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1.
Mol Psychiatry ; 2024 Feb 21.
Article in English | MEDLINE | ID: mdl-38383768

ABSTRACT

White matter (WM) fiber tract differences are present in autism spectrum disorder (ASD) and could be important markers of behavior. One of the earliest phenotypic differences in ASD are language atypicalities. Although language has been linked to WM in typical development, no work has evaluated this association in early ASD. Participants came from the Infant Brain Imaging Study and included 321 infant siblings of children with ASD at high likelihood (HL) for developing ASD; 70 HL infants were later diagnosed with ASD (HL-ASD), and 251 HL infants were not diagnosed with ASD (HL-Neg). A control sample of 140 low likelihood infants not diagnosed with ASD (LL-Neg) were also included. Infants contributed expressive language, receptive language, and diffusion tensor imaging data at 6-, 12-, and 24 months. Mixed effects regression models were conducted to evaluate associations between WM and language trajectories. Trajectories of microstructural changes in the right arcuate fasciculus were associated with expressive language development. HL-ASD infants demonstrated a different developmental pattern compared to the HL-Neg and LL-Neg groups, wherein the HL-ASD group exhibited a positive association between WM fractional anisotropy and language whereas HL-Neg and LL-Neg groups showed weak or no association. No other fiber tracts demonstrated significant associations with language. In conclusion, results indicated arcuate fasciculus WM is linked to language in early toddlerhood for autistic toddlers, with the strongest associations emerging around 24 months. To our knowledge, this is the first study to evaluate associations between language and WM development during the pre-symptomatic period in ASD.

2.
Curr Urol ; 12(3): 158-163, 2019 May 10.
Article in English | MEDLINE | ID: mdl-31316325

ABSTRACT

INTRODUCTION: To investigate renal papillae attenuation value differences between controls and stone-forming (SF) patients and to evaluate the impact of mean Hounsfield unit (HU) measurements on the predictivity of stone development. MATERIALS AND METHODS: We compared papillae attenuation values in SF groups and a healthy stone-free control group. Metabolic evaluations were carried out on 88 primary and 98 recurrent SF patients, and 94 age-matched control patients were included. The papillae tip attenuation was measured using non-enhanced computed tomography scans in HU for an area with a mean size of 0.2 cm2. Inclusion criteria to the study were known stone composition (CaOx), unilaterality, and radiological examinations done in our center. RESULTS: In this study, 186 patients who met the criteria and 94 age-matched control patients were divided into 3 groups: the primary SF (Group 1), the recurrent SF group (Group 2), and the control group (Group 3). Metabolic variables which were compared between primary and recurrent SF did not show any significant difference, except urinary volume and phosphorus. The median (interquartile range) value of papillae HU density for the control group was 26.23 (3.84), for primary SF group it was 26.50 (11.25), and for recurrent SF group it was 29 (13). A significant difference in papilla HU levels for each group was found (p = 0.008). CONCLUSION: This study implied that HU values reflect the severity of the stone disease, although they could not discriminate controls from primary stone formers whose stone forming risk is lower compared to recurrent stone formers.

3.
BMC Med Genomics ; 10(Suppl 2): 45, 2017 07 26.
Article in English | MEDLINE | ID: mdl-28786359

ABSTRACT

BACKGROUND: One of the tasks in the iDASH Secure Genome Analysis Competition in 2016 was to demonstrate the feasibility of privacy-preserving queries on homomorphically encrypted genomic data. More precisely, given a list of up to 100,000 mutations, the task was to encrypt the data using homomorphic encryption in a way that allows it to be stored securely in the cloud, and enables the data owner to query the dataset for the presence of specific mutations, without revealing any information about the dataset or the queries to the cloud. METHODS: We devise a novel string matching protocol to enable privacy-preserving queries on homomorphically encrypted data. Our protocol combines state-of-the-art techniques from homomorphic encryption and private set intersection protocols to minimize the computational and communication cost. RESULTS: We implemented our protocol using the homomorphic encryption library SEAL v2.1, and applied it to obtain an efficient solution to the iDASH competition task. For example, using 8 threads, our protocol achieves a running time of only 4 s, and a communication cost of 2 MB, when querying for the presence of 5 mutations from an encrypted dataset of 100,000 mutations. CONCLUSIONS: We demonstrate that homomorphic encryption can be used to enable an efficient privacy-preserving mechanism for querying the presence of particular mutations in realistic size datasets. Beyond its applications to genomics, our protocol can just as well be applied to any kind of data, and is therefore of independent interest to the homomorphic encryption community.


