Turkish Patients Research Articles

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

To assess the disease burden of familial partial lipodystrophy (FPLD) caused by LMNA (FPLD2) and PPARG (FPLD3) variants to augment the knowledge of these rare disorders characterized by selective fat loss and metabolic complications. An observational longitudinal study, including 157 patients (FPLD2: 139 patients, mean age 46 ± 17 years, 70% women; FPLD3: 18 patients, mean age: 44 ± 17 years, 78% women) from 66 independent families in two countries (83 from Turkey and 74 from Spain), was conducted. Patients were diagnosed at a mean age of 39 ± 19 years, 20 ± 16 years after the first clinical signs appeared. Men reported symptoms later than women. Symptom onset was earlier in FPLD2. Fat loss was less prominent in FPLD3. In total, 92 subjects (59%) had diabetes (age at diagnosis: 34 ± 1 years). Retinopathy was more commonly detected in FPLD3 (P < .05). Severe hypertriglyceridaemia was more frequent among patients with FPLD3 (44% vs. 17%, P = .01). Hepatic steatosis was detected in 100 subjects (66%) (age at diagnosis: 36 ± 2 years). Coronary artery disease developed in 26 patients (17%) and 17 (11%) suffered from a myocardial infarction. Turkish patients had a lower body mass index, a higher prevalence of hepatic steatosis, greater triglyceride levels and a tendency towards a higher prevalence of coronary artery disease. A total of 17 patients died, with a mean time to death of 75 ± 3 years, which was shorter in the Turkish cohort (68 ± 2 vs. 83 ± 4 years, P = .01). Cardiovascular events were a major cause of death. Our analysis highlights severe organ complications in patients with FPLD, showing differences between genotypes and Mediterranean countries. FPLD3 presents a milder phenotype than FPLD2, but with comparable or even greater severity of metabolic disturbances.

Factors Affecting Daily Functioning in Turkish Patients with Obstructive Sleep Apnea.

Background and Objectives: This study aims to examine the factors affecting the daily functioning of patients with obstructive sleep apnea (OSA). Materials and Methods: In addition to the polysomnography records of 361 patients, participants completed the Turkish FOSQ-10 (Functional Outcomes of Sleep-10), Medical Outcome Survey Short Form-12, Epworth Sleepiness Scale (ESS), Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI). First, the psychometrics properties of the Turkish FOSQ-10 were evaluated. Then, factors affecting daily functioning were examined through univariate and multivariate analyses. Results: Of all participants, 68.7% (n = 248) were male, and the average age was 47.94 ± 11.08. According to the OSA category, 23% (n = 83) were mild, 22.7% (n = 82) were moderate, 45.2% (n = 163) were severe, and 9.1% (n = 33) were OSA negative. The Turkish FOSQ-10 was found to be a valid and reliable scale through validity and reliability analyses. The moderate and severe OSA patients had different FOSQ-10 Total scores compared to the negative OSA group. Daily functioning was positively associated with overall quality of life while inversely associated with depression, being anxious, and daytime sleepiness in OSA patients. In a multiple regression model, BDI, mental component summary-12, physical component summary-12, and ESS scores were significantly related to the FOSQ-10 Total score in OSA patients (p < 0.05). Conclusions: The daily functioning of moderate and severe OSA patients was worse than that of the negative OSA group. Depression, quality of life, and daytime sleepiness were simultaneously important variables associated with daily functioning in OSA patients.

HUMAN PAPILLOMA VIRUS-RELATED ORAL MUCOSAL LESIONS IN TURKEY: A RETROSPECTIVE COHORT STUDY.

The human papillomavirus (HPV) is the aetiological agent of a variety of oral mucosal benign and pre/malignant lesions, which demonstrate a wide range of prevalence according to geographic regions. This study specifically examined the typing of HPV-associated oral mucosal lesions in Turkish patients. The DNA from FFPE blocks of 228 lesions was utilised for this purpose. A total of 87 oral mucosal lesions were classified as benign, 68 as premalignant, and 73 as malignant. DNA from these lesions was amplified using PCR, and genotypes were identified using restriction fragment length polymorphisms (RFLP). HPV DNA was identified in 17 out of 228 patients, indicating a prevalence incidence of 7.4%. In benign oral lesions, the prevalence of HPV DNA was 9.2% (8/87 cases), whereas in premalignant, oral epithelial dysplasia (OED) and oral squamous cell carcinoma (OSCC) lesions, it was 6.9% (9/141 cases). A significant statistical difference was found between patients who tested positive for HPV and those who tested negative in terms of the location of the lesion and the age of the patients (p=0.0097, p=0.02, respectively). This study underscores the considerable prevalence of HPV infection in oral mucosal lesions among individuals in Central Anatolia, Turkey.

