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1.
Mol Biol Rep ; 51(1): 580, 2024 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-38668754

RESUMEN

OBJECTIVE: Superoxide dismutase 1 (SOD1) is an important antioxidant enzyme whose main function is to neutralise superoxide free radicals in the cytoplasm. Heterozygous variants in SOD1 are responsible for a substantial percentage of familial amyotrophic lateral sclerosis (ALS) cases. Recently, several reports have shown that biallelic loss of SOD1 function results in a novel phenotype called infantile SOD1 deficiency syndrome, which is consistent with a recessive pattern of inheritance and can be distinguished from typical (adult-onset) ALS. METHODS: We documented detailed family histories and clinical data, followed by whole-exome sequencing and family co-segregation analysis through Sanger sequencing. To facilitate comparisons, relevant data from fifteen previously reported patients with SOD1-related neurodevelopmental disorders were included. RESULTS: This study presents a new Turkish family with two affected children exhibiting severe delayed motor development, infancy-onset loss of motor skills, axial hypotonia, tetraspasticity, and impaired cognitive functions. Genetic analysis revealed a novel homozygous frameshift variant in SOD1 (c.248dupG [p.Asp84Argfs*8]), with computational biochemical studies shedding light on the mechanistic aspects of SOD1 dysfunction. CONCLUSIONS: Our findings contribute an affirmative report of a fourth biallelic variant resulting in a severe clinical phenotype, reminiscent of those induced by previously identified homozygous loss-of-function SOD1 variants. This research not only advances our understanding of the pathogenesis of this debilitating neurological syndrome but also aligns with ongoing intensive efforts to comprehend and address SOD1-linked ALS.


Asunto(s)
Secuenciación del Exoma , Homocigoto , Linaje , Fenotipo , Superóxido Dismutasa-1 , Humanos , Superóxido Dismutasa-1/genética , Masculino , Femenino , Secuenciación del Exoma/métodos , Esclerosis Amiotrófica Lateral/genética , Preescolar , Lactante , Turquia , Niño
2.
Radiat Oncol ; 19(1): 49, 2024 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-38627747

RESUMEN

OBJECTIVE: This study evaluates various craniospinal irradiation (CSI) techniques used in Turkish centers to understand their advantages, disadvantages and overall effectiveness, with a focus on enhancing dose distribution. METHODS: Anonymized CT scans of adult and pediatric patients, alongside target volumes and organ-at-risk (OAR) structures, were shared with 25 local radiotherapy centers. They were tasked to develop optimal treatment plans delivering 36 Gy in 20 fractions with 95% PTV coverage, while minimizing OAR exposure. The same CT data was sent to a US proton therapy center for comparison. Various planning systems and treatment techniques (3D conformal RT, IMRT, VMAT, tomotherapy) were utilized. Elekta Proknow software was used to analyze parameters, assess dose distributions, mean doses, conformity index (CI), and homogeneity index (HI) for both target volumes and OARs. Comparisons were made against proton therapy. RESULTS: All techniques consistently achieved excellent PTV coverage (V95 > 98%) for both adult and pediatric patients. Tomotherapy closely approached ideal Dmean doses for all PTVs, while 3D-CRT had higher Dmean for PTV_brain. Tomotherapy excelled in CI and HI for PTVs. IMRT resulted in lower pediatric heart, kidney, parotid, and eye doses, while 3D-CRT achieved the lowest adult lung doses. Tomotherapy approached proton therapy doses for adult kidneys and thyroid, while IMRT excelled for adult heart, kidney, parotid, esophagus, and eyes. CONCLUSION: Modern radiotherapy techniques offer improved target coverage and OAR protection. However, 3D techniques are continued to be used for CSI. Notably, proton therapy stands out as the most efficient approach, closely followed by Tomotherapy in terms of achieving superior target coverage and OAR protection.