Subject(s)
Computer Security , Data Mining/methods , Genomics , Algorithms , Feasibility Studies
4.
Cureus ; 9(11): e1833, 2017 Nov 09.
Article in English | MEDLINE | ID: mdl-29333356

ABSTRACT

Testicular cancer represents approximately 1% of all cancers diagnosed in males. The prevalence of bilateral testicular germ cell tumor cases varies from 1% to 5%. Intratubular germ cell neoplasia (ITGCN) is a precursor for almost all testicular germ cell tumors (TGCT) and is one of the highest risks of developing contralateral testicular cancer. The radical orchiectomy is still preferred for the treatment of testicular cancer. However, in some cases like solitary testis, bilateral cancer or if the tumor size is under 30% percent of the testicular extent, organ-sparing surgery can be an option. There are just a few published reports of metachronous contralateral testicular cancer, developed after orchiectomy with the histopathology of the intratubular germ cell neoplasia.

5.
Cureus ; 9(11): e1848, 2017 Nov 15.
Article in English | MEDLINE | ID: mdl-29348991

ABSTRACT

Introduction Our aim was to contribute a study that includes a higher patient population to the limited number of studies comparing tamsulosin and silodosin in the treatment of distal ureteral stones. Material and methods Patients who presented with renal colic to the urology emergency clinic and were diagnosed with ureteral stones and followed-up with conservative treatment between January 2010 and January 2016 were retrospectively screened. According to the inclusion-exclusion criteria, the patients were divided into three groups. Group 1: 150 patients followed with watchful waiting (WW), Group 2: 156 patients who received 0.4 mg of tamsulosin daily, and Group 3: 159 patients who received 8 mg of silodosin daily. The side effects of the used drugs, duration of stone reduction, and expulsion rates were evaluated and compared separately. Results A total of 465 patients were included in the study. No statistically significant difference was found in terms of age, gender, and stone size among the groups. The patient characteristics and results are shown in Table 1. The differences in stone expulsion rate between the groups in the first week were calculated using the Chi-square test and found to be non-significant (p = 0.155); whereas, the stone expulsion rates between Group 1 versus Group 2 and Group 1 versus Group 3 were found to be significantly different after the second and third week. Conclusion According to our results, no statistically significant superiority between tamsulosin and silodosin was shown in the treatment of distal ureteral stones in the Turkish population.

6.
Cureus ; 9(11): e1860, 2017 Nov 19.
Article in English | MEDLINE | ID: mdl-29375946

ABSTRACT

Malignant mesothelioma of the tunica vaginalis testis (MMTVT) is an extremely rare tumour, usually mimicking benign pathologies of the scrotum. Our case is an 84-year-old male patient who appealed with a painless, left-sided scrotal swelling longer than 2 months. Although the level of tumour markers was normal, ultrasonographic examination results forced us to perform an inguinal scrotal exploration. Multiple small papillary tumours, both on tunica vaginalis and tunica albuginea, were detected intraoperatively. Due to these findings, radical orchiectomy was performed. A pathological evaluation showed malignant mesothelioma (MM) of the tunica vaginalis testis. Exposure to asbestos is a well-known risk factor. Furthermore, a history of trauma, herniorrhaphy and chronic hydroceles is blamed as a possible risk factor. Scrotal ultrasonography is the mainstay of primary diagnosis and, therefore, it should not be overlooked when dealing with benign scrotal cysts or hydroceles, which are very common pathologies at these decades, too. Radical inguinal orchiectomy is the primary treatment choice for localised MMTVT disease, whereas in signs of lymph node metastasis, inguinal lymph node dissection is required. Radical resection should be completed with chemotherapy and/or radiotherapy for an advanced or recurrent disease. This case, which is very rarely reported in the literature and detected during inguinal exploration, along with the pathological works that supported the diagnosis, was presented with this report.

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