Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report

Background: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognition of the complete trisomy 22 which is incompatible with life from the mosaic form is critical for genetic counseling. Affected mosaic cases have prevalent clinical presentations such as webbed neck, developmental delay, abnormal ears, cardiac disorders, and microcephaly. Phenotype of these patients is milder than full chromosomal aneuploidy, and the severity of the phenotype depends on the count of trisomic cells. We describe a 4-year-old boy with mosaic trisomy 22 from healthy parents and no family history of any genetic disorders in the pedigree. Method and Results: The patient had determined dysmorphic clinical features including facial asymmetry, cleft palate, gastroenteritis, hydronephrosis, developmental delay, genital anomalies, dysplastic toenails, flattened nasal bridge, congenital heart defect, hearing loss, cryptorchidism, and hypotonic muscle. He is the first reported with hypothyroidism and larynx wall thickness in worldwide and the first with atrial septal defect (ASD) from Iran. Chromosomal analyses using G-banding indicated a de novo Mos 47,XY,+22(6)/46,XY(44) karyotype with no other chromosomal structural changes. Conclusions: Our observations confirm the importance of cytogenetic analyses for determining the cause of congenital anomalies and provide a useful genetic counseling. In addition, due to the fact that some of mosaic trisomy 22 features are unavoidable such as CHD and general hypotrophy, we suggest including echocardiography test for early diagnosis during the clinical assessment. © 2018 Wiley Periodicals, Inc

Hyalomma anatolicum as the main infesting tick in an important livestock rearing region, central area of iran

Background: This study was carried out to determine the infestation of domestic ruminants to ticks in an important livestock-rearing region, located in central part of Iran. Methods: Ticks were collected from cattle, sheep, and goats and then were identified with appropriate identification keys to species level in two different ecological regions of plains and mountain in 4 seasons in 2015. Results: Totally 492 ticks from cattle, sheep, and goats in 34 herds were collected. Totally, 18.53 of domestic animals were infected by ticks. All ticks were belonged to family Ixodidae and classified into three genera and six species comprising Hyalomma anatolicum (38.83), Hy. Asiaticum (23.37), Hy. marginatum (2.85), Hy. sp. (3.45), Rhipicephalus sanguineus (14.02) and Haemaphysalis sulcata (10.98). Sex ratio of the collected specimens showed 241 (48.99) male, 219 (44.51) female and 32 (6.5) nymph Conclusion: Studied area is important for production of livestock and dairy products. Annually, many livestock products are exported to other parts from this region; therefore, it is very important to identify the infection rate of tick-borne diseases as well as safety factors on livestock. © 2018, Iranian Journal of Public Health. All rights reserved

First line in psychiatric emergency: Pre-hospital emergency protocol for mental disorders in Iran

Introduction: This article is a report of designing a rapid and effective guide for paramedics who take care of patients in a pre-hospital setting to answer developing demands. Methods: The relevant literature was reviewed, and the topics were extracted. Then, the extracted items were discussed in an expert panel. Finally, items were discussed in a meeting including emergency technicians and emergency technical assistants to identify implementation problems. Results: Important topics for managing psychiatric patients were categorized at three levels: 1) Patient safety and security issues, 2) Patient status assessment and diagnosis, and 3) Patient management (medical, behavioral management, and referral to a treatment center). Discussion: This protocol can be a solution to improve emergency technician training. Such summarized protocols can be used for rapid review immediately before exposing a patient with an acute psychiatric condition. Due to specific cultural and different access to medicines in Iran, some issues are different. © 2020 The Author(s)

Hyalomma anatolicum as the main infesting tick in an important livestock rearing region, central area of iran

Background: This study was carried out to determine the infestation of domestic ruminants to ticks in an important livestock-rearing region, located in central part of Iran. Methods: Ticks were collected from cattle, sheep, and goats and then were identified with appropriate identification keys to species level in two different ecological regions of plains and mountain in 4 seasons in 2015. Results: Totally 492 ticks from cattle, sheep, and goats in 34 herds were collected. Totally, 18.53 of domestic animals were infected by ticks. All ticks were belonged to family Ixodidae and classified into three genera and six species comprising Hyalomma anatolicum (38.83), Hy. Asiaticum (23.37), Hy. marginatum (2.85), Hy. sp. (3.45), Rhipicephalus sanguineus (14.02) and Haemaphysalis sulcata (10.98). Sex ratio of the collected specimens showed 241 (48.99) male, 219 (44.51) female and 32 (6.5) nymph Conclusion: Studied area is important for production of livestock and dairy products. Annually, many livestock products are exported to other parts from this region; therefore, it is very important to identify the infection rate of tick-borne diseases as well as safety factors on livestock. © 2018, Iranian Journal of Public Health. All rights reserved

Microenvironmental Modulation of Decorin and Lumican in Temozolomide-Resistant Glioblastoma and Neuroblastoma Cancer Stem-Like Cells

The presence of cancer stem cells (CSCs) or tumor-initiating cells can lead to cancer recurrence in a permissive cell–microenvironment interplay, promoting invasion in glioblastoma (GBM) and neuroblastoma (NB). Extracellular matrix (ECM) small leucine-rich proteoglycans (SLRPs) play multiple roles in tissue homeostasis by remodeling the extracellular matrix (ECM) components and modulating intracellular signaling pathways. Due to their pan-inhibitory properties against receptor tyrosine kinases (RTKs), SLRPs are reported to exert anticancer effects in vitro and in vivo. However, their roles seem to be tissue-specific and they are also involved in cancer cell migration and drug resistance, paving the way to complex different scenarios. The aim of this study was to determine whether the SLRPs decorin (DCN) and lumican (LUM) are recruited in cell plasticity and microenvironmental adaptation of differentiated cancer cells induced towards stem-like phenotype. Floating neurospheres were generated by applying CSC enrichment medium (neural stem cell serum-free medium, NSC SFM) to the established SF-268 and SK-N-SH cancer cell lines, cellular models of GBM and NB, respectively. In both models, the time-dependent synergistic activation of DCN and LUM was observed. The highest DCN and LUM mRNA/protein expression was detected after cell exposure to NSC SFM for 8/12 days, considering these cells as SLRP-expressing (SLRP+) CSC-like. Ultrastructural imaging showed the cellular heterogeneity of both the GBM and NB neurospheres and identified the inner living cells. Parental cell lines of both GBM and NB grew only in soft agar + NSC SFM, whereas the secondary neurospheres (originated from SLRP+ t8 CSC-like) showed lower proliferation rates than primary neurospheres. Interestingly, the SLRP+ CSC-like from the GBM and NB neurospheres were resistant to temozolomide (TMZ) at concentrations >750 μM. Our results suggest that GBM and NB CSC-like promote the activation of huge quantities of SLRP in response to CSC enrichment, simultaneously acquiring TMZ resistance, cellular heterogeneity, and a quiescent phenotype, suggesting a novel pivotal role for SLRP in drug resistance and cell plasticity of CSC-like, allowing cell survival and ECM/niche modulation potential.This study was supported by Fundació la Marató TV3, Project n° 111431

Effects of plasma turbulence on the nonlinear evolution of magnetic island in tokamak

Magnetic islands (MIs), resulting from a magnetic field reconnection, are ubiquitous structures in magnetized plasmas. In tokamak plasmas, recent researches suggested that the interaction between an MI and ambient turbulence can be important for the nonlinear MI evolution, but a lack of detailed experimental observations and analyses has prevented further understanding. Here, we provide comprehensive observations such as turbulence spreading into an MI and turbulence enhancement at the reconnection site, elucidating intricate effects of plasma turbulence on the nonlinear MI evolution