RESUMO
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. METHODS: Screening is currently achieved by chromosomal microarrays followed by whole-exome sequencing (WES). In search for the aetiological yield of WES in patients with NSID, 59 unrelated patients were studied. RESULTS: Among the 59 patients, 44 (74.6%) were from consanguineous unions. Epilepsy was present in 11 (37.9%), behavioural problems in 12 (41.4%) and autistic features in 14 (48.3%). WES analysis resulted in molecular diagnosis in 29 patients (49.2%). Some of the genes were specific for nervous system functioning, like HERC1, TBC1D7, LINS, HECW2, DEAF1, HNMT, DLG3, NRXN1 and HUWE1. Others were ubiquitously expressed genes involved in fundamental cellular processes, like IARS, UBE3A, COQ4, TAF1, SETBP1, ARV1, ZC4H2, KAT6A, ASXL3, THOC6, HNRNPH2, TUBA8 and KIF1A. Twenty-two (75.8%) were consanguineously married; however, only 12 (41.4%) of the detected genes caused autosomal recessive phenotypes. CONCLUSIONS: This cohort suggests that recessive genes probably represent an actually smaller subgroup of NSID, even among families with consanguinity. Although in societies with high consanguinity rates, considering the recessive inheritance first seems to be an advantageous strategy, de novo mutations in autosomal dominantly expressed genes represent the major aetiological group in patients with NSID, even among those patients from consanguineous families.
Assuntos
Deficiência Intelectual , Proteínas de Transporte , Consanguinidade , Proteínas de Ligação a DNA , Genes Recessivos , Humanos , Deficiência Intelectual/genética , Peptídeos e Proteínas de Sinalização Intracelular , Cinesinas , Proteínas de Membrana , Proteínas Nucleares , Fenótipo , Proteínas de Ligação a RNA , Fatores de Transcrição , Proteínas Supressoras de Tumor , Ubiquitina-Proteína Ligases , Sequenciamento do ExomaRESUMO
PURPOSE: To evaluate postoperative change in choroidal thickness (CT) in patients with anisometropic amblyopia undergoing keratorefractive surgery. METHODS: Anisometropic amblyopic patients and nonamblyopic patients who underwent keratorefractive surgery were included in the study. The eyes were divided into three groups. Group 1 consisted of eyes with anisometropic amblyopia, group 2 were the nonamblyopic fellow eyes, and group 3 (control group) were nonamblyopic eyes which had undergone keratorefractive surgery. At the third postoperative month, the CT of these eyes were measured by Enhanced Depth Imaging OCT (EDI-OCT). The choroidal thickness (CT) was measured in the subfoveal area and at 500 micron intervals nasally and temporally. RESULTS: Twenty-three anisometropic amblyopia patients with amblyopic and fellow eyes and 23 control eyes were enrolled. The mean subfoveal choroidal thickness (CT) was 387.3±168.8µm in group 1, 412.2±88.8µm in group 2 and 337.3±99µm in group 3 (P: 0.019). Group 1 and group 2 showed higher choroidal thickness (CT) in the nasal and temporal quadrants than group 3 (P: 0.03, P: 0.04). At the third postoperative month, central foveal choroidal thickness was 356.6±115.5µm in group 1, 375.1±112.5µm in group 2 and 284.4±98.9µm in group 3 (P: 0.071). Choroidal thickness (CT) in the nasal and temporal quadrants at the third postoperative month was also similar (P: 0.210, P: 0.103). CONCLUSIONS: The macular choroid is thicker in amblyopic eyes and non-amblyopic fellow eyes than in the nonamblyopic controls. Improved fixation after refractive surgery may normalize CT.
