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1.
F1000Res ; 13: 274, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38725640

RESUMEN

Background: The most recent advances in Computed Tomography (CT) image reconstruction technology are Deep learning image reconstruction (DLIR) algorithms. Due to drawbacks in Iterative reconstruction (IR) techniques such as negative image texture and nonlinear spatial resolutions, DLIRs are gradually replacing them. However, the potential use of DLIR in Head and Chest CT has to be examined further. Hence, the purpose of the study is to review the influence of DLIR on Radiation dose (RD), Image noise (IN), and outcomes of the studies compared with IR and FBP in Head and Chest CT examinations. Methods: We performed a detailed search in PubMed, Scopus, Web of Science, Cochrane Library, and Embase to find the articles reported using DLIR for Head and Chest CT examinations between 2017 to 2023. Data were retrieved from the short-listed studies using Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines. Results: Out of 196 articles searched, 15 articles were included. A total of 1292 sample size was included. 14 articles were rated as high and 1 article as moderate quality. All studies compared DLIR to IR techniques. 5 studies compared DLIR with IR and FBP. The review showed that DLIR improved IQ, and reduced RD and IN for CT Head and Chest examinations. Conclusions: DLIR algorithm have demonstrated a noted enhancement in IQ with reduced IN for CT Head and Chest examinations at lower dose compared with IR and FBP. DLIR showed potential for enhancing patient care by reducing radiation risks and increasing diagnostic accuracy.


Asunto(s)
Algoritmos , Aprendizaje Profundo , Cabeza , Dosis de Radiación , Tomografía Computarizada por Rayos X , Humanos , Tomografía Computarizada por Rayos X/métodos , Cabeza/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador/métodos , Tórax/diagnóstico por imagen , Radiografía Torácica/métodos , Relación Señal-Ruido
2.
Diagnostics (Basel) ; 14(9)2024 Apr 29.
Artículo en Inglés | MEDLINE | ID: mdl-38732335

RESUMEN

BACKGROUND: In planning radiotherapy treatments, computed tomography (CT) has become a crucial tool. CT scans involve exposure to ionizing radiation, which can increase the risk of cancer and other adverse health effects in patients. Ionizing radiation doses for medical exposure must be kept "As Low As Reasonably Achievable". Very few articles on guidelines for radiotherapy-computed tomography scans are available. This paper reviews the current literature on radiation dose optimization based on the effective dose and diagnostic reference level (DRL) for head, neck, and pelvic CT procedures used in radiation therapy planning. This paper explores the strategies used to optimize radiation doses, and high-quality images for diagnosis and treatment planning. METHODS: A cross-sectional study was conducted on 300 patients with head, neck, and pelvic region cancer in our institution. The DRL, effective dose, volumetric CT dose index (CTDIvol), and dose-length product (DLP) for the present and optimized protocol were calculated. DRLs were proposed for the DLP using the 75th percentile of the distribution. The DLP is a measure of the radiation dose received by a patient during a CT scan and is calculated by multiplying the CT dose index (CTDI) by the scan length. To calculate a DRL from a DLP, a large dataset of DLP values obtained from a specific imaging procedure must be collected and can be used to determine the median or 75th-percentile DLP value for each imaging procedure. RESULTS: Significant variations were found in the DLP, CTDIvol, and effective dose when we compared both the standard protocol and the optimized protocol. Also, the optimized protocol was compared with other diagnostic and radiotherapy CT scan studies conducted by other centers. As a result, we found that our institution's DRL was significantly low. The optimized dose protocol showed a reduction in the CTDIvol (70% and 63%), DLP (60% and 61%), and effective dose (67% and 62%) for both head, neck, and pelvic scans. CONCLUSIONS: Optimized protocol DRLs were proposed for comparison purposes.

