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1.
Turk J Ophthalmol ; 54(2): 103-107, 2024 Apr 19.
Article in English | MEDLINE | ID: mdl-38645833

ABSTRACT

Facial burns involving the periorbital region may lead to cicatricial ectropion and lagophthalmos, causing severe exposure keratopathy and eventually blindness if uncorrected. In these patients, it is critical to provide aesthetic and functional surgical correction to protect the ocular surface from chronic desiccation in addition to visual rehabilitation. Conventional methods may not be sufficient to provide visual rehabilitation in complex cases. Scleral lenses can be a multipurpose alternative for these patients. Herein, we present the challenging case of a patient who developed cicatricial lagophthalmos and exposure keratopathy after facial transplantation due to gasoline burns and received a scleral contact lens for visual rehabilitation.


Subject(s)
Contact Lenses , Sclera , Humans , Sclera/surgery , Corneal Transplantation/methods , Visual Acuity , Chronic Disease , Eye Burns/complications , Eye Burns/surgery , Eye Burns/diagnosis , Burns, Chemical/surgery , Burns, Chemical/complications , Male , Eyelid Diseases/surgery , Eyelid Diseases/etiology , Female , Lagophthalmos
2.
Turk J Ophthalmol ; 54(1): 46-48, 2024 Feb 22.
Article in English | MEDLINE | ID: mdl-38385320

ABSTRACT

A 56-year-old man was referred to our clinic for unilateral nodular scleritis unresponsive to systemic corticosteroids. A localized, nodular hyperemia on the nasal bulbar conjunctiva surrounding a central cyst-like lesion together with vascular engorgement was observed on slit-lamp examination of the left eye. No abnormal fundoscopic findings were noted. Surgical exploration revealed an embedded episcleral brown colored, soft to touch, splinter-like organic foreign body (FB) which was confirmed by the histopathological examination. Nodular hyperemia resolved during the postoperative follow-up period, and mild scar tissue accompanied by scleral thinning developed in the left nasal bulbar conjunctiva. Ocular injury associated with FBs may cause significant ocular morbidity depending on the nature and location of the FB. Severe visual disability may occur if left untreated. Subconjunctival FBs are rare and may present with a clinical picture mimicking episcleritis or scleritis. History of trauma involving a FB should always be assessed for an accurate differential diagnosis and appropriate management of patients with anterior scleritis.


Subject(s)
Foreign Bodies , Hyperemia , Scleritis , Male , Humans , Middle Aged , Scleritis/diagnosis , Hyperemia/drug therapy , Sclera , Glucocorticoids/therapeutic use , Foreign Bodies/drug therapy
3.
Regul Toxicol Pharmacol ; 132: 105191, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35613671

ABSTRACT

Pinus halepensis Mill. seed (Pinaceae), popularly known as 'Zgougou', is widely consumed in the Mediterranean countries and used traditionally in the treatment of some diseases such as bronchitis, rheumatism, infection, and inflammation. The present study aimed to evaluate the oral safety of cold pressed oil of Pinus halepensis Mill. seeds (COPHS) by acute and 28-day repeated dose toxicities studies in Wistar mice and rats, respectively. In the acute toxicity study, oral administration of COPHS to mice did not provoke mortality or any toxic signs at doses up to 5000 mg/kg bw. After administration of COPHS at doses of 250, 500, and 1000 mg/kg bw/day for 28 days, no abnormal changes were observed in body weight, water intake, food consumption, organ weight, blood haematological, serum biochemistry parameters, and histology profile. Furthermore, there was no animal death or any symptom of toxicity in any group during sub-acute toxicity test period. Our findings demonstrate that COPHS is relatively non-toxic and has a large safety margin (>5000 mg/kg). The results of the present research provide basic reference data for food consumption and for future in vivo screening of biological and pharmacological properties of cold pressed oil of Pinus halepensis Mill. seeds.


