Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree / 中华心血管病杂志

<p><b>OBJECTIVE</b>To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship.</p><p><b>METHODS</b>The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls. The genotype-phenotype correlation was analyzed in the family.</p><p><b>RESULTS</b>A missense mutation (c.2191C > T, p. Pro731Ser) in the 20th exon of MYH7 gene was identified. This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM. Totally 13 family members carried this mutation, including 10 patients with HCM and 3 asymptomatic mutation carriers. The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure, including dyspnea, palpitations, chest pain, amaurosis or syncope. Five patients were diagnosed as HCM at the age of 16 or younger. One family member suffered sudden cardiac death.</p><p><b>CONCLUSIONS</b>The Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.</p>

Efficacy of combination of pranoprofen and artificial tears in treatment of dry eye syndrome after recovery from acute conjunctivitis / 中国医师杂志

Objective To observe the efficacy of combination of pranoprofen and artificial tears in treatment of dry eye syndrome after recovery from acute conjunctivitis. Methods This study involved 206 eyes of 157 consecutive patients who had recovered from acute conjunctivitis after routine treatment between July 2008 and September 2010. All cases were randomly divided into artificial tears group (79cases,104eyes) : artificial tears eye drops alone and combination group(78cases,102eyes) : pranoprofen combined with application of artificial tears eye drops. All patients'symptoms, signs such as tear film break 2 up time (BUT ) ,Schirmer I test (SIT) , corneal fluoresce staining (FL) score at 3,7,14days after treatment Were observed. Results All patients finished the trial at the end of the follow-up duration. There were significant differences in symptoms, BUT and corneal fluoresce staining between the two groups after treatment,combination group was superior to artificial tears group in BUT and FL. Conclusion Pranoprofen combined with artificial tears eye drops is superior to artificial tears eye drops alone

INTRATHECAL OXYGEN IN THE TREATMENT OF DELAYED NEUROLOGIC SEQUELAE OF CARBON MONOXIDE INTOXICATION: REPORT OF 8 CASES / 解放军医学杂志

8 patients, 6 males and 2 females, aged 26-56 years, with delayed neurologic sequelae following CO intoxication, were treated. The lucid intervals before the appearance of neurological sequelae varied from 5 days to 3 months, and the course of disease lasted for 7 days to 2.3 years. The clinical manifestations were mainly dementia, mutism, urinary or fecal incontinence, and gait disturbance. Among the 8 patients, clinical cure was obtained in 5 and improved in 3 after intrathecal oxygen administration.