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1.
Animals (Basel) ; 13(23)2023 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-38067059

RESUMO

This study investigated the effects of puncture vine (Tribulus Terrestris) addition on the performance, carcass and meat characteristics, selected metabolic and immunological blood indicators, some microbiota, and short-chain fatty acids. A total of 252 1-day-old broilers were distributed to three treatments with 12 cages as replicates per treatment (T1 = 0.0%, T2 = 0.08%, and T3 = 0.16% puncture vine). Performance parameters and metabolic and immunological serum indicators were measured in each feeding phase, while carcass characteristics, meat quality, cecal microflora, and short-chain fatty acids were measured at 35 days. Results showed that live weight, weight gain, production efficiency, and meat component color were lower in initial and ultimate at T3, while the percentages of the legs and gizzard were higher at T2 than T1. The relative weight of cooking loss was higher in T2 and T3, but the myofibril fragmentation index was lower than T1. Total protein and globulin were higher in T2 and T3 (14 days old), and the glucose level was lower in T2 (35 days old) than at T1. Interleukins (IL-4, IL-6, and IL-10) and tumor necrosis factor-α (TNF-α) were higher in T2 than T1 and T3 (35 days old). Puncture vine has antimicrobial activity against Escherichia coli and Salmonella spp., while Lactobacillus spp. was higher in T2. The total short-chain fatty acid content was higher in chickens fed puncture vine. These results indicate that the use of puncture vine powder as a natural alternative at a dosage of 0.08% has a safe effect on the performance, carcass and meat characteristics, and health of broilers.

2.
Biomolecules ; 13(12)2023 11 21.
Artigo em Inglês | MEDLINE | ID: mdl-38136554

RESUMO

COVID-19, caused by the SARS-CoV-2 virus, manifests with a wide range of clinical symptoms that vary from mild respiratory issues to severe respiratory distress. To effectively manage and predict the outcomes of the disease, it is important to understand the molecular mechanisms underlying its severity. This study focuses on analyzing and comparing the expression patterns of microRNAs (miRNAs) in serum, urine, and nasopharyngeal samples from patients with mild, moderate, and severe COVID-19. The aim is to identify potential associations with disease progression and discover suitable markers for diagnosis and prognosis. Our findings indicate the consistent upregulation of miR-21, miR-146a, and miR-155 in urine, serum, and nasopharyngeal samples from patients with mild COVID-19. In moderate cases, there were more significant changes in miRNA expression compared to mild cases. Specifically, miR-let-7 demonstrated upregulation, while miR-146b exhibited downregulation. The most notable alterations in miRNA expression profiles were observed in severe COVID-19 cases, with a significant upregulation of miR-223. Moreover, our analysis using Receiver-operating characteristic (ROC) curves demonstrated that miR-155, miR-let-7, and miR-223 exhibited high sensitivity and specificity, suggesting their potential as biomarkers for distinguishing COVID-19 patients from healthy individuals. Overall, this comparative analysis revealed distinct patterns in miRNA expression. The overlapping expression patterns of miRNAs in urine, serum, and nasopharyngeal samples suggest their potential utility in discriminating disease status.


Assuntos
COVID-19 , MicroRNAs , Humanos , COVID-19/diagnóstico , COVID-19/genética , SARS-CoV-2/genética , SARS-CoV-2/metabolismo , MicroRNAs/metabolismo , Biomarcadores , Curva ROC
3.
Case Rep Urol ; 2023: 9935247, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37841831

RESUMO

Unlike female genital mutilation, the alteration of male genitals has not received much attention. Circumcision is the most common and oldest surgical procedure being performed. When performed by surgeons or well-trained personal the procedure is safe, but most of the times it is being performed by untrained people with no or little medical background. This has led to many complications. Total skin loss is an uncommon but serious complication. There is an ongoing debate regarding the management of this complication. Here, we present a case of total penile skin loss which had resulted from penile mutilation in the name of ritual circumcision.

