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Abstract This paper introduces a dual‐input single‐output (DISO) non‐isolated DC–DC converter with the capability to accommodate multiple input ports. It supports both bidirectional and unidirectional power flows. The proposed converter employs the switched‐capacitors (SC) technique, resulting in a high‐ voltage transfer gain. Although the use of the SC technique leads to discontinuous input current, this issue has been addressed by incorporating an inductor at the input side. The DISO high‐voltage gain converter offers flexible control options, reduces current and voltage stress on semiconductors, and imposes no duty cycle limitations due to the proposed switching methods. Furthermore, when Port 2 fails, the proposed converter can transfer energy to the load by sources in Port 1 without interruption. The steady‐state model and small‐signal analysis (SSA) of the proposed converter are examined at continuous conduction mode (CCM). To evaluate accurately, the proposed converter is compared with the recently presented converters based on important characteristics. Additionally, a comprehensive power loss analysis is performed. Following the design specifications, an evaluation and testing of a prototype are conducted to verify the feasibility and performance of the converter.

Key Clinical Message Congenital myasthenic syndromes‐5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the COLQ that lead to skeletal muscle weakness and abnormal fatigability. The onset is usually from birth to childhood. Disease‐causing variants in the collagen‐like tail subunit are the most explained etiology in synaptic CMS, causing defected acetylcholinesterase. In this study whole‐exome sequencing (WES) was performed in an affected boy with muscle weakness, ophthalmoplegia, and bilateral ptosis and gene expression assay by qRT‐PCR was performed in entire family. A homozygous nonsense variant in the COLQ [NM_005677.4:c.679C>T], (p.Arg227Ter) was identified in the proband. Segregation analysis by Sanger sequencing confirmed the homozygous state in the proband and heterozygous state in his parents and four of the siblings. The mRNA expression level in the proband was 0.02 of a healthy person, and in the carriers were 0.42 of a healthy person. This study presents an Iranian family with two affected children and eight symptomatic carriers with attenuated mRNA expression. This study provides evidence that carriers of the COLQ disease‐causing variants could become symptomatic with some yet unknown pathogenesis mechanism and underscore the importance of further investigations to elucidate this mechanism.

Abstract Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosynostosis, radioulnar synostosis, genital and vesicorenal anomalies, cardiac anomalies, caudal appendage, and umbilical hernia. Methods In the present study, whole‐exome sequencing was performed in order to identify disease causing variant in an Iranian 7‐year‐old affected girl with craniosynostosis, dolichocephaly, blepharoptosis, clinodactyly of the 5th finger, high myopia, long face, micrognathia, patent ductus arteriosus, downslanted palpebral fissures, telecanthus, and epicanthus inversus. Identified variant confirmation in the patient and segregation analysis in her family were performed using Sanger sequencing method. Results A novel homozygous frameshift deletion variant [NM_006438.5: c.128_129delCA; p.(Thr43AsnfsTer9)] was identified within the COLEC10 gene. Up to now, only three 3MC syndrome patients with mutations in the COLEC10 gene have been reported, and here, we report the fourth patient and the first homozygous frameshift variant. Conclusion Other genes and factors responsible for 3MC syndrome occurrence are remained to be discovered. We believe further investigation of the genes in the lectin complement pathway is needed to be done for the identification of other causes of this disease.

Wound healing has long been recognised as a major clinical challenge for which stablishing more effective wound therapies is necessary. The generation of metallic nanocomposites using biological compounds is emerging as a new promising strategy for this purpose. In this study, four metallic nanoparticles (NPs) with propolis extract (Ext) and one without propolis including ZnO/Ext, ZnO/Ag/Ext, ZnO/CuO/Ext, ZnO/Ag/CuO/Ext and ZnO/W were prepared by microwave method and assessed for their wound healing activity on excision experimental model of wounds in rats. The developed nanocomposites have been characterised by physico-chemical methods such as X-ray diffraction, scanning electron microscopy, diffuse reflectance UV-vis spectroscopy, Fourier transform infrared spectroscopy, thermogravimetric analysis and Brunauer-Emmett-Teller analyses. The wounded animals treated with the NPs/Ext in five groups for 18 days. Every 6 days, for measuring wound closure rate, three samples of each group were examined for histopathological analysis. The prepared tissue sections were investigated by haematoxylin and Eosin stainings for the formation of epidermis, dermis and muscular and Masson's trichrome staining for the formation of collagen fibres. These findings toughly support the probability of using this new ZnO/Ag/Ext materials dressing for a wound care performance with significant effect compared to other NPs.