RESUMO
The first detection of a human infection with avian influenza A/H6N1 virus in Taiwan in 2013 has raised concerns about this virus. During our routine surveillance of avian influenza viruses (AIVs) in live-bird markets in Egypt, an H6N1 virus was isolated from a garganey duck and was characterized. Phylogenetic analysis indicated that the Egyptian H6N1 strain A/Garganey/Egypt/20869C/2022(H6N1) has a unique genomic constellation, with gene segments inherited from different subtypes (H5N1, H3N8, H7N3, H6N1, and H10N1) that have been detected previously in AIVs from Egypt and some Eurasian countries. We examined the replication of kinetics of this virus in different mammalian cell lines (A549, MDCK, and Vero cells) and compared its pathogenicity to that of the ancestral H6N1 virus A/Quail/HK/421/2002(H6N1). The Egyptian H6N1 virus replicated efficiently in C57BL/6 mice without prior adaptation and grew faster and reached higher titers than in A549 cells than the ancestral strain. These results show that reassortant H6 AIVs might pose a potential threat to human health and highlight the need to continue surveillance of H6 AIVs circulating in nature.
Assuntos
Vírus da Influenza A Subtipo H3N8 , Virus da Influenza A Subtipo H5N1 , Vírus da Influenza A , Influenza Aviária , Animais , Camundongos , Chlorocebus aethiops , Humanos , Influenza Aviária/epidemiologia , Egito/epidemiologia , Filogenia , Células Vero , Vírus da Influenza A Subtipo H7N3 , Camundongos Endogâmicos C57BL , Animais Selvagens , Patos , MamíferosRESUMO
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) has been presented as a potential therapeutic option for patients with cardiogenic shock complicating myocardial infarction (CS-MI). We aimed to investigate the efficacy and safety of ECMO in CS-MI. METHODS: A systematic review and meta-analysis synthesizing evidence from randomized controlled trials obtained from PubMed, Embase, Cochrane, Scopus, and Web of Science until September 2023. We used the random-effects model to report dichotomous outcomes using risk ratio and continuous outcomes using mean difference with a 95% confidence interval. Finally, we implemented a trial sequential analysis to evaluate the reliability of our results. RESULTS: We included four trials with 611 patients. No significant difference was observed between ECMO and standard care groups in 30-day mortality with pooled RR of 0.96 (95% CI: 0.81-1.13, p = 0.60), acute kidney injury (RR: 0.65, 95% CI: 0.41-1.03, p = 0.07), stroke (RR: 1.16, 95% CI: 0.38-3.57, p = 0.80), sepsis (RR: 1.06, 95% CI: 0.77-1.47, p = 0.71), pneumonia (RR: 0.99, 95% CI: 0.58-1.68, p = 0.96), and 30-day reinfarction (RR: 0.95, 95% CI: 0.25-3.60, p = 0.94). However, the ECMO group had higher bleeding events (RR: 2.07, 95% CI: 1.44-2.97, p < 0.0001). CONCLUSION: ECMO did not improve clinical outcomes compared to the standard of care in patients with CS-MI but increased the bleeding risk.