4.
Foods ; 12(16)2023 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-37628023

RESUMO

Convection drying in combination with ultrasound pretreatment has emerged as a promising technology for seafood manufacturing. The primary objective of this research was to model the mass transfer process of Asian seabass (Lates calcarifer) fish skin without and with ultrasound pretreatment during convection drying at different temperatures (45, 55, and 65 °C). Additionally, the study aimed to examine the impact of ultrasound pretreatment and temperatures on the drying characteristics and specific energy consumption for drying of Asian seabass fish skin. Seven semi-theoretical models, namely Lewis, Page, modified Page, Vega-Lemus, Verma, Henderson and Pabis, and two-term models, were employed to characterize the moisture transfer process. The results of the study indicated a decrease in the moisture content as the drying time increased at different drying temperatures. Higher drying temperatures were associated with an increased drying rate. Among the mathematical models tested, the modified Page model provided a satisfactory description of the thin-layer drying characteristics of fish skin. Fick's law of diffusion was utilized to determine the effective moisture diffusivities. Comparing the drying of fish skin without (SS) and with ultrasound pretreatment (US-SS), the drying of the latter generally showed higher Deff values. The temperature dependence of the effective diffusivity coefficient was well described by the Arrhenius-type model. An increase in the drying temperature resulted in an increment of the effective moisture diffusivity. In general, the skin pretreated using ultrasound had a reduced drying time, by up to 28%. Additionally, this approach contributed to an approximate 22% reduction in the specific energy consumption, concurrently enhancing the energy efficiency. The microstructure analysis showed that fresh and dried US-SS samples had a more open structure and higher porosity, in comparison to the corresponding SS samples. These findings contribute to the knowledge on the application of ultrasound as the pretreatment of fish skin before drying and provide valuable insights for the development of potential drying techniques in the seafood industry.

5.
Foods ; 12(13)2023 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-37444300

RESUMO

The aim of this review is to investigate the basic principles of red meat cooking technologies, including traditional and modern methods, and their effects on the physical, thermal, mechanical, sensory, and microbial characteristics of red meat. Cooking methods were categorized into two categories: traditional (cooking in the oven and frying) and modern (ohmic, sous vide, and microwave cooking). When red meat is subjected to high temperatures during food manufacturing, it undergoes changes in its engineering and quality attributes. The quality standards of meat products are associated with several attributes that are determined by food technologists and consumers based on their preferences. Cooking improves the palatability of meat in terms of tenderness, flavor, and juiciness, in addition to eliminating pathogenic microorganisms. The process of meat packaging is one of the important processes that extend the life span of meat and increase its shelf life due to non-exposure to oxygen during cooking and ease of handling without being exposed to microbial contamination. This review highlights the significance of meat cooking mathematical modeling in understanding heat and mass transfer phenomena, reducing costs, and maintaining meat quality. The critical overview considers various production aspects/quality and proposed methods, such as, but not limited to, hurdle technology, for the mass production of meat.

6.
Foods ; 13(1)2023 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-38201120

RESUMO

Moisture adsorption and desorption isotherms of gelatin extracted from whitefish skin powder (FSGP) at different temperatures across a wide range of water activity were determined along with their thermodynamic properties. Nine mathematical models were utilized for fitting the experimental data and simulating the adsorption and desorption behavior. The thermodynamic properties were determined and fitted to the experimental data. The results showed that Peleg and GAB models were the best fit for FSGP. The energies involved in the adsorption and desorption process of FSGP indicated a stronger dependence on equilibrium moisture content (Xe). When Xe decreased, there was a consistent trend of increasing thermodynamic properties. Both the moisture adsorption and desorption behaviors of FSGP were, therefore, non-spontaneous processes. Linear correlations between the changes in enthalpy and entropy for adsorption and desorption were observed, indicating the presence of enthalpy-entropy compensation for FSGP. For preserving FSGP quality, it should be stored with Xw ≤ 8 (gw/gdm, d.b.) at temperatures below 53 °C and an RH of 50% to avoid it becoming rubbery. These findings are crucial for providing insight into the optimal drying and storage conditions.