Asunto(s)
Irradiación Craneoespinal , Radioterapia Conformacional , Radioterapia de Intensidad Modulada , Adulto , Humanos , Niño , Dosificación Radioterapéutica , Planificación de la Radioterapia Asistida por Computador/métodos , Irradiación Craneoespinal/métodos , Turquia , Radioterapia Conformacional/métodos , Radioterapia de Intensidad Modulada/métodos
4.
Sci Rep ; 14(1): 5321, 2024 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-38438442

RESUMEN

We conducted a series of experimental investigations to generate laser-stimulated millimeter bubbles (MBs) around silver nanoparticles (AgNPs) and thoroughly examined the mechanism of bubble formation within this nanocomposite system. One crucial aspect we explored was the lifetime and kinetics of these bubbles, given that bubbles generated by plasmonic nanoparticles are known to be transient with short durations. Surprisingly, our findings revealed that the achieved lifetime of these MBs extended beyond seven days. This impressive longevity far surpasses what has been reported in the existing literature. Further analysis of the experimental data uncovered a significant correlation between bubble volume and its lifetime. Smaller bubbles demonstrated longer lifetimes compared to larger ones, which provided valuable insights for future applications. The experimental results not only confirmed the validity of our model and simulations but also highlighted essential characteristics, including extended lifetime, matching absorption coefficients, adherence to physical boundary conditions, and agreement with simulated system parameters. Notably, we generated these MBs around functionalized AgNPs in a biocompatible nanocomposite medium by utilizing low-power light excitation. By readily binding potent cancer drugs to AgNPs through simple physical mixing, these medications can be securely encapsulated within bubbles and precisely guided to targeted locations within the human body. This capability to deliver drugs directly to the tumor site, while minimizing contact with healthy tissues, can lead to improved treatment outcomes and reduced side effects, significantly enhancing the quality of life for cancer patients.


Asunto(s)
Antineoplásicos , Nanopartículas del Metal , Humanos , Calidad de Vida , Plata , Estado de Salud
5.
PeerJ Comput Sci ; 10: e1818, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38435576

RESUMEN

Teaching computer architecture (Comp-Arch) courses in undergraduate curricula is becoming more of a challenge as most students prefer software-oriented courses. In some computer science/engineering departments, Comp-Arch courses are offered without the lab component due to resource constraints and differing pedagogical priorities. This article demonstrates how students working in teams are motivated to study the Comp-Arch course and how instructors can increase student motivation and knowledge by taking advantage of hands-on practices. The teams are asked to design and implement a 16-bit MIPS-like processor with constraints as a specific instruction set, and limited data and instruction memory. Student projects include following three phases, namely, design, desktop simulator implementation, and verification using hardware description language (HDL). In the design phase, teams develop their Comp-Arch to implement specified instructions. A range of designs resulted, e.g., (a) a processor with extensive user-defined instructions resulting in longer cycle times (b) a processor with a minimal instruction set but with a faster clock cycle time. Next, teams developed a desktop simulator in any programming language to execute instructions on the architecture. Finally, students engage in Verilog Hardware Description Language (HDL) projects to simulate and verify the data-path designed during the initial phase. Student feedback and their current understanding of the project were collected through a questionnaire featuring varying Likert scale questions, some with a ten-point scale, and others with a five-point scale. Results of the survey show that the hands-on approach increases students' motivation and knowledge in the Comp-Arch course, which is centered around computer system design principles. This approach can also be effectively extended to related courses, such as Microprocessor Design, which delves into the intricacies of creating and implementing microprocessors or central processing units (CPUs) at the hardware level. Furthermore, the present study demonstrates that interactions, specifically through peer reviews and public presentations, between students in each phase increases their knowledge and perspective on designing custom processors.

