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1.
Artigo em Inglês | MEDLINE | ID: mdl-39095027

RESUMO

BACKGROUND: Although there are considerable amounts of data on the outcomes of pediatric patients who have undergone Fontan repair, little is known about having Fontan completed in adulthood. The study presented the midterm results of our unit's experience with the Fontan completion procedure in adult patients with functionally univentricular hearts. METHODS: Between 2014 and 2023, 16 adult patients underwent total cavopulmonary connection (TCPC) completion. Relevant information was retrospectively collected. RESULTS: Sixteen patients with a median age of 19 years (18-21 years) were included. Median arterial oxygen saturation was 76% (70-80.75%), and 62.5% of the patients were New York Heart Association (NYHA) Class III. The median mean pulmonary artery pressure was 14 mm Hg (9.5-14.5 mm Hg). Nine patients (56%) had heterotaxy syndrome, and the median time between the last operation and TCPC was 15.5 years (6.75-17.5 years). The median durations for bypass and cross-clamp were 160 minutes (130-201 minutes) and 120 minutes (84.5-137.5 minutes), consecutively. The postoperative course was straightforward in all. The median arterial oxygen saturation before discharge was 89.5% (85-90%), and 68.75% of the patients were NYHA Class II. Follow-up was complete for all patients with a median of 24 months. There was no early or late mortality or significant morbidity during the study period. CONCLUSION: We concluded that the intra-extracardiac Fontan technique was feasible for meticulously selected adults undergoing TCPC completion, as evidenced by an acceptable mortality rate and a satisfactory midterm outcome, including improvements in their NYHA functional class. However, the long-term consequences must be monitored.

2.
Biomed Chromatogr ; : e5975, 2024 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-39105236

RESUMO

In this research, the study utilized the root, leaf, and petiole parts of in vitro grown Salvia hispanica plants as explants. Following UV-C treatment applied to developing callus, methanol extracts were obtained and analyzed using liquid chromatography-mass spectrometry (LC/MS) to investigate their anticancer properties. First, the seeds of S. hispanica were soaked in commercial bleach for 6 min to ensure surface sterilization. The most effective antimicrobial activity on Gram-negative bacteria, with a zone diameter (11 ± 0.82 mm), was noticed in callus extracts obtained from the petiole explant in the second protocol against Klebsiella pneumoniae EMCS bacteria. Anticancer activities on SH-SY5Y human neuroblastoma cells were investigated by using 1000, 500, 250, 125, 62.5, 31.25, 15.62, and 78.12 µg/mL doses of the extracts, and the most effective cytotoxic activity was determined at the 1000 µg/mL dose of the extracts obtained from both protocols. The extracts were determined to inhibit hCAI, hCAII, AChE, and BChE enzymes. The content of 53 different phytochemical components of the extracts was analyzed by liquid chromatography with tandem mass spectrometry (LC-MS/MS). Rosmarinic acid, quinic acid, and caffeic acid were found in the highest concentration. The comprehensive LC-MS/MS analysis of S. hispanica extracts revealed a diverse array of phytochemical compounds, highlighting its potential for therapeutic applications.

3.
Mol Syndromol ; 15(4): 317-323, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39119449

RESUMO

Introduction: Smith-Lemli-Opitz syndrome (SLOS), a genetic developmental disorder characterized by various congenital anomalies, arises from a loss of normal DHCR7 enzymatic action in cholesterol biosynthesis. This syndrome is typically marked by various congenital anomalies, including microcephaly with cognitive impairments, distinctive facial features, and syndactyly of the toes (2-3 fusion). Case Presentation: A 73-year-old woman, followed up on by the neurology clinic for the last 3 years for amnesia and movement disorders, was referred to our clinic for genetic etiology investigation. Although there were no significant dysmorphic findings on her physical examination, observations included partial syndactyly between the second and third toes of both feet, a wide forehead, and a triangular face. We used the whole-exome sequencing (WES) analysis to evaluate the patient because of their various phenotype, which included dysmorphic features, movement problems, recurrent hip dislocation, mild intellectual impairment. WES analysis revealed a homozygous missense c.1295A>G (p.Tyr432Cys) variation in DHCR7 gene. Discussion: A total of 9 patients with p.Tyr432Cys variant have been reported in the literature so far. The present case is the first patient with biallelic c.1295A>G (p.Tyr432Cys) variation in DHCR7 gene in the current literature. Diagnosing the disorder can be challenging, particularly in its milder manifestations, given the extensive range of clinical presentations. The present case is the oldest patient with SLOS reported in the relevant literature. Mild dysmorphic features, mild intellectual disability, and recurrent hip dislocation, along with the typical finding of syndactyly between the second and third toes in the foot, may indicate mild forms of SLOS.

