Serum Adropin Level in the Early Period of ST-Elevation Myocardial Infarction and Its Relationship With Cobalamin and Folic Acid.

BACKGROUND: Studies on biomarkers in the diagnosis of myocardial infarction are ongoing. Adropin is a biomarker that has been studied and has been shown to have different effects. This study aimed to examine the adropin level of patients with myocardial infarction within the first 24 hours, as well as its relationship with cobalamin and folic acid. MATERIAL AND METHODS: The control group included 70 patients whose troponin values did not increase and no coronary lesions were detected. In the ST-elevation myocardial infarction (STEMI) group, 70 patients with ST elevation on ECG and coronary total thrombosis on coronary angiography were evaluated. Coronary lesion severity was measured using the SYNergy between the percutaneous coronary intervention (PCI) with TAXUS and Cardiac Surgery (SYNTAX) score tool. Hemogram, troponin, adropin, C-reactive protein (CRP), cobalamin, folic acid, and other biochemical parameters were evaluated in all patients. RESULTS: In the STEMI group, a significant increase was observed in the adropin level along with the troponin and CRP levels in the first 24 hours (p<0.001). Cobalamin and folic acid levels were low in the same group (p:0.016, p<0.001). While a strong negative correlation was observed between adropin and cobalamin, no correlation was found with other parameters. CONCLUSION: The study supports that adropin could be used as a cardiac biomarker in the early stages of STEMI patients. Another result is with low cobalamin and folic acid levels in patients with myocardial infarction which needs to be further explained with the strong negative correlation between adropin and cobalamin.

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

BACKGROUND: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies. METHODS: We recruited 131 patients (108 males, 23 females) with ASD and macrocephaly between the ages of 3 and 18 from five child and adolescent psychiatry clinics in Turkey from July 2018 to December 2019. We defined macrocephaly as occipito-frontal HC size at or greater than 2 standard deviations (SD) above the mean for age and sex on standard growth charts. PTEN gene sequence analysis was performed using a MiSeq next generation sequencing (NGS) platform, (Illumina). CONCLUSION: PTEN gene sequence analyses identified three pathogenic/likely pathogenic mutations [NM_000314.6; p.(Pro204Leu), (p.Arg233*) and novel (p.Tyr176Cys*8)] and two variants of uncertain significance (VUS) [NM_000314.6; p.(Ala79Thr) and c.*10del]. We also report that patient with (p.Tyr176Cys*8) mutation has Grade 1 hepatosteatosis, a phenotype not previously described. This is the first PTEN prevalence study of patients with ASD and macrocephaly in Turkey and South Eastern Europe region with a largest homogenous cohort. The prevalence of PTEN mutations was found 3.8% (VUS included) or 2.29% (VUS omitted). We recommend testing for PTEN mutations in all patients with ASD and macrocephaly.

Effects of grapeseed extract on doxorubicin-induced cardiotoxicity in rats.

BACKGROUND: Doxorubicin (DX) is used for the treatment of many types of cancer; however, a side effect of this agent is cardiotoxicity, which may lead to cardiomyopathy or cardiac failure. Oxidative stress is thought to play a major role in the development of cardiotoxic effects. Proanthocyanidins found in grapeseed (GS) extract may inhibit chemically induced lipid peroxidation and apoptosis caused by oxidative stress. We aimed to investigate the cardioprotective effects of GS extract against DX-induced cardiotoxicity. METHODS: A total of 28 male Sprague Dawley rats were grouped to receive: (a) standard nutrition (n = 7); (b) standard nutrition with an additional dose of 10 mg/kg DX (n = 7); (c) standard nutrition plus 100 mg/kg/day of GS (n = 7); (d) standard nutrition with 100 mg/kg/day of GS plus a single dose of 10 mg/kg DX. After 35 days the rats were decapitated and blood samples were taken for biochemical testing. Cardiac tissue samples were prepared for microscopy and histopathological evaluation. RESULTS: Rats in the DX group exhibited significant elevations in biomarkers such as troponin and NT-proBNP as well as in oxidative stress markers compared with all other groups. Histopathological examination corroborated these findings by demonstrating significant and severe structural injury in the cardiac tissue of DX rates. Moreover, rats in the DX + GS group had significantly lower cardiac injury than rats in the DX group according to both biochemical (troponin and NT-proBNP) and histopathological analyses. Serum malondialdehyde levels (a marker of oxidative stress) in the DX + GS rats were significantly lower than in the DX rats. CONCLUSION: Our findings suggest that GS may reduce the severity of DX-induced cardiotoxicity and thus has the potential to prevent cardiac injury in this setting.

High Rates of Psychiatric Disorders and Below Normal Mental Capacity Associated With Spastic Peroneal Flatfoot: A New Relationship.

Spastic peroneal flatfoot (SPFF) is a rare hindfoot pathology usually seen in the adolescent age group that is characterized by painful spasms in the peroneal muscles. We have clinically observed that patients with SPFF also have some behavioral and emotional difficulties and problems in their academic achievements. Because of these observations, we investigated the prevalence and patterns of psychiatric disorders and intellectual disability among young subjects with SPFF. Our cohort consisted of 16 patients with SPFF. Their mean age at presentation was 21 (range 13 to 31) years. Only 6 patients had a tarsal coalition as an underlying condition. The psychometric evaluation was conducted using validated instruments (Wechsler Intelligence Scale for Children-revised form, Stanford Binet intelligence quotient [IQ] test, and Cattell IQ test). Psychiatric disorders were assessed using a semistructured diagnostic instrument (Schedule for Affective Disorders and Schizophrenia for School Age Children Present and Lifetime Version). The testers and psychiatrists were unaware of the orthopedic condition and the preliminary psychiatric diagnoses. The ethical committee approved the study protocol. The mean follow-up period was 41 (range 12 to 97) months. The mean IQ score of the patients was 75.1 ± 17.9 (range 52 to 107). Compared with the general population, the rate of intellectual disability was significantly greater (p = .0001) and the rate of normal intelligence significantly lower (p = .0015) in our patient group. Furthermore, according to the community schooling ratio, our cohort also had lower junior high and secondary education rates compared with the general population. The rate of most psychiatric disorders diagnosed in the SPFF patients was greater than that in the normal population. The most commonly identified psychiatric disorders were social phobia and attention deficit and hyperactivity disorder (75%). Timely interventions of the psychosocial and academic problems of patients with SPFF might increase their compliance with orthopedic treatment and help with their psychological well-being and academic achievement. In addition, this relationship might be a clue for uncovering the etiology of this disease, which has not yet been clarified.