When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center

Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency syndromes, glycine encephalopathy, cerebral folate deficiency, neonatal vitamin-responsive epileptic encephalopathies, disorders of monoamine metabolism, and y-amino butyric acid (GABA) metabolism. We retrospectively analyzed and compared the demographic, clinical, laboratory, and neuroimaging features of 62 patients in whom CSF examination was performed. Of the 62 patients, 16 (25.8%) had a final diagnosis, including succinic semialdehyde dehydrogenase (SSADH) deficiency (n=4), aromatic amino acid decarboxylase (AADC) deficiency (n=4), L-dopa-responsive dystonia (n=3), glycine encephalopathy (n=2), pyridoxal-phosphate-dependent seizures (n=l), cerebral folate deficiency (n=1), and serine biosynthesi defect (n=1). Parental consanguinity was present in all patients except one Positive yield of a diagnostic lumbar puncture (LP) for the diagnosis of inherited neurotransmitter metabolism disorder was 25.8% overall. Oculogyric crisis (50%), diurnal variation (81.8%) and consanguinity (93.8%) were the only statistically significant variables between patients with and without a specific diagnosis. It is challenging to diagnose neurotransmitter defects, since there is no ideal set of clinical symptoms. In our cohort, consanguinity, diurnal variation and abnormal ocular movements were the most significant findings associated with a diagnosis of a specific neurometabolic disorder based on CSF examination. Early diagnosis is of great importance not only for specific treatment, but also for genetic counseling and prenatal diagnosis.     

Self-face recognition and theory of mind in patients with schizophrenia and first-degree relatives

OBJECTIVE: The hypothesized relationship between theory of mind (ToM) and self-face recognition as well as its potential genetic associations has not been previously explored in patients with schizophrenia and in first-degree relatives with schizotypal personality traits. METHOD: Ten patients diagnosed with schizophrenia, 10 of their first-degree relatives and 10 healthy controls were included. To assess self-face recognition (SFR), participants were presented images of faces of themselves and others and asked to make rapid 'unfamiliar', 'familiar' and 'self' judgments. As a measure of ToM, subjects were administered the Revised Mind in the Eyes Test (MET [Baron-Cohen, S., Wheelwright, S., Hill, J., Raste, Y., and Plumb, I., 2001. The "Reading the Mind in the Eyes" Test revised version: a study with normal adults, and adults with Asperger syndrome or high-functioning autism. J Child Psychol Psychiatry 42(2), 241-251.]). Schizotypal characteristics in relatives and controls were assessed using a modified version of the Schizotypal Personality Questionnaire (SPQ [Raine, A., 1991. The SPQ: a scale for the assessment of schizotypal personality based on DSM-III-R criteria. Schizophrenia Bulletin 17(4), 555-564.]). RESULTS: Patients took longer and were less accurate on the SFR task than their relatives who in turn performed worse than healthy controls. Specific ToM deficits in schizophrenia were replicated. There was a relationship between accuracy rates on the MET and SFR tasks. High levels of schizotypal traits such as social anxiety, constricted affect and no close friends were important for both tasks. CONCLUSIONS: Face recognition deficits and ToM deficits in schizophrenia are apparent. The critical influence of high levels of select schizotypal traits is also highlighted. A deficit in relatives of schizophrenia patients raises the possibility that ToM and face recognition deficits may be candidate endophenotypes for schizophrenia. Support for the hypothesized link between ToM and face recognition is provided.     

Effects of Boron-Based Gel on Radiation-Induced Dermatitis in Breast Cancer: A Double-Blind,Placebo-Controlled Trial

Aim: This study is aimed to evaluate the effects of boron on radiation-induced skin reactions (RISR) in breast cancer patients. Material and methods: After 47 patients with invasive ductal carcinoma underwent radiotherapy, 23 (49%) received a boron-based gel, and 24 (51%) received placebo. Assessments were performed according to the Radiation Therapy Oncology Group (RTOG) skin scale and a Five-Point Horizontal Scale (FPHS). Results: At the end of the fifth week of radiotherapy, the RTOG scores in the boron group were significantly lower than those in the placebo group (p = .024). The FPHS score was higher in the placebo group than in the boron group, and this difference was not statistically significant (p = .079). Conclusion: Using the RTOG scoring system, we revealed that the application of a boron-based gel diminished RISR. The mechanism of action is unclear but may be related to antioxidant, wound healing, and thermal degradation effects of boron.     

The Effects of Self–Pain Management on the Intensity of Pain and Pain Management Methods in Arthritic Patients

The aims of this study were to investigate the effects of pain management education on the intensity of pain and frequency of utilization of pain management methods in two groups of patients with arthritis of different pathogenesis and clinical features, and to compare whether a significant difference existed between the two groups. The study was carried out between September 2007 and June 2008 on 30 female patients with gonarthrosis and 30 female patients with rheumatoid arthritis (RA) followed at the rheumatology outpatient clinic of a university hospital. Data on sociodemographic characteristics and those related with the illness were collected using a special survey. Each patient was given information about the features, causes, and treatment of the arthritis and how to cope with pain, emphasizing the importance of pain management methods. The intensity of pain and efficacy of pain management methods were assessed using the McGill Pain Questionnaire and the Pain Management Inventory at baseline and the second and sixth weeks after the education. The SPSS (v15.0) statistical package was used for statistical analysis. After education, significant improvements in pain intensity scores compared with baseline scores were observed in both groups (p < .05), and there was no significant difference between the RA and gonarthrosis groups. Among the various pain management methods, the education program led to significantly more utilization of massaging the painful area, exercising, and using complementary methods to control stress in both groups of patients, and there was no significant difference between the groups. In conclusion, the pain management education given in this study alleviated the intensity of pain and significantly increased the use of some pain management methods in both gonarthrosis and RA cases.     