4.
Mikrobiyol Bul ; 58(3): 293-308, 2024 Jul.
Artigo em Turco | MEDLINE | ID: mdl-39046211

RESUMO

Viral hepatitis are infections that can cause liver damage, become chronic, lead to cirrhosis, hepatocellular carcinoma and ultimately result in death due to their ability to spread in the community through blood and infected body fluids. The aim of this study was to determine the seroprevalence of hepatitis B (HBV), hepatitis C (HCV), and hepatitis D (HDV) transmitted through blood among individuals living in Trabzon province and to examine the factors potentially associated with seroprevalence. This cross-sectional study was conducted in Trabzon province, located in the northeast of Türkiye, including a total of 10 districts, including the central district. Since seroprevalence was calculated for HBV, HCV, and HDV in the study, the sample size was separately calculated for each, and the calculated maximum sample size of 1116 was accepted as the minimum sample size for the study. The study was completed with 1502 participants. Serological tests for HBV included HBsAg, anti-HBs, and anti-HBc IgG; for HCV, anti-HCV; and for HDV, anti-HDV were analysed. Data were evaluated for HBV risk factors using univariate analyses with Chi-square test and for multiple analyses using enter model logistic regression analysis. The mean age of the participants was 45.7 ± 16.6 years, with 767 (51.1%) being female. The prevalence of HBV seropositivity, indicating vaccination, was 23.0%, while the seroprevalence of HBV among unvaccinated adults was 27.4%. HBsAg positivity was 5.1%, and isolated anti-HBc IgG positivity was 4.2%. The proportion of individuals with HBsAg in the gray zone was 0.5%, while the positivity rates for anti-HBs and anti-HBc IgG (indicating past infection) were 17.6%. The prevalence of anti-HCV was six per thousand, while anti-HDV was not detected in the analyses. HBsAg positivity and co-infection with HCV were found in one person, and among the nine individuals positive for anti-HCV, isolated anti-HBc IgG positivity was detected in three. Increasing age, presence of a person with jaundice in the family, presence of diabetes mellitus, alcohol use and cupping therapy were identified as risk factors for HBV in the logistic regression analysis. Risk factors for HCV in univariate analyses were being over 40 years old, presence of hepatic steatosis and receiving dialysis treatment. The results of the study indicate that despite being included in our vaccination schedule and the administration of vaccines to high-risk adults, HBV still requires intensive attention as a public health problem. HCV, lacking a vaccine has been evaluated as an infectious agent that needs to be taken into consideration due to its potential risks and requires the complete implementation of individual and social precautions.


Assuntos
Antígenos de Superfície da Hepatite B , Hepatite B , Hepatite C , Hepatite D , Humanos , Estudos Soroepidemiológicos , Hepatite D/epidemiologia , Hepatite D/imunologia , Fatores de Risco , Feminino , Masculino , Estudos Transversais , Pessoa de Meia-Idade , Adulto , Hepatite C/epidemiologia , Hepatite B/epidemiologia , Turquia/epidemiologia , Antígenos de Superfície da Hepatite B/sangue , Modelos Logísticos , Idoso , Anticorpos Anti-Hepatite B/sangue , Adulto Jovem , Anticorpos Anti-Hepatite C/sangue , Adolescente , Anticorpos Anti-Hepatite/sangue
5.
Rev Assoc Med Bras (1992) ; 70(7): e20240257, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39045941

