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Case Reports 2016; 37(4): 265-268 PubMed PMID: 27857041 Citation  Keywords:  Charcot-Marie-Tooth Disease:complications, Child, Humans, Male, Myelin Proteins:genetics, Narcolepsy:complications, Neural Conduction, Polysomnography,.   

: We report an 8-year-old boy diagnosed with both CMT1 and narcolepsy, which were not reported simultaneously presenting in one person. The boy presented with a history of increased suddenly falling frequency and excessive daytime sleepiness for 3 months. CMT1 was diagnosed by electrophysiology and genetic testing. Narcolepsy had not been diagnosed until the frequently falling caused by sudden and transient episodes of legs weakness triggered by emotion was found. Multiple sleep latency test showed multiple sleep onset REM periods with reduced sleep latency. When CMT1 and narcolepsy were coexist in an individual, the latter might be overlooked. Cataplexy caused by narcolepsy might be disregard as distal muscle weakness of CMT1. The daytime sleepiness might also be ignored. Therefore, we recommend that patients with sleep disorders should be queried about the symptoms of narcolepsy....

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Journal Article 2016; 37(3): 233-238 PubMed PMID: 27618608 Citation  Keywords:  Adolescent, Adult, Aged, Child, Endoscopy, Female, Follow-Up Studies, Humans, Hydrocortisone:blood, Male, Middle Aged, Monitoring, Physiologic, Neurosurgical Procedures:methods, Pituitary ACTH Hypersecretion:blood, Pituitary Gland:surgery, Postoperative C.   

INTRODUCTION: To increase radicality and avoid surgical complications new treatment options are under investigation. One of the promising possibilities is to assess early morning cortisol levels on the first and second postoperative day.

MATERIAL AND METHODS: We enrolled 34 patients (9 males, 25 females) diagnosed with Cushing's disease. Blood samples to determine cortisol level were taken always at 06:00 and sent to the lab. The samples were taken on the first and second postoperative day. For all patients, standard four-handed, a bi-nostril endoscopic endonasal technique was used. Endocrinological follow-up (6-34 months) was performed using morning cortisol sampling.

RESULTS: In total, 36 patients (88%) were disease-free post-surgery. In the group with early postoperative levels of morning cortisol of less than 463 nmol/L, only 2 of 29 patients (7%) exceeded the final morning level of cortisol at follow-up. In patients with early postoperative cortisol levels between 17 nmol/l and 234 nmol/l all subjects showed normal postoperative cortisol levels.

DISCUSSION: In 30 of 34 patients (88%), the level of cortisol was within normal limits. The prediction importance of early measurement of cortisol is 93% for patients with early postoperative cortisol levels of less than 463 nmol/L. The prediction importance of early measurement of cortisol is 100% for patients with early postoperative cortisol levels from 17 to 234 nmol/L.

CONCLUSION: The monitoring of early morning cortisol levels seems to be an important tool in the management of central Cushing's disease....

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Journal Article 2016; 37(3): 193-201 PubMed PMID: 27618607 Citation  Keywords:  Adult, Cervical Cord:injuries, Female, Follow-Up Studies, Humans, Longitudinal Studies, Lung Diseases:etiology, Male, Middle Aged, Muscle Strength, Prospective Studies, Quadriplegia:etiology, Respiratory Function Tests, Respiratory Muscles:physiopathology.   

OBJECTIVES: Respiratory complications are most common cause of morbidity/mortality in patients with cervical spinal cord injury (cSCI) due to respiratory muscle weakness and lower diaphragm position resulting in limited availability of inspiration, reduced thorax mobility and limited forced expiration. Differences in respiratory dysfunctions (RDs) in patients with motor complete versus incomplete cSCI were assessed.

DESIGN: Prospective longitudinal study, serial measurement.

SETTING: University hospital and ambulatory departments.

METHODS: Twenty two patients with acute cSCI were recruited. Neurological level of injury and severity according to ISNCSCI were used as criteria for recruitment. Patients were divided into two groups - motor complete and incomplete. Standardized pulmonary function tests (PFT) were used - spirometry and respiratory muscle strength (RMS) measurement. Motor score of key muscles assessments for upper (UEMS) and lower (LEMS) limbs were used. Tests were performed in 5 measurement sessions starting on (medians) 14.5 days (M1), then 6.7 weeks, 3.2 months, 6.3 months and 1.0 year (M5).

RESULTS: Significant differences in measurement sessions M2-M5 between groups in forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), expiratory reserve volume (ERV), maximal static inspiratory/expiratory pressures (MIP, MEP) and UEMS were proved. Consequently, prominent differences in courses of particular parameters were found. No intergroup changes in UEMS were found during study.

