Carlsenconnolly5093
2%). Anxiety level was significantly higher in females.
These data suggest that food security is an important issue of concern in PKU patients. In line with the changing world after the pandemic, different strategies should be considered in the management of patients with inborn errors of metabolism, including PKU.
These data suggest that food security is an important issue of concern in PKU patients. In line with the changing world after the pandemic, different strategies should be considered in the management of patients with inborn errors of metabolism, including PKU.
Autism Spectrum Disorders (ASD) may present with a delay in social and communication development, or less frequently, with regression in social and language skills. The reasons for this difference in clinical presentation are unknown, and the regressive symptoms in the second group suggest an acquired process.
We investigated serum autoantibodies in these two types of ASD in a cross-sectional design in a total of 50 children, 24 with autistic regression and 26 with classical ASD according to the DSM-5 criteria. Clinical assessment by the Childhood Autism Rating Scale (CARS) and Ankara Developmental Screening Test (ADST), parental questionnaires consisting of the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AuBC) were completed. Serum samples were tested for anti-neuronal antibodies including anti-N-methyl-Daspartate receptor (NMDAR), anti-contactin-associated protein (CASPR2), anti-leucine rich glioma inactivated 1 (LG1), anti-glutamate type 2-amino-3-propionic Acid (AMPA) 1-2, anti-gamma amino butyric acid (GABA) B, anti-dipeptidyl aminopeptidase-like protein 6 (DPPX) and anti-glutamic acid decarboxylase 65(GAD).
Serum anti-GAD antibodies were at detectable levels in five (20.8%) patients with autistic regression, of whom three had 2 to 4-fold increased titers, and in none of the patients with classical ASD. The age of the father at the patient`s birth and the duration of autistic regression correlated with anti-GAD IgG levels (P 0,045, P 0.855 respectively) in the ASD-regression group. No other antibodies were detected in either group.
Our results do not suggest a causative role of anti-neuronal antibodies, but the possibility of an autoimmune process accompanying regressive symptoms in a small subgroup of ASD.
Our results do not suggest a causative role of anti-neuronal antibodies, but the possibility of an autoimmune process accompanying regressive symptoms in a small subgroup of ASD.
There is increased awareness regarding the co-occurrence of autism spectrum disorder (ASD) and inherited metabolic disorders (IMD), and this is crucial for the management of both diagnoses in clinical practice. We aimed firstly to report twenty-two patients with a dual diagnosis of IMD and ASD who are still being followed up in the child metabolism outpatient clinic; secondly to evaluate the time of both IMD and ASD diagnosis and the clinical progress of their metabolic disorders to underline treatable conditions.
Among the patients admitted to the Pediatric Metabolism outpatient clinic because of IMD, twentytwo of them who had a diagnosis of ASD were included in the study. Data of the patients were collected from their medical records. The most recent progress of the patients concerning their metabolic disorder was obtained from the patients` files.
Six cases with Phenylketonuria, 2 cases with partial Biotinidase Deficiency, 3 cases with Cerebral Creatine Deficiency Syndrome (CCDS), 5 cases with Mucopolysaccharidosis (MPS) Type-3b, 2 cases with MPS Type-3a, 1 case with MPS Type 4, 2 cases with Hypervalinemia and 1 case with Maple Syrup Urine Disease were all diagnosed as also having ASD. The diagnoses of CCDS and MPS Type 3 were after the diagnosis of ASD. Phenylketonuria and Mucopolysaccharidosis were the most common diagnoses in our study. In addition, rare entities such as MPS Type 3b and Type 4 and Hypervalinemia were also reported to co-occur with autism.
Considering the co-occurrence of both disorders and implementing intervention strategies accordingly will certainly be beneficial in clinical practice and particularly in countries with a high rate of consanguinity.
Considering the co-occurrence of both disorders and implementing intervention strategies accordingly will certainly be beneficial in clinical practice and particularly in countries with a high rate of consanguinity.
Programmed death 1 (PD-1) is a co-receptor which is located at the surface of cells like natural killer, monocytes, T and B cells. It has two ligands including programmed death ligand-1 (PD-L1) and ligand-2 (PD-L2). T cell functions are inhibited by activation of PD-1/PD-L1 pathway and this pathway is used by viruses and some tumor cells in order to escape from immune eradication. CDK inhibitor In our study we evaluated PD-L1 expression in the tissue specimens of patients with Wilms tumor, neuroblastoma and other renal tumors.
Totally 60 patients who were followed up at Gazi University Hospital with the diagnosis of neuroblastoma, Wilms tumor and other renal tumors were included. PD-L1 expression was examined in tumor samples of the patients.
Positive staining with PD-L1 was detected only in two male patients. Both of them had neuroblastoma and advanced stage disease. None of the patients with Wilms tumor and other renal tumors had positive PD-L1 staining.