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Oxigenação por Membrana Extracorpórea , Infarto do Miocárdio , Ensaios Clínicos Controlados Aleatórios como Assunto , Choque Cardiogênico , Humanos , Oxigenação por Membrana Extracorpórea/efeitos adversos , Oxigenação por Membrana Extracorpórea/mortalidade , Choque Cardiogênico/terapia , Choque Cardiogênico/mortalidade , Choque Cardiogênico/diagnóstico , Choque Cardiogênico/etiologia , Choque Cardiogênico/fisiopatologia , Infarto do Miocárdio/mortalidade , Infarto do Miocárdio/complicações , Infarto do Miocárdio/terapia , Infarto do Miocárdio/diagnóstico , Resultado do Tratamento , Fatores de Risco , Masculino , Feminino , Pessoa de Meia-Idade , Medição de Risco , Idoso , Fatores de TempoRESUMO
The blue swimmer crab, Portunus pelagicus, is an edible abundant crustacean found in many seas around the world, including the Arabian Gulf. In this study, the concentrations of six metal ions in the white and brown meats of P. pelagicus from four sites in Bahrain were determined. P. pelagicus was found to accumulate Zn2+ and Cu2+ higher than other metal ions in the order of Zn2+ > Cu2+ > Cd2+ > Ni2+ > Cr3+, while Pb2+ was not detected. The overall average concentrations of Zn2+, Cu2+, Cr3+, Ni2+, and Cd2+ in white meat were 236.2, 69.5, 0.109, 0.159, and 0.273 mg/kg, while in brown meat, they were 235.4, 199.2, 0.133, 1.25, and 4.87 mg/kg based on dry weight, respectively. Concentrations of Pb2+ and Cd2+ were safe according to Bahrain's and European Commission guidelines. The estimated weekly intake (EWI) values of Zn2+, Cu2+, Pb2+, and Cd2+ via consumption of crab's white meat (edible tissue) were 102.1, 30.1, 0.042, and 0.12 µg/kg/week, respectively, which are far lower than the maximum recommended values established by the FAO/WHO. The hazard quotient (HQ) values of individual trace metal ions and the synergistic effects of total trace metal ion (hazard index) were below 1, indicating that there is no potential health risk on the consumption of crab edible tissues (white meat). However, elevated levels of Cd2+ (0.05-1.73 mg/kg wet weight) in the brown meat (hepatopancreas) were detected. The female P. pelagicus accumulated high levels of Zn2+ and Cu2+ in the white meat, as well as Cu2+ in the brown meat compared to males. Additionally, it was found that Cu2+ and Cd2+ were significantly higher (p < 0.05) in brown meat compared to white meat. Higher concentrations (p < 0.05) of Zn2+, Cu2+, and Cd2+ were observed in crabs collected from sites that have harsher environmental conditions.
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Braquiúros , Metais Pesados , Oligoelementos , Poluentes Químicos da Água , Masculino , Animais , Feminino , Cádmio , Barein , Bioacumulação , Chumbo , Monitoramento Ambiental , Poluentes Químicos da Água/análise , Oligoelementos/análise , Medição de Risco , Metais Pesados/análiseRESUMO
The incidence and mortality of COVID-19, according to the World Health Organization reports, shows a noticeable difference between North America, Western Europe, and South Asia on one hand and most African countries on the other hand, especially the malaria-endemic countries. Although this observation could be attributed to limited testing capacity, mitigation tools adopted and cultural habits, many theories have been postulated to explain this difference in prevalence and mortality. Because death tends to occur more in elders, both the role of demography, and how the age structure of a population may contribute to the difference in mortality rate between countries were discussed. The variable distribution of the ACEI/D and the ACE2 (C1173T substitution) polymorphisms has been postulated to explain this variable prevalence. Up-to-date data regarding the role of hydroxychloroquine (HCQ) and chloroquine (CQ) in COVID-19 have been summarized. The article also sheds lights on how the similarity of malaria and COVID-19 symptoms can lead to misdiagnosis of one disease for the other or overlooking the possibility of co-infection. As the COVID-19 pandemic threatens the delivery of malaria services, such as the distribution of insecticide-treated nets (ITNs), indoor residual spraying, as well as malaria chemoprevention there is an urgent need for rapid and effective responses to avoid malaria outbreaks.
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COVID-19/epidemiologia , Malária/epidemiologia , SARS-CoV-2 , Fatores Etários , Enzima de Conversão de Angiotensina 2/fisiologia , COVID-19/diagnóstico , Cloroquina/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Interferons/fisiologia , Malária/diagnóstico , Malária/tratamento farmacológico , Prevalência , Tratamento Farmacológico da COVID-19RESUMO
BACKGROUND: Coronary interventions in patients of achondroplasia have been reported rarely in the medical literature. Due to short stature and kyphoscoliosis, endovascular access (Cannulation) of the coronary arteries is usually extremely difficult in such patients. CASE PRESENTATION: A 33 years old patient, a known case of achondroplasia, presented with epigastric pain for 3 h duration to a university hospital, Sudan. Her height was 95 cm and her weight was 38 Kg. A trans-femoral approach for coronary angioplasty was preferred. After it has been extremely difficult to cannulate the left system at first, the cannulation has been performed successfully using 5F, JL3.5 catheter. The angiogram depicted total occlusion of the proximal right coronary artery which was found to be originating from the left coronary sinus of the aorta. Successful trans-femoral coronary angioplasty has been performed with stent placement, and no complications encountered. During her last follow up, 1 year after the procedure, she appeared to be free of symptoms and with no further ischemic attacks or procedure-related complications. CONCLUSIONS: To the best of our knowledge, this is the first reported case of successful coronary angioplasty in achondroplasia patient in whom the occluded artery is an anomalous coronary artery. Literature review, description of the achondroplasia, development of the coronary arteries and the hypothesized theory for the anomaly have been described in this case report. The PCI performed has also been clearly and comprehensively described.
