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Case Reports 2015; 36(4): 311-315 PubMed PMID: 26454485 Citation  Keywords:  Heavy Metal Poisoning, Nervous System:complications, Humans, Male, Metals, Heavy:poisoning, Poisoning:complications, Self-Injurious Behavior:complications, Thallium:poisoning, Young Adult,.   

: We report a rare case of serious voluntary intoxication by laboratory thallium monobromate combined with alcohol intake by a 24-years old man. The diagnosis of thallium intoxication was based on history, nonspecific but typical clinical symptoms including gastrointestinal complaints, painful polyneuropathy, alopecia, and confirmed by the finding of increased thallium concentration in the urine. The treatment, performed at the due time, consisted of decontamination of the stomach by irrigation, administration of active charcoal and Prussian blue, correction of water and mineral dysbalance, symptomatic treatment, and led to complete recovery....

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Case Reports 2015; 36(2): 124-126 PubMed PMID: 26071579 Citation  Keywords:  Central Nervous System Neoplasms:diagnosis, Demyelinating Diseases:diagnosis, Fatal Outcome, Female, Humans, Lymphoma, Non-Hodgkin:diagnosis, Middle Aged,.   

: We report a case of histopathologically-confirmed primary central nervous system lymphoma who was initially diagnosed as demyelinating encephalopathy. A 58-year-old woman was admitted with confusion and left hemiparesis. Head MR showed abnormal flaky hypointense T1 and hyperintense T2 signals at right thalamus, splenium of corpus callosum, bilateral cerebral peduncle, pons, medulla oblongata, basal ganglia and right corona radiata. Her mental status improved a little and she was discharged from hospital after neuroprotective treatment. 10 days after her discharge, her confusion appeared again with hallucination and unsteady walking. Pathological examination revealed non-Hodgkin's lymphoma (WHO classification: DLBCL). The patient continued to deteriorate after the surgery and died 10 days later....

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Journal Article 2015; 36(1): 72-79 PubMed PMID: 25789587 Citation  Keywords:  Adolescent, Autonomic Nervous System:physiopathology, Colitis, Ulcerative:physiopathology, Crohn Disease:physiopathology, Female, Heart Rate:physiology, Humans, Inflammatory Bowel Diseases:physiopathology, Male,.   

OBJECTIVE: Heart rate variability (HRV) oscillations are used in the detection of autonomic instabilities in various clinical disorders.

METHODS: We compared the HRV as a possible marker of chronic distress in children with inflammatory bowel disease (IBD) with HRV frequencies in the healthy controls. Participants were 29 children with IBD (19 Crohn's disease and 10 ulcerative colitis), 25 children were in remission and 4 presented mild disease activity. They were compared with the control group of 35 healthy children of the same age (13-16 years-old).

RESULTS: In HRV assessment, adolescents with IBD had significantly lower levels of the spectral activity in an LF band in all three positions; lower levels of VLF in both supine positions; and the ratio of the spectral activity at LF/HF was significantly lower in the second post (standing).

CONCLUSION: These results indicate children with IBD have less adaptability to stress....

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Case Reports 2014; 35(2): 137-141 PubMed PMID: 24878975 Citation  Keywords:  Central Nervous System:physiopathology, Child, Glycogen Storage Disease:complications, Humans, Intellectual Disability:complications, Male, Microcephaly:complications, Mutation, Missense, Phenotype, Phosphoglucomutase:genetics,.   

OBJECTIVES: A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability. The multi-systemic manifestation involving certain distinct clinical features prompted us to search for a subtype of congenital disorders of glycosylation (CDG).

METHODS: The patient was screened for CDG by examining the distribution of transferrin (TRF) and apolipoprotein C-III (ApoC-III) sialylated isoforms using isoelectric focusing of serum. This was followed by spectrophotometric measurement of phosphoglucomutase 1 (PGM1) activity in fibroblasts and molecular analysis including sequencing and PCR-RFLP of PGM1 gene. Selected bioinformatics tools were used to evaluate the data.

RESULTS: Increased relative levels of di-, mono- and asialotransferrin reflected a defect of N-glycosylation in the patient. Markedly decreased activity of PGM1 corresponding to less than 5% of control´s was found. Sequencing of PGM1 gene revealed the presence of two heterozygous missense mutations c.1010C>T (p.T337M) and c.1508G>A (p.R503Q), whose pathogenicity was confirmed by in silico analysis.

CONCLUSION: We report the first Czech patient with a glycosylation disorder due to PGM1 deficiency. Compared to the described cases, no dilated cardiomyopathy was noted in our patient. However, he suffered from a mild neurological impairment, which is an uncommon feature that extends the phenotype associated with PGM1-CDG. Lactose-rich diet, which was previously reported to have ameliorated the clinical symptoms in some PGM1-CDG patients, did not result in any improvement in our patient....

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Journal Article 2014; 35(1): 1-6 PubMed PMID: 24625909 Citation  Keywords:  Attention Deficit Disorder with Hyperactivity:complications, Central Nervous System Stimulants:adverse effects, Child, Child Development:drug effects, Growth:drug effects, Humans,.   

: Attention deficit hyperactivity disorder (ADHD) is one of the most commonly diagnosed childhood psychiatric disorders. It is manifested in every part of an affected child's behavior, with multiple symptomatology and heterogenous etiology. Published studies report that ADHD children may show changes in growth and development. Most of the studies on ADHD have been focused on connections between medication and growth changes and describe growth delays associated with medication. However, recent research results point to the low significance of the changes accompanying pharmacological treatment. Changes in growth may not only be a secondary effect of the treatment, but may also be specific characteristics of ADHD....

