Neurological Presentations in Patients with COVID-19 in Cytokine Storm.

BACKGROUND: Coronavirus disease 2019 (COVID-19) infection causes a wide variety of neurological disorders by affecting both central and peripheral nervous systems. The cytokine storm (CS) has been blamed for the development of severe neurological disorders in COVID-19. However, the relationship between COVID-19 CS and neurological manifestations has not been adequately studied. Thus, we aimed to investigate the neurological presentations in patients with COVID-19 CS. METHODS: The study population consisted of hospitalized moderate-to-severe COVID-19 patients. It was divided into two groups CS (36 patients, 29.3%) and non-CS (87 patients, 70.7%) based on significant clinical symptoms, elevated inflammatory marker levels, radiological findings, and interleukin-6 levels (IL-6). RESULTS: The three most common neurological symptoms in the CS group were altered level of consciousness, headache, and unsteadiness. Altered level of consciousness was higher in the CS group (69.4%) than the non-CS group (25.3%) (p:0.001). The frequency of headache was comparable in both groups (p:0.186). The number of patients requiring intensive care unit and intubation was higher in the CS group (p:0.005 and p:0.001). The mortality rate in the CS group (38.9%) was higher than the non-CS group (8.0%) (p:0.001). IL-6, CRP, ferritin, neutrophil-lymphocyte ratio, procalcitonin, and D-dimer levels were higher in the CS group (for all p:0.001) while lymphocyte count was lower (p:0.003). CONCLUSION: The most common neurological presentation in patients with CS was altered level of consciousness. The presence of CS was an independent risk factor for high mortality.

Reply to correspondence "Contributing factors towards progression of migraines during the Covid-19 pandemic".

We read Shafeeq Ahmed's letter about our recent article with interest. Stress is one of the most well-known migraine triggers. Early studies have already revealed that stress significantly affects migraine clinical course during the COVID-19 pandemic. Therefore, we also took into account the stress factor in our study. We tried to assess the influence of the COVID-19 pandemic on the psychological state of our patients using the Beck Depression Inventory and the Beck Anxiety Inventory. Due to the COVID-19 pandemic, personal protective equipment and disinfectants have been used so widely and intensively for the first time. Thus, we thought that evaluating the effect of the COVID-19 pandemic on migraine only through stress would be an inadequate approach. Our study demonstrated that in addition to stress, mask types, number of masks, duration of mask use, and disinfectant exposure might affect migraine attacks. Taking these factors into account, treatment and preventative methods may improve migraine sufferers' quality of life.

[Neurological disorders in liver transplantation].

Background and purpose: Liver transplantation is the only curative treatment in patients with end-stage liver failure. It has been associated with neurological disorders more frequently than other solid organ transplantations. We aimed to detect neurological disorders in liver transplantation patients and determine those that affect mortality. Methods: One hundred eighty-five patients, 105 with and 80 without neurological disorders, were included in this study. The follow-up was categorized into three periods: preoperative, early postoperative and late postoperative. We analyzed all medical records, including demographic, laboratory, radiological, and clinical data. Results: Neurological disorders were observed in 52 (28.1%) patients in the preoperative period, in 45 (24.3%) in the early postoperative, and in 42 (22.7%) in the late postoperative period. Hepatic encephalopathy in the preoperative and altered mental state in the post-operative period were the most common neurological disorders. Both hepatic encephalopathy (37.5%) and altered mental state (57.7%) caused high mortality (p=0.019 and 0.001) and were determined as indepen-dent risk factors for mortality. Living donor transplantation caused less frequent mental deterioration (p=0.049). The mortality rate (53.8%) was high in patients with seizures (p=0.019). While mortality was 28.6% in Wilson's disease patients with neurological disorders, no death was observed in patients without neurological disorders. Conclusion: We identified a wide variety of neurological disorders in liver transplantation patients. We also demonstrated that serious neurological disorders, including hepatic encephalopathy and seizures, are associated with high morbidity and mortality. Therefore, in order to avoid poor outcomes, hepatic encephalopathy should be considered as a prioritization criterion for liver transplantation.

Sarcopenia in patients with multiple sclerosis.

BACKGROUND: Multiple sclerosis (MS) is an autoimmune neurodegenerative disease of the central nervous system. Sarcopenia, which is characterized by the loss of physical performance and poor outcomes, has recently become the focus of research. However, the relationship between sarcopenia and MS has not yet been investigated. This study aims to determine the prevalence of sarcopenia in MS patients and investigate the factors associated with sarcopenia. METHODS: One hundred and one MS patients who can walk without assistance and 55 healthy controls were included. Handgrip strength (HGS) and gait speed tests were applied to all participants. Additionally, anterior thigh muscle thickness (anterior TMT) and skeletal muscle mass index (SSMI) were estimated by ultrasound and bioelectrical impedance analysis (BIA), respectively. According to these tests, MS patients were grouped as either sarcopenic or non-sarcopenic. The groups were compared using clinical and laboratory data, handgrip strength and performance test, Modified Fatigue Impact Scale (MFIS), and the Godin leisure-time exercise questionnaire (GLTEQ). RESULTS: HGS, gait speed, fat free mass (FFM), SMMI, anterior TMT, and sonographic thigh adjustment ratio (STAR) values in patients with MS were significantly lower than healthy controls for both sexes (for female, p:0.001, p:0.001, p:0.010, p:0.049, p:0.001, and p:0.101, respectively; for male, all p:0.001). Compared with healthy controls, MS patients had a significantly lower GLTEQ score (p:0.001), while the MFIS score (p:0.001) was higher. According to STAR, HGS, and gait speed, sarcopenia was diagnosed in 12 (17.64%) female and 7 (21.21%) male patients with MS. Whole-body sarcopenia was diagnosed in only 11 (10.9%) of the patients by BIA. HGS, gait speed, FFM, anterior TMT, and STAR values in sarcopenic MS patients were significantly lower than in non-sarcopenic for females (p:0.001, p:0.001, p:0.004, p:0.001, and p:0.001, respectively) and males (p:0.001, p:0.001, p:0.011, p:0.003, and p:0.001, respectively). MFIS score was significantly higher in sarcopenic patients than non-sarcopenic for both females (p:0.001) and males (p:0.036), but only the physical fatigue subscale was significantly higher. While the physical fatigue score was negatively correlated with GLTEQ in MS patients (r:-0.276, p:0.005), it was positively correlated with the expanded disability status scale (r:0.409, p:0.001). CONCLUSION: We detected that approximately one-fifth of MS patients have sarcopenia. Regional sarcopenia was more prevalent than whole body sarcopenia. We found a high degree of fatigue and lack of exercise in sarcopenic MS patients.

The impacts of masks and disinfectants on migraine patients in the COVID-19 pandemic.

Since the onset of the COVID-19 pandemic, the use of personal protective equipment (PPE) and disinfectants has become necessary to prevent transmission of the virus. However, the effects of such pandemic obligations on chronic diseases such as migraine have not been fully elucidated. We aimed to investigate the effects of the COVID-19 pandemic, as well as the use of masks and disinfectants, on migraine patients. A total of 310 migraine patients were included. Demographic data, migraine characteristics, and mask and disinfectant use were obtained through a face-to-face survey. Patients were grouped as worsening, stable, or improving according to pre-pandemic and pandemic migraine characteristics. Migraine worsening was found in 177 (57.1%) patients, stable course in 96 (31%) patients, and improvement in 37 (11.9%) patients. The use of scalp contact masks and double masks and daily mask duration were higher in the worsening group (p:0.005, p:0.005 and p:0.001). In addition, the frequency of personal disinfectant use was higher in this group (p:0.011). In regression analysis, mask type, daily mask duration, presence of allodynia, being a health worker, depression score, and odor were determined as independent risk factors for migraine worsening. We found a worsening of migraines in more than half of patients during the COVID-19 pandemic. We also demonstrated a relationship between migraine worsening and mask type, number of masks, and intensive disinfectant use. Migraine patients should be advised of optimal prevention methods based on individual social and working conditions rather than exaggerated preventative measures.

Increased Cortical Excitability in Female Migraineurs: A Transcranial Magnetic Stimulation Study Conducted in the Preovulatory Phase.

BACKGROUND AND PURPOSE: The cerebral cortex has been the focus of investigations of the pathogenesis of migraine for a long time. Transcranial magnetic stimulation (TMS) is a safe and effective technique for evaluating cortex excitability. Previous studies of the duration of the cortical silent period (CSP)-a measure of intracortical inhibition-in migraine patients have yielded conflicting results. We aimed to characterize cortical excitability by applying TMS to female migraineurs during the preovulatory phase of the menstrual cycle, in order to eliminate the effects of variations in sex hormones. METHODS: We enrolled 70 female subjects: 20 migraine with aura (MA) patients, 20 migraine without aura (MO) patients, and 30 healthy controls. We measured the CSP, resting motor threshold (rMT), and motor evoked potential (MEP) induced by TMS to evaluate cortical excitability during the preovulatory phase of the menstrual cycle. RESULTS: The CSP was shorter in MA patients (88.93±3.82 ms, mean±SEM) and MO patients (86.98±2.72 ms) than in the control group (109.06±2.85 ms) (both p=0.001), and did not differ significantly between the MA and MO groups (p=0.925). The rMT did not differ significantly among the groups (p=0.088). MEPmax was higher in MA patients than in healthy controls (p=0.014), while that in MO patients did not differ from those in MA patients and healthy controls (p=0.079 and p=0.068). CONCLUSIONS: We detected a shorter CSP in both MA and MO patients. This finding may indicate the presence of motor cortex hyperexcitability, which is probably due to reduced GABAergic neuronal inhibition in migraine.

Neurological manifestations of COVID-19 in confirmed and probable cases: A descriptive study from a large tertiary care center.

During the early phase of the COVID-19 pandemic, it was thought that virus affects only the respiratory system. However, now it is clear that it can affect other systems too, particularly the nervous system. We aimed to identify the most common neurological symptoms and findings of COVID-19 in hospitalized patients and investigate the relationship between these symptoms and clinical, radiological, and laboratory findings. A total of 307 patients, including 125 women and 182 men, were included in the study. They were classified as "confirmed cases" or "probable cases" based on confirmatory tests, including polymerase chain reaction testing of a nasopharyngeal sample or validated antibody test. All medical records, including medical history, clinical course, laboratory data, and radiographic studies, were evaluated by two expert neurologists. Altered mental status (AMS) is the most common neurological finding in both confirmed (68.1%) and probable cases (71.8%). Pre-existing neurological diseases were detected as an independent risk factor for AMS. The mortality rate of patients with AMS was dramatically higher than normal mental status in both confirmed (43.9% vs. 6.2%) and probable cases (47.3% vs. 6.9%) (for both p:0.001). The frequency of seizure attacks was 13.2% in confirmed and 17.5% in probable cases (p:0.321). The mortality rate was higher in patients with a seizure attack in both groups. We conclude that AMS was one of the most common neurological manifestations in this cohort of COVID-19 patients. The development of mental deterioration increases mortality dramatically. Also, the existence of seizure attacks was associated with a high mortality rate.

Addressing the heterogeneity in liver diseases using biological networks.

The abnormalities in human metabolism have been implicated in the progression of several complex human diseases, including certain cancers. Hence, deciphering the underlying molecular mechanisms associated with metabolic reprogramming in a disease state can greatly assist in elucidating the disease aetiology. An invaluable tool for establishing connections between global metabolic reprogramming and disease development is the genome-scale metabolic model (GEM). Here, we review recent work on the reconstruction of cell/tissue-type and cancer-specific GEMs and their use in identifying metabolic changes occurring in response to liver disease development, stratification of the heterogeneous disease population and discovery of novel drug targets and biomarkers. We also discuss how GEMs can be integrated with other biological networks for generating more comprehensive cell/tissue models. In addition, we review the various biological network analyses that have been employed for the development of efficient treatment strategies. Finally, we present three case studies in which independent studies converged on conclusions underlying liver disease.

The relationship between the heart-type fatty acid binding protein levels, carotid intima media thickness and epicardial fat thickness in patients with obstructive sleep apnea syndrome.

INTRODUCTION: In this study, we aimed to evaluate the relationship between carotid artery intima-media thickness, epicardial fat thickness measurement and the levels of heart-type fatty acid binding protein (hFABP) in patients with obstructive sleep apnea syndrome (OSAS). MATERIALS AND METHODS: Ninety-nine newly diagnosed OSAS patients and fifty non-OSAS control subjects were enrolled in this study. In both groups, demographic data such as age, sex, body mass index (BMI) were recorded and carotid intima-media thickness (CMIT) and epicardial fat thickness (EFT) were measured. hFABP levels were determined using the enzyme-linked immunosorbent assay (ELISA) method according to the manufacturer's protocols. RESULT: Patients with OSAS 67% male, 33% female gender is determined. The mean age of control group was 43.28 ± 12.12 years and group of OSAS was 47.85 ± 11.55 years (p= 0.026). In OSAS group; 38 mild OSAS (38.38%), 23 moderate OSAS (23.23%) and 38 severe OSAS (38.38%) patients were identified. In OSAS patients, average of apnea hypopnea index (AHI) was 29.83/hours. A positive correlation was observed between BMI with EFT and CMIT (p< 0.05). hFABP levels in OSAS group average was 2.65 ± 2.1 ng/mL and in control group average was 1.62 ± 0.90 ng/mL and this was statistically significant (p= 0.002). EFT, in the control group average was 5.3 ± 2.04 mm, while the average was 4.3 ± 1.79 mm in the OSAS group (p= 0.019). The correlation was observed between the CMIT and EFT (p< 0.001). There was no significant difference in BMI and gender between OSAS and control groups. No accompanying cardiovascular disease was detected in patients with OSAS. CONCLUSIONS: This study suggests EFT and hFABP can be used as a predictive value in determining cardiovascular risk in OSAS patients.

The Potential Use of Metabolic Cofactors in Treatment of NAFLD.

Non-alcoholic fatty liver disease (NAFLD) is caused by the imbalance between lipid deposition and lipid removal from the liver, and its global prevalence continues to increase dramatically. NAFLD encompasses a spectrum of pathological conditions including simple steatosis and non-alcoholic steatohepatitis (NASH), which can progress to cirrhosis and liver cancer. Even though there is a multi-disciplinary effort for development of a treatment strategy for NAFLD, there is not an approved effective medication available. Single or combined metabolic cofactors can be supplemented to boost the metabolic processes altered in NAFLD. Here, we review the dosage and usage of metabolic cofactors including l-carnitine, Nicotinamide riboside (NR), l-serine, and N-acetyl-l-cysteine (NAC) in human clinical studies to improve the altered biological functions associated with different human diseases. We also discuss the potential use of these substances in treatment of NAFLD and other metabolic diseases including neurodegenerative and cardiovascular diseases of which pathogenesis is linked to mitochondrial dysfunction.

A nationwide multicentre study in Turkey for establishing reference intervals of haematological parameters with novel use of a panel of whole blood.

INTRODUCTION: A nationwide multicentre study was conducted to establish well-defined reference intervals (RIs) of haematological parameters for the Turkish population in consideration of sources of variation in reference values (RVs). MATERIALS AND METHODS: K2-EDTA whole blood samples (total of 3363) were collected from 12 laboratories. Sera were also collected for measurements of iron, UIBC, TIBC, and ferritin for use in the latent abnormal values exclusion (LAVE) method. The blood samples were analysed within 2 hours in each laboratory using Cell Dyn and Ruby (Abbott), LH780 (Beckman Coulter), or XT-2000i (Sysmex). A panel of freshly prepared blood from 40 healthy volunteers was measured in common to assess any analyser-dependent bias in the measurements. The SD ratio (SDR) based on ANOVA was used to judge the need for partitioning RVs. RIs were computed by the parametric method with/without applying the LAVE method. RESULTS: Analyser-dependent bias was found for basophils (Bas), MCHC, RDW and MPV from the panel test results and thus those RIs were derived for each manufacturer. RIs were determined from all volunteers' results for WBC, neutrophils, lymphocytes, monocytes, eosinophils, MCV, MCH and platelets. Gender-specific RIs were required for RBC, haemoglobin, haematocrit, iron, UIBC and ferritin. Region-specific RIs were required for RBC, haemoglobin, haematocrit, UIBC, and TIBC. CONCLUSIONS: With the novel use of a freshly prepared blood panel, manufacturer-specific RIs' were derived for Bas, Bas%, MCHC, RDW and MPV. Regional differences in RIs were observed among the 7 regions of Turkey, which may be attributed to nutritional or environmental factors, including altitude.

The role of vitamin B1-B2 and plasma lipid profile in intrahepatic cholestasis of pregnancy.

AIM: The present study aimed to determine the levels of total cholesterol, triglycerides (TG), low-density lipoproteins (LDL), high-density lipoproteins (HDL), and vitamins B1 and B2 in intrahepatic cholestasis of pregnancy (ICP) patients, and to evaluate if these were involved in the pathophysiology of the disease. METHODS: The prospective randomized study included 35 pregnant patients who were admitted to the Gynecology and Obstetrics Polyclinic, Faculty of Medicine at Dicle University and who were diagnosed with ICP (Group 1), and 40 healthy pregnant women who were admitted in the same period and who had no systemic diseases that might complicate the pregnancy during the pregnancy follow-up (Group 2). Serum lipid levels and vitamins B1 and B2 were determined and compared, and statistical comparisons of the groups were made. RESULTS: There was no difference between the TG levels of the two groups (P=0.631). Total cholesterol, LDL, HDL, and vitamin B1 and B2 levels were higher in Group 1 than in Group 2 (P=0.001, P=0.001, P=0.001, P=0.001, and P=0.032, respectively). CONCLUSIONS: Increased levels of vitamins B1 and B2 may indicate a need for increased energy metabolism at the fetus. So we believe that new studies are required, which will be supported by the placental analyses of the pyruvate and lactate levels in maternal blood at delivery and fetal cord blood in order to develop a better understanding on the fetal effects of energy metabolism.

Is montelukast as effective as N-acetylcysteine in hepatic injury due to acetaminophen intoxication in rats?

This study aims to investigate the acute protective effect of montelukast sodium in hepatic injury secondary to acetaminophen (APAP) intoxication. This study used 60 rats. The rats were grouped into 6 groups. The control group was administered oral distilled water 10 ml/kg, the APAP group oral APAP 1 g/kg, the montelukast sodium (MK) group oral MK 30 mg/kg, the acetaminophen+N-acetylcysteine (APAP+NAC) group oral APAP 1 g/kg, followed by a single dose of intraperitoneal NAC 1.5 g/kg three hours later, the acetaminophen+montelukast sodium (APAP+MK) group oral APAP 1 g/kg, followed by oral MK 30 mg/kg 3 h later, the acetaminophen+N-acetylcysteine+montelukast sodium (APAP+NAC+MK) group oral APAP 1 g/kg, followed by a single intraperitoneal NAC 1.5 g/kg plus oral MK 30 mg/kg 3 h later. Blood and liver tissue samples were taken 24h after drug administration. Aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and total bilirubin were studied from the blood samples. Liver tissue samples were used for histopathological examination. Compared with the control group, serum AST and ALT activities were higher in the APAP and APAP+NAC groups. APAP+NAC, APAP+MK, and APAP+NAC+MK groups had reduced serum ALT and AST activities than the group administered APAP alone. APAP+MK and APAP+NAC+MK groups had a lower serum ALP activity than the control group. Histopathologically, there was a difference between the group administered APAP alone and the APAP+MK and APAP+NAC+MK groups. MK is as protective as NAC in liver tissue in APAP intoxication in rats.