RESUMO

OBJECTIVE: The objective of this study was to assess the effectiveness and safety of levosimendan as an alternative treatment for pediatric patients with decompensated heart failure unresponsive to conventional inotropes and to emphasize its role in enhancing cardiovascular stability. METHODS: A total of 15 pediatric patients with decompensated heart failure, stemming from acute fulminant myocarditis (53.3%) and post-congenital heart disease surgery complications (46.7%), received levosimendan. The evaluation focused on adverse effects, respiratory support requirements, and concurrent inotropic medication use during levosimendan treatment. Key cardiovascular parameters were assessed at 0, 6, 12, and 24 h post-levosimendan infusion. RESULTS: Levosimendan administration significantly improved key cardiovascular metrics. Left ventricular ejection fraction increased notably from 45±14.8% to 58±15.6% at 24 h (p<0.001). Systolic and diastolic blood pressures rose significantly, with systolic increasing from 79 (68-90) to 98 (89-109) mmHg and diastolic from 47 (40-57) to 66 (54-76) mmHg by 24 h (p<0.001). Heart rate decreased from 162 (111-175) to 132 (99-148) bpm (p=0.02), and lactate levels significantly decreased from 4.15 (2.3-6.5) to 1.85 (0.8-2.6) mmol/L within 6 h (p<0.001). CONCLUSION: Levosimendan demonstrates its significance in managing pediatric heart failure, indicating its safety and potential to enhance cardiac outcomes by reducing reliance on traditional inotropes.


Assuntos
Cardiotônicos , Insuficiência Cardíaca , Hidrazonas , Piridazinas , Simendana , Humanos , Simendana/uso terapêutico , Insuficiência Cardíaca/tratamento farmacológico , Cardiotônicos/uso terapêutico , Piridazinas/uso terapêutico , Piridazinas/efeitos adversos , Masculino , Feminino , Hidrazonas/uso terapêutico , Pré-Escolar , Criança , Resultado do Tratamento , Lactente , Adolescente , Pressão Sanguínea/efeitos dos fármacos , Miocardite/tratamento farmacológico , Fatores de Tempo , Frequência Cardíaca/efeitos dos fármacos , Volume Sistólico/efeitos dos fármacos
7.
Compr Rev Food Sci Food Saf ; 23(4): e13393, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39031842

RESUMO

Commercial applications of nanotechnology in the food industry are rapidly increasing. Accordingly, there is a simultaneous increase in the amount and diversity of nanowaste, which arise as byproducts in the production, use, disposal, or recycling processes of nanomaterials utilized in the food industry. The potential risks of this nanowaste to human health and the environment are alarming. It is of crucial significance to establish analytical methods and monitoring systems for nanowaste to ensure food safety. This review provides comprehensive information on nanowaste in foods as well as comparative material on existing and new analytical methods for the detection of nanowaste. The article is specifically focused on nanowaste in food systems. Moreover, the current techniques, challenges as well as potential use of new and progressive methods are underlined, further highlighting advances in technology, collaborative efforts, as well as future perspectives for effective nanowaste detection and tracking. Such detection and tracking of nanowaste are required in order to effectively manage this type ofwasted in foods. Although there are devices that utilize spectroscopy, spectrometry, microscopy/imaging, chromatography, separation/fractionation, light scattering, diffraction, optical, adsorption, diffusion, and centrifugation methods for this purpose, there are challenges to be overcome in relation to nanowaste as well as food matrix and method characteristics. New technologies such as radio-frequency identification, Internet of things, blockchain, data analytics, and machine learning are promising. However, the cooperation of international organizations, food sector, research, and political organizations is needed for effectively managing nanowaste. Future research efforts should be focused on addressing knowledge gaps and potential strategies for optimizing nanowaste detection and tracking processes.


Assuntos
Nanoestruturas , Nanoestruturas/química , Nanoestruturas/análise , Inocuidade dos Alimentos/métodos , Nanotecnologia/métodos , Contaminação de Alimentos/análise , Análise de Alimentos/métodos
8.
Nat Prod Res ; : 1-8, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38949574

RESUMO

This study aimed to evaluate the potential of Hedera colchica as an alternative to Hedera helix species for the treatment of mild inflammatory conditions of the upper respiratory tract and chronic inflammatory bronchial diseases. The H. colchica extract with the highest saponin content (C3S; 468.19 ± 16.01 mg HE/g dry weight) and the extract with the highest total phenol content (C1F; 108.60 ± 5.61 mg GAE/g dry weight). Chemical analysis and standardisation of the extract with the highest selective COX-2 inhibitory effect was performed using the LC-MS/MS technique. It was determined that the substances found in the highest ratio in the C1F extract were quinic acid (45.909 µg/g extract) and hesperidin (37.077 µg/g extract). As a result, secondary metabolites, in addition to saponins, found in Hedera species may also contribute to the extract's effectiveness, more potent extracts can be obtained compared to the total extract-containing preparations available in the market.