Unlike adult tumors, PD-L1 expression is not common in childhood tumors due to differences in immune system between children and adults. Further studies are needed to establish the importance and effects of PD-1/PD-L1 pathway in pediatric tumors.
Unlike adult tumors, PD-L1 expression is not common in childhood tumors due to differences in immune system between children and adults. Further studies are needed to establish the importance and effects of PD-1/PD-L1 pathway in pediatric tumors.
In our previous published study conducted in 2006 before the national tobacco control program (NTCP), we found that working adolescents (WA) more frequently consumed cigarettes than high school students (HSS). The objective of the present study was to compare the smoking status of WA and HSS before and after the NTCP.
A questionnaire including questions about the participant`s socio-economic level and smoking status was administered.
There were 668 subjects in the 2006 study and 869 subjects in the 2015 study. When we compared the 2015 results with the 2006 study, while there was a significant decline in the ever smokers (p < 0.001), there was no difference in current smokers in both the female and male WA groups. In the HSS group, there was a significant decline in ever smokers (p < 0.01), for both females and males. While there was a significant decline in current female smokers (p=0,002), no significant decrease was found in current male smokers (p > 0.05) in the HSS group.
After the initiation of the NTCP, we have not seen a reduction in the smoking rates of both female and male WA and male HSS. The NTCP should particularly focus on the adolescent group in Turkey.
After the initiation of the NTCP, we have not seen a reduction in the smoking rates of both female and male WA and male HSS. The NTCP should particularly focus on the adolescent group in Turkey.
Neuropsychiatric lupus (NPSLE) serves as a marker of severe disease in children with juvenile onset systemic lupus erythematosus (JSLE). This study aims to characterise the clinical and imaging features at diagnosis; and outcomes after 12 months in Malaysian children with NPSLE.
A retrospective study of all NPSLE patients seen at the Pediatric Rheumatology Unit, Selayang Hospital from January 2004 to May 2017.
Twenty-eight (19.8%) of 141 JSLE patients had NPSLE with a median presenting age of 10 years (IQR 9 - 12), median follow-up of 7 years (IQR 4 - 11) and female male ratio of 3.71. Twenty-three patients had single episodes of NPSLE and five patients had two distinct episodes each. The mean disease activity score (SLEDAI- 2K) was 24.9±11.8 at presentation with 81.8% having high disease activity (score > 12). Majority (60.6%) present with NPSLE within the first year of SLE diagnosis whilst the remainder occurred at a median of five years (IQR 3-7) post-SLE diagnosis. Majority (75.8%) had central neand non-specific MRI features. With early diagnosis and treatment, the majority had good prognosis.
Juvenile-onset NPSLE presents with a myriad of clinical features. It is associated with high disease activity and non-specific MRI features. With early diagnosis and treatment, the majority had good prognosis.
Although the ketogenic diet (KD) is a well-established non-pharmacologic treatment for intractable epilepsy in pediatric patients, it is still perceived as theoretical information contained within textbooks rather than implementation in daily clinical practice. The aim of the present study was to primarily determine KD implementation frequency in daily clinical practice, the number of pediatric patients with intractable epilepsy, the conditions that hindered or facilitated KD implementation, and to provide a roadmap to improve patient outcomes.
A total of 27 pediatric neurologists, who were experienced in intractable epileptic pediatric patients and the implementation of KDs, responded to a 24-question survey. The survey was structured to outline patient selection criteria for KDs, prevalent treatment approaches in daily clinical practice for intractable epilepsy, level of physician awareness and impediments in KD implementation.
Intractable epilepsy was diagnosed predominantly in children within the 7 structured therapy implementation in pediatric patients, who suffer from inadequate treatment.
The panoramic view of KDs in Turkey indicates that a National Guideline would increase both physician awareness level for KD, and the rate of structured therapy implementation in pediatric patients, who suffer from inadequate treatment.
The T lymphocyte subset levels are an indicator used to evaluate the immune status of the body. In recent years, many studies have investigated the correlation between T lymphocyte subset levels and postoperative infection.
To investigate the incidence of infection after liver cancer interventional therapy and its influence on T lymphocyte subset levels and toll-like receptors (TLRs).
A total of 325 patients with primary liver cancer receiving interventional therapy were divided into an infection group (n = 37) and a non-infection group (n = 288). The infection site and the distribution of pathogenic bacteria in the infection group were observed. The serum T lymphocyte subset level and TLR2 and TLR4 levels in peripheral blood mononuclear cells were compared. The clinical value of the postoperative TLR2 and TLR4 levels in evaluating infection was analyzed using receiver operating characteristic (ROC) curves.
Among 51 strains of pathogens isolated from the infected patients, strains of Escherichia coli in patients after liver cancer interventional therapy, and the main infection sites are the lung and abdomen. The infected patients show changes in T lymphocyte level and decreased immune function. The TLR2 and TLR4 can be used as auxiliary indicators to evaluate infection after surgery.