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LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy, and non-specific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in eleven families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified twelve distinct homozygous loss-of-function variants in sixteen individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor (“ear-of-the-lynx” sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain, and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the “ear of the lynx” sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction.

This work presents two 4-bit resistor-string digital-to-analog converters (R-DAC) designed in 22nm FDSOI technology. Both DACs are connected to a shared resistor string to make the final layout more compact. The small on-resistance of the Transmission-Gate (TG) switches designed in the FDSOI node yields a low Internal non-linearity (INL) and Differential non-linearity (DNL) in the DACs output. The effect of the temperature variations on the linearity performance of the DACs is also studied. It is shown that the temperature gradients can be compensated for by equally distributing the switches on the layout area. Post-layout simulations show an approximately fixed INL and DNL of, respectively, 0. 17LSB and 0. 1LSB over a wide temperature range from-40°C to 125{0} C. Two R-DACs dissipate the static/dynamic power of 0. 12/0.155mW with the layout size of only 70 mu m{2}, showing a high performance for two 4-bit DACs.

In this paper, the benefits of the Negative-Capacitance FET (NCFET) in the design of a Low Noise Amplifier (LNA) are assessed. The effect of gain enhancement due to the Ferroelectric (Fe) layer on the performance of a common-source (CS) LNA is analytically modeled for NCFETs with 14 nm FinFET as the base technology. Simulations show a high gain for the NCFET-based LNA. Such performance in conjunction with the integrability with CMOS technology indicates the potential of NCFET for analog/RF design.

OBJECTIVE: Leukaemia is one of the most common cancers and may be associated with exposure to environmental carcinogens, especially outdoor air pollutants. The objective of this study was to investigate the association of ambient air pollution and leukaemia in Tehran, Iran.DESIGN: In this retrospective cohort study, data about the residential district of leukaemia cases diagnosed from 2010 to 2016 were inquired from the Ministry of Health cancer database. Data from a previous study were used to determine long-term average exposure to different air pollutants in 22 districts of Tehran. Latent profile analysis (LPA) was used to classify pollutants in two exposure profiles. The association between air pollutants and leukaemia incidence was analysed by negative binomial regression.SETTING: Twenty-two districts of Tehran megacity.PARTICIPANTS: Patients with leukaemia.OUTCOME MEASURES: The outcome variables were incidence rate ratios (IRR) of acute myeloid and lymphoid leukaemia across the districts of Tehran.RESULTS: The districts with higher concentrations for all pollutants were near the city centre. The IRR was positive but non-significant for most of the air pollutants. However, annual mean NOx was directly and significantly associated with total leukaemia incidence in the fully adjusted model (IRR (95% CI): 1.03 (1.003 to 1.06) per 10 ppb increase). Based on LPA, districts with a higher multiple air-pollutants profile were also associated with higher leukaemia incidence (IRR (95% CI): 1.003 (0.99 to 1.007) per 1 ppb increase).CONCLUSIONS: Our study shows that districts with higher air pollution (nitrogen oxides and multipollutants) have higher incidence rates of leukaemia in Tehran, Iran. This study warrants conducting further research with individual human data and better control of confounding.

OBJECTIVE: Leukaemia is one of the most common cancers and may be associated with exposure to environmental carcinogens, especially outdoor air pollutants. The objective of this study was to investigate the association of ambient air pollution and leukaemia in Tehran, Iran.DESIGN: In this retrospective cohort study, data about the residential district of leukaemia cases diagnosed from 2010 to 2016 were inquired from the Ministry of Health cancer database. Data from a previous study were used to determine long-term average exposure to different air pollutants in 22 districts of Tehran. Latent profile analysis (LPA) was used to classify pollutants in two exposure profiles. The association between air pollutants and leukaemia incidence was analysed by negative binomial regression.SETTING: Twenty-two districts of Tehran megacity.PARTICIPANTS: Patients with leukaemia.OUTCOME MEASURES: The outcome variables were incidence rate ratios (IRR) of acute myeloid and lymphoid leukaemia across the districts of Tehran.RESULTS: The districts with higher concentrations for all pollutants were near the city centre. The IRR was positive but non-significant for most of the air pollutants. However, annual mean NOx was directly and significantly associated with total leukaemia incidence in the fully adjusted model (IRR (95% CI): 1.03 (1.003 to 1.06) per 10 ppb increase). Based on LPA, districts with a higher multiple air-pollutants profile were also associated with higher leukaemia incidence (IRR (95% CI): 1.003 (0.99 to 1.007) per 1 ppb increase).CONCLUSIONS: Our study shows that districts with higher air pollution (nitrogen oxides and multipollutants) have higher incidence rates of leukaemia in Tehran, Iran. This study warrants conducting further research with individual human data and better control of confounding.