Subject(s)
Pinus , Animals , Mice , Pinus/chemistry , Plant Extracts , Plant Oils/toxicity , Rats , Rats, Wistar , Seeds/chemistry , Toxicity Tests, Acute
5.
Ophthalmol Ther ; 10(4): 957-972, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34487319

ABSTRACT

INTRODUCTION: To evaluate patient satisfaction with samfilcon A contact lenses (CLs) in intensive digital device users with myopia and to compare patient satisfaction with samfilcon A lenses to prior experience with senofilcon A or lotrafilcon B CLs. METHODS: This was a comparative, prospective, national study conducted at 14 centers in Turkey. Subjects were adults aged 18 and 45 years with myopia (range -0.25 D to -6.00 D) who spend a minimum of 3 hours viewing digital devices (e.g., computer, smartphone). A subgroup of patients were habitual lens wearers (senofilcon A or lotrafilcon B lens wear for at least 6 months prior to enrollment). The primary assessment was patient satisfaction with samfilcon A lenses (0-100 Likert scale). Secondary assessments included patient satisfaction with samfilcon A lenses compared to patients' habitual lenses, investigator satisfaction with samfilcon A lenses and investigator-evaluated slit lamp examination findings. RESULTS: Samfilcon A lenses were given high overall ratings from both patients and investigators, with a low incidence of ocular symptoms. Overall, patients were highly satisfied with samfilcon A lenses for comfort, vision and overall performance, and stated that they would consider wearing these lenses in the future. Among habitual senofilcon A or lotrafilcon B lens wearers, samfilcon A lenses were rated significantly better than the habitual lenses in regard to comfort, vision and overall performance. Investigator assessments were also highly favorable, both at initial fit and after 4 weeks of follow-up, with no significant findings noted on slit lamp examination. CONCLUSION: Samfilcon A lenses were rated highly by investigators in regard to fit, handling and slit lamp findings, and by novice and habitual lens wearers in regard to comfort, vision and overall performance. These results support the use of samfilcon A lenses among digital device users who seek day-long comfort and good visual acuity.

6.
Mol Vis ; 22: 138-49, 2016.
Article in English | MEDLINE | ID: mdl-26937166

ABSTRACT

PURPOSE: To determine the corneal regenerative capacity of sequentially generated primary, secondary, and tertiary limbal explant outgrowths in a limbal stem cell deficiency (LSCD) surgical model. METHODS: Two-millimeter-long limbal shallow biopsies were surgically excised from the upper quadrant of the right eye of rabbits and set on preserved amniotic membrane for explant culture. After the generation of primary outgrowth, the biopsies were sequentially transferred to new amniotic membrane to generate secondary and then tertiary outgrowths. Eighteen rabbits were subjected to a 360° limbal peritomy extending into the scleral zone and combined with superficial keratectomy of the corneal periphery and thorough mechanical debridement of the central cornea in their left eye. Right eye outgrowths, six of each generation, were engrafted on the ocular surface. Clinical outcomes (neovascularization, corneal clarity, and corneal fluorescein staining) were graded after 6 months. Post-mortem corneas were compared with histology, immunochemistry for p63 and Krt3, ABCG2-dependent dye exclusion, and capacity for outgrowths in explant culture. RESULTS: Immunohistology and western blot of the outgrowths for p63 and Krt3 indicated no differences in expression between the primary and tertiary outgrowths for these two markers of growth and differentiation. Clinically, all rabbits treated with amniotic membrane alone developed severe LSCD. Most rabbits grafted with cell outgrowths from all three outgrowth generations achieved stable (>6 months) recovery of the ocular surface. There were partial failures of grafts performed with two secondary and tertiary outgrowths. However, Kruskal-Wallis statistical analysis of the clinical scores yielded no significant difference between the three groups (p=0.524). Histology showed full anatomic recovery of grafts made with primary and tertiary outgrowths. Krt3 and p63 expression throughout the whole limbal corneal epithelium with primary or tertiary outgrowths was not distinguishable from each other. The percentage of dye-excluding cells present within this zone and the capacity of the explant epithelial outgrowth of the regenerated peripheral corneal zone were also on par with those of the donor corneas. The Krt3-negative cells that characterize the basal epithelial layer of the normal limbus could not be found in any regenerated cornea from the primary to tertiary outgrowths. CONCLUSIONS: Our results demonstrate that in rabbits post-primary explant outgrowths retain the capacity for LSCD recovery found in primary explants.