6.
Genes Genomics ; 46(5): 613-620, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38363456

RESUMEN

BACKGROUND: Nemaline Myopathy (NM) is a rare genetic disorder that affects muscle function and is characterized by the presence of nemaline rods in muscle fibers. These rods are abnormal structures that interfere with muscle contraction and can cause muscle weakness, respiratory distress, and other complications. NM is caused by variants in several genes, including TNNT1, which encodes the protein troponin T1. NM is inherited in an autosomal recessive pattern. The prevalence of heterozygous TNNT1 variants has been reported to be 1/152,000, indicating that the disease is relatively rare. OBJECTIVE: Investigation of TNNT1 gene variants that may cause cretin kinase elevation. METHODS: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and family segregation was done by Sanger sequencing. RESULTS: In this study, we report a 5-year-old girl with a novel variant recessive congenital TNNT1 myopathy. The patient had a novel homozygous (c.271_273del) deletion in the TNNT1 gene that is associated with creatine kinase elevation, which is a marker of muscle damage. CONCLUSION: This case expands the phenotypic spectrum of TNNT1 myopathy and highlights the importance of genetic testing and counseling for families affected by this rare disorder. In this study provides valuable insights into the genetic basis of NM and highlights the importance of early diagnosis and management for patients with this rare disorder. Further research is needed to better understand the pathophysiology of TNNT1 myopathy and to develop effective treatments for this debilitating condition.


Asunto(s)
Miopatías Nemalínicas , Femenino , Humanos , Preescolar , Miopatías Nemalínicas/genética , Miopatías Nemalínicas/diagnóstico , Creatina Quinasa/genética , Homocigoto , Pruebas Genéticas , Troponina T/genética
7.
Mol Syndromol ; 15(1): 1-13, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38357258

RESUMEN

Introduction: Alport syndrome (AS) is an inherited, rare, progressive kidney disease that affects the eye and ear physiology. Pathogenic variants of COL4A5 account for 85% of all cases, while COL4A3 and COL4A4 account for the remaining 15%. Methods: Targeted next-generation sequencing of the COL4A3, COL4A4, and COL4A5 genes was performed in 125 Turkish patients with AS. The patients were compared to 45 controls and open-access population data. Results: The incidence of AS variants in patients was found as 21.6%. 27 variants were identified as pathogenic/likely pathogenic, 28 as variant of uncertain significance, and 52 as benign/likely benign. We also found 31 novel variants (14 in COL4A3, 6 in COL4A4, and 11 in COL4A5) of which 27 were classified as pathogenic/likely pathogenic. Pathogenic/likely Pathogenic variants were most commonly found in the COL4A5 gene, consistent with the literature. This study contributed novel variants associated with AS to the literature. Conclusion: Genetic testing is a crucial part for the diagnosis and management of AS. Studies on the genetic etiology of AS are limited for the Turkish population. We believe that this study will contribute to the literature and the clinical decision-making process of patients with AS and emphasize the importance of genetic counseling.

10.
J Pediatr Hematol Oncol ; 46(2): e205-e207, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38113229

RESUMEN

Mediastinal radiotherapy for childhood cancers, particularly Hodgkin disease, has numerous potential adverse effects, including coronary artery disease, pericarditis, cardiomyopathy, valvular disease, and conduction abnormalities. The prevalence of valvular stenosis is relatively low, and regurgitation is more common. Mediastinal radiotherapy-induced valvular disease develops more than 10 years after radiotherapy. Here, we present a case of a 6-year-old boy with moderate to significant mitral stenosis + moderate mitral regurgitation and mild aortic regurgitation that appeared 1.5 months after radiotherapy and showed a progressive course.


