 was measured by ELISA in the serum of seven patients with MPS (five with MPS III, 1 with MPS II and 1 with MPS VI), and healthy age- and sex-matched participants. Serum activity and protein levels of MMP-9 were significantly reduced whereas of MMP-2 were significantly increased in patients with MPS III, as compared to controls. There were no significant alterations in serum protein levels of TIMP-1 and TIMP-2 in patients with MPS III, as compared to controls. In MPS II, proMMP-2 activity and protein levels of MMP-2 were significantly increased, as compared to control. In MPS VI, enzyme replacement therapy reduced the activity and protein levels of MMP-9 up to 4 months after the initiation of treatment. The reported alterations in the expression of MMPs in the serum of patients with MPS suggest that these molecules may be used as potential biomarkers for the diagnosis, follow-up and response to therapy in patients with MPS.
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BACKGROUND: Juvenile Hyaline Fibromatosis (JHF) is a rare autosomal recessive disorder, histologically characterized by the production and deposition of an unidentified hyaline material in the skin and other organs. Extracellular matrix molecules are implicated in the development of skin lesion which is debilitating and recurrent and, so far, no treatment is satisfactory. OBJECTIVE: To investigate the expression of matrix metalloproteinases (MMPs), their tissue inhibitors (TIMPs) and proteoglycans in lesional as compared to site-matched lesion-free skin tissue specimens of a JHF patient, aiming to elucidate the aetiopathological mechanisms involved in the development of JHF skin lesions. METHODS: Gelatinase activity of MMP-2 and MMP-9 was investigated by gelatine zymography. Protein levels of MMP-2, MMP-9, TIMP-1 and TIMP-2 in skin tissue extracts were measured by ELISA. Gene expression of MMPs, TIMPs and proteoglycans was examined by quantitative RT-PCR. RESULTS: JHF lesions exhibited significantly higher activity as well as elevated protein and gene expression of MMP-2 and MMP-9, as compared to lesion-free skin tissue specimens. Decorin was downregulated and aggrecan was upregulated in lesional skin, as compared to normal skin. CONCLUSION: The results presented in this study indicate that MMPs and proteoglycans may be involved in the pathogenesis of JHF and therefore these molecules may offer alternative targets for pharmacological intervention to achieve more radical and effective treatment.