ABSTRACT
Anti-HMGCR myopathy is decribed as an immune-mediated necrotizing myopathy which is characterised by subacute, progressive proximal muscle weakness and elevated creatine kinase (CK) level. In pediatric population, anti-HMGCR myopathy has been reported solely as small case reports, albeit rare. Although treatment consensus has not yet been established, proper treatment with several immunomodulators to include IVIg can show remarkable improvement. We report an 11-year-old-girl diagnosed with anti-HMGCR myopathy with 6 years of follow-up.
Subject(s)
Muscular Diseases , Humans , Child , Female , Muscular Diseases/chemically induced , Muscular Diseases/immunology , Muscular Diseases/drug therapy , Follow-Up Studies , Hydroxymethylglutaryl CoA Reductases/immunology , Autoantibodies , Immunoglobulins, Intravenous/therapeutic useABSTRACT
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis. Sixty-four patients with PCH were 28 female (43.8%) and 36 (56.3%) male. The patients revealed homozygous mutation in 89.1%, consanguinity in 79.7%, pregnancy at term in 85.2%, microcephaly in 91.3%, psychomotor retardation in 98.4%, abnormal neurological findings in 100%, seizure in 63.8%, normal biochemistry and metabolic investigations in 92.2%, and dysmorphic findings in 51.2%. The missense mutation was found to be the most common variant type in all patients with PCH. It was detected as CLP1 (n = 17) was the most common PCH related gene. The homozygous missense variant c.419G > A (p.Arg140His) was identified in all patients with CLP1. Moreover, all patients showed the same homozygous missense variant c.919G > T (p.A307S) in TSEN54 group (n = 6). In Turkey, CLP1 was identified as the most common causative gene with the identical variant c.419G > A; p.Arg140His. The current study supports that genotype data on PCH leads to phenotypic variability over a wide phenotypic spectrum.
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OBJECTIVE: Epilepsy is a chronic disease that requires long-term monitoring and treatment. It is suspected that there is a interaction between the use of anti-seizure medications and the risk of cardiovascular disease. The aim of the study is to investigate the association between the intake of phenobarbital, carbamazepine and valproic acid and their serum drug concentrations (SDC) with various cardiovascular risk parameters (homocysteine, folic acid, vitamin B12, total cholesterol (TC), triglycerides, high- and low-density lipoprotein (LDL)). METHODS: This is a cross-sectional study. Data (demographic characteristics and laboratory results) of patients treated for epilepsy in a tertiary care hospital between January 2020 and February 2022 were analyzed retrospectively (n = 2014). Kruskal Wallis, Mann-Whitney U, correlation analysis was used, p < 0.05 was considered statistically significant. RESULTS: The median age of patients was 15 years (IQR:8-31) and 48.3 % were women. The highest homocysteine level was found in patients receiving valproic acid, but it was not statistically significant. Patients receiving phenobarbital had the highest levels of folic acid and B12 and the lowest levels of total cholesterol and low-density lipoprotein cholesterol, which was statistically significant. In patients receiving carbamazepine, a moderately negative significant association was found between serum drug concentration and folic acid levels and a moderately positive significant association was found between TC and LDL levels. CONCLUSION: In our study, the majority of patients were children and adolescents. Regular monitoring of drug serum concentrations and metabolic parameters may be useful to select the safest drug in terms of cardiovascular disease risk. Randomized controlled trials on the long-term effects of anti-seizure treatment are needed.