4.
Clin Neuroradiol ; 34(1): 229-239, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38015280

RESUMEN

PURPOSE: Pediatric computed tomography (CT) head examination has also increased in recent years with the advancement in CT technology; however, children exposed to radiation at the youngest age are more vulnerable to the risks of radiation. The aim of the study is to evaluate radiation dose and image quality of low dose pediatric CT head protocol compared to standard dose pediatric CT head protocol. METHODS: This was a prospective study. Group 1 included 73 patients aged < 1 year and 70 patients in the 1-5 years age group and had undergone CT head examination using the standard dose protocol. Group 2 included 31 patients aged < 1 year and 40 patients in the 1-5 years age group and had undergone CT head examination using the low dose protocol. The radiation dose was measured and image quality was assessed quantitatively and qualitatively. RESULTS: There was a significant difference in radiation dose between the standard and low dose protocols (p > 0.05) with lower radiation dose for low dose group. The qualitative analysis did not show a significant difference between the standard and low dose protocols. The gray-white matter differentiation (GWMD), attenuation, contrast to noise ratio (CNR) and figure of merit (FOM) were higher in the low dose protocol compared to the standard dose with a significant difference (p > 0.05). CONCLUSION: The study concludes that a low dose protocol at 80 kV tube voltage/150 mAs tube current exposure time product/iterative reconstruction-iDose4 (level 3) for < 1 year age group and 100 kV/200m As/iDose4 (level 3) for 1-5 years age group provides ultra-low effective dose with diagnostically acceptable image quality for pediatric CT head examination compared with standard dose protocol.


Asunto(s)
Interpretación de Imagen Radiográfica Asistida por Computador , Tomografía Computarizada por Rayos X , Humanos , Niño , Lactante , Preescolar , Estudios Prospectivos , Dosis de Radiación , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Tomografía Computarizada por Rayos X/métodos , Sustancia Gris , Algoritmos , Medios de Contraste
5.
Ethiop J Health Sci ; 33(3): 547-554, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37576174

RESUMEN

Background: Globally prostate cancer is one of the most prevalent cancer among men and a leading cause of morbidity and mortality, especially in a developing country, which is mainly due to lack of knowledge and awareness regarding the screening of prostate cancer. The main objective of this review and meta-analysis is to evaluate the knowledge, awareness and practice of adult men about prostate cancer. Method: An extensive literature search was performed on studies published between January 2000 to 2021. The systematic review initially yielded 137 studies, out of which 7 studies were covered on this meta-evaluation. Result: We noted that the pooled estimate of knowledge and awareness were respectively 65% [CI: 29%, 100%], and 74% [CI: 66%, 82%] about prostate cancer. However, there were limited practices noted in screening of prostate cancer. Conclusion: In order to increase the awareness and screening practice rate for prostate cancer, an improved health education is highly recommended.


Asunto(s)
Detección Precoz del Cáncer , Neoplasias de la Próstata , Masculino , Adulto , Humanos , Neoplasias de la Próstata/diagnóstico , Conocimientos, Actitudes y Práctica en Salud , Educación en Salud
6.
J Taibah Univ Med Sci ; 18(5): 1065-1075, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36994221

RESUMEN

Objectives: High sedentary behaviour is associated with adverse effects on central vascular function and cognitive function. Although interventions to mitigate the adverse effects of workplace sitting are intriguing, evidence of the efficacy of such interventions remains lacking. This randomised cross-over trial was aimed at exploring the effectiveness of prolonged sitting, with or without physical activity breaks, on central, peripheral vascular and cognitive function in adults. Methods: Twenty one healthy adults completed 4 h of simulated work conditions in three experimental visits: (1) uninterrupted sitting (SIT); (2) sitting interrupted by 3 min of walking every hour (LIT); and (3) sitting interrupted by 3 min of stair climbing every hour (MIT). Carotid (CA) and superficial femoral artery (SFA) diameter, velocity, shear rate and blood flow were measured with Duplex ultrasound at 50 MHz at three time points (hours 0, 2 and 4), and executive function was assessed with the computer based Eriksen Flanker task every hour. Results: The decreases in reaction time (-30.59%) and accuracy (-10.56%) during SIT conditions were statistically significant, and less of a decrease was observed under LIT and MIT conditions. No significant differences in CA and SFA function were observed with LIT and MIT interventions. Conclusion: Physical activity breaks of varying intensity during prolonged sitting improve reaction time. However, the vascular benefits of physical activity breaks should be confirmed in the future through long term studies in natural environment.

