Transfer Learning Empowered Skin Diseases Detection in Children

Human beings are often affected by a wide range of skin diseases,which can be attributed to genetic factors and environmental influences,such as exposure to sunshine with ultraviolet(UV)rays.If left untreated,these diseases can have severe consequences and spread,especially among children.Early detection is crucial to prevent their spread and improve a patient’s chances of recovery.Dermatology,the branch of medicine dealing with skin diseases,faces challenges in accurately diagnosing these conditions due to the difficulty in identifying and distinguishing between different diseases based on their appearance,type of skin,and others.This study presents a method for detecting skin diseases using Deep Learning(DL),focusing on the most common diseases affecting children in Saudi Arabia due to the high UV value in most of the year,especially in the summer.The method utilizes various Convolutional Neural Network(CNN)architectures to classify skin conditions such as eczema,psoriasis,and ringworm.The proposed method demonstrates high accuracy rates of 99.99%and 97%using famous and effective transfer learning models MobileNet and DenseNet121,respectively.This illustrates the potential of DL in automating the detection of skin diseases and offers a promising approach for early diagnosis and treatment.

The genetics of pediatric inflammatory bowel disease:Towards precision medicine

Pediatric inflammatory bowel disease(IBD)is a chronic and heterogeneous disease.IBD is commonly classified into Crohn’s disease and ulcerative colitis.It is linked to serious symptoms and complications.The onset of IBD commonly occurs during adolescence.Despite the significant number of cases globally(~5 million),the causes of pediatric IBD,which constitutes 25%of IBD patients,are not yet fully understood.Apart from environmental factors,genetic factors contribute to a higher risk of developing IBD.The predisposition risk of IBD can be investigated using genetic testing.Genetic mechanisms of pediatric IBD are highly complex which resulted in difficulty in selecting effective treatment or patient management.Genetic variation of IBD would serve as a basis for precision medicine and allow for the discovery of more robust treatment avenues for this condition in pediatric patients.This review aims to discuss the genetics of pediatric IBD,and current development in the screening,diagnosis,and treatment based on genetic profiling of pediatric IBD subjects toward more personalized management of this disease.

Identification of Crop Diseases Based on Improved Genetic Algorithm and Extreme Learning Machine

As an indispensable task in crop protection,the detection of crop diseases directly impacts the income of farmers.To address the problems of low crop-disease identification precision and detection abilities,a new method of detection is proposed based on improved genetic algorithm and extreme learning machine.Taking five different typical diseases with common crops as the objects,this method first preprocesses the images of crops and selects the optimal features for fusion.Then,it builds a model of crop disease identification for extreme learning machine,introduces the hill-climbing algorithm to improve the traditional genetic algorithm,optimizes the initial weights and thresholds of the machine,and acquires the approximately optimal solution.And finally,a data set of crop diseases is used for verification,demonstrating that,compared with several other common machine learning methods,this method can effectively improve the crop-disease identification precision and detection abilities and provide a basis for the identification of other crop diseases.

A summary about dendritic cells in skin diseases

Dendritic cellls (DCs) comprise an es se ntial component of the immune system, are crucial in the initiation of antigen s pecific immune responses. In this summary we focus on summarizing on the central role of DCs in skin diseases: Bullous dermatoses, Dermatitis, Psoriasis, Lichen Planus , Graft-versus-host disease, Connect Tissue Diseases, Virus Diseases, Fungi Diseases, HIV, Urticaria, Urticaria pigmentosa, Mastocytosis, Tumour, Sola r dermatoses. Moreover,in this summary we review the distribution and phenotype of DCs in human skin. Markers and phenotyps 's study have provided strong suppo rt for a concept in which DCs play an important role in the pothogenesis of som e skin diseases.

Androgens/Androgen Receptor in the Management of Skin Diseases

Beyond regulation of male sexual function, the increasing evidence shows that androgens and androgen receptor (AR) have a variety of physiological and pathological effects on the skin. Skin cells express all androgen metabolizing enzymes that are required for independent skin androgen synthesis and the development of hyperandrogenic related disorders such as acne, hirsutism and androgenetic alopecia. Targeting various elements of androgen function and metabolism is the major goal of medication design for the treatment of androgen-related diseases. Antiandrogen drugs such as clascoterone, flutamide could improve conditions. Even though the involvement of androgens and AR in skin diseases has been investigated for a long time, their molecular mechanisms in skin disorders remain largely insufficient. In this review, recent studies and advances on the role of androgens/AR in several skin-related diseases and their therapeutics are systematically summarized.