Subject(s)
Anticonvulsants , Carbamazepine , Cardiovascular Diseases , Epilepsy , Valproic Acid , Humans , Female , Anticonvulsants/therapeutic use , Anticonvulsants/blood , Anticonvulsants/adverse effects , Cross-Sectional Studies , Male , Adult , Epilepsy/drug therapy , Epilepsy/blood , Adolescent , Young Adult , Valproic Acid/therapeutic use , Valproic Acid/adverse effects , Valproic Acid/blood , Cardiovascular Diseases/blood , Child , Carbamazepine/therapeutic use , Carbamazepine/blood , Carbamazepine/adverse effects , Homocysteine/blood , Phenobarbital/therapeutic use , Phenobarbital/blood , Retrospective Studies , Vitamin B 12/blood , Heart Disease Risk Factors , Folic Acid/bloodABSTRACT
Salinity is one of the most important abiotic stress factors that negatively affect plant growth and development. In contrast, fusaric acid (FA), a mycotoxin produced by Fusarium and Giberella fungal genera, has biological and metabolic effects in various plants. In this study, it was aimed to investigate the protective effect of externally applied FA (0.1 nM) against the damage caused by salt (0.15 M NaCl) stress in onion (Allium cepa L.) plant. Salt stress resulted in an increase in the chromosomal aberrations (CAs) and micronucleus (MN) frequency, a decrease in the mitotic index (MI), fresh weight, root number, germination percentage, and root length. It promoted CAs such as irregular mitosis, bilobulated nuclei, chromosome loss, bridge, unequal seperation of chromosome, vagrant chromosome and polar slip in root meristem cells. In addition, salt stress caused a enhancement in free proline (PR), catalase (CAT), superoxide dismutase (SOD) and malondialdehyde (MDA) contents in the roots of onion plant. Moreover, it revealed damage and changes that include the accumulation of some chemical substances such as proline and sugars in epidermis and cortex layer cells, epidermal cell injury, flattening of the cell nucleus, wall thickening in cortex cells, necrotic areas and indistinct transmission tissue in the anatomical structure of onion roots. On the other hand, FA application promoted bulb germination and mitotic activity, strengthened the antioxidant defense system, and reduced chromosome and anatomical structure damages. In conclusion; it has been revealed that exogenous FA application may have a positive effect on increasing the resistance of onion plants to salt stress.
Subject(s)
Mycotoxins , Onions , Fusaric Acid/pharmacology , Sodium Chloride/pharmacology , Sodium Chloride/metabolism , Mycotoxins/metabolism , Antioxidants/pharmacology , Antioxidants/metabolism , Plant Roots/metabolism , Proline/metabolism , Cytogenetic AnalysisABSTRACT
PURPOSE: We investigated the volumetric differences in cortical and subcortical structures between patients with complex febrile seizure (FS) and recurrent simple FS. We aimed to identify the brain morphological patterns of children with complex FS. METHODS: Twenty-five patients with complex FS and age- and sex-matched 25 patients with recurrent simple FS with structural magnetic resonance imaging (MRI) scans were studied. Cortical volumetric analysis was performed using a voxel-based morphometry method with the CAT12 toolbox within SPM12. FSL-FIRST was used to obtain volume measures of subcortical deep grey matter structures (amygdala, caudate nucleus, thalamus, nucleus accumbens, putamen, globus pallidus, and hippocampus). The volumetric asymmetry index (AI) and laterality index (LI) were calculated for each subcortical structure. RESULTS: Compared with recurrent simple FS, complex FS demonstrated lower volume in the left putamen (p = .003) and right nucleus accumbens (p = .001). Additionally, patients with complex FS presented a higher magnitude of AI of the nucleus accumbens (p < .001) compared with recurrent simple FS. CONCLUSIONS: The findings indicate that volumetric analysis may be a useful marker for the detection of FS-induced changes that reflect microstructural alterations. This study is the first to report on alterations in the putamen and nucleus accumbens in FS.
Subject(s)
Seizures, Febrile , Child , Humans , Seizures, Febrile/diagnostic imaging , Seizures, Febrile/pathology , Magnetic Resonance Imaging/methods , Thalamus/pathology , Globus Pallidus/pathology , HippocampusABSTRACT
BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.
Subject(s)
Aquaporins , Multiple Sclerosis , Neuromyelitis Optica , Optic Neuritis , Humans , Male , Adolescent , Female , Child , Retrospective Studies , Myelin-Oligodendrocyte Glycoprotein , Oligoclonal Bands , Turkey/epidemiology , Optic Neuritis/diagnosis , Multiple Sclerosis/complications , Autoantibodies , Methylprednisolone , Aquaporin 4 , Neuromyelitis Optica/complicationsABSTRACT
OBJECTIVES: To evaluate clinical characteristics, imaging features and etiological profile of Radiologically Isolated Syndrome (RIS) along with clinical and radiological follow-up. METHODS: Demographic, clinical and radiological data of patients younger than 18 years fulfilling the criteria for RIS were retrospectively analyzed. RIS was defined by the detection of lesions meeting the revised 2010 McDonald Criteria for dissemination in space on magnetic resonance imaging (MRI) in the absence of any symptoms of demyelinating disease or an alternative cause for the MRI findings. RESULTS: There were total 69 patients (38 girls, 31 boys). The median age at index MRI was 15.7 years, and median follow-up time was 28 months. The most common reason for neuroimaging was headache (60.9%). A first clinical event occurred with median 11 months in 14/69 (20%) of cases. Those with oligoclonal bands (OCB) in cerebrospinal fluid (CSF) and follow-up longer than 3 years were more likely to experience a clinical event (p<0.05): 25% of those with OCB manifested clinical symptoms within the first year and 33.3% within the first two years compared to 6.3% and 9.4%, respectively in those without OCB. Radiological evolution was not associated with any variables: age, sex, reason for neuroimaging, serum 25-hydroxyvitamin D level, elevated IgG index, OCB positivity, total number and localization of lesions, presence of gadolinium enhancement, achievement of 2005 criteria for DIS and duration of follow-up. CONCLUSION: Children and adolescents with RIS and CSF OCB should be followed-up for at least 3 years in order to detect any clinical symptoms suggestive of a demyelinating event. Because disease-modifying treatments are not approved in RIS and no consensus report justifies their use especially in pediatric RIS, close follow-up of OCB-positive patients is needed for early recognition of any clinical event and timely initiation of specific treatment.