Assuntos
Ambliopia/cirurgia , Anisometropia/cirurgia , Corioide/patologia , Ceratoplastia Penetrante , Complicações Pós-Operatórias/diagnóstico , Adulto , Ambliopia/complicações , Ambliopia/diagnóstico por imagem , Ambliopia/patologia , Anisometropia/complicações , Anisometropia/diagnóstico por imagem , Anisometropia/patologia , Estudos de Casos e Controles , Corioide/diagnóstico por imagem , Corioide/cirurgia , Feminino , Humanos , Ceratoplastia Penetrante/efeitos adversos , Ceratoplastia Penetrante/métodos , Masculino , Tamanho do Órgão , Complicações Pós-Operatórias/patologia , Estudos Prospectivos , Tomografia de Coerência Óptica/métodos , Adulto JovemRESUMO
OBJECTIVE: To determine the efficacy of ocular trauma score (OTS) in determining the prognosis in patients with open globe injury who admitted to our clinic. MATERIALS AND METHODS: Data of patients with open globe injury who were admitted to our clinic between 2014 and 2016 were retrospectively analyzed. The OTS raw score of each patient was determined and translated into OTS categories according to OTS study. Prognostic results of OTS study and current study was compared with chi square analysis. RESULTS: In our study, 101 eyes of 101 patients were examined. The mean age of the patients was 27.08±15.36 years. The mean follow-up period was 12.84±9.04 months. In total, 86 of the cases were male (85.1%). In our study, the mean initial visual acuity of the patients was 0.10±0.23. In 64.3% of the cases, IVA was at hand movement level or lower. IVA was found to be≥20/40 in 10.9%. The mean FVA was 0.38±0.37. In total, 41.6% of the cases had a FVA≥20/40. In 28.7% of these cases, FVA was at hand movement level or lower. While no significant difference was found in patients with OTS3, OTS 4 and OTS 5 (P>0.05), prognosis of patients with OTS 1 and OTS 2 was better than OTS study (P<0.001) CONCLUSION: Although OTS can be effective and safe data in terms of prognosis, it can be improved with more comprehensive studies.
Assuntos
Traumatismos Oculares , Adolescente , Adulto , Criança , Traumatismos Oculares/complicações , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/epidemiologia , Humanos , Masculino , Estudos Retrospectivos , Índices de Gravidade do Trauma , Turquia/epidemiologia , Acuidade Visual , Adulto JovemRESUMO
INTRODUCTION: While monophasic and relapsing forms of myelin oligodendrocyte glycoprotein antibody associated disorders (MOGAD) are increasingly diagnosed world-wide, consensus on management is yet to be developed. OBJECTIVE: To survey the current global clinical practice of clinicians treating MOGAD. METHOD: Neurologists worldwide with expertise in treating MOGAD participated in an online survey (February-April 2019). RESULTS: Fifty-two responses were received (response rate 60.5%) from 86 invited experts, comprising adult (78.8%, 41/52) and paediatric (21.2%, 11/52) neurologists in 22 countries. All treat acute attacks with high dose corticosteroids. If recovery is incomplete, 71.2% (37/52) proceed next to plasma exchange (PE). 45.5% (5/11) of paediatric neurologists use IV immunoglobulin (IVIg) in preference to PE. Following an acute attack, 55.8% (29/52) of respondents typically continue corticosteroids for ≥ 3 months; though less commonly when treating children. After an index event, 60% (31/51) usually start steroid-sparing maintenance therapy (MT); after ≥ 2 attacks 92.3% (48/52) would start MT. Repeat MOG antibody status is used by 52.9% (27/51) to help decide on MT initiation. Commonly used first line MTs in adults are azathioprine (30.8%, 16/52), mycophenolate mofetil (25.0%, 13/52) and rituximab (17.3%, 9/52). In children, IVIg is the preferred first line MT (54.5%; 6/11). Treatment response is monitored by MRI (53.8%; 28/52), optical coherence tomography (23.1%; 12/52) and MOG antibody titres (36.5%; 19/52). Regardless of monitoring results, 25.0% (13/52) would not stop MT. CONCLUSION: Current treatment of MOGAD is highly variable, indicating a need for consensus-based treatment guidelines, while awaiting definitive clinical trials.