Editor's Choice——Application of genetic engineering for the treatment of neurodegenerative diseases

Gene therapy has been shown to be an effective method for protecting neural functions in the substantia nigra,

Integration between Genomic and Computational Statistical Surveys for the Screening of SNP Genetic Variants in Inflammatory Bowel Disease (IBD) Pediatric Patients*

Inflammatory bowel diseases (IBD) are complex multifactorial disorders that include Crohn’s disease (CD) and ulcerative colitis (UC). Considering that IBD is a genetic and multifactorial disease, we screened for the distribution dynamism of IBD pathogenic genetic variants (single nucleotide polymorphisms;SNPs) and risk factors in four (4) IBD pediatric patients, by integrating both clinical exome sequencing and computational statistical approaches, aiming to categorize IBD patients in CD and UC phenotype. To this end, we first aligned genomic read sequences of these IBD patients to hg19 human genome by using bowtie 2 package. Next, we performed genetic variant calling analysis in terms of single nucleotide polymorphism (SNP) for genes covered by at least 20 read genomic sequences. Finally, we checked for biological and genomic functions of genes exhibiting statistically significant genetic variant (SNPs) by introducing Fitcon genomic parameter. Findings showed Fitcon parameter as normalizing IBD patient’s population variability, as well as inducing a relative good clustering between IBD patients in terms of CD and UC phenotypes. Genomic analysis revealed a random distribution of risk factors and as well pathogenic SNPs genetic variants in the four IBD patient’s genome, claiming to be involved in: i) Metabolic disorders, ii) Autoimmune deficiencies;iii) Crohn’s disease pathways. Integration of genomic and computational statistical analysis supported a relative genetic variability regarding IBD patient population by processing IBD pathogenic SNP genetic variants as opposite to IBD risk factor variants. Interestingly, findings clearly allowed categorizing IBD patients in CD and UC phenotypes by applying Fitcon parameter in selecting IBD pathogenic genetic variants. Considering as a whole, the study suggested the efficiency of integrating clinical exome sequencing and computational statistical tools as a right approach in discriminating IBD phenotypes as well as improving inflammatory bowel disease (IBD) molecular diagnostic process.

Applications and developments of gene therapy drug delivery systems for genetic diseases

Genetic diseases seriously threaten human health and have always been one of the refractory conditions facing humanity.Currently,gene therapy drugs such as siRNA,shRNA,antisense oligonucleotide,CRISPR/Cas9 system,plasmid DNA and miRNA have shown great potential in biomedical applications.To avoid the degradation of gene therapy drugs in the body and effectively deliver them to target tissues,cells and organelles,the development of excellent drug delivery vehicles is of utmost importance.Viral vectors are the most widely used delivery vehicles for gene therapy in vivo and in vitro due to their high transfection efficiency and stable transgene expression.With the development of nanotechnology,novel nanocarriers are gradually replacing viral vectors,emerging superior performance.This review mainly illuminates the current widely used gene therapy drugs,summarizes the viral vectors and non-viral vectors that deliver gene therapy drugs,and sums up the application of gene therapy to treat genetic diseases.Additionally,the challenges and opportunities of the field are discussed from the perspective of developing an effective nano-delivery system.

Deep Learning Based Automated Diagnosis of Skin Diseases Using Dermoscopy

Biomedical image analysis has been exploited considerably by recent technology involvements,carrying about a pattern shift towards‘automation’and‘error free diagnosis’classification methods with markedly improved accurate diagnosis productivity and cost effectiveness.This paper proposes an automated deep learning model to diagnose skin disease at an early stage by using Dermoscopy images.The proposed model has four convolutional layers,two maxpool layers,one fully connected layer and three dense layers.All the convolutional layers are using the kernel size of 3∗3 whereas the maxpool layer is using the kernel size of 2∗2.The dermoscopy images are taken from the HAM10000 dataset.The proposed model is compared with the three different models of ResNet that are ResNet18,ResNet50 and ResNet101.The models are simulated with 32 batch size and Adadelta optimizer.The proposed model has obtained the best accuracy value of 0.96 whereas the ResNet101 model has obtained 0.90,the ResNet50 has obtained 0.89 and the ResNet18 model has obtained value as 0.86.Therefore,features obtained from the proposed model are more capable for improving the classification performance of multiple skin disease classes.This model can be used for early diagnosis of skin disease and can also act as a second opinion tool for dermatologists.