Subject(s)
Autoimmune Diseases of the Nervous System , Demyelinating Diseases , Multiple Sclerosis , Male , Female , Humans , Child , Adolescent , Multiple Sclerosis/diagnosis , Retrospective Studies , Contrast Media , Gadolinium , Demyelinating Diseases/diagnostic imaging , Demyelinating Diseases/cerebrospinal fluid , Oligoclonal Bands/cerebrospinal fluid , Magnetic Resonance ImagingABSTRACT
Aycan Ünalp, Yigithan Güzin, Bülent Ünay, Ayse Tosun, Dilek Çavusoglu, Hande Gazeteci Tekin, Semra Hiz Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yis, Ünsal Yilmaz, Turkish Rare Epilepsies Study Group, Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort, Epileptic Disorders, 2023, (https://doi.org/10.1002/epd2.20150) The above article, published online on 16 August 2023 on Wiley Online Library (www.onlinelibrary.wiley.com), has been retracted by agreement between the authors, the Editor-in-Chief, Sándor Beniczky, and John Wiley & Sons Ltd. The authors asked for a retraction based on an experimental error which would alter the results of the study if corrected.
ABSTRACT
OBJECTIVE: The pathophysiology of epilepsy remains unknown. Recent research has shown that microRNA expression changes in epileptic adults. In the present work, we aimed to identify serum microRNA expression in drug-responsive and resistant children with idiopathic general- ized epilepsy. MATERIALS AND METHODS: The study included 43 (20 male and 23 female) epilepsy patients and 66 (43 male and 23 female) control subjects. The mean ages of the groups were 113.41 ± 61.83 and 105.46 ± 62.31 months, respectively. Twenty-eight epileptic patients were classi- fied as drug resistant. Thirteen of the controls were the siblings of patients with epilepsy. The study only included children with idiopathic generalized epilepsy who had normal brain mag- netic resonance imaging. The serum microRNA expressions (microRNA-181a, microRNA-155, microRNA-146, and microRNA-223) were investigated. Expressions of serum microRNA-181a, microRNA-155, microRNA-146, and microRNA-223 were previously investigated in epilepsy patients and children with febrile seizures. Therefore, these microRNAs were chosen. The expressions of serum levels of microRNAs were determined using quantitative real-time poly- merase chain reaction. RESULTS: The results indicated that the expressions of serum microRNA-155 and microRNA-223 were elevated in epileptic children (P < .05). The expression of the same microRNAs was also elevated in individuals with drug-resistant epilepsy compared to healthy controls (P < .05). microRNA-146a, microRNA-155, and microRNA-223 expressions were higher in drug-resistant patients than in drug-responsive children (P < .05). A logistic regression study determined that an increase of microRNA-155 was a risk for epilepsy, while a decrease of microRNA-146a risk for epilepsy. CONCLUSION: Few researchers have investigated the function of microRNAs in the develop- ment of childhood epilepsy. Our findings revealed that epilepsy patients have abnormal microRNAexpression.
