Familial dilated cardiomyopathy in a child: a case report.

BACKGROUND: Dilated cardiomyopathy (DCM) commonly leads to heart failure (HF) and represents the most common indication for cardiac transplantation in the pediatric population. Clinical manifestations of DCM are mainly the symptoms of heart failure; it is diagnosed by EKG, chest x-ray and echocardiography. For the idiopathic and familial diseases cases of DCM, there are no definite guidelines for treatment in children as they are treated for prognostic improvement. CASE PRESENTATION: We report the case of a 2-year-old girl diagnosed with dilated cardiomyopathy associated with homozygous mutation in the Myosin Light Chain 3 gene admitted for edema in lower extremities, muscle weakness, lethargy and vomiting, and she was found to be in cardiogenic shock. Chest x-ray showed cardiomegaly and EKG showed first degree atrioventricular block. Echocardiogram showed severe biventricular systolic and diastolic dysfunction. After 70 days of hospitalization, the patient went into cardiac arrest with cessation of electrical and mechanical activity of the heart, despite cardiopulmonary resuscitative efforts. CONCLUSION: Although rare, pediatric DCM carries a high risk of morbidity and mortality and a lack of curative therapy.

Investigation of Serum Amphiregulin Concentrations in Pregnant Women Diagnosed with Isolated Fetal Growth Restriction in the Third Trimester.

OBJECTIVE: We aimed to investigate serum amphiregulin (AREG) concentrations in pregnant women with isolated fetal growth restriction (FGR) in the third trimester. MATERIALS AND METHODS: This cross-sectional study was conducted with 90 pregnant women who applied to the Umraniye Training and Research Hospital Gynecology and Obstetrics Clinic between January 2022 and May 2022. The FGR group consisted of 45 pregnant women diagnosed with FGR in the third trimester, and the control group consisted of 45 healthy pregnant women matched with the FGR group in terms of age and body mass index (BMI). Demographic characteristics, ultrasound findings, and neonatal outcomes were noted. As a primary outcome, the two groups were compared for maternal serum AREG concentrations. RESULTS: Both groups were similar in terms of demographic characteristics (p>0.05). While fetal BPD, AC, and FL measurements in the group diagnosed with FGR were significantly lower than in the control group, umbilical artery Doppler PI and S/D were higher (p=0.000, for all). Gestational age at birth, newborn birth weight, birth height, and 1-minute Apgar score were significantly lower and the NICU admission rate was higher in the FGR group (p=0.000, p=0.000, p=0.000, p=0.027, p=0.011 respectively). Gestational age at blood sampling for AREG was similar in both groups (p=0.869). While maternal serum AREG concentration was 969.39 ng/L in the FGR group, it was 795.20 ng/L in the control group (p=0.018). AUC analysis of AREG for estimation of FGR in ROC analysis was 0.57 (p<0.247, 95% CI=0.44-0.69). The optimal threshold value for FGR estimation of maternal serum AREG concentration was determined as 874.03 ng/L with 55% sensitivity and 55% specificity. CONCLUSION: High maternal serum AREG concentrations appear to be associated with isolated FGR in the third trimester. The pathways through which AREG modulates fetal growth remain to be investigated.

Preparation of afterglow and photochromic fibrous mats from polypropylene plastics to detect ultraviolet light.

Polypropylene textiles have been used in the development of various industrial products, such as automotives, plastic furniture, and medical tools. However, polypropylene resists dyeing due to a deficiency of active staining spots. Here, we developed a new strategy towards new afterglow and photochromic fibres from recycled polypropylene plastics using plasma-supported coloration with rare-earth activated aluminate nanoparticles (REANPs). Plasma curing was used to generate active dyeing sites on the polypropylene surface. A thin film of REANPs (2-10 nm) was deposited onto the plasma-pretreated polypropylene surface. Various analytical techniques were applied to inspect the morphology of the REANP-finished polypropylene fibres. The polypropylene dyeing activity was much improved after being exposed to plasma. Both photoluminescence analysis and Commission internationale de l'éclairage (CIE) laboratory coordinates proved that the polypropylene fibres exhibited a white colour in daylight and green in ultraviolet light. The thin afterglow layer immobilized onto the polypropylene surface exhibited an emission band of 524 nm upon excitation at 365 nm. The sliding angles dropped from 12° to 9°, but the contacting angles increased from 139.4° to 145.0° when the REANP ratio was raised. These findings show that REANP-finished polypropylene had good colourfastness, antimicrobial activity, and ultraviolet light blocking. Both stiffness and permeability to air of REANP-finished polypropylene were explored to designate excellent comfort characteristics.

