The Experts below are selected from a list of 114 Experts worldwide ranked by ideXlab platform

Wang Lemin - One of the best experts on this subject based on the ideXlab platform.

H E Xiaolei - One of the best experts on this subject based on the ideXlab platform.

Lan Zhou - One of the best experts on this subject based on the ideXlab platform.

  • novel mutation in kcna1 causes episodic ataxia with Paroxysmal Dyspnea
    Muscle & Nerve, 2008
    Co-Authors: Steven J Shook, Hafsa Mamsa, Robert W Baloh, Lan Zhou
    Abstract:

    Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel–encoding gene KCNA1. It is characterized by attacks of ataxia and continuous myokymia. Respiratory muscle involvement has not been previously reported in EA1. We clinically evaluated a family with features of EA1 and Paroxysmal shortness of breath. Coding and flanking intronic regions of KCNA1 were sequenced. We identified a novel 3-nucleotide deletion mutation in KCNA1 in the affected individuals. Our findings of a deletion mutation with unusual respiratory muscle involvement expand the genetic and clinical spectrum of EA1. Muscle Nerve, 2007

Steven J Shook - One of the best experts on this subject based on the ideXlab platform.

  • novel mutation in kcna1 causes episodic ataxia with Paroxysmal Dyspnea
    Muscle & Nerve, 2008
    Co-Authors: Steven J Shook, Hafsa Mamsa, Robert W Baloh, Lan Zhou
    Abstract:

    Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel–encoding gene KCNA1. It is characterized by attacks of ataxia and continuous myokymia. Respiratory muscle involvement has not been previously reported in EA1. We clinically evaluated a family with features of EA1 and Paroxysmal shortness of breath. Coding and flanking intronic regions of KCNA1 were sequenced. We identified a novel 3-nucleotide deletion mutation in KCNA1 in the affected individuals. Our findings of a deletion mutation with unusual respiratory muscle involvement expand the genetic and clinical spectrum of EA1. Muscle Nerve, 2007

Sohei Makino - One of the best experts on this subject based on the ideXlab platform.

  • Clinical and Physiological Features of Chronic Pulmonary Emphysema with Paroxysmal Dyspnea Attacks Masquerading as Bronchial Asthma
    The Japanese journal of thoracic diseases, 1991
    Co-Authors: Masao Toda, Shinji Motojima, Takeshi Fukuda, Sohei Makino
    Abstract:

    Cases of chronic pulmonary emphysema accompanied with Paroxysmal Dyspnea attacks are often misdiagnosed as bronchial asthma. These patients repeatedly fall into a state of life-threatening respiratory failure. We must make an accurate diagnosis of emphysema to provide care of them. To clarify the possibility of doing this, we investigated the clinical and physiological features (primarily respiratory function) of emphysema. We observed twenty-five patients with chronic pulmonary emphysema and with chronic bronchial asthma, previously confirmed by selective alveolo-bronchogram (SAB); this technique reliably diagnoses emphysema, but often induces Dyspnea attacks due to the stimulation resulting from intratracheal and intrabronchial procedures. In eight patients, chronic pulmonary emphysema was accompanied by an attack of Paroxysmal wheezing and Dyspnea; chronic pulmonary emphysema with wheezing (WPE). In eight other patients, chronic pulmonary emphysema was present without such attacks; usual pulmonary emphysema (UPE). In the final nine patients, chronic bronchial asthma (CBA) was present, while emphysema was ruled out by means of SAB. In all patients, we measured respiratory function before and after the combination therapy of intravenous aminophylline and subcutaneous epinephrine, which followed daily oral administration of prednisolone (PAE-treatment). In the WPE group, significant increases in measurement of various respiratory functions, including VC, RV, RV/TLC%, FVC, FEV1.0, PFR and V75 (p less than .05 excluded in FEV1.0 and PFR were p less than .01), were found after the PAE-treatment, compared with the values revealed before the treatment. In the UPE group, there were few changes PAE-treatment, compared with the values revealed before the treatment.(ABSTRACT TRUNCATED AT 250 WORDS)