Assuntos
Autoanticorpos , Imunoglobulinas Intravenosas , Adulto , Criança , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Glicoproteína Mielina-Oligodendrócito , Plasmaferese , Inquéritos e QuestionáriosRESUMO
PURPOSE: The functional use of the upper extremities in daily living activities has become important in the later ages with the increasing life expectancy of patients with Duchenne muscular dystrophy (DMD). This study aimed to assess manual ability and upper limb performance of nonambulatory children with DMD, and to determine their relationship with factors that might affect ability and performance. METHODS: Manual ability was determined via the ABILHAND-Kids questionnaire and upper limb performance was assessed with the Performance of Upper Limb (PUL) test. Possible related factors such as functional level, steroid usage, upper limb range of motion (ROM), thumb opposition, upper limb muscular strength, and grip strength were evaluated. Correlations of related factors with manual ability and upper limb performance were analyzed. RESULTS: The mean age of 23 nonambulatory DMD children was 13.04±1.39 years. Moderate impairments were determined according to the ABILHAND-Kids and PUL, with scores of 26.30±10.74 and 46.22±15.02, respectively. The functional level, steroid usage, duration of wheelchair use, upper extremity ROM, and global upper limb muscle strength of children were weak-to-strongly correlated with at least one score of ABILHAND-Kids and PUL (P<0.05). CONCLUSION: Children with DMD may already have severe proximal and mid-level upper extremity involvement, even reflected in distal functions, at the time when they progress to the nonambulatory stage. Besides muscular strength, many related factors should be taken into account for therapists to assess and treat upper limb performance at later stages of DMD.
Assuntos
Distrofia Muscular de Duchenne/fisiopatologia , Extremidade Superior/fisiopatologia , Atividades Cotidianas , Adolescente , Criança , Avaliação da Deficiência , Feminino , Humanos , Masculino , Limitação da Mobilidade , Força Muscular , Estudos Prospectivos , Amplitude de Movimento ArticularRESUMO
PURPOSE: To observe the rate of hypotony and intraocular pressure (IOP) fluctuations immediately following intravitreal dexamethasone implantation in vitrectomized eyes. METHODS: The study included previously vitrectomized eyes scheduled to receive intravitreal dexamethasone implants. IOP measurements were performed at minute 1, minute 10, hour 1, hour 2, hour 3 and day 1. The primary outcome measure of the study was the rate of hypotony at the various time points, while the secondary outcome measure was the IOP profile over time. RESULTS: A total of 26 eyes were enrolled in the study. Immediately following the injection, 11 (42.3%) of the eyes exhibited an IOP<6mm Hg. Hypotony was observed in one eye (3.8%) at hour 3 and day 1. After the immediate IOP reduction, IOP recovered rapidly and showed a peak at hour 1, with 5 eyes (19.2%) exhibiting IOP levels ≥25mmHg and 1 eye (3.8%) ≥30mm Hg. Aside from the eye with persistent hypotony resulting in a choroidal effusion, no other complication was observed. CONCLUSIONS: Injection of dexamethasone implants in vitrectomized eyes resulted in immediate IOP reduction. Hypotony showed a short, self-limited course in the majority of eyes. In the presence of additional risk factors for wound incompetency, regular follow-up in the early post-injection period appears to be needed.
