Bone mineral density in response to two different regimes in rickets

The aim of this study was to compare the bone mineral density (BMD) of two different treatment regimens in infants with nutritional vitamin D deficient rickets (VDR). Ten patients (Group 1) were treated with a single dose of 600,000 IU of oral vitamin D3 and another ten patients (Group 2) were treated with 20,000 IU/day of oral vitamin D3 for 30 days. BMD was measured in the lumbar spine twice in all infants before the treatment and on the 31st day after initiating the treatment. The increases of BMD after treatment compared to pretreatment levels were statistically significant in both groups (P = 0.005 in Group 1 and P = 0.047 in Group 2). The increments of BMD were statistically similar between Group 1 and 2 (P = 0.096). The present study suggests that these two different treatment regimens bring about similar healing in BMD.     

Genomic alterations in low-grade,anaplastic astrocytomas and glioblastomas

To extend our understanding of potential stepwise genetic alterations that may underlie tumor progression from low-grade astrocytomas to glioblastomas, histopathologic and comparative genomic hybridization analyses were performed on tumor specimens from 68 primary lesions, including 40 glioblastomas, 10 anaplastic and 18 low-grade astrocytomas. The number of aberrations per case increased towards the higher grade tumors (grade II: 1.66±1.49; grade III: 2.80±1.68; grade IV: 3.02±1.07; F=6.955, p=0.002). A gain of 7/7q was common and the most frequently seen aberration in low-grade astrocytomas, whereas loss of 10q was the most frequently seen anomaly in anaplastic astrocytomas and glioblastomas. Chromosome 7p amplification was only detected in glioblastomas. Chromosome 10/10q deletion and combination of lp, 19q and 17p deletions were specific to high-grade astrocytic tumors. Sequences of chromosome 7 and 10 seem to have pivotal roles in the biology of human gliomas. The genomic copy deletions of chromosomes lp and 19q might provide an alternative mechanism in the genesis of astrocytomas.     

Prevalence and predictors of benign lesions in renal masses smaller than 7 cm presumed to be renal cell carcinoma

PurposeTo determine the association between preoperative parameters with final benign pathology in patients who underwent surgical removal of solitary renal masses <7 cm in diameter.Materials and MethodsA database of 450 patients without metastatic disease who underwent radical nephrectomy or nephron-sparing surgery (NSS) for removal of renal masses <7 cm between January 1990 and December 2009 was reviewed. Age, sex, symptoms, year and type of surgery, solid or cystic appearance, and tumor size were analyzed as presumed predictors of benign pathology. Multivariate analysis was performed to identify parameters associated with benign pathology.ResultsIn all, 88 (19.9%) of the tumors were benign, including 39 (8.7%) oncocytomas and 22 (4.9%) angiomyolipomas. The benign lesion rate for tumors ≤2, 2.1-4, and 4.1-7 cm was 30.3%, 27.1%, and 12.5%, respectively (2P < .001). For the periods of 1990-1996, 1997-2003, and 2004-2009, the frequency of benign tumors was 25%, 17.3%, and 18.4% (2P = .271), the incidental tumor rate was 48.1%, 60.4%, and 63.8% (2P = .027), mean tumor size was 5, 4.6, and 4.1 cm (2P < .001), and the NSS rate was 28.8%, 43.2%, and 52.7% (2P < .001), respectively. Logistic regression analysis revealed that female sex, NSS, surgery between 1990 and 1996, cystic components on imaging, and small tumors (<4 cm) based on radiologic examination were independently associated with benign pathology (odds ratio [OR] = 3.26, 2.56, 2.43, 2.41, and 1.96, respectively).ConclusionsThe incidence of incidental and small tumors amenable to NSS increased over time. Female sex was the strongest predictor of benign pathology.     