Magnetic resonance imaging (MRI) is one of the noninvasive imaging modalities that can produce high-quality images. However, the scan procedure is relatively slow, which causes patient discomfort and motion artifacts in images. Accelerating MRI hardware is constrained by physical and physiological limitations. A popular alternative approach to accelerated MRI is to undersample the k-space data. While undersampling speeds up the scan procedure, it generates artifacts in the images, and advanced reconstruction algorithms are needed to produce artifact-free images. Recently deep learning has emerged as a promising MRI reconstruction method to address this problem. However, straightforward adoption of the existing deep learning neural network architectures in MRI reconstructions is not usually optimal in terms of efficiency and reconstruction quality. In this work, MRI reconstruction from undersampled data was carried out using an optimized neural network using a novel evolutionary neural architecture search algorithm. Brain and knee MRI datasets show that the proposed algorithm outperforms manually designed neural network-based MR reconstruction models., Comment: 11 pages, 9 figures, and 4 tables

Contains fulltext : 235063.pdf (Publisher’s version ) (Open Access), The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. The cilium is partitioned from the cell body by the transition zone, a known hotspot for ciliopathy-related proteins. Despite years of Joubert syndrome (JBTS) gene discovery, the genetic cause cannot be identified in up to 30% of individuals with JBTS, depending on the cohort, sequencing method, and criteria for pathogenic variants. Using exome and targeted sequencing of 655 families with JBTS, we identified three individuals from two families harboring biallelic, rare, predicted-deleterious missense TMEM218 variants. Via MatchMaker Exchange, we identified biallelic TMEM218 variants in four additional families with ciliopathy phenotypes. Of note, four of the six families carry missense variants affecting the same highly conserved amino acid position 115. Clinical features included the molar tooth sign (N = 2), occipital encephalocele (N = 5, all fetuses), retinal dystrophy (N = 4, all living individuals), polycystic kidneys (N = 2), and polydactyly (N = 2), without liver involvement. Combined with existing functional data linking TMEM218 to ciliary transition zone function, our human genetic data make a strong case for TMEM218 dysfunction as a cause of ciliopathy phenotypes including JBTS with retinal dystrophy and Meckel syndrome. Identifying all genetic causes of the Joubert-Meckel spectrum enables diagnostic testing, prognostic and recurrence risk counseling, and medical monitoring, as well as work to delineate the underlying biological mechanisms and identify targets for future therapies.

The One-Health approach highlights that the health of human populations is closely connected to the health of animals and their shared environment. Cryptosporidiosis is an opportunistic zoonotic disease considering as global public health concern. Cats are considered as one of potential host for transmitting the Cryptosporidium spp. infection to humans. A random-effects meta-analysis model was used to estimate the overall and the subgroup-pooled prevalence of Cryptosporidium spp. across studies, and the variance between studies (heterogeneity) were quantified by I2 index. Eighty articles (including 92 datasets), from 29 countries met eligibility criteria for analysis. The pooled global prevalence (95% CI) of Cryptosporidium spp. in cats was 6% (4-8%), being highest in Africa 14% (0-91%) and lowest in South and Central America 4% (3-7%) countries. Considering the detection methods, the pooled prevalence was estimated to be 26% (1-67%) using serological detection methods, 6% (3-10%) using coproantigen detection methods, 5% (3-7%) using molecular detection methods, and 4% (3-7%) using microscopic detection methods. The highest prevalence of Cryptosporidium spp. was found in stray cats 10% (5-17%), while pet (domestic) cats 4% (3-7%) had the lowest prevalence. These results emphasize the role of cats as reservoir hosts for human-infecting Cryptosporidium spp. Prevention and control of this zoonosis in cats should receive greater attention by health officials and health policymakers, especially in countries where prevalence are highest.

Faisal Ahmed,1 Saleh Al-wageeh,2 Saif Ghabisha,2 Ebrahim Al-shami,1 Khalil Al-naggar,1 Ghamdan Obaid,3 Ali Eslahi,4,5 Mohammed Alfaragi6 1Urology Research Center, Al-Thora General Hospital, Department of Urology, School of Medicine, Ibb University of Medical Science, Ibb, Yemen; 2Department of General Surgery, School of Medicine, Ibb University of Medical Science, Ibb, Yemen; 3Department of Orthopedy, School of Medicine, Ibb University of Medical Science, Ibb, Yemen; 4Department of Urology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; 5Shiraz Geriatric Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; 6Department of Dermatology, Skin Soft Clinic, Unaizah, Saudi ArabiaCorrespondence: Faisal AhmedUrology Research Center, Al-Thora General Hospital, Department of Urology, Ibb University of Medical Science, Ibb, YemenTel +967776089579Email fmaaa2006@yahoo.comAbstract: Circumcision is one of the important public surgeries performed globally. It is a popular non-therapeutic procedure that can be performed by people of various abilities and skills, ranging from trained medical practitioners to non-specialists, depending on their cultural and social backgrounds. Consequently, this surgery may cause varying types and frequencies of complications. Glans amputation and death due to severe bleeding, as a complication of this procedure, are rare, and the patients are left with morbidity and life-long complications. Here, we describe two cases of catastrophic complications due to ritual circumcision (one penile glans amputation and one death).Keywords: complications, death, penile injury, ritual circumcision