7.
Hum Antibodies ; 31(4): 89-98, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38217589

RESUMO

BACKGROUND: World-wide Colorectal cancer (CRC) is the third most common cancer with one million new cases a year. Historically, a higher incidence of this disease has been recorded among the elderly in the western countries, but it is increasing in developing countries and in younger age groups. AIM: This study aims to find whether CRC cancer is progressively affecting the younger age groups known as early onset (< 50 years). In addition, it describes the pathological characteristics of CRC in early onset CRC cases. METHOD: The study is retrospective cross-sectional. It was conducted over a period of five months from October 1st 2019 till 1st March 1st 2020. Data were drawn from patients with CRC from their medical records at Kirkuk Oncology Centre (KOC) and from the IRAQI National CANCER REGISTRY (INCR) over thirteen years period from 2006 to 2018. The basic data we obtained for each patient include sex, age, and stage, grade of the disease at diagnosis and mode of presentation. RESULTS: The Initial study population included 654 patients of both genders and all ages. CRC occurred in < 5.5/100,000 population per year which accounted for < 8% of total malignancies (2006-2018). The patients were divided into two groups; an early onset (< 50 years) group and a late onset CRC (⩾ 50 years) group. The final study population provided enough data for 238 patients for the years (2014-2018) with an age range of 20-91 and a mean of 54.4 years. The males were ∼54% while ∼46% were females. The age group under 50 years (early onset CRC) was ∼41% (no 98) while those who are 50 years and older (late onset) stood for 59% (no 140). There were no statistical differences between the two age groups regarding stage, grade, or presenting symptom. CONCLUSION: CRC is common in early onsets or young age groups with similar pathological characteristics to those of the late onset cancer. Accordingly, even mild lower gastrointestinal symptoms should be taken seriously. The study points toward an increasing awareness of the population on the importance of colorectal cancer. Also, conducting more surveillance studies and investigations would be recommended for early detections of the disease in young populations.


Assuntos
Neoplasias Colorretais , Humanos , Masculino , Feminino , Idoso , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Neoplasias Colorretais/epidemiologia , Estudos Retrospectivos , Iraque/epidemiologia , Estudos Transversais , Incidência
8.
Pak J Biol Sci ; 25(6): 531-536, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36098188

RESUMO

<b>Background and Objectives:</b> Bacterial cellulose (BC) is a microbial extracellular biopolymer formed by microbial strains like <i>Gluconacetobacter xylinus</i>. The objective of this study was to determine the antioxidant and anticoagulant of a microbial nano cellulose-ZnO-Ag (CNCs) composite and its components separately. <b>Materials and Methods:</b> Three components were used for nano cellulose-ZnO-Ag composite synthesis, Ag-nanoparticles, ZnO-nanoparticles and BC. The DPPH method was used to calculate the scavenging of free radical behaviour of four different composite samples. <b>Results:</b> Results of silver nanoparticles were found to have the highest antioxidant activity with IC<sub>50</sub> 65 µg mL<sup></sup><sup>1</sup>, followed by CNCs-ZnO-Ag composite (IC<sub>50</sub> 88.98 µg mL<sup></sup><sup>1</sup>) but ZnONPs IC<sub>50</sub> was 263 µg mL<sup></sup><sup>1</sup> and BC (IC<sub>50</sub> 955 µg mL<sup></sup><sup>1</sup>). The CNCs-ZnO-Ag composite, BC and AgNPs at 25 µg mL<sup></sup><sup>1</sup> had clotting times that were nearly identical to the control. The APTT increased to 56 Sec at 75 µg mL<sup></sup><sup>1</sup> of CNCs-ZnO-Ag composite related to control that recorded 33 Sec. <b>Conclusion:</b> Bacterial cellulose acquired new activity in nano form and also when conjugated with nanoparticles. The CNCs-ZnO-Ag composite is ready for pharmaceutical application as an antioxidant and anticoagulant after <i>in vivo</i> study.