CONCLUSIONS: Obvious differences in parameters of spirometry, respiratory muscles and limb muscles strength between motor complete and incomplete group were found. Carefull monitoring of RDs by functional assessments (i.e., PFT and UEMS/LEMS tests) within one year after SCI seems to be clinically important....

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Journal Article 2016; 37(3): 202-206 PubMed PMID: 27618606 Citation  Keywords:  Animals, Area Under Curve, Beverages, Chromatography, High Pressure Liquid, Female, Food-Drug Interactions, Glycyrrhiza, Hypoglycemic Agents:pharmacokinetics, Male, Metformin:pharmacokinetics, Punicaceae, Rats, Rats, Sprague-Dawley, Reproducibility of Res.   

OBJECTIVES: Food or drinks may significantly alter the pharmacokinetics and pharmacodynamics of drugs which may lead to adverse events. A drug such as metformin is widely used to regulate plasma glucose level and pomegranate and licorice have been identified to help in type-2 diabetes management. However, the interactions of the latter on metformin pharmacokinetics were not studied. Therefore, we aimed here to study the impact of pomegranate and licorice on metformin pharmacokinetics in rats.

METHODS: Juices were given to rats for two days and half an hour before metformin (20 mg/kg) oral administration. Blood samples, then, were collected at different time intervals, processed and analyzed using validated reliable HPLC method. Plasma profile and pharmacokinetic parameters were calculated for each group.

RESULTS AND CONCLUSION: Pre-administration of pomegranate significantly reduced metformin maximum plasma concentration from 1410 to 1031 ng/ml. On the other hand, pre-administration of licorice significantly delayed metformin reaching its maximum plasma concentration. In conclusion, pre-administration of pomegranate may potentially reduce efficacy of metformin while licorice might delay metformin action. Thus, both juices should be cautiously administrated with metformin, the mainstay drug for type-2 diabetes mellitus management....

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Journal Article 2016; 37(3): 217-225 PubMed PMID: 27618601 Citation  Keywords:  Adolescent, Animals, Apoptosis:radiation effects, Capillaries:radiation effects, Cell Proliferation:radiation effects, Child, Collagen:radiation effects, Female, Fibroblasts:radiation effects, Humans, Ligaments:radiation effects, Lung:radiation effects, L.   

OBJECTIVES: In this paper we study effects of irradiation to pulmonary tissue on a micro and ultrastructural level to get insights into the dynamics of morphological changes and associated post-radiative physiological conditions.

METHODS: Animal and human pulmonary tissue with and without radiation damage was subject to light, transmission, scanning and polarization microscopy and morphometric evaluation.

RESULTS: The present investigations on the influence of irradiation on experimental and human lung tissue demonstrate that complex changes are induced in the cells which are essential for mucociliary clearance. These changes are a shortage of alveolar macrophages, cell apoptosis, proliferation of collagen ligament in the barrier of gaseous exchange, retraction of endothelial lining of capillaries and significant broadening of the gaseous exchange barrier, resulting in serious damage for the O2 and CO2 exchange.

CONCLUSIONS: These changes at microscopic, cellular, and ciliary level trigger conditions for various diseases of the respiratory system, which is further assessed by a simultaneous computer aided estimation of ciliary function. With the concurrent world-wide increase of respiratory diseases, these findings are important knowledge for the clinical practice....

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Comparative Study 2016; 37(1): 65-69 PubMed PMID: 26994388 Citation  Keywords:  Adolescent, Adult, Aged, Case-Control Studies, Child, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Membrane Transport Proteins:genetics, Middle Aged, Protein Tyrosine Phosphatase, Non-Receptor Type 22:genetics, Receptors, Immunologic.   

BACKGROUND: Numerous genetic studies revealed several susceptibility genes of autoimmune thyroid diseases (AITD), including CTLA4, PTPN22 and FCRL3. These immune-modulating genes are involved in genetic background of AITD among children and adult patients. However, possible age-related differences in overexpression of these genes remain unclear.

PURPOSE: The goal of this single centre cohort study was evaluation of expression levels of three (3) genes CTLA4, PTPN22 and FCRL3 in adult patients and children with autoimmune thyroiditis.

METHODS: A total of 47 patients--24 adults (mean age--47.7 years) and 23 children (mean age--12.4 years) with autoimmune thyroiditis were assessed for the level of expression of CTLA4, PTPN22 and FCRL3 genes, utilizing ABI PRISM' 7500 Sequence Detection System (Applied Biosystem, Foster City, CA, USA).