Contains fulltext : 235063.pdf (Publisher’s version ) (Open Access), The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. The cilium is partitioned from the cell body by the transition zone, a known hotspot for ciliopathy-related proteins. Despite years of Joubert syndrome (JBTS) gene discovery, the genetic cause cannot be identified in up to 30% of individuals with JBTS, depending on the cohort, sequencing method, and criteria for pathogenic variants. Using exome and targeted sequencing of 655 families with JBTS, we identified three individuals from two families harboring biallelic, rare, predicted-deleterious missense TMEM218 variants. Via MatchMaker Exchange, we identified biallelic TMEM218 variants in four additional families with ciliopathy phenotypes. Of note, four of the six families carry missense variants affecting the same highly conserved amino acid position 115. Clinical features included the molar tooth sign (N = 2), occipital encephalocele (N = 5, all fetuses), retinal dystrophy (N = 4, all living individuals), polycystic kidneys (N = 2), and polydactyly (N = 2), without liver involvement. Combined with existing functional data linking TMEM218 to ciliary transition zone function, our human genetic data make a strong case for TMEM218 dysfunction as a cause of ciliopathy phenotypes including JBTS with retinal dystrophy and Meckel syndrome. Identifying all genetic causes of the Joubert-Meckel spectrum enables diagnostic testing, prognostic and recurrence risk counseling, and medical monitoring, as well as work to delineate the underlying biological mechanisms and identify targets for future therapies.

Contains fulltext : 235063.pdf (Publisher’s version ) (Open Access), The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. The cilium is partitioned from the cell body by the transition zone, a known hotspot for ciliopathy-related proteins. Despite years of Joubert syndrome (JBTS) gene discovery, the genetic cause cannot be identified in up to 30% of individuals with JBTS, depending on the cohort, sequencing method, and criteria for pathogenic variants. Using exome and targeted sequencing of 655 families with JBTS, we identified three individuals from two families harboring biallelic, rare, predicted-deleterious missense TMEM218 variants. Via MatchMaker Exchange, we identified biallelic TMEM218 variants in four additional families with ciliopathy phenotypes. Of note, four of the six families carry missense variants affecting the same highly conserved amino acid position 115. Clinical features included the molar tooth sign (N = 2), occipital encephalocele (N = 5, all fetuses), retinal dystrophy (N = 4, all living individuals), polycystic kidneys (N = 2), and polydactyly (N = 2), without liver involvement. Combined with existing functional data linking TMEM218 to ciliary transition zone function, our human genetic data make a strong case for TMEM218 dysfunction as a cause of ciliopathy phenotypes including JBTS with retinal dystrophy and Meckel syndrome. Identifying all genetic causes of the Joubert-Meckel spectrum enables diagnostic testing, prognostic and recurrence risk counseling, and medical monitoring, as well as work to delineate the underlying biological mechanisms and identify targets for future therapies.

Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed vesicular tethering. TRAPPC4 was recently implicated in a recessive neurodevelopmental condition in four unrelated families due to a shared c.454+3A>G splice variant. Here, we report 23 patients from 17 independent families with an early-infantile-onset neurodegenerative presentation, where we also identified the homozygous variant hg38:11:119020256 A>G (NM_016146.5:c.454+3A>G) in TRAPPC4 through exome or genome sequencing. No other clinically relevant TRAPPC4 variants were identified among any of over 10,000 patients with neurodevelopmental conditions. We found the carrier frequency of TRAPPC4 c.454+3A>G was 2.4-5.4 per 10,000 healthy individuals. Affected individuals with the homozygous TRAPPC4 c.454+3A>G variant showed profound psychomotor delay, developmental regression, early-onset epilepsy, microcephaly and progressive spastic tetraplegia. Based upon RNA sequencing, the variant resulted in partial exon 3 skipping and generation of an aberrant transcript owing to use of a downstream cryptic splice donor site, predicting a premature stop codon and nonsense mediated decay. These data confirm the pathogenicity of the TRAPPC4 c.454+3A>G variant, and refine the clinical presentation of TRAPPC4-related encephalopathy.

The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. The cilium is partitioned from the cell body by the transition zone, a known hotspot for ciliopathy-related proteins. Despite years of Joubert syndrome (JBTS) gene discovery, the genetic cause cannot be identified in up to 30% of individuals with JBTS, depending on the cohort, sequencing method, and criteria for pathogenic variants. Using exome and targeted sequencing of 655 families with JBTS, we identified three individuals from two families harboring biallelic, rare, predicted-deleterious missense TMEM218 variants. Via MatchMaker Exchange, we identified biallelic TMEM218 variants in four additional families with ciliopathy phenotypes. Of note, four of the six families carry missense variants affecting the same highly conserved amino acid position 115. Clinical features included the molar tooth sign (N = 2), occipital encephalocele (N = 5, all fetuses), retinal dystrophy (N = 4, all living individuals), polycystic kidneys (N = 2), and polydactyly (N = 2), without liver involvement. Combined with existing functional data linking TMEM218 to ciliary transition zone function, our human genetic data make a strong case for TMEM218 dysfunction as a cause of ciliopathy phenotypes including JBTS with retinal dystrophy and Meckel syndrome. Identifying all genetic causes of the Joubert-Meckel spectrum enables diagnostic testing, prognostic and recurrence risk counseling, and medical monitoring, as well as work to delineate the underlying biological mechanisms and identify targets for future therapies.

