scholarly journals Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

2021 ◽  
Vol 9 ◽  
Author(s):  
Mercedes Serrano

Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark. However, other acute neurological phenomena such as stroke-like episodes (SLE), epilepsy, migraine, and cerebrovascular events, may also occur, and they are frequently the cause of disability and impaired quality of life. Among these, SLE are among the most stressful situations for families and doctors, as their risk factors are not known, their underlying pathomechanisms remain undiscovered, and clinical guidelines for diagnosis, prevention, and treatment are lacking. In this paper, the recent SLE experiences of two PMM2-CDG patients are examined to provide clinical clues to help improve diagnosis through a clinical constellation of symptoms and a clinical definition, but also to support a neuroelectrical hypothesis as an underlying mechanism. An up-to-date literature review will help to identify evidence-based and non-evidence-based management recommendations. Presently neuropediatricians and neurologists are not capable of diagnosing stroke-like episodes in an unequivocal way, so there is still a need to perform invasive studies (to rule out other acute diseases) that may, in the end, prove unnecessary or even harmful. However, reaching a correct and early diagnosis would lead not only to avoidance of invasive tests but also to better recognition, management, and understanding of the disease itself. There is a great need for understanding of SLE that may ultimately be very informative for the detection of patients at risk, and the future development of preventive and management measures.

Author(s):  
Hawa Juma El-Shareif

Obesity is associated with increased morbidity and mortality and impaired quality of life. Weight losse is associated with improvement or even cure of cardiovascular risk factors with cardiometabolic benefit. nonsurgical measures for weight loss is rarely successful in the long term. Bariatric surgery has achieved clear success in reversing the abnormal metabolic profile associated with obesity. Pre surgical evaluation is important to rule out any medical or psychological problems that increased the surgical mortality or adversely affect the outcome.


2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.


2006 ◽  
Vol 175 (4S) ◽  
pp. 410-411
Author(s):  
Germar M. Pinggera ◽  
Michael Mitterberger ◽  
Leo Pallwein ◽  
Peter Rehder ◽  
Ferdinand Frauscher ◽  
...  

2013 ◽  
Author(s):  
Kimberly D. Becker ◽  
Dana Darney ◽  
Celene Domitrovich ◽  
Catherine Bradshaw ◽  
Nicholas S. Ialongo

Author(s):  
A. Babirad

Cerebrovascular diseases are a problem of the world today, and according to the forecast, the problem of the near future arises. The main risk factors for the development of ischemic disorders of the cerebral circulation include oblique and aging, arterial hypertension, smoking, diabetes mellitus and heart disease. An effective strategy for the prevention of cerebrovascular events is based on the implementation of large-scale risk control measures, including the use of antiagregant and anticoagulant therapy, invasive interventions such as atheromectomy, angioplasty and stenting. In this connection, the efforts of neurologists, cardiologists, angiosurgery, endocrinologists and other specialists are the basis for achieving an acceptable clinical outcome. A review of the SF-36 method for assessing the quality of life in patients with the effects of transient ischemic stroke is presented. The assessment of quality of life is recognized in world medical practice and research, an indicator that is also used to assess the quality of the health system and in general sociological research.


2019 ◽  
Vol 09 (03) ◽  
Author(s):  
Ben Hadj Ali Emna ◽  
Bouker Ahmed ◽  
Guiga Ahmed ◽  
Ben Yahia Wissal ◽  
Atig Amira ◽  
...  

Author(s):  
Shalini S ◽  
Ravichandran V ◽  
Saraswathi R ◽  
BK Mohanty ◽  
Dhanaraj S K

 Aspire of the Drug Utilization Studies (DUS) is to appraise factors related to the prescribing, dispensing, administering and taking of medication, and it’s associated. Since the middle of twentieth century, interest in DUS has been escalating, first for market-only purposes, then for appraising the quality of medical prescription and comparing patterns of use of specific drugs. The scope of DUS is to evaluate the current state and future trends of drug usage, to estimate roughly disease pervasiveness, drug expenditures, aptness of prescriptions and adherence to evidence-based recommendations. The increasing magnitude of DUS as a valuable investigation resource in pharmacoepidemiology has been bridging it with other health allied areas, such as public health, rational use of drug, evidence based drug use, pharmacovigilance, pharmacoeconomics, eco-pharmacovigilance and pharmacogenetics.


2020 ◽  
Author(s):  
Fazwa M. Fadzilah ◽  
Noreen Izza Arshad ◽  
Izuddin Zainal-Abidin ◽  
Hui Min Low ◽  
Ahmad Kamil Mahmood ◽  
...  

BACKGROUND Mobile applications (apps) that offer a variety of techniques to improve stuttering have been flourishing in the digital marketplace. In evidence-based clinical practice, speech therapists will recommend audio-enriched mobile apps to individuals with stuttering problems based on empirical research evidence. Unfortunately, many stuttering mobile apps available in the market are developed without a substantial research base. Hence, speech therapists necessitate a guideline which they could use to assess the quality of a stuttering mobile app before recommending the app to stutterers. OBJECTIVE The objective of this study is to develop a rubric for assessing the quality of the stuttering mobile app in assisting speech therapists to make informed recommendations METHODS The rubric was initially developed based on a set of criteria reviewed from the literature. Online surveys and focused group discussion were then conducted for results verification. RESULTS The outcome of this study is a rubric designed with four categories and 18-evaluative dimensions tailored to analyze the quality of stuttering mobile apps. The stuttering mobile app assessment rubric presented in the serve multiple purposes, including an evaluation instrument, providing guidelines for developing stuttering mobile apps and for creating a standard form that can be shared with professionals to facilitate a collective effort. CONCLUSIONS This rubric also offers a guidance to steer drive the future development of stuttering mobile apps that are evidence-based, and theoretically grounded


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