Assuntos
Dexametasona/administração & dosagem , Implantes de Medicamento/administração & dosagem , Pressão Intraocular/efeitos dos fármacos , Hipotensão Ocular/tratamento farmacológico , Vitrectomia , Idoso , Oftalmopatias/complicações , Oftalmopatias/tratamento farmacológico , Oftalmopatias/fisiopatologia , Oftalmopatias/cirurgia , Feminino , Humanos , Pressão Intraocular/fisiologia , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Hipotensão Ocular/complicações , Hipotensão Ocular/fisiopatologia , Hipotensão Ocular/cirurgia , Estudos Retrospectivos , Tonometria Ocular , Vitrectomia/reabilitação , Corpo Vítreo/efeitos dos fármacosRESUMO
PURPOSE: To evaluate iris structure in aphakic eyes scheduled for placement of a secondary intraocular lens. METHODS: Twenty-eight aphakic eyes of 28 patients who were scheduled for secondary intraocular lens implantation between January 2012 and January 2017 at Beyoglu Eye Training and Research Hospital after a complicated cataract surgery were recruited in this study. The phakic fellow eyes of the patients were defined as a control group. Iris thickness was assessed using anterior segment optical coherence tomography at 750µm (IT750) and 2000µm (IT2000) from the scleral spur. Moreover, maximum iris thickness (ITM) and anterior chamber angle parameters such as trabecular iris surface area at 500 and 750µm (TISA500, TISA750), angle opening distances at 500 and 750µm (AOD500, AOD750) and anterior chamber depth (ACD) were also evaluated. RESULTS: Mean IT750, IT2000 and ITM readings and were significantly lower in the aphakic eyes compared to the healthy eyes (P=0.04, P=0.01, P=0.01 respectively). Anterior chamber parameters (TISA500, TISA750, AOD500 and AOD750) and ACD were significantly increased in aphakic eyes following complicated cataract surgery compared to healthy fellow eyes (all P<0.001). CONCLUSIONS: Complicated cataract surgery leading to aphakia results in decreased iris thickness and increased anterior chamber depth. These findings might be helpful in the selection of the type of surgery for placement of a secondary IOL.
Assuntos
Câmara Anterior/diagnóstico por imagem , Afacia Pós-Catarata/diagnóstico , Extração de Catarata/efeitos adversos , Iris/diagnóstico por imagem , Iris/patologia , Complicações Pós-Operatórias/diagnóstico , Idoso , Câmara Anterior/patologia , Segmento Anterior do Olho/diagnóstico por imagem , Segmento Anterior do Olho/patologia , Afacia Pós-Catarata/complicações , Afacia Pós-Catarata/patologia , Estudos de Casos e Controles , Catarata/diagnóstico , Catarata/patologia , Estudos Transversais , Feminino , Gonioscopia/métodos , Humanos , Iris/ultraestrutura , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/patologia , Tomografia de Coerência Óptica/métodosRESUMO
PURPOSE: To present the two-year results of ellipsoid zone (EZ) recovery by Spectral Domain Optical Coherence Tomography (SD-OCT) after vitrectomy surgery in large full thickness macular holes (MHs). METHODS: Thirty eyes of 30 patients were enrolled in this retrospective study. Inclusion criteria were large full thickness idiopathic MH (400 microns), a minimum follow-up period of 24 months and successful repair of the hole with the first surgery. The mean length of the EZ defect was calculated linearly via SD-OCT preoperatively and at postoperative 1st, 3rd, 6th, 12th, 18th and 24th months. The main outcome measures were diameter of the EZ defect and preoperative and postoperative best corrected visual acuities (BCVA). RESULTS: The EZ defect was mostly recovered in the first month. The continuity of the EZ and total recovery of the EZ defect was achieved in 3.33 % of the participants at month 12; 10 % of the participants at month 18, and 33.3 % of the participants at month 24. The EZ defect was significantly correlated with BCVA preoperatively and at 6 months postoperatively (P=0.02 and P=0.01, respectively). CONCLUSIONS: Ellipsoid zone recovery occurred mostly in the first month after vitreoretinal surgery, and this recovery process extended up to 2 years. At 24 months postoperatively, the EZ was fully recovered in only one third of the patients.