Helicobacter pylori and inflammatory skin diseases

Throughout the history of mankind, infections have been the major cause of diseases. Over the last decades, not only the incidence of emerging infectious diseases have increased, but also tremendous strides have been made in understanding the biology of several pathogenic microorganisms. Helicobacter pylori(H. pylori) is a spiral-shaped, gram-negative bacterium, which infects over the half of the world's population. H. pylori has been implicated in the pathogenesis of a number of gastrointestinal disorders. However, new researches have demonstrated that H. pylori is also involved in the pathogenesis of various extragastric diseases. The difference in the clinical outcome of H. pylori infection may be explained, at least in part, by host response to the infection and H. pylori virulence factors. It is obvious that as developments in the research on H. pylori spring up, an understanding of the pathophysiology of H. pylori infection will continue to be identified. Here in this review, we summarize the current knowledge about H. pylori and its association with inflammatory skin diseases.

Ethnomedicinal plants used in the treatment of skin diseases in Hyderabad Karnataka region,Karnataka,India

Objective:To document traditional medicinal plants knowledge used in treating skin diseases at Hyderabad Karnataka Region.Methods:The information on the use of medicinal plants in the treatment of skin diseases was gathered from traditional herbal healers and other villagers through interviews.Results:A total of 60 plants species belonging to 57 genera and 34 families were found useful and herewith described them along with the method of drug preparation,mode of administration,probable dosage and duration of treatment.Several new findings on the traditional rural practices were reported.Conclusions:The present study revealed that the Hyderabad Kamataka rural people is primarily dependent on medicinal plants for treating skin diseases.

Knowledge explosion for monogenic skin diseases

During the past few decades, the investigative technologies of molecular biology- especially sequencing-underwent huge advances, leading to the sequencing of the entire human genome, as well as the identification of several candidate genes and the causative geneticvariations that are responsible for monogenic skin diseases. These advances provided a solid basis for subsequent studies elucidating mechanisms of monogenic skin diseases and improving our understanding of common skin diseases. Furthermore, these discoveries also contributed to the development of novel therapeutic modalities for monogenic skin diseases. In this review, we have used the disease spectrum caused by mutations in the CYLD gene- Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma type 1- as a model for demonstrating the knowledge explosion for this group of diseases.

Clinical Efficacy and Adverse Reactions of Photodynamic Therapy in the Treatment of Malignant Skin Tumors and Precancerous Skin Diseases

The purpose of the study was to investigate the efficacy and safety of photodynamic therapy in the treatment of malignant skin tumors and precancerous skin diseases.First of all,100 patients with malignant skin tumor and pre-cancer skin disease admitted to our hospital from January 20,2018 to September 18,2018 were selected,and all of them adopted photodynamic therapy.The 100 patients included 40 cases of basal cell carcinoma,14 cases of squamous cell carcinoma,7 cases of proliferative erythema,9 cases of Bowen’s disease and 39 cases of solar keratosis.Among the 100 patients,77 cases had excellent curative effect,18 cases had good effect and 5 cases had poor effect,and the overall effective rate was 95%(95/100).After 6 months of follow-up,5 cases of basal cell carcinoma,2 cases of squamous cell carcinoma,0 cases of proliferative erythra,1 case of Bowen’s disease and 3 cases of solar keratosis recurred,with an overall recurrence rate of 14%(14/100).The adverse reactions of pruritus were 90%(90/100),81%(81/100),90%(90/100)and 3%(3/100).Therefore,the application of photodynamic therapy in the treatment of malignant skin tumors and precancerous skin diseases is not only effective,but also safe and not easy to relapse.

