Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus

Background: Immunodeficiency, Centromeric region instability, and Facial anomalies syndrome (ICF) is a rare autosomal recessive disorder with Centromeric instability as a hallmark. Method: In this case report, we describe an Iranian 6-year-old male who was diagnosed with ICF syndrome. He had a history of recurrent infections, hydrocephalus report in pregnancy, failure to thrive, facial anomalies, global developmental delay, and umbilical hernia. Results: The investigation showed esophageal dilatation in barium swallow, ascending aortic dilatation in echocardiography and cutis laxa in skin biopsy. In laboratory data, impaired antibody function was observed. Finally, to find the probable causative genetic variant, a whole exome sequencing was performed. The data analysis using bioinformatics tools revealed c.1592G>A mutation in the exon 15 of DNMT3B. With respect to the diagnosis of ICF syndrome, our patient was treated with intravenous immunoglobulin (IVIG). Conclusion: It is necessary to perform periodic neurologic and ophthalmologic examinations. Echocardiography must be done annually. In addition, the possibility of HSCT should be evaluate

Shi‘ite Higher Learning and the Role of the Madrasa-yi Sulṭānī in Late Safavid Iran

This dissertation explores the ways in which religious knowledge was produced and transmitted in Safavid madrasas, particularly in Isfahan, during the later Safavid period—from the reign of Shāh Abbās II (1642–66) to the end of Shāh Sulṭān Ḥusayn’s reign (1694–1722). It argues that Safavid madrasas functioned as multifaceted cultural centres that disseminated religious knowledge, preserved the Shi‘ite intellectual heritage, and played an important role in reconstructing, re-articulating, and contextualizing or contemporizing the past. Safavid madrasas, which were established thanks largely to the largesse and piety of the Safavid shahs, very often acted on behalf of the established political power. However, due to the flexible, inclusive, and personal character of Islamic pedagogy, Shi‘ite learning, like that of the wider Muslim community, could occur in a wide variety of places, from the houses of scholars to any mosque or shrine. After surveying Shi‘ite scholarship and its institutions from the early decades of Islamic history until the mid-seventeenth century, this study contextualizes the Madrasa-yi Sulṭānī, or Royal Madrasa, of late Safavid Isfahan within its political, social, and religious setting. This particular madrasa exemplifies the ways in which religious knowledge was transmitted in early modern Iran. By analyzing the deeds of endowment (waqfiyyas) of the Madrasa-yi Sulṭānī and other madrasa-mosque institutions built by Shāh Sulṭān Ḥusayn and members of the Safavid elite, this study sheds light on the organizing mechanisms and structures for such educational and charitable foundations. Based on the large number of extant ijāzas that were issued by Safavid scholars, and other primary sources, including waqfiyyas and autobiographies, this study reconstructs the curriculum of the Safavid madrasa and describes the pedagogical methods that Safavid scholars employed to transmit religious knowledge to their students. It also discusses the major problems facing Shi‘ite higher learning by examining the critiques of such scholars as Mullā Ṣadrā (d. 1635 or 1640), the Safavid philosopher, Muḥsin-i Fayḍ Kāshānī (d. 1679), a renowned traditionalist, and Muḥammad Bāqir Khurāsānī, known as Muḥaqqiq-i Sabzawārī (d. 1679), the Shaykh al-Islam of Isfahan and a prominent mujtahid. Finally it examines the life and career of Sayyid Mīr Muḥammad Bāqir Khātūnābādī (d. 1715), the first Safavid mullā-bāshī (head of religious scholars) and the first rector and professor of the Madrasa-yi Sulṭānī.Ph

The paleozoic Jalal Abad mafic complex (Central Iran): Implication for the petrogenesis

The Jalal Abad magmatic rocks are located at the southeastern edge of the Kashmar-Kerman tectonic zone, which includes Cadomian magmatic rocks and sedimentary strata intruded by several Silurian alkaline plutons and associated dikes. They have typical alkaline kaersutite and alkaline to per-alkaline pyroxene and are characterized geochemically by enrichment in LREE, Nb and Ta, and high concentrations of incompatible trace elements, demonstrating alkaline features with typical ocean island basalt signatures. Chondrite-normalized REE and multi-element spider diagrams along with High 206Pb/204Pb ratios (18.46–19.83) for the Jalal Abad gabbro, diorite, and dibasic dikes indicate involvement of an OIB-like source during the formation of these rocks. Modeling of bulk–rock trace elements and Sr–Nd isotopes suggest that magmas were generated by a pair of HIMU-EM1- like mantle source, consistent with a plume mantle origin in a within-plate rift zone. The melting took place in garnet stability field and the fractional crystallization played a major role in magmatic evolution of the mantle-derived parental magma. The Jalal Abad mafic rocks have U–Pb zircon ages of 425.5 ± 8.6 Ma and along with other Ordovician to Silurian rocks in different parts of the Iranian plate are related to the extensional tectonic regime responsible for the rifting of Cadomian fragments from northern Gondwana and the opening of Paleo-Tethys. Our findings indicate that the rifting and seafloor spreading of Paleo-Tethys and the formation of its oceanic crust were intensely influenced by a mantle plume activity in the early Paleozoic

Ghrelin and ghrelin/total cholesterol ratio as independent predictors for coronary artery disease: a systematic review and meta-analysis

Download PDFPDF Review Ghrelin and ghrelin/total cholesterol ratio as independent predictors for coronary artery disease: a systematic review and meta-analysis http://orcid.org/0000-0001-7611-7799Maryam Niknam1, Taraneh Liaghat2, Mehrdad Zarghami3, Mehdi Akrami2, Seyed Mehdi Shahnematollahi2, Ahmad Ahmadipour4, Fatemeh Moazzen5, http://orcid.org/0000-0002-3628-9438Sahar Soltanabadi2 Correspondence to Dr Sahar Soltanabadi, Cardiovascular Research Center, Shiraz University of Medical Sciences, Shiraz 7175735865, Iran (the Islamic Republic of); [email protected] Abstract The present meta-analysis aimed to summarize the available data regarding the circulating levels of ghrelin in patients with cardiovascular diseases (CVDs). A comprehensive search was performed in electronic databases including PubMed, Scopus, EMBASE, and Web of Science up to January 20, 2021. Since the circulating levels of ghrelin were measured in different units across the included studies, they were expressed as the standardized mean difference (SMD) and 95% CI (summary effect size). A random-effects model comprising the DerSimonian and Laird method was used to pool SMDs. Sixteen articles (20 studies) comprised of 1087 cases and 437 controls were included. The pooled results showed that there were no significant differences between cases and controls in terms of ghrelin levels (SMD=−0.61, 95% CI −1.38 to 0.16; p=0.120; I2=96.9%, p<0.001). The ghrelin concentrations in the CAD stratum were significantly lower than in controls, whereas they increased in other disease strata. New combined biomarkers demonstrated a significant decrease in the SMD of the ghrelin/total cholesterol (TC) ratio (−1.02; 95% CI −1.74 to –0.29, p=0.000; I2=94.5%). However, no significant differences were found in the SMD of the ghrelin/high-density lipoprotein cholesterol ratio, ghrelin/low-density lipoprotein cholesterol ratio, and ghrelin/triglyceride (TG) ratio in cases with CVDs compared with the control group. Ghrelin was associated with CAD; therefore, it may be considered a biomarker for distinguishing between patients with and without CAD. Furthermore, the ghrelin/TC ratio could be proposed as a diagnostic marker for CVD