Assuntos
Perfurações Retinianas/diagnóstico por imagem , Perfurações Retinianas/cirurgia , Tomografia de Coerência Óptica , Vitrectomia , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Perfurações Retinianas/patologia , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
PURPOSE: To report anatomical and functional outcomes of pars plana vitrectomy (PPV) for recurrent retinal detachment (RD) after failed scleral buckling (SB) or primary PPV. METHODS: Retrospective analysis of 59 eyes with recurrent RD treated previously with SB or PPV was performed. All eyes underwent 23 gauge PPV. The primary outcome was single surgery success rate (SSSR) for retinal reattachment at the final visit. Secondary outcomes were visual acuity change and number of reoperations. RESULTS: SSSR was 77.4 % in the SB group and 67.9 % in the PPV group (P=0.41). The mean change in visual acuity was not significantly different between the two groups (P=0.35). The mean number of reoperations was 1.2±0.5 and 1.4±0.6 in the SB and PPV groups, respectively (P=0.38). CONCLUSION: PPV was found to be an effective technique for the management of recurrent RD after SB and PPV surgeries. However, the small sample size and the retrospective design prevent any claims of advantages or disadvantages of one surgical technique over the other.
Assuntos
Descolamento Retiniano/cirurgia , Recurvamento da Esclera , Vitrectomia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Reoperação , Estudos Retrospectivos , Resultado do Tratamento , Vitrectomia/métodos , Adulto JovemRESUMO
PURPOSE: To evaluate the long-term efficacy and safety of hyperopic laser in situ keratomileusis (LASIK) using the AMARIS® 750S (Schwind, Eye-tech-solutions, GmbH) excimer laser. METHODS: The medical records of one hundred eleven eyes of 62 patients who underwent LASIK for hyperopia using the AMARIS® 750S excimer laser were reviewed retrospectively. Patients were divided into three groups based on preoperative spherical equivalent (SE) refraction: low hyperopia (less than +2.50 diopters [D]), moderate hyperopia (+2.75D to +4.00D), and high hyperopia (over +4.00D). Uncorrected and best corrected visual acuity (BCVA), long-term stability of refraction, and complications were evaluated. RESULTS: Of the entire sample, the mean preoperative SE was +3.64D±1.22D. The mean age was 37.4±11.2 years (20-59). The mean follow-up for all eyes was 51 months. At the last visit, the mean SE was +0.85D±0.34D (SD) in the low hyperopia group, +1.09D±0.43D in the moderate hyperopia group, and +1.63D±0.47D in the high hyperopia group. (+1.15D±0.49D overall). Preoperative uncorrected visual acuity (UCVA) was 0.52±0.34 logMAR and increased to 0.18±0.15 logMAR at 4 years follow-up (P<0.01). There was no statistically significant difference between preoperative and postoperative BCVA. The UCVA was 0.30 logMAR or better in 100% of eyes in the low hyperopia group, 93.7% in the moderate hyperopia group, and 69.9% in the high hyperopia group (%89.2 overall). CONCLUSIONS: LASIK is safe and effective for correcting hyperopia in the short term; however, the efficacy of the procedure is limited in the patients with high hyperopia and longer follow-up.
