Moyamoya syndrome associated with sickle cell trait in a child

Moyamoya syndrome is a chronic, progressive occlussion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyamoya syndrome associated with sickle cell trait. To date, two such cases have been reported in the literature. As far as we know, this patient is the first child reported.     

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.Methods:Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of “in silico” analyses, protein prediction, and functional consequences.Results:Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.Conclusion:Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.     

Using two-holed needles for both arterial and venous accesses to the arteriovenous fistula to improve flow during hemodialysis

This prospective study compared methods using both arterial and venous needles with back eyes with those using only arterial needle with back eye for arteriovenous fistula cannulation. Sixty-one patients receiving hemodialysis (HD) via an arteriovenous fistula were evaluated. All patients underwent arteriovenous fistula puncture using only arterial needle with back eye in first 3 months and both arterial and venous needles with back eyes in following 3 months. Arterial and venous pressures, blood flow velocities, total blood volume cleared, and Kt/V values were compared. Mean blood flow velocity, arterial pressure, Kt/V, and cleared total blood volume values were higher and venous pressure was lower in patients who underwent cannulation using both needles with back eyes than in those with only the arterial needle with back eye. For arteriovenous fistula cannulation, using both arterial and venous needles with back eyes provides adequate HD more successfully.     

Effects of TSH-suppressive therapy on cardiac morphology and function: beneficial effects of the addition of beta-blockade on diastolic dysfunction

OBJECTIVE: To investigate the effects of long-term levothyroxine (LT4) suppressive therapy on the heart and the effects of beta-blockade on cardiac functions. DESIGN: Twelve female patients receiving LT4, selected from a group of patients with TSH levels of 0.1-0.4 microU/ml, were evaluated. The control group consisted of 11 healthy subjects and 12 patients with TSH levels <0.05 microU/ml. METHODS: Cardiac evaluation consisted of a 12-lead electrocardiogram and an echocardiographic study. Left ventricular mass index (LVMI), isovolumetric relaxation time (IVR), left ventricular end systolic (LVESD) and diastolic diameters, early (VE) and late (VA) diastolic flow velocities and fractional shortening were evaluated. Exercise capacity was assessed with a bicycle ergometer. Both work load and maximal exercise time were measured. Atenolol was given to the patient group at a dosage of 50 mg/day for 3 months and evaluations were repeated. RESULTS: On basal evaluations, LVMI (96+/-17 vs 78+/-21 g/m(2)) and IVR (101+/-9 vs 91+/-4 ms) were found to be increased in the patients taking LT4 (P<0.01). LVESD was also lower than controls (P<0.05). A decrease in VE and an increase in VA were also observed in the patients (P<0.01). IVR decreased after atenolol (92+/-10 vs 101+/-9 ms, P<0.05). LVMI decreased and VE and VA improved but did not reach statistical significance after beta-blockade. Baseline work load and maximal exercise duration were significantly lower in the patients and improvements were observed after atenolol treatment. CONCLUSIONS: These results indicated that cardiac dysfunction may occur even when TSH is suppressed to 0.1-0.4 microU/ml with LT4. beta-blockade improved the cardiac functions.     

Pharmacological profile of survivors of acute myocardial infarction at Turkish academic hospitals

AIM: The purpose of this study was to document treatment profiles in 850 patients surviving acute myocardial infarction at 17 academic hospitals in Turkey. METHODS AND RESULTS: Pharmacological management data of acute myocardial infarction survivors were collected and divided into three categories: drugs which patients received before hospitalization, during the hospitalization, and at hospital discharge. Data regarding medical history, complications during hospitalization, MI extent (Q wave or non-Q wave), infarct location and diagnostic and revascularization procedures were also recorded. This study is based on the 850 patients who met the diagnostic criteria for initial acute MI in the period examined. Among 850 patients with myocardial infarction enrolled 408 (48%) received thrombolytic therapy. The median time interval from symptom onset to initiation of thrombolytic therapy was 196 min. The most commonly used thrombolytic agent was streptokinase (93%). Thrombolytic recipients were younger, and presented sooner after onset of symptoms. Among patients receiving thrombolytic therapy, concomitant pharmacotherapy included aspirin (95%), intravenous heparin (93%), intravenous nitroglycerin (91%), oral beta-blockers (44%), calcium channel antagonists (13%), and angiotensin converting enzyme inhibitors (41%). The lipid lowering therapy was only used in 4% of all patients, and was given to 18% of patients with hyperlipidemia. CONCLUSION: Current usage rates of thrombolytic therapy in Turkey are lower than expected, but when compared with previous reports it increased. Although adjunctive treatment with intravenous heparin and intravenous nitroglycerin is usually used, beta-blockers appear to be underused and calcium channel blockers appear to be overused. The lipid reducing therapies were infrequently prescribed.     

