Funda Aydin

Renal function after hematopoietic stem cell transplantation in children

The aim of this study was to assess glomerular and tubular renal function after HSCT in children in a prospective trial.

Spontaneous periodic hypothermia and hyperhidrosis.

We present a patient diagnosed with Shapiro syndrome without corpus callosum agenesis. A 4-year-old-girl was admitted to the hospital with complaints of sweating, cooling, and drowsiness that continued during the last week of her admission. Attacks occurred almost daily, and lasted for about 1 hour. All laboratory findings, as well as Holter and echocardiography results, were normal. Cranial magnetic resonance imaging demonstrated an intact corpus callosum, and electroencephalography obtained during an attack revealed normal findings. However, technetium 99m-labeled hexamethylpropylene amine oxime brain single-photon emission computed tomography indicated increased perfusion in the right thalamus, basal ganglia, and inferior frontal areas during a hypothermic period. Although oxcarbazepine reduced the frequency of attacks, they were not halted completely. The patient responded better to carbamazepine.

Technetium-99m hexamethyl propylene amine oxime-labeled leukocyte scintigraphy at three different times in active ulcerative colitis: comparison with colonoscopy and clinico-biochemical parameters in the assessment of disease extension and severity

ObjectiveIn this study, our objective was to define the usefulness of technetium-99m hexamethyl propylene amine oxime (Tc-99m HMPAO)-labeled leukocyte scintigraphy at three different time points in the assessment of disease extension and severity in patients with active ulcerative colitis (UC).MethodsTwenty-one consecutive patients (10 women, 11 men; mean age 42.4 ± 12 years) with active UC were prospectively studied. All patients were diagnosed by colonoscopy and histopathology prior to inclusion. Scintigraphy was performed at 1 h, 2 h, and 4 h after Tc-99m HMPAO-labeled leukocyte injection. Clinic-biochemical activity score, total colonoscopic activity score, and total scintigraphic activity score at 1 h, 2 h, and 4 h were calculated for each patient.ResultsSensitivity, specificity, and accuracy values of Tc-99m HMPAO-labeled leukocyte scintigraphy were calculated as follows, respectively: 1 h imaging 86%, 73%, and 83%; 2 h imaging 89%, 74%, and 86%; 4 h imaging 90%, 58%, and 83% in the detection of active inflammatory segments. Even though no statistically significant difference was found between 1 h, 2 h, and 4 h imaging with respect to the sensitivity, specificity of labeled leukocyte scintigraphy, the largest area under the curve value was found for 2 h imaging.ConclusionsTc-99m HMPAO-labeled leukocyte scintigraphy has been found to be correlated well with colonoscopy in the assessment of both the extension and severity of UC. We recommend 2 h scintigraphic imaging because it provides the largest area under the curve value and decreases the number of false-positive results.

Can serum cystatin C reflect the glomerular filtration rate accurately in pediatric patients under chemotherapeutic treatment? A comparative study with Tc-99m DTPA two-plasma sample method.

ObjectiveIt was assessed whether cystatin C (cysC) could be used as a marker of glomerular filtration rate (GFR) by considering the technetium-99m diethylenetriamine penta-acetate (Tc-99m DTPA)-two blood sample method (GFRTc-99m DTPA) as the reference in pediatric patients under chemotherapeutic treatment. MethodsThe chemotherapy group (CG) consisted of 31 patients (21 females, 10 males median age: 8.2 years; range: 2–16 years) who had been planned to receive allogenic hematopoietic stem cell transplantation. All patients in the CG received conditioning regimen (includes chemotherapy protocol) before hematopoietic stem cell transplantation. In addition, 21 patients (14 females, seven males median age: 9.5 years; range: 4–16 years) without any chemotherapy (nonchemotherapy group: nCG) were also prospectively investigated. Serum cysC, serum creatinine, GFRTc-99m DTPA, and GFR with a cysC-based formula (GFRcysC) were analyzed. Tubular function was also assessed. ResultsAlthough we found good correlation between GFRTc-99m DTPA and cysC (r = −0.78), GFRTc-99m DTPA and GFRcysC (r = 0.91), cysC and creatinine (r = 0.91) in nCG, the same correlations were poor in CG (r = −0.42, r = 0.43, r = 0.46, respectively). Tubular function was impaired after chemotherapy. Bias±1.96 SD values were −6±15.7 and −3±54.8 ml/min/1.73 m2 in nCG and CG, respectively. Precision was also better in nCG (10 ml/min/1.73 m2) than in CG (27.6 ml/min/1.73 m2). ConclusionSerum cysC and GFRcysC cannot reflect GFR accurately in pediatric patients under chemotherapeutic treatment. Tubular cell damage induced by chemotherapeutics could be a responsible factor through the impairment of tubular absorption and metabolism of cysC.