Subject(s)
Cornea/physiology , Corneal Diseases/therapy , Disease Models, Animal , Epithelium, Corneal/cytology , Limbus Corneae/pathology , Stem Cell Transplantation , Stem Cells/pathology , Amnion , Animals , Biopsy , Blotting, Western , Cell Culture Techniques , Corneal Diseases/physiopathology , Epithelium, Corneal/metabolism , Flow Cytometry , Humans , Immunohistochemistry , Keratin-3/metabolism , Rabbits , Recovery of Function/physiology , Regeneration/physiology , Tissue Scaffolds , Transcription Factors/metabolism , Transplantation, Autologous
7.
Neurosci Lett ; 615: 72-7, 2016 Feb 26.
Article in English | MEDLINE | ID: mdl-26806867

ABSTRACT

Parkinson's disease (PD) is a neurodegenerative disorder characterized by progressive degeneration of the dopaminergic neurons in substantia nigra, presumably due to increased apoptosis and oxidative stress. To investigate whether PD-induced survival/apoptosis gene expression changes can serve as prognostic biomarkers of PD, we measured expression levels of phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K)/Akt pathway factors and additional apoptotic and anti-apoptotic factors in peripheral blood mononuclear cells (PBMC) of PD patients (n=50) and healthy controls (n=50) by real time PCR. Expression levels of apoptotic factors phosphatase and tensin homolog (PTEN) and mitochondrial apoptosis-inducing factor 1 (AIFM1) were significantly decreased, anti-apoptotic factors DJ-1 and Akt-1 were significantly increased and anti-apoptotic Bcl-2 was significantly decreased in PD patients. Expression levels of AIFM1 were significantly correlated with Hoehn-Yahr scores. Moreover, PD patients with postural instability showed significantly reduced expression levels of anti-apoptotic DJ-1, Akt-1 and mTOR than PD patients without postural instability. Expression profiles of brain samples of mice with rotenone-induced PD model and PBMC samples of PD patients showed remarkable resemblance. Our results indicate that the anti-apoptotic PI3K/Akt pathway is over activated in PD, presumably as an effort to compensate for increased neuronal apoptosis and oxidative stress. By contrast, patients with postural instability show reduced anti-apoptotic factor expression suggesting that this compensating mechanism fails in patients with this particular motor symptom. PBMC expression levels of AIFM1 might serve as a biomarker of disability and disease progression in PD.


Subject(s)
Apoptosis/genetics , Parkinson Disease/metabolism , Parkinson Disease/pathology , Aged , Animals , Apoptosis Inducing Factor/metabolism , Biomarkers/metabolism , Brain/metabolism , Case-Control Studies , Caspase 3/metabolism , Caspase 9/metabolism , Female , Humans , Leukocytes, Mononuclear/metabolism , Male , Mice, Inbred C57BL , Middle Aged , PTEN Phosphohydrolase/metabolism , Parkinson Disease/etiology , Phosphatidylinositol 3-Kinases/metabolism , Proto-Oncogene Proteins c-akt/metabolism , Proto-Oncogene Proteins c-bcl-2/metabolism , Rotenone , Signal Transduction
8.
Article in English | MEDLINE | ID: mdl-28289688

ABSTRACT

This case report involves a 32-year-old man with Behçet's disease who had simultaneous bilateral anterior uveitis, unilateral nodular scleritis, and occlusive vasculitis with retinal hemorrhages. Although scleritis is not a classical feature of Behçet's disease, a diagnosis of Behçet's disease should be considered in patients with scleritis.

9.
Article in English | MEDLINE | ID: mdl-28293659

ABSTRACT

We describe a 66-year-old man who developed bilateral choroidal detachment that was induced by unilateral topical administration of a fixed combination of 1% brinzolamide and 0.5% timolol maleate the day after an uneventful phacoemulsification surgery and intraocular lens implantation involving his right eye. We believe that the reaction was an idiosyncratic reaction, most likely against brinzolamide. The condition improved rapidly after the cessation of the fixed combination of brinzolamide and timolol maleate and treatment with 1% topical prednisolone acetate every hour and 1% cyclopentolate twice a day bilaterally. Although there are several similar cases involving choroidal detachment after oral acetazolamide and topical dorzolamide treatment mentioned in the literature, the present case is the first case report involving bilateral choroidal detachment after topical treatment with brinzolamide.