The One-Health approach highlights that the health of human populations is closely connected to the health of animals and their shared environment. Cryptosporidiosis is an opportunistic zoonotic disease considering as global public health concern. Cats are considered as one of potential host for transmitting the Cryptosporidium spp. infection to humans. A random-effects meta-analysis model was used to estimate the overall and the subgroup-pooled prevalence of Cryptosporidium spp. across studies, and the variance between studies (heterogeneity) were quantified by I2 index. Eighty articles (including 92 datasets), from 29 countries met eligibility criteria for analysis. The pooled global prevalence (95% CI) of Cryptosporidium spp. in cats was 6% (4-8%), being highest in Africa 14% (0-91%) and lowest in South and Central America 4% (3-7%) countries. Considering the detection methods, the pooled prevalence was estimated to be 26% (1-67%) using serological detection methods, 6% (3-10%) using coproantigen detection methods, 5% (3-7%) using molecular detection methods, and 4% (3-7%) using microscopic detection methods. The highest prevalence of Cryptosporidium spp. was found in stray cats 10% (5-17%), while pet (domestic) cats 4% (3-7%) had the lowest prevalence. These results emphasize the role of cats as reservoir hosts for human-infecting Cryptosporidium spp. Prevention and control of this zoonosis in cats should receive greater attention by health officials and health policymakers, especially in countries where prevalence are highest.

In this paper, a small-signal model of Negative Capacitance FETs (NCFETs) is developed and the analog performance of NCFETs is studied using the developed model. A new ferroelectric factor K is introduced to capture the ferroelectric gain in NCFETs as compared to traditional small signal MOSFET/FinFET models. Using our new NCFET small-signal model, we show analog design trade-offs between various analog benchmarks such as gain, bandwidth, cut-off frequency, and linearity. Additionally, the developed model is used to demonstrate trade-offs in NCFET analog performance as ferroelectric parameters are changed. Results show that if pushed for a higher intrinsic gain via thicker Fe layers in NCFETs, the linearity of the device suffers. This reveals inherent device level trade-off in NCFETs for analog circuit performance.

Faisal Ahmed,1 Saleh Al-wageeh,2 Saif Ghabisha,2 Ebrahim Al-shami,1 Khalil Al-naggar,1 Ghamdan Obaid,3 Ali Eslahi,4,5 Mohammed Alfaragi6 1Urology Research Center, Al-Thora General Hospital, Department of Urology, School of Medicine, Ibb University of Medical Science, Ibb, Yemen; 2Department of General Surgery, School of Medicine, Ibb University of Medical Science, Ibb, Yemen; 3Department of Orthopedy, School of Medicine, Ibb University of Medical Science, Ibb, Yemen; 4Department of Urology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; 5Shiraz Geriatric Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; 6Department of Dermatology, Skin Soft Clinic, Unaizah, Saudi ArabiaCorrespondence: Faisal AhmedUrology Research Center, Al-Thora General Hospital, Department of Urology, Ibb University of Medical Science, Ibb, YemenTel +967776089579Email fmaaa2006@yahoo.comAbstract: Circumcision is one of the important public surgeries performed globally. It is a popular non-therapeutic procedure that can be performed by people of various abilities and skills, ranging from trained medical practitioners to non-specialists, depending on their cultural and social backgrounds. Consequently, this surgery may cause varying types and frequencies of complications. Glans amputation and death due to severe bleeding, as a complication of this procedure, are rare, and the patients are left with morbidity and life-long complications. Here, we describe two cases of catastrophic complications due to ritual circumcision (one penile glans amputation and one death).Keywords: complications, death, penile injury, ritual circumcision

Aim: The aim of the present study was to translate the Postpartum Partner Support Scale (PPSS) into Persian and evaluate its psychometric properties among postpartum women. Design: A total of 248 women aged 18–39 years participated in this psychometric study. The PPSS was translated into Persian using a forward-backward method. Confirmatory factor analysis (CFA) and Rasch model analysis were used to assess the psychometric properties of the PPSS. In addition, the Edinburgh Postpartum Depression Scale (EPDS) was completed simultaneously to assess the construct validity. Internal consistency of the questionnaire was assessed by calculating the Cronbach's alpha coefficient and corrected item-total correlation. Results: The unidimensionality of the PPSS was supported in both CFA and Rasch analysis. The PPSS had a significant negative association with EPDS (r = −0.39 p <.001). The scale had excellent internal consistency (Cronbach's alpha = 0.94) and the correlation between items and total score was satisfactory. Conclusion: The Persian version of PPSS with 20 items is a valid and reliable scale to assess postpartum support.

Contains fulltext : 218287.pdf (Publisher’s version ) (Open Access), Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with life. We provide additional examples where a similar disease mechanism applies.

