Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation

Yoo E‐H, Woo H, Ki C‐S, Lee HJ, Kim D‐K, Kang I‐S, Park P, Sung K, Lee CS, Chung T‐Y, Moon JR, Han H, Lee S‐T, Kim J‐W. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin‐1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical characteristics and genetic background of Korean patients with MFS. In 39 Korean patients with MFS who met the Ghent criteria, the most common clinical finding was aortic dilatation and/or dissection (94.9%), whereas only 35.9% of patients had ectopia lentis. The majority of MFS patients had fewer than four of the skeletal findings required to fulfill the major skeletal Ghent criterion for MFS. Only 21% of Korean patients had major skeletal abnormalities and most cases showed only minor skeletal involvement. FBN1 gene mutations were detected in 35 out of 39 patients (89.7%), which is similar to rates presented in the previous reports. These results suggest that some clinical features in Korean patients with MFS differed from those reported in Western MFS patients.     

Continuity in different care modes and its relationship to quality of life: a randomised controlled trial in patients with COPD

Background

New care modes in primary care may affect patients’ experienced continuity of care.

Aim

To analyse whether experienced continuity for patients with chronic obstructive pulmonary disease (COPD) changes after different care modes are introduced, and to analyse the relationship between continuity of care and patients’ quality of life.

Design and setting

Randomised controlled trial with 2-year follow-up in general practice in the Netherlands.

Method

A total of 180 patients with COPD were randomly assigned to three different care modes: self-management, regular monitoring by a practice nurse, and care provided by the GP at the patient''s own initiative (usual care). Experienced continuity of care as personal continuity (proportion of visits with patient''s own GP) and team continuity (continuity by the primary healthcare team) was measured using a self-administered patient questionnaire. Quality of life was measured using the Chronic Respiratory Questionnaire.

Results

Of the final sample (n = 148), those patients receiving usual care experienced the highest personal continuity, although the chance of not contacting any care provider was also highest in this group (29% versus 2% receiving self-management, and 5% receiving regular monitoring). There were no differences in experienced team continuity in the three care modes. No relationship was found between continuity and changes in quality of life.

Conclusion

Although personal continuity decreases when new care modes are introduced, no evidence that this affects patients’ experienced team continuity or patients’ quality of life was found. Patients still experienced smooth, ongoing care, and considered care to be connected. Overall, no evidence was found indicating that the introduction of new care modes in primary care for patients with COPD should be discouraged.     

Lead levels of Culex mosquito larvae inhabiting lead utilizing factory

Objective

To determine lead level primarily in Culex quinquefasciatus (Cx. quinquefasciatus), and Culex gelidus (Cx. gelidus) larvae inhabiting lead consuming factories, and to putatively estimate eco-toxicological impact of effluents from the firms.

Methods

Third instars larvae were sampled by standard dipping method and lead concentrations in the larvae and their respective surrounding factory aquatic environments were determined through standard atomic absorption spectrophotometry (AAS).

Results

Cx. quinquefasciatus was the most abundant species followed by Cx. gelidus. The levels of lead were higher in the Cx. quinquefasciatus (1.08-47.47 µg/g), than in the wastewaters surface (0.01-0.78 µg/mL) from the factories or closer areas around factories. Other species were not reaching the criteria for lead determination.

Conclusions

The Cx. quinquefasciatus larvae can bio-accumulate the metal and can potentially serve as a biomarker of lead contamination, to complemente conventional techniques.     

Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium

Although previous studies demonstrated carbonic anhydrase (CA) activity in the human endometrium, the CA isozyme(s) responsible for this activity has not been established. In this report, we provide the first evidence that the CA isozyme XII, a recently identified transmembrane isozyme that is expressed in normal kidney and greatly overexpressed in some renal cancers, is present in endometrium. We show by immunohistochemistry that CA XII is expressed in the basolateral plasma membrane of epithelial cells of normal human endometrium. Expression of CA XII in uterus was confirmed by Northern blotting. Detergent-solubilized CA XII was isolated from human endometrium by inhibitor affinity chromatography and characterized by isoelectric focusing and Western blot as a polypeptide with a pI of 6.3. The high expression of CA XII in the endometrial epithelium suggests that it may be functionally linked to the pH-dependent events in spermatozoa that precede fertilization. Its basolateral location and extracellular active site could also allow it to influence the morphological changes in endometrium that occur during the menstrual cycle.