10.
Ophthalmic Surg Lasers Imaging ; 43(6 Suppl): S97-102, 2012.
Article in English | MEDLINE | ID: mdl-22938631

ABSTRACT

BACKGROUND AND OBJECTIVE: To evaluate the changes in central corneal thickness (CCT), anterior chamber depth (ACD), and iridocorneal angle (ICA) with anterior segment optical coherence tomography (AS-OCT) following scleral buckling surgery. PATIENTS AND METHODS: Thirty-one eyes with rhegmatogenous retinal detachment that underwent scleral buckling were included in this prospective study. Changes in CCT, ACD, and ICA were measured with AS-OCT. RESULTS: There was a significant increase in the CCT at 1 day and 1 week postoperatively. CCT became slightly thinner than the preoperative values at 1 month postoperatively. The ACD was relatively shallow at all visits after the surgery. The decrease in the ICA 0° and 180° values was statistically significant at 1 day, 1 week, and 1 month postoperatively. CONCLUSION: Changes in the CCT and ICA after scleral buckling were mild and almost returned to their preoperative levels within 6 months. However, ACD shallowing persisted even after 6 months.


Subject(s)
Anterior Chamber/pathology , Cornea/pathology , Iris/pathology , Retinal Detachment/pathology , Scleral Buckling/adverse effects , Tomography, Optical Coherence/methods , Adult , Aged , Female , Humans , Male , Middle Aged , Postoperative Complications , Prospective Studies , Retinal Detachment/surgery , Young Adult
11.
Int J Ophthalmol ; 5(3): 374-6, 2012.
Article in English | MEDLINE | ID: mdl-22773991

ABSTRACT

AIM: To evaluate the effect of silicone oil removal(SOR) on central corneal thickness(CCT) in aphakic and pseudophakic eyes prospectively. METHODS: Patients who underwent SOR surgery between June 2005 - August 2007 were included in this study. Silicon oil was actively removed behind the posterior capsule through the pars plana sclerotomy site (posterior approach) in pseudophakic eyes and through the pupil and the corneal tunnel incision (anterior approach) in aphakic eyes with the 18-gauge cannula. CCT was assessed with Orbscan II corneal topography system preoperatively and at one month and three months postoperatively. A total of 34 eyes of 34 patients (26 males, 8 females) comprised the study group. Mean age was (55.6±12.3) years (Range: 25-80 years). Twenty-six eyes (76.5%) were pseudophakic and 8 (23.5%) aphakic. Mean time between silicone oil injection and removal was (15.1±13.6) months (Range: 5-54 months). At baseline, CCT was 576.4±46.0µm in pseudophakic eyes and 611.6±36.2µm in aphakic eyes. RESULTS: At the first postoperative month CCT was (573.3±40.1)µm and (630.9±72.9)µm in pseudophakic and aphakic eyes respectively. At the third postoperative month, CCT was (582.7±49.5)µm and (614.5±82.4)µm in pseudophakic and aphakic eyes respectively. There was no statistically significant difference in CCT measurements one month and 3 months after SOR when compared to preoperative values in both aphakic and pseudophakic eyes (P>0.05). CONCLUSION: Active SOR either by anterior or posterior approach did not affect the CCT.

12.
Int J Ophthalmol ; 5(1): 108-12, 2012.
Article in English | MEDLINE | ID: mdl-22553766

ABSTRACT

AIM: To evaluate the long-term results and complications of ahmed glaucoma valve (AGV) implantation in refractory glaucoma. METHODS: A retrospective review of 13 patients (13 eyes) with refractory glaucoma who underwent AGV implantation and had a minimum follow-up of 18 months was performed. All patients underwent a complete ophthalmologic examination and intraocular pressure (IOP) measurement before surgery and at 1 month, 3 months, 6 months, 1 year after surgery and yearly afterwards. Complications and the number of antiglaucoma medications needed were recorded. RESULTS: Mean age was 27.3±16.0 years. All eyes (100%) had at least one prior incisional surgery. Mean follow-up was 61.3±30.8 months. IOP was reduced from a mean of 35.0 ±7.0mmHg to 18.2±7.9mmHg at 12 months and to 17.0±4.1mmHg at 96 months (P<0.05) with a lower number of medications from baseline, 76.9% patients required additional procedures to achieve the success criteria set by previously published series. The most common complications were encapculated cyst formation in eight eyes (61.5 %) and tube exposure in four eyes (30.8%). CONCLUSION: Encapsulated cyst formation was the most common complication which hindered succesful IOP control after AGV implant insertion for refractory glaucoma. Despite cyst excision with anti-fibrotic agents, successful IOP reduction was not achieved in 76.9% of the patients without antiglaucoma medication.

