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Number of results: 3
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Abstract

Our individual genome is considered to be immutable, but mutations sometimes appear. Identifying them can be a complex challenge.
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Authors and Affiliations

Janusz G. Zimowski
1

  1. Department of Genetics and Genomics,National Medical Institute of the Ministry of theInterior and Administration in Warsaw, Poland
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Abstract

This paper discusses a mem-capacitor circuit which is based on two MO-OTA along with a multiplier and 4 passive elements. This circuit is a charge-controlled memcapacitor emulator which is independent of any memristor also it consists the feature of electronic tunability. Additionally, this circuit is simpler and uses less hardware because it lacks a mutator and uses fewer active-passive components. The circuit behaviour is justified through various simulations in cadence Orcad tool with 180nm CMOS TSMC parameters. Additionally, conclusions from simulations and theory are validated experimentally through commercially available IC.
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Authors and Affiliations

Chandra Shankar
1
Anuj Nagar
1
Ashutosh Singh
1
Ankleshwar Kumar
1

  1. Department of Electronics & Communication Engineering, JSS Academy of Technical Education, NOIDA, Uttar Pradesh, India
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Abstract

The heat-shock protein beta-1 (HSPB1) is one of small heat-shock proteins that play an im-portant role in cell functioning by promoting correct folding of other proteins. The HSPB1 mutations are known to cause distal Hereditary Motor Neuropathy type 2B (dHMN2B) and Charcot-Marie-Tooth disease type 2F (CMT2F). More than 30 different mutations in the HSPB1 have been found in patients with CMT2F and dHMN2B. There are cases of the Thr151Ile HSPB1 mutation described in 4 countries: Croatia, Japan, France and Poland. In this paper we present a Polish family with p.Thr151Ile mutation causing distal hereditary motor neuropathy. A 48-year-old male patient presented progressive bilateral lower limb weakness and gait difficulty of typical onset. The presentation of the disease in his daughter, who carries the same mutation is yet uncertain. She has currently no clinical symptoms of the disease but registered mild muscle damage in EMG with correct conduction parameter in EMG.
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Authors and Affiliations

Katarzyna Homa
1
Kamila Żur-Wyrozumska
2 3

  1. Department of Neurology, The Gabriel Narutowicz Specialist Municipal Hospital, Kraków, Poland
  2. Department of Neurology, The Józef Dietl Specialist Hospital, Kraków, Poland
  3. Department of Medical Education, Jagiellonian University Medical College, Kraków, Poland

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