ECG Classification Using an Optimal Temporal Convolutional Network for Remote Health Monitoring.

Increased life expectancy in most countries is a result of continuous improvements at all levels, starting from medicine and public health services, environmental and personal hygiene to the use of the most advanced technologies by healthcare providers. Despite these significant improvements, especially at the technological level in the last few decades, the overall access to healthcare services and medical facilities worldwide is not equally distributed. Indeed, the end beneficiary of these most advanced healthcare services and technologies on a daily basis are mostly residents of big cities, whereas the residents of rural areas, even in developed countries, have major difficulties accessing even basic medical services. This may lead to huge deficiencies in timely medical advice and assistance and may even cause death in some cases. Remote healthcare is considered a serious candidate for facilitating access to health services for all; thus, by using the most advanced technologies, providing at the same time high quality diagnosis and ease of implementation and use. ECG analysis and related cardiac diagnosis techniques are the basic healthcare methods providing rapid insights in potential health issues through simple visualization and interpretation by clinicians or by automatic detection of potential cardiac anomalies. In this paper, we propose a novel machine learning (ML) architecture for the ECG classification regarding five heart diseases based on temporal convolution networks (TCN). The proposed design, which implements a dilated causal one-dimensional convolution on the input heartbeat signals, seems to be outperforming all existing ML methods with an accuracy of 96.12% and an F1 score of 84.13%, using a reduced number of parameters (10.2 K). Such results make the proposed TCN architecture a good candidate for low power consumption hardware platforms, and thus its potential use in low cost embedded devices for remote health monitoring.

Effect of alternate nostril breathing exercise on autonomic functions, ocular hypertension, and quality of life in elderly with systemic hypertension and high-tension primary open-angle glaucoma.

Investigating the response of ocular hypertension and quality of life to a 4-week alternate-nostril breathing exercise (ANBE) in older adults with systemic hypertension (SH) and high-tension form of primary open-angle glaucoma (HTF-POAG) was our aim. Sixty older adults with SH and HTF-POAG were randomly assigned to the ANBE group (n=30, received morning and evening 30 min sessions of daily ANBE) or the control (waitlist) group (n=30). Right-eye intraocular pressure (IOP), left-eye IOP, blood pressure, short-form-36 survey (SF36S), rates of respiration and radial-artery pulsation, hospital anxiety and depression scale (depression subscale abbreviated as HADS-D and anxiety subscale abbreviated as HADS-A), and glaucoma quality-of-life 15-item questionnaire (GQoL-15) were assessed. All measurements were improved in the ANBE group only. In conclusion, a 4-week ANBE could be an adjunctive modality to improve HADS-D, rates of respiration and radial-artery pulsation, HADS-A, blood pressure, IOP, GQol-15, and SF36S in older adults SH and HTF-POAG.

Effect of low-calorie diet on psoriasis severity index, triglycerides, liver enzymes, and quality of life in psoriatic patients with non-alcoholic fatty liver disease.

Introduction: Chronic-plaque psoriasis is a chronic inflammatory dermatological disease. Obesity comorbidities, including non-alcoholic fatty liver disease, are highly prevalent in patients with chronic-plaque psoriasis. Recently, weight loss has been a highly recommended intervention to improve the severity of psoriatic symptoms, psoriasis-induced chronic systemic inflammation, psoriasis-associated cardiovascular risk factors, quality of life, and the efficacy of anti-psoriatic drugs. This study was designed to assess the effect of a 12-week low-calorie-diet intervention on aspartate transaminase, psoriasis severity (assessed via Psoriasis Area and Severity Index - PASI), alanine transaminase, quality of life (assessed via Dermatology Life Quality Index - DLQI), triglycerides, waist circumference (WC), and body mass index (BMI) in class I obese men with chronic-plaque and non-alcoholic fatty liver disease. Material and methods: Sixty men with age ≥ 18 years with class I obesity and with chronic plaque psoriasis and non-alcoholic fatty liver disease were included in the study. All participants were randomly assigned to one of two groups: the first group as the low-calorie-diet group (30 men received immunosuppressive drugs, followed a low-calorie diet, and increased their energy expenditure through a daily 15,000-step outdoor walking program for 12 weeks) and the second as the control group (30 men received immunosuppressive drugs only). The primary outcome consisted of the results of the area and severity index. Weight, BMI, WC, laboratory results such as triglycerides, liver enzymes (alanine transaminase and aspartate transaminase) as well as DLQI were considered as secondary outcomes. Results: While no significant improvements were achieved in the measured variables of the control group, the low-calorie-diet group demonstrated significant improvement in all the measured variables. Conclusions: The results of the present study confirmed that 12-week low-calorie-diet intervention controls BMI, increases the response of psoriasis to pharmacological agents and improves the quality of life. Diet interventions significantly control the elevated hepatic enzymes (aspartate and alanine transaminases) and triglycerides in male patients with chronic-plaque psoriasis and non-alcoholic fatty liver disease.