7.
Artículo en Inglés | MEDLINE | ID: mdl-36901340

RESUMEN

Healthcare-associated infections (HCAIs) are a significant concern for both healthcare professionals and patients. With recent advances in imaging modalities, there is an increase in patients visiting the radiology department for diagnosis and therapeutic examination. The equipment used for the investigator is contaminated, which may result in HCAIs to the patients and healthcare professionals. Medical imaging professionals (MIPs) should have adequate knowledge to overcome the spread of infection in the radiology department. This systematic review aimed to examine the literature on the knowledge and precaution standard of MIPs on HCIAs. This study was performed with a relative keyword using PRISMA guidelines. The articles were retrieved from 2000 to 2022 using Scopus, PubMed, and ProQuest databases. The NICE public health guidance manual was used to assess the quality of the full-length article. The search yielded 262 articles, of which Scopus published 13 articles, PubMed published 179 articles, and ProQuest published 55 articles. In the present review, out of 262 articles, only 5 fulfilled the criteria that reported MIPs' knowledge of Jordan, Egypt, Sri Lanka, France, and Malawi populations. The present review reported that MIPs have moderate knowledge and precautionary standards regarding HCIAs in the radiology department. However, due to the limited studies published in the literature, the current review limits the application of the outcome in the vast MIPs population. This review recommended further studies to be conducted among the MIPs worldwide to know the actual knowledge and precaution standards regarding HCIAs.


Asunto(s)
Infección Hospitalaria , Humanos , Personal de Salud , Diagnóstico por Imagen , Radiografía , Atención a la Salud
8.
Diagnostics (Basel) ; 13(6)2023 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-36980380

RESUMEN

Background: In August 2017, the European Commission awarded the "European Study on Clinical Diagnostic Reference Levels (DRL) for X-ray Medical Imaging" project to the European Society of Radiology to provide up-to-date Diagnostic Reference Levels based on clinical indications. This work aimed to conduct an extensive literature review by analyzing the most recent studies published and the data provided by the National Competent Authorities to understand the current situation regarding Diagnostic Reference Levels based on clinical indications for Radiation Therapy Computed Tomography. Objective: To review the literature on established DRLs and methodologies for establishing Diagnostic reference levels in radiation therapy planning computed tomography (RTCT). Methods: Eligibility criteria: A cohort study (observational design) reporting DRLs in adult patients undergoing computed tomography (CT) for radiation therapy for the region head and neck or pelvis were included. The comprehensive literature searches for the relevant studies published between 2000 and 2021 were performed using PubMed, Scopus, CINHAL, Web of Science, and ProQuest. Results: Three hundred fifty-six articles were identified through an extensive literature search. Sixty-eight duplicate reports were removed. The title and abstract of 288 studies were assessed and excluded if they did not meet the inclusion criteria. Sixteen of 288 articles were selected for full-text screening (studies conducted between 2000 and 2021). Five articles were included in the review after the full-text screening. Conclusions: A globally approved standard protocol that includes scanning techniques, dose measurement method, and DRL percentile needs to be established to make a valuable and accurate comparison with international DRLs.

