Sarcoidosis with heart involvement: a rare association of terrible prognosis, a report of two cases

Sarcoidosis is a multisystemic disorder of unknown etiology which is characterized by the formation of  non-caseating granulomas in involved tissues. Cardiac involvement is one of the least common manifestations and it can occur at any point of time during the course of sarcoidosis. Here we present the case of 2 patients with known sarcoidosis who develop cardiac abnormalities in the absence of known primary cardiac cause. In our report, we would like to draw attention to the importance of considering heart involvement in any case with systemic sarcoidosis especially in young age.Key words: Cardiac sarcoidosis, Sarcoidosis, Ventricular arrhythmia

Dermatomyosite et panniculite: place des immunoglobulines

La panniculite est une maladie inflammatoire du tissu adipeux sous-cutané rarement associée à la dermatomyosite. Elle peut survenir avant, après ou en même temps que l'atteinte musculaire. Dans la plupart des cas, l'évolution de la panniculite et des autres atteintes de la dermatomyosite est favorable sous traitement corticoïde et/ou immunosuppresseur. Nous rapportons le cas d'une patiente âgée de 48 ans ayant présenté des lésions de panniculite précédant de 2 mois les signes musculaires. L'atteinte cutanée était résistante au traitement corticoïde associés aux immunosuppresseurs ce qui a nécessité le recours au traitement par Immunoglobulines polyvalentes permettant ainsi une amélioration à la fois de l'atteinte cutanée et musculaire.Pan African Medical Journal 2016; 2

4-Ammonio-2,2,6,6-tetra­methyl­piperidinium bis­(dihydrogen phosphate) monohydrate

In the crystal structure of the title compound, C9H22N2 2+·2H2PO4 −·H2O, the H2PO4 − anions are hydrogen bonded to each other, forming a ribbon parallel to the b axis. The water mol­ecules connect these ribbons via O—H⋯O hydrogen bonds. The organic cations are attached to the dihydrogen phosphate anions and water mol­ecules through N—H⋯O and C—H⋯O hydrogen bonds, forming an infinite three-dimensional network

Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity

Abstract Admixture mapping has been useful in identifying genetic variations linked to phenotypes, adaptation and diseases. Copy number variations (CNVs) represents genomic structural variants spanning large regions of chromosomes reaching several megabases. In this investigation, the “Canary” algorithm was applied to 102 Tunisian samples and 991 individuals from eleven HapMap III populations to genotype 1279 copy number polymorphisms (CNPs). In this present work, we investigate the Tunisian population structure using the CNP makers previously identified among Tunisian. The study revealed that Sub-Saharan African populations exhibited the highest diversity with the highest proportions of allelic CNPs. Among all the African populations, Tunisia showed the least diversity. Individual ancestry proportions computed using STRUCTURE analysis revealed a major European component among Tunisians with lesser contribution from Sub-Saharan Africa and Asia. Population structure analysis indicated the genetic proximity with Europeans and noticeable distance from the Sub-Saharan African and East Asian clusters. Seven genes harbouring Tunisian high-frequent CNPs were identified known to be associated with 9 Mendelian diseases and/or phenotypes. Functional annotation of genes under selection highlighted a noteworthy enrichment of biological processes to receptor pathway and activity as well as glutathione metabolism. Additionally, pathways of potential concern for health such as drug metabolism, infectious diseases and cancers exhibited significant enrichment. The distinctive genetic makeup of the Tunisians might have been influenced by various factors including natural selection and genetic drift, resulting in the development of distinct genetic variations playing roles in specific biological processes. Our research provides a justification for focusing on the exclusive genome organization of this population and uncovers previously overlooked elements of the genome

Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations

<div><p>Genetic variation is an important determinant affecting either drug response or susceptibility to adverse drug reactions. Several studies have highlighted the importance of ethnicity in influencing drug response variability that should be considered during drug development. Our objective is to characterize the genetic variability of some pharmacogenes involved in the response to drugs used for the treatment of Metabolic Syndrome (MetS) in Tunisia and to compare our results to the worldwide populations. A set of 135 Tunisians was genotyped using the Affymetrix Chip 6.0 genotyping array. Variants located in 24 Very Important Pharmacogenes (VIP) involved in MetS drug response were extracted from the genotyping data. Analysis of variant distribution in Tunisian population compared to 20 worldwide populations publicly available was performed using R software packages. Common variants between Tunisians and the 20 investigated populations were extracted from genotyping data. Multidimensional screening showed that Tunisian population is clustered with North African and European populations. The greatest divergence was observed with the African and Asian population. In addition, we performed Inter-ethnic comparison based on the genotype frequencies of five VIP biomarkers. The genotype frequencies of the biomarkers rs3846662, rs1045642, rs7294 and rs12255372 located respectively in <i>HMGCR</i>, <i>ABCB1</i>, <i>VKORC1 and TCF7L2</i> are similar between Tunisian, Tuscan (TSI) and European (CEU). The genotype frequency of the variant rs776746 located in <i>CYP3A5</i> gene is similar between Tunisian and African populations and different from CEU and TSI. The present study shows that the genetic make up of the Tunisian population is relatively complex in regard to pharmacogenes and reflects previous historical events. It is important to consider this ethnic difference in drug prescription in order to optimize drug response to avoid serious adverse drug reactions. Taking into account similarities with other neighboring populations, our study has an impact not only on the Tunisian population but also on North African population which are underrepresented in pharmacogenomic studies.</p></div

STRUCTURE analysis of the genetic relationship between 24 populations.

<p>K is the possible numbers of parental population clusters. One color represents one parental population into different color segments. Best K level was observed at K = 3, where a vertical the proportion of each ancestral component in a single individual is represented by a vertical bar divided into 3 colors. 601 markers study—displaying results for runs with highest likelihood out of 27 runs in each cluster K3 to 10. Black vertical lines identify the population boundaries. The height extent of each color within an individual’s color bar corresponds to the estimated membership of the individual in one of the clusters; each cluster is assigned a separate <b>color</b>. The bars with multiple colors can be interpreted as genetic admixture or as relative probabilities of belonging to the different clusters.</p

Multidimensional scaling plot analysis of the Tunisian subpopulation and worldwide populations.

<p>The plot reveals three distinct clusters showing that the Tunisian population present a close affinity with the North Africans and Europeans and distinct from South Africans and Asians. Tunisian population; Capital Tunis TU_TC, coastal city of Monastir TU_MC (AffymetrixChip 6.0 genotyping array), African ancestry in the south Western USA (ASW); a northwestern European population (CEU); the Han Chinese in Beijing, China (CHB); a Chinese population of metropolitan Denver, Colorado, USA (CHD); the Gujarati Indians in Houston, Texas, USA (GIH); the Japanese population in Tokyo, Japan (JPT); the Luhya people in Webuye, Kenya (LWK); people of Mexican ancestry living in Los Angeles, California, USA (MEX); the Maasai people in Kinyawa, Kenya (MKK); the Tuscan people of Italy (TSI); and the Yoruba in Ibadan, Nigeria (YRI); data from HapMap were retrived in March 2016. It is available by FTP: <a target="_blank">ftp://ftp.ncbi.nlm.nih.gov/hapmap/</a> and Algeria (ALG), Egyptia (EGY), Libya (LIB), Tunisia Dwiret TUN_Ber, Lebanon (LIB), Morocco South (MCS), Morocco North (MCN), Spain South (SPS), Spain North (SPN), Spain Basc (SBA),: Sub-Saharan (SAH), Canary Island (CIS); data from the literature [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0194842#pone.0194842.ref034" target="_blank">34</a>, <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0194842#pone.0194842.ref035" target="_blank">35</a>].</p

Estimating of pairwise Fst among the 11 populations.

<p>Estimating of pairwise Fst among the 11 populations.</p

Genotype frequency of significant VIP variants in Tunisian population (n = 135) compared with ten HapMap populations.

<p>Genotype frequency of significant VIP variants in Tunisian population (n = 135) compared with ten HapMap populations.</p