Exploring the relationship between the severity of oligozoospermia and the frequencies of sperm chromosome aneuploidies

The study was aimed to investigate the association between the degree of oligozoospermia and sperm chromosome aneuploidy frequencies in male infertility and to determine whether chromosomal profiles of sperm nuclei would be used for a supportive test before additive reproduction technics. The meiotic segregation profiles of chromosomes X, Y, 13, 18 and 21 were compared by fluorescent in‐situ hybridisation (FISH) on the spermatozoa of 30 normally karyotyped oligozoospermic (10 mild, 11 moderate, nine severe) cases without Y‐microdeletions, and 10 normozoospermic cases. The results showed significantly higher frequencies of chromosomes 13, 18, 21 disomies (P < 0.001) in the group of patients with moderate and severe oligozoospermia compared with the disomy frequencies of normozoospermic group. The statistically significant differences were also determined in disomy frequencies of sex chromosomes (XY, XX and YY) in between oligozoospermic and normozoospermic groups (P < 0.001, P < 0.001, P < 0.040, respectively). Because oligozoospermic patients are the ones consulted the most for assisted reproductive techniques, identification of sperm aneuploidy rates in men could be considered as an appropriate supportive test before the reproductive implementations. Furthermore, the patients should be counselled with respect to genetic screening results for the potential risk of aneuploid embryo and pre‐implantation genetic diagnosis or prenatal diagnosis.     

Antimicrobial susceptibility of Streptococcus pneumoniae in the oropharynx of healthy preschool children and identification of risk factors

To determine the prevalence and antimicrobial susceptibility of Streptococcus pneumoniae in the oropharynx of healthy children, throat swabs were obtained from 683 children and cultured. The disk diffusion method and the E test were used to test the antimicrobial susceptibility of the isolated organisms. Twenty-nine children (4.2%) harbored S. pneumoniae in their oropharynx. Fifteen (51.7%) of the isolates showed intermediate resistance to penicillin and 14 (48.3%) were susceptible. All strains were susceptible to rifampicin and moxifloxacin. One was resistant to telithromycin. The rates of resistance to clindamycin, erythromycin, chloramphenicol and tetracycline were 41.3, 44.8, 34.4, and 44.8%, respectively. Risk factors for S. pneumoniae carriage were also assessed.     

Liver biopsy in the diagnosis of visceral leishmaniasis

Aim: To determine whether liver biopsy might be useful in the diagnosis of visceral leishmaniasis when bone marrow examination and serologic tests are inconclusive. Methods: Over a 10‐year period, liver biopsy was performed in five children with suspected visceral leishmaniasis when indirect hemagglutination tests and bone marrow aspirations were not diagnostic. Results: Leishmania amastigotes were seen in Kupffer cells in all patients. The accompanying liver histopathological findings were ischemic necrosis in two children, macrovesicular steatosis in two children, portal inflammatory inflammation in two children, and piecemeal necrosis in one child. During the study period, 32 additional pediatric visceral leishmaniasis cases were diagnosed by bone marrow examination. Conclusion: Liver biopsy can be recommended for diagnosing suspected visceral leishmaniasis in children when serology and bone marrow aspiration are inconclusive.     

Detection of chromosomal imbalances in spinal meningiomas by comparative genomic hybridization

Little is known about genetic mutations during the malignant progression of spinal meningiomas. This study investigated genomic changes across the entire genome in spinal meningioma samples to determine possible mechanism(s) of tumorigenesis. Paraffin-embedded tissue sections of 16 spinal meningiomas were analyzed by the comparative genomic hybridization (CGH) technique. Lymphocytes of the patients were evaluated as controls. Genomic change was detected in 11 samples. Complete or partial loss of chromosome 22 was the most commonly seen abnormality in eight cases. Chromosome losses on 1p, 9p, and 10q and gains on 5p and 17q were the other abnormalities. These changes are all frequently seen in meningiomas, but are mostly specific to atypical and anaplastic meningiomas. However, in the present study, copy number changes on chromosomes 9p (3 samples), 17q (2 samples), and 1p (2 samples) were seen even in the benign tumors. Our results suggest that in addition to the neurofibromatosis type 2 tumor suppressor gene, other cancer-related genes located on 1p, 9p, 10q, and 17q might be involved in the etiology of spinal meningiomas.