Although multimodal cancer therapy has shown superior antitumor efficacy in comparison to individual therapy due to the potential generation of synergistic interactions among the treatments, its clinical usage is highly hampered by systemic dose-limiting toxicities. Herein, we developed a multi-responsive nanocomplex constructed from alginate hydrogel co-loaded with cisplatin and gold nanoparticles (AuNPs) (abbreviated as ACA) to combine chemotherapy, radiotherapy (RT) and photothermal therapy. The nanocomplex markedly improved the efficiency of drug delivery where ACA resulted in noticeably higher tumor growth inhibition than free cisplatin. The tumor treated with ACA showed an increased heating rate upon 532 nm laser irradiation, indicating the photothermal conversion ability of the nanocomplex. While RT alone resulted in slight tumor growth inhibition, thermo-chemo therapy, chemoradiation therapy and thermo-radio therapy using ACA dramatically slowed down the rate of tumor growth. Upon 532 nm laser and 6 MV X-ray, the nanocomplex could enable a trimodal thermo-chemo-radio therapy that yielded complete tumor regression with no evidence of relapse during the 90-days follow up period. The results of this study demonstrated that the incorporation of AuNPs and cisplatin into alginate hydrogel network can effectively combine chemotherapy, RT and photothermal therapy to achieve a locally synergistic cancer therapy. (C) 2020 Elsevier B.V. All rights reserved.

Best Paper Award ​© 2020 IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting/republishing this material for advertising or promotional purposes, creating new collective works, for resale or redistribution to servers or lists, or reuse of any copyrighted component of this work in other works., The Web has a collection of over 150 million tables, which as a whole represents an invaluable source of semi-structured knowledge. Such tables are commonly referred to as Web tables, and are considerably easier to leverage in automated processes than completely unstructured, free-format text. Understanding the semantics of Web tables is important since they are used in various applications like knowledge base augmentation, information retrieval or natural language interfaces for databases. The task of understanding the semantics of a given Web table is known as Web table annotation. In recent years, it has been tackled through methods where the table is enriched using existing knowledge bases containing valuable information on the domain at hand, its entities and their mutual relationships. In this paper, we present two novel and unsupervised Web table annotation methods, which leverage the context of the tables to better capture their semantics. Our first method is lookup-based and exploits text similarity to find reference entities in the knowledge base. The second method uses distributional vector representations – a.k.a. embeddings – of the Web tables to elicit their context and disambiguate their semantics. Experiments show that our proposed approach outperforms the state of the art in Web table annotation by up to 18%. Another contribution of this work is a manually corrected version of one of the popular gold standard datasets, Limaye, with annotations from DBpedia. Our dataset and code are publicly available.

Contains fulltext : 218287.pdf (Publisher’s version ) (Open Access), Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with life. We provide additional examples where a similar disease mechanism applies.

Although multimodal cancer therapy has shown superior antitumor efficacy in comparison to individual therapy due to the potential generation of synergistic interactions among the treatments, its clinical usage is highly hampered by systemic dose-limiting toxicities. Herein, we developed a multi-responsive nanocomplex constructed from alginate hydrogel co-loaded with cisplatin and gold nanoparticles (AuNPs) (abbreviated as ACA) to combine chemotherapy, radiotherapy (RT) and photothermal therapy. The nanocomplex markedly improved the efficiency of drug delivery where ACA resulted in noticeably higher tumor growth inhibition than free cisplatin. The tumor treated with ACA showed an increased heating rate upon 532 nm laser irradiation, indicating the photothermal conversion ability of the nanocomplex. While RT alone resulted in slight tumor growth inhibition, thermo-chemo therapy, chemoradiation therapy and thermo-radio therapy using ACA dramatically slowed down the rate of tumor growth. Upon 532 nm laser and 6 MV X-ray, the nanocomplex could enable a trimodal thermo-chemo-radio therapy that yielded complete tumor regression with no evidence of relapse during the 90-days follow up period. The results of this study demonstrated that the incorporation of AuNPs and cisplatin into alginate hydrogel network can effectively combine chemotherapy, RT and photothermal therapy to achieve a locally synergistic cancer therapy. (C) 2020 Elsevier B.V. All rights reserved.

Best Paper Award ​© 2020 IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting/republishing this material for advertising or promotional purposes, creating new collective works, for resale or redistribution to servers or lists, or reuse of any copyrighted component of this work in other works., The Web has a collection of over 150 million tables, which as a whole represents an invaluable source of semi-structured knowledge. Such tables are commonly referred to as Web tables, and are considerably easier to leverage in automated processes than completely unstructured, free-format text. Understanding the semantics of Web tables is important since they are used in various applications like knowledge base augmentation, information retrieval or natural language interfaces for databases. The task of understanding the semantics of a given Web table is known as Web table annotation. In recent years, it has been tackled through methods where the table is enriched using existing knowledge bases containing valuable information on the domain at hand, its entities and their mutual relationships. In this paper, we present two novel and unsupervised Web table annotation methods, which leverage the context of the tables to better capture their semantics. Our first method is lookup-based and exploits text similarity to find reference entities in the knowledge base. The second method uses distributional vector representations – a.k.a. embeddings – of the Web tables to elicit their context and disambiguate their semantics. Experiments show that our proposed approach outperforms the state of the art in Web table annotation by up to 18%. Another contribution of this work is a manually corrected version of one of the popular gold standard datasets, Limaye, with annotations from DBpedia. Our dataset and code are publicly available.