Assuntos
Nanopartículas Metálicas , Óxido de Zinco , Anticoagulantes/farmacologia , Antioxidantes/farmacologia , Bactérias , Celulose , Prata
9.
Materials (Basel) ; 15(14)2022 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-35888515

RESUMO

Zinc sulfide (ZnS) nanoparticles were fabricated using the chemical precipitation method. The X-ray diffraction (XRD), Raman spectroscopy, and scanning electron microscopy (SEM) techniques were used to investigate the structural parameters of the formed ZnS. The hexagonal crystal structure of the Zn and ZnS phases was formed. The average crystallite size of the ZnS phase is 10.3 nm, which is much smaller than that of the Zn phase (54.5 nm). Several frequencies and phonon modes were detected in the Raman scattering spectrum belonging to the ZnS nanoparticles. The synthesized ZnS nanoparticles were used as catalysts to eliminate the Congo red (CR) dye, with different concentrations, from synthetic wastewater. The impact of the CR dye concentration and shaking period on the adsorption of CR was thoroughly investigated, and various adsorption kinetic models were tested. After 3 h of shaking, the adsorption efficiency reached 26.01% for 40 mg/L CR dye and 27.84% for 20 mg/L CR dye. The adsorption capacities of the CR dye in the presence of ZnS are 16% and 9% for 40 and 20 mg/L, respectively. Based on the correlation factor, the intraparticle diffusion kinetic model was considered the best of the tested models.

10.
Urol Case Rep ; 41: 101976, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34917480

RESUMO

The penetrating scrotal trauma is rare in children. Due to low incidence of penetrating scrotal injuries in children, the evaluation and management of this type of injuries has not been well described. To prevent the long term sequalae and complications all such injuries require a prompt surgical exploration and management. We are reporting a five-year-old boy with a penetrating injury in his scrotum due to a bamboo stick. After the stabilization and lab and radiological workup patient was subjected to surgical exploration. Inspite of the severity of the trauma the testis and the spermatic cord were spared of any injury.

11.
J Food Sci ; 85(9): 2843-2851, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32790195

RESUMO

The U.S. Army and NASA need ready-to-eat meals with extended shelf-life for military operations and future manned space missions. For traditional heat sterilization methods, aluminum foil laminated pouches are used to achieve a shelf-life of 3 to 5 years at room temperature. However, those packages are not suited for advanced thermal processing technologies based on microwave energy. This research investigated the effect of polymeric packaging materials on storage stability of garlic flavor, vitamin C, and color of garlic mashed potatoes processed with microwave-assisted thermal sterilization (MATS) technology. Three types of high-barrier metal oxide-coated polymer pouches were used for MATS process, designed to achieve lethality approximately F0 = 6 min. Aluminum foil-based pouches were used for retort process as control. Results demonstrated that both oxygen and water vapor barrier properties (oxygen transmission rate [OTR] and water vapor transmission rate [WVTR]) of the polymer pouches were affected by MATS processing. OTR increased by three to nine times, while WVTR increased by 5 to 20 times after processing. The MATS process resulted in 13% to 16% vitamin C loss, while retort process resulted in 18% loss in garlic mashed potato. The kinetics of vitamin C indicated that metal oxide-coated high-barrier packages (after processing OTR <0.1 cc/m2 .day; WVTR <1.0 g/m2 .day) could replace aluminum foil-based pouches for MATS processed shelf-stable ready-to-eat garlic mashed potatoes. PRACTICAL APPLICATION: Garlic mashed potatoes in polymer packages processed in a microwave-assisted thermal sterilization (MATS) system had better retention of vitamin C compared to samples packaged in aluminum laminated pouches and processed in retort. Polymer packages combined with MATS processing could potentially provide safe, better quality, and nutritious shelf-stable food products for military and space missions.