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline.

Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases. This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variants. The study included cases whose genetic analysis was performed in accordance with the Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update Guidelines recommendations criteria and analyzed them using the next-generation sequencing panel. 61 Turkish patients from 45 families were included in the study. The overall frequency of variant detection was 37.7% (Out of 45 families, 17 had a positive mutation). Segregation was carried out for all families with positive variants. Variants in the TPO gene are the most frequently encountered, and this situation was identified in 10 families. Variants followed this in the TSHR gene in 7 families, variants in the DUOX2 gene in 5 families, and two variants in the TG and NKX2-1 genes in 2 families each, which are six novel variants. Furthermore, among the NKX2-1 cases, one had thyroid involvement only, while the other had chorea only. We did not find differences between cases with detected mutations and mutation-negative cases regarding gender, neonatal/perinatal parameters, initial thyroid function values, and thyroid morphology. In the current investigation, rare new variations in genes known to be related to CH were discovered, adding to the molecular genetic spectrum. When we compare the overall variant detection frequency, the selection criterion for genetic analysis based on the current guidelines is quite rational, considering the benefits and costs, on the other hand, present in new genes awaiting discovery. Also, TSHR mutations are likely to be common and may account for more than 5% of thyroid dysgenesis cases if we include non-familial thyroid dysgenesis.

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

The aim of this study was to investigate whether a short exon screening consisting of selected variants could confirm the diagnosis in patients with a preliminary diagnosis of familial Mediterranean fever (FMF), thus providing a cost-saving alternative to a comprehensive MEditerranean FeVer (MEFV) gene sequence analysis test. This observational study on pediatric patients focused on clinically suspected FMF cases without prior genetic analysis. Participants met the Turkish pediatric FMF criteria. They underwent short exon screening for M694V, M680I, V726A, and E148Q variants. Those who were heterozygous or negative on short exon screening received further MEFV gene sequence analysis. The study involved 1557 patients. Pathogenic variants in both alleles of the MEFV gene were found in 611 patients (39.2%), and a high-penetrance variant in heterozygosity or an E148Q variant on the other allele was found in 643 patients (41.3%). A further 189 patients (12.1%) had one or two E148Q variants. Short-exon screening was negative in 114 patients (7.6%). Of the 876 patients who underwent MEFV gene sequence analysis, additional variants were found in 72 of the 762 initially heterozygous patients. Of the 114 initially negative patients, 34 had homozygous or compound heterozygous variants, and 74 had heterozygous variants. Ultimately, only 6 patients yielded negative results in the MEFV gene sequence analysis. The short exon screening for common MEFV mutations offers a practical and cost-saving alternative to comprehensive MEFV gene sequence analysis in populations with a high prevalence of FMF.

Self-Efficacy Predicts Patient-Reported Outcomes Measurement Information System (PROMIS) Health-Related Quality of Life Outcomes in Turkish Patients on Dialysis Better than the 36-Item Short Form Health Survey (SF-36)

Self-Efficacy Predicts Patient-Reported Outcomes Measurement Information System (PROMIS) Health-Related Quality of Life Outcomes in Turkish Patients on Dialysis Better than the 36-Item Short Form Health Survey (SF-36)

Frequency and relationship of HLA allele in Turkish patients with Fanconi anemia

Purpose: Fanconi anemia (FA) is a childhood disorder inherited in an autosomal recessive manner. It is characterized by bone marrow failure, a range of congenital physical abnormalities, increased susceptibility to cancer, chromosomal instability, and heightened sensitivity to cross-linking agents. The aim of this study was to determine the role of the HLA Class I and Class II alleles in genetic susceptibility to Fanconi anemia in Turkish patients. Materials and Methods: In this study, we retrospectively evaluated the HLA-A, -B, and -DRB1 allele frequencies of patients with Fanconi anemia who underwent hematopoietic stem cell transplantation between 2010 and 2021. HLA-A, -B, -DR of all patients and healthy Turkish individuals were genotyped. Results: The study included 86 patients with Fanconi anemia and 300 healthy controls. The most common antigens in patients with Fanconi were HLA-A*02, HLA-B*35 and DRB1*11. Moreover, in the patient group, the HLA-A*23 allele was significantly lower than the control group. When we evaluated the patient group according to gender the HLA-A*01 allele was significantly higher in the female patient group. Conclusion: Our study provides valuable insights into the genetic susceptibility of Turkish patients with Fanconi anemia, focusing on the role of HLA Class I and Class II alleles. HLA-B*14 may be a risk factor and HLA-A*23 may be protective for Fanconi anemia. These results contribute to our understanding of the complex genetic factors underlying Fanconi anemia and may have implications for improved diagnosis, prognosis, and potential therapeutic interventions for affected individuals.

