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1.
Article | IMSEAR | ID: sea-223556

ABSTRACT

Background & objectives: Vaccination and natural infection can both augment the immune responses against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but how omicron infection has affected the vaccine-induced and hybrid immunity is not well studied in Indian population. The present study was aimed to assess the durability and change in responses of humoral immunity with age, prior natural infection, vaccine type and duration with a minimum gap of six months post-two doses with either ChAdOx1 nCov-19 or BBV152 prior- and post-emergence of the omicron variant. Methods: A total of 1300 participants were included in this observational study between November 2021 and May 2022. Participants had completed at least six months after vaccination (2 doses) with either ChAdOx1 nCoV-19 or an inactivated whole virus vaccine BBV152. They were grouped according to their age (? or ?60 yr) and prior exposure of SARS-CoV-2 infection. Five hundred and sixteen of these participants were followed up after emergence of the Omicron variant. The main outcome was durability and augmentation of the humoral immune response as determined by anti-receptor-binding domain (RBD) immunoglobulin G (IgG) concentrations, anti-nucleocapsid antibodies and anti-omicron RBD antibodies. Live virus neutralization assay was conducted for neutralizing antibodies against four variants – ancestral, delta and omicron and omicron sublineage BA.5. Results: Before the omicron surge, serum anti-RBD IgG antibodies were detected in 87 per cent participants after a median gap of eight months from the second vaccine dose, with a median titre of 114 [interquartile range (IQR) 32, 302] BAU/ml. The levels increased to 594 (252, 1230) BAU/ml post- omicron surge (P<0.001) with 97 per cent participants having detectable antibodies, although only 40 had symptomatic infection during the omicron surge irrespective of vaccine type and previous history of infection. Those with prior natural infection and vaccination had higher anti-RBD IgG titre at baseline, which increased further [352 (IQR 131, 869) to 816 (IQR 383, 2001) BAU/ml] (P<0.001). The antibody levels remained elevated after a mean time gap of 10 months, although there was a decline of 41 per cent. The geometric mean titre was 452.54, 172.80, 83.1 and 76.99 against the ancestral, delta, omicron and omicron BA.5 variants in the live virus neutralization assay. Interpretation & conclusions: Anti-RBD IgG antibodies were detected in 85 per cent of participants after a median gap of eight months following the second vaccine dose. Omicron infection probably resulted in a substantial proportion of asymptomatic infection in the first four months in our study population and boosted the vaccine-induced humoral immune response, which declined but still remained durable over 10 months

2.
Indian J Ophthalmol ; 2023 Jan; 71(1): 101-108
Article | IMSEAR | ID: sea-224820

ABSTRACT

Purpose: TO report the corneal manifestations in patients with COVID?19?associated rhino?orbito?cerebral mucormycosis (ROCM). Methods: This study was a retrospective, observational, and record?based analysis of patients of ROCM with corneal involvement. Results: A total of 220 patients were diagnosed with ROCM over a period of 3 months. Thirty?two patients had developed corneal manifestations. The mean age at diagnosis was 52.84 ± 12.8 years. The associated risk factors were systemic mucormycosis, uncontrolled diabetes, recent COVID?19 infection, and injudicious use of systemic steroids. Twenty?nine patients were known diabetics, 32 had recent COVID?19 infection, and 13 gave a history of injudicious use of steroids. The right eye (RE) was affected in nine patients, the left eye (LE) in 20 patients, and both eyes in three patients. Nine patients had a round?oval corneal ulcer. One patient each had a perforated corneal ulcer with uveal prolapse, sealed perforated corneal ulcer, spontaneously healed limbal perforation, diffuse corneal haze with hyphemia, panophthalmitis, diffuse corneal stromal abscess, limbal ischemia, anterior uveitis with posterior synechiae, inferior corneal facet, and filamentary keratitis. Three patients each had a corneal melt and inferior conjunctival xerosis with chemosis. Orbital exenteration was performed in six patients. Five patients with corneal ulcers healed. Topical eye drops of amphotericin (0.5 mg/ ml) cycloplegic, antiglaucoma medications, and lubricant eye drops were started along with systemic antifungals. Conclusion: Central corneal ulcer was the most common manifestation of mucormycosis. A concentration as low as 0.5 mg/ml of amphotericin eye drops was effective in the treatment.