Asunto(s)
Enfermedades de las Válvulas Cardíacas , Enfermedad de Hodgkin , Estenosis de la Válvula Mitral , Masculino , Humanos , Niño , Enfermedad de Hodgkin/radioterapia , Enfermedad de Hodgkin/etiología , Enfermedades de las Válvulas Cardíacas/etiología , Estenosis de la Válvula Mitral/etiología , Mediastino , Constricción Patológica , Radioterapia/efectos adversos
11.
Diagnostics (Basel) ; 13(24)2023 Dec 12.
Artículo en Inglés | MEDLINE | ID: mdl-38132235

RESUMEN

In this cross-sectional study, optical coherence tomography angiography (OCT-A) findings were compared in patients with gout (n = 30) and healthy participants (n = 32). The superficial and deep vessel density variables measured using OCT-A were compared between the groups. The superficial foveal and perifoveal vessel densities of the patient group were lower than those of the healthy participants (p = 0.014 and p = 0.045, respectively). However, all superficial and parafoveal vessel densities were similar in both groups (p = 0.469 and p = 0.284, respectively). The deep capillary plexus density measurements of the whole-zone, foveal, parafoveal, and perifoveal vessel densities using OCT-A revealed no significant differences between the groups (p = 0.251, p = 0.074, p = 0.177, and p = 0.881, respectively). A higher serum uric acid (SUA) level was found to be independently associated with a decreased superficial capillary plexus density and an increased choriocapillary flow deficit in the study population. Men were less sensitive to high SUA levels than women. These findings suggest that an elevated uric acid concentration may play a role in the development and progression of cardiovascular disease through changes in the microvasculature, as shown by the OCT-A parameters.

12.
Turk J Ophthalmol ; 53(4): 200-205, 2023 08 19.
Artículo en Inglés | MEDLINE | ID: mdl-37602549

RESUMEN

Objectives: To evaluate sarcoidosis-induced tear film changes using subjective and objective diagnostic tests, particularly conjunctival impression cytology (IC), and to compare the results with healthy individuals. Materials and Methods: This study evaluated clinical data collected between January 2019 and January 2021 from 57 right eyes of 57 sarcoidosis patients without ocular involvement (Group 1) and 33 right eyes of 33 healthy individuals with similar demographic characteristics (Group 2). The Schirmer I test, tear break-up time (TBUT), fluorescein staining, and conjunctival IC were all performed as part of the conjunctival and corneal examinations following a thorough ophthalmological examination. The Ocular Surface Disease Index (OSDI) was used to assess subjective ocular symptoms. Results: The mean ages in Groups 1 and 2 were 49.26±3.18 and 51.91±2.89 years, respectively (p=0.720). The mean Schirmer I test, TBUT, and OSDI scores differed significantly (p<0.05 for all), with Group 1 having a significantly higher percentage of dry eyes than Group 2. Group 1 had significantly higher Nelson's grading system grades than Group 2 based on conjunctival IC analysis (p=0.001). There were no significant differences in visual acuity (p=0.17) or intraocular pressure (p=0.14) between groups. Conclusion: Sarcoidosis patients had significantly higher Nelson grades in conjunctival IC, as well as significantly higher percentages of dry eye as determined by the Schirmer I test, TBUT, and OSDI. Reduced tear quantity and quality may destabilize the tear film layer, resulting in a variety of ocular symptoms.


Asunto(s)
Conjuntiva , Síndromes de Ojo Seco , Sarcoidosis , Sarcoidosis/diagnóstico , Lágrimas , Humanos , Persona de Mediana Edad , Citología , Estudios Retrospectivos
13.
Photodiagnosis Photodyn Ther ; 43: 103750, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37579909