9.
Cranio ; : 1-8, 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38863170

RESUMO

OBJECTIVE: It was aimed to investigate the role of tonsil ultrasonography(USG) in the diagnosis of pediatric OSAS. METHODS: Before tonsillectomy (±adenoidectomy) for OSAS, all patients tonsil USG and polysomnography (PSG) tests were performed. Tonsil volume was measured preoperatively with the Brodsky tonsil grading scale and by postoperative water displacement test. RESULTS: In total, 47 patients were included in the study. We observed a positive correlation between tonsil volumes measured by preoperative USG and water displacement test postoperatively. There was a statistically significant correlation between tonsil sizes measured by tonsil USG, PSG AHI and questionnaire scores(p < .05). CONCLUSION: Preoperative tonsil USG may be helpful test in children with suspected OSAS.

10.
J Food Drug Anal ; 32(2): 194-212, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38934692

RESUMO

Investigation of utilization possibilities of natural sources has been an important area for research. Tyrosinase inhibitory activity plays a key role in food and medicine industry. Strawberry tree (Arbutus unedo), a widely distributed plant among Mediterranean countries, possess fruits and leaves with rich bioactive phytochemicals, especially polyphenolic compounds. In this study, we aimed to investigate the antityrosinase activity of the fruit and leaf extracts of the plant, and to determine the phenolic compounds that contribute to the antityrosinase activity. In this regard, we evaluated the effect of solvent composition on the extraction of phenolic compounds from A. unedo and on its antityrosinase activity using a simplex centroid design approach, and used chromatographic and LC-MS/MS techniques. The leaf extracts prepared using EtOH:water (50:50) provided higher TPC (456.39 mg GAE/g extract) and acetone:EtOH:water (33:33:33) provided higher TFC (56.15 mg QE/g extract) values than of fruit extracts. LC-MS/MS analysis revealed 23 phenolic/flavonoid compounds in leaf extracts (L1-8), and major metabolites were detected as quercitrin, quinic acid, catechin, tannic acid, isoquercitrin, gallic acid, and ellagic acid. Among the leaf extracts, L3 (aceton:water, 50:50) exhibited 72.01% tyrosinase inhibition at 500 µg/mL. After fractionation studies guided by antityrosinase activity, its subfraction L3-Fr2 exhibited 40.06% inhibition at 50 µg/mL concentration (IC50: 146 ± 7.75 µg/mL), and catechin (113.19 mg/g), tannic acid (53.14 mg/g), ellagic acid (22.14 mg/g), gallic acid (10.27 mg/g), and epicatechin gallate (8.65 mg/g) were determined as major metabolites. Its subfraction L3-Fr2-sub7 exhibited better antityrosinase activity (IC50: 206.23 ± 9.87 µg/mL), and quantitative analysis results revealed the presence of tannic acid (127.40 mg/g), gallic acid (13.96 mg/g), ellagic acid (7.66 mg/g), quercetin-3-O-glucuronide (5.06 mg/g), and quinic acid (3.2 mg/g) as major metabolites, and correlation analysis showed that ellagic acid and quinic acid were positively correlated with antityrosinase activity.


Assuntos
Frutas , Monofenol Mono-Oxigenase , Extratos Vegetais , Espectrometria de Massas em Tandem , Extratos Vegetais/química , Extratos Vegetais/farmacologia , Monofenol Mono-Oxigenase/antagonistas & inibidores , Frutas/química , Inibidores Enzimáticos/química , Inibidores Enzimáticos/farmacologia , Folhas de Planta/química , Cromatografia Líquida/métodos , Fenóis/química , Fenóis/análise , Fenóis/farmacologia , Cromatografia Líquida de Alta Pressão , Anacardiaceae/química , Flavonoides/análise , Flavonoides/farmacologia , Flavonoides/química , Espectrometria de Massa com Cromatografia Líquida
11.
Fam Cancer ; 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38822937

RESUMO

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, caused by germline variants in the serine/threonine kinase 11 (STK11) gene. However, mosaic variants in STK11 gene have been rarely described. A 25-year-old woman diagnosed with PJS due to multiple hamartomatous polyps in the gastrointestinal tract was referred to our clinic. In the molecular diagnosis, the patient was evaluated using the STK11 gene sequence analysis and multiplex ligation-dependent probe amplification (MLPA) method, which suggested no pathogenic variant to account for the clinical picture. Given that the clinical findings of the patient were consistent with those of PJS, the raw data from next-generation sequencing (NGS) were re-examined for mosaicism which led to the detection of a novel mosaic c.920 + 1G > T variant in STK11 gene with a rate of 23% (1860x). Deep read-level NGS was performed on buccal mucosa and polyp samples to determine mosaicism levels in other tissues. Variant frequencies were 29% (710x) and 31% (1301x), respectively. Mosaicism should be considered in cases with clear clinical diagnostic criteria, such as PJS, where the pathogenic variant cannot be detected by sequence analysis and MLPA methods. Identification of mosaicism in these patients is very important as it can have an impact on patient follow-up and genetic counseling for relatives.

12.
Food Chem ; 455: 139921, 2024 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-38843718

RESUMO

The pharmaceutical and nutraceutical potentials of whole fruit, pulp and seeds of Rosa pimpinellifolia L. were evaluated. Forty-two phenolic compounds and two triterpenoids were identified in extracts by LC-MS/MS and GC-MS, respectively. The most prominent compounds were ellagic acid, catechin, epicatechin, tannic acid, quercetin, oleanolic acid, and ursolic acid. The highest enzyme inhibitory activities of the extracts (94.83%) were obtained against angiotensin-converting enzyme and were almost equal to those of the commercial standard (lisinopril, 98.99%). Whole fruit and pulp extracts (IC50:2.47 and 1.52 µg DW/mL) exhibited higher antioxidant capacity than the standards (α-tocopherol, IC50:9.89 µg DW/mL). The highest antibacterial activity was obtained against Bacillus cereus (MIC: 256 µg/mL) for the whole fruit extract. Correlation analyses were conducted to find the correlation between individual phenolics and enzyme inhibitory activities. The results showed the remarkable future of not only the edible part but also the seeds of black rose hips in phytochemical and functional aspects.


Assuntos
Antibacterianos , Antioxidantes , Frutas , Compostos Fitoquímicos , Extratos Vegetais , Rosa , Sementes , Antioxidantes/farmacologia , Antioxidantes/química , Frutas/química , Antibacterianos/farmacologia , Antibacterianos/química , Extratos Vegetais/farmacologia , Extratos Vegetais/química , Sementes/química , Compostos Fitoquímicos/química , Compostos Fitoquímicos/farmacologia , Rosa/química , Inibidores da Enzima Conversora de Angiotensina/química , Inibidores da Enzima Conversora de Angiotensina/farmacologia , Fenóis/farmacologia , Fenóis/química
13.
Int J Biol Macromol ; 273(Pt 2): 132955, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38852733

RESUMO

In this study, 4-sulfo-1,8-naphthalimide calixarene of derivatives were prepared (3 and 4) then transparent biofilms of the Ag salts of these compounds were formed in the presence of hyaluronic acid (HA), and antimicrobial properties were investigated. In chemosensor studies, the sensing ability behavior of 3 and 4 towards some cations and anions was investigated by fluorescence spectroscopy. It was observed that the prepared chemosensors show selectivity towards Hg(II) and Cr(VI). Ligand-ion interaction occurs according to the photo-induced electron transfer (PET) mechanism. The stoichiometric ratio was calculated by using Stern-Volmer plot method and binding constant Ksv values were found as 5.2 × 107 M-1 and 5.5 × 107 M-1 for 3-Hg(II) and 4-Hg(II) complexes, respectively and 4.0 × 107 M-1 and 4.3 × 107 M-1 for 3-Cr(VI) and 4-Cr(VI) complexes. The detection limits of the complexes of 3-Hg(II) and 4-Hg(II) are 6.35 × 10-12and 6.81 × 10-12, while those of 3-Cr(VI) and 4-Cr(VI) are 1.41 × 10- 11and 8.37 × 10-12, respectively. As a result of the antimicrobial test performed with these compounds, it was observed that the most effective material was HA-3Ag, which showed a significant antibacterial effect against Sarcina lutea (S. lutea) at a minimum inhibitory concentration (MIC) value of 0.097 mg/mL.