Assuntos
Hiperopia/cirurgia , Ceratomileuse Assistida por Excimer Laser In Situ/métodos , Lasers de Excimer/uso terapêutico , Refração Ocular , Acuidade Visual , Adulto , Feminino , Seguimentos , Humanos , Hiperopia/fisiopatologia , Ceratomileuse Assistida por Excimer Laser In Situ/efeitos adversos , Ceratomileuse Assistida por Excimer Laser In Situ/instrumentação , Ceratomileuse Assistida por Excimer Laser In Situ/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Refração Ocular/efeitos da radiação , Estudos Retrospectivos , Resultado do Tratamento , Testes Visuais , Acuidade Visual/efeitos da radiação , Adulto JovemRESUMO
PURPOSE: To investigate retinal nerve fiber layer (RNFL) thickness, anterior lamina cribrosa depth (ALD) and laminar thickness (LT) in eyes with angioid streaks (AS) in comparison with healthy eyes. METHODS: Patients with AS (n=32 eyes) and age-matched healthy subjects (n=42 eyes) underwent enhanced depth imaging with spectral domain optical coherence tomography of the optic nerve head. RNFL thickness was obtained automatically by using the Heidelberg software. The ALD was defined as the vertical distance between the Bruch's membrane openings as reference plane and the anterior border of the lamina cribrosa. The LT was measured as the distance between the anterior and posterior borders of the lamina cribrosa. RNFL thickness, ALD and LT were compared between the AS and healthy eyes adjusting for axial length. RESULTS: The mean age was 51.7±8.0 years for AS patients and 53.8±10.2 years for control subjects (P=0.34). The mean RNFL thickness was 88.6±17.6µm in AS eyes and 102.1±8.3µm in control eyes; the difference between the groups was significantly significant. ALD was 350.9±70.8µm in AS eyes and 432.5±82.1µm in control eyes, while LT was 166.3±41.0µm in AS eyes and 241.3±43.2µm in control eyes. ALD and LT were also significantly thinner in AS eyes than control eyes (P=0.003, P<0.001; respectively). CONCLUSION: Enhanced depth imaging revealed that eyes with AS demonstrate thinner RNFL, ALD and LT compared with normal eyes. Further studies with a larger sample size are needed to understand the relationship between these findings and the morphologic changes and pathogenesis of AS.
Assuntos
Estrias Angioides/diagnóstico por imagem , Disco Óptico/diagnóstico por imagem , Retina/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Lâmina Basilar da Corioide/diagnóstico por imagem , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pseudoxantoma Elástico/diagnóstico por imagemRESUMO
PURPOSE: To compare the efficacy of intravitreal ranibizumab (IVR) and intravitreal dexamethasone implant (IDI) on neurosensory retinal detachment (SRD) associated with diabetic macular edema (DME) in the early treatment period. METHODS: This was a retrospective, interventional, case-control study. After three monthly loading doses of IVR or an initial IDI injection, the changes in best-corrected visual acuity (BCVA), central macular thickness (CMT) on OCT, and presence and height of SRD were evaluated. RESULTS: The IVR and IDI groups consisted of 101 and 35 eyes, respectively. The mean changes in CMT in the IVR and IDI groups were 204.4±176.6 and 311.4±163, respectively (P<0.001). The mean changes in SRD height in the IVR and IDI groups were 133.6±92.1 and 168.6±103.9µm, respectively. The decrease in SRD height was significantly greater in the IDI group than in the IVR group (P=0.002). The SRD resolved completely in 72.2% and 71.4% of the patients in the IVR and IDI groups, respectively (P=0.9). CONCLUSION: The mean reduction in CMT and SRD height was greater in the IDI group than in the IVR group. There was a negative correlation between baseline best-corrected visual acuity (BCVA) and SRD height and also between BCVA and CMT.
Assuntos
Dexametasona/administração & dosagem , Retinopatia Diabética/tratamento farmacológico , Edema Macular/tratamento farmacológico , Ranibizumab/administração & dosagem , Descolamento Retiniano/tratamento farmacológico , Idoso , Estudos de Casos e Controles , Dexametasona/efeitos adversos , Retinopatia Diabética/complicações , Implantes de Medicamento , Feminino , Humanos , Injeções Intravítreas , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Ranibizumab/efeitos adversos , Descolamento Retiniano/etiologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Acuidade Visual/efeitos dos fármacosRESUMO
AIM: Brucellosis is a highly contagious zoonotic infection affecting livestock and human beings. This study aimed to investigate the prevalence of Brucella in raw milk collected from a provincial center and central villages in the Central Anatolian region. MATERIALS AND METHODS: This cross-sectional study was completed between March and September of 2016. The sample size for research was calculated as 263 milk samples with the Epi Info 2000 program. Samples were tested with the milk ring test, Rose Bengal test, and standard Brucella tube agglutination test. Suspicious samples according to these tests were seeded on medium for observation. RESULTS: In this study, 202 cow's milk samples collected from 14 central villages were researched for the presence of Brucella abortus, a Brucella species bacterium. According to the medium seeding results, 35 of 202 raw cow's milk samples (17.32%) were identified as suspicious. CONCLUSION: The research investigated the prevalence of Brucella in milk samples collected from bovine farms used for consumption and production of raw milk products. The most significant infection route in our region is considered to be consumption of milk and milk products such as raw milk and fresh cheese. Especially in rural areas, households consuming their own produced milk are common. In regions with family-style milk and milk product production and consumption, interventional studies with the aim of improving knowledge, attitudes, and behavior related to zoonotic diseases should not be neglected.
