6 research outputs found
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases
No full textTyrosinemia type III is an extremely rare autosomal recessive disease, with only 19 patients yet reported. It is caused by a deficiency of the 4-hydroxyphenylpyruvate dioxygenase enzyme, resulting from biallelic mutations in the HPD gene. Although the clinical spectrum of the disease is not fully known, most patients present with neurodevelopmental symptoms. We report on a 20-month-old patient who was investigated due to developmental delay and dysmorphic features. The girl had a novel splice-site mutation in the HPD gene and ventriculomegaly in cranial imaging, which was not previously associated with tyrosinemia type III. Our patient had mild subjective improvement in social skills and language development after dietary therapy was started and her tyrosine levels decreased. We also summarize clinical, biochemical, and genetic findings of previously published patients with biallelic HPD mutations
High prevalence of low bone mineral density in young adults with phenylketonuria
No full textBackground: It has been reported that phenylalanine (Phe)-restricted diets may have negative effects on bone health in patients with classical phenylketonuria (cPKU). We aimed to evaluate bone mineral density (BMD) in adults with cPKU and determine the risk factors associated with low BMD. Methods: Eighty adult patients with cPKU were examined, including 41 women and 39 men. The age range was 18.3-39.4 years (median 22.8). The femoral and lumbar BMD were measured by dual energy X-ray absorptiometry. The patients were evaluated in two groups with low (Z-score -2). Results: Low BMD was detected in 20 patients (25%). The low BMD group had significantly more males (75% vs 40%, p g/L respectively, p < 0.05). The groups did not differ significantly with regards to age, mean Phe levels at diagnosis, median Phe levels above the age of 12 years, other nutritional parameters or vitamin-mineral supplementation. There was no history of clinical fractures. Discussion: Although osteopenia, osteoporosis and low BMD have been reported in PKU, conflicting data also exist. Our study of a large adult cPKU cohort strongly supports previously published limited data that suggest male sex and low BMI confer a higher risk for low BMD in cPKU; and age, Phe levels and dietary adherence do not. In our study, although the patients were young, low BMD was quite common (25%). Bone health should be evaluated even in young adults with cPKU, especially in males and those with low BMI, regardless of treatment compliance and vitamin-mineral status. Prospective studies reporting on clinical outcomes such as bone pain or fractures will be valuable in the coming years
Neonatal Outcomes of Critical Congenital Heart Defects: A Multicenter Epidemiological Study of Turkish Neonatal Society: Neonatal Outcomes of CCHD
No full textCritical congenital heart disease (CCHD) is one of the leading causes of neonatal and infant mortality. We aimed to elucidate the epidemiology, spectrum, and outcome of neonatal CCHD in Turkiye. This was a multicenter epidemiological study of neonates with CCHD conducted from October 2021 to November 2022 at national tertiary health centers. Data from 488 neonatal CCHD patients from nine centers were entered into the Trials-Network online registry system during the study period. Transposition of great arteria was the most common neonatal CHD, accounting for 19.5% of all cases. Sixty-three (12.9%) patients had extra-cardiac congenital anomalies. A total of 325 patients underwent cardiac surgery. Aortic arch repair (29.5%), arterial switch (25.5%), and modified Blalock-Taussig shunt (13.2%). Overall, in-hospital mortality was 20.1% with postoperative mortality of 19.6%. Multivariate analysis showed that the need of prostaglandin E1 before intervention, higher VIS (> 17.5), the presence of major postoperative complications, and the need for early postoperative extracorporeal membrane oxygenation were the main risk factors for mortality. The mortality rate of CCHD in our country remains high, although it varies by health center. Further research needs to be conducted to determine long-term outcomes for this vulnerable population.Turkish Neonatal Society (TNS)This study was supported by the Turkish Neonatal Society (TNS), which funded the online registration system used by the study (https:// www. trials- netwo rk. org/). The TNS had no role in the study design, data analysis, decision to publish, or preparation of the article. The corresponding author had full access to all the data in the study and took final responsibility for the decision to submit the manuscript for publication. The final version of the manuscript was approved by all authors. No honorarium, grant, or other form of funding was provided to any author in connection with the study
Effects of age and anxiety on learning and memory