Assuntos
Biofilmes , Calixarenos , Ácido Hialurônico , Mercúrio , Naftalimidas , Calixarenos/química , Calixarenos/farmacologia , Ácido Hialurônico/química , Ácido Hialurônico/farmacologia , Biofilmes/efeitos dos fármacos , Naftalimidas/química , Naftalimidas/farmacologia , Mercúrio/química , Cromo/química , Anti-Infecciosos/farmacologia , Anti-Infecciosos/química , Testes de Sensibilidade Microbiana , Espectrometria de Fluorescência , Antibacterianos/farmacologia , Antibacterianos/química , Fenóis/química , Fenóis/farmacologia , Fluorescência
14.
Indian J Psychiatry ; 66(5): 433-439, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38919566

RESUMO

Background: To determine the association between neurological soft signs, executive functions, and serum brain-derived neurotrophic factor (BDNF) levels in children with attention-deficit hyperactivity disorder (ADHD). Methods: Serum BDNF levels were measured in 87 drug-naive boys with ADHD, aged 7-12 years. The Revised Physical and Neurological Examination for Subtle Signs for neurological soft signs, Stroop Color-Word Test for attention functions, and Judgment of Line Orientation Test (JLOT) for visuospatial abilities were performed. Results: Age correlated negatively with dysrhythmia, total time, and total overflow in timed movements, Stroop Color-Word Time (SCWT), and serum BDNF levels. The JLOT significantly negatively correlated with Total Gaits and Stations (P1) and Total Time in Timed Movements (adjusted R 2 = 0.247). In addition, SCWT maintained a significant correlation with Total Overflow in Timed Movements (adjusted R 2 = 0.206). There was no correlation between serum BDNF levels and NSS. Conclusion: The association between NSS, visuospatial abilities, and selective attention may express a maturational delay in ADHD pathophysiology. Moreover, BDNF may play a role in this maturational delay. Future studies should investigate the contribution of BDNF to neuronal maturation in ADHD.

15.
Am J Med Genet A ; : e63806, 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38940262

RESUMO

Big data generated from exome sequencing (ES) and genome sequencing (GS) analyses can be used to detect actionable and high-penetrance variants that are not directly associated with the primary diagnosis of patients but can guide their clinical follow-up and treatment. Variants that are classified as pathogenic/likely pathogenic and are clinically significant but not directly associated with the primary diagnosis of patients are defined as secondary findings (SF). The aim of this study was to examine the frequency and variant spectrum of cancer-related SF in 2020 Turkish ES data and to discuss the importance of the presence of cancer-related SF in at-risk family members in terms of genetic counseling and follow-up. A total of 2020 patients from 2020 different families were evaluated by ES. SF were detected in 28 unrelated cases (1.38%), and variants in BRCA2 (11 patients) and MLH1 (4 patients) genes were observed most frequently. A total of 21 different variants were identified, with 4 of them (c.9919_9932del and c.3653del in the BRCA2 gene, c.2002A>G in the MSH2 gene, c.26_29del in the TMEM127 gene) being novel variations. In three different families, c.1189C>T (p.Gln397*) variation in BRCA2 gene was detected, suggesting that this may be a common variant in the Turkish population. This study represents the largest cohort conducted in the Turkish population, examining the frequency and variant spectrum of cancer-related SF. With the identification of frequent variations and the detection of novel variations, the findings of this study have contributed to the variant spectrum. Genetic testing conducted in family members is presented as real-life data, showcasing the implications in terms of counseling, monitoring, and treatment through case examples.

16.
Braz J Cardiovasc Surg ; 39(3): e20230376, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38748885

RESUMO

INTRODUCTION: Cyanotic congenital heart diseases constitute 40-45% of all congenital heart diseases. In patients who are not suitable for primary repair, modified BT (MBT) shunt and central shunt (CS) procedures are still frequently used. METHODS: This study included 62 pediatric patients who underwent MBT shunt or CS via median sternotomy. Patients' demographic, echocardiographic, operative, and postoperative data were collected retrospectively. The patients were classified as single ventricle and bi-ventricle according to their cardiac anatomy, and the presence of prematurity and heterotaxy was noted. Procedure details of the patients who underwent endovascular intervention prior to the surgery were investigated, and operation data were accessed from the surgery notes. Data regarding postoperative follow-ups were obtained and comparatively analyzed. RESULTS: Of the total 62 patients, 32 (51.6%) were newborns and 16 (25.8%) had a body weight < 3 kg. MBT shunt was applied to 48 patients (77.4%), while CS was applied to 14 patients (22.6%). There was no significant difference between the two surgical procedures in terms of requirement for urgent shunt or cardiopulmonary bypass, additional simultaneous surgical intervention, need for high postoperative inotropes, and in-hospital mortality (P>0.05). The rate of congestive heart failure in patients with in-hospital mortality was determined as 66.7% and it was significantly higher than in patients without heart failure (P<0.001). CONCLUSION: MBT shunt and CS are still frequently used in cyanotic patients. The use of small-diameter shunts, particularly when centrally located, can prevent the onset of congestive heart failure and lower mortality.