RESUMEN

BACKGROUND: To determine the effects of protein supplement (whey protein powder (PP)) on retinal, choroidal and optic nerve head (ONH) microstructure and microvascular morphology in healthy bodybuilders. METHODS: This cross-sectional study included 23 male adults (consumers, 23 right eyes) who had been routinely consuming whey PP for bodybuilding purposes for ≥ 3 months, and 21 age- and gender-matched healthy volunteers (non-consumers, 21 right eyes) who also attended the gym but did not consume any nutritional supplements. Participants underwent standard ocular exams, enhanced depth imaging optical coherence tomography (EDI OCT), and optical coherence tomography angiography (OCTA) after ≥ 8 h of rest and fasting. RESULTS: Whey PP was consumed for a median of 9.5 (6-12) months. Whey PP consumers had a median age of 22 (21-22) years, while non-consumers had 21 (20-22) years (p = 0.067). Whey PP consumers had greater microstructural thickness than non-consumers, with subfoveal choroidal thickness (301.40 ± 38.91 versus 278.12 ± 33.58 µm; p = 0.035) being significantly different but not central macular thickness (270.55 ± 24.60 versus 265.85 ± 12.44 µm; p = 0.402). Despite a non-significant difference in superficial and deep capillary plexus vascular densities (VDs), whey PP consumers had relatively lower VDs than non-consumers in all macular regions (p > 0.05). Despite this, whey PP consumers displayed greater ONH VDs, as well as higher global RNFL thickness (116.75 ± 10.41 versus 114.50 ± 11.70 µm) than non-consumers (p > 0.05). CONCLUSION: Protein supplements, particularly whey PPs, appear to be associated with different changes in the retina and choroid, as well as ONH microstructural and microvascular morphology, implying that paying attention to these clinical aspects when performing ocular tests in bodybuilders who consume nutritional supplements could be critical.


Asunto(s)
Coroides , Suplementos Dietéticos , Disco Óptico , Retina , Proteína de Suero de Leche , Humanos , Masculino , Adulto Joven , Coroides/diagnóstico por imagen , Coroides/patología , Estudios Transversales , Disco Óptico/diagnóstico por imagen , Disco Óptico/patología , Retina/diagnóstico por imagen , Retina/patología , Tomografía de Coherencia Óptica/métodos , Proteína de Suero de Leche/administración & dosificación , Proteína de Suero de Leche/efectos adversos , Suplementos Dietéticos/efectos adversos , Atletas
14.
Photodiagnosis Photodyn Ther ; 43: 103720, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37487811

RESUMEN

BACKGROUND: To assess retinochoroidal and optic nerve head microcirculation alterations in cryptogenic organizing pneumonia. METHODS: Thirty cryptogenic organizing pneumonia patients in the resolution phase (group 1, 30 right eyes) and 33 healthy subjects (group 2, 33 right eyes) were compared. Patients had 40 mg/day corticosteroids for 8-10 days, and a pulmonary function test, which revealed only minimally restrictive ventilation features. After gathering demographic data, a comprehensive ophthalmological exam and optical coherence tomography angiography were performed three months following maximum disease resolution with corticosteroid therapy RESULTS: Groups 1 and 2 had mean ages of 54.37±14.87 and 49.61±12.36 years, respectively (P = 0.171). Despite the lack of statistical significance, superficial and deep capillary plexus vessel densities in all macular regions were lower in group 1, as were foveal avascular zone parameters (P>0.05). However, the outer retinal and choriocapillaris flows increased significantly in group 1, especially in select areas (P<0.001, for both). There were no significant differences in whole image (P = 0.346), inside disk (P = 0.438), or peripapillary (P = 0.185) optic nerve head vessel densities between the two groups; however, nasal (P<0.001) and inferior quadrant (P = 0.006) vessel densities differed significantly. Global retinal nerve fiber layer thickness did not differ significantly between groups 1 and 2 (112.83±14.71 versus 111.45±12.74 µm, respectively; P = 0.692). Group 1, however, had significantly higher superior, nasal, and inferior quadrant, and significantly lower temporal quadrant retinal nerve fiber layer thickness (P<0.001, for all). CONCLUSIONS: Concerning the impact of probable cryptogenic organizing pneumonia-induced hypoxia on ocular tissues, optical coherence tomography angiography assessments of retinochoroidal and optic nerve head microcirculation could be employed as a biomarker for cerebral microcirculation.


