Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and hypodontia. Mutations of the interferon regulatory factor 6 gene (IRF6) have been recently described in patients with VWS. The entire 9 exons of the IRF6 gene in two brothers of Turkish origin clinically diagnosed with Van der Woude syndrome and four healthy family members were screened for mutations using a newly established denaturing gradient gel electrophoresis (DGGE) method. A novel heterozygous mutation in exon 2 (DNA binding region) of the IRF6 gene, p.Arg84Gly, was found in both brothers with VWS and in their clinically asymptomatic mother. Our results suggest a dominant negative effect of the p.Arg84Gly mutation in the VWS of both patients. Non-penetrance of this mutation is suggested in the mother of the patients.     

High-dose atorvastatin causes regression of endometriotic implants: a rat model

BACKGROUND: This prospective randomized-controlled animal study was designed to determine the effects of atorvastatin on experimentally induced endometriosis in a rat model. METHODS: Thirty-seven Wistar-Albino rats in which endometriotic implants were induced were randomly divided into four groups. Group I (Low-dose atorvastatin group, eight rats) were given 0.5 mg kg(-1) day(-1) oral atorvastatin. Group II (High-dose atorvastatin group, 10 rats) were given 2.5 mg kg(-1) day(-1) oral atorvastatin. Group III were given a single dose of 1 mg kg(-1) s.c. leuprolide acetate (GnRH agonist group, nine rats). Group IV were given no medication and served as controls (10 rats). All rats received the treatment for 21 days and were then euthanized to assess the implants' size, vascular endothelial growth factor (VEGF) level in peritoneal fluid and histological score. RESULTS: At the end of the treatment, the mean areas of implants were smaller and VEGF levels in peritoneal fluid were lower in Groups II and III than those in Group I and the control group (all P < 0.05). The mean areas of implants decreased from 41.2 +/- 13.9 to 22.7 +/- 13.9 mm(2) after medication in Group II and decreased from 41.2 +/- 18.1 to 13.1 +/- 13.8 mm(2) in Group III (both P < 0.05), whereas in Group I, the mean area increased from 43.0 +/- 12.7 to 50.5 +/- 13.9 mm(2) (P < 0.05). CONCLUSIONS: High-dose atorvastatin caused a significant regression of endometriotic implants.     

Association between the growth arrest-specific 6 (Gas6) gene polymorphism c.834 + 7G>A and preeclampsia

Objective: Preeclampsia (PE) is a hypertensive disease of pregnancy complicating 2–8% of all pregnancies. The exact pathophysiology still remains unknown. Growth arrest-specific 6 (Gas6) is a member of the vitamin K-dependent protein family and it has been suggested as a novel atherothrombotic risk factor with anti-angiogenic and pro-atherogenic properties. The goal of the our study was to investigate the relationships between the c.834?+?7G?>?A polymorphism of GAS6, plasma Gas6 levels and PE.

Methods: A total of 150 women, including 82 preeclamptic pregnant women and 68 normotensive pregnant (NP) women, were recruited in the current study. Blood samples were taken from all participitants. Plasma Gas6 levels measured by an enzyme-linked immunosorbent assay. GAS6 polymorphism was determined using a PCR-RFLP method.

Results: The plasma Gas6 levels of preeclamptic patients were significantly lower than those of NP women (8.65?±?3.70?ng/ml and 10.89?±?4.23?ng/ml respectively, p?<?0.001). The GG genotype was the most prevalent, and the risk of PE was 3.5-fold higher in pregnant women with GG genotype compared to woman with AA genotype (p?<?0.01). The A allele was less frequent in preeclamptic patients than in control subjects (OR?=?2.118, 95% CI?=?1.330–3.371, p?<?0.001).

Conclusions: Our results suggest that GAS6 c.834?+?7G?>?A polymorphism may have a pivotal role in the pathogenesis of PE suggesting that the A allele has a protective role for PE.     