Assuntos
Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/cirurgia , Estudos Retrospectivos , Masculino , Feminino , Lactente , Recém-Nascido , Pré-Escolar , Resultado do Tratamento , Criança , Mortalidade Hospitalar , Cianose/etiologia , Cianose/cirurgia , Ecocardiografia
17.
Meat Sci ; 214: 109535, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38759327

RESUMO

In this study, the inhibitory effects of homemade hawthorn vinegar-based marinade on the formation of Nε-(carboxymethyl) lysine (CML) and Nε-(carboxyethyl) lysine (CEL) during the cooking of beef tenderloins investigated. Additionally, the goal was to determine the bioactive compounds present in hawthorn vinegar that could contribute to these effects, both quantitatively and qualitatively. For this purpose, hawthorn vinegar was first produced from hawthorn fruit and characterized. Then, beef tenderloins were marinated at two different concentrations (25% and 50%) and three different marination times (2, 6 and 24 h) and cooked in a airfryer at 200 °C for 12 min. After the cooking process, analyses were conducted for CML, CEL, thiobarbituric acid reactive substances (TBARS), sensory and color. Hawthorn vinegar was found to have high phytochemical and bioactivity properties. It was found that hawthorn vinegar significantly altered the color properties (L*, a*, and b*) of raw beef tenderloin samples (P < 0.05). The marinating process did not adversely affect the sensory properties of the beef tenderloin, other than odour, and even improved its texture and appearance. Increasing the marination concentration and time significantly inhibited CML and CEL formation (P < 0.05), marinating the meat for 24 h reduced CML formation from 13.75 µg/g to 2.5 µg/g, while CEL formation decreased from 17.58 µg/g to 16.63 µg/g. Although CEL was inhibited at low levels during marination, it remained stable. In conclusion, this study showed that hawthorn vinegar contains bioactive compounds that significantly inhibit the formation of CML and stabilize the formation of CEL.


Assuntos
Ácido Acético , Cor , Culinária , Crataegus , Lisina , Animais , Lisina/análogos & derivados , Bovinos , Crataegus/química , Humanos , Carne Vermelha/análise , Substâncias Reativas com Ácido Tiobarbitúrico/análise , Paladar , Frutas/química
18.
Rev Assoc Med Bras (1992) ; 70(5): e20231626, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38775513

RESUMO

OBJECTIVE: This study aimed to compare the effectiveness of resection and extended end-to-end anastomosis between neonate and infant patients with coarctation. METHODS: This study was designed retrospectively and included 41 neonate (<30 days) and infant (30 days to 1 year) patients who were operated on using the resection and extended end-to-end anastomosis technique for aortic coarctation. Preoperative aortic annulus diameters and Z scores, all aortic arch diameters and Z scores, the presence of hypoplastic aortic segment, and the presence of prematurity were reviewed in both groups. Subsequently, we investigated whether these parameters were statistically related to the residual gradient in the operation area, whether there was a need for early re-intervention, and what was the incidence of mortality in the early postoperative period. In addition, the aortic arch Z scores of the patients at 6 months postoperatively were examined. RESULTS: While the mean age (p<0.001), body weight (p<0.001), and proximal arch Z score (p=0.029) were found to be significantly lower in the neonate group than in the infant group, the total length of the intensive care unit stay (p=0.013) and the total length of hospital stay (p=0.017) were found to be significantly higher. In addition, significant enlargement was detected in the proximal arch, distal arch, and isthmus segments in both patient groups. CONCLUSION: The resection and extended end-to-end anastomosis is an equally effective technique that can provide a marked decrease in gradient in the coarctation area and a significant enlargement of the aortic arch segments in the early period after coarctation repair in both neonate and infant patients.