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Acondroplasia/complicações , Angioplastia Coronária com Balão , Anomalias dos Vasos Coronários/complicações , Acondroplasia/diagnóstico , Adulto , Angioplastia Coronária com Balão/instrumentação , Angiografia Coronária , Oclusão Coronária/diagnóstico por imagem , Oclusão Coronária/etiologia , Anomalias dos Vasos Coronários/diagnóstico por imagem , Stents Farmacológicos , Feminino , Humanos , Resultado do TratamentoRESUMO
Avian influenza A H5N1 and H9N2 viruses have been extensively circulating in various avian species and frequently infect mammals, including humans. The synchronous circulation of both viruses in Egypt provides an opportunity for possible genetic assortment, posing a probable threat to global public health. To assess the potential risk of the IAV reassortants derived from co-circulation of these two AI subtypes, reverse genetics technology was used to generate a set of IAV reassortants carrying single genetic segments of clade 2.2.1.2 virus A/duck/Egypt/Q4596D/2012 (H5N1), a representative of the most prevalent H5N1 clade in Egypt, in the genetic backbone of A/chicken/Egypt/S4456B/2011 (H9N2), a representative of G1-like H9N2 lineage which is widely circulating in Egypt. Furthermore, the genetic compatibility, growth kinetics and virulence were evaluated in vitro in mammalian systems using the MDCK cell line and avian system using SPF embryonated chicken eggs. Pathogenicity and virus shedding were further tested using SPF chickens. Out of the eight desired H9-reassortants, we could rescue only 5 reassortant viruses, either due to difficulty in cloning (PB1 of H5N1 virus) or genetic incompatibility (NP-H5/H9 and NA-H5/H9). Results revealed higher replication rates for the H9N2 virus having the NS segment of H5N1 virus. The lowest survival rate in both SPF eggs and SPF chickens was associated with the H5N1 parent virus infection, followed by the HA-H5/H9 virus. Our findings also suggest that all other reassortant viruses were of lower pathogenicity than the wild type H5N1 virus.
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Galinhas , Virus da Influenza A Subtipo H5N1/patogenicidade , Vírus da Influenza A Subtipo H9N2/patogenicidade , Influenza Aviária/virologia , Vírus Reordenados/patogenicidade , Animais , Linhagem Celular , Embrião de Galinha , Cães , Virus da Influenza A Subtipo H5N1/genética , Virus da Influenza A Subtipo H5N1/fisiologia , Vírus da Influenza A Subtipo H9N2/genética , Vírus da Influenza A Subtipo H9N2/fisiologia , Influenza Aviária/patologia , Rim , Vírus Reordenados/genética , Vírus Reordenados/fisiologia , Organismos Livres de Patógenos Específicos , Replicação Viral/fisiologiaRESUMO
Three novel series of pyridine derivatives, namely Schiff's bases, 4-thiazolidinones and azetidin-2-ones bearing pyrazolo[3,4-b]pyridine moiety, have been synthesized. The chemical structures of the synthesized compounds were characterized. The compounds were tested for their antimicrobial activity using the agar well diffusion and broth macrodilution methods. The compounds were also evaluated for their antiproliferative activity using the sulforhodamine B (SRB) assay. The majority of the tested compounds exhibited slight to high antimicrobial activity against the test microorganisms with minimum inhibitory concentrations (MICs) of 0.12-62.5 µg/mL when compared to that of 3 standard antimicrobial agents (Ampicillin, 0.007-0.03 µg/mL; Gentamicin; 0.015-0.24 µg/mL; and Amphotericin B, 0.03-0.98 µg/mL). Compound (7b) was found to be nearly as active as the standard antimicrobial drug Amphotericin B against Fusarium oxysporum fungal strain with MIC of 0.98 µg/mL. Some of the test compounds showed remarkable cytotoxic activities against Hep G2 (hepatocellular carcinoma) cells (IC50=0.0158-71.3 µM) in comparison to the standard anticancer drug doxorubicin (IC50=0.008 µM). Among the compounds tested, (5), (6a), (6b), (7b), and (10) exhibited antiproliferative potency (IC50=0.0001-0.0211 µM) that was found to be better than that of doxorubicin (IC50=0.099 µM) against MCF7 (breast adenocarcinoma) cells. In particular, (7b) displayed the highest significant antiproliferative efficacy against both Hep G2 and MCF7 cell lines showing IC50 values of 0.0158 µM and 0.0001 µM, respectively. Our findings suggest that the synthesized compounds may be promising candidates as novel antimicrobial and antiproliferative agents.
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Anti-Infecciosos/farmacologia , Antineoplásicos/farmacologia , Piridinas/farmacologia , Anti-Infecciosos/síntese química , Antineoplásicos/síntese química , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Fungos/efeitos dos fármacos , Fungos/crescimento & desenvolvimento , Bactérias Gram-Negativas/efeitos dos fármacos , Bactérias Gram-Negativas/crescimento & desenvolvimento , Bactérias Gram-Positivas/efeitos dos fármacos , Bactérias Gram-Positivas/crescimento & desenvolvimento , Células Hep G2 , Humanos , Células MCF-7 , Testes de Sensibilidade Microbiana , Piridinas/síntese químicaRESUMO
Clade 2.2 highly pathogenic H5N1 viruses have been in continuous circulation in Egyptian poultry since 2006. Their persistence caused significant genetic drift that led to the reclassification of these viruses into subclades 2.2.1 and 2.2.1.1. Here, we conducted full-genome sequence and phylogenetic analyses of 45 H5N1 isolated during 2006-2013 through systematic surveillance in Egypt, and 53 viruses that were sequenced previously and available in the public domain. Results indicated that H5N1 viruses in Egypt continue to evolve and a new distinct cluster has emerged. Mutations affecting viral virulence, pathogenicity, transmission, receptor-binding preference and drug resistance were studied. In light of our findings that H5N1 in Egypt continues to evolve, surveillance and molecular studies need to be sustained.
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Virus da Influenza A Subtipo H5N1/classificação , Virus da Influenza A Subtipo H5N1/genética , Influenza Aviária/virologia , Aves Domésticas , Animais , Análise por Conglomerados , Egito , Genótipo , Virus da Influenza A Subtipo H5N1/isolamento & purificação , Dados de Sequência Molecular , Filogenia , RNA Viral/genética , Análise de Sequência de DNARESUMO
Avian influenza virus subtype H9N2 has been circulating in the Middle East since the 1990s. For uncertain reasons, H9N2 was not detected in Egyptian farms until the end of 2010. Circulation of H9N2 viruses in Egyptian poultry in the presence of the enzootic highly pathogenic H5N1 subtype adds a huge risk factor to the Egyptian poultry industry. In this study, 22 H9N2 viruses collected from 2011 to 2013 in Egypt were isolated and sequenced. The genomic signatures and protein sequences of these isolates were analyzed. Multiple mammalian-host-associated mutations were detected that favor transmission from avian to mammalian hosts. Other mutations related to virulence were also identified. Phylogenetic data showed that Egyptian H9N2 viruses were closely related to viruses isolated from neighboring Middle Eastern countries, and their HA gene resembled those of viruses of the G1-like lineage. No reassortment was detected with H5N1 subtypes. Serological analysis of H9N2 virus revealed antigenic conservation among Egyptian isolates. Accordingly, continuous surveillance that results in genetic and antigenic characterization of H9N2 in Egypt is warranted.