Factors affecting relapse in patients with Granulomatosis Polyangiitis: a single-center retrospective cohort study

Background and aimThis study aimed to determine the frequency of relapse, the risk factors for relapse, and the correlation of relapse with immunosuppressive regimens in patients with granulomatosis polyangiitis (GPA).Materials and methodsThe demographic characteristics, the clinical, laboratory, and radiological findings, the immunosuppressive treatment regimens, and the remission and relapse rates of 50 patients with GPA were obtained retrospectively from medical records.Results: The mean relapse-free survival rates at years 1, 3, and 5 were 82%, 60%, and 50%, respectively. Increased relapse rates were observed in patients who had cavitary lung lesions (52.2% vs. 22.2%, p = 0.04) and in those who had elevated serum creatinine levels (1.8 vs. 0.9, p = 0.00). The patients received two different types of remission induction therapies; 36% of them received the combination therapy involving cyclophosphamide (CYC) and rituximab (RTX), and 62% received CYC alone. Relapse was observed in 22.3% of the patients who received the combination remission induction therapy and in 61.3% of the patients who received CYC alone (P = 0.003). ConclusionAn increased risk of relapse was observed in patients who had cavitary lung lesions and in those who had elevated serum creatinine levels. The combined use of RTX and CYC for the remission therapy in GPA reduced the relapse rates compared with the use of CYC alone     

Lateral scapular slide test and scapular mobility in volleyball players

Context:

The stability of the scapula in relation to the entire moving upper extremity is the key in the throwing sequence. The importance of scapular positioning in volleyball players has been well documented in the literature, but no one has compared scapular positioning between volleyball players and sedentary people.

Objective:

To compare measurements of scapular mobility obtained using the lateral scapular slide test between volleyball players and sedentary participants without shoulder impairments and to compare changes in scapular mobility in players according to the number of years of sport participation.

Design:

Cross-sectional study.

Setting:

University research laboratory.

Patients or Other Participants:

A total of 121 people at a single university volunteered. Of these, 67 were sedentary (age = 24.3 ± 2.34 years, height = 1.69 ± 0.09 m, mass = 65.1 ± 11.91 kg); 54 were volleyball players from 4 professional teams and were separated into 2 groups according to their years of sport participation. The first group was named young players (n = 31; age = 17.7 ± 2.58 years, height = 1.83 ± 0.10 m, mass = 68.3 ± 12.21 kg, sport participation ≤ 9 years), and the second group was named old players (n = 23; age = 26.9 ± 3.39 years, height = 1.95 ± 4.38 m, mass = 90.7 ± 5.75 kg, sport participation ≥ 10 years).

Main Outcome Measure(s):

Study participants completed a rating scale for pain and a questionnaire about demographic and shoulder problems. One assessor performed the lateral scapular slide test and additional flexibility measurements around the shoulder girdle. Flexibility (external rotation, internal rotation) and scapular position (1, 2, 3) were compared among groups (young players, old players, sedentary people) and between sides (dominant, nondominant).

Results:

In sedentary participants, we found differences for position 1 (t₆₆ = 3.327, P = .002), position 2 (t₆₆ = 2.491, P = .004), position 3 (t₆₆ = 2.512, P = .006), and internal rotation (t₆₆ = 2.592, P = .001) between the dominant and nondominant sides. In old players, we found differences for position 2 between the dominant and nondominant sides (t₂₂ = 2.956, P = .004). For position 2 (F_2,118 = 4.265, P = .02) and position 3 (F_2,118 = 4.702, P = .01), we found differences between young and old players. For internal rotation, we found differences between sedentary and old players (F_2,118 = 6.578, P = .002) and between young and old players (F_2,118 = 3.723, P = .01).

Conclusions:

Clinicians evaluating overhead athletes need to remember that asymmetric scapular posture between the dominant and nondominant sides in unilateral overhead athletes might be normal and not necessarily related to injury.