相关实验视频
Updated: Jan 16, 2026

05:34
5/6 Nephrectomy Using Sharp Bipolectomy Via Midline Laparotomy in Rats
Published on: April 4, 2025
1.5K
全国对基因测试意识,可用性和利用的洞察力 患有慢性脏疾病的儿童的使用挑战
Ibrahim Sandokji1, Mohammad Shalaby2, Hasan Aljefri2
1Pediatric Department, College of Medicine, Taibah University, Madinah, Saudi Arabia.
Clinical pediatrics
|October 5, 2025
概括
儿科病学家发现基因检测可用,但面临的挑战是解释和成本. 需要提高意识和财政支持,以便在诊断儿科脏疾病方面得到更广泛的使用.
科学领域:
- 儿科脏病学 儿科脏病学
- 临床遗传学 临床遗传学
- 基因组医学是基因组医学.
背景情况:
- 基因检测对于通过识别致病突变来诊断儿科病至关重要.
- 基因检测的广泛临床实施面临着几个障碍.
- 了解儿科病学家对遗传检测的看法是必不可少的.
研究的目的:
- 评估目前在儿科脏病学中对遗传测试的使用情况.
- 评估儿童脏病学家对遗传检测的看法,并确定儿童脏病学家对遗传检测的障碍.
主要方法:
- 在儿科科医生中进行了一项全国性的调查.
- 该调查涵盖了基因测试的可用性,感知,模式,指示和障碍.
- 分析了40项已完成调查的数据.
主要成果:
- 超过60%的机构提供基因测试,其中全外基因组测序是最常见的模式.
- 财务限制和提供者意识被确定为主要障碍.
- 淋巴细胞病变,管状病变和状病变是基因检测中最常见的征兆.
结论:
- 基因检测可在大多数儿科脏病中心进行.
- 儿科病学家在解释遗传检测结果时遇到困难.
- 解决财务障碍和增强提供者知识是改善基因测试采用的关键.
相关概念视频
Chronic Kidney Disease III: Interprofessional Care
339
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
339
Chronic Kidney Disease I: Introduction
560
Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
560
Chronic Kidney Disease II: Clinical Manifestations
552
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
552
Kidney Transplant I: Introduction
340
A kidney transplant is a surgical approach that involves replacing a non-functioning kidney with a healthy one from a donor. This procedure is often a treatment option for end-stage renal disease (ESRD) patients. The method requires careful recipient selection, including evaluating various medical and psychosocial factors. These criteria vary between transplant centers but generally include assessments of the patient's overall health, adherence to medical recommendations, and lifestyle...
340
Acute Kidney Injury IV: Diagnostic Studies and Prevention
260
Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
260
Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration
189
Glomerular filtration rate (GFR) can be estimated from serum creatinine using the modification of diet in renal disease (MDRD) formula or the chronic kidney disease–epidemiology collaboration (CKD–EPI) equation. Both methods are widely used in clinical practice to assess kidney function and guide treatment decisions.The MDRD equation does not require weight or height measurements and is normalized to the body surface area of 1.73 m², considered the average adult surface area.
189