Assuntos
Antígenos Virais/genética , Evolução Molecular , Vírus da Influenza A Subtipo H9N2/genética , Vírus da Influenza A Subtipo H9N2/imunologia , Influenza Aviária/virologia , Doenças das Aves Domésticas/virologia , Proteínas Virais/genética , Sequência de Aminoácidos , Animais , Antígenos Virais/química , Antígenos Virais/imunologia , Egito/epidemiologia , Vírus da Influenza A Subtipo H9N2/classificação , Vírus da Influenza A Subtipo H9N2/isolamento & purificação , Influenza Aviária/epidemiologia , Dados de Sequência Molecular , Filogenia , Aves Domésticas , Doenças das Aves Domésticas/epidemiologia , Alinhamento de Sequência , Proteínas Virais/química , Proteínas Virais/imunologiaRESUMO
BACKGROUND: High-power short-duration (HPSD) ablation has emerged as an alternative to conventional standard-power long-duration (SPLD) ablation. We aim to assess the efficacy and safety of HPSD versus SPLD for atrial fibrillation (AF) ablation. METHODS: A systematic review and meta-analysis of randomized controlled trials (RCTs) retrieved from PubMed, WOS, SCOPUS, EMBASE, and CENTRAL were performed through August 2023. We used RevMan V. 5.4 to pool dichotomous data using risk ratio (RR) and continuous data using mean difference (MD) with a 95% confidence interval (CI). PROSPERO ID: CRD42023471797. RESULTS: We included six RCTs with a total of 694 patients. HPSD was significantly associated with a decreased total procedure time (MD: -22.88 with 95% CI [-36.13, -9.63], P = 0.0007), pulmonary vein isolation (PVI) time (MD: -19.73 with 95% CI [-23.93, -15.53], P < 0.00001), radiofrequency time (MD: -10.53 with 95% CI [-12.87, -8.19], P < 0.00001). However, there was no significant difference between HPSD and SPLD ablation with respect to the fluoroscopy time (MD: -0.69 with 95% CI [-2.00, 0.62], P = 0.30), the incidence of esophageal lesions (RR: 1.15 with 95% CI [0.43, 3.07], P = 0.77), and the incidence of first pass isolation (RR: 0.98 with 95% CI [0.88, 1.08], P = 0.65). CONCLUSION: HPSD ablation was significantly associated with decreased total procedure time, PVI time, and radiofrequency time compared with SPLD ablation. On the contrary, SPLD ablation was significantly associated with low maximum temperature.
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Background: Discontinuation of the most effective methods of contraception such as Implanon has now become a worldwide problem, which is significantly associated with mistimed and unwanted pregnancies and unsafe abortion, leading to an increased risk of maternal and child mortality and morbidity. However, studies on factors associated with Implanon discontinuation in Ethiopia, particularly in the area under this study, are limited. Therefore, this study aims to identify the determinants of Implanon discontinuation among women who used Implanon at Debre Berhan town public health institutions. Methods and materials: A facility-based unmatched case-control study was conducted among 312 study participants (78 cases and 234 controls) from February 1, 2021, to April 30, 2021. The study participants were selected by using a systematic random sampling method for controls, and cases were selected consecutively until the required sample size was reached, during the data collection period. The data were collected by using a structured face-to-face interviewer-administered questionnaire and entered into Epidata version 4.6 and transferred to SPSS version 25 for analysis. Variables with a p-value of <0.25 in the bivariable analysis were entered into the multivariable logistic regression model. In the final model variables, a p-value of <0.05 was considered statistically significant at a 95% confidence interval (CI) and the strength of association was measured using an adjusted odds ratio (AOR). Results: In this study, the determinants of Implanon discontinuation were the following: women who had no formal education (AOR: 3.57; 95% CI, 1.62-7.87), who had no children (AOR: 2.8; 95% CI, 1.50-5.17), who had no counseling about side effects (AOR: 2.43;95% CI, 1.30-4.55), who had no discussion with their partner (AOR: 2.7; 95% CI, 1.34-5.46), who had no follow-up appointment (AOR:2.81; 95% CI, 1.54-5.12), and who had side effects (AOR:1.91; 95% CI, 1.13-3.53). Conclusion and Recommendations: Women's educational status, having no children during the insertion of Implanon, received no counseling about the side effects of insertion, no follow-up appointment, experiencing side effects, and no discussion with a partner were determinants of Implanon discontinuation. Hence, healthcare providers and other health sector stakeholders should provide and strengthen pre-insertion counseling, and follow-up appointments to increase the retention rates of Implanon.
