Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Manufacture Techniques of Chitosan-Based Microcapsules to Enhance Functional Properties of Textiles

In recent years, the textile industry has been moving to novel concepts of products, which could deliver to the user, improved performances. Such smart textiles have been proven to have the potential to integrate within a commodity garment advanced feature and functional properties of different kinds. Among those functionalities, considerable interest has been played in functionalizing commodity garments in order to make them positively interact with the human body and therefore being beneficial to the user health. This kind of functionalization generally exploits biopolymers, a class of materials that possess peculiar properties such as biocompatibility and biodegradability that make them suitable for bio-functional textile production. In the context of biopolymer chitosan has been proved to be an excellent potential candidate for this kind of application given its abundant availability and its chemical properties that it positively interacts with biological tissue. Notwithstanding the high potential of chitosan-based technologies in the textile sectors, several issues limit the large-scale production of such innovative garments. In facts the morphologies of chitosan structures should be optimized in order to make them better exploit the biological activity; moreover a suitable process for the application of chitosan structures to the textile must be designed. The application process should indeed not only allow an effective and durable fixation of chitosan to textile but also comply with environmental rules concerning pollution emission and utilization of harmful substances. This chapter reviews the use of microencapsulation technique as an approach to effectively apply chitosan to the textile material while overcoming the significant limitations of finishing processes. The assembly of chitosan macromolecules into microcapsules was proved to boost the biological properties of the polymer thanks to a considerable increase in the surface area available for interactions with the living tissues. Moreover, the incorporation of different active substances into chitosan shells allows the design of multifunctional materials that effectively combine core and shell properties. Based on the kind of substances to be incorporated, several encapsulation processes have been developed. The literature evidences how the proper choices concerning encapsulation technology, chemical formulations, and process parameter allow tuning the properties and the performances of the obtained microcapsules. Furthermore, the microcapsules based finishing process have been reviewed evidencing how the microcapsules morphology can positively interact with textile substrate allowing an improvement in the durability of the treatment. The application of the chitosan shelled microcapsules was proved to be capable of imparting different functionalities to textile substrates opening possibilities for a new generation of garments with improved performances and with the potential of protecting the user from multiple harms. Lastly, a continuous interest was observed in improving the process and formulation design in order to avoid the usage of toxic substances, therefore, complying with an environmentally friendly approach

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS

Secondary Malignant Neoplasms After Childhood Cancer

Overall survival from cancer has greatly improved, although it still remains the second leading cause of mortality in the world. This result was achieved through the use of chemotherapy and radiotherapy, which are severely toxic to normal tissues. In the long-term follow-up of cancer patients, the development of secondary malignant disease is common and it is one of the most severe side effects of cancer treatment. Physicians aim to decrease this toxicity and reduce the development of secondary cancers. In this study, the epidemiology and etiology of second malignant neoplasms are reviewed

Morning Glory Syndrome and Autism: A Case Report

Autism is a developmental neuropsychiatric disorder that starts in early years of life, lasts lifelong, and characterized by the triad of impaired social skills, delayed speech, and repetitive or unusual behaviours. Morning glory syndrome (MGS) is a congenital anomaly of the optic disc, first described in 1970 and named by Kindler due to a resemblance to the flower of the same name. Congenital anomalies are more common in autistics compared to normal population. Among all types of congenital anomalies, the frequency of autism is higher with brain and/or eye anomalies. In this paper, we reported a 2-year-old female, who was diagnosed to have morning glory syndrome when she was 14-months old and admitted to our clinic because of delayed speech and lack of communication. Although congenital eye anomalies and autism comorbidity is high, there is only one case diagnosed to have MGS with autism reported in the literature. We aimed to report this case because of the difference in visual impairment than previous case and to impress on the relationship between MGS and autism, which stems from the early development phase of embryological life, when there is increased sensitivity for genetic and environmental factors

A novel honey badger algorithm based load frequency controller design of a two-area system with renewable energy sources

