Genotype Distribution and Prevalence of Human Papillomavirus in Head and Neck Cancer Samples from Istanbul, Turkey

Human papillomavirus (HPV)-associated tumors account for a significant proportion of head and neck squamous cell carcinomas (HNSCC) in developed countries. In recent years, there has been a rise of HPV infections associated with HNSCC, especially HPV16, which is the most commonly detected type in oral and oropharyngeal cancers. To investigate the frequency of HPV-driven HNSCC among patients living in Turkey, HPV DNA positivity and p16INK4A expression were assessed in primary tumor biopsies (n = 106). Eighteen out of one hundred and six (19%) HNSCC tumors showed p16INK4A overexpression, and 26/106 cases (24.5%) were positive for HPV DNA. Sixteen out of twenty-six samples were positive for both HPV DNA and p16INK4A staining. HPV16 could be isolated from 22/26 samples (84.6%) and was found to be the most frequently detected HPV type. This study represents the largest cohort of Turkish patients with HNSCC characterized according to HPV status and p16INK4A expression. Our data suggest that HPV16 infection, along with smoking, contribute to the development of HNSCC.

A Linguistic Profile of Narrative Speech in Early and Late-Onset Alzheimer’s Disease

Objective. Alzheimer’s Dementia is defined as multiple impairments in cognitive functions and language impairment is one of the observed problems in this disease. In order to analyse these problems, narrative speech transcriptions of Turkish patients with early and late-onset Alzheimer’s Disease (AD) and an age/education-matched control group were examined. Materials & Methods. By using different language tests, the sentence production of Turkish patients with early (n: 23) and late-onset (n: 39) was examined and the results were compared within groups and within language tests. Our aim was to reveal the differences in sentence processing of Turkish Alzheimer patients. Results. According to the results, Turkish Alzheimer patients use short and simple sentences composed of fewer words in their speech. It was determined that these patients performed better in Picnic Picture Description test, which is thought to be easy to describe. In Cookie Theft Picture Description test, which is a complex one, and in the Subject-based Narration test, it was found that the speech amounts of AD patients were less. It was revealed that early-onset AD patients used shorter sentences including fewer words compared to late-onset AD patients. Conclusion. In the light of the data obtained, it can be said that AD patients have different sentence processing than normal individuals because of the problems in the language and memory areas of the disease. The fact that sentence processing is different means that these patients do not prefer the types of sentences that normal individuals prefer in their speeches, and use less words and simpler sentences.

Evaluation of the correlation between the Istanbul Low Back Pain Disability Index, Back Pain Functional Scale and other back pain disability scales in Turkish patients with low back pain

BACKGROUND: Low back pain is an important health problem that may cause functional loss. Several back pain disability scales have been developed in different languages. OBJECTIVE: The present study evaluates the correlation between the Istanbul Low Back Pain Disability Index (ILBPDI) the Back Pain Functional Scale (BPFS) and other back pain disability scales in patients with mechanical low back pain. METHODS: Included in the study were 105 patients who presented to our outpatient clinics and who were diagnosed with mechanical low back pain. The ILBPDI, BPFS, Quebec back pain disability scale (QBPDS) and Oswestry low back pain disability questionnaire (ODI) were administered to all participants, and Visual analogue scale (VAS) scores were recorded. RESULTS: A strongly negative correlation was identified between ILBPDI and BPFS (p< 0.05), and a strongly positive correlation was noted between ILBPDI and QBPDS, ODI and VAS. CONCLUSION: A strong correlation exists between ILBPDI and BPFS, and a further strong correlation between ILBPDI ODI and QBPDS. These questionnaires can be used interchangeably to evaluate disability associated with chronic mechanical low back pain.

Molecular characterization, phylogenetic and variation analyses of SARS-CoV-2 strains in Turkey

Aims: We present the sequence and single-nucleotide polymorphism (SNP) analysis for 47 complete genomes for SARS-CoV-2 isolates on Turkish patients. Methods: The Illumina MiSeq platform was used for sequencing the libraries. The SNPs were detected by using Genome Analysis Toolkit – HaplotypeCaller v.3.8.0 and were inspected on GenomeBrowse v2.1.2. Results: All viral genome sequences of our isolates were located in lineage B under the different clusters, such as B.1 (n = 3), B.1.1 (n = 28) and B.1.9 (n = 16). According to the Global Initiative on Sharing All Influenza Data nomenclature, all of our complete genomes were placed in G, GR and GH clades. In our study, 549 total and 53 unique SNPs were detected. Conclusion: The results indicate that the SARS-CoV-2 sequences of our isolates have great similarity with all Turkish and European sequences.

Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features

Spondylometaepiphyseal dysplasia short limb-abnormal calcification type (SMED-SL/AC) is a rare autosomal recessive disorder. It is a severe dwarfism syndrome with a characteristic feature of progressive calcification of epiphyseal and other cartilaginous tissues. It is caused by pathogenic variants in the <i>DDR2</i> gene encoding the discoidin domain receptor tyrosine kinase 2. Thus far, 37 cases and 8 pathogenic variants have been reported. Most of the reported cases are of Middle Eastern and Puerto Rican origins. Only one Turkish case has been reported previously with a novel truncating variant p.(R489*). Here, we report 2 new cases, 1 with a novel variant p.(S311G) and 1 with a splice site variant c.2283+1G&#x3e;A. In addition, we reviewed a previously reported case, and sequencing of stored DNA revealed the recently reported nonsense variant p.(R489*) as the underlying cause. Therefore, our data increase the number of SMED-SL/AC Turkish patients with molecular results to 4. Furthermore, we compared the features of Turkish patients with other reported cases and expanded the characteristics of the disorder with new features such as triventricular hydrocephalus, intracranial hemorrhage, hypopigmentation of hair, dry and scaly skin, arthralgia, and hypocalcemia. We also compared the pathogenic variants of Turkish patients with other variants, aiming to explain the mechanism leading to a more severe and early fatal course in Turkish patients.