Assuntos
Coartação Aórtica , Tempo de Internação , Humanos , Coartação Aórtica/cirurgia , Recém-Nascido , Lactente , Resultado do Tratamento , Estudos Retrospectivos , Feminino , Masculino , Anastomose Cirúrgica/métodos , Aorta Torácica/cirurgia , Fatores Etários
19.
Am J Manag Care ; 30(5): e140-e146, 2024 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-38748914

RESUMO

OBJECTIVES: Patients undergoing cardiac surgery are considered at high risk for developing drug-related problems (DRPs) due to comorbidities and complexity of drug treatment. This study aimed to identify DRPs in patients undergoing cardiac surgery and to develop and implement a framework to reduce potential risks associated with drug treatment. STUDY DESIGN: Prospectively designed quasi-experimental study. METHODS: This study consisted of observational (risk assessment and framework development) and interventional (framework implementation) periods and was conducted at a department of cardiovascular surgery in a university hospital. An expert panel evaluated the causes of DRPs. Then a framework was developed in consensus to identify safeguards to be implemented during the interventional period. RESULTS: A total of 200 patients (100 patients per study period) were included. During the observational period, a total of 275 DRPs and 487 causes were identified; 74.5% of DRPs were not solved. For the risk analysis, 487 causes were evaluated and only 32.6% were considered acceptable risk. By implementing the framework in the interventional period, 215 DRPs and 304 causes were identified and 386 interventions were recommended by a clinical pharmacist. A total of 342 (88.6%) interventions were accepted by a health care team, and 128 (59.5%) DRPs were completely solved. For the risk analysis, 304 causes were evaluated and 84.9% were considered acceptable risk ( P < .001 compared with the observational period). CONCLUSIONS: It is possible to reduce risk levels or prevent occurrence of DRPs by implementing a framework for risk management developed by a multidisciplinary care team in areas such as cardiac surgery where time is limited.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Humanos , Medição de Risco , Masculino , Feminino , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Estudos Prospectivos , Idoso , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Pessoa de Meia-Idade
20.
Med Mycol ; 62(5)2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38627248

RESUMO

Although Candida species are the most common cause of fungemia, non-Candida rare yeasts (NCY) have been increasingly reported worldwide. Although the importance of these yeast infections is recognized, current epidemiological information about these pathogens is limited, and they have variable antifungal susceptibility profiles. In this study, we aimed to evaluate the clinical characteristics for fungemia caused by NCY by comparing with candidemia. The episodes of NCY fungemia between January 2011 and August 2023 were retrospectively evaluated in terms of clinical characteristics, predisposing factor, and outcome. In addition, a candidemia group, including patients in the same period was conducted for comparison. Antifungal susceptibility tests were performed according to the reference method. A total of 85 patients with fungemia episodes were included: 25 with NCY fungemia and 60 with candidemia. Fluconazole had high minimal inhibitory concentration (MIC) values against almost all NCY isolates. The MIC values for voriconazole, posaconazole, and amphotericin B were ≤ 2 µg/ml, and for caspofungin and anidulafungin were ≥ 1 µg/ml against most of isolates. Hematological malignancies, immunosuppressive therapy, neutropenia and prolonged neutropenia, polymicrobial bacteremia/fungemia, preexposure to antifungal drugs, and breakthrough fungemia were associated with NCY fungemia, whereas intensive care unit admission, diabetes mellitus, urinary catheters, and total parenteral nutrition were associated with candidemia. In conclusion, the majority of fungemia due to NCY species was the problem, particularly in hematology units and patients with hematological malignancy. Preexposure to antifungal drugs likely causes a change in the epidemiology of fungemia in favor of non-albicans Candida and/or NCY.


Among all fungemia episodes, hematological malignancies, immunosuppressive therapy, neutropenia, and preexposure to antifungals were risk factors for non-Candida yeast fungemia; diabetes mellitus, urinary catheters, and total parenteral nutrition were risks for candidemia.


Assuntos
Antifúngicos , Candida , Candidemia , Fungemia , Testes de Sensibilidade Microbiana , Centros de Atenção Terciária , Humanos , Estudos Retrospectivos , Centros de Atenção Terciária/estatística & dados numéricos , Antifúngicos/farmacologia , Antifúngicos/uso terapêutico , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Candida/efeitos dos fármacos , Candida/isolamento & purificação , Candida/classificação , Fungemia/microbiologia , Fungemia/epidemiologia , Fungemia/tratamento farmacológico , Adulto , Candidemia/microbiologia , Candidemia/epidemiologia , Candidemia/tratamento farmacológico , Leveduras/isolamento & purificação , Leveduras/efeitos dos fármacos , Leveduras/classificação , Idoso de 80 Anos ou mais , Fluconazol/farmacologia , Fluconazol/uso terapêutico , Adulto Jovem
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