Neuromorphic or bioinspired computational platforms, as an alternative for von-Neumann structures, have benefitted from the excellent features of emerging technologies in order to emulate the behavior of the biological brain in an accurate and energy-efficient way. Integrability with CMOS technology and low power consumption make ferroelectric field-effect transistor (FEFET) an attractive candidate to perform such paradigms, particularly for image processing. In this article, we use the FEFET device to make energy-efficient oscillatory neurons as the main parts of neural networks for image processing applications, especially for edge detection. Based on our simulation results, we estimated a significant energy efficiency compared with other technologies, which shows roughly 5-120\times reduction, depending on the design.

Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intractable epilepsy, severe developmental delay, progressive microcephaly, visual disturbance and similar minor dysmorphisms. Whole exome sequencing identified a recurrent, homozygous variant (chr2:64083454A > G) in the essential UDP-glucose pyrophosphorylase (UGP2) gene in all probands. This rare variant results in a tolerable Met12Val missense change of the longer UGP2 protein isoform but causes a disruption of the start codon of the shorter isoform, which is predominant in brain. We show that the absence of the shorter isoform leads to a reduction of functional UGP2 enzyme in neural stem cells, leading to altered glycogen metabolism, upregulated unfolded protein response and premature neuronal differentiation, as modeled during pluripotent stem cell differentiation in vitro. In contrast, the complete lack of all UGP2 isoforms leads to differentiation defects in multiple lineages in human cells. Reduced expression of Ugp2a/Ugp2b in vivo in zebrafish mimics visual disturbance and mutant animals show a behavioral phenotype. Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. Importantly, it also shows that isoform-specific start-loss mutations causing expression loss of a tissue-relevant isoform of an essential protein can cause a genetic disease, even when an organism-wide protein absence is incompatible with

In electroencephalogram (EEG) signal processing, finding the appropriate information from a dataset has been a big challenge for successful signal classification. The feature selection methods make it possible to solve this problem; however, the method selection is still under investigation to find out which feature can perform the best to extract the most proper features of the signal to improve the classification performance. In this study, we use the genetic algorithm (GA), a heuristic searching algorithm, to find the optimum combination of the feature extraction methods and the classifiers, in the brain-computer interface (BCI) applications. A BCI system can be practical if and only if it performs with high accuracy and high speed alongside each other. In the proposed method, GA performs as a searching engine to find the best combination of the features and classifications. The features used here are Katz, Higuchi, Petrosian, Sevcik, and box-counting dimension (BCD) feature extraction methods. These features are applied to the wavelet subbands and are classified with four classifiers such as adaptive neuro-fuzzy inference system (ANFIS), fuzzy k-nearest neighbors (FKNN), support vector machine (SVM) and linear discriminant analysis (LDA). Due to the huge number of features, the GA optimization is used to find the features with the optimum fitness value (FV). Results reveal that Katz fractal feature estimation method with LDA classification has the best FV. Consequently, due to the low computation time of the first Daubechies wavelet transformation in comparison to the original signal, the final selected methods contain the fractal features of the first coefficient of the detail subbands., Comment: 12 pages, 4 figures, 1 table

Carrier frequency offset (CFO) in orthogonal frequency division multiplexing (OFDM) systems is a major problem in achieving orthogonality between subcarriers. In this paper, we propose an estimator for CFO in OFDM systems using the subspace method. We used the linear prediction property of a complex sinusoidal signal. The estimator was obtained by solving a quadratic eigenvalue problem. Its performance was examined and compared with a Maximum-Likelihood (ML), Cyclic-Prefix based and Pilot-based estimators by the measures of mean square error (MSE), and Cramer-Rao Lower Bound (CRLB). Numerical results are presented to show the visible advantages obtained by using this estimator.

Carrier frequency offset (CFO) in orthogonal frequency division multiplexing (OFDM) systems is a major problem in achieving orthogonality between subcarriers. In this paper, we propose an estimator for CFO in OFDM systems using the subspace method. We used the linear prediction property of a complex sinusoidal signal. The estimator was obtained by solving a quadratic eigenvalue problem. Its performance was examined and compared with a Maximum-Likelihood (ML), Cyclic-Prefix based and Pilot-based estimators by the measures of mean square error (MSE), and Cramer-Rao Lower Bound (CRLB). Numerical results are presented to show the visible advantages obtained by using this estimator.

