Objective voice changes in nondysphonic Parkinson's disease patients

OBJECTIVE: To obtain objective acoustic analysis results from Parkinson's disease patients who do not have voice symptoms and to compare these results with those from age- and sex-matched control subjects. DESIGN: Prospective. SETTING: Tertiary reference hospital. METHOD: The objective acoustic analysis results from 14 female Parkinson's disease patients with no voice symptoms were compared with those of 22 age- and sex-matched normal subjects. RESULTS: Statistical analysis revealed no differences in mean fundamental frequency and shimmer values. However, differences in jitter values, loudness, and the harmonics to noise ratio were statistically significant between the two groups (p < .05). CONCLUSION: With this study, it was shown that Parkinson's disease patients who do not have any voice symptoms have objectively different acoustic values than their age- and sex-matched controls. Clinicians must be aware of these initial findings on the voice changes of Parkinson's disease patients.     

Acquired von Willebrand syndrome in a patient with Ewing sarcoma

Acquired von Willebrand syndrome is a rare bleeding disorder with clinical and laboratory features closely resembling to hereditary von Willebrand disease. The syndrome may accompany various conditions, including malignant disorders, most often with Wilms tumor and adrenal cell carcinoma. In this report, the authors present a patient with AvWS in association with Ewing sarcoma for the first time in the literature. The abnormal bleeding tendency was successfully treated with fresh frozen plasma and did not recur after the first two courses of chemotherapy with clinical improvement.     

Vertebral artery hypoplasia as an independent risk factor of posterior circulation atherosclerosis and ischemic stroke

Vertebral artery hypoplasia (VAH) is a frequent anatomical variation of vertebral arteries, with emerging evidence suggesting that it contributes to posterior circulation ischemia. However, the relationship between VAH and ischemic stroke remains unknown. Hence, this study aimed to determine the prevalence of VAH in patients diagnosed with acute ischemic stroke who were followed up in a neurology clinic and to determine if it can potentially be a risk factor for atherosclerotic stenosis in vertebrobasilar circulation.This retrospective study included 609 patients diagnosed with acute ischemic stroke between January 1, 2019 and January 1, 2020. Demographic of patients, risk factors, radiological and clinical characteristics were evaluated.Posterior circulation was very common in patients with VAH, and the most common locations of atherosclerotic stenosis were V1 and V4 segments of the vertebral artery and the middle segment of basilar artery. Analysis of the risk factors for atherosclerotic stenosis in patients with posterior circulation acute ischemic stroke suggested that VAH was an independent risk factor.Findings of the study suggest that VAH pre-disposes atherosclerotic stenosis in vertebrobasilar circulation, although its mechanism remains unknown. Hemodynamic parameters associated with atherosclerosis could not be measured in vivo. Thus, to better understand the underlying mechanism, conducting studies that examine blood flow parameters with high-resolution magnetic resonance angiography in patients diagnosed with acute cerebral ischemia patients with VAH is warranted.     

The contribution of diffusion-weighted MR imaging in multiple sclerosis during acute attack

PURPOSE: The aims of the study are firstly, to determine the difference in diffusion-weighted imaging (DWI) in normal appearing white matter (NAWM) between patients with acute multiple sclerosis (MS) and controls; secondly, to determine whether there is a correlation between EDSS scores and DWI in acute plaques and also NAWM. MATERIALS AND METHOD: Out of 50 patients with acute MS attack, 35 patients had active plaques with diffuse or ring enhancement on postcontrast images. Eighteen healthy volunteers constituted the control group. While 26 of 35 had relapsing-remitting, 9 had secondary progressive MS. Apparent diffusion coefficients (ADC) of the active plaques, NAWM at the level of centrum semiovale and occipital horn of lateral ventricle in the patients and NAWM in control group were measured. ADC values of active plaques were compared with WM of the patients and the control group. The relationship of ADC value of active plaques and WM in MS with expanded disability status scale (EDSS) was investigated by using Mann-Whitney U-test. RESULTS: Of 63 plaques totally, 26 and 37 of the active plaques had diffuse and ring enhancement, respectively. There was no statistically significant difference between ADC value of active plaques and EDSS (p>0.05). However, there was a statistically significant difference between ADC value of WM occipital horn and EDSS (p<0.05). ADC value of active plaques were higher than WM in both groups (p<0.001). The difference between ADC value of WM at the centrum semiovale (p<0.05) and occipital horns (p<0.001) in patients and controls was statistically significant. There was no statistically significant difference between EDSS scores, ADC value at centrum semiovale and WM around occipital horn and active plaques in subgroups (p>0.05). CONCLUSION: Apparently normal tissue in MS patients may show early abnormalities when investigated carefully enough, and there is an even though moderate correlation between EDSS and ADC values and early alterations of ADC value are starting in the occipital white matter along the ventricles. This has to be verified in larger series.     

Cystoid macular oedema following pneumatic retinopexy vs scleral buckling

AIMS: To determine the incidence of angiographic cystoid macular oedema (CMO) following pneumatic retinopexy (PR) and scleral buckling (SB) in consecutive case series. METHODS: Patients who had successful anatomical attachment following PR and SB were included in our study; 132 patients had PR and 121 patients had SB. We evaluated the demographic characteristics, visual acuity, lens status, macular status, and previous ocular history in all patients. CMO was evaluated by fluorescein angiography (FA) in a masked pattern, 6 and 12 weeks after surgery in all cases. We analysed the CMO incidence and its correlation with preoperative ocular status and visual outcome. Chi2 and Fisher's exact tests were used in statistical analysis. RESULTS: CMO was present in 15 of 132 (11%) PR, and 35 of 121 (29%) SB patients at 6 weeks (P=0.0005); the oedema was persistent in eight of 132 (6%) PR and 21 of 121 (17%) SB patients at 12 weeks (P=0.0005). Eight of 106 (8%) phakic and seven of 26 (27%) pseudophakic patients developed CMO following PR (P=0.02). In the SB group, 26 of 72 (36%) patients who had preoperative macular detachment developed CMO (P=0.03). Visual improvement was limited in patients who developed angiographic CMO despite anatomical re-attachment of the retina. CONCLUSIONS: CMO may occur following both PR and SB and deteriorate the visual outcome. Previous cataract surgery and macular detachment may increase the CMO rates following PR and SB, respectively.     