Assuntos
Brucella abortus/isolamento & purificação , Brucelose/epidemiologia , Doenças Transmitidas por Alimentos/epidemiologia , Animais , Bovinos , Estudos Transversais , Feminino , Inocuidade dos Alimentos , Humanos , Leite , Prevalência , Turquia/epidemiologiaRESUMO
BACKGROUND: It has long been known that the majority of patients with multiple sclerosis (MS) display an intrathecal, polyspecific humoral immune response to a broad panel of neurotropic viruses. This response has measles virus, rubella virus and varicella zoster virus as its most frequent constituents and is thus referred to as the MRZ reaction (MRZR). OBJECTIVE: Re-evaluation of the specificity of MRZR as a marker of MS. METHODS: Structured review of the existing English-, German- and Spanish-language literature on MRZR testing, with evaluation of MRZR in a cohort of 43 unselected patients with MS and other neurological diseases as a proof of principle. RESULTS: A positive MRZ reaction, defined as a positive intrathecal response to at least two of the three viral agents, was found in 78% of MS patients but only in 3% of the controls (p < 0.00001), corresponding to specificity of 97%. Median antibody index values were significantly lower in non-MS patients (measles, p < 0.0001; rubella, p < 0.006; varicella zoster, p < 0.02). The 30 identified original studies on MRZR reported results from 1478 individual MRZR tests. A positive MRZR was reported for 458/724 (63.3%) tests in patients with MS but only for 19/754 (2.5%) tests in control patients (p < 0.000001), corresponding to cumulative specificity of 97.5% (CI 95% 96-98.4), cumulative sensitivity of 63.3% (CI 95% 59.6-66.8) (or 67.4% [CI 95% 63.5-71.1] in the adult MS subgroup), a positive likelihood ratio of 25.1 (CI 95% 16-39.3) and a negative likelihood ratio of 0.38 (CI 95% 0.34-0.41). Of particular note, MRZR was absent in 52/53 (98.1%) patients with neuromyelitis optica or MOG-IgG-positive encephalomyelitis, two important differential diagnoses of MS. CONCLUSION: MRZR is the most specific laboratory marker of MS reported to date. If present, MRZR substantially increases the likelihood of the diagnosis of MS. Prospective and systematic studies on the diagnostic and prognostic impact of MRZR testing are highly warranted.
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Anticorpos Antivirais/líquido cefalorraquidiano , Herpesvirus Humano 3/imunologia , Vírus do Sarampo/imunologia , Esclerose Múltipla/líquido cefalorraquidiano , Vírus da Rubéola/imunologia , Biomarcadores/líquido cefalorraquidiano , Humanos , Esclerose Múltipla/virologiaRESUMO
The vascular flora alongside the railway track between Haydarpasa and Gebze in Turkey was investigated and the floristic features of the study area are presented here. The investigation was undertaken during 2003-2009. In total 194 plant taxa were determined. Out of these 174 were naturally growing and 20 were exotics and cultivated. Native taxa within the flora belonged to 135 genera and 50 families, exotic and cultivated taxa belonged to 20 genera and 15 families. The members of Dicotyledonae constituted of 82.76% and Monocotyledonae 16.09% of the native taxa. The highest number of these taxa belonged to Asteraceae family (25 species), while the exotics were from Rosaceae (5 species). The plant distributional features, phytogeographical elements, life forms, archaeophytes and neophytes and status of invasive plants have also been included.