RESULTS: The overexpression of PTPN22 (mean RQ = 2.988) and FCRL3 (mean RQ = 2.544) genes were confirmed in adult patients with autoimmune thyroiditis, at the same time the expression level of CTLA4 gene was significantly decreased (mean RQ = 0.899) (p < 0.05). Similar discrepancies were not observed in children with autoimmune thyroiditis in whom overexpression of all three genes--CTLA4, PTPN22 and FCRL3--was observed. Differences in CTLA4 and FCRL3 genes expression levels in patients with autoimmune thyroiditis were found depending on the age, with increased expression levels of CTLA4 (mean RQ = 3.45 1) and FCRL3 (mean RQ = 7.410) in children when compared to adults (p < 0.05) (Mann-Whitney's U-test). There were moderate negative linear correlations between two genes in question (CTLA4 and FCRL3) expression level and patients' age [correlation coefficient (r) = -0.529 (p < 0.0002) and -0.423 (p < 0.0032), respectively; Spearman's rank correlation test].

CONCLUSION: Our results are consistent with the hypothesis that there are few age-dependent genetic differences as regards autoimmune thyroiditis in adults and children. Accordingly, CTLA4 and FCRL3 genes overexpression may play an important role in children suffering from autoimmune thyroiditis....

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Journal Article 2016; 37(1): 41-45 PubMed PMID: 26994384 Citation  Keywords:  Animals, Astrocytes:metabolism, Estrous Cycle:metabolism, Female, Glial Fibrillary Acidic Protein:metabolism, Immunohistochemistry, Oxytocin:metabolism, Rats, Rats, Sprague-Dawley, Supraoptic Nucleus:metabolism,.   

OBJECTIVE: Oxytocin (OXT) could facilitate preovulatory luteinizing hormone surge in animals and humans while brain OXT production depends on glial fibrillary acidic protein (GFAP)-associated astrocytic plasticity. Here, we examined if GFAP expressions in OXT-producing hypothalamic supraoptic nucleus (SON) correlate to special estrous stages.

METHODS: 38 adult female rats were classified into diestrus, proestrus, estrus, and metestrus groups determined by vaginal smear. Rats were decapitated and the SON was dissected for detecting Fos and GFAP levels by Western Blot and immunohistochemistry.

RESULTS: The result showed that Fos expression was significantly high at proestrus compared to other stages in Western blotting. No significant difference in total GFAP expression was observed between rats at different stages of the estrous cycle; however, at proestrus GFAP level at the dorsolateral portion of the SON (a region filled with OXT neurons) was significantly lower than that at the ventro-medial portion in immunohistochemistry.

CONCLUSION: There is a functional correlation between supraoptic neuron activity and proestrous OXT peak during estrous cycle; it is likely that a plastic change in GFAP expression in astrocytes selectively occurs around OXT neurons at proestrus and facilitates OXT release....

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Journal Article 2015; 36(8): 767-770 PubMed PMID: 26921577 Citation  Keywords:  Androgens:pharmacology, Animals, Female, Gonadotropin-Releasing Hormone:drug effects, Hypothalamus:drug effects, Kisspeptins:drug effects, Neuropeptides:drug effects, RNA, Messenger:drug effects, Rats, Rats, Sprague-Dawley, Receptors, G-Protein-Coupled:dr.   

OBJECTIVE: The neonatal and/or prepubertal androgen milieu affects sexual maturation. In rodents, neonatal chronic testosterone treatment, which is used as a model of polycystic ovary syndrome (PCOS), results in the onset of vaginal opening occurring earlier in the pubertal period.

DESIGN: In the present study, the changes in hypothalamic Kiss1 (a gonadotropin-releasing hormone (GnRH)-stimulating factor) and RF-amide related peptide (RFRP; a GnRH inhibitory factor) mRNA expression induced by testosterone treatment were examined in order to clarify whether these factors are involved in the testosterone-induced acceleration of sexual maturation.

RESULTS: The onset of vaginal opening occurred earlier and uterine weight was increased in female rats subjected to chronic (from postnatal day 23 to day 31) testosterone treatment. Contrary to our expectations, the rats' hypothalamic Kiss1 and Kiss1 receptor mRNA levels were not changed, and their serum luteinizing hormone (LH) levels were decreased. Although hypothalamic RFRP mRNA expression was decreased in the testosterone-treated rats, this change was not reflected in their serum LH levels.

CONCLUSIONS: These results indicate that the advancement of sexual maturation observed in chronic testosterone-treated rats might be caused by a peripheral, rather than a central, mechanism....

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