scholarly journals RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

2021 ◽  
Author(s):  
Matteo Tagliapietra ◽  
Davide Cardellini ◽  
Moreno Ferrarini ◽  
Silvia Testi ◽  
Sergio Ferrari ◽  
...  
Keyword(s):  
Care Center ◽  
Axonal Neuropathy ◽  
Tertiary Care ◽  
Sensory Neuropathy ◽  
Nerve Fibers ◽  
Repeat Expansion ◽  
Sural Nerve Biopsy ◽  
Prevalence Odds Ratio ◽  
Axonal Polyneuropathy ◽  
Factor C

Abstract Background A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. “Chronic Idiopathic Axonal Polyneuropathy” (CIAP) is a common indolent axonal neuropathy of adulthood which remains without an identifiable cause despite thorough investigations. Methods We screened 234 probands diagnosed with CIAP for a pathogenic biallelic RFC1 AAGGG repeat expansion. Patients were selected from 594 consecutive patients with neuropathy referred to our tertiary-care center for a sural nerve biopsy over 10 years. Results The RFC1 AAGGG repeat expansion was common in patients with pure sensory neuropathy (21/40, 53%) and less frequent in cases with predominantly sensory (10/56, 18%, P < 0.001) or sensorimotor (3/138, 2%, P < 0.001) neuropathy. The mutation was associated with sensory ataxia (τb = 0.254, P < 0.001), autonomic disturbances (35% vs 8%, Prevalence Odds Ratio—POR 6.73 CI 95% 2.79–16.2, P < 0.001), retained deep tendon reflexes (score 18.0/24 vs 11.5/24, R = 0.275, P < 0.001). On pathology, we observed absent/scant regenerative changes (τb = − 0.362, P < 0.001), concomitant involvement of large (100% and 99%, n.s.), small myelinated (97% vs 81%, POR 7.74 CI 95% 1.03–58.4, P = 0.02) and unmyelinated nerve fibers (85% vs 41%, POR 8.52 CI 95% 3.17–22.9, P < 0.001). Cerebellar or vestibular involvement was similarly rare in the two groups. Conclusions This study highlights the frequent occurrence of the RFC1 AAGGG repeat expansion in patients diagnosed with CIAP and characterizes the clinical and pathological features of the related neuro(no)pathy.

scholarly journals Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS)

2020 ◽  
Author(s):  
Mathieu Dupré ◽  
Ruben Hermann ◽  
Caroline Froment Tilikete
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset ◽  
Genetic Disorder ◽  
Axonal Neuropathy ◽  
Sensory Neuropathy ◽  
Bilateral Vestibulopathy ◽  
Familial Form ◽  
Vestibulo Ocular Reflex ◽  
Classical Triad ◽  
Factor C

Abstract The syndrome of cerebellar ataxia with neuropathy and bilateral vestibular areflexia (CANVAS) has emerged progressively during the last 30 years. It was first outlined by the neurootology/neurophysiology community in the vestibular areflexic patients, through the description of patients slowly developing late-onset cerebellar ataxia and bilateral vestibulopathy. The characteristic deficit of visuo-vestibulo-ocular reflex (VVOR) due to the impaired slow stabilizing eye movements was put forward and a specific disease subtending this syndrome was suggested. The association to a peripheral sensory axonal neuropathy was described later on, with neuropathological studies demonstrating that both sensory neuropathy and vestibular areflexia were diffuse ganglionopathy. Clinical and electrophysiological criteria of CANVAS were then proposed in 2016. Besides the classical triad, frequent chronic cough, signs of dysautonomia and neurogenic pains were frequently observed. From the beginning of published cohorts, sporadic as well as familial cases were reported, the last suggestive of an autosomal recessive mode of transmission. The genetic disorder was discovered in 2019, under the form of abnormal biallelic expansion in the replication factor C subunit 1 (RFC1) in a population of late-onset ataxia. This pathological expansion was found in 100% of the familial form and 92% of sporadic ones when the triad was complete. But using the genetic criteria, the phenotype of CANVAS seems to expand, for exemple including patients with isolated neuronopathy. We propose here to review the clinical, electrophysiological, anatomical, genetic aspect of CANVAS in light of the recent discovery of the genetic aetiology, and discuss differential diagnosis, neuropathology and physiopathology.