No full textThis study aims to investigate the effects of age and anxiety on behavior, learning and memory in rats. Before and after the anxiety and learning tests, locomotor activity, exploratory activity and autonomic functions of the rats were tested in open field area. At the beginning and at the end of behavior tests, urines were collected so as to determine 5-hydroxyrindolaceticacid (5-HIAA) levels. Following these tests, rats were anesthetized and their serum corticosteron (CORT) levels were analyzed. Behav Brain Res. 2008 Dec 16;195(1):147-52. doi: 10.1016/j.bbr.2008.05.023. Epub 2008 Jun 8. Effects of age and anxiety on learning and memory. Küçük A, Gölgeli A, Saraymen R, Koç N. Author information Dumlupinar University, Medicine Faculty, Physiology Department, Tavsanli Road 10.km, 43270 Kutahya, Turkey. [email protected] Abstract This study aims to investigate the effects of age and anxiety on behavior, learning and memory in rats. Before and after the anxiety and learning tests, locomotor activity, exploratory activity and autonomic functions of the rats were tested in open field area. At the beginning and at the end of behavior tests, urines were collected so as to determine 5-hydroxyindolaceticacid (5-HIAA) levels. Following these tests, rats were anesthetized and their serum corticosteron (CORT) levels were analyzed. After anxiety, except for defecation, all parameters in open field such as line crossing, rearing, sitting and number of grooming were decreased in both young and aged animals. 5-Hydroxyindolaceticacid levels were decreased and serum CORT levels were increased, it is supported that especially the aged rats were much more affected from anxiety compared to the young ones. Elevated T-maze results show that emotional learning did not change while conditioned performance was tested in the closed arm and unconditioned performance was tested in the open arm. Nevertheless, it is observed that aging leaded to extensions in avoidance responses and thus caused difficulty in learning. In water maze test, rats showed higher performance in reaching the platform in repetitive trials; this demonstrates that they have learned by environmental cues. Experimental group had not better performance in reaching the platform according to control group, so this supports that anxiety affects spatial learning. As a conclusion, it could be stated that especially in aged rats, anxiety that is created by elevated T-maze and cat odor and supported with 5-hydroxyindoleacetic acid and serum corticosterone, causes difficulty in emotional and spatial learning. </p
Galactosemia In The Turkish Population With A High Frequency Of Q188R Mutation And Distribution Of Duarte-1 And Duarte-2 Variations
No full textScopu
Is It a Changing Landscape?
No full textPublisher Copyright: © 2024 by the authors.Background: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age. Other studies have shown similar results across the globe. Different target blood Phe levels have been used throughout the years, and, in 2017, the European PKU guidelines defined new targets for blood Phe levels. This study aimed to evaluate blood Phe control in patients with PKU across Europe. Methods: nine centres managing PKU in Europe and Turkey participated. Data were collected retrospectively from medical and dietetic records between 2012 and 2018 on blood Phe levels, PKU severity, and medications. Results: A total of 1323 patients (age range:1–57, 51% male) participated. Patient numbers ranged from 59 to 320 in each centre. The most common phenotype was classical PKU (n = 625, 48%), followed by mild PKU (n = 357, 27%) and hyperphenylalaninemia (HPA) (n = 325, 25%). The mean percentage of blood Phe levels within the target range ranged from 65 ± 54% to 88 ± 49% for all centres. The percentage of Phe levels within the target range declined with increasing age (41 years; 43% in females vs. 28% in males; p < 0.001). Patients treated with sapropterin (n = 222) had statistically significantly lower Phe levels compared to diet-only-treated patients (mean 391 ± 334 μmol/L; percentage within target 84 ± 39% vs. 406 ± 334 μmol/L; 73 ± 41%; p < 0.001), although a blood Phe mean difference of 15 µmol/L may not be clinically relevant. An increased frequency of blood Phe monitoring was associated with better metabolic control (p < 0.05). The mean blood Phe (% Phe levels within target) from blood Phe samples collected weekly was 271 ± 204 μmol/L, (81 ± 33%); for once every 2 weeks, it was 376 ± 262 μmol/L, (78 ± 42%); for once every 4 weeks, it was 426 ± 282 μmol/L, (71 ± 50%); and less than monthly samples, it was 534 ± 468 μmol/L, (70 ± 58%). Conclusions: Overall, blood Phe control deteriorated with age. A higher frequency of blood sampling was associated with better blood Phe control with less variability. The severity of PKU and the available treatments and resources may impact the blood Phe control achieved by each treatment centre.publishersversionpublishe