Tc-99m HMPAO brain SPECT findings in mild and moderate Alzheimer's disease: Correlation with event related potentials

We investigated whether brain SPECT findings show any differences between patients with mild and moderate Alzheimers disease (AD) and to compare results with event related potentials (ERPs). Twenty-two patients with mild to moderate AD diagnosed according to NINCDS-ADRDA criteria and 10 age-matched control subjects were included in this prospective study. All subjects underwent ERP recordings and Tc-99m HMPAO brain SPECT study. Cortical perfusion index (CPI) was calculated as the ratio of cortical activity to the cerebellum activity. CPI was found to be statistically lower in bilaterally posterolateral temporal cortex and precuneus in the moderate AD compared to the control group. There was no statistically significant difference between the mild AD and control groups for CPI in any cortical areas. The mean P300 latency was statistically prolonged in the mild and moderate AD compared to the control group. In addition, in moderate AD P300 latency was longer than in mild AD. While the mean P300 amplitude was statistically reduced in moderate AD compared to the control and mild AD, there was no statistically significant difference between the mild AD and control groups. There was a strong negative correlation between P300 latency and CPI in the right and left precuneus in the moderate AD group. The present study suggested that Tc-99m HMPAO SPECT study is the more appropriate technique for patients with moderate AD rather than mild AD. Our results indicated that alterations in ERPs, especially prolongation of P300 latency could be a finding that occurred earlier than the deterioration in cerebral blood flow. We thought that precuneus is closely related to cognitive function and may have an important role in the pathophysiology of AD.

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation

The objective was to determine molecular genetic analysis of the TPO gene in Turkish children with iodide organification defect (IOD). Patients with a diagnosis of primary hypothyroidism were evaluated. Subjects having a definite diagnosis of autoimmune thyroiditis, thyroid gland dysplasia and, or iodine deficiency were excluded. A total of 10 patients from nine unrelated Turkish families, with an unknown etiology of hypothyroidism, and with a presumptive diagnosis of IOD were included in the study. A perchlorate discharge test (PDT) was performed to all subjects, and sequence analysis of TPO gene was applied in patients with a positive PDT. Five out of 10 patients have a total IOD, while the five remaining patients have a partial IOD according to PDT results. In two sisters, one has a partial and the other one has a total IOD a novel homozygous nonsense p.Q315X mutation was found in exon 8. Additionally, a previously known homozygous missense p.R314W mutation was detected in the same exon in another patient with a total IOD. No TPO gene mutation was detected in any of the seven remaining patients. Two different TPO gene mutations were found to be responsible for IOD in two unrelated Turkish families from the same ethnic background. More subjects should be screened for detecting the prevalence and spectrum profile of TPO mutations in our population that might be helpful for understanding the pathophysiology of congenital hypothyroidism.

Evaluation of eNOS gene polymorphisms in relation to BMD in postmenopausal women

OBJECTIVE The aim of the present study was to evaluate the relations between T(-786)C and Glu298Asp polymorphisms of the endothelial nitric oxide synthase (eNOS) gene and BMD in postmenopausal Turkish women. METHODS The T(-786)C and Glu298Asp polymorphisms were genotyped by PCR-RFLP method in 311 postmenopausal osteoporotic women (OP) and in 305 age-matched postmenopausal females (CG) with normal BMD. RESULTS None of the SNPs of the eNOS gene was significantly associated with BMD at the lumbar spine, femoral neck, Wards triangle and femoral trochanter in the combined group. Mean BMD values were therefore found to be similar across the genotypes in postmenopausal Turkish women. However, there was a significant association between the T(-786)C polymorphism and BMD values at the lumbar spine in the normal control group (P=0.005), and at the femoral trochanter in the osteoporotic patients (P=0.046). The mean value of the lumbar spine BMD in the normal controls was significantly higher in women with the TC genotype of the T(-786)C polymorphism than in women with the TT genotype (P=0.0012). Women with the CC genotype of the T(-786)C polymorphism in the osteoporotic patients had significantly higher BMD value at the femoral trochanter than those with the TC (P=0.018) and TT genotypes (P=0.024). Frequencies of the TC heterozygotes for T(-786)C polymorphism were significantly higher among osteoporotic subjects than normal controls. Also, the CC and TT genotype frequencies of control group were significantly higher than those of the osteoporotic group at the femoral neck. CONCLUSIONS We conclude that, although the biological role of the nitric oxide synthases is well established, our study does not suggest that eNOS gene polymorphisms, T(-786)C and Glu298Asp, are major contributors to adult bone mineral density in the postmenopausal Turkish women.

Tc-99m Labeled HMPAO white Blood Cell Scintigraphy in Pediatric Patients.

Objective: 99mTc labeled hexamethylpropylene amine oxime (HMPAO) white blood cell (WBC) scintigraphy is a frequently used option for acute infection, particularly in pediatric patients. This scintigraphy is applied to detect sites of infection/inflammation in patients with fever of unknown origin, to find and follow up osteomyelitis, and to detect suspicion of acute appendicitis. The aim of this retrospective study was to evaluate the value of 99mTc-HMPAO labeled WBC scintigraphy in pediatric patients. Material and Methods: The study was conducted between January 2006 and December 2008 and included 13 patients (5 boys, 8 girls; mean age 6.9±6.2 years). Those patients who had suspicion of bone infection (n=7), fever of unknown origin (n=3), and suspicion of acute appendicitis (n=3) were evaluated retrospectively. 99mTc-HMPAO labeled WBC scintigraphy imaging was performed to all patients. Diagnosis was done according to operation and pathological results or clinical follow-up. Results: 99mTc-HMPAO labeled WBC scintigraphy has been found to be true positive in 6 cases, true negative in 6 cases, and false negative in one patient who had fewer unknown origin. The false negative case has been found to have encephalitis with MRI. Conclusion: Leukocyte scintigraphy has been described as a useful diagnostic tool in the diagnosis of suspicion of bone infection, fever of unknown origin and suspicion of acute appendicitis. 99mTc-HMPAO labeled WBC scintigraphy is a rapid and very accurate method for detecting those pathologies. Our results showed that WBC scintigraphy might be reliably used for diagnosis of suspected bone infection and acute appendicitis, fever of unknown origin, and acute appendicitis, in pediatric patient population. Conflict of interest:None declared.

Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).

AIM To determine the final diagnosis of patients with subclinical hypothyroidism (SCH), and to perform mutation screening of the thyroid peroxidase gene (TPO). METHODS Infants with SCH without an identified etiology were included in the study. Patients with thyroid dysgenesis were excluded. Children > or = 2 years of age, and still on L-thyroxine (LT4) treatment underwent a diagnostic algorithm. After LT4 was discontinued for 4 weeks, thyroid function tests (TFT) were obtained. A perchlorate discharge test (PDT) was performed in patients with normal thyroid ultrasound but abnormal TFT. Sequence analysis of TPO was studied in all children who underwent a PDT. RESULTS Forty-eight patients (23 males and 25 females) completed the trial. Among these children, 19 (39.5%) had transient SCH, and 29 (60.5%) had permanent SCH. Among patients with permanent SCH, 19 had thyroid hypoplasia, six had partial iodide organification defect with positive PDT, and four had other dyshormonogenesis with negative PDT. Mean LT4 dose before the medication ceased was 1.2 +/- 0.5 microg/kg/day in transient cases, and 1.7 +/- 0.4 in those with permanent SCH (p < 0.05). No TPO mutation was detected. However, in five patients, seven different previously known TPO polymorphisms were detected: c.102C > G, L4L; > A, A576A; c.2088C > T, D666D; c.2263A > C, T725P; c.2630 T >C, V847A. CONCLUSIONS LT4 treatment should be stopped after the age of 2 years in infants with SCH without a definite pathology of the thyroid gland to exclude cases with transient hypothyroidism. Additionally, we should consider particularly thyroid gland hypoplasia, and also partial defects in iodide organification in infants with SCH.

68Ga-PSMA Uptake by Dermatofibroma in a Patient With Prostate Cancer.

Prostate-specific membrane antigen (PSMA) is a typ. 2 transmembrane protein that is highly expressed in prostate cancer cells. Ga-PSMA PET/CT imaging is a modality used to determine the extent of prostate cancer. Various other neoplasias may also express PSMA, which appears as Ga-PSMA uptake in PET/CT imaging. A 71-year-old man with prostate cancer underwent Ga-PSMA PET/CT imaging for restaging after having an elevated prostate-specific antigen level. Subcutaneous lesions showing focal PSMA uptake were detected, one of which was excised. The histopathologic diagnosis was dermatofibroma.