scholarly journals Immunohistochemistry-based comparative study in detection of Hirschsprung’s disease in infants in a Tertiary Care Center

2017 ◽  
Vol 9 (02) ◽  
pp. 076-080 ◽  
Author(s):  
Bedabrata Mukhopadhyay ◽  
Moumita Sengupta ◽  
Chhanda Das ◽  
Madhumita Mukhopadhyay ◽  
Shibsankar Barman ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Care Center ◽  
Tertiary Care ◽  
Nerve Fibers ◽  
Presenting Symptoms ◽  
Male Preponderance ◽  
Indispensable Tool ◽  
Sensitivity Specificity

Abstract BACKGROUND: Hirschsprung’s disease (HD) is the major cause of pediatric intestinal obstruction with a complex pattern of inheritance. The absence of ganglion cells along with an analysis of hypertrophy and hyperplasia of nerves in the nerve plexus of submucosa and muscularis mucosae is regarded as a potential hallmark for its diagnosis. AIMS AND OBJECTIVES: This study was undertaken to ascertain the (1) clinical profile, (2) mode of presentation, and (3) to compare the role of calretinin immunostaining with acetylcholinesterase in the diagnosis of HD. MATERIALS AND METHODS: This prospective and observational study was conducted in the Department of Pathology, IPGME & R from June 2014 to May 2015. One hundred and four patients clinically and radiologically diagnosed with HD underwent surgery were included in the study. The data of every patient including age, sex, and presenting symptoms were recorded. Eventually, histopathological, calretinin, and acetylcholinesterase immunohistochemical examination were done. RESULTS: Total numbers of cases studied were 104, which aged between 0 days and 365 days. Male preponderance (76.92%) was noted. The overall sensitivity, specificity, positive, and negative predictive value of acetylcholinesterase were 100%, 86.44%, 84.91%, and 100%, respectively. The concordance of detection of ganglion cells and nerve fibers, and thereby diagnosis of Hirschsprung’s and non-HD using calretinin and the gold standard was statistically in strong agreement (κ = 0.749, 95% confidence interval: 0.635–0.863). CONCLUSIONS: Calretinin stands out as the single and indispensable tool that differentiates HD from other mimickers.

EPIDEMIOLOGY AND OUTCOMES OF ELECTRIC BURN INJURY AT TERTIARY CARE CENTER IN JODHPUR, RAJASTHAN

2019 ◽  
Vol 3 (6) ◽  
Author(s):  
Bharti Saraswat ◽  
Ashok Yadav ◽  
Krishna Kumar Maheshwari
Keyword(s):  
Burn Injury ◽  
Low Voltage ◽  
Care Center ◽  
Tertiary Care ◽  
The Body ◽  
Electrical Injury ◽  
Age Group ◽  
Electric Circuits ◽  
Medical College ◽  
Social Burden

Background- Electric burns and injuries are the result of electric current passing through the body. Temporary or permanent damage can occur to the skin, tissues, and major organs. Methods- This prospective study was carried out on patients admitted in burn unit of department of surgery M.G. Hospital associated with Dr. S.N. Medical College Jodhpur. Records of the patients admitted from January 2018 to December 2018 were studied. Bed head tickets of the patients evaluated in detail. Results- In our study out of 113 patients maximum no. of patients were in age group of 21-30 years 44 (38.94%) followed by age group <11 years in 21 (18.58%) patients and age group of > 60 years in only 3 (2.65%).39 (34.51%) patients were farmer and 15 (13.27%) were electrician in out of 113 total patients, while 37 (32.74%) were without any occupation. 65 (57.52%) cases of high voltage (HV) electrical injury and 48 (42.48%) cases were of low voltage (LV) electrical injury. Conclusion- Morbidity leading to permanent disabilities make the person physically dependent on others. It can be prevented by educating the people about the proper handling to electric circuits & devices. Proper communication among the electricians may help in lowering such accidents. Proper rehabilitation of the handicapped person & employment to the member of the affected family may reduce the social burden caused by such electricity concerned accidents.

Study of risk factors of eclampsia in a tertiary care center

2019 ◽  
Vol 12 (2) ◽  
pp. 31-35
Author(s):  
Padma Chandavathu ◽  
◽  
Akurathi Krishna Rao ◽  
Keyword(s):  
Risk Factors ◽  
Care Center ◽  
Tertiary Care ◽  
Tertiary Care Center
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