Asunto(s)
Disco Óptico , Neumonía Organizada , Fotoquimioterapia , Humanos , Adulto , Persona de Mediana Edad , Anciano , Disco Óptico/diagnóstico por imagen , Disco Óptico/irrigación sanguínea , Tomografía de Coherencia Óptica/métodos , Microcirculación , Fotoquimioterapia/métodos , Fármacos Fotosensibilizantes , Angiografía con Fluoresceína/métodos
15.
Water Sci Technol ; 87(11): 2742-2755, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37318921

RESUMEN

Predicting missing historical or forecasting streamflows for future periods is a challenging task. This paper presents open-source data-driven machine learning models for streamflow prediction. The Random Forests algorithm is employed and the results are compared with other machine learning algorithms. The developed models are applied to the Kizilirmak River, Turkey. First model is built with streamflow of a single station (SS), and the second model is built with streamflows of multiple stations (MS). The SS model uses input parameters derived from one streamflow station. The MS model uses streamflow observations of nearby stations. Both models are tested to estimate missing historical and predict future streamflows. Model prediction performances are measured by root mean squared error (RMSE), Nash-Sutcliffe efficiency (NSE), coefficient of determination (R2), and percent bias (PBIAS). The SS model has an RMSE of 8.54, NSE and R2 of 0.98, and PBIAS of 0.7% for the historical period. The MS model has an RMSE of 17.65, NSE of 0.91, R2 of 0.93, and PBIAS of -13.64% for the future period. The SS model is useful to estimate missing historical streamflows, while the MS model provides better predictions for future periods, with its ability to better catch flow trends.


Asunto(s)
Bosques Aleatorios , Ríos , Turquia , Algoritmos , Predicción
16.
Photodiagnosis Photodyn Ther ; 43: 103657, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37336467

RESUMEN

BACKGROUND: To investigate retinal and optic disc (OD) microvascular morphological changes in erythemato-telangiectatic rosacea (ETR) patients using optical coherence tomography angiography (OCTA), and compare the findings to age- and gender-matched healthy individuals. METHODS: This study included newly diagnosed 31 ETR patients (31 right eyes, group 1) who were clinically diagnosed by two experienced dermatologists. A control group had 32 healthy individuals (32 right eyes, group 2). Demographic data, including age and gender were collected, followed by a thorough ophthalmologic exam. A 6 × 6 mm macular OCTA analysis of superficial and deep capillary plexus (SCP and DCP) vessel densities (VDs), as well as foveal avascular zone (FAZ) area, FAZ perimeter (PERIM), foveal VDs 300 µm area around FAZ (FD-300), and flow areas in the outer retinal and choriocapillaris, was then performed. RESULTS: Mean age in groups 1 and 2 was 43.70 ± 13.02 and 43.62 ± 12.30 years, respectively (p=0.979). Male-to-female ratio in group 1 was 4:27 and 4:28 in group 2. Capillary flow analysis revealed slightly higher values in group 1 than in group 2, with the former having a significantly higher select area in the outer retinal layer (p=0.001) and flow area in the choriocapillaris (p=0.002). Despite slightly higher values in group 1, there were no significant differences in SCP and DCP VDs (p > 0.05), FAZ area (p=0.471), PERIM (p=0.778), or FD-300 (p=0.527). CONCLUSIONS: ETR appears to be associated with posterior segment changes, especially retinal microvascular morphology, even in asymptomatic ocular conditions. Given the disease's high rate of misdiagnosis, understanding rosacea-induced ocular manifestations is critical for ophthalmologists.


