Serum cardiac enzyme elevation after percutaneous coronary intervention (PCI), a relatively common complication, is a prognostic determinant of long-term outcome in patients who undergo these procedures. Statins are postulated to reduce such complications. This study investigated the short-term effects of pravastatin on serum creatine kinase myocardial isoform (CK-MB) and serum cardiac troponin I (cTpI) levels after elective PCI. Of 93 patients studied, 72 (77.4%) were men, and 21 (22.6%) were women (mean age, 58.9+/-11.0 y). Patients were randomly divided into 3 groups before they underwent elective PCI. Preoperatively, group 1 patients (n=30) received pravastatin 10 mg/d, and group 2 patients (n=29) received pravastatin 40 mg/d. Control group patients (n=34) received no lipid-lowering medication. Serum CK-MB and serum cTpI levels were measured preoperatively and then again at 6, 24, and 36 h postoperatively. Demographic features of patients and characteristics of the PCI procedure, including number of vessels/lesions and duration and number of inflations, did not differ among groups (P>.05). Mean serum CK-MB and serum cTpI levels were significantly increased after PCI in all patients (P<.001). When compared with control group patients, those given pravastatin did not experience significantly lowered postprocedural serum CK-MB or serum cTpI levels (P>.05). Preprocedural pravastatin therapy at dosages of 10 mg/d and 40 mg/d seems inadequate for preventing serum cardiac enzyme elevations during short-term follow-up after PCI. Additional research on this topic is recommended.

Filippi syndrome (MIM #272440), one of the craniodigital syndromes, is a rare genetic entity with autosomal recessive inheritance and characterized by pre‐ and postnatal growth retardation, microcephaly, distinctive facial appearance, developmental delay/intellectual disability, and variable syndactylies of the fingers and toes. In this report, a further female patient of Filippi syndrome who additionally had a unilateral congenital talipes equinovarus (CTEV), a feature not previously recorded, is described. Genetic testing revealed a novel homozygous frameshift pathogenic variant (c.552_555delCAAA, p.Asn184Lysfs*8) in CKAP2L and thus confirmed the diagnosis of Filippi syndrome. We hope that the newly recognized feature (CTEV) will contribute to expand the clinical spectrum of this extremely rare condition. In view of the paucity of reported cases, the full spectrum of clinical findings of Filippi syndrome necessitates obviously further affected individuals/pedigrees delineation in order to elucidate the etiological and phenotypic aspects of this orphan disease appropriately.

ÖZETAmaç: Perkütan koroner girişim (PKG) sonrası hem lokal, hem de sistemik bir enflamatuvar yanıt meydana gelmektedir. Statinler lipit düşürücü etkilerinin yanında iyi tanımlanmış antienflamatuvar etkilere de sahiptirler. Bu çalışmada pravastatin tedavisinin elektif PKG yapılan hastalarda işlem sonrası serum C-reaktif protein (CRP) ve neopterin düzeyine olan etkisinin değerlendirilmesi amaçlanmıştır. Yöntemler: Bu prospektif, randomize çalışmaya elektif PKG planlanan 93 hasta dahil edildi. Grup 1'e (n=30) pravastatin 10mg/gün, Grup 2'ye (n=29) 40 mg/gün başlandı; Grup 3 (n=34) kontrol grubu alındı ve bu gruba lipit düşürücü tedavi verilmedi. Hastalardan işlem öncesi, işlemden sonra kan örnekleri alınarak serum CRP ve neopterin düzeyleri çalışıldı. Devamlı değişkenlerin gruplar arası karşılaştırılması ANOVA ve KruskalWallis testi ile yapıldı. Devamlı olmayan değişkenler ise Ki-kare testi ile değerlendirildi. Bulgular: Hastaların demografik özellikleri ve PKG ile ilişkili verileri (işlem yapılan damar sayısı, balon şişirme sayısı ve süresi) gruplar arasında benzer idi (p>0.05). Serum CRP ve neopterin düzeylerinde işlemden sonra anlamlı artış saptandı (p<0.001). İşlem öncesi ve sonrası ortalama serum neopterin düzeyleri gruplar arasında şu şekilde idi: Grup 1: 13.3±5.9 ve 22.8±15.4 nmol/L; Grup 2: 16.9±10.2 ve 22.0±14.9 nmol/L; kontrol grubu: 15.2±11.9 ve 18.8±11.5nmol/L. İşlem öncesi başlanan pravastatin tedavisinin bu enflamasyon parametrelerine anlamlı bir etkisi saptanmadı (F=0.5, p=0.6). Sonuç: Perkütan koroner girişim (PKG) belirgin bir enflamatuvar yanıta yol açmaktadır. İşlem öncesi 2 farklı dozda başlanan pravastatin tedavisinin kısa süreli izlemde bu inflamatuvar yanıtı baskılamada yetersiz kaldığı görülmüştür. Bu konunun daha iyi aydınlatılabilmesi için ileri çalış-malara ihtiyaç vardır. (Anadolu Kardiyol Derg 2011; 11: 207-12) Anahtar kelimeler: Statin, C-reaktif protein, neopterin, perkütan koroner girişim ABSTRACT Objective: Percutaneous coronary intervention (PCI) is known to induce both local and systemic inflammatory states. In addition to lowering lipid levels, statins exert well-proven anti-inflammatory effects. We investigated the effects of pravastatin on serum C-reactive protein (CRP) and neopterin levels in the short term after elective PCI. Methods: In this randomized prospective study, 93 patients undergoing elective PCI were enrolled. Group 1 (n=30) received pravastatin at a dose of 10 mg/day, Group 2 (n=29) was given 40 mg/day, and Group 3 (n=34) served as the control group and received no lipid-lowering drugs. Blood samples were drawn before and after PCI to measure serum CRP and neopterin levels. Differences among the groups for continuous variables were evaluated by the ANOVA and the Kruskal-Wallis test as appropriate. The Chi-square test was used for comparison of categorical variables. Results: Demographic features and the characteristics of the PCI, including the number of vessels and lesions and the duration and number of inflations, did not differ among groups (p>0.05). Serum CRP...

BACKGROUND Celiac disease (CD) is a multifactorial disease, but genetic factors play a major role in its etiology. It has been known that human leucocyte antigen (HLA)-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors. The risk of developing CD in first-degree relatives and especially siblings of celiac patients is quite high because of having the same HLA haplotypes. AIM To evaluate the frequency of CD and the distribution of the HLA-DQ2/DQ8 haplotypes in siblings of celiac patients. METHODS Patients with biopsy-proven CD and their siblings were included in the study; those who did not have HLA genotyping were excluded from the study. All siblings were on a gluten-containing diet. The HLA genotyping, tissue transglutaminase antibody IgA antibody test, and total IgA test were performed in all participants. RESULTS A total of 57 celiac patients and their 112 siblings were included in the study. The mean age of celiac patients and siblings were 10.30 ± 3.87 years and 9.90 ± 6.11 years, respectively. HLA-DQ2/DQ8 alleles were detected in 98.2% of patients with CD and 90.2% of siblings of celiac patients. HLA-DQ genotypes were present in all siblings diagnosed with CD. Tissue transglutaminase antibody IgA test was found to be positive in 16 siblings. CD was diagnosed in 12 siblings (10.7%) by intestinal biopsy. CONCLUSION The prevalence of CD was found to be 10.7% in siblings of celiac patients in our study. One-third of the siblings diagnosed with CD were asymptomatic. We detected HLA-DQ alleles in 98.2% of celiac patients and 100% in siblings diagnosed with CD. In addition, 1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later. Therefore, we suggest that siblings of celiac patients should be followed up with clinical findings as well as HLA analysis and serological examination. Since the risk of developing CD is much higher in asymptomatic siblings, we recommend that siblings should be screened for CD even if they are asymptomatic.

No abstract

No abstract

The study aimed to show the chromosomal copy number variations responsible for the aetiology in patients with isolated conotruncal heart anomaly by array comparative genomic hybridisation and identify candidate genes causing conotruncal heart disease. A total of 37 patients, 17 male, and 20 female, with isolated conotruncal heart anomalies, were included in the study. No findings indicated any syndrome in terms of dysmorphology in the patients. Results: Copy number variations were detected in the array comparative genomic hybridisation analysis of five (13.5%) of 37 patients included in the study. Three candidate genes (PRDM16, HIST1H1E, GJA5) found in these deletion and duplication regions may be associated with the conotruncal cardiac anomaly. Conclusion: CHDs can be encountered as the first and sometimes the single finding of many genetic disorders in children. It is thought that genetic tests, especially array comparative genomic hybridisation, may be beneficial for children with CHD since the diagnosis of genetic diseases in these patients as early as possible will help to prevent or reduce complications that may develop in the future. Also, it would be possible to detect candidate genes responsible for conotruncal cardiac anomalies with array comparative genomic hybridisation.

Mosaic trisomy 9 syndrome is a rare chromosomal abnormality and is well defined with dysmorphologic features such as upslanting and short palpebral fissures; deeply set eyes; micrognathia; and cardiovascular, genital, and brain abnormalities. Holoprosencephaly, a developmental brain abnormality, is a rarely seen in patients with mosaic trisomy 9 syndrome. Here we present a case of a patient with mosaic trisomy 9 syndrome with alobar type holoprosencephaly who died in the first hour of the natal period. As per the literature, this is the third case of mosaic trisomy 9 with holoprosencephaly to be reported. Therefore, we believe that holoprosencephaly might take part among the classic dysmorphic features of mosaic trisomy 9 syndrome.