Assuntos
Ácido Ascórbico/química , Fast Foods/análise , Embalagem de Alimentos/instrumentação , Alho/química , Pasteurização/métodos , Solanum tuberosum/química , Cor , Aromatizantes/análise , Temperatura Alta , Humanos , Micro-Ondas , Odorantes/análise , Pasteurização/instrumentação , Polímeros/química , Vapor/análise , Paladar
12.
Asian Pac J Cancer Prev ; 21(8): 2271-2280, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32856855

RESUMO

BACKGROUND: The X-chromosome has been suggested to play a role in prostate cancer (PrCa) since epidemiological studies have provided evidence for an X-linked mode of inheritance for PrCa based on the higher relative risk among men who report an affected brother(s) as compared to those reporting an affected father. The aim of this study was to examine the potential association between the forensic STR markers located at four regions Xp22.31, Xq11.2-12, Xq26.2, and Xq28 and the risk of BPH and PrCa to confirm the impact of ChrX in the PrCa incidence. This may be helpful in the incorporation of STRs genetic variation in the early detection of men population at risk of developing PrCa. METHODS: DNA samples from 92 patients and 156 healthy controls collected from two medical centers in Riyadh, Saudi Arabia were analyzed for four regions located at X-chromosome using the Investigator® Argus X-12 QS Kit. RESULTS: The results demonstrated that microvariant alleles of (DXS7132, DXS10146, HPRTB, DXS10134, and DXS10135) are overrepresented in the BPH group (p < 0.00001). Allele 28 of DXS10135 and allele 15 of DXS7423 could have a protective effect, OR 0.229 (95%CI, 0.066-0.79); and OR 0.439 (95%CI, 0.208-0.925). On the other hand, patients carrying allele 23 of DXS10079 and allele 26 of DXS10148 presented an increased risk to PrCa OR 4.714 (95%CI, 3.604-6.166). CONCLUSION: The results are in concordance with the involvement of the X chromosome in PrCa and BPH development. STR allele studies may add further information from the definition of a genetic profile of PrCa resistance or susceptibility. As TBL1, AR, LDOC1, and RPL10 genes are located at regions Xp22.31, Xq11.2-12, Xq26.2, and Xq28, respectively, these genes could play an essential role in PrCa or BPH.


Assuntos
Cromossomos Humanos X/genética , Repetições de Microssatélites , Proteínas Nucleares/genética , Neoplasias da Próstata/patologia , Receptores Androgênicos/genética , Proteína Ribossômica L10/genética , Transducina/genética , Proteínas Supressoras de Tumor/genética , Biomarcadores Tumorais/genética , Estudos de Casos e Controles , Seguimentos , Predisposição Genética para Doença , Variação Genética , Genética Populacional , Humanos , Masculino , Prognóstico , Hiperplasia Prostática/epidemiologia , Hiperplasia Prostática/genética , Hiperplasia Prostática/patologia , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/genética , Arábia Saudita/epidemiologia
13.
Future Sci OA ; 6(2): FSO440, 2020 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-32025329

RESUMO

Candida albicans has remained the main etiological agent of candidiasis, challenges clinicians with high mortality and morbidity. The emergence of resistance to antifungal drugs, toxicity and lower efficacy have all contributed to an urgent need to develop alternative drugs aiming at novel targets in C. albicans. Targeting the production of virulence factors, which are essential processes for infectious agents, represents an attractive substitute for the development of newer anti-infectives. The present review highlights the recent developments made in the understanding of the pathogenicity of C. albicans. Production of hydrolytic enzymes, morphogenesis and biofilm formation, along with their molecular and metabolic regulation in Candida are discussed with regard to the development of novel antipathogenic drugs against candidiasis.