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From 2010 to 2013, genotype I avian influenza A(H9N2) viruses of the G1-lineage were isolated from several poultry species in Egypt. In 2014, novel reassortant H9N2 viruses were detected in pigeons designated as genotype II. To monitor the subsequent genetic evolution of Egyptian A(H9N2) viruses, we characterized the full genomes of 173 viruses isolated through active surveillance from 2017 to 2022. In addition, we compared the virological characteristics and pathogenicity of representative viruses. Phylogenetic analysis of the HA indicated that all studied sequences from 2017-2021 were grouped into G1-like H9N2 viruses previously detected in Egypt. Phylogenetic analysis indicated that the Egyptian A(H9N2) viruses had undergone further reassortment, inheriting four genes (PB2, PB1, PA, NS) from genotype II, with their remaining segments deriving from genotype I viruses (these viruses designated as genotype III). Studying the virological features of the two most dominant genotypes (I and III) of Egyptian H9N2 viruses in vitro and in vivo indicated that both replicated well in mammalian cells, but did not show any clinical signs in chickens, ducks, and mice. Monitoring avian influenza viruses through surveillance programs and understanding the genetic and antigenic characteristics of circulating H9N2 viruses are essential for risk assessment and influenza pandemic preparedness.
Assuntos
Vírus da Influenza A Subtipo H9N2 , Influenza Aviária , Influenza Humana , Animais , Galinhas , Egito/epidemiologia , Humanos , Influenza Aviária/epidemiologia , Mamíferos , Camundongos , Filogenia , Vírus ReordenadosRESUMO
Clade 2.3.4.4 H5Nx influenza viruses have further diversified into several subclades. Sub-clade 2.3.4.4b H5N1 viruses have been widely circulating in wild birds and detected in Europe, Africa, Asia, and North America since October 2020. In this study, we report the first detection of highly pathogenic avian influenza H5N1 clade 2.3.4.4b viruses in wild birds and domestic ducks from live bird markets in Egypt. Phylogenetic analysis revealed that the Egyptian H5N1 virus retained the genomic composition of Eurasian strains. Mutations in the viral proteins associated with zoonotic potential and pathogenicity were detected in Egyptian isolates. Egypt is considered a hot spot for the evolution of the influenza virus, so active surveillance of avian influenza viruses in Egypt is warranted.
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BACKGROUND: Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet-Biedl syndrome. To our knowledge, these are the first cases of Bardet-Biedl syndrome reported from Sudan. CASE PRESENTATION: Here, we report four Sudanese patients who presented with a variety of clinical manifestations of Bardet-Biedl syndrome (two males, 50 and 16 years old; two females, 38 and 18 years old). The first two patients presented with features of chronic kidney disease. The third patient had recently been diagnosed with type 1 diabetes and diabetic ketoacidosis. The fourth patient showed signs of retinal dystrophy early on. Case 1: a 38-year-old female presented with vomiting and irritability; the patient was diagnosed with Bardet-Biedl syndrome as she fulfilled six items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, renal abnormalities, learning disabilities, and genitourinary malformations), as well as one secondary feature (cardiovascular involvement, that is, left ventricular hypertrophy). Case 2: a 50-year-old male presented with fatigability; the patient was diagnosed with Bardet-Biedl syndrome as he fulfilled four items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, and renal abnormalities) in addition to two secondary features (diabetes mellitus and cardiovascular involvement, that is, left ventricular hypertrophy). Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed with Bardet-Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) in addition to three secondary features (developmental delay, diabetes mellitus, and strabismus). Case 4: a 16-year-old male presented with a blurring of vision; the patient was diagnosed with Bardet-Biedl syndrome as he exhibited four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) plus two secondary features (developmental delay and cataract). CONCLUSION: The scarcity of Bardet-Biedl syndrome necessitates a high index of suspicion to diagnose this syndrome. Increased awareness among physicians is required for the early diagnosis and treatment of Bardet-Biedl syndrome and to avoid complications and mortality.