Asunto(s)
Disco Óptico , Fotoquimioterapia , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Angiografía con Fluoresceína/métodos , Vasos Retinianos/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Fotoquimioterapia/métodos , Fármacos Fotosensibilizantes
17.
Acta Pharm ; 73(2): 257-268, 2023 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-37307370

RESUMEN

This retrospective observational study is aimed to determine the efficacy of BNT162b2 (Pfizer-BioNTech) and CoronaVac (Sinovac) vaccines against symptomatic or severe disease in COVID-19-diagnosed patients. The secondary aim was to define the differences between vaccinated and un-vaccinated patients in terms of age, comorbidities and course of the disease, and to determine the survival rates. Of the 1463 PCR-positive patients, 55.3 % were vaccinated, and 44.7 % were unvaccinated. While 959 patients had mild-moderate symptoms, 504 patients had severe-critical symptoms and were treated in the intensive care unit. There was a statistically significant difference in the distribution of the type and doses of vaccines between the patient groups (p = 0.021). The rate of receiving 2 doses of Biontech was 18.9 % in the mild-moderate patient group but lower in the severe patient group (12.6 %). The rate of two doses of Sinovac and two doses of Biontech vaccine (four doses of vaccine) was 5 % in the mild-moderate patient group and 1.9 % in the severe patient group. The mortality rates were statistically significantly different (p < 0.001) between the patient groups: 65.3 % in the severe patient group and 1 % in the mild-moderate patient group. The multivariate model showed that the mortality risk of the unvaccinated patients was 1.5 times higher than the vaccinated ones (p = 0.042). In addition to being unvaccinated, advanced age, coronary artery disease (CAD), diabetes mellitus (DM), chronic obstructive pulmonary disease (COPD), chronic kidney disease (CKD), and obesity were found to be associated with higher mortality risk. Besides, the reduction in mortality rate was more evident in individuals vaccinated with at least 2 doses of the BNT162b2 (Pfizer-BioNTech) vaccine than in CoronaVac group.


Asunto(s)
COVID-19 , Enfermedad Pulmonar Obstructiva Crónica , Humanos , Vacuna BNT162 , Vacunas contra la COVID-19
18.
J Pediatr Endocrinol Metab ; 36(6): 602-607, 2023 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-37042746

RESUMEN

OBJECTIVES: GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by beta-galactosidase deficiency encoded by GLB1. It is mainly characterized by progressive neurodegeneration due to accumulation of glycosphingolipids in central nervous system and classified into 3 forms according to the age of onset and severity of symptoms. CASE PRESENTATION: In this study, we described the demographic, clinical, molecular, biochemical characteristics of 4 patients from 3 unrelated families diagnosed with GM1-gangliosidosis. The ages of the patients included in the study were between 5 months and 10 years old and all were male. All families had third degree consanguinity. Two of the patients were diagnosed as infantile type and the other two siblings were diagnosed as juvenile type. Infantile type patients had coarse facial appearance, developmental delay and early neurodegeneration. Juvenile type patients had mild motor and cognitive developmental delays at the beginning, but they did not have coarse facial features. Cherry-red macula and cardiac involvement were detected in only one infantile patient, while hepatomegaly was present in both infantile type patients. Beta galactosidase enzyme levels were extremely low in all patients and two novel variants were identified in GLB1. CONCLUSIONS: In this study, we identified four patients with different phenotypic features and two new mutations. GM1 gangliosidosis shows clinical heterogeneity according to age of onset. In some patients, developmental delay can be seen before the loss of gained functions. Therefore, this disorder should be kept in mind in patients with developmental delay who have not yet started neurodegeneration. There is no curative treatment for the disease yet, but ongoing gene therapy studies are promising for curing the disease in the future.


Asunto(s)
Gangliosidosis GM1 , Enfermedades por Almacenamiento Lisosomal , Humanos , Masculino , Femenino , Gangliosidosis GM1/genética , Gangliosidosis GM1/diagnóstico , Gangliósido G(M1) , Mutación
19.
Turk J Ophthalmol ; 53(2): 105-110, 2023 04 20.
Artículo en Inglés | MEDLINE | ID: mdl-37089021