14.
J Cosmet Dermatol ; 19(5): 1131-1136, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31468687

RESUMO

INTRODUCTION: The use of sunscreen is an important preventive measure against skin cancer and treatment for other skin conditions. There is evidence pointing to lack awareness and misconceptions regarding use of Sunscreen. This is especially evident in populations with skin of color (POC). METHODS: This is a cross-sectional study of 2000 individuals. A structured questionnaire was designed to collect data on general knowledge and use of sunscreen as well as reasons for stopping use of sunscreen. RESULTS: The results of this study indicate a clear deficiency in the use and knowledge about sunscreen among Jordanians. Females are using sunscreen more than males. However, the use of sunscreen is inadequate in many aspects including timing of application, frequency of use, and amount used among other things. There is an obvious lack of knowledge about sunscreen as shown by lack of awareness about benefits of use in various times of the year, use in children, use for all skin types, and several misconceptions among other knowledge gaps. Main reasons for stopping sunscreen include side effects, cost, and being not suitable for skin. Awareness about sunscreen can be improved by proper counseling by healthcare professionals and utilization of various media platforms. CONCLUSIONS: The use of sunscreen is inadequate in this population of color (POC). Lack of proper counseling, failure to read use instructions can contibute to inadequate use of sunscreen. Risks and benefits of sunscreen should be explained by medical professionals. The media should be more utilized to disseminate such knowledge.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Neoplasias Cutâneas/prevenção & controle , Pigmentação da Pele/fisiologia , Queimadura Solar/prevenção & controle , Protetores Solares/administração & dosagem , Adulto , Estudos Transversais , Feminino , Humanos , Disseminação de Informação , Jordânia , Masculino , Rotulagem de Produtos , Fatores Sexuais , Pele/efeitos dos fármacos , Pele/efeitos da radiação , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologia , Pigmentação da Pele/efeitos dos fármacos , Pigmentação da Pele/efeitos da radiação , Queimadura Solar/etiologia , Queimadura Solar/patologia , Luz Solar/efeitos adversos , Inquéritos e Questionários/estatística & dados numéricos
15.
Saudi J Biol Sci ; 26(7): 1607-1612, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31762634

RESUMO

BACKGROUND: DNA prediction of eye color represent one application of the externally visible characteristics (EVC), which attained growing interest in the field of DNA forensic phenotyping. This is mainly due to its ability to narrow the pool of suspects without the need to compare any retrieved DNA material from the crime scene to a reference DNA. Several methods and multiplex genetic panel were proposed with variable prediction accuracy between different populations. However, such panel was not previously tested in the Saudi population, nor any populations of the Middle East and North Africa origin. METHOD: A panel of eleven single nucleotide polymorphisms (SNPs) was tested for their association with three eye colors (brown, hazel, and intermediate) in 80 volunteer Saudi individuals. SNPs and haplotype association test with eye colors were performed to identify the top significant SNPs with the three eye colors. Also, multinomial logistic regression was used to construct the prediction model using a training set of 60 subjects, and a validation set of 20 subjects. The goodness of fit parameter of the model to correctly predicts each eye color as compared to the other was performed. RESULTS: Eye color was significantly associated with rs12913832, rs7170852, and rs916977 that are located within HERC2. SNP rs12913832 was the top significant SNP (p-value = 1.78E-15) that accounted for the association in this region, as the other SNPs were not significant after adjusting for rs12913832. A prediction model containing five SNPs showed high prediction accuracy with Area Under the receiver operating characteristic Curves (AUC) equals to 0.95 and 0.83 for brown and intermediate eye colors, respectively. However, the model's performance was very low for predicting the hazel eye color with AUC equals 0.75. DISCUSSION: Despite the small sample size of our study, we reported very significant SNP associations with eye color. Our model to predict eye colors based on DNA material showed high accuracy for brown and intermediate eye colors. The eye color prediction-model underperformed for the hazel eye colors, suggesting that larger sample size, as well as more comprehensive set of SNPs, could improve the model-prediction accuracy.