10.
PLoS One ; 17(12): e0277168, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36520945

RESUMEN

BACKGROUND: Radiomics involves the extraction of quantitative information from annotated Computed-Tomography (CT) images, and has been used to predict outcomes in Head and Neck Squamous Cell Carcinoma (HNSCC). Subjecting combined Radiomics and Clinical features to Machine Learning (ML) could offer better predictions of clinical outcomes. This study is a comparative performance analysis of ML models with Clinical, Radiomics, and Clinico-Radiomic datasets for predicting four outcomes of HNSCC treated with Curative Radiation Therapy (RT): Distant Metastases, Locoregional Recurrence, New Primary, and Residual Disease. METHODOLOGY: The study used retrospective data of 311 HNSCC patients treated with radiotherapy between 2013-2018 at our centre. Binary prediction models were developed for the four outcomes with Clinical-only, Clinico-Radiomic, and Radiomics-only datasets, using three different ML classification algorithms namely, Random Forest (RF), Kernel Support Vector Machine (KSVM), and XGBoost. The best-performing ML algorithms of the three dataset groups was then compared. RESULTS: The Clinico-Radiomic dataset using KSVM classifier provided the best prediction. Predicted mean testing accuracy for Distant Metastases, Locoregional Recurrence, New Primary, and Residual Disease was 97%, 72%, 99%, and 96%, respectively. The mean area under the receiver operating curve (AUC) was calculated and displayed for all the models using three dataset groups. CONCLUSION: Clinico-Radiomic dataset improved the predictive ability of ML models over clinical features alone, while models built using Radiomics performed poorly. Radiomics data could therefore effectively supplement clinical data in predicting outcomes.


Asunto(s)
Neoplasias de Cabeza y Cuello , Recurrencia Local de Neoplasia , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello/diagnóstico por imagen , Carcinoma de Células Escamosas de Cabeza y Cuello/radioterapia , Estudios Retrospectivos , Recurrencia Local de Neoplasia/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/radioterapia , Aprendizaje Automático
11.
Artículo en Inglés | MEDLINE | ID: mdl-36554962

RESUMEN

BACKGROUND AND AIM: There is evidence to support the favorable impact of physical activity (PA) on brain volume. However, the empirical evidence exploring the relationship between physical and sedentary behavior remains mixed. We aimed to explore the relationship between PA and sedentary behavior and brain volume. METHODS: The study sample (n = 150, mean age = 39.7 years) included patients interviewed with the International Physical Activity Questionnaire (IPAQ) who underwent an MRI brain scan. From the images obtained, we measured total intracranial, gray matter, and white matter volume along with the hippocampus, amygdala, parahippocampal gyrus, and posterior cingulate cortex (PCC). Multivariable linear regression analysis was done. RESULTS AND DISCUSSION: Left hippocampus and overall PA were positively and significantly associated (ß = 0.71, p = 0.021) whereas time spent on vigorous physical activity showed a negative association (ß = -0.328, p = 0.049) with left hippocampal volume. CONCLUSION: We found a positive association between total PA and the left hippocampus, whereas vigorous PA showed a negative association with the left hippocampus.


Asunto(s)
Ejercicio Físico , Sustancia Gris , Humanos , Adulto , Centros de Atención Terciaria , Sustancia Gris/diagnóstico por imagen , Hipocampo/diagnóstico por imagen , Corteza Cerebral , Imagen por Resonancia Magnética
12.
Artículo en Inglés | MEDLINE | ID: mdl-36429835

RESUMEN

Since the workplace has become desk-based and leisure time has become dominated by digital relaxation modes, the world is moving at a pace where physical activity has become a time-bound routine. The negative effects of extended sitting are a global concern since the workforce is becoming more desk based. There is a dearth of reviews that may link the knowledge on the effects of sedentary behaviour on hypertension and its accompanying damage to the brain and blood vessels and provide a future scope for the investigations connected to the relationship between sedentary behaviour and hypertension. Methods: Based on the database search and extensive research we did, we found studies that concentrated on the adverse effects of sedentary behaviour in association with blood pressure, cognitive decline and brain damage on adults. Results: We extracted 12 articles out of 20,625. We identified the potential adverse effects of sedentary behaviour, methods to reduce sedentary behaviour and the positive changes on health due to the interventions introduced. Sedentary lifestyle has shown a decline in human health. However, the visible symptoms presented later in life makes it very important to know the areas of decline and look for ways to curb the decline or procrastinate it.