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Fusicoccin is a diterpene glycoside that plays an important role in the regulation of plant growth and development. Fusicoccin produced by Fusicoccum amydali fungus is known to affect plant growth positively with external applications due to its potential to stimulate the tolerance system of plants under stress conditions. In this study, it was aimed to reduce the negative effects of salt (0.15 M NaCl) stress on the germination and growth of onion (Allium cepa L.) bulbs by external fusicoccin (3 µM) application. For this purpose, the germination percentage, root length, root number, fresh weight, mitotic activity, micronucleus frequency, chromosomal abnormality, antioxidant enzyme activity, osmolyte accumulation, cell membrane damage and root anatomical structure were investigated in the current study. Salt stress caused a statistically significant difference (p < 0.05) in all examined parameters. External application of fusicoccin to onion bulbs germinated under salt stress conditions was found to be promising as a plant growth promoter and mitosis stimulator. In addition, fusicoccin application alleviated the harmful effects of salt stress on the chromosome structure and root anatomical structure and protected the cells from the cytotoxic and genotoxic effects of salt. Moreover, this application contributed to the fight against reactive oxygen species of onion plant and increased salt tolerance by regulating the accumulation of osmolyte substances such as proline and antioxidant enzymes such as superoxide dismutase and catalase, and by minimizing cell membrane damage in root cells. In conclusion, this study showed that exogenous application of 3 µM fusicoccin reduced the damage caused by oxidative stress in onion bulbs and served for healthy germination and growth.
Subject(s)
Antioxidants , Onions , Antioxidants/pharmacology , Antioxidants/metabolism , Glycosides/pharmacology , Salt Stress , Plant Roots/metabolismABSTRACT
In this study, the multiple toxicities induced by three different doses (1, 5, and 10 µM) of fusaric acid (FA), a mycotoxin, was investigated with Allium test. Physiological (percent germination, root number, root length, and weight gain), cytogenetic (micronucleus = MN, chromosomal abnormalities = CAs, and mitotic index = MI), biochemical (proline level, malondialdehyde = MDA level, catalase = CAT activity, and superoxide dismutase = SOD activity), and anatomical parameters were used as indicators of toxicity. Allium cepa L. bulbs were divided into four groups as one control and three applications. The bulbs in the control group were germinated with tap water for 7 days, and the bulbs in the treatment groups were germinated with three different doses of FA for 7 days. As a result, FA exposure caused a decrease in all physiological parameters examined at all three doses. Besides, all FA doses caused a decrease in MI and an increase in the frequency of MN and the number of CAs. FA promoted CAs such as nucleus with vacuoles, nucleus buds, irregular mitosis, bridge, and misdirection in root meristem cells. DNA and FA interactions, which are the possible causes of genotoxic effects, were examined by spectral analysis, and FA could interact with DNA through intercalation, causing bathochromic and hypochromic shifts in the spectrum. FA also causes toxicity by inducing oxidative stress in cells, confirming this; dose-related increases in root MDA and proline levels were measured as a result of FA exposure. In the root SOD and CAT enzyme activities, increases up to 5 µM doses and decreases at 10 µM doses were measured. FA exposure induced anatomical damage such as necrosis, epidermis cell damage, flattened cell nucleus, thickening of the cortex cell wall, and unclear vascular tissue in root tip meristem cells. As a result, FA caused a comprehensive toxicity by showing an inhibitory effect in A. cepa test material, and the Allium test was a very useful test in determining this toxicity.
Subject(s)
Allium , Mycotoxins , Fusaric Acid/toxicity , Plant Roots , Superoxide Dismutase , DNAABSTRACT
We aimed to identify nonconvulsive seizures (NCS) and nonconvulsive status epilepticus (NCSE) in a pediatric intensive care unit (PICU). A prospective cohort study on 35 patients who underwent continuous electroencephalographic monitoring in the PICU was done. The patients were evaluated to collect data of their demographics, clinical diagnoses, clinical seizures by electroencephalography, and neuroimaging findings. One case with NCSE and 4 cases with NCS were diagnosed among the 35 patients. The etiology of the patient with NCSE showed antiepileptic drug (AED) withdrawal. The etiology of the patients with NCS included electrical injury, head trauma, subarachnoid hemorrhage, and pneumonia. The findings suggest that younger age, epilepsy, acute structural brain abnormalities, abrupt cessation of AED, and clinically overt seizures before NCSE/NCS are associated with significant risk for NCS/NCSE. In addition, the electrical injury may also be considered as a risk factor for electrographic seizure though such a case has not yet been reported.
Subject(s)
Status Epilepticus , Child , Humans , Prospective Studies , Status Epilepticus/diagnosis , Status Epilepticus/drug therapy , Status Epilepticus/etiology , Seizures/diagnosis , Seizures/drug therapy , Seizures/etiology , Anticonvulsants/therapeutic use , Electroencephalography/methods , Intensive Care Units, PediatricABSTRACT
Coronatine (COR), a bacterial phytotoxin produced by Pseudomonas syringae, plays important roles in many plant growth processes. Onion bulbs were divided four groups to investigate the effects of COR against sodium chloride (NaCl) stress exposure in Allium cepa L. root tips. While control group bulbs were soaked in tap water medium, treatment group bulbs were grown in 0.15 M NaCl, 0.01 µM COR and 0.01 µM COR + 0.15 M NaCl medium, respectively. NaCl stress seriously inhibited the germination, root lenght, root number and fresh weight of the bulbs. It significantly decreased the mitotic index (MI), whereas dramatically increased the micronucleus (MN) frequency and chromosomal aberrations (CAs). Moreover, in order to determine the level of lipid peroxidation occurring in the cell membrane, malondialdehyde (MDA) content was measured and it was determined that it was at the highest level in the group germinated in NaCl medium alone. Similarly, it was revealed that the superoxide dismutase (SOD), catalase (CAT) and free proline contents in the group germinated in NaCl medium alone were higher than the other groups. On the other hand, NaCl stress caused significant injuries such as epidermis/cortex cell damage, MN formation in epidermis/cortex cells, flattened cells nuclei, unclear vascular tissue, cortex cell wall thickening, accumulation of certain chemical compounds in cortex cells and necrotic areas in the anatomical structure of bulb roots. However, exogenous COR application significantly alleviated the negative effects of NaCl stress on bulb germination and growth, antioxidant defense system, cytogenetic and anatomical structure. Thus, it has been proven that COR can be used as a protective agent against the harmful effects of NaCl on onion.
Subject(s)
Onions , Sodium Chloride , Sodium Chloride/pharmacology , Sodium Chloride/metabolism , Antioxidants/pharmacology , Antioxidants/metabolism , Plant Roots/metabolism , Oxidative Stress , Cytogenetic Analysis , Malondialdehyde/metabolismABSTRACT
Anti N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disease that often presents with various neurological and neuropsychiatric symptoms. Although most reported cases occur in children, only a limited number of studies on children are available. The subject of this case report is an 8-month-old female who presented with fever, vomiting, and seizure. She was diagnosed with encephalitis and treated with acyclovir. After 21 days, she showed irritability, seizure, orolingual-facial dyskinesias, choreodystonic movements, hemiparesis, dysphagia, strabismus, lack of interest in light and objects. Clinical signs, neuroimaging findings, and serum analysis of anti-NMDAR antibodies confirmed the diagnosis of anti-NMDAR encephalitis. After the first line of treatment, she showed full recovery. We update the infants with anti-NMDAR encephalitis in the literature. Clinical outcomes suggest that patients with anti-NMDAR encephalitis are mostly poor in the infants, excluding our case. We propose that early and appropriate treatments are critical for timely diagnosis and rapid improvement.
ABSTRACT
Background: Febrile seizures are the most common form of convulsive disorder in childhood. The mechanisms underlying the pathogenesis of febrile seizure remain unclear. Objective: The aim of this study was to assess the immunoglobulin (IG) sub-group levels in children with febrile seizures. Methods and Material: The patients with a diagnosis of febrile seizure with an age range of 1-7 years who attended the clinic were included in the study. Neurologically normal and age- and sex-matched children with no history of febrile seizures were considered as controls. Results: A total of 64 patients and 100 control subjects participated in this study. There were no significant inter-group differences in terms of sex and age of the participants (p >.05). There was no statistical difference between case and control groups for serum lymphocyte count, IgA, IgG, IgM, IgE levels, and anti-HB response (p >.05). Conclusion: Our study demonstrated that there is no difference in humoral immunity between children with febrile seizures and control subjects with the same age range.
Subject(s)
Seizures, Febrile , Child , Humans , Infant , Child, Preschool , ImmunoglobulinsABSTRACT
BACKGROUND: Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is disrupted with low-normal cerebrospinal fluid (CSF) 5,10-methenyltetrahydrofolate levels, while peripheral folate levels are normal. CASE REPORT: We present here a female patient with developmental delay, microcephaly, hypotonia, nystagmus, and seizure in which a distinct brain MRI and CT showed restricted diffusion in the bilateral parietal and occipital lobes, and calcifications of the bilateral putamen, globus pallidus, and caudate nucleus, and the bilateral parietal and occipital lobes. Laboratory tests revealed macrocytic anemia, increased homocysteine, low-normal CSF 5,10-methenyltetrahydrofolate, and low CSF folate, but normal serum vitamin B12 and folate levels. A whole exome sequencing analysis verified the diagnosis of 5,10-methenyltetrahydrofolate synthetase deficiency. CONCLUSIONS: We have added novel knowledge which is nystagmus and hypotonia in the clinical findings, the involvement and restriction of bilateral putamen, globus pallidus, parietal and occipital lobes, and calcification of the bilateral putamen, globus pallidus, caudate nucleus, and parietal and occipital lobes in neuroimaging images and also low CSF folate in the metabolic investigation with the patient in 5,10-methenyltetrahydrofolate synthetase deficiency.
Subject(s)
Carbon-Nitrogen Ligases , Folic Acid Deficiency , Metabolic Diseases , Vitamin B 12 Deficiency , Carbon-Nitrogen Ligases/metabolism , Female , Folate Receptor 1 , Folic Acid , Humans , Muscle Hypotonia , Vitamin B 12 Deficiency/diagnosisABSTRACT
Mercury (Hg) is a highly toxic heavy metal for all organisms. In the present study, the mitigative role of 190 mg/L and 380 mg/L doses of green tea extract (GTex) against mercury(II) chloride (HgCI2)-induced toxicity was evaluated in Allium cepa L. For this aim, selected physiological, genotoxicity, and biochemical parameters as well as meristematic cell injuries in the roots were investigated. Ratios of catechin and caffeine in GTex were determined by HPLC analysis. Also, free radical scavenging activity of GTex was tested against superoxide and hydrogen peroxide radicals. As a result of HgCI2 application, germination percentage, root elongation, weight gain, and mitotic index (MI) declined, while the frequency of micronucleus (MN), chromosomal abnormalities (CAs), and meristematic cell damages increased. HgCI2 administration also led to a significant increase in malondialdehyde content, superoxide dismutase, and catalase activities which are signs of oxidative stress. On contrary, applications of GTex together with HgCI2 reduced HgCI2-induced adverse effects in all parameters in a dose-dependent manner. Antioxidant components in GTex were listed as caffeine, epigallocatechin gallate, epigallocatechin, epicatechin gallate, and catechin according to their abundance. GTex exhibited a strong scavenging ability in the presence of superoxide and hydrogen peroxide radicals. The present study revealed the strong protective capacity of GTex against HgCI2-induced toxicity in A. cepa owing to its high antioxidant content with a multifaceted perspective. With this study, a reliable starting point was established for future studies investigating the more common and diverse use of GTex against toxic substances.
Subject(s)
Catechin , Mercury , Antioxidants/pharmacology , Caffeine , Chlorides , Hydrogen Peroxide , Mercury/toxicity , Onions , Plant Extracts/pharmacology , Plant Roots , Superoxides , TeaABSTRACT
Organisms are increasingly exposed to ultraviolet (UV) rays of sunlight, due to the thinning of the ozone layer and its widespread use in sterilization processes, especially against the SARS-CoV-2 virus. The present study was conducted with the purpose of evaluating the damages of UV-A and UV-C radiations in Allium cepa L. roots. The effects of two different types of UV on some physiological, biochemical, cytogenotoxic, and anatomical parameters were investigated in a multifaceted study. Three groups were formed from Allium bulbs, one of which was the control group. One of the other groups was exposed to 254 nm (UV-C) and the other to 365 nm (UV-A) UV. Growth retardation effect of UV was investigated with respect to germination percentage, total weight gain, and root elongation, while cytogenotoxicity arisen from UV exposure was analyzed using mitotic index (MI) and chromosomal aberration (CA) and micronucleus (MN) frequency. Oxidative stress due to UV application was investigated based on the accumulation of malondialdehyde (MDA) and the total activities of superoxide dismutase (SOD) and catalase (CAT) enzymes. Also, anatomical changes induced by UV-A and UV-C were analyzed in root meristematic cells. UV treatments caused significant reductions in growth-related parameters. Both UV treatments caused a significant increase in MDA levels and induction of SOD and CAT enzymes in root meristematic cells. A decrease in MI and an increase in the frequency of MN and CAs were observed in root tip cells, indicating the cytogenotoxic effect of UV application. Anatomical damages such as epidermis cell damage, cortex cell damage, necrotic zones, giant cell nucleus, and indistinct transmission tissue occurred in cells exposed to UV. All of the physiological, biochemical, cytogenetic, and anatomical damages observed in this study were more severe in cells treated with UV-C compared to UV-A. This study suggested that UV exposure triggered growth inhibition, cytogenotoxicity, oxidative stress, and meristematic cell damages in A. cepa roots depending on the wavelength.