6 results match your criteria: "Harbin Medical University the 2nd Affiliated Hospital[Affiliation]"
Factors influencing alertness to premonitory symptoms in stroke patients with pre-hospital delay.
Public Health Nurs
November 2022
School of Nursing, Qingdao University, Qingdao, Shandong Province, China.
Article Synopsis
- The study aimed to understand how aware stroke patients are of warning signs before a stroke happens and what can affect their awareness.
- Researchers looked at 352 stroke patients to find out how their knowledge and support from friends and family influenced their alertness to these warning signs.
- It was found that knowing more about strokes and having friends’ support helps patients be more alert, but family support might not always help.
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
Mol Vis
February 2012
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, China.
Purpose: To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD).
Methods: A four-generation Chinese family with SCD and 50 unrelated normal individuals as controls were enrolled in. The complete ophthalmic examination was performed and blood samples were taken for subsequent genetic analysis.
A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
Mol Vis
June 2010
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, Heilongjiang, China.
Purpose: To identify mutations in a Chinese family with congenital cataract and microcornea.
Methods: Detailed family history and clinical data were recorded. Genomic DNA was extracted from leukocytes of venous blood of the patients and noncarriers in this family along with 100 normal individuals.
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
Mol Vis
November 2009
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, China.
Purpose: To identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I).
Methods: Genomic DNA of three affected, four unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by polymerase chain reaction (PCR) methods and direct sequencing was carried out for mutation analysis.
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
Mol Vis
July 2008
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, China.
Purpose: To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD).
Methods: Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of exons of TGFBI were performed.
Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.
Mol Vis
August 2007
Department of Ophthalmology, Harbin Medical University The 2nd Affiliated Hospital, Harbin, Heilongjiang.
Purpose: The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment of the eye's iris. Aniridia may be broadly divided into hereditary and sporadic forms. The function of the PAX6 gene in these two forms of aniridia is still poorly defined.
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