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1.
Cureus ; 14(11): e31019, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36475157

ABSTRACT

Congenital insensitivity to pain with anhidrosis, or hereditary sensory and autonomic neuropathy (HSAN) type IV, is an exceedingly rare neurogenetic disorder. Reported causes are homozygous or compound heterozygous loss-of-function mutations in the neurotrophic tyrosine receptor kinase 1 gene (NTRK1). Characteristically, patients with this disorder exhibit a complete diminution of pain and temperature sensations over the body disrupted sweat gland functioning, and variable degrees of sensation and cognitive impairments. We hereby present the clinical and neurophysiologic features of a 15-month-old boy with a homozygous frameshift mutation in c.1860_186insT. (p.Pro621Serfs*12) in the NRTK1 gene, consistent with the diagnosis of congenital insensitivity to pain with anhidrosis.

2.
Int J Health Sci (Qassim) ; 11(4): 28-34, 2017.
Article in English | MEDLINE | ID: mdl-29085265

ABSTRACT

OBJECTIVES: Hepatitis B virus (HBV) and hepatitis C virus (HCV) are the most common causes of liver cirrhosis and hepatocellular carcinoma. Medical, applied medical science, and dental students constitute a high-risk group for HBV and HCV infections during their training or at the beginning of their careers. This study aimed to explore senior health science students' knowledge of and attitudes toward these infections. METHODS: Between December 2014 and December 2015, a cross-sectional survey was conducted among senior health science at the College of Medicine, the College of Dentistry, and the Laboratory Section of Applied Medical Sciences in Qassim University, Al-Qassim, Saudi Arabia. A validated questionnaire was randomly distributed to male and female senior students to test students' knowledge of the general information on hepatitis B and C as well as their attitudes toward hepatitis B and hepatitis C patients and the disease in general. RESULTS: A total of 205 respondents were invited, but only 180 participated in this survey. Higher knowledge was positively correlated with a higher belief in providing equitable care to hepatitis B/C patients and general anxiety about handling such patients (P < 0.004). Higher beliefs in equity and anxiety predicted higher knowledge when everything else was held constant. CONCLUSION: We found a positive relationship between knowledge levels and attitudes toward HBV and HCV patients. We therefore encourage health science colleges to offer more lectures on HBV and HCV to improve students' knowledge and thereby improve their attitudes.

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