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Síndrome de Bardet-Biedl , Deficiências da Aprendizagem , Polidactilia , Retinose Pigmentar , Adolescente , Adulto , Síndrome de Bardet-Biedl/complicações , Síndrome de Bardet-Biedl/diagnóstico , Feminino , Dedos/anormalidades , Humanos , Hipertrofia Ventricular Esquerda/complicações , Rim/anormalidades , Deficiências da Aprendizagem/complicações , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Polidactilia/complicações , Polidactilia/diagnóstico , Dedos do Pé/anormalidades , Anormalidades UrogenitaisRESUMO
Frank' sign or diagonal earlobe crease (DELC) is a diagonal earlobe crease that extends backwards from the tragus at an angle of 45 degree across the lobule to the ear edge of the auricle. It has been described as a dermatological marker for coronary artery disease. Frank's sign is a useful clinical sign for coronary artery disease. Inspection of the earlobes should be considered as integral part of the physical examination in clinical practice for patients with suspected coronary artery disease.
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BACKGROUND: Acute myocardial infarction in patients with type two diabetes mellitus is usually present with multiple vessel lesions during coronary angiography. The underlying mechanism remains unexplored, and there is a deficiency of serum predictive markers. Glycosylated hemoglobin (HbA1c), which is a critical measure of glycemic control, could be used as a reliable predictor of the severity of ACS. MATERIALS AND METHODS: This is a prospective descriptive comparative hospital-based study measured the correlation between levels of HbA1c and the severity of ACS using the modified Gensini score (MGS). A total of 85 patients were enrolled in this study in the period between September and November 2019. The MGS depends on the number of vessels which are stenosed with the degree of stenosis more than 50% of their lumen. Data was analyzed using SPSS V. 2018. Chi-square test was used. RESULTS: The total number of enrolled patients was 85. Dyslipidemia was found among 63 (74.1%) patients, and 52 (69.4%) of the patients were noted to have hypertension. A total of 19 (22.4%) patients were smokers. About 59 (69.4%) patients had a family history of IHD, and 22 patients (25.9%) had a history of IHD. STEMI was the main ECG finding 54 (63.5%). Modified Gensini score depicted that 32 (35.29%) had mild acute coronary syndrome, 23(27.06%) had moderate, and 30 (37.65%) had severe acute coronary syndrome. HbA1c was significantly positively correlated with the severity of ACS among diabetic patients (P value = 0.000). CONCLUSION: In diabetic patients with acute coronary syndrome, HbA1c levels can be used as a predictor for the severity of CAD.
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Síndrome Coronariana Aguda/sangue , Síndrome Coronariana Aguda/diagnóstico , Biomarcadores/sangue , Hemoglobinas Glicadas/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
Since the emergence of the SARS-CoV-2 pandemic in 2019, it has remained a significant global threat, especially with the newly evolved variants. Despite the presence of different COVID-19 vaccines, the discovery of proper antiviral therapeutics is an urgent necessity. Nature is considered as a historical trove for drug discovery, especially in global crises. During our efforts to discover potential anti-SARS CoV-2 natural therapeutics, screening our in-house natural products and plant crude extracts library led to the identification of C. benedictus extract as a promising candidate. To find out the main chemical constituents responsible for the extract's antiviral activity, we utilized recently reported SARS CoV-2 structural information in comprehensive in silico investigations (e.g., ensemble docking and physics-based molecular modeling). As a result, we constructed protein-protein and protein-compound interaction networks that suggest cnicin as the most promising anti-SARS CoV-2 hit that might inhibit viral multi-targets. The subsequent in vitro validation confirmed that cnicin could impede the viral replication of SARS CoV-2 in a dose-dependent manner, with an IC50 value of 1.18 µg/mL. Furthermore, drug-like property calculations strongly recommended cnicin for further in vivo and clinical experiments. The present investigation highlighted natural products as crucial and readily available sources for developing antiviral therapeutics. Additionally, it revealed the key contributions of bioinformatics and computer-aided modeling tools in accelerating the discovery rate of potential therapeutics, particularly in emergency times like the current COVID-19 pandemic.