16.
Circ Genom Precis Med ; 12(9): 375-385, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31454269

RESUMO

BACKGROUND: CaM (calmodulin) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy) and are most often de novo. In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin mutations and to investigate mosaicism in 2 affected families. METHODS: CaM mutations were identified in 4 independent cases by DNA sequencing. Biochemical and electrophysiological studies were performed to determine functional consequences of each mutation. RESULTS: Genetic studies identified 2 novel CaM variants (CALM3-E141K in 2 cases; CALM1-E141V) and one previously reported CaM pathogenic variant (CALM3-D130G) among 4 probands with shared clinical features of prolonged QTc interval (range 505-725 ms) and documented ventricular arrhythmia. A fatal outcome occurred for 2 of the cases. The parents of all probands were asymptomatic with normal QTc duration. However, 2 of the families had multiple affected offspring or multiple occurrences of intrauterine fetal demise. The mother from the family with recurrent intrauterine fetal demise exhibited the CALM3-E141K mutant allele in 25% of next-generation sequencing reads indicating somatic mosaicism, whereas CALM3-D130G was present in 6% of captured molecules of the paternal DNA sample, also indicating mosaicism. Two novel mutations (E141K and E141V) impaired Ca2+ binding affinity to the C-domain of CaM. Human-induced pluripotent stem cell-derived cardiomyocytes overexpressing mutant or wild-type CaM showed that both mutants impaired Ca2+-dependent inactivation of L-type Ca2+ channels and prolonged action potential duration. CONCLUSIONS: We report 2 families with somatic mosaicism associated with arrhythmogenic calmodulinopathy, and demonstrate dysregulation of L-type Ca2+ channels by 2 novel CaM mutations affecting the same residue. Parental mosaicism should be suspected in families with unexplained fetal arrhythmia or fetal demise combined with a documented CaM mutation.


Assuntos
Arritmias Cardíacas/genética , Calmodulina/genética , Mosaicismo , Arritmias Cardíacas/congênito , Arritmias Cardíacas/metabolismo , Arritmias Cardíacas/fisiopatologia , Sequência de Bases , Cálcio/metabolismo , Calmodulina/metabolismo , Pré-Escolar , Eletrofisiologia , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Linhagem
17.
Eur Heart J ; 40(35): 2964-2975, 2019 09 14.
Artigo em Inglês | MEDLINE | ID: mdl-31170290

RESUMO

AIMS: Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1-3) that encode identical calmodulin proteins. We established the International Calmodulinopathy Registry (ICalmR) to understand the natural history, clinical features, and response to therapy of patients with a CALM-mediated arrhythmia syndrome. METHODS AND RESULTS: A dedicated Case Report File was created to collect demographic, clinical, and genetic information. ICalmR has enrolled 74 subjects, with a variant in the CALM1 (n = 36), CALM2 (n = 23), or CALM3 (n = 15) genes. Sixty-four (86.5%) were symptomatic and the 10-year cumulative mortality was 27%. The two prevalent phenotypes are long QT syndrome (LQTS; CALM-LQTS, n = 36, 49%) and catecholaminergic polymorphic ventricular tachycardia (CPVT; CALM-CPVT, n = 21, 28%). CALM-LQTS patients have extremely prolonged QTc intervals (594 ± 73 ms), high prevalence (78%) of life-threatening arrhythmias with median age at onset of 1.5 years [interquartile range (IQR) 0.1-5.5 years] and poor response to therapies. Most electrocardiograms (ECGs) show late onset peaked T waves. All CALM-CPVT patients were symptomatic with median age of onset of 6.0 years (IQR 3.0-8.5 years). Basal ECG frequently shows prominent U waves. Other CALM-related phenotypes are idiopathic ventricular fibrillation (IVF, n = 7), sudden unexplained death (SUD, n = 4), overlapping features of CPVT/LQTS (n = 3), and predominant neurological phenotype (n = 1). Cardiac structural abnormalities and neurological features were present in 18 and 13 patients, respectively. CONCLUSION: Calmodulinopathies are largely characterized by adrenergically-induced life-threatening arrhythmias. Available therapies are disquietingly insufficient, especially in CALM-LQTS. Combination therapy with drugs, sympathectomy, and devices should be considered.


