A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

Background: Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. Case presentation: A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. Conclusion: EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling.</p

Levelized Cost of Consumed Electricity

International audienceCurrent calculations to evaluate the profitability of the various energy generating units ignore intermittency as well as complementary technologies, such as battery storage and smart meters. Therefore, we propose a new assessment of the cost of solar energy that takes into account smart grids. In doing this, we use data from a low energy dwelling in South Wales UK as well as data from a high-rise apartment in Hong Kong, calibrate our model in this regard, and calculate a levelized cost of consumed electricity (LCOCE). Our proposed cost measure can be of use when determining the feasibility of smart systems, and accordingly, assist policymakers when deciding on the financial support for home renewable energy systems

A Two-Sector Model of Economic Growth with Endogenous Technical Change and Pollution Abatement

We provide insights into the relationships between technological development, economic growth, and pollution accumulation using a two-sector model of economic growth with endogenous technical change. In the model, output is produced using a polluting resource. Production can be used for either consumption or abatement of pollution. Scientists can be allocated between two research activities: resource-saving and abatement-augmenting technologies. Our results indicate conditional path dependency. Specifically, when the innovative capacity in the resource-saving research sector is sufficiently high, scientists are allocated to improve only the resource-saving technology, independently of the state of the technologies and environment. Consequently, the allocation of researchers is path-independent. When the innovative capacity in the abatement-augmenting research sector is sufficiently high, the optimal allocation of researchers depends on the initial level of the pollution stock or technologies but eventually will be directed to improve the abatement technology. We further characterize the optimal steady-state and off-steady-state dynamics and show that green growth is always socially optimal. By using a two-sector model, we address a lack of attention to multi-sector growth models in neoclassical growth theory and show that distinct results and transitional dynamics can emerge.</p

QT interval evaluation associated with the use of hydroxychloroquine with combined use of azithromycin among hospitalised children positive for coronavirus disease 2019

AbstractIntroduction and aim:Hydroxychloroquine alone or in combination with azithromycin has been increasingly used for patients with coronavirus disease 2019, in both children and adults. Drugs are generally well tolerated in clinical practice; however, both can cause corrected QT prolongation. We aimed to report our experience of QT interval evaluation associated with the use of hydroxychloroquine with concurrent azithromycin among children testing positive for coronavirus disease 2019.Methods:Our single-centre; retrospective, study evaluated children with coronavirus disease 2019 disease admitted to the Pediatric Department at Sancaktepe Training and Research Hospital Istanbul, Turkey from 10 March, 2020 to 10 April, 2020. The data including demographics, clinical symptoms, co-morbid diseases, laboratory, radiological findings as well as electrocardiographs of the patients were obtained from our records. Electrocardiograms were evaluated before, one day after and at the termination of the treatment.Results:21 patients aged 9 to 18 years were evaluated. The median age was 170 months (range 112–214), 51.1% of them were girls and 48.9% were boys. Their laboratory results did not reveal any abnormalities. None of them needed intensive care. We did not detect QT prolongation during or at the termination of the treatment.Conclusion:We did not detect QT prolongation during or at the termination of the treatment in our patients due to the fact that they were not severely affected by the disease. Patients were treated in our inpatient clinic and none of them required intensive care. Laboratory results were also insignificant. Furthermore, they did not need other medications.</jats:sec

A facile approach for the fabrication of antibacterial nanocomposites: A case study for AgNWs/Poly(1,4-Cyclohexanedimethylene Acetylene Dicarboxylate) composite networks by aza-Michael addition

Nanotechnological improvements allow the production of new generation materials among which nanocomposite-based polymers are increasingly applied for wide variety of applications due to the demand increment of improving life quality of mankind. This article describes a simple, facile and fast route which could be adopted for the synthesis of metal nanocomposite materials with a variety of polymers. In this purpose, the cysteamine compound containing an amine (NH2) and a thiol (-SH) functional groups was incorporated onto silver nanowires (NH2-AgNWs). Next, poly(1,4-Cyclohexanedimethylene Acetylene Dicarboxylate) (PCA) possessing electron deficient internal alkyne moiety is synthesized starting from acetylene dicarboxylic acid (ADCA). Finally, one-pot aza-Michael addition is then realized between prepared NH2-AgNWs and synthesized PCA to achieve a series of cross-linked antibacterial nanocomposite networks (PCA:NH2-AgNWs = 1; 5; 10 wt%). The nanocomposites and intermediates are fully characterized by Fourier transform infrared and proton nuclear magnetic resonance (FT-IR, 1H NMR) spectroscopies, gel permeation chromatography (GPC) scanning electron microscopy (SEM), Energy-dispersive X-ray spectroscopy (EDS), thermogravimetric and differential scanning calorimetry analyses (TGA and DSC) and antibacterial test. The results reveal that the higher content of AgNWs in the network has occasioned the enhancement in thermostability and glass transition temperature. The antibacterial efficacy tests against Escherichia coli (E. coli, G) and Staphylococcus aureus (S.aureus, G +) further indicate that higher rate of inhibition is attained for nanocomposite network including 10 wt% AgNWs compared to others and pristine PCA. Consequently, a polyester based AgNWs/PCA nanocomposite with antibacterial activity has been considered as a versatile candidate for various promising nanocomposite applications

A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

Abstract Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. Case presentation A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. Conclusion EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling. </jats:sec