Epidural blood patch treatment in a patient with chronic headache related to spontaneous intracranial hypotension [Spontan intrakraniyal hipotansiyona bagli kronik baş agrisi olan hastada epidural kan yamasi tedavisi]

PubMed ID: 21153936Intracranial hypotension is usually seen in middle-aged adults and appears with orthostatic headache. It is characterized by low cerebrospinal fluid (CSF) pressure and pachymeningeal-dural thickening on magnetic resonance imaging (MRI). Lumbar puncture, dural rupture with CSF leakage secondary to spinal anesthesia or spinal traumas, and under-production or over-absorption of CSF due to some metabolic events such as dehydration, uremia and diabetic coma are the main etiologic factors. It is sometimes considered as idiopathic when no etiologic factor is present. In addition, some connective tissue disorders have risk of CSF leakage due to spontaneous dural rupture. Neck pain, tinnitus, nausea and vomiting, and diplopia may accompany headache. CSF leakage can be identified by computerized tomography (CT) myelography, CSF-flow MRI, and radionuclide cisternography. Bed rest, fluid resuscitation, caffeine, theophylline, and non-steroidal antiinflammatory drugs (NSAIDs) are important treatment options. In patients resistant to therapy, interventional measures such as epidural saline or blood patch can be applied. In this case report, we evaluated the results of pain treatment options in a patient having headache due to intracranial hypotension who was hospitalized in the Neurology Department of Ege University Hospital

Endovascular treatment of indirect carotid-cavernous fistula via thrombosed superior ophthalmic vein in patient with trapped sinus [Tuzaklanmi{dotless}ş sinüslü bir olguda i·ndirekt karotiko-kavernöz fistülün tromboze süperior oftalmik ven yoluyla endovasküler tedavisi]

In the endovascular treatment of indirect carotid-cavernous sinus fistulas (CCF's) when access to the cavernous sinus via transfemoral approach could not be obtained due to various reasons (vascular variation, thrombosis, trapped sinus), superior ophthalmic vein (SOV) is the main way that can be used. SOV provides direct access to the cavernous sinus. However, SOV may be thrombosed in some cases. In these cases the recognization and catheterization of SOV is quite diffucult although successful catheterization is possible with the angiojet passing through thrombosis in case of which thrombosis is segmental. Herein we aimed to report a 58- year- old woman who underwent embolization of indirect CCF (Barrow Type D) through thrombosed SOV with liquid agent Onyx 18 because of trapped sinus. Clinical features, endovascular embolization technique and results are discussed

Establishment and reliability test of a "Vertigo Council Diagnosis Questionnaire" for patients with chronic vestibular dysfunction: preliminary study

PubMed ID: 26476514RESULTS: When all the items of our questionnaire were evaluated, the content validity ratio ranged from 0.6 to 0.87, and the content validity index was 0.676. The conformity ratio between the real diagnosis and the diagnosis based on the questionnaire was 63.19%, and the kappa was 0.441 (moderate). No significant difference was found between the first and second responses to any of the questions (p>0.05). There was no significant difference between question conformity (conformity between the first and second responses) and diagnostic conformity (conformity between the real diagnosis and the diagnosis based on the questionnaire) (p>0.05) in any of the questions. No relationship was found between diagnostic conformity and sociodemographic data (age, sex, education, occupation) (p>0.05).MATERIALS AND METHODS: A "Vertigo Council Diagnosis Questionnaire" consisting of 10 questions was prepared by 15 specialist physicians and analyzed for reliability using the "translation-back-translation" method.CONCLUSION: Our study results suggest that, in Turkish patients, diagnosis of vertigo should be based on face-to-face interviews, and clinical and laboratory evaluations rather than a questionnaire.OBJECTIVES: This study aims to establish a "Vertigo Council Diagnosis Questionnaire" for patients with chronic vestibular dysfunction and show the reliability of this questionnaire

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

BACKGROUND: The prevalence of phenylalanine hydroxylase (PAH)-deficient phenylketonuria (PKU) in Turkey is high (1 in 6500 births), but data concerning the genotype distribution and impact of the genotype on tetrahydrobiopterin (BH(4)) therapy are scarce. OBJECTIVE: To characterize the phenotypic and genotypic variability in the Turkish PKU population and to correlate it with physiological response to BH(4) challenge. METHODS: We genotyped 588 hyperphenylalaninemic patients and performed a BH(4) loading test (20mg/kg bw) in 462 patients. Residual PAH activity of mutant proteins was calculated from available in vitro expression data. Data were tabulated in the BIOPKU database (www.biopku.org). RESULTS: Eighty-eight mutations were observed, the most common missense mutations being the splice variant c.1066-11G>A (24.6%). Twenty novel mutations were detected (11 missense, 4 splice-site, and 5 deletion/insertions). Two mutations were observed in 540/588 patients (91.8%) but in 9 patients atypical genotypes with >2 mutations were found (8 with p.R155H in cis with another variant) and in 19 patients mutations were found in BH(4)-metabolizing genes. The most common genotype was c.1066-11G>A/c.1066-11G>A (15.5%). Approximately 22% of patients responded to BH(4) challenge. A substantial in vitro residual activity (average >25% of the wild-type enzyme) was associated with response to BH(4). In homozygous genotypes (n=206), both severity of the phenotype (r=0.83) and residual PAH activity (r=0.85) correlate with BH(4) responsiveness. CONCLUSION: Together with the BH(4) challenge, these data enable the genotype-based classification of BH(4) responsiveness and document importance of residual PAH activity. This first report of a large-scale genotype assessment in a population of Turkish PKU patients also documents a high prevalence (47%) of the severe classic phenotype

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients. The questionnaire designed for the study evaluates clinical and biochemical features at both initial presentation and during follow up. Also the development of severity scores allows investigation of individual disease load, statistical evaluation of parameters between the different age of presentation groups, as well as a search for correlations between clinical endpoints and potential modifying factors. RESULTS: No major differences were found between neonatal and early onset patients so that these groups were combined as an infantile-onset group representing 88 % of all cases. Hypotonia, lethargy, feeding problems and developmental delay were predominant in this group, while late-onset patients frequently presented with psychiatric/behaviour problems and myelopathy. Plasma total homocysteine was higher and methionine lower in infantile-onset patients. Plasma methionine levels correlated with "overall impression" as judged by treating physicians. Physician's impression of patient's well-being correlated with assessed disease load. We confirmed the association between homozygosity for the c.271dupA mutation and infantile-onset but not between homozygosity for c.394C>T and late-onset. Patients were treated with parenteral hydroxocobalamin, betaine, folate/folinic acid and carnitine resulting in improvement of biochemical abnormalities, non-neurological signs and mortality. However the long-term neurological and ophthalmological outcome is not significantly influenced. In summary the survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria