Congenital hydrocephalus in clinical practice: A genetic diagnostic approach

2011 ◽  
Vol 54 (6) ◽  
pp. e542-e547 ◽  
Author(s):  
J.M.A. Verhagen ◽  
C.T.R.M. Schrander-Stumpel ◽  
I.P.C. Krapels ◽  
C.E.M. de Die-Smulders ◽  
F.H.M. van Lint ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Congenital Hydrocephalus ◽  
Diagnostic Approach

scholarly journals Bio-Pathological Markers in the Diagnosis and Therapy of Cancer

Cancers ◽  
2020 ◽  
Vol 12 (11) ◽  
pp. 3113 ◽  
Author(s):  
Giuseppe Broggi ◽  
Lucia Salvatorelli
Keyword(s):  
Clinical Practice ◽  
Diagnostic Approach ◽  
Medical Sciences ◽  
Diagnosis And Therapy ◽  
Radiology And Pathology

The two medical sciences that mostly deal with the diagnostic approach to human neoplasms in clinical practice are undoubtedly radiology and pathology [...]

scholarly journals P212 Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a 10-year multi-centric experience

2019 ◽  
Vol 13 (Supplement_1) ◽  
pp. S200-S201
Author(s):  
S Lega ◽  
A Pin ◽  
S Arrigo ◽  
C Cifaldi ◽  
M Girardelli ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Clinical Practice ◽  
Bowel Disease ◽  
Diagnostic Approach ◽  
Inflammatory Bowel

Managing Pleural Disease in Acute Medicine (I): Pleural Effusion

2007 ◽  
Vol 6 (3) ◽  
pp. 114-120
Author(s):  
Nazir I. Lone ◽  
◽  
George Antunes ◽  
Keyword(s):  
Clinical Practice ◽  
Pleural Effusion ◽  
Pleural Space ◽  
Diagnostic Approach ◽  
Initial Assessment ◽  
Common Finding ◽  
Pleural Disease ◽  
Pleural Effusions ◽  
Acute Medicine ◽  
Recent Developments

A pleural effusion is the accumulation of fluid in the pleural space. It is a relatively common finding in clinical practice. The diagnostic approach to the patient presenting with a pleural effusion is aimed at defining the effusion as a transudate or an exudate. This review summarises the initial assessment and investigation of pleural effusions diagnosed during the acute medical take, and who should be referred for specialist advice. In addition, recent developments, including the measurement of NT-proBNP levels and diagnostic markers for mesothelioma, are presented.

scholarly journals Diagnostic approach to paediatric movement disorders: a clinical practice guide

2020 ◽  
Author(s):  
Rick Brandsma ◽  
Martje E Egmond ◽  
Marina A J Tijssen ◽  
H Eggink ◽  
J M Gelauff ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Movement Disorders ◽  
Diagnostic Approach ◽  
Practice Guide

Gaze-Evoked Nystagmus

2019 ◽  
pp. 141-144
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Practice ◽  
Clinical Features ◽  
Management Strategies ◽  
Diagnostic Approach ◽  
End Point ◽  
Common Causes ◽  
The One

Gaze-evoked nystagmus is the one of the most common types of nystagmus encountered in clinical practice, but it is poorly localizing. It is often confused with physiologic “end-point” nystagmus. In this chapter, we begin by discussing the pathogenesis of gaze-evoked nystagmus. We next describe its clinical features as well as features that help distinguish it from “end-point” nystagmus, which is physiologic and of no concern. We then review common causes of gaze-evoked nystagmus, which include drugs (especially anticonvulsants), cerebellar degenerations, multiple sclerosis, and episodic ataxias. Lastly, we discuss the diagnostic approach to the patient with gaze-evoked nystagmus and basic management strategies.

scholarly journals Ependymal ciliary motion and their role in congenital hydrocephalus

2021 ◽  
Author(s):  
Koichiro Sakamoto ◽  
Madoka Nakajima ◽  
Kaito Kawamura ◽  
Eri Nakamura ◽  
Norihiro Tada ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Animal Models ◽  
Knockout Mice ◽  
Primary Ciliary Dyskinesia ◽  
Congenital Hydrocephalus ◽  
Genetic Mutations ◽  
Ciliary Function ◽  
Ciliary Motion ◽  
Ciliary Dyskinesia

Abstract Purpose Since a case of hydrocephalus in humans considered to be caused by ciliary dysfunction was first reported by Greenstone et al. in 1984, numerous papers on the correlation between ciliary function and hydrocephalus have been published. Methods We reviewed the published literature on primary ciliary dyskinesia in humans causing hydrocephalus, focusing on articles specifically examining the relation between ciliary function and hydrocephalus and its treatment. In addition, the authors’ experience is briefly discussed. Results Full texts of 16 articles reporting cases of human hydrocephalus (including ventriculomegaly) due to defects in ependymal ciliary function or primary ciliary dyskinesia observed in clinical practice were extracted. In recent years, studies on animal models, especially employing knockout mice, have revealed genetic mutations that cause hydrocephalus via ciliary dysfunction. However, a few reports on the onset of hydrocephalus in human patients with primary ciliary dyskinesia have confirmed that the incidence of this condition was extremely low compared to that in animal models. Conclusion In humans, it is rare for hydrocephalus to develop solely because of abnormalities in the cilia, and it is highly likely that other factors are also involved along with ciliary dysfunction.

The miR-21 potential of serving as a biomarker for liver diseases in clinical practice

2020 ◽  
Vol 48 (5) ◽  
pp. 2295-2305
Author(s):  
Jiawei Zhang ◽  
Dandan Li ◽  
Rui Zhang ◽  
Peng Gao ◽  
Rongxue Peng ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Liver Diseases ◽  
Hepatic Disease ◽  
Noninvasive Detection ◽  
Diagnosis And Prognosis ◽  
Expected Performance ◽  
Potential Biomarker ◽  
Disease Condition ◽  
Complex Regulatory Network

The role of miR-21 in the pathogenesis of various liver diseases, together with the possibility of detecting microRNA in the circulation, makes miR-21 a potential biomarker for noninvasive detection. In this review, we summarize the potential utility of extracellular miR-21 in the clinical management of hepatic disease patients and compared it with the current clinical practice. MiR-21 shows screening and prognostic value for liver cancer. In liver cirrhosis, miR-21 may serve as a biomarker for the differentiating diagnosis and prognosis. MiR-21 is also a potential biomarker for the severity of hepatitis. We elucidate the disease condition under which miR-21 testing can reach the expected performance. Though miR-21 is a key regulator of liver diseases, microRNAs coordinate with each other in the complex regulatory network. As a result, the performance of miR-21 is better when combined with other microRNAs or classical biomarkers under certain clinical circumstances.

Meeting the Best Practice for Hearing Aid Verification in Children: Challenges and Future Directions

2019 ◽  
Vol 28 (4) ◽  
pp. 877-894
Author(s):  
Nur Azyani Amri ◽  
Tian Kar Quar ◽  
Foong Yen Chong
Keyword(s):  
Clinical Practice ◽  
Hearing Aids ◽  
Best Practice ◽  
Hearing Aid ◽  
Evidence Based ◽  
Future Directions ◽  
Major Barrier ◽  
Klang Valley ◽  
Age Range ◽  
Fitting Hearing Aids

Purpose This study examined the current pediatric amplification practice with an emphasis on hearing aid verification using probe microphone measurement (PMM), among audiologists in Klang Valley, Malaysia. Frequency of practice, access to PMM system, practiced protocols, barriers, and perception toward the benefits of PMM were identified through a survey. Method A questionnaire was distributed to and filled in by the audiologists who provided pediatric amplification service in Klang Valley, Malaysia. One hundred eight ( N = 108) audiologists, composed of 90.3% women and 9.7% men (age range: 23–48 years), participated in the survey. Results PMM was not a clinical routine practiced by a majority of the audiologists, despite its recognition as the best clinical practice that should be incorporated into protocols for fitting hearing aids in children. Variations in practice existed warranting further steps to improve the current practice for children with hearing impairment. The lack of access to PMM equipment was 1 major barrier for the audiologists to practice real-ear verification. Practitioners' characteristics such as time constraints, low confidence, and knowledge levels were also identified as barriers that impede the uptake of the evidence-based practice. Conclusions The implementation of PMM in clinical practice remains a challenge to the audiology profession. A knowledge-transfer approach that takes into consideration the barriers and involves effective collaboration or engagement between the knowledge providers and potential stakeholders is required to promote the clinical application of evidence-based best practice.

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