Idarubicin-loaded folic acid conjugated magnetic nanoparticles as a targetable drug delivery system for breast cancer

Conventional cancer chemotherapies cannot differentiate between healthy and cancer cells, and lead to severe side effects and systemic toxicity. Another major problem is the drug resistance development before or during the treatment. In the last decades, different kinds of controlled drug delivery systems have been developed to overcome these shortcomings. The studies aim targeted drug delivery to tumor site. Magnetic nanoparticles (MNP) are potentially important in cancer treatment since they can be targeted to tumor site by an externally applied magnetic field. In this study, MNPs were synthesized, covered with biocompatible polyethylene glycol (PEG) and conjugated with folic acid. Then, anti-cancer drug idarubicin was loaded onto the nanoparticles. Shape, size, crystal and chemical structures, and magnetic properties of synthesized nanoparticles were characterized. The characterization of synthesized nanoparticles was performed by dynamic light scattering (DLS), Fourier transform–infrared spectroscopy (FT–IR), transmission electron microscopy (TEM), scanning electron microscopy (SEM) analyses. Internalization and accumulation of MNPs in MCF-7 cells were illustrated by light and confocal microscopy. Empty MNPs did not have any toxicity in the concentration ranges of 0–500 μg/mL on MCF-7 cells, while drug-loaded nanoparticles led to significant toxicity in a concentration-dependent manner. Besides, idarubicin-loaded MNPs exhibited higher toxicity compared to free idarubicin. The results are promising for improvement in cancer chemotherapy.     

Neural correlates of moral reasoning in autism spectrum disorder

In our study, we tried to clarify whether patients with autism spectrum disorder (ASD) reveal different moral decision patterns as compared to healthy subjects and whether common social interaction difficulties in ASD are reflected in altered brain activation during different aspects of moral reasoning. 28 patients with high-functioning ASD and 28 healthy subjects matched for gender, age and education took part in an event-related functional magnetic resonance imaging study. Participants were confronted with textual dilemma situations followed by proposed solutions to which they could agree or disagree. On a neural level, moral decision making was associated with activation in anterior medial prefrontal regions, the temporo-parietal junction and the precuneus for both groups. However, while patients and healthy controls did not exhibit significant behavioral differences, ASD patients showed decreased activation in limbic regions, particularly the amygdala, as well as increased activation in the anterior and the posterior cingulate gyrus during moral reasoning. Alterations of brain activation in patients might thus indicate specific impairments in empathy. However, activation increases in brain regions associated with the ‘default mode network’ and self-referential cognition also provide evidence for an altered way of patients’ cerebral processing with regard to decision making based on social information.     

The effect of autonomous neuropathy on bowel preparation in type 2 diabetes mellitus

Introduction  

The need for colonoscopy is common among diabetics. In this study, we aimed to evaluate the effect of autonomous neuropathy on bowel preparation in type 2 diabetes mellitus (DM) patients.     

Hypoxic-ischemic encephalopathy: correlation of serial MRI and outcome

Twenty-four patients with hypoxic-ischemic encephalopathy were examined with serial magnetic resonance imaging up to 4 years of age. Magnetic resonance imaging studies were performed in the neonatal period, at the fourth month and the fourth year of age, and the findings were compared with the patients' neurodevelopmental outcome at the fourth year of age. Periventricular signal alterations and deep gray matter involvement were usually evident in the initial magnetic resonance imaging studies, and encephalomalacia, periventricular leukomalacia, and atrophy were the common findings on follow-up magnetic resonance imaging studies. In the patients with hypoxic-ischemic encephalopathy, some correlation between magnetic resonance imaging findings and neurodevelopmental outcome was recognized. The patients with deep gray matter involvement on the initial magnetic resonance imaging had a poor prognosis, and the ones with normal magnetic resonance imaging findings had a favorable neurodevelopmental outcome. On the follow-up magnetic resonance imaging findings, encephalomalacia and periventricular leukomalacia were associated with poor neurodevelopmental outcome. In predicting the neurologic outcome at 4 years of age, magnetic resonance imaging findings of the neonatal period had the highest negative predictive value, whereas magnetic resonance imaging findings at 4 months of age and 4 years of age had the highest positive predictive value.     

Fluoride levels in various black tea,herbal and fruit infusions consumed in Turkey

The fluoride contents were determined by ion-selective electrode in 26 black tea samples originally produced in Turkey, Sri Lanka, India and Kenya, and in 14 herbal and seven fruit infusions originated from Turkey. Fluoride content in black tea infusions ranged from 0.57 to 3.72 mg/L after 5 min of brewing. Higher fluoride levels were found in black teas originated from Turkey when compared with teas originated from Sri Lanka. Moreover higher fluoride levels were determined in black tea bags compared with granular and stick-shaped black teas. However, herbal and fruit infusions were characterized by low values of fluoride (0.02–0.04 mg/L) after 5 min of brewing and increasing brewing time to 10 min caused only slight increases in some infusions. As a result, consuming tea infusions prepared from some black tea available in Turkish market, especially black tea bags, in large quantities may lead to exposion to a high amount of fluoride which may cause dental fluorosis. Although fruit and herbal infusions are safer to consume their fluoride contents are too low for caries prevention. In countries such as Turkey where tea is traditionally consumed, the fluoride concentration and daily safety precautions should be indicated on tea products.