scholarly journals A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Brain ◽  
2020 ◽  
Vol 143 (10) ◽  
pp. 2904-2910
Author(s):  
Carolin K Scriba ◽  
Sarah J Beecroft ◽  
Joshua S Clayton ◽  
Andrea Cortese ◽  
Roisin Sullivan ◽  
...  
Keyword(s):  
Haplotype Analysis ◽  
Late Onset ◽  
Elevated Serum ◽  
Repeat Expansion ◽  
Serum Creatine Kinase ◽  
Asia Pacific ◽  
Single Origin ◽  
Core Haplotype ◽  
Asian Pacific ◽  
Intron 2

Abstract Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-Pacific cohort for CANVAS and identified a novel RFC1 repeat expansion motif, (ACAGG)exp, in three affected individuals. This motif was associated with additional clinical features including fasciculations and elevated serum creatine kinase. These features have not previously been described in individuals with genetically-confirmed CANVAS. Haplotype analysis showed our patients shared the same core haplotype as previously published, supporting the possibility of a single origin of the RFC1 disease allele. We analysed data from >26 000 genetically diverse individuals in gnomAD to show enrichment of (ACAGG) in non-European populations.

CANVAS is a common form of late-onset hereditary ataxia

2020 ◽  
pp. 51-52
Author(s):  
Е.П. Нужный ◽  
Н.Ю. Абрамычева ◽  
Е.Г. Воробьева ◽  
Е.О. Иванова ◽  
Ю.А. Шпилюкова ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Picture ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Repeat Expansion ◽  
Hereditary Ataxia ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.

Blocked by YouTube? Unseen digital intermediaries for social imaginaries in the Asia Pacific

2021 ◽  
pp. 1329878X2110179
Author(s):  
Jonathon Hutchinson
Keyword(s):  
Online Community ◽  
Community Building ◽  
Asia Pacific ◽  
User Engagement ◽  
Asia Pacific Region ◽  
Social Imaginaries ◽  
Content Sharing ◽  
Enterprise Education ◽  
Commercial Enterprise ◽  
Asian Pacific

YouTube is one of the most utilised online content sharing sites, enabling commercial enterprise, education opportunities, and facilities for vernacular creativity. Its user engagement demonstrates online community development; alongside its use as a distribution platform to monetise one’s branded self. However, as a subset of Alphabet Incorporated, its access is often restricted by governments of Asian Pacific countries. This research describes how countries that have banned YouTube still have exceptionally strong online communities, bringing into question the sorts of augmentations used by its participants. This article focuses on digital intermediation strategies, specifically the DIY approach of community building through the use of unseen infrastructures. This comparative study of YouTube channels in several Asia Pacific countries highlights the techniques that bypass limiting infrastructures to boost online community activity. The results demonstrate digital intermediation provides unique opportunities for key agents to contribute to strengthening social imaginaries within the Asia Pacific region.

Elevated Serum Creatine Kinase Level in Rotavirus Gastroenteritis

2005 ◽  
Vol 8 (2) ◽  
pp. 117 ◽  
Author(s):  
Won Tae Bae ◽  
Jae Hui Kim ◽  
Eun Sil Park ◽  
Ji Hyun Seo ◽  
Jae Young Lim ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Creatine Kinase Level ◽  
Elevated Serum ◽  
Serum Creatine Kinase ◽  
Rotavirus Gastroenteritis ◽  
Serum Creatine Kinase Level

scholarly journals Direct Oral Anticoagulants in Asian Patients with Atrial Fibrillation: Consensus Recommendations by the Asian Pacific Society of Cardiology on Strategies for Thrombotic and Bleeding Risk Management

2021 ◽  
Vol 16 ◽  
Author(s):  
Daniel TT Chong ◽  
Felicita Andreotti ◽  
Peter Verhamme ◽  
Jamshed J Dalal ◽  
Noppacharn Uaprasert ◽  
...  
Keyword(s):  
Disease Burden ◽  
Vitamin K Antagonists ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Bleeding Risk ◽  
Asia Pacific ◽  
Asian Populations ◽  
Asian Patients ◽  
Consensus Statements ◽  
Asian Pacific