Asunto(s)
Hipertensión , Conducta Sedentaria , Adulto , Humanos , Cognición , Ejercicio Físico , Actividades Recreativas , Hipertensión/epidemiología
13.
J Xray Sci Technol ; 30(5): 983-991, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35786667

RESUMEN

BACKGROUND: Pediatric population is more sensitive to the effects of radiation than adults. Establishing diagnostic reference level (DRL) is an efficient dose optimization technique implemented by many countries for reducing radiation dose during Computed Tomography (CT) examinations. OBJECTIVES: To estimate radiation dose and establish a new local diagnostic reference level for CT head examination in the pediatric population. MATERIALS AND METHODS: We prospectively recruited 143 pediatric patients referred for CT head examination with age ranging from 0-5 years old. All patients had undergone CT head examination using the standard pediatric head protocol. Volumetric CT dose index (CTDIvol) and dose length product (DLP) were recorded. The effective dose was first calculated. Then, 75th percentile of dose indices was calculated to establish DRLs. RESULTS: DRLs in terms of CTDIvol and DLP are 23.84 mGy, 555.99 mGy.cm for patients <1 years old and 28.65 mGy, 794.99 mGy.cm for patients from 1-5 years old, respectively. Mean effective doses for <1 years old patients and 1-5 years old patients are 2.91 mSv and 2.78 mSv respectively. CONCLUSION: The study concludes that DRL in terms of CTDIvol is lower but DRL in terms of DLP and the effective dose is higher compared to a few other studies which necessitate the need for dose optimization.


Asunto(s)
Niveles de Referencia para Diagnóstico , Tomografía Computarizada por Rayos X , Adulto , Niño , Preescolar , Cabeza/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Dosis de Radiación , Tomografía Computarizada por Rayos X/métodos
14.
Trans R Soc Trop Med Hyg ; 116(10): 944-948, 2022 10 02.
Artículo en Inglés | MEDLINE | ID: mdl-35355076

RESUMEN

BACKGROUND: Kyasanur Forest disease (KFD) is a viral zoonotic disease where patients present with febrile illness and haemorrhagic manifestations in the first phase. In a small fraction of patients, the fever may be biphasic. This study aimed to describe the neurological manifestations of patients with KFD in the first and second phases of the illness. METHODS: This is a retrospective cohort study of 297 patients admitted with a molecular diagnosis of KFD from December 2018 to December 2020. The case records of these patients were reviewed for evidence of neurological involvement. RESULTS: A total of 34 (11.5%) patients in the first phase and 16 (36.4%) patients in the second phase had neurological involvement. Altered sensorium, seizures and focal infarcts were common in the first phase, while cerebellar signs and leptomeningeal enhancement were common in the second phase. CONCLUSIONS: Neurological involvement is seen in both phases of KFD. While in the first phase it is a result of possible encephalitis/encephalopathy, the second phase involvement is possibly due to postinfectious cerebellitis or meningitis.


Asunto(s)
Enfermedad del Bosque de Kyasanur , Humanos , India/epidemiología , Enfermedad del Bosque de Kyasanur/complicaciones , Enfermedad del Bosque de Kyasanur/epidemiología , Estudios Retrospectivos
15.
Infez Med ; 31(1): 62-69, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36908382