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BACKGROUND: The incidence of ectopic kidneys is 1:12,000 clinically and 1:900 postmortem. Patients with pelvic mal-rotated kidneys are more susceptible to recurrent urinary tract infections, recurrent renal stones, and renal injury. Fusion of the kidney lower poles is relatively common compared to other types of renal anomalies. CASE PRESENTATION: We present the case of a 36-year-old Sudanese female patient who presented with a long history of recurrent urinary tract infections unresponsive to antibiotics. Ultrasound scan revealed bilateral pelvic kidneys. Computed tomography (CT) urography confirmed bilateral ectopic fused kidneys, with the left kidney mal-rotated (renal pelvis facing upwards and laterally). Kidney infection secondary to vesicoureteral reflux was diagnosed. Antibiotics were prescribed according to culture and sensitivity. The patient responded well to ciprofloxacin. CONCLUSION: A history of recurrent urinary tract infections without an apparent cause is highly suggestive of renal anomaly and should be investigated expediently. Ultrasonography or CT imaging may be utilized to aid in diagnosis. Early recognition may help prevent the high risk of end-stage renal failure associated with anomalies.
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Cálculos Renais , Rim , Adulto , Feminino , Humanos , Rim/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Ultrassonografia , UrografiaRESUMO
The variants of electron transfer flavoprotein (ETFA, ETFB) and ETF dehydrogenase (ETFDH) are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified 13 patients harboring six variants of two genes associated with GA-II. Out of the six variants, four were missense, and two were frameshift mutations. A missense variant (ETFDH:p.Gln269His) was observed in a homozygous state in nine patients. Among nine patients, three had experienced metabolic crises with recurrent vomiting, abdominal pain, and nausea. In one patient with persistent metabolic acidosis, hypoglycemia, and a high anion gap, the ETFDH:p.Gly472Arg, and ETFB:p.Pro94Thrfs*8 variants were identified in a homozygous, and heterozygous state, respectively. A missense variant ETFDH:p.Ser442Leu was detected in a homozygous state in one patient with metabolic acidosis, hypoglycemia, hyperammonemia and liver dysfunction. The ETFDH:p.Arg41Leu, and ETFB:p.Ile346Phefs*19 variants were observed in a homozygous state in one patient each. Both these variants have not been reported so far. In silico approaches were used to evaluate the pathogenicity and structural changes linked with these six variants. Overall, the results indicate the importance of a newborn screening program and genetic investigations for patients with GA-II. Moreover, careful interpretation and correlation of variants of uncertain significance with clinical and biochemical findings are needed to confirm the pathogenicity of such variants.
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Deficiência Múltipla de Acil Coenzima A DesidrogenaseRESUMO
BACKGROUND: Osteoporosis is a metabolic bone disease characterized by low bone density resulting in increased fracture susceptibility. This research was constructed to uncover the potential therapeutic application of osteoblasts transplantation, generated upon culturing male rat bone marrow-derived mesenchymal stem cells (BM-MSCs) in osteogenic medium (OM), OM containing gold (Au-NPs) or gold/hydroxyapatite (Au/HA-NPs) nanoparticles, in ovariectomized rats to counteract osteoporosis. METHODS: Forty rats were randomized into: (1) negative control, (2) osteoporotic rats, whereas groups (3), (4) and (5) constituted osteoporotic rats treated with osteoblasts yielded from culturing BM-MSCs in OM, OM plus Au-NPs or Au/HA-NPs, respectively. After 3 months, osterix (OSX), bone alkaline phosphatase (BALP), sclerostin (SOST) and bone sialoprotein (BSP) serum levels were assessed. In addition, gene expression levels of cathepsin K, receptor activator of nuclear factor-κb ligand (RANKL), osteoprotegerin (OPG) and RANKL/OPG ratio were evaluated using real-time PCR. Moreover, histological investigation of femur bone tissues in different groups was performed. The homing of implanted osteoblasts to the osteoporotic femur bone of rats was documented by Sex determining region Y gene detection in bone tissue. RESULTS: Our results indicated that osteoblasts infusion significantly blunted serum BALP, BSP and SOST levels, while significantly elevated OSX level. Also, they brought about significant down-regulation in gene expression levels of cathepsin K, RANKL and RANKL/OPG ratio versus untreated osteoporotic rats. Additionally, osteoblasts nidation could restore bone histoarchitecture. CONCLUSION: These findings offer scientific evidence that transplanting osteoblasts in osteoporotic rats regains the homeostasis of the bone remodeling cycle, thus providing a promising treatment strategy for primary osteoporosis.