Project description:Whole-genome expression studies in peripheral tissues of patients affected by schizophrenia (SCZ) can provide new insights into the molecular basis of the disorder and innovative biomarkers that may be of great usefulness in the clinical practice. Recent evidence suggests that skin fibroblasts could represent a non-neural peripheral model useful to investigate molecular alterations in psychiatric disorders. A microarray expression study was conducted comparing transcriptomic profiles of skin fibroblasts from SCZ patients and controls. Fibroblasts can be more advantageous to discover mental disorder aetiological mechanisms since they seem more similar to neurons and less affected by the environmental confounders.
Project description:We established two iPSC lines starting from skin fibroblasts of two healthy individuals using Sendai-virus-based technique. The obtained iPSCs were characterized showing same STR profile as starting fibroblasts, normal karyotype, loss of stemness vectors, expression of stemness markers, both through real-time PCR and immunofluorescence, (OCT4, SOX2, TRA-1-60, NANOG and SSEA4) and in vitro differentiation into three germ layers.
Project description:Whole-genome expression studies in peripheral tissues of patients affected by schizophrenia (SCZ) can provide new insights into the molecular basis of the disorder and innovative biomarkers that may be of great usefulness in the clinical practice. Recent evidence suggests that skin fibroblasts could represent a non-neural peripheral model useful to investigate molecular alterations in psychiatric disorders. A microarray expression study was conducted comparing transcriptomic profiles of skin fibroblasts from SCZ patients and controls. Fibroblasts can be more advantageous to discover mental disorder aetiological mechanisms since they seem more similar to neurons and less affected by the environmental confounders. Transcriptomic profiles of human skin fibroblasts obtained from 20 schizophrenia patients were compared to 20 controls
Project description:Compared to other popular research domains, dermatology got less attention among machine learning researchers. One of the main concerns for this problem is an inadequate dataset since collecting samples from the human body is very sensitive. In recent years, arsenic has emerged as a significant issue for dermatologists. Arsenic is a highly toxic substance found in the earth's crust whose small amounts can be very injurious to the human body. People who are exposed to arsenic for a long time through water and food can get cancer and skin lesions. With a view to contributing to this aspect, this dataset has been organized with the help of which the researchers can understand the impact of this contamination and design a solution using artificial intelligence. To the best of our knowledge, this is the first standard, easy-to-use, and open dataset of arsenic diseases. The images were collected from four places in Bangladesh, under the Department of Public Health Engineering, Chapainawabganj, where they are working on arsenic contamination. The dataset has 8892 skin images, with half of them showing people with arsenic effects and the other half showing mixed skin images that are not affected by arsenic. This makes the dataset useful for treating people with arsenic-related conditions. Eventually, this dataset can attract the attention of not only the machine learning researchers, but also scientists, doctors, and other professionals in the associated research field.
Project description:Gorlin's or nevoid basal cell carcinoma syndrome (NBCCS) causes predisposition to basal cell carcinoma (BCC), the commonest cancer in adult human. Mutations in the tumor suppressor gene PTCH1 are responsible for this autosomal dominant syndrome. In NBCCS patients, as in the general population, ultraviolet exposure is a major risk factor for BCC development. However these patients also develop BCCs in sun-protected areas of the skin, suggesting the existence of other mechanisms for BCC predisposition in NBCCS patients. As increasing evidence supports the idea that the stroma influences carcinoma development, we hypothesized that NBCCS fibroblasts could facilitate BCC occurence of the patients. WT (n = 3) and NBCCS fibroblasts bearing either nonsense (n = 3) or missense (n = 3) PTCH1 mutations were cultured in dermal equivalents made of a collagen matrix and their transcriptomes were compared by whole genome microarray analyses. Strikingly, NBCCS fibroblasts over-expressed mRNAs encoding pro-tumoral factors such as Matrix Metalloproteinases 1 and 3 and tenascin C. They also over-expressed mRNA of pro-proliferative diffusible factors such as fibroblast growth factor 7 and the stromal cell-derived factor 1 alpha, known for its expression in carcinoma associated fibroblasts. These data indicate that the PTCH1(+/-) genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients.
Project description:We describe the case of a young woman, from a consanguineous family, affected by adult Refsum disease (ARD, OMIM#266500). ARD is a rare peroxisomal autosomal recessive disease due to deficient alpha-oxidation of phytanic acid (PA), a branched-chain fatty acid. The accumulation of PA in organs is thought to be responsible for disease symptoms. The patient presented only bilateral shortening of metatarsals and has been treated with a low-PA diet. She is homoallelic for the c.135-2A > G mutation of PHYH, and she married her first cousin carrying the same mutation. She was pregnant seven times and had two homozygous girls. Due to a potential exacerbation of the disease during the third trimester of pregnancy, her weight and plasma PA levels were monitored. No specific events were noticed for the mother during the pregnancies and postpartum periods. This case also raised the question of potential exposure to PA (and its subsequent toxicity) of a homozygous fetus in a homozygous mother. Despite modestly elevated plasma concentrations of PA at birth (<30 μmol/L), the two affected girls did not present any specific sign of ARD and have so far developed normally. As only a few determinations of plasma PA levels in the mother could be performed during pregnancies, showing mild elevations (<350 μmol/L), it remains difficult to conclude as to a possible transplacental crossing of PA.
Project description:explore the transcriptome profiles of PBMCs derived from individuals with Primary antiphospholipid syndrome (PAPS) and compared<br>them with those of healthy individuals. Also compare the transcriptome profiles of the closely related Systemic lupus Erythematosus autoimmune disorder with the same profiles from healthy individuals
Project description:We identified KIF7, a major actor of Shh pathway as the responsible gene for a polymalformative syndrome in 3 siblings born from consanguinous parents.<br>In order to study the expression of Shh pathway actors and to identify deregulation in expression of targets of the pathway, we performed microarray expression analysis with RNA extracted from pulmonary tissues from three mutated fetuses and from three age-match controls