N-acetyltransferase polymorphism in patients with Behçet's disease

OBJECTIVES: The objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Beh?et's disease. METHODS: Eighty-five patients with Beh?et's disease gave their written informed consent to participate in the study. Seven point mutations (G191A, C282T, T341C, C481T, A803G, G590A, G857A) in the NAT2 gene were analysed using polymerase chain reaction/restriction fragment length polymorphism techniques. In addition, each patient received 100 mg dapsone orally to determine their NAT2 phenotype. Dapsone and its metabolite monoacetyl-dapsone were measured in 3-h plasma samples using high-performance liquid chromatography. Subjects with an acetylation ratio (monoacetyl-dapsone/dapsone) less than 0.4 were defined as slow acetylators. RESULTS: Of 85 patients with Beh?et's disease, 54 (63.5%) were identified as genotypically slow acetylators. However, 60% (51 of 85) of patients were diagnosed as slow acetylators according to monoacetyl-dapsone/dapsone ratio. Thus, a low incidence of genotype/phenotype discrepancy (3.5%) was observed in Turkish patients with Behcet's disease. When we compared our results with previous phenotyping and genotyping studies in the Turkish population, frequencies of slow and rapid acetylators were not statistically different in patients with Beh?et's disease. The frequency of the *5B allele was found to be slightly higher in patients with Beh?et's disease than historic controls (44.7 vs 35.6%, P = 0.039). However, there was no significant difference in the frequency of the overall genotypes and alleles of NAT2 between patients and controls. CONCLUSION: Although the frequency of the NAT2*5B allele, responsible for slow acetylation, was slightly higher in patients than historic controls, our results failed to show an association between NAT2-acetylator status and risk for developing Beh?et's disease.     

Bilateral percutaneous nephrolithotomy in a patient with hemophilia A disorder

A 50-year-old man with hemophilia A presented with recurrent hematuria due to renal stone disease. He was receiving approximately 50,000 units of recombinant factor (rF) VIII concentrate every year due to hematuria. Between 1996 and 2002, his serum creatinine level increased from 0.7 to 1.2 ng/ml. In an effort to resolve the problems of excessive blood loss with transfusions, recurrent rF VIII replacements and deteriorating renal function, he was offered treatment with percutaneous nephrolithotomy (PNL) in conjunction with rF VIII administration. He underwent left PNL for left staghorn calculi in November 2002 with administration of 52,000 units rF VIII, and another PNL for the right kidney in April 2004 with the administration of 90,500 units rF VIII. A pneumatic lithotriptor was used in both operations. The serum creatinine level was 0.8 ng/ml upon completion of treatment and the patient was symptom and stone free at 10-month follow-up. He has not suffered from hematuria since that time. We conclude that bleeding disorders may not be a contraindication for PNL if corrected and monitored appropriately.     

Primary tuberculous liver abscess: a case report and review of the literature

A 48-year-old diabetic man was admitted to our hospital with abdominal pain in the right upper quadrant, weight loss, night sweats, fatigue, and anorexia. Ultrasonography, computed tomography, and magnetic resonance imaging of the abdomen revealed multiple hemangiomas and a hypodense mass lesion in the posterior segment of the right hepatic lobe. Histopathologic examination of the specimens obtained by ultrasonography-guided percutaneous needle biopsy revealed caseating granulomas with epithelioid histiocytes and giant cells. Systemic antituberculous therapy led to improvement of the lesion in the liver without necessitating surgery or percutaneous drainage. Tuberculosis should be considered in the differential diagnosis of hepatic mass lesions, especially in the presence of immune-compromised states. Ruling out tuberculosis may avoid delay in initiation of specific therapy in some cases. A greater awareness of this rare clinical entity may prevent needless surgical interventions.     

Relationship Between the Levels of Holotranscobalamin and Vitamin B<Subscript>12</Subscript> in Children

The purpose of this study was to evaluate the relationship between the plasma holoTC and serum vitamin B₁₂ in children and to identify a cutoff cobalamin values according to holoTC. One hundred and fifty-five children were enrolled into the study. All children were evaluated for hemoglobin, vitamin B₁₂, folate, ferritin and holoTC levels. Children were grouped as with low vitamin B₁₂ level (≤200 pg/mL, group I) and normal vitamin B₁₂ (>200 pg/mL, group II). Serum vitamin B₁₂, and holoTC levels were performed in each patient in the study. In 101 patients with low vitamin B₁₂ (group I) the mean holoTC was 21.74 ± 1.14 pmol/L. In 54 children with normal vitamin B₁₂ (group II) mean holoTC was 44.0 ± 2.7 pmol/L (p < 0.01). A ROC curve analysis was performed to delineate the optimum cut-off point for vitamin B₁₂ level and it was found to be 165 pg/mL with a sensitivity of 70% and specificity of 74%; the area under curve was 0.783 (p < 0.01). Our study displayed a positive correlation between vitamin B₁₂ and holoTC, and defined an optimum cutoff value for vitamin B₁₂ as 165 pg/mL. Further studies using the markers both MMA, tHcy and holoTC to confirm the findings are needed.