3.
Article | IMSEAR | ID: sea-220217

ABSTRACT

Objectives: Diabetes mellitus (DM) seems the most common predisposing factor for rhino-orbito-cerebral mucormycosis (ROCM). This study aimed to study the impact of DM on the severity of COVID-19-associated ROCM (CAM). Methods:?This was a retrospective analytical study performed over a period of 3 months to assess the impact of DM on the severity of CAM in 100 patients and association of clinical correlates of DM with severity of CAM. Statistical analysis:?The data collected using the study tools were converted into a computer-based spreadsheet and analyzed. The statistical analysis comprised a descriptive analysis that involved calculating means, standard deviations, and proportions. For calculating the significance of the difference of mean between two groups, Student's t-test was applied. In addition, chi-square test (or Fisher's t-test if applicable) was applied to study the significance of association of clinical correlates of DM with severity of CAM for categorical variables and t-test for continuous variables. Results:?The prevalence of DM was 67%. The average presenting blood sugar level was 245.9?±?99.86?mg%. Glycated hemoglobin level between 4.5 and 6.5% was observed in 57 patients and over 6.5% in 43 subjects. A high body mass index (BMI) of 25 and above was noted in 52 patients. A significantly higher level of presenting blood sugar and a longer duration of hospital stay was noted in patients having stage 3b or higher (p?<?0.05) when compared with those having stage 3a or below. No significant correlation was observed in patients in stage 3a or below and those presenting with stage 3b or higher in terms of BMI, waist to hip ratio, or total cholesterol levels. There was a strong correlation between blood sugar level at presentation, severity of DM with the severity of ROCM, and a strong inverse correlation noted between HDL level and severity of ROCM. Conclusion:?A poor metabolic control is associated with a higher risk of a severe disease with intracranial involvement.

4.
Journal of Movement Disorders ; : 42-51, 2023.
Article in English | WPRIM | ID: wpr-967587

ABSTRACT

Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.

5.
Journal of Movement Disorders ; : 248-260, 2023.
Article in English | WPRIM | ID: wpr-1001399

ABSTRACT

Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.

6.
Journal of Movement Disorders ; : 231-247, 2023.
Article in English | WPRIM | ID: wpr-1001393

ABSTRACT

Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

7.
Journal of Movement Disorders ; : 285-294, 2023.
Article in English | WPRIM | ID: wpr-1001392

ABSTRACT

Objective@#aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations. @*Methods@#aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent. @*Results@#aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes. @*Conclusion@#aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.

8.
Article | IMSEAR | ID: sea-220199

ABSTRACT

Objectives?Individuals affected with rhino-orbito-cerebral mucormycosis (ROCM) associated with coronavirus disease 2019 (COVID-19) increased enormously in northern India during the second wave of the novel coronavirus disease. This study determined the demographic and clinical profile including the risk factors in patients presenting to a tertiary care hospital in northern India. Materials and Methods?This is a descriptive study involving patients admitted with COVID-19-associated ROCM and were managed from May 2021 to 20th July 2021. Statistical Analysis?The data was analyzed using SPSS (IBM SPSS Statistics 20, SPSS Inc., Chicago, Illinois, United States) software and Microsoft Excel (Version 16.49). The chi-squared and Fisher's exact tests were used to compare various outcomes. A p-value of less than or equal to 0.05 was considered to be statistically significant. Results?One hundred and seventeen (117) patients (males: 70 [59.8%], females:47 [40.2%]) with the average age of 51.85?±?12.80 years presented with orbital involvement. Diabetes mellitus was noted in 100 (86.2%) patients. Of the available data from the records, oxygen supplementation for the management of COVID-19 was received by 37/108 (34.3%) patients for a median average duration of 11 days. Forty-eight patients of one-hundred-seventeen (60%) patients were treated with corticosteroids with a median duration of steroid administration being 10 days. The duration between onset of symptoms related to mucormycosis and diagnosis of COVID-19 was 0 to 75 days for 48 patients. Intravenous amphotericin B was administered in all cases. External sinonasal debridement was performed in 90 of 114 (78.9%) patients, retrobulbar amphotericin B injection was administered in 56 of 117 (47.9%), and orbital exenteration was performed in 17 of 117 (14.5%) of cases. Conclusion?Administration of corticosteroids and diabetes mellitus seem to be the major underlying causes for the development of COVID-19-associated ROCM. Prompt diagnosis and multidisciplinary management approach are essential for a reduction in mortality.