Role of inflammation and oxidative stress in the etiology of primary ovarian insufficiency.

OBJECTIVE: The aim of this study was to elucidate the etiology and treatment of primary ovarian insufficiency, which is of unknown cause in 95% of the cases. MATERIALS AND METHODS: Thirty patients aged 18-40 years who presented to Dicle University Faculty of Medicine Clinic of Obstetrics and Gynecology between June 2012 and January 2014 and were diagnosed as having primary ovarian insufficiency based on their clinical and endocrinologic data, and 30 healthy controls were included in this study. RESULTS: No significant differences were found between patients with primary ovarian insufficiency and control subjects in demographic data and lipid profile levels, thyroid- stimulating hormone, prolactin, and glucose. However, the neutrophil to lymphocyte ratio and levels of follicle-stimulating hormone, luteinizing hormone, total antioxidant status, total oxidant status, and oxidative stress index were significantly higher in patients with primary ovarian insufficiency than in control subjects. In the correlation analysis, follicle-stimulating hormone exhibited a positive correlation with total oxidant status, oxidative stress index, and the neutrophil to lymphocyte ratio (r=0.573** p<0.001, r=0.584** p<0.001, r=0.541 p<0.001, respectively) and correlated negatively with total antioxidant status (r=-0.437** p<0.001). CONCLUSION: The neutrophil to lymphocyte ratio, total oxidant status, and oxidative stress index levels are elevated in primary ovarian insufficiency. Therefore, anti-oxidative and anti-inflammatory treatment might be administered to patients in the early stage of primary ovarian insufficiency. However, larger studies are needed to clarify whether these elevated levels are a cause or a consequence of primary ovarian insufficiency.

Levels of Neopterin and other Inflammatory Markers in Obese and Non-Obese Patients with Polycystic Ovary Syndrome.

BACKGROUND: We aimed to measure the levels of inflammatory markers and neopterin in obese and non-obese patients with PCOS by using 2 separate control groups with matching body mass index (BMI). MATERIAL AND METHODS: A total of 60 women of reproductive age with (n=30) and without (n=30) PCOS were included in this study. Based on their BMI, patients with PCOS were divided into 2 groups as obese (n=15) and non-obese (n=15) PCOS groups. In addition, 2 BMI-matched control groups were formed. Neopterin, tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), C-reactive protein (CRP), neutrophil-to-lymphocyte ratio (N/L ratio), and vitamin B12 were assessed by complete blood count. RESULTS: No significant difference was found between patients with PCOS and control subjects in neopterin, IL-6, TNF-α, and CRP levels. However, N/L ratio levels were significantly higher (p 0.045) and vitamin B12 levels were significantly lower (p 0.033) in patients with PCOS compared to control subjects. No statistically significant difference was found between obese and non-obese patients with PCOS and control subjects in neopterin, IL-6, TNF-α, and N/L ratio levels. However, CRP levels were significantly higher in obese patients with PCOS compared to obese control subjects (p 0.007). CONCLUSIONS: It can be concluded that inflammatory activity is increased in patients with PCOS, can lead to an increased risk for atherosclerosis, and this increase is not caused by obesity but rather by the polycystic ovary syndrome itself. However, studies with larger sample sizes are needed in this area.

Urinary expression of acute kidney injury biomarkers in patients after RIRS: it is a prospective, controlled study.