Skin diseases in tea collectors

The tea collection is a difficult and laborious task, but few studies have analyzed risks by work activities or the work environment. To investigate the effects of work activities and work environment on tea collectors by looking from dermatological perspective, detailed dermatological examination was performed on tea collectors and clinical backgrounds of the participants were questioned and all findings were noted. The participants clinically suspected for skin, hair and nail infections have been referred to our hospital microbiology laboratory for sampling. The most common diseases in the participants were allergic contact dermatitis, irritant contact dermatitis and acute paronychia. These three diseases accounted for 59.1% of the total diseases in tea collectors. Clinical background story was unremarkable in the vast majority of participants. The current study draws attention to this business area and health problems of tea collectors. The authors think that, use of protective equipment such as masks and gloves during working and receiving of safety training related to their job will decrease work-related health problems of tea collectors.

Interaction between diet and genetics in patients with inflammatory bowel disease

In this editorial,we comment on the article by Marangoni et al,published in the recent issue of the World Journal of Gastroenterology 2023;29:5618-5629,about“Diet as an epigenetic factor in inflammatory bowel disease”.The authors emphasized the role of diet,especially the interaction with genetics,in promoting the inflam-matory process in inflammatory bowel disease(IBD)patients,focusing on DNA methylation,histone modifications,and the influence of microRNAs.In this editorial,we explore the interaction between genetics,gut microbiota,and diet,in an only way.Furthermore,we provided dietary recommendations for patients with IBD.The Western diet,characterized by a low fiber content and deficiency the micronutrients,impacts short-chain fatty acids production and may be related to the pathogenesis of IBD.On the other hand,the consumption of the Mediter-ranean diet and dietary fibers are associated with reduced risk of IBD flares,particularly in Crohn’s disease(CD)patients.According to the dietary guidance from the International Organization for the Study of Inflammatory Bowel Diseases(IOIBD),the regular consumption of fruits and vegetables while reducing the consumption of saturated,trans,dairy fat,additives,processed foods rich in maltodextrins,and artificial sweeteners containing sucralose or saccharine is recommended to CD patients.For patients with ulcerative colitis,the IOIBD recommends the increased intake of natural sources of omega-3 fatty acids and follows the same restrictive recommendations aimed at CD patients,with the possible inclusion of red meats.In conclusion,IBD is a complex and hetero-geneous disease,and future studies are needed to elucidate the influence of epigenetics on diet and microbiota in IBD patients.

Epidemiological Surveillance: Genetic Diversity of Rotavirus Group A in the Pearl River Delta, Guangdong, China in 2019

Objective This study aimed to understand the epidemic status and phylogenetic relationships of rotavirus group A(RVA)in the Pearl River Delta region of Guangdong Province,China.Methods This study included individuals aged 28 days–85 years.A total of 706 stool samples from patients with acute gastroenteritis collected between January 2019 and January 2020 were analyzed for 17 causative pathogens,including RVA,using a Gastrointestinal Pathogen Panel,followed by genotyping,virus isolation,and complete sequencing to assess the genetic diversity of RVA.Results The overall RVA infection rate was 14.59%(103/706),with an irregular epidemiological pattern.The proportion of co-infection with RVA and other pathogens was 39.81%(41/103).Acute gastroenteritis is highly prevalent in young children aged 0–1 year,and RVA is the key pathogen circulating in patients 6–10 months of age with diarrhea.G9P[8](58.25%,60/103)was found to be the predominant genotype in the RVA strains,and the 41 RVA-positive strains that were successfully sequenced belonged to three different RVA genotypes in the phylogenetic analysis.Recombination analysis showed that gene reassortment events,selection pressure,codon usage bias,gene polymorphism,and post-translational modifications(PTMs)occurred in the G9P[8]and G3P[8]strains.Conclusion This study provides molecular evidence of RVA prevalence in the Pearl River Delta region of China,further enriching the existing information on its genetics and evolutionary characteristics and suggesting the emergence of genetic diversity.Strengthening the surveillance of genotypic changes and gene reassortment in RVA strains is essential for further research and a better understanding of strain variations for further vaccine development.