Assuntos
Arritmias Cardíacas/genética , Análise Mutacional de DNA , Variação Genética/genética , Sistema de Registros , Idade de Início , Arritmias Cardíacas/mortalidade , Calmodulina/genética , Criança , Pré-Escolar , Morte Súbita Cardíaca/etiologia , Feminino , Humanos , Síndrome do QT Longo/genética , Fenótipo , Taxa de Sobrevida , Taquicardia Ventricular/genética
18.
Tob Induc Dis ; 17: 87, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31889949

RESUMO

INTRODUCTION: The prevalence of waterpipe smoking is increasing globally. The involvement of waterpipe smoking as an independent risk factor for the development of myocardial infarction is an area in need of further research. Our study examines the possible relationship between waterpipe smoking and myocardial infarction. METHODS: In this incident case-control study, we enrolled 148 cases with myocardial infarction and 148 participants in the control group. Using logistic regression models, odds ratios and 95% CIs were calculated for the association between waterpipe smoking and myocardial infarction, while adjusting for possible confounders. RESULTS: Myocardial infarction was associated significantly with current waterpipe smoking (OR=4.08; 95% CI: 1.37-12.10), ever waterpipe smoking (OR=3.6; 95% CI: 1.31-10.19), and exclusive waterpipe smoking (OR=10.26; 95% CI: 2.22-47.29). Exclusive cigarette smoking was also associated significantly with the development of myocardial infarction (OR=4.6; 95% CI: 1.98-11.04). CONCLUSIONS: Waterpipe smoking is associated with myocardial infarction. Our findings reveal the need for targeted interventions to reduce the prevalence of this globally spreading form of tobacco smoking.

19.
Egypt Heart J ; 70(4): 455-459, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30591772

RESUMO

Late onset of complete heart block is a life-threatening uncommon complication after surgical repair of congenital heart diseases. In this report, we discuss two cases of Perimembranous ventricular septal defect (VSD) that had late presentation of complete heart block after surgical repair. We are aiming to highlight this unusual complication for more awareness, better understanding and management of this unusual complication after pediatric cardiac surgery.

20.
Saudi Pharm J ; 26(8): 1089-1097, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30532629

RESUMO

In recent years, the decreased efficacy of existing antibiotics toward management of emergent drug-resistant strains has necessitated the search for novel antibiotics from natural products. In this regard, Bacillus sp is well known for producing variety of secondary metabolites of potential use. Therefore, we performed an investigation to isolate and identify Bacillus sp from oral cavity for production of novel antimicrobial compounds. We extracted, purified, and identified a novel bioactive compound by B. megaterium (KC246043.1). The optimal production of compound was observed on de Man Rogosa and Sharpe broth by incubating at 37 °C, and pH 7.0 for 4 days. The bioactive compound was extracted by using n-butanol (2:1 v/v), purified on TLC plates with detection at Rf 7.8 cm; further characterized and identified as a cyclic ploypeptide sharing structural similarity with bacitracin. Minimum inhibitory concentration of bioactive compound was found to be 0.25, 0.5, 1.0, 3.125 and 6.25 µg/ml against Micrococcus luteus ATCC10240, Salmonella typhi ATCC19430, Escherichia coli ATCC35218. Pseudomonas aeruginosa ATCC27853 and Staphylococcus aureus ATCC25923 respectively, with no activity against Candida albicans ATCC10231. Our findings have revealed a novel cyclic peptide compound from B. megaterium with broad spectrum antimicrobial activity against both Gram positive and Gram negative bacteria.

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