OBJECTIVE: To evaluated the damage effects of retrograde intra-renal surgery (RIRS) on kidney tissue by measuring kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), N-acetyl-ß-D-glucosaminidase (NAG), liver-type fatty acid binding protein (LFABP) expression. MATERIAL AND METHODS: We enrolled thirty consecutive patients (Group 1) who underwent RIRS that presented with renal calculi size < 2 cm. Forty-seven control patients (Group 2) with no signs or symptoms of urogenital disease were also enrolled for this study. Patients urine KIM-1, NGAL, NAG, and LFABP and creatinine levels were determined before the surgery, 2 hours after the surgery, and 24 hours after the surgery. RESULTS: Demographic data were established and found to be similar between the two groups. Two hours after the surgery KIM-1/Cr and NGAL/Cr levels had increased significantly in urine compared to levels before the surgery (P:0.04, P:0.02 respectively) and decreased 24 hours after the surgery. The NAG/Cr and LFABP/Cr levels did not change significantly after the surgery. CONCLUSION: According to acute kidney injury (AKI) markers, this study is suggests that RIRS is a safe method , KIM-1/Cr and NGAL/Cr levels were increased first 2 hours but returned to initial levels within 24 hours after the surgery.

Effects of Storage Temperature and Time on Stability of Serum Tacrolimus and Cyclosporine A Levels in Whole Blood by LC-MS/MS.

Tacrolimus and cyclosporine A are immunosuppressant drugs with narrow therapeutic windows. The aim of this study was to investigate the stability of tacrolimus and cyclosporin A levels in whole blood samples under different storage conditions. Whole blood samples were obtained from 15 patients receiving tacrolimus and 15 patients receiving cyclosporine A. Samples were immediately analyzed and then stored at different conditions (room temperature (24°C-26°C) for 24 hours, +4°C for 24 and 48 hours, and -20°C for one month) and then analyzed again. For tacrolimus, there was a significant difference between samples analyzed immediately and those kept 24 hours at room temperature (P = 0.005) (percent change 32.89%). However, there were no significant differences between the other groups. For cyclosporine A, there was a significant difference between samples analyzed immediately and those kept 24 hours (P = 0.003) (percent change 19.47%) and 48 hours (P = 0.002) (percent change 15.38%) at +4°C and those kept 24 hours at room temperature (P = 0.011) (percent change 9.71%). Samples of tacrolimus should be analyzed immediately or stored at either +4°C or -20°C, while samples of cyclosporine A should be analyzed immediately or stored at -20°C.

Serum omentin, resistin and tumour necrosis factor-α levels in Behcet patients with and without ocular involvement.

PURPOSE: The objective of this study was to evaluate serum omentin, resistin and tumour necrosis factor-α (TNF-α) levels in Behcet disease (BD) patients with and without ocular involvement, as well as control subjects. METHODS: Omentin, resistin and TNF-α levels were assessed in the plasma of 51 BD patients and compared with those of 24 control subjects. RESULTS: The plasma resistin and TNF-α levels were significantly higher in the BD patients than in the control group (p = 0.028 and p = 0.011, respectively), whereas the plasma omentin level was significantly lower in BD patients than in the control group (p = 0.035). In the ocular BD, non-ocular BD and control groups, the omentin levels were 8.9 ± 4.65, 8.6 ± 3.61, and 12.4 ± 6.24 ng/mL; resistin levels were 0.29 ± 0.21, 0.24 ± 0.2 and 0.15 ± 0.45 ng/mL; and TNF-α levels were 25.45 ± 3.65, 24.03 ± 2.49 and 21.93 ± 4.86 ng/mL, respectively. Omentin/resistin and TNF-α/omentin ratios were more significant parameters in the demonstration of the differences in the groups; the former was lower and the latter was higher in the patient groups (p = 0.001 and p = 0.002, respectively). CONCLUSIONS: We demonstrated that the plasma omentin level and omentin/resistin ratio were decreased, whereas the resistin and TNF-α levels and TNF-α/omentin ratio were increased in BD patients. These ratios may be used in the presentation of deviation in the inflammatory and anti-inflammatory balance in BD.

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.

Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance. The patient was born to parents who were first cousins. Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic acid level was detected by gas chromatography/mass spectrometry. The PEX7 gene was sequenced in the patient and his parents. A novel homozygous mutation, c.192delT (p.F64Lfs*10), was identified in the patient and was present in heterozygosity in both parents. In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.