18 research outputs found

    Unilateral Subdural Hematoma Caused by Epidural Anesthesia: A Case Report

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    A 22-year-old woman who had headache and numbness on the right side of the face, arm, and leg (transient ischemic attack-like) was admitted to the clinic. She had given birth by epidural anesthesia 8 days previously. A subdural hematoma was detected by means of neuroimaging. Spontaneous remission was followed up clinically and radiologically. The complications of epidural anesthesia were discussed, and the awareness of clinicians regarding this matter is pointed out

    Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

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    PubMedID: 25033069Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Objective: We aimed to provide insight into the disease mechanism in GHS.Methods: We studied a cohort of 6 multiplex families with GHS through autozygosity mapping and whole-exome sequencing.Results: We identified 6 patients from 3 independent families carrying loss-of-function mutations in PNPLA6, which encodes neuropathy target esterase (NTE), a lysophospholipase that maintains intracellular phospholipid homeostasis by converting lysophosphatidylcholine to glycerophosphocholine. Wild-type PNPLA6, but not PNPLA6 bearing these mutations, rescued a well-established Drosophila neurodegenerative phenotype caused by the absence of sws, the fly ortholog of mammalian PNPLA6. Inhibition of NTE activity in the LßT2 gonadotropecell line diminished LH response to GnRH by reducing GnRH-stimulated LH exocytosis, without affecting GnRH receptor signaling or LHß synthesis.Conclusion: These results suggest that NTE-dependent alteration of phospholipid homeostasis in GHS causes both neurodegeneration and impaired LH release from pituitary gonadotropes, leading to nHH. Copyright © 2014 by the Endocrine Society.National Science Foundation: IOS112169

    The role of oxidative stress markers in the pathophysiology of migraine and after treatment

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    Introduction: In this study, we investigated whether oxidant and antioxidant levels have a role in the pathophysiology of migraine and whether these measurements can be used effectively in the follow-up treatment.Materials and Methods: Thirty-one patients were admitted to the emergency department because of migraine attack and 30 healthy volunteers were enrolled in the study. The treatment was initiated with metoclopramide, and total antioxidant status (TAS), thiol, paraoxonase (PON), stimulated paraoxonase (St PON), arylesterase (ARE), and total oxidant status (TOS) were evaluated with the samples that were collected at the time of admission and at 30th and 60th minutes. Oxidative Stress Index (OSI) was calculated. Intensity of pain was assessed by the Visual Analogue Scale (VAS), simultaneously with sample collection. The results of patients were compared with those of healthy volunteers.Results: In the samples of patients collected at the time of admission, thiol and ARE levels were significantly low (226.6 ± 29 vs. 170.2 ± 52.2, P = 0.000 and 339.3 ± 47.9 vs. 278.0 ± 44.8, P = 0.000) and TOS and OSI were significantly high (2.1 ± 0.5 vs. 3.0 ± 1.8, P = 0.000 and 1.1 ± 0.3 vs. 1.6 ± 1.0, P = 0.000) when compared with the control group. There was no significant change in the levels of TAS, PON, and St PON (1.9 ± 0.3 vs. 1.8 ± 0.3, P = 0153 and 210.5 ± 135.9 vs. 164.5 ± 101.6, P = 0139 and 512.5 ± 353.3 vs. 419.8 ± 276.5, P = 0.262). VAS scores at 30th and 60th minutes were significantly decreased when compared with those at the time of admission. However, there was no correlation between the decrease in VAS score and TAS, thiol, PON, St PON, ARE, and TOS and OSI levels (P >0.05).Conclusions: The effect of oxidative stress in the pathophysiology of migraine is more likely to be an oxidant. These parameters alone are not sufficient to explain the pathophysiology of migraine because no significant changes were observed in either of antioxidant and oxidant levels, whereas a significant improvement in pain was achieved after the treatment of patients. Therefore, these results suggest that there are more than one mechanism in the pathophysiology of migraine. Copyright © 2013 by Lippincott Williams & Wilkins

    Do adipofascial flaps affect the mechanical properties of a repaired tendon? A biomechanical rat model study

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    The aim of this study was to evaluate the effect of vascularized and non-vascularized fascial flaps on tendon healing, specifically the maximum strain, maximum stress, elasticity and resistance of the repaired tendon. Rats were randomly divided into 3 groups: Group 1 – primary repair; Group 2 – vascularized pedicled fascial graft; Group 3 – non-vascularized free fascial graft. The rats were euthanized after 2 weeks and 40 mm-long samples were taken from the Achilles tendon and gastrocnemius muscle. To evaluate the mechanical properties of the tendons, maximum load, maximum deformation, energy stored until yield point and stiffness on the load-deformation curve were measured. Based on this mechanical testing, the best group in terms of tissue strength and quality was the primary repair group. When the samples were examined individually, the two samples with the highest breaking force after the control group were in the pedicled graft group. The worst results overall were in the free graft group. We believe that if the blood flow is preserved for the fascial flap in the pedicled graft group, the tendon's breaking force would be higher. © 2019 SFC

    A database for screening and registering late onset Pompe disease in Turkey

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    The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. © 2017 Elsevier B.V
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