Assuntos
Biodiversidade , Plantas/classificação , Demografia , Monitoramento Ambiental , TurquiaRESUMO
This paper employs the root locus method to conduct a detailed investigation of the parameter regions that ensure bistability in a well-studied gene regulatory network namely, lac operon of Escherichia coli (E. coli). In contrast to previous works, the parametric bistability conditions observed in this study constitute a complete set of necessary and sufficient conditions. These conditions were derived by applying the root locus method to the polynomial equilibrium equation of the lac operon model to determine the parameter values yielding the multiple real roots necessary for bistability. The lac operon model used was defined as an ordinary differential equation system in a state equation form with a rational right hand side, and it was compatible with the Hill and Michaelis-Menten approaches of enzyme kinetics used to describe biochemical reactions that govern lactose metabolism. The developed root locus method can be used to study the steady-state behavior of any type of convergent biological system model based on mass action kinetics. This method provides a solution to the problem of analyzing gene regulatory networks under parameter uncertainties because the root locus method considers the model parameters as variable, rather than fixed. The obtained bistability ranges for the lac operon model parameters have the potential to elucidate the appearance of bistability for E. coli cells in in vivo experiments, and they could also be used to design robust hysteretic switches in synthetic biology.
Assuntos
Escherichia coli/genética , Redes Reguladoras de Genes/fisiologia , Genes Bacterianos/fisiologia , Óperon Lac/fisiologia , Modelos GenéticosRESUMO
AIMS: Low adiponectin and high lipoprotein(a) [Lp(a)] levels are associated with endothelial dysfunction, atherosclerosis, and coronary artery disease. Cardiac syndrome X (CSX) is characterized by anginal symptoms, positive stress test, and documentation of normal epicardial coronary arteries with angiography. In this study we aimed to investigate the relationship between CSX and circulating levels of adiponectin and Lp(a). PATIENTS AND METHODS: We enrolled 53 female patients with CSX and 33 patients as the control group. The diagnosis of CSX was made according to presence of angina, findings suggestive of ischemia during stress electrocardiography or myocardial perfusion scintigraphy, and documentation of normal coronary arteries in coronary angiography. The control group consisted of patients with atypical angina and normal stress electrocardiography test results. Both groups were matched in terms of hypertension, diabetes mellitus, and metabolic syndrome. RESULTS: Adiponectin levels were significantly decreased in patients with CSX (4.57 µg/ml vs. 13.18 µg/ml; p=0.001); however, Lp(a) levels were significantly increased (36.30 mg/dl vs. 7.24 mg/dl; p < 0.001). Low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) concentrations did not differ between the case group and the control group (p=0.14, p=0.62, p=0.64, respectively). There was no significant difference between groups in terms of age, body mass index, waist circumference hypertension, hyperlipidemia, diabetes mellitus, or metabolic syndrome. In multivariate analysis, Lp(a) and adiponectin were found to be independent predictors of CSX. An Lp(a) level of > 21 mg/dl had 84 % sensitivity and 96 % specificity {area under the curve (AUC)= 0.922, p < 0.0001, 95 % CI [0.842-0.970]} and an adiponectin level of ≤ 5.18 µg/ml also had 58.7 % sensitivity and 82.1 % specificity (AUC=0.726, p=0.0003, 95 % CI [0.609-0.823]) for detecting CSX. CONCLUSION: We detected low adiponectin and high Lp(a) levels in patients with CSX and these findings may be related to the microvascular injury in CSX.