13.
Arch Gynecol Obstet ; 285(3): 733-9, 2012 Mar.
Article in English | MEDLINE | ID: mdl-21877144

ABSTRACT

OBJECTIVES: Studies have consistently shown a lower cardiovascular risk in women who received postmenopausal hormone replacement therapy (HRT). DESIGN AND METHODS: In this study, the effects of HRT were investigated on plasma total homocysteine (tHcy) and the oxidant-antioxidant status in postmenopausal women. 35 of postmenopausal receiving (2 mg estrodiol valerate + 1 mg cyproterone acetate) HRT group, the remaining 25 received orally placebo (NHRT group). RESULTS: There was no significant change in plasma tHcy levels between HRT and NHRT groups. Malondialdehyde (MDA) and total thiol (t-SH) correlated significantly with tHcy (0.388 and 0.478, respectively) content, and there was a significant negative correlation between E2 level and glutathione transferase (GST) activity (-0.425) in HRT group. Superoxide dismutase (SOD) and HDL-C correlated significantly with t-SH level (0.339 and 0.336, respectively) in plasma after HRT. CONCLUSION: Our results show that HRT is beneficial in the protection against oxidative damage, and prevents atherosclerotic complications.


Subject(s)
Cyproterone Acetate/therapeutic use , Estradiol/analogs & derivatives , Estrogen Replacement Therapy , Homocysteine/blood , Adult , Estradiol/blood , Estradiol/therapeutic use , Female , Glutathione Transferase/blood , Humans , Malondialdehyde/blood , Middle Aged , Oxidative Stress/drug effects , Postmenopause/blood , Sulfhydryl Compounds/blood , Superoxide Dismutase/blood
15.
Thromb Haemost ; 105(3): 454-60, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21174000

ABSTRACT

Inherited severe hypoplasminogenaemia is a multisystemic disorder leading to deficient extravascular fibrinolysis. As a clinical consequence wound healing capacity of mucous membranes is markedly impaired leading to ligneous conjunctivitis and several other manifestations. Here we report the molecular genetic and clinical findings on 23 new cases with severe hypoplasminogenaemia. Homozygous or compound-heterozygous mutations in the plasminogen (PLG) gene were found in 16 of 23 patients (70%), three of which were novel mutations reported here for the first time (C166Y, Y264S, IVS10-7T/G). Compared to 79 previously published cases, clinical manifestations of the current group of patients showed higher percentages of ligneous periodontitis, congenital hydrocephalus, and involvement of the female genital tract. In contrast, involvement of the gastrointestinal or urogenital tract was not observed in any of the cases. Patients originated to a large extent (61%) from Turkey and the Middle East, and showed a comparably frequent occurrence of consanguinity of affected families and a greater female to male ratio than was derived from previous reports in the literature. Individual treatment of ligneous conjunctivitis included topical plasminogen or heparin eye drops, topical or systemic fresh frozen plasma, and surgical removal of ligneous pseudomembranes, mostly with modest or transient efficacy. In conclusion, the present study underscores the broad range of clinical manifestations in PLG-deficient patients with a trend to regional differences. Transmission of genetic and clinical data to the recently established Plasminogen Deficiency Registry should help to determine the prevalence of the disease and to develop more efficient treatment strategies.


Subject(s)
Mutation , Plasminogen/biosynthesis , Plasminogen/genetics , Blood Coagulation Disorders/genetics , Child , Child, Preschool , Female , Heterozygote , Humans , Hydrocephalus/genetics , Infant , Infant, Newborn , Male , Models, Biological , Pedigree , Periodontitis/genetics
16.
Int Ophthalmol ; 30(2): 221-7, 2010 Apr.
Article in English | MEDLINE | ID: mdl-19588077

ABSTRACT

The objective is to discuss the characteristics of three patients who developed sympathetic ophthalmia following vitreoretinal surgery. The first case was a 29-year-old man who underwent placement of an encircling band, pars plana vitrectomy, foreign body removal, endolaser photocoagulation, transscleral cryotherapy, and silicone oil injection due to a retained foreign body 3 months after a corneoscleral rupture repair. He experienced visual loss in the fellow eye 2 months after the vitrectomy. An extensive exudative detachment was detected in the fellow eye. Sympathetic ophthalmia was diagnosed and systemic steroids together with azathioprine were initiated. The injured eye was enucleated as there was no useful vision. The other two cases were operated for rhegmatogenous retinal detachments. One underwent placement of an encircling band, pars plana vitrectomy, silicone oil injection, and endolaser photocoagulation with good anatomic outcome. However, 4 months later, the fellow eye experienced severe visual loss with disc swelling and hyperemia and exudative retinal detachment. Systemic steroid was sufficient to reverse the process and the visual acuity recovered. The other case underwent placement of an encircling band, subretinal fluid drainage, SF(6) injection and 360 degrees indirect laser photocoagulation. Two years later, he noted a sudden visual decrease in the fellow eye in which we detected a Harada-like extensive exudative detachment. Systemic steroid without immunosuppressive therapy rendered regression of the detachment and recovery of good visual acuity. Sympathetic ophthalmia may occur following vitreoretinal surgery either for trauma-related problems or rhegmatogenous retinal detachment. Since it may present with relatively mild anterior segment findings and mainly posterior segment involvement; any visual disturbance in the fellow eye of a patient with a history of perforating trauma or vitreoretinal surgery should be thoroughly evaluated for sympathetic ophthalmia.


Subject(s)
Ophthalmia, Sympathetic/etiology , Postoperative Complications , Vitrectomy , Adolescent , Adult , Eye Enucleation , Eye Foreign Bodies/diagnostic imaging , Eye Foreign Bodies/pathology , Eye Foreign Bodies/surgery , Female , Fluorescein Angiography , Glucocorticoids/administration & dosage , Humans , Male , Middle Aged , Mydriatics/therapeutic use , Ophthalmia, Sympathetic/pathology , Ophthalmia, Sympathetic/therapy , Prednisolone/administration & dosage , Retina/pathology , Retina/surgery , Retinal Detachment/pathology , Retinal Detachment/surgery , Tomography, X-Ray Computed , Vitreous Body/pathology , Vitreous Body/surgery
17.
Mol Cell Biochem ; 325(1-2): 199-208, 2009 May.
Article in English | MEDLINE | ID: mdl-19219535

ABSTRACT

BACKGROUND: The aim of the present study was to investigate the association between genetic variants in metylenetetrahydrofolate reductase (MTHFR) and Paraoxonase-1 (PON1) 55/192 genes and total homocysteine (tHcy), folate, B12 vitamin, and PON1 levels in patients with coronary artery disease (CAD). METHODS: The study included 235 patients with CAD and 268 healthy control subjects. RESULTS: LL and LM genotypes and L allele of PON1 55 were over-represented in patients. In contrast, MM genotype and M allele were more frequent in controls. QQ genotype and Q allele of PON1 192 and CT genotype of MTHFR were significantly diminished and QR genotype and R allele were significantly elevated in CAD patients compared with controls. The plasma tHcy were elevated but B12 levels were diminished in patients. PON1 55 and 192 genetic variants were significantly associated with PON1 activity, triglyceride, total cholesterol, tHcy and, high-density lipoprotein-cholesterol and low-density lipoprotein-cholesterol in patients, respectively. CONCLUSION: Genetic variants of PON1 55/192 and MTHFR were associated with CAD.


Subject(s)
Aryldialkylphosphatase/genetics , Coronary Artery Disease/metabolism , Folic Acid/metabolism , Homocysteine/metabolism , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Vitamin B 12/metabolism , Aged , Coronary Artery Disease/enzymology , Female , Humans , Male , Middle Aged
18.
Psychiatr Genet ; 18(6): 289-94, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19018234

ABSTRACT

BACKGROUND: Oxidative stress and free radical-induced toxicity have been implicated in the pathophysiology of schizophrenia. In this study, we examined paraoxonase (PON1)-55/192 polymorphisms and PON1 activity in patients with schizophrenia, first-degree relatives of schizophrenic patients, and healthy controls. METHODS: This study consisted of 292 healthy participants, 267 unrelated patients with schizophrenia and 311 first-degree relatives of schizophrenic patients. PON1 55 (rs 854560) and PON1 192 (rs 662) polymorphisms were performed by restriction fragment length polymorphism. RESULTS: The frequencies of the QQ and LL genotypes were significantly overpresented in controls compared with those of schizophrenic patients and their relatives. In contrast, the RR genotype was more prevalent in patients than their relatives and healthy controls. The frequencies of the LM and QR genotypes in relatives were higher than controls. Serum PON1 activities of controls were significantly higher when compared with both schizophrenic patients and their relatives. The RR and LL genotypes were associated with a significantly increased PON1 activity as compared with QR or QQ and MM or LM genotypes, respectively, in all groups. CONCLUSION: This is the first study that shows the association between PON1-55/192 polymorphisms and schizophrenia. Our data suggest that the subjects carrying R allele or RR genotype might be susceptible to schizophrenia and subjects with QQ or LL might be protected against schizophrenia. First-degree relatives of schizophrenic patients have higher heterozygote genotypes, suggesting that this group can shift either to patient or control group depending on their allele types and environmental factors. PON1 genetic variations are also associated with PON1 activities. Reduced PON1 activity in patients and their relatives might result from the combined effects of more than one polymorphic variant in PON1 or other genes and/or increased oxidative stress, supporting the hypothesis that reactive oxygen species-mediated cellular damage might contribute to the neuropathology of schizophrenia.


Subject(s)
Aryldialkylphosphatase/genetics , Schizophrenia/genetics , Adult , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Schizophrenia/enzymology , Turkey
19.
Med Sci Monit ; 14(10): CR536-42, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18830194

ABSTRACT

BACKGROUND: We investigated the association of matrix metalloproteinase-3 (MMP-3) and paraoxonase 1 (PON1) 55/192 polymorphisms with coronary artery disease (CAD) and the number of diseased vessels in patients with CAD. MATERIAL/METHODS: One hundred thirty-nine CAD patients and 119 healthy control subjects were included in the study. Genotypes for PON1 55/192 and MMP-3 5A/6A polymorphisms were determined by restriction fragment length polymorphism. RESULTS: Although distributions of the RR genotype of PON1 192 and the 5A5A genotype of MMP-3 were more frequent in patients, frequencies of the QQ genotype of PON1 192, the MM genotype of PON1 55, and the 6A6A genotype of MMP-3 were significantly lower in patients compared with healthy control subjects. The combined genotypes of RR/LL and/or 5A5A are increased the risk of CAD when compared with subjects who possess neither the MMP-3 5A5A nor the PON1 RR/LL genotype. While the MMP-3 5A/6A genetic variants were not associated with the number of diseased vessels, PON1 55/192 variants were associated with the number of diseased vessels. CONCLUSIONS: The combined PON1 55/192 and MMP-3 5A/6A genetic variants are associated with CAD; PON1 seems to be connected with the number of diseased vessels, and hypertension and hyperlipidemia are related with PON1 192 and MMP-3 in CAD patients.


Subject(s)
Aryldialkylphosphatase/genetics , Coronary Artery Disease/genetics , Matrix Metalloproteinase 3/genetics , Polymorphism, Genetic , Adult , Aged , Alleles , Coronary Artery Disease/pathology , Diabetes Mellitus/genetics , Female , Genetic Predisposition to Disease , Genotype , Humans , Hyperlipidemias/genetics , Hypertension/genetics , Male , Middle Aged , Myocardial Infarction/genetics , Polymorphism, Restriction Fragment Length , Turkey
20.
Prog Neuropsychopharmacol Biol Psychiatry ; 32(5): 1331-7, 2008 Jul 01.
Article in English | MEDLINE | ID: mdl-18513846

ABSTRACT

We investigated the effect of polymorphic variants of c.1298A>C (Glu429Ala) and c.677C>T (Ala222Val) in methylenetetrahydrofolate (MTHFR) gene on the total homocysteine (tHcy), folate and B12 levels in patients with bipolar disorder, first-degree relatives of patients, and controls. The c.677C>T and c.1298A>C polymorphisms in MTHFR were determined by polymerase chain reaction-restriction fragment length polymorphism in 197 bipolar patients, 278 relatives and 238 controls. tHcy and folate and vitamin B12 levels were measured by Fluorescence Polarization Immunoassay and Electrochemiluminescence, respectively. The tHcy was significantly increased in patients and relatives. In contrast, folate and B12 were significantly lower in patients and relatives. Gender was not considered as a significant determinant in the multivariate analysis. Genotypes of c.1298A>C and c.677C>T were correlated with tHcy, folate and B12. Patients and relatives carrying TT and/or AA and AC genotypes had elevated tHcy and reduced folate and B12 levels. High tHcy but low folate and vitamin B12 levels may be a risk factor for development of bipolar disorder.


Subject(s)
Bipolar Disorder/blood , Bipolar Disorder/genetics , Family , Folic Acid/blood , Homocystine/blood , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Genetic , Vitamin B 12/blood , Adult , Analysis of Variance , Female , Fluorescence Polarization Immunoassay/methods , Gene Frequency , Genotype , Humans , Male , Middle Aged
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