Age-specific heterogeneity of genetic susceptibility to cardiovascular disease might have opposite outcomes depending on the presence of prediabetes

Examining age-specific heterogeneity of susceptibility to cardiovascular disease is also essential in individuals without prediabetes to determine its relative size and direction compared to those with prediabetes.Of particular interest,age-specific heterogeneity in genetic susceptibility may exhibit opposite directions depending on the presence or absence of prediabetes.

Congenital hydrocephalus:a review of recent advances in genetic etiology and molecular mechanisms

The global prevalence rate for congenital hydrocephalus(CH)is approximately one out of every five hundred births with multifaceted predisposing factors at play.Genetic influences stand as a major contributor to CH pathogenesis,and epidemiological evidence suggests their involvement in up to 40%of all cases observed globally.Knowledge about an individual’s genetic susceptibility can significantly improve prognostic precision while aiding clinical decision-making processes.However,the precise genetic etiology has only been pinpointed in fewer than 5%of human instances.More occurrences of CH cases are required for comprehensive gene sequencing aimed at uncovering additional potential genetic loci.A deeper comprehension of its underlying genetics may offer invaluable insights into the molecular and cellular basis of this brain disorder.This review provides a summary of pertinent genes identified through gene sequencing technologies in humans,in addition to the 4 genes currently associated with CH(2 X-linked genes L1CAM and AP1S2,2 autosomal recessive MPDZ and CCDC88C).Others predominantly participate in aqueduct abnormalities,ciliary movement,and nervous system development.The prospective CH-related genes revealed through animal model gene-editing techniques are further outlined,focusing mainly on 4 pathways,namely cilia synthesis and movement,ion channels and transportation,Reissner’s fiber(RF)synthesis,cell apoptosis,and neurogenesis.Notably,the proper functioning of motile cilia provides significant impulsion for cerebrospinal fluid(CSF)circulation within the brain ventricles while mutations in cilia-related genes constitute a primary cause underlying this condition.So far,only a limited number of CH-associated genes have been identified in humans.The integration of genotype and phenotype for disease diagnosis represents a new trend in the medical field.Animal models provide insights into the pathogenesis of CH and contribute to our understanding of its association with related complications,such as renal cysts,scoliosis,and cardiomyopathy,as these genes may also play a role in the development of these diseases.Genes discovered in animals present potential targets for new treatments but require further validation through future human studies.

Cytochrome P450 2E1 genetic polymorphism and gastric cancer in Changle,Fujian Province

AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized questionnaire.PCR-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Polymorphism of CYP2E1 gene may have some effect in the development of gastric cancer in Changle county, Fujian Province.

GSTM1,GSTT1,GSTP1 and CYP1A1 genetic polymorphisms and susceptibility to esophageal cancer in a French population:Different pattern of squamous cell carcinoma and adenocarcinoma

AIM:To evaluate the association between CYP1A1 and GSTs genetic polymorphisms and susceptibility to esophageal squamous cell carcinoma(SCC)and esophageal adenocarcinoma(ADC)in a high risk area of northwest of France. METHODS:A case-control study was conducted to investigate the genetic polymorphisms of these enzymes (CYPIAI*2C and GSTP1 exon 7 Val alleles,GSTMI*2/*2 and GSTTl *2/*2 null genotypes).A total of 79 esophageal cancer cases and 130 controls were recruited. RESULTS:GSTMI*2/*2 and CYPIAI*IA/*2C genotype frequencies were higher among squamous cell carcinomas at a level dose to statistical significance(OR =1.83,95% CI 0.88-3.83,P=0.11;OR=3.03,95% CI 0.93-9.90,P=0.07, respectively).For GSTP1 polymorphism,no difference was found between controls and cases,whatever their histological status.Lower frequency of GSTT1 deletion was observed in ADC group compared to controls with a statistically significant difference(OR=13.31,95% CI 1.66-106.92,P<0.01). CONCLUSION:In SCC,our results are consistent with the strong association of this kind of tumour with tobacco exposure.In ADC,our results suggest 3 distinct hypotheses: (1)activation of exogenous procarcinogens,such as small halogenated compounds by GSTT1;(2)contribution of GSTT1 to the inflammatory response of esophageal mucosa,which is known to be a strong risk factor for ADC, possibly through leukotriene synthesis;(3)higher sensitivity to the inflammatory process associated with intracellular depletion of glutathione.