Disparate age and sex distribution of sessile serrated lesions and conventional adenomas in an outpatient colonoscopy population-implications for colorectal cancer screening?

PURPOSE: Colorectal cancer (CRC) is increasingly diagnosed in individuals aged < 50 years, resulting in advocacy of screening from age 45 years. Despite existing knowledge associating CRC with conventional adenomas, the significance of sessile serrated lesions (SSLs) on the burden of CRC is less detailed. We aimed to provide contemporary estimates for SSL prevalence and examine patient and procedure factors associated with SSL detection. METHODS: Retrospective observational study examining associations between SSL and conventional adenoma detection, polyp histopathology, patient, and procedure characteristics in an outpatient colonoscopy unit over 12 months. RESULTS: From 2097 colonoscopies, SSL detection was 13.8% overall and 12.5% in patients < 50 years. SSLs were mostly proximal in location (64%), and SSL detection was significantly higher in females compared with males (16.2% vs. 11.7%, p = 0.003), particularly in those < 50 years (16.8% vs. 8.6%, p < 0.001). In multivariable analysis, SSL detection was associated with female sex (adjusted odds ratio [aOR] 1.48, 95% confidence interval [CI] 1.15-1.91), synchronous conventional adenoma detection (aOR 1.36, 95% CI 1.04-1.78) and BMI ≥ 25 kg/m2 (aOR 1.34, 95% CI 1.02-1.77). Conventional adenoma detection was 33.6% and associated with age ≥ 50 years (aOR 3.57, 95% CI 2.84-4.47) and synchronous SSL detection (aOR 1.36, 95% CI 1.03-1.79). CONCLUSIONS: We observed age and sex disparities in polyp types and prevalence in this outpatient colonoscopy population. SSLs were most prevalent in females aged < 50 years, suggesting a potential increased susceptibility of young females to SSLs and CRC. Our findings may have implications for the design of CRC screening programs.

Identification of crucial bottlenecks in engineered polyketide biosynthesis.

The concept of combinatorial biosynthesis promises access to compound libraries based on privileged natural scaffolds. Ever since the elucidation of the biosynthetic pathway towards the antibiotic erythromycin A in 1990, the predictable manipulation of type I polyketide synthase megaenzymes was investigated. However, this goal was rarely reached beyond simplified model systems. In this study, we identify the intermediates in the biosynthesis of the polyether monensin and numerous mutated variants using a targeted metabolomics approach. We investigate the biosynthetic flow of intermediates and use the experimental setup to reveal the presence of selectivity filters in polyketide synthases. These obstruct the processing of non-native intermediates in the enzymatic assembly line. Thereby we question the concept of a truly modular organization of polyketide synthases and highlight obstacles in substrate channeling along the cascade. In the search for the molecular origin of a selectivity filter, we investigate the role of different thioesterases in the monensin gene cluster and the connection between ketosynthase sequence motifs and incoming substrate structures. Furthermore, we demonstrate that the selectivity filters do not apply to new-to-nature side-chains in nascent polyketides, showing that the acceptance of these is not generally limited by downstream modules.

Flexible enzymatic activation of artificial polyketide extender units by Streptomyces cinnamonensis into the monensin biosynthetic pathway.

Streptomyces cinnamonensis A495 is a variant of the monensin producer which instead of the native polyether antibiotic gives rise to antibiotic and anti-tumour shunt-product premonensin. Through the supplementation of the fermentation medium with suitable precursors, premonensin can be derivatized via the incorporation of new-to-nature extender units into the biosynthetic machinery. Polyketide extender units require activation, typically in form of coenzyme A-thioesters. These are membrane impermeable and thus in the past an artificial mimic was employed. Here, we show the use and preliminary characterization of a highly substrate promiscuous new enzyme for the endogenous thioester formation in a Streptomyces strain. These intracellularly activated alternative extender units are significantly better incorporated into premonensin than the synthetically activated counterparts. SIGNIFICANCE AND IMPACT OF THE STUDY: Polyketide natural products are of enormous relevance in medicine. The hit-rate in finding active compounds for the potential treatment of various diseases among this substance family of microbial origin is high. However, most polyketides require derivatization to render them suitable for the application. Of relevance in this field is the incorporation of artificial substances into the biogenesis of polyketides, hampered by both the microbial metabolism and the complexity of the enzymes involved. This manuscript describes the straightforward and selective biosynthetic incorporation of synthetic substances into a reduced polyketide and showcases a promising new enzyme to aid this purpose.

Biosynthesis-driven structure-activity relationship study of premonensin-derivatives.

The controlled derivatization of natural products is of great importance for their use in drug discovery. The ideally rapid generation of compound libraries for structure-activity relationship studies is of particular concern. We here use modified biosynthesis for the generation of such a library of reduced polyketides to interfere with the oncogenic KRas pathway. The polyketide is derivatized via side chain alteration, and variations in its redox pattern and in its backbone chain length through manipulation in the corresponding polyketide synthase. Structural and biophysical analyses revealed the nature of the interaction between the polyketides and KRas-interacting protein PDE6δ. Non-natural polyketides with low nanomolar affinity to PDE6δ were identified.

Predicted incorporation of non-native substrates by a polyketide synthase yields bioactive natural product derivatives.

The polyether ionophore monensin is biosynthesized by a polyketide synthase that delivers a mixture of monensins A and B by the incorporation of ethyl- or methyl-malonyl-CoA at its fifth module. Here we present the first computational model of the fifth acyltransferase domain (AT5mon ) of this polyketide synthase, thus affording an investigation of the basis of the relaxed specificity in AT5mon , insights into the activation for the nucleophilic attack on the substrate, and prediction of the incorporation of synthetic malonic acid building blocks by this enzyme. Our predictions are supported by experimental studies, including the isolation of a predicted derivative of the monensin precursor premonensin. The incorporation of non-native building blocks was found to alter the ratio of premonensins A and B. The bioactivity of the natural product derivatives was investigated and revealed binding to prenyl-binding protein. We thus show the potential of engineered biosynthetic polyketides as a source of ligands for biological macromolecules.

Extraction, purification, kinetic and thermodynamic properties of urease from germinating Pisum Sativum L. seeds.

BACKGROUND: Urease, one of the highly efficient known enzymes, catalyzes the hydrolysis of urea into ammonia and carbon dioxide. The present study aimed to extract urease from pea seeds (Pisum Sativum L). The enzyme was then purified in three consequence steps: acetone precipitation, DEAE-cellulose ion-exchange chromatography, and gel filtration chromatography (Sephacryl S-200 column). RESULTS: The purification fold was 12.85 with a yield of 40%. The molecular weight of the isolated urease was estimated by chromatography to be 269,000 Daltons. Maximum urease activity (190 U/g) was achieved at the optimum conditions of 40°C and pH of 7.5 after 5 min of incubation. The kinetic parameters, Km and Vmax, were estimated by Lineweaver-Burk fits and found to be 500 mM and 333.3 U/g, respectively. The thermodynamic constants of activation, ΔH, Ea, and ΔS, were determined using Arrhenius plot and found to be 21.20 kJ/mol, 23.7 kJ/mol, and 1.18 kJ/mol/K, respectively. CONCLUSIONS: Urease was purified from germinating Pisum Sativum L. seeds. The purification fold, yield, and molecular weight were determined. The effects of pH, concentration of enzyme, temperature, concentration of substrate, and storage period on urease activity were examined. This may provide an insight on the various aspects of the property of the enzyme. The significance of extracting urease from different sources could play a good role in understanding the metabolism of urea in plants.

The effect of chloride and sulfate ions on the adsorption of Cd2+ on clay and sandy loam Egyptian soils.

Adsorption of Cd(2+) on two types of Egyptian soils: clay (alluvial) and sandy loam (calcareous), was studied. Effect of changing the matrix electrolyte type and concentration was used to mimic the natural soil salts. Kinetics and thermodynamic parameters of the adsorption were calculated at two different electrolyte concentrations: 0.05 N and 0.15 N. The adsorption was described by Langmuir and Freundlich isotherms. Results showed that lower concentration of the NaCl or Na2SO4 electrolytes (0.05 N) had higher adsorption capacity. Also, the maximum adsorption of cadmium when using sulfate counter ion is about two to three times higher than that when using chloride (544 µg/g for alluvial soil and 170 µg/g for calcareous soil when using 0.05 N). Using NaCl as matrix electrolyte, Freundlich isotherms showed bi-linear fits that probably mean a two energy level adsorption. This might be explained by either the competition of Cd(2+) with Na(+) or its complexation with Cl(-).

Erectile dysfunction and metabolic syndrome components in obese men with psoriasis: response to a 12-week randomized controlled lifestyle modification program (exercise with diet restriction).