HLA class 1 associations in Henoch Schonlein purpura: increased and decreased frequencies

Henoch Schonlein purpura (HSP) is the most common vasculitis of childhood. Susceptibility to HSP and associated clinical heterogeneity in HSP may be conferred by a number of genetic loci, including the major histocompatibility complex. We aimed to investigate the implications of the human leukocyte antigen (HLA) class 1 alleles in susceptibility to HSP and determine the possible associations with renal, gastrointestinal (GI), and joint manifestations of the disease. 110 children with HSP (66 boys, 44 girls) and 250 unrelated healthy controls were enrolled in the study. The mean age was 8.65 ± 3.59 years. HSP was diagnosed on the basis of clinical and laboratory data according to the American College of Rheumatology classification. The diagnosis was supported with skin and/or kidney in most of the patients. Clinical and laboratory findings revealed: skin involvement in 110 (100%), joint manifestations in 82 (74.5%), GI symptoms in 58 (52.7%), and hematuria and/or proteinuria in 36 (32.7%) patients. HLA class 1 alleles were identified by DNA amplification, hybridized with specific primer sequences. Comparison of frequencies between patients and controls were made by using the Fisher’s exact test. Odds ratio (OR) was used as the measure of association. HLA A2, A11, and B35 antigens showed an increased risk for predisposition to HSP (OR = 1.714, 95%CI = 1.088–2.700, p = 0.020; OR = 2.185, 95%CI = 1.289–3.703, p = 0.003; and OR = 2.292, 95%CI = 1.451–3.619, p = 0.000, respectively), while HLA A1, B49, and B50 antigens revealed decreased risk for predisposition to HSP (OR = 4.739, 95%CI = 1.828–12.345, p = 0.001; OR = 3.268, 95%CI = 0.955–11.236, p = 0.047; and OR = 7.462, 95%CI = 0.975–55.555, p = 0.024, respectively). Considering the renal involvement and severity of proteinuria, there was no association with HLA class 1 alleles. Our results suggest that the increased frequency of HLA A2, A11, and B35 alleles in unselected pediatric HSP patient population and miscarrying of HLA A1, B49, and B50 could be considered as a risk factor for susceptibility to HSP.     

Treatment outcome of relapse and defaulter pulmonary tuberculosis patients.

SETTING: Tuberculosis clinic in a referral hospital. OBJECTIVE: To evaluate the effect of risk factors on the outcome of retreatment in relapse and defaulter pulmonary tuberculosis patients. DESIGN: A total of 57 retreatment tuberculosis patients treated and monitored in our centre between January 1997 and June 1999 were evaluated with respect to treatment outcome. Factors which have on effect on treatment outcome were investigated. RESULTS: Of 57 patients, 37 (64.9%) were classified as relapse cases and 20 (35.1%) as defaulters. The treatment success rate was 71.9% (68.4% cure rate and 3.5% completion rate). Failure was encountered in 22.8%. Twenty-six patients (45.6%) exhibited resistance to at least one drug, namely rifampicin. The multidrug-resistance (MDR) rate was 18.5%. Treatment success rates were 100% and 50%, respectively, in patients in whom susceptibility to all drugs and resistance to at least one drug were detected. Successful outcome was possible in 68.8% of patients with any rifampicin resistance and in 20% of patients with MDR tuberculosis. Retreatment resulted in failure in 80% and 100%, respectively, of patients whose sputum cultures remained positive at the end of the second and third months. CONCLUSION: Drug resistance proved the most important factor affecting treatment outcome. Success rates in retreatment of patients with any rifampicin resistance or MDR tuberculosis are low. Conversion to negative sputum results at the end of the second and third months of retreatment seems to be a significant parameter for a successful outcome.     

Treatment in patients with low traumatic pneumothorax ratio

Thoracostomy tube placement (TT) is currently one of the most important treatment modalities used in traumatic pneumothorax patients. In patients with low pneumothorax ratio (percentage), both follow-up without surgery and employing intervention when indicated may be appropriate choice. We presented the outcome of patients with low traumatic pneumothorax ratio treated by follow up without surgical intervention in our clinic. During the period from January 2000 until January 2002, 108 patients who were treated and followed with low percentage traumatic pneumothorax in Ankara Numune Hospital Thoracic Surgery Clinic were allocated into three groups due to blunt trauma of the thorax, penetrating-cutting instrument injury and gunshot injury. All patients were admitted to the clinic with the purpose of observation without surgical intervention and chest roentgenograms were taken at the sixth and twelfth hours and daily thereafter. TT was performed for 46 (43%) patients whose pneumothorax ratio increased during the observation period. TT was more frequent in patients with 20% percentage pneumothorax (69%) as well as with two or more fractured ribs (69%). Follow-up without surgical intervention may one of the appropriate modes of treatment in patients who have minimal traumatic pneumothorax.