Efficacy of favipiravir in COVID-19: A retrospective two center comparative study.

Favipiravir (FVP) is an antiviral, targeting RNA-dependent RNA polymerase. We aimed to evaluate the efficacy of FVP as a treatment for COVID-19. We conducted a retrospective study in two centers (San Martino University Hospital in Genova, Italy, and Marmara University Pendik Training and Research Hospital, Turkey). Adult patients (inpatients) diagnosed with COVID-19 between March and June 2020 were included. All patients in the Italian center received the standard of care (SoC) treatment, while in the Turkish center patients received FVP in addition to SoC. Six hundred-nineteen patients were analyzed (225 from Turkey, all treated with FVP, and 394 from Italy, none treated with FVP). Propensity score-matching was done in 142 patients (71 from the SoC group vs. 71 from the SoC + FVP group). A Higher requirement of NIV/CPAP (n = 38; 53.5%) was registered in the SoC group compared to the SoC + FVP group (n = 9; 12.7%). A higher frequency of intubation was registered in the SoC + FVP group (n = 25; 35.2% vs n = 13, 18.3%). There was a trend towards better survival in SoC + FVP treated patients with HR = 0.64 (95% CI 0.30-1.34). At 28 days the OS was, respectively, 70.3% (95% CI: 53.2-82.1) vs 80.3% (95% CI: 69.0-87.8). The addition of FVP to SoC did not show a significant difference in survival and invasive and noninvasive (CPAP/NIMV) mechanical ventilation compared to standard of care in moderate and severe COVID-19-infected patients.

Assessing the reliability and readability of migraine treatment information on Turkish websites

BackgroundThe quality and safety of information provided on online platforms for migraine treatment remains uncertain. We evaluated the top 10 trending websites accessed annually by Turkish patients seeking solutions for migraine treatment and assessed information quality, security, and readability in this cross-sectional study.MethodsA comprehensive search strategy was conducted using Google starting in 2015, considering Türkiye’s internet usage trends. Websites were evaluated using the DISCERN measurement tool and Ateşman Turkish readability index.ResultsNinety websites were evaluated between 2015 and 2024. According to the DISCERN measurement tool, most websites exhibited low quality and security levels. Readability analysis showed that half of the websites were understandable by readers with 9th − 10th grade educational levels. The author distribution varied, with neurologists being the most common. A significant proportion of the websites were for profit. Treatment of attacks and preventive measures were frequently mentioned, but some important treatments, such as greater occipital nerve blockade, were rarely discussed.ConclusionThis study highlights the low quality and reliability of online information websites on migraine treatment in Türkiye. These websites’ readability level remains a concern, potentially hindering patients’ access to accurate information. This can be a barrier to migraine care for both patients with migraine and the physician. Better supervision and cooperation with reputable medical associations are needed to ensure the dissemination of reliable information to the public.

Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome.

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recessive inheritance. ICF syndrome. It has been reported that ICF syndrome is caused by mutations in the DNMT3B (ICF1), ZBTB24 (ICF2), CDCA7 (ICF3), and HELLS (ICF4) genes. As a result of literature research, there are no studies on transcription factor and cytokine expressions of helper T cell subsets in ICF syndrome. In the study; Th1 (TBET, STAT1, STAT4), Th2 (GATA3, STAT6), Th17 (RORgt, STAT3), Treg (FoxP3, STAT5) transcription factors and the major cytokines of these cells (Th1; IFNG, Th2; IL4, Th17; IL17A-21-22, Treg; IL10, TGFβ) expressions were aimed to be evaluated by qRT-PCR. Patients (ICF3: three patients; ICF2: two patients), six heterozygous individual and five healthy controls were included in the study. All patients had hypogammaglobulinemia. Except for the CD19 cells of P2 from patients diagnosed with ICF3, the CD3, CD4, CD8, and CD19 cells in the other ICF3 patients were normal. However, the rates of these cells were low in patients with ICF2 syndrome. Factors belonging to patients' Th1, Th17 and Treg cells were significantly lower than the control. Additionally, novel mutation was detected in ZBTB24 gene (c.1121-2A > T). Our study is the first molecular study on Th cell subsets in patients with ICF syndrome and a new mutation that causes ICF2 syndrome has been identified.

Cross-cultural adaptation of the Avoidance of Daily Activities Photo Scale for Turkish patients with shoulder pain: Reliability and validity assessment according to the COSMIN guideline

ContextPeople with chronic or long-term pain may develop various psychosocial symptoms such as fear and avoidance of behavior due to pain. Reliable and valid quality of life tools must be available in Turkish to specifically assess avoidance of behavior in people with shoulder pain. ObjectivesThis study aimed to translate and culturally adapt the Avoidance of Daily Activities Photo Scale for Patients with Shoulder Pain and to evaluate the psychometric properties of its Turkish version (ADAP-Tr) in patients with shoulder pain. MethodsTranslation, adaptation, and validation were performed according to the COSMIN (COnsensus-based Standards for the selection of health Measurement INstruments) guidelines. The internal consistency, reliability, construct validity, and discriminant validity of the ADAP-Tr were tested. The Pain Catastrophizing Scale (PCS), Tampa Scale for Kinesiophobia (TSK), and Shoulder Pain and Disability Index (SPADI) were applied for validation purposes. ResultsThe study included a total of 162 participants with shoulder pain. The internal consistency of the ADAP-Tr showed excellent reliability with a Cronbach's α of 0.94 and a test-retest assessment of 0.88 ICC (95% CI, 0.83-0.91). The standard error of measurement was 1.85 points, and the minimal detectable change was determined 5.12 points. There was a low to high correlation among the ADAP-Tr and PCS (r = 0.481, p < .001), TSK (r = 0.448, p < .001), and SPADI (r = 0.826, p < .001) scores. ConclusionsThe ADAP-Tr was shown to be a valid and strong reliability tool to use in clinical and research settings as a shoulder-specific measurement tool.

Validity and Diagnostic Ability of Pancreatic Exocrine Insufficiency Questionnaire in Turkish Patients.

Pancreatic exocrine insufficiency (PEI) is a prevalent disease that is often underdiagnosed and undertreated, leading to resulting in diminished health-related quality of life. The PEI questionnaire (PEI-Q), a patient-reported outcome questionnaire developed to diagnose and evaluate PEI, is available only in English. The study aimed to provide a Turkish translation of PEI-Q and validate its reliability and diagnostic performance in a Turkish-speaking population with PEI. This study included 161 participants: 98 patients with PEI and 63 healthy controls. Participants underwent the PEI-Q test, and the results were statistically analyzed for reliability and validity. The diagnostic value of PEI-Q was determined using receiver operating characteristic (ROC) curves. Cronbach's alpha was used to assess internal consistency, while exploratory factor analysis was performed to determine construct validity and reveal the factor structure. The mean age of participants was 45.0 years, and 60.2% were male. Participants with PEI were significantly older than those without. Scores for abdominal, bowel movement, and total symptoms were significantly higher in patients with PEI than in controls. ROC analysis revealed good diagnostic value for PEI-Q, with areas under the curve ranging from 0.798 to 0.851 for different symptom scores. Cronbach's alpha coefficients were above 0.70, indicating good internal consistency, and exploratory factor analysis supported a 4-factor structure, accounting for 68.9% of the total variance. The Turkish version of the PEI-Q is a reliable, easy-to-use, and valid screening tool for diagnosing PEI. It consistently assesses symptoms and quality of life in patients with PEI, helping to inform diagnosis and treatment.

Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia

Introduction: The inducible degrader of low-density lipoprotein (IDOL) receptor, an E3 ubiquitin ligase, was recently identified as a regulator of the LDL receptor (LDLR) pathway. Shortly, IDOL stimulates LDLR degradation through ubiquitination. However, the association of IDOL gene variants with plasma lipid levels is controversial. No previous study in the Turkish population has reported the relationship between variants of the IDOL gene and low-density lipoprotein cholesterol (LDL-C) levels. Our study aims to investigate the effects of genetic variants in the human IDOL gene, which may be a therapeutic target in human cholesterol metabolism, on LDL-C levels. Methods: We sequenced all coding, critical intronic, and untranslated regions of the IDOL gene in 125 controls (77 women, 48 men) and 125 patients (64 women, 61 men) with definite or probable familial hypercholesterolemia (FH) according to the criteria of the Dutch Lipid Clinic Network, in whom no pathogenic/likely pathogenic LDLR variants are present. Results: We identified 12 different IDOL gene variants, including the p.(N342S) and p.(G51S), whose association with LDL-C levels has been investigated, and classified them into common and rare variants. A rare variant p.(G51S) was only detected in patients the patient group. We compared the minor allele frequency (MAF) distribution of common variants between patient and control groups and examined the association of their genotypic distribution with plasma LDL-C levels using genetic models (dominant, recessive, overdominant, codominant). There was no statistically significant difference in the parameters of the patient and control groups (p > 0.05). Conclusion: Our findings suggest that the common IDOL variants we identified do not associate with the LDL-C level in the Turkish population. Rare variants that were not found to be statistically significant in our study, should be emphasized, and supported with further research.