RESUMEN

Objectives: To assess hearing function in chronic glaucoma patients in comparison to healthy individuals. Materials and Methods: This cross-sectional study included 24 primary open-angle glaucoma (POAG) patients (24 ears) and 22 pseudoexfoliative glaucoma (PEG) patients (22 ears) who were followed for at least 5 years in the Afyonkarahisar Health Sciences University Ophthalmology Department, as well as 21 age- and gender-matched healthy individuals (21 ears, control group). Following a thorough ophthalmological examination that included visual acuity and intraocular pressure measurements, as well as anterior and posterior slit-lamp biomicroscopy, audiometry was performed in all participants to determine hearing function. Results: Mean ages in the POAG, PEG, and control groups were 64.50±7, 66.90±4.51, and 64.38±4.36 years, respectively. The mean deviation in standard automated perimetry was -14.47±2.89 in the POAG group and -15.02±2.87 in the PEG group (p=0.306). When compared with the control group, the POAG group had significantly higher hearing thresholds at 500 (p=0.011) and 1,000 Hz (p=0.003), while the PEG group had significantly higher hearing thresholds at 250 (p=0.009), 500 (p=0.009), 1,000 (p=0.001), 2,000 (p=0.005), 4,000 (p=0.001), 8000 (p=0.010), and 10,000 Hz (p=0.009). Conclusion: Both glaucoma and hearing loss are common chronic diseases that have an impact on the well-being of older people. Potential hearing problems in chronic glaucoma patients make routine ocular and otolaryngology examinations in older patients critical for prompt diagnosis and treatment.


Asunto(s)
Glaucoma de Ángulo Abierto , Glaucoma , Pérdida Auditiva Sensorineural , Humanos , Anciano , Glaucoma de Ángulo Abierto/complicaciones , Glaucoma de Ángulo Abierto/diagnóstico , Presión Intraocular , Campos Visuales , Estudios Transversales , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/diagnóstico , Audiometría
20.
Med Lav ; 114(2): e2023020, 2023 Apr 13.
Artículo en Inglés | MEDLINE | ID: mdl-37057355

RESUMEN

BACKGROUND: To examine firefighters (FFs) exposed to high levels of fire smoke and, as a result, to uncover risk factors for dry eye disorder (DED) compared to age-and gender-matched healthy individuals. METHODS: In this cross-sectional study, 51 FFs from the Afyonkarahisar Municipality Fire Department were chosen at random (group 1). A control group (group 2) included 51 age- and gender-matched healthy individuals. The Ocular Surface Disease Index (OSDI) questionnaire was administered after all participants were thoroughly explained the study's objectives and procedures. Then, using a portable hand biomicroscope, an ocular exam was performed on-site. DED was defined as a non-anesthetic Schirmer test result of <10 mm and/or a tear film break-up time (TBUT) of <5 seconds. RESULTS: Groups 1 and 2 had mean ages of 44.82±7.29 and 44.73±7.41 years, respectively (p=0.946). The median work duration in group 1 was 14 years (min-max: 1-27 years). TBUT test revealed a significantly increased DED prevalence in group 1 than group 2 (p=0.046). Despite the non-significant difference (p=0.276), Schirmer test revealed that group 1 had a higher DED prevalence than group 2. The OSDI score revealed that group 1 had more mild, moderate, and severe DED than group 2 (p=0.359). Longer work duration was associated with a higher DED prevalence (p=0.179). CONCLUSIONS: Given the high prevalence of fire smoke-induced DED in FFs, preventive measures such as regular ocular exams, encouraging personal protective equipment usage, and health education programs can assist in avoiding complications and reducing the burden of ocular diseases.


Asunto(s)
Síndromes de Ojo Seco , Bomberos , Enfermedades Profesionales , Adulto , Humanos , Persona de Mediana Edad , Estudios Transversales , Síndromes de Ojo Seco/etiología , Síndromes de Ojo Seco/complicaciones , Enfermedades Profesionales/epidemiología , Enfermedades Profesionales/etiología , Lágrimas , Distribución Aleatoria
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