When it comes to the process of ensuring the stability, quality, and reliability of a power system, one of the most crucial components is known as the load frequency controller (LFC). It does this by ensuring that there is a balance between the amount of power that is produced and the amount that is consumed. This paper proposes a novel evolutionary approach, referred to as the Honey Badger Algorithm (HBA), PI/PID controllers should be configured in the best possible way in order to address the LFC problem in the electrical power system. The research takes into account a power system that is integrated between two areas and uses renewable energy sources, such as a wind system and a solar system. The utilization of renewable energy sources has the potential to yield favorable outcomes in frequency control through the provision of prompt and adaptable responses to fluctuations in system frequency, helping to maintain grid stability. The proposed HBA method is utilized to refine the controller parameter values, using a fitness function anchored on the integral of absolute error (IAE) and the integral time multiplied by absolute error (ITAE). The performance of the proposed HBA-based controller has evaluated under 5% step load perturbation (SLP) in area-1. The HBA-based controllers demonstrate greater performance in terms of settling time, overshoot, and fitness value when compared to other well-known optimization algorithms such as Particle Swarm Optimization (PSO), Whale Optimization Algorithm (WOA), and Grey Wolf Optimization (GWO). According to the obtained results, the IAE-based PID controller has the best performance. The HBA-based PID controller is evaluated according to the following performance criteria; the objective function value is 0.4201, the settling time values and overshoot values for the area-1, area-2 and tie-line are 15.6, 33.7 and 27.9 s and −6.6, −0.7 and −0.0071 Hz, respectively. According to the findings, the HBA is both a dependable and effective tool for finding solutions to LFC research problems in multi-source power systems

Recombinant Human Erythropoietin Treatment for Chemotherapy-Related Anemia in Children

Objective. The efficacy and safety of recombinant human erythropoietin (rHuEPO) treatment in chemotherapy-induced anemia in children were investigated, rHuEPO is used to treat chemotherapy-induced anemia. Several studies recommend 150 to 300 IU/kg rHuEPO for 2 to 8 months. There are only a few controlled trials in children and no precise data about the optimal dose and duration of rHuEPO treatment is available. Patients and Methods. Thirty-four patients receiving chemotherapy for treatment of their solid tumors between October 1996 and June 1997 were included in this study. Patients were randomly selected for each group. The male/female ratio was 20/14, and the median age was 5 years (range, 1-16 years). They had normal hemoglobin levels at the time of diagnosis. When hemoglobin levels decreased to levels lower than 10 g/dL, rHuEPO (150 IU/kg/d, 3 times a week, subcutaneously) was given to 17 patients for 2 months. Their renal, liver, and pulmonary functions were normal. None of the patients had hematologic disease. We did not use any other drugs such as iron or granulocyte colony-stimulating factor. There were 17 patients in the control group. Fifteen patients got chemotherapy regimens including cisplatin (CDDP), but 19 were treated with regimens without CDDP. At the end of rHuEPO treatment, all patients were examined in terms of transfusion requirements and rate of change in hemoglobin levels. Results. One patient in the study group needed a blood transfusion, whereas 8 patients needed a transfusion in the control group. Patients in the study group had less transfusion requirements compared with the control group. The mean hemoglobin levels before and after the study were 8.48 +/- 0.98 g/dL and 8.41 +/- 1.65 g/dL in the control group and 8.50 +/- 0.85 g/dL and 10.21 +/- 2.14 g/dL in the rHuEPO group, respectively. Optimal hemoglobin increments began in 4 weeks and continued during treatment. CDDP-receiving and CDDP-nonreceiving groups did not have any difference in pretreatment serum erythropoietin levels. rHuEPO treatment was more effective in patients treated with non-CDDP regimens. Mean hemoglobin level increased from 8.68 +/- 0.73 g/dL to 10.26 +/- 1.84 g/dL in 9 patients treated with non-CDDP chemotherapy regimens in the erythropoietin group, although it increased from 8.28 +/- 0.97 g/dL to 10.15 +/- 2.5 g/dL in 8 patients treated with CDDP-containing regimens in the erythropoietin group. rHuEPO caused high blood pressure in only 1 patient that resolved spontaneously after cessation of erythropoietin treatment for a week. Conclusion. rHuEPO treatment (150 IU/kg/d 3 times a week) is effective and safe in children with chemotherapy-induced anemia. It decreases blood transfusion requirements in solid tumor patients. Our results show that the response to rHuEPO in CDDP-induced anemia is less than the response in non-CDDP receiving patients. Higher doses may be necessary in patients using CDDP.Wo