Psychometric Properties of the Turkish Version of Self-Efficacy Measure for Sleep Apnea (SEMSA) Instrument.

Determining the self-efficacy perceptions of obstructive sleep apnea (OSA) patients has a key role in health care practices. With further evaluation, the Self-Efficacy Measure for Sleep Apnea (SEMSA) could serve as a useful scale to develop specific interventions to increase self-efficacy in patients with OSA during the acceptance and maintenance of continuous positive airway pressure (CPAP) therapy. The aim of this study is to translate the SEMSA into Turkish and to evaluate the psychometric properties of the translation. This cross-sectional study was carried out with a sample of patients recently diagnosed with CPAP-naïve OSA. Linguistic and content validity of the scale were evaluated, while exploratory factor analysis and 2-level confirmatory factor analysis were used for validity. Internal consistency and test-retest methods were used in reliability analyses. The mean (SD) age of the patients with OSA was 51.36 (11.29), and 68% were male. The item factor loads obtained as a result of the confirmatory factor analysis ranged from 0.44 to 0.94, confirming the three-factor structure of the instrument. The Cronbach's α coefficient of the scale was found to be 0.90. Measurements made within the scope of test-retest analysis were found to be related and consistent results were obtained in the intervening time (P < .01). In this study, the Turkish version of SEMSA was found to be a valid and reliable tool and it could be used to evaluate the adherence-related cognition in Turkish patients with OSA on CPAP therapy.

The effect of the MBL2 gene rs1800450 variant on COVID-19 development in Turkish patients

The coronavirus disease 2019 (COVID-19) is a recent pandemic occurring worldwide due to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus, spreading mainly through large respiratory droplets or maybe through other transmission routes. The human genome has the most varied immune response genes correlated with infectious diseases. Genetic variants of mannose-binding lectin 2 (MBL2), an immunomodulatory gene, were associated with the risk, severity, and frequency of viral infections. In the present study, we hypothesized that the MBL2 gene rs1800450 variant could be associated with the development of COVID-19 disease in a Turkish population. Ninety-eight COVID-19 patients and 98 healthy, ethnically matched controls were studied. We isolated genomic DNA from whole blood and analyzed the MBL2 rs1800450 using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Associations were analyzed with the SPSS 20 statistical software. We found that MBL2 rs1800450 genotype distribution was significantly different between patients and controls. The patients had a higher MBL2 rs1800450 AA genotype than the controls had (4.94% in patients vs. 3.12% in controls, p = 0.006). The subjects carrying AA genotype had a 10.83-fold increased risk for COVID-19 disease (OR = 10.83, %95 CI = 1.359–86.349). We could not detect any significant difference between the COVID-19 patients and healthy controls in allele frequencies. Our findings demonstrated that the MBL2 rs1800450 BB genotype might increase the susceptibility to COVID-19 disease in the Turkish population. We suggest further studies with a larger sample size and other ethnic populations.

Clinical and genetic diagnosis of two Turkish patients with hereditary spherocytosis

Hereditary spherocytosis is a congenital disorder caused by defects in the erythrocyte membrane. It is characterized by hemolytic anemia, jaundice, splenomegaly, and cholelithiasis. The clinical presentation is variable. Especially in the neonatal period and cases without a family history, it isn't easy to diagnose with classical approaches. Here, we describe the genetic findings of a 1.5-month-old and a 2-month-old girl diagnosed with hereditary spherocytosis in Turkish families. Both cases presented with severe anemia and jaundice. Spherocytes were frequently seen in peripheral blood smears. Targeted next-generation sequencing (NGS) revealed that the 1.5-month-old girl was heterozygous for a novel frameshift mutation c.1617del (p.Leu540CysfsTer31) in exon 15 of the ANK1 gene, while the 2-month-old girl was heterozygous for a mutation c.1912C&amp;gt;T (p.Arg638Ter) in exon 13 of the SPTB gene, which leads to abnormal protein truncation. Parents did not carry these mutations. To our knowledge, the ANK1 mutation identified in a 7-month-old girl has not been reported previously. NGS may be helpful in diagnosing hereditary spherocytosis, especially in atypical cases.