9.
Article | IMSEAR | ID: sea-218929

ABSTRACT

Background: Globally 憃ral cancer� is the sixth most common cause of cancer-related death. Oral cancer accounts for approximately 30-40% of all cancers in India. The present study was conducted to assess biochemical parameters in newly diagnosed oral cancer. Methods: The present study was conducted to assess biochemical parameters in newly diagnosed oral squamous cell carcinoma. The study was conducted at GSVM Medical College, Kanpur among 196 newly diagnosed patients with oral squamous cell carcinoma and 196 healthy individuals. Serum samples from the participants were collected. The data were expressed as mean盨D. Values of p<0.001 were considered significant. Results: The present study was conducted to assess biochemical parameters in newly diagnosed oral cancer. The study was conducted at GSVM Medical College, Kanpur among 196 newly diagnosed patients with oral cancer and 196 healthy individuals. The levels of Random Blood Sugar, Serum Total Bilirubin, Direct Bilirubin, Indirect Bilirubin, Glutamic-oxalacetic transaminase (SGOT), glutamic-pyruvic transaminase (SGPT), Serum Protein, Serum Albumin, Serum Creatinine, Serum Sodium, Serum Potassium were increased in cases as compared to controls. The p-value was non-significant for all the biochemical parameters. Conclusion: The present study concluded that the levels of Random Blood Sugar, Serum Total Bilirubin, Direct Bilirubin, Indirect Bilirubin, SGOT, SGPT, Serum Protein, Serum Albumin, Serum Creatinine, Serum Sodium, Serum Potassium were increased in cases as compared to healthy controls.

10.
Article | IMSEAR | ID: sea-218658

ABSTRACT

In the present study, Graphene-TiO2 catalysts are prepared by solvothermal method with varied graphene concentrations (1%, 2.5% and 5%). The prepared nanocomposites were characterized by FTIR, Raman and TEM. The photocatalytic activity towards the destruction of Escherichia coli in water under UV and UV-visible irradiations were studied. Graphene-TiO2 nano composite destructs the bacteria significantly at higher rates than unmodified TiO2 and graphene. The results indicates that, at the beginning, the inactivation of E. coli cells is more due to the generation of reactive oxygen species (ROS) like, OH, H2O2, and O2– . Among all samples, the nano composite containing 2.5 wt.% of graphene exhibits a complete E. coli destruction in a minimum irradiation time of 15 and 20 min under UV–Visible and UV light irradiation respectively. The high photocatalytic activity is achieved with the optimum loading concentration of 2.5 wt. % graphene on titania

11.
Indian J Ophthalmol ; 2022 Apr; 70(4): 1339-1342
Article | IMSEAR | ID: sea-224256

ABSTRACT

Purpose: To determine the efficacy and safety of botulinum toxin injection into the lacrimal gland as a symptomatic treatment of crocodile tear syndrome (CTS). Methods: Our study included six patients of unilateral gustatory hyper lacrimation following either an episode of facial paralysis or post trauma or any related surgery that posed a risk of damaging the facial nerve. Detailed history regarding previous trauma, duration of facial paralysis, previous significant surgery, and duration of steroid use following facial paralysis was noted. Schirmer抯 test was done at baseline and 3 months follow?up. Patients� consent was taken prior to treatment with botulinum toxin injection in the lacrimal gland. Repeat injection of 5 U botulinum toxin (type A) was administered into the lacrimal gland of all patients transconjunctivally within an interval of 1 week. All patients were followed up with Schirmer抯 test at 6 weeks and 3 months. Any complications during treatment were recorded. Results: All six patients showed complete or partial disappearance of reflex lacrimation while chewing following botulinum injection measured by a significant reduction in Schirmer抯 value. When comparing Schirmer test values before (27.8 � 3.58 mm) and after (11.6 � 2.28 mm) BTX?A injection, the differences observed (P = 0.002) were statistically significant (P < 0.05). Only two patients developed mild transitory ptosis. No other complications were noted. Conclusion: Transconjunctival botulinum toxin injection into the lacrimal gland is an effective and safe method to decrease reflex lacrimation during eating or chewing in CTS or gustatory hyper?lacrimation syndrome.

12.
Journal of Movement Disorders ; : 146-150, 2022.
Article in English | WPRIM | ID: wpr-926095

ABSTRACT

Objective@#This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years. @*Methods@#We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurology from 2001 to 2020. @*Results@#The follow-up for all patients ranged from 2 years to 9 years. Three patients had facial or bucco-oral morphea. Two patients maintained long-term improvements in symptoms after being treated with botulinum toxin for 4–7 years, while one patient reported improvement in symptoms with treatment of carbamazepine that subsequently remitted after pregnancy. @*Conclusion@#This report highlights the long-term outcome of HMS in our patients. Our patients reported a significant reduction or complete resolution of symptoms after treatment, and eventually, two patients were asymptomatic while off treatment.

13.
Journal of Movement Disorders ; : 156-161, 2022.
Article in English | WPRIM | ID: wpr-926094

ABSTRACT

Objective@#With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology. @*Methods@#This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia. @*Results@#Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1–58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years. @*Conclusion@#CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.

14.
Journal of Movement Disorders ; : 231-235, 2021.
Article in English | WPRIM | ID: wpr-900364

ABSTRACT

Objective@#Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS. @*Methods@#This was a retrospective chart review of patients with JS evaluated by movement disorder specialists. @*Results@#Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes. @*Conclusion@#Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

15.
Journal of Movement Disorders ; : 126-132, 2021.
Article in English | WPRIM | ID: wpr-900355

ABSTRACT

Objective@#There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders. @*Methods@#One hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations. @*Results@#The mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12–79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the “knowledge” domain and overall PKQ-BMD scores. The “number of injections” was also positively correlated with KAP performance. @*Conclusion@#This study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients’ and carers’ KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.

16.
Journal of Movement Disorders ; : 231-235, 2021.
Article in English | WPRIM | ID: wpr-892660

ABSTRACT

Objective@#Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS. @*Methods@#This was a retrospective chart review of patients with JS evaluated by movement disorder specialists. @*Results@#Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes. @*Conclusion@#Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

17.
Journal of Movement Disorders ; : 126-132, 2021.
Article in English | WPRIM | ID: wpr-892651

ABSTRACT

Objective@#There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders. @*Methods@#One hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations. @*Results@#The mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12–79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the “knowledge” domain and overall PKQ-BMD scores. The “number of injections” was also positively correlated with KAP performance. @*Conclusion@#This study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients’ and carers’ KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.

18.
Journal of Movement Disorders ; : 60-64, 2021.
Article in English | WPRIM | ID: wpr-874853

ABSTRACT

Objective@#Willingness to undergo deep brain stimulation (DBS) among patients with Parkinson’s disease (PD) and their overall satisfaction with the procedure is highly dependent upon expectations, which are based on the core concepts of knowledge, attitude and perceptions. The present study aims to evaluate these factors in patients and caregivers with PD from a single tertiary care hospital in India. @*Methods@#A structured questionnaire designed to assess the knowledge, attitude and perceptions about DBS in PD was administered to 400 patients with PD and their caregivers. @*Results@#A very small proportion of patients and caregivers were aware of DBS. Even those who claimed to be aware of DBS were inadequately informed and had incorrect knowledge, which led to wrong attitudes and perceptions. @*Conclusion@#There are very significant knowledge gaps and misconceptions regarding DBS among patients with PD and caregivers. Adequate and appropriate education is necessary to clarify these misconceptions to avoid the development of unrealistic expectations and poor satisfaction.

19.
Journal of Movement Disorders ; : 65-69, 2021.
Article in English | WPRIM | ID: wpr-874850

ABSTRACT

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

20.
J Biosci ; 2020 May; : 1-11
Article | IMSEAR | ID: sea-214289

ABSTRACT

Telomerase is a specialized enzyme which maintains telomere length at the extreme end of the chromosome.Over 90% of all cases of cancer show high expression of telomerase while in normal cells, its expression isextremely low or undetectable. Detection of telomerase activity in a wide range of breast cancer makestelomerase an interesting target for diagnosis and therapy. In this review, we have aimed to describe telomeraseas a therapeutic and accurate diagnostic target in breast cancer. Telomerase performs many extracurricularactivities apart from maintaining telomere length; here, we have also tried to address its role in epithelialmesenchymal transition (EMT) of breast cancer progression.

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