RESUMEN

Introduction: Based on clinical parameters alone, it is difficult to differentiate between tubercular (TB) and pyogenic spondylodiscitis. Therefore, this study aimed to identify imaging features that can help to differentiate these two entities. Methodology: This retrospective observational study included microbiologically confirmed cases of TB and pyogenic spondylitis over three years. Magnetic resonance imaging of included cases was reviewed for a predefined set of imaging findings. A multivariable logistic regression analysis was done to compare the radiological features of both groups. A scoring system was created using the features that were significant in univariate and multivariable analysis. Results: Of the 90 included cases, 44 were TB and 46 were pyogenic. Involvement of the thoracic vertebra, paravertebral abscess, epidural abscess, posterior element involvement, loss of height, spine deformity, nerve compression, destruction of the disc and larger abscess size were more common in patients with TB. Involvement of the thoracic spine, posterior element involvement and spine deformity were independent predictors of diagnosing TB spine. At a score of 7 (out of 11) or above, the scoring system had a sensitivity and specificity of 86% and 94%, respectively, in diagnosing the TB spine. Conclusion: In the presence of relevant clinical findings, specific MRI findings can help to differentiate TB from pyogenic spondylitis.

16.
J Med Phys ; 46(3): 140-147, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34703097

RESUMEN

BACKGROUND AND PURPOSE: This work aims at optimizing and studying the feasibility of imaging the brachial plexus at 1.5T using 3D nerve-SHeath signal increased with INKed rest-tissue RARE imaging (3D SHINKEI) neurography sequence by comparing with routine sequences. MATERIALS AND METHODS: The study was performed on a 1.5T Achieva scanner. It was designed in two parts: (a) Optimization of SHINKEI sequence at 1.5T; and (b) Feasibility study of the optimized SHINKEI sequence for generating clinical quality magnetic resonance neurography images at 1.5T. Simulations and volunteer experiments were conducted to optimize the T2 preparation duration for optimum nerve-muscle contrast at 1.5T. Images from the sequence under study and other routine sequences from 24 patients clinically referred for brachial plexus imaging were scored by a panel of radiologists for diagnostic quality. Injury detection efficacy of these sequences were evaluated against the surgical information available from seven patients. RESULTS: T2 preparation duration of 50 ms gives the best contrast to noise between nerve and muscle. The images of 3D SHINKEI and short-term inversion recovery turbo spin-echo sequences are of similar diagnostic quality but significantly better than diffusion weighted imaging with background signal suppression. In comparison with the surgical findings, 3D SHINKEI has the lowest specificity; however, it had the highest sensitivity and predictive efficacy compared to other routine sequences. CONCLUSION: 3D SHINKEI sequence provides a good nerve-muscle contrast and has high predictive efficacy of nerve injury, indicating that it is a potential screening sequence candidate for brachial plexus scans at 1.5T also.

17.
J Cancer Res Ther ; 17(4): 845-852, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34528530

RESUMEN

Computed tomography (CT) has vital role in diagnosis of various pathologies using cross sectional images. Besides the advantages of CT in pediatric radiology, radiation dose has a significant adverse effect as children are more vulnerable than adults. Establishing Diagnostic Reference levels (DRLs) will determine unusual increase in radiation doses and therefore helps in optimizing the radiation dose by maintaining optimum diagnostic image quality. The objective of the review is to explore the literature on DRLs in pediatric CT examinations and techniques that have been used to establish them. Detailed search was done in PubMed-Medline, Scopus CINAHL, Web of Science, and the Cochrane Library databases to find studies that have established DRLs for pediatric CT examinations. The Preferred Reporting Items for Systematic Review and Meta-Analyses methodology was used to assess the relevant articles. The articles which assessed DRLs in pediatric CT examinations were included. A total of 501 articles were identified, of which 21 articles were included after a detailed screening process. Our review showed increased in pediatric patient dose surveys across the world and also increased in awareness for establishing DRLS among pediatric CT examinations. The review also demonstrated wide variation in DRLs and also deviation in the scanning techniques, protocols used and categorization methods used for establishing DRLs. As the pediatric population is more sensitive to radiation, the current review emphasizes the need for optimization of protocols and international standardization for establishing DRLs to facilitate a more feasible way of comparison of dose globally across CT sites.