Biocatalysis is a growing field in the production of fine chemicals and will most probably increase its share in the future. Enzymatic reactions are carried out under mild conditions, i.e., non-toxic solvents, low temperature and pressure, which eliminates most environmental drawbacks associated with conventional production methods. The superiority of chemo-, regio- and enantioselectivity of enzymes exhibit significant advantages over conventional catalysts for production of fine chemicals, flavors, fragrances, agrochemicals and pharmaceuticals. Enzymes can function both in aqueous and non-aqueous solvents. As a result of the growing scientific and industrial interest towards green chemistry, green solvent systems, which are mainly water, supercritical fluids, ionic liquids, fluorinated solvents, and solvent-free systems have become more popular in biocatalysis. However, the activity and selectivity of an enzyme is heavily dependent on solvent properties. In this review, various green solvents were classified and some of their influential features on enzyme activity were discussed.

Biocatalysis is a growing field in the production of fine chemicals and will most probably increase its share in the future. Enzymatic reactions are carried out under mild conditions, i.e., non-toxic solvents, low temperature and pressure, which eliminates most environmental drawbacks associated with conventional production methods. The superiority of chemo-, regio- and enantioselectivity of enzymes exhibit significant advantages over conventional catalysts for production of fine chemicals, flavors, fragrances, agrochemicals and pharmaceuticals. Enzymes can function both in aqueous and non-aqueous solvents. As a result of the growing scientific and industrial interest towards green chemistry, green solvent systems, which are mainly water, supercritical fluids, ionic liquids, fluorinated solvents, and solvent-free systems have become more popular in biocatalysis. However, the activity and selectivity of an enzyme is heavily dependent on solvent properties. In this review, various green solvents were classified and some of their influential features on enzyme activity were discussed.

Mozhdeh Mazaheri,1,* Niloofar Eslahi,1,* Farideh Ordikhani,1,* Elnaz Tamjid,2 Abdolreza Simchi1,3 1Department of Materials Science and Engineering, Sharif University of Technology, 2Department of Nanobiotechnology, Faculty of Biological Sciences, Tarbiat Modares University, 3Institute for Nanoscience and Nanotechnology, Sharif University of Technology, Tehran, Iran *These authors contributed equally to this work Abstract: The technological and clinical need for orthopedic replacement materials has led to significant advances in the field of nanomedicine, which embraces the breadth of nanotechnology from pharmacological agents and surface modification through to regulation and toxicology. A variety of nanostructures with unique chemical, physical, and biological properties have been engineered to improve the functionality and reliability of implantable medical devices. However, mimicking living bone tissue is still a challenge. The scope of this review is to highlight the most recent accomplishments and trends in designing nanomaterials and their applications in orthopedics with an outline on future directions and challenges. Keywords: orthopedics, nanomedicine, tissue engineering, implantable materials, nanotoxicology

Mozhdeh Mazaheri,1,* Niloofar Eslahi,1,* Farideh Ordikhani,1,* Elnaz Tamjid,2 Abdolreza Simchi1,3 1Department of Materials Science and Engineering, Sharif University of Technology, 2Department of Nanobiotechnology, Faculty of Biological Sciences, Tarbiat Modares University, 3Institute for Nanoscience and Nanotechnology, Sharif University of Technology, Tehran, Iran *These authors contributed equally to this work Abstract: The technological and clinical need for orthopedic replacement materials has led to significant advances in the field of nanomedicine, which embraces the breadth of nanotechnology from pharmacological agents and surface modification through to regulation and toxicology. A variety of nanostructures with unique chemical, physical, and biological properties have been engineered to improve the functionality and reliability of implantable medical devices. However, mimicking living bone tissue is still a challenge. The scope of this review is to highlight the most recent accomplishments and trends in designing nanomaterials and their applications in orthopedics with an outline on future directions and challenges. Keywords: orthopedics, nanomedicine, tissue engineering, implantable materials, nanotoxicology

The Bin Packing Problem is one of the most important Combinatorial Optimization problems in optimization and has a lot of real-world applications. Many approximation algorithms have been presented for this problem because of its NP-hard nature. In this article also a new creative approximation algorithm is presented for this important problem. It has been proven that the best approximation ratio and the best time order for the Bin Packing Problem are 3/2 and O(n), respectively unless P=NP. The presented algorithm in this article has the best possible factors, O(n) and 3/2.

In this paper, we propose a new framework for compressive video sensing (CVS) that exploits the inherent spatial and temporal redundancies of a video sequence, effectively. The proposed method splits the video sequence into the key and non-key frames followed by dividing each frame into small non-overlapping blocks of equal sizes. At the decoder side, the key frames are reconstructed using adaptively learned sparsifying (ALS) basis via $\ell_0$ minimization, in order to exploit the spatial redundancy. Also, the effectiveness of three well-known dictionary learning algorithms is investigated in our method. For recovery of the non-key frames, a prediction of the current frame is initialized, by using the previous reconstructed frame, in order to exploit the temporal redundancy. The prediction is employed in a proper optimization problem to recover the current non-key frame. To compare our experimental results with the results of some other methods, we employ peak signal to noise ratio (PSNR) and structural similarity (SSIM) index as the quality assessor. The numerical results show the adequacy of our proposed method in CVS., Comment: 26 Pages, 5 Figures, 3 Tables, This paper was presented in part at the 7th International Symposium on Telecommunications. arXiv admin note: text overlap with arXiv:1404.7566 by other authors

The motivation of this paper is to introduce a novel framework for the restoration of images corrupted by mixed Gaussian-impulse noise. To this aim, first, an adaptive curvelet thresholding criterion is proposed which tries to adaptively remove the perturbations appeared during denoising process. Then, a new statistical regularization term, called joint adaptive statistical prior (JASP), is established which enforces both the local and nonlocal statistical consistencies, simultaneously, in a unified manner. Furthermore, a novel technique for mixed Gaussian plus impulse noise removal using JASP in a variational scheme is developed--we refer to it as De-JASP. To efficiently solve the above variational scheme, an efficient alternating minimization algorithm based on split Bregman iterative framework is developed. Extensive experimental results manifest the effectiveness of the proposed method comparing with the current state-of-the-art methods in mixed Gaussian-impulse noise removal., Comment: 11 Pages, 7 Figures, 2 Tables, In Proceeding of 9th Iranian Conf. Machine Vis. Image Process

Neda Eslahi,1,2,* Mahmoud Reza Hadjighassem,1,3 Mohammad Taghi Joghataei,1,2 Tooba Mirzapour,4 Mehrdad Bakhtiyari,1,2 Malak Shakeri,5 Vahid Pirhajati,1,2 Peymaneh Shirinbayan,6,* Morteza Koruji1,21Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran; 2Department of Anatomical Sciences, School of Medicine, Iran University of Medical Sciences, Tehran, Iran; 3Department of Neurosciences, School of Advanced Medical Technologies, Tehran University of Medical Sciences, Tehran, Iran; 4Department of Biology, Faculty of Science, University of Mohaghegh Ardabili, Ardabil, Iran; 5Department of Animal Science, Agricultural Campus, University of Tehran, Tehran, Iran; 6Pediatric Neuro-Rehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran*These authors contributed equally to this articleIntroduction: A 3D-nanofiber scaffold acts in a similar way to the extracellular matrix (ECM)/basement membrane that enhances the proliferation and self-renewal of stem cells. The goal of the present study was to investigate the effects of a poly L-lactic acid (PLLA) nanofiber scaffold on frozen-thawed neonate mouse spermatogonial stem cells (SSCs) and testis tissues.Methods: The isolated spermatogonial cells were divided into six culture groups: (1) fresh spermatogonial cells, (2) fresh spermatogonial cells seeded onto PLLA, (3) frozen-thawed spermatogonial cells, (4) frozen-thawed spermatogonial cells seeded onto PLLA, (5) spermatogonial cells obtained from frozen-thawed testis tissue, and (6) spermatogonial cells obtained from frozen-thawed testis tissue seeded onto PLLA. Spermatogonial cells and testis fragments were cryopreserved and cultured for 3 weeks. Cluster assay was performed during the culture. The presence of spermatogonial cells in the culture was determined by a reverse transcriptase polymerase chain reaction for spermatogonial markers (Oct4, GFRα-1, PLZF, Mvh(VASA), Itgα6, and

Neda Eslahi,1,2,* Mahmoud Reza Hadjighassem,1,3 Mohammad Taghi Joghataei,1,2 Tooba Mirzapour,4 Mehrdad Bakhtiyari,1,2 Malak Shakeri,5 Vahid Pirhajati,1,2 Peymaneh Shirinbayan,6,* Morteza Koruji1,21Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran; 2Department of Anatomical Sciences, School of Medicine, Iran University of Medical Sciences, Tehran, Iran; 3Department of Neurosciences, School of Advanced Medical Technologies, Tehran University of Medical Sciences, Tehran, Iran; 4Department of Biology, Faculty of Science, University of Mohaghegh Ardabili, Ardabil, Iran; 5Department of Animal Science, Agricultural Campus, University of Tehran, Tehran, Iran; 6Pediatric Neuro-Rehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran*These authors contributed equally to this articleIntroduction: A 3D-nanofiber scaffold acts in a similar way to the extracellular matrix (ECM)/basement membrane that enhances the proliferation and self-renewal of stem cells. The goal of the present study was to investigate the effects of a poly L-lactic acid (PLLA) nanofiber scaffold on frozen-thawed neonate mouse spermatogonial stem cells (SSCs) and testis tissues.Methods: The isolated spermatogonial cells were divided into six culture groups: (1) fresh spermatogonial cells, (2) fresh spermatogonial cells seeded onto PLLA, (3) frozen-thawed spermatogonial cells, (4) frozen-thawed spermatogonial cells seeded onto PLLA, (5) spermatogonial cells obtained from frozen-thawed testis tissue, and (6) spermatogonial cells obtained from frozen-thawed testis tissue seeded onto PLLA. Spermatogonial cells and testis fragments were cryopreserved and cultured for 3 weeks. Cluster assay was performed during the culture. The presence of spermatogonial cells in the culture was determined by a reverse transcriptase polymerase chain reaction for spermatogonial markers (Oct4, GFRα-1, PLZF, Mvh(VASA), Itgα6, and