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Case Reports 2013; 34(8): 763-766 PubMed PMID: 24522023 Citation  Keywords:  Adult, Central Nervous System Depressants:administration & dosage, Female, Fertility:drug effects, Humans, Male, Melatonin:administration & dosage, Pineal Gland:surgery, Pregnancy, Semen:drug effects, Sleep Disorders, Circadian Rhythm:drug therapy,.   

OBJECTIVES: Little is known about the effect of chronic melatonin treatment on human reproductive function. We report here on the effect of 10 months treatment with a controlled-release melatonin preparation (Circadin®, 2 mg) on spermatogenesis and gonadotropic hormone status in a pinealectomised patient whose melatonin secretion was abolished.

METHODS: Semen analysis, hormone (Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH), inhibin B, prolactin, testosterone and estradiol) and Sex Hormone-Binding Globulin (SHB G) concentrations were determined before and at the end of 4 and 10 months of, treatment.

RESULTS: At the end of treatment, testosterone, sex hormone-binding globulin, prolactin and inhibin B levels did not display significant variation with time, whereas FSH and LH levels showed a tendency to a decrease, but remained in the normal range. Sperm concentration and total spermatozoa count dropped below the lower limit of the reference range during melatonin treatment, whereas motility and normal form percentages remained in the normal range. Fertility was preserved, since the patient's wife became pregnant during month 10 of melatonin treatment and gave birth to a healthy female baby.

CONCLUSIONS: this isolated clinical observation shows that more investigations in large patient series are needed to document possible side-effects of melatonin administration on male reproductive function. One should therefore be cautious about melatonin prescription for circadian rhythm sleep disorders in young males....

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Journal Article 2013; 34(7): 643-647 PubMed PMID: 24463994 Citation  Keywords:  Action Potentials:physiology, Adult, Electrophysiology, Female, Humans, Hyperlipidemias:complications, Male, Median Nerve:physiology, Middle Aged, Neural Conduction:physiology, Peripheral Nervous System Diseases:complications, Peroneal Nerve:physiology, S.   

OBJECTIVES: Metabolic disease affect all systems in the body, including the peripheral nervous system, but there is a controversy as whether to consider hyperlipidemia is a cause of peripheral neuropathy. The aim of the present study was to evaluate whether hyperlipidemic subjects with no clinical symptom or sign of peripheral neuropathy showed nerve conduction abnormalities or subclinical peripheral neuropathy according to the universally accepted electrophysiological criteria.

METHODS: The study group consisted from 29 female and 16 male patients (mean age: 47±7) while the control group consisted from 22 female and 10 male healthy volunteer subjects with a mean age of (43±9). All participants underwent an electrographic study in the classical manner described in the literature. Median and ulnar nerves in one upper, peroneal posterior tibial and sural nerves were studied in both lower extremities.

RESULTS: Median nerve 2nd digit-wrist segment sensory nerve conduction velocity were slow and sensory nerve action potential amplitude (SNAP) were low relative to controls. Sural nerve sensory nerve conduction velocity in the lower extremities were low relative to controls.

DISCUSSION: In this study the hyperlipemic group consisted from subjects with a relatively young age and with not very high serum lipid levels. Finding abnormal nerve conduction in distal sensory nerves in both upper and lower extremities in these hyperlipidemic patients made us think that; aging or uncontrolled hyperlipidemia may make these subjects susceptible to generalized peripheral neuropathy in the future.

CONCLUSION: Hyperlipidemia may affect nerve conduction in peripheral nerves and precede peripheral neuropathy....

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Journal Article 2013; 34(Suppl 2): 25-30 PubMed PMID: 24362089 Citation  Keywords:  Adolescent, Adult, Central Nervous System Agents:poisoning, Czech Republic:epidemiology, Databases, Factual, Drug Overdose:epidemiology, Drug-Related Side Effects and Adverse Reactions:diagnosis, Female, Humans, Information Centers:statistics & numerical .   

OBJECTIVES: To analyze the number and trends in calls to the Toxicological Information Center (TIC) concerning pharmaceutical poisoning retrospectively during the past 15 years and to compare selected characteristics of the poisonings.

DESIGN: Inquiries arising from drug poisonings in the years 1997-2012 were extracted and evaluated from the Czech database recording the consultations of TIC specialists. In addition, their cause, severity and dose evaluation (data electronically collected after 2005) were compared in the years 2005-2012 using standard statistical methods.

RESULTS: During 15 years total 152,649 calls due to all types of potentially toxic agents were recorded in the TIC database. Central nervous system (CNS) affecting drugs represented 39.8% of calls due to all pharmaceutical poisonings. The proportion of adults was 72.2% and women comprised 64.4% of all patients. Whereas the number of calls caused by poisoning with tricyclic antidepressants (TCAs) and barbiturates decreased (by 366.7% and 340%, respectively), the calls due to selective serotonin reuptake inhibitors (SSRIs) and benzodiazepines overdose increased (by 1347.4% and 359.8%). The dose of CNS affecting drugs in 2005-2012 was considered lethal in 14.6% of the inquiries due to barbiturates and 8.6% due to TCAs, but only in 1.6% calls due to SSRIs and 0.5% of benzodiazepines. The highest percentage of medications errors was found during the treatment with barbiturates (16.4%).

CONCLUSIONS: The current drugs prescription with improved safety profiles brings the beneficial effect of lowering the severity of poisonings and better prognosis of intoxications as observed in the TIC statistics....

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