Asunto(s)
Niveles de Referencia para Diagnóstico , Neoplasias/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Niño , Humanos , Neoplasias/diagnóstico por imagen
18.
Clin Genet ; 100(5): 542-550, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34302356

RESUMEN

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA) was performed for three families and one received a diagnosis. Mendeliome sequencing was used for testing 11 families and all received a diagnosis. Whole exome sequencing (WES) was performed in 80 families and was diagnostic in 52 (65%). Singleton WES was diagnostic for 50/75 (66.67%) families. Overall, genetic diagnoses were obtained in 77 families (74.03%). Twenty-two of 47 distinct disorders observed in this cohort have not been reported in Indian individuals previously. Notably, disorders of nuclear mitochondrial pathology were most frequent (9 disorders in 20 families). Thirty-seven of 75 (49.33%) disease-causing variants are novel. To sum up, the present cohort describes the phenotypic and genotypic spectrum of genetic disorders with CNS WMAs in our population. It demonstrates WES, especially singleton WES, as an efficient tool in the diagnosis of these heterogeneous entities. It also highlights possible founder events and recurrent disease-causing variants in our population and their implications on the testing strategy.


Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/genética , Sustancia Blanca/anomalías , Alelos , Aberraciones Cromosómicas , Consanguinidad , Familia , Estudios de Asociación Genética/métodos , Pruebas Genéticas , Humanos , India/epidemiología , Análisis por Micromatrices , Mutación , Malformaciones del Sistema Nervioso/epidemiología , Secuenciación del Exoma
19.
Clin Genet ; 100(2): 201-205, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33890291

RESUMEN

The glycine cleavage system H protein (GCSH) is an integral part of the glycine cleavage system with its additional involvement in the synthesis and transport of lipoic acid. We hypothesize that pathogenic variants in GCSH can cause variant nonketotic hyperglycinemia (NKH), a heterogeneous group of disorders with findings resembling a combination of severe NKH (elevated levels of glycine in plasma and CSF, progressive lethargy, seizures, severe hypotonia, no developmental progress, early death) and mitochondriopathies (lactic acidosis, leukoencephalopathy and Leigh-like lesions on MRI). We herein report three individuals from two unrelated Indian families with clinical, biochemical, and radiological findings of variant NKH, harboring a biallelic start loss variant, c.1A > G in GCSH.


Asunto(s)
Proteína H del Complejo de la Glicina Descarboxilasa/genética , Hiperglicinemia no Cetósica/genética , Preescolar , Femenino , Glicina/sangre , Glicina/líquido cefalorraquídeo , Humanos , Hiperglicinemia no Cetósica/etiología , Masculino , Mutación , Linaje
20.
Infection ; 49(6): 1337-1340, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33751448

RESUMEN

PURPOSE: Pulmonary aspergilloma affects immunocompromised patients but is also a recurrent condition in patients previously treated for pulmonary tuberculosis. METHODS AND RESULTS: We report the case of a 45-year-old patient with a history of cured pulmonary tuberculosis 15 years earlier in whom we visualized pulmonary aspergilloma by transthoracic lung sonography. Sonography of pulmonary aspergilloma demonstrated an oval cavity with hypoechoic contents and an irregular border, measuring a diameter of 4.7 cm; inside the lesion, a roundish structure with an anechoic rim was discernable. CONCLUSIONS: The sonographic findings corresponded to chest X-ray and computed tomography imaging in this patient and to previously reported sonographic characteristics of mycotic abscesses in other organs. Lung ultrasound may be a tool to identify pulmonary aspergilloma, especially as a point-of-care imaging tool and where other imaging modalities are inaccessible.


Asunto(s)
Aspergilosis Pulmonar , Tuberculosis Pulmonar , Humanos , Huésped Inmunocomprometido , Pulmón/diagnóstico por imagen , Persona de Mediana Edad , Aspergilosis Pulmonar/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Tuberculosis Pulmonar/diagnóstico por imagen
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