BACKGROUND: Erectile dysfunction (ED) and metabolic syndrome (MeTS) are highly prevalent in chronic plaque psoriasis (CPP). OBJECTIVE: The aim of this lifestyle modification study is to explore the response of MeTS components and ED to a 12-week lifestyle modification program (low-calorie diet and moderate-intensity treadmill walking) in 60 obese men with CPP, mild and moderate ED, and MeTS. THE DESIGN, SETTINGS, PARTICIPANTS, AND INTERVENTION: In this lifestyle modification randomized study, a university-based hospital recruitment of 60 obese men with CPP, mild and moderate ED, and MeTS was randomly performed. Men were randomly assigned to the lifestyle modification group (n = 30, received low-calorie diet and moderate-intensity treadmill walking programs) or waitlist group (n = 30). The following outcomes were assessed as follows: body mass index, psoriasis severity (assessed via psoriasis area and severity index), ED (assessed by the five-item internal index of erectile function), and components of MeTS (waist circumference, blood pressure, serum high-density lipoprotein, serum triglycerides, and serum fasting blood glucose). RESULTS: Trends of significant improvements in all outcomes were documented in favor of the lifestyle modification group. All outcomes of the waitlist group did not show the same reported significant improvements of the lifestyle modification group. CONCLUSION: A 12-week lifestyle modification program as a tool for weight loss in obese men with CPP is a good therapeutic method to improve psoriasis severity and psoriasis-associated ED and MeTS.

Psychometric properties of the Arabic version of the everyday memory questionnaire - revised (EMQ-R) among the Lebanese population.

Objective: This study aimed to evaluate the psychometric properties of the Arabic version of the Everyday Memory Questionnaire- Revised (EMQ-R-A) in a sample of Lebanese adults. Methods: A cross-sectional study was conducted in August 2023. A diverse sample of 483 Lebanese adults aged 18 to 60 years from all Lebanese governorates was recruited. Participants completed an Arabic-language questionnaire comprising three sections: socio-demographic characteristics, health-related inquiries, the EMQ-R-A and the Arabic version of the Prospective and Retrospective Memory Questionnaire (PRMQ). Results: The study's findings indicated that the EMQ-R-A displayed strong internal consistency (Cronbach's alpha = 0.925). Convergent validity was supported by a significant correlation with PRMQ. Test-retest results demonstrated strong reliability with a Cronbach's alpha of 0.925. Confirmatory factor analysis revealed a three-factor model including retrieval related factors, attentional tracking related factors, and other factors. The factors labeled "Retrieval" and "Attentional Tracking" elucidate aspects of memory retrieval system efficacy and attention-related challenges. Higher EMQ-R-A scores were found to be associated with the female gender, lower attention, physical inactivity, lower educational levels, and higher number of comorbid disorders. Conclusion: The EMQ-R-A exhibits good validity and reliability. The identified factors associated with memory decline underscore the importance of addressing lifestyle factors, such as promoting physical activity, better educational attainment, and addressing comorbid health conditions, to potentially mitigate memory challenges.

Integrated neuromuscular inhibition technique versus spray and stretch technique in neck pain patients with upper trapezius trigger points: a randomized clinical trial.

OBJECTIVE: This study aimed to investigate the difference between the integrated neuromuscular inhibition technique (INIT) and spray and stretch technique in patients with neck pain and upper trapezius active trigger points. Methods: A convenience sample of 60 patients with neck pain and active trigger points were recruited from physiotherapy students and allocated randomly to three groups INIT plus stretching exercise spray and stretch technique plus stretching exercise, and stretching exercise only. Treatment was three times per week for four weeks. Pain intensity by visual analogue scale (VAS), pain pressure threshold (PPT), neck disability by Arabic neck disability index (ANDI), and muscle amplitude in the form of root mean square (RMS) by electromyography (EMG) were measured at baseline and after four weeks. Results: Between groups analysis; the results revealed statistical significant difference between three groups after four weeks of intervention as p =0.0001. Within the group analysis, post hoc tests reported improvement at all variables in both INIT and spray and stretch technique groups with mean differences 64.5 and 65.1 in VAS, 20 and 18.15 in ANDI, -1.45 and -0.81 in PPT, and 2.47 and 1.88 in muscle amplitude, respectively. But there was no statistically significant difference in stretching only group in all variables except VAS. CONCLUSION: Both INIT and spray and stretch techniques had a clinical and statistical effects on pain, function, PPT, and RMS. According to results, there were statistical significant differences between INIT and spray and stretch groups at post-treatment in all variables except VAS with more favor to INIT group, but there were no clinical differences between INIT and spray and stretch groups.