The disease burden of AF is greater in Asia-Pacific than other areas of the world. Direct oral anticoagulants (DOACs) have emerged as effective alternatives to vitamin K antagonists (VKA) for preventing thromboembolic events in patients with AF. The Asian Pacific Society of Cardiology developed this consensus statement to guide physicians in the management of AF in Asian populations. Statements were developed by an expert consensus panel who reviewed the available data from patients in Asia-Pacific. Consensus statements were developed then put to an online vote. The resulting 17 statements provide guidance on the assessment of stroke risk of AF patients in the region, the appropriate use of DOACs in these patients, as well as the concomitant use of DOACs and antiplatelets, and the transition to DOACs from VKAs and vice versa. The periprocedural management of patients on DOAC therapy and the management of patients with bleeding while on DOACs are also discussed.

scholarly journals 5′ UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy

Brain ◽  
2020 ◽  
Author(s):  
Jianying Xi ◽  
Xilu Wang ◽  
Dongyue Yue ◽  
Tonghai Dou ◽  
Qunfeng Wu ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Trinucleotide Repeat ◽  
Late Onset ◽  
Age At Onset ◽  
Large Family ◽  
Repeat Expansion ◽  
Chain Reaction ◽  
Cgg Repeat ◽  
Sporadic Cases ◽  
Polymerase Chain

Abstract Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, and distal limb muscles. A recent report suggested a non-coding trinucleotide repeat expansion in LRP12 to be associated with the disease. Here we report a genetic study in a Chinese cohort of 41 patients with the clinical diagnosis of oculopharyngodistal myopathy (21 cases from seven families and 20 sporadic cases). In a large family with 12 affected individuals, combined haplotype and linkage analysis revealed a maximum two-point logarithm of the odds (LOD) score of 3.3 in chromosomal region chr19p13.11-p13.2 and narrowed the candidate region to an interval of 4.5 Mb. Using a comprehensive strategy combining whole-exome sequencing, long-read sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal CGG repeat expansion in the 5′ UTR of the GIPC1 gene that co-segregated with disease. Overall, the repeat expansion in GIPC1 was identified in 51.9% independent pedigrees (4/7 families and 10/20 sporadic cases), while the repeat expansion in LRP12 was only identified in one sporadic case (3.7%) in our cohort. The number of CGG repeats was <30 in controls but >60 in affected individuals. There was a slight correlation between repeat size and the age at onset. Both repeat expansion and retraction were observed during transmission but somatic instability was not evident. These results further support that non-coding CGG repeat expansion plays an essential role in the pathogenesis of oculopharyngodistal myopathy.

Tumor necrosis factor haplotype analysis amongst schizophrenia probands from four distinct populations in the Asia-Pacific region

2003 ◽  
Vol 121B (1) ◽  
pp. 1-6 ◽  
Author(s):  
Herlina Y. Handoko ◽  
Derek J. Nancarrow ◽  
Nicholas K. Hayward ◽  
Jude U. Ohaeri ◽  
Henry Aghanwa ◽  
...  
Keyword(s):  
Tumor Necrosis Factor ◽  
Tumor Necrosis ◽  
Haplotype Analysis ◽  
Asia Pacific ◽  
Pacific Region ◽  
Asia Pacific Region ◽  
Necrosis Factor

scholarly journals Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain ◽  
2020 ◽  
Vol 143 (2) ◽  
pp. 480-490 ◽  
Author(s):  
Andrea Cortese ◽  
Stefano Tozza ◽  
Wai Yan Yau ◽  
Salvatore Rossi ◽  
Sarah J Beecroft ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Late Onset ◽  
Sensory Neuropathy ◽  
Repeat Expansion ◽  
Cerebellar Dysfunction ◽  
Full Spectrum ◽  
Ataxic Neuropathy ◽  
Walking Aids ◽  
Repeat Expansions ◽  
Walking Difficulty

Abstract Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist.

scholarly journals Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

2017 ◽  
Vol 2017 ◽  
Author(s):  
Marina Tsoli ◽  
Anna Angelousi ◽  
Dimitra Rontogianni ◽  
Constantine Stratakis ◽  
Gregory Kaltsas
Keyword(s):  
Parathyroid Carcinoma ◽  
Late Onset ◽  
Tumor Biology ◽  
Elevated Serum ◽  
Specific Treatment ◽  
Distant Metastases ◽  
List Type ◽  
Parathyroid Cancer ◽  
Laboratory Findings ◽  
The Right

Summary Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment. Learning points: Metastases can develop many years after parathyroid cancer diagnosis. Surgery is the only curative treatment for parathyroid carcinoma. Chemotherapy and radiotherapy prove to be ineffective in parathyroid cancer treatment. Patient registering is required in order to delineate underlining pathology and offer specific treatment.

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