Comprehensive Thrombophilia Evaluation in Cerebral Venous Thrombosis: A Single Center Cross Sectional Study.

In patients with Cerebral Venous Thrombosis (CVT), inherited and acquired thrombophilic conditions have been studied either individually or as subset of a comprehensive evaluation. None of the studies have included a comprehensive evaluation of all the known associations. The associations for various conditions have been found to differ significantly between the Indian and the Western population. We defined a Comprehensive Thrombophilia panel (inherited and acquired) comprising of 13 thrombophilic conditions to include all the relevant known associations in CVT. All patients in this cross-sectional study were evaluated as per the defined protocol during the three-year study period. We evaluated 42 patients of CVT for presence of inherited and acquired thrombophilic conditions. The mean age of the study population was 38.4 yrs. An inherited or an acquired thrombophilic condition was diagnosed in 76% patients. Hyperhomocysteinemia and raised factor VIII levels were the most common conditions, seen in 38% and 35.7% patients respectively. MTHFR mutation was seen in 21% patients. Protein S deficiency was seen in 7% patients. Factor V Leiden and JAK2 positive MPN were seen in 2.3% cases. We did not detect any patients with Protein C deficiency, APLA syndrome, anti-thrombin deficiency, PG20210A mutation or PNH. PAI-1 polymorphism was not included in the protocol as its role is controversial and it has not been established in Indian studies. There is an urgent need for Comprehensive Thrombophilia testing in a larger population of CVT patients to better delineate the spectrum of associated thrombophilic conditions. Such a study is bound to impact therapy and prognosis of CVT.

Mobile application as a complementary tool for differential diagnosis in Neuro-ophthalmology: A multicenter cross-sectional study.

Purpose: Drawing differential diagnoses to a Neuro-ophthalmology clinical scenario is a difficult task for a neurology trainee. The authors conducted a study to determine if a mobile application specialized in suggesting differential diagnoses from clinical scenarios can complement clinical reasoning of a neurologist in training. Methods: A cross-sectional multicenter study was conducted to compare the accuracy of neurology residents versus a mobile medical app (Neurology Dx) in drawing a comprehensive list of differential diagnoses from Neuro-ophthalmology clinical vignettes. The differentials generated by residents and the App were compared with the Gold standard differential diagnoses adjudicated by experts. The prespecified primary outcome was the proportion of correctly identified high likely gold standard differential diagnosis by residents and App. Results: Neurology residents (n = 100) attempted 1500 Neuro-ophthalmology clinical vignettes. Frequency of correctly identified high likely differential diagnosis by residents was 19.42% versus 53.71% by the App (P < 0.0001). The first listed differential diagnosis by the residents matched with that of the first differential diagnosis adjudicated by experts (gold standard differential diagnosis) with a frequency of 26.5% versus 28.3% by the App, whereas the combined output of residents and App scored a frequency of 41.2% in identifying the first gold standard differential correctly. The residents correctly identified the first three and first five gold standard differential diagnosis with a frequency of 17.83% and 19.2%, respectively, as against 22.26% and 30.39% (P < 0.0001) by the App. Conclusion: A ruled based app in Neuro-ophthalmology has the potential to complement a neurology resident in drawing a comprehensive list of differential diagnoses.

The Neurologist and Artificial Intelligence: Titans at Crossroads.

Clinical judgment to reach final diagnosis has remained a challenge since time immemorial. The present times are witness to artificial intelligence (AI) and machine learning programs competing to outperform the seasoned physician in arriving at a differential diagnosis. We discuss here the possible roles of AI in neurology.

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature.

BACKGROUND: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM from four families in North India. METHODS AND RESULTS: Seven patients from four different families were diagnosed to have HIBM. There was no consanguinity in any of the families. While one patient had two affected siblings, another had one affected siblings and the family history was noncontributory in two patients. Two of the siblings were available for examination and confirmed clinically to be suffering from HIBM. Among the seven patients, only one was still ambulatory at the time of diagnosis. DISCUSSION: This is the first case report of occurrence of HIBM in North Indian population. Despite its unique clinical presentation, HIBM is frequently misdiagnosed resulting in unnecessary diagnostic and therapeutic interventions. A high index of suspicion of this rare myopathy along with proper clinical examination may go a long way in accurate prognostication and management of these patients.

Trends in scientific publishing: Dark clouds loom large.

The world wide web has brought about a paradigm shift in the way medical research is published and accessed. The ease with which a new journal can be started/hosted by publishing start-ups is unprecedented. The tremendous capabilities of the world wide web and the open access revolution when combined with a highly profitable business have attracted unscrupulous fraudulent operators to the publishing industry. The intent of these fraudulent publishers is solely driven by profit with utter disregard to scientific content, peer reviews and ethics. This phenomenon has been referred to as "predatory publishing". The "international" tag of such journals often betrays their true origins. The gold open access model of publishing, where the author pays the publisher, when coupled with a non-existent peer review threatens to blur the distinction between science and pseudoscience. The average researcher needs to be made more aware of this clear and present danger to the scientific community. Prevention is better than cure.

Gaze disorders: A clinical approach.

A single clear binocular vision is made possible by the nature through the oculomotor system along with inputs from the cortical areas as well their descending pathways to the brainstem. Six systems of supranuclear control mechanisms play a crucial role in this regard. These are the saccadic system, the smooth pursuit system, the vestibular system, the optokinetic system, the fixation system, and the vergence system. In gaze disorders, lesions at different levels of the brain spare some of the eye movement systems while affecting others. The resulting pattern of eye movements helps clinicians to localize lesions accurately in the central nervous system. Common lesions causing gaze palsies include cerebral infarcts, demyelinating lesions, multiple sclerosis, tumors, Wernicke's encephalopathy, metabolic disorders, and neurodegenerative disorders such as progressive supranuclear palsy. Evaluation of the different gaze disorders is a bane of most budding neurologists and neurosurgeons. However, a simple and systematic clinical approach to this problem can make their early diagnosis rather easy.