Effect of VDR and TLR2 gene variants on the clinical course of patients with COVID-19 disease.

The coronavirus disease 2019 (COVID-19) pandemic, which has caused a major global health crisis, primarily targets the upper and lower respiratory tract. But infected individuals may experience different clinical symptoms, ranging from asymptomatic to critical. The vitamin D receptor (VDR) and Toll-like receptor 2 (TLR2) polymorphisms play a role in the immune response. This study aimed to evaluate the effect of VDR Bsml (rs1544410) and TLR2 23bp indel variants on the clinical status of Turkish patients with COVID-19 disease. A total of 312 people, including 106 intensive care unit (ICU) patients, 103 symptomatic hospitalized patients, and 103 healthy controls, were included in the study. The VDR BsmI and TLR2 23bp indel were genotyped using polymerase chain reaction and/or restriction fragment length fraction methods. The VDR BsmI b/b genotype and b allele were higher in symptomatic patients compared to the healthy control group (p = 0.035). The VDR BsmI B/B and B/b genotype distribution did not differ between ICU patients and both symptomatic patients and controls (p > 0.05). We found that B/B:B/b+b/b and B/B+B/b:b/b were significantly different in symptomatic patients compared to controls (p = 0.033 and p = 0.041, respectively). The VDR BsmI b/b genotype distribution was found to be lower in deceased patients than in living patients (p = 0.023). There was no significant difference between the groups in terms of TLR2 23bp indel genotype and allele distribution (p > 0.05). Our study results suggest that the VDR BsmI b allele may have a role in COVID-19 patients with symptomatic findings. These data need to be repeated in different ethnic and larger sample groups.

Secondary Solid Cancers Among Patients with Philadelphia Chromosome-Negative Myeloproliferative Neoplasms: A Multicenter Study.

We investigated the occurrence and characteristics of secondary solid cancers (SSC) in Philadelphia chromosome-negative myeloproliferative neoplasm (Ph- MPN) patients from Türkiye. We identified the potential risk factors for SSC development including the impact of cytoreductive therapies and assess the influence of SSC on patient survival. 1013 Ph- MPN patients diagnosed between 1995 and 2022 was retrospectively analyzed. Data related to demographics, clinical and laboratory parameters, SSC development, cytoreductive therapy exposure and survival outcomes were collected. Statistical analyses were performed using SPSS 26.0 software. Of the Ph- MPN patients, 6.6% developed SSC, with carcinoma being the most common type. Older age at Ph- MPN diagnosis and male gender were associated with SSC occurrence. Ph- MPN patients diagnosed with SSC and patients with no diagnosis of SSC showed no significant difference for complete blood count, spleen size, Ph- MPN diagnostic groups and driver mutation frequencies. However, SSC patients showed a higher frequency of arterial thrombosis and tendency towards increased rate for total thrombosis (p=0.030, p=0.069; respectively). In multivariate analysis, arterial thrombosis was the sole independent risk factor and interferon (IFN)-based therapy the sole protective factor for SSC development. Median overall survival (OS) did not differ between patients with and without SSC except for polycythemia vera (PV) patients with SSC, who had shorter OS (175±15 and 321±26 months, respectively; p = 0.005). Our study highlights the prevalence and characteristics of SSC in Turkish patients diagnosed with Ph- MPN. Arterial thrombosis was associated with increased SSC risk while IFN-based therapy offered potential protection from SSC. Screening for SSC in Ph- MPN patients with arterial thrombosis may be relevant. These findings emphasize the importance of malignancy screening in Ph- MPN patients, especially in high-risk subgroups and call for further research to elucidate the underlying mechanisms and optimize treatment strategies.

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive disorder resulting from axonal midline crossing defect due to variants in ROBO3. We retrospectively evaluated demographics, clinical phenotype, course of spinal deformities, and neuroimaging findings of six Turkish patients with HGPPS. We performed targeted gene testing by next-generation sequencing. The median age at symptom onset and diagnosis was 1.5 years (0.5-4), and 11 years (2-16), respectively. Oculomotor signs were the most common presenting symptom (n = 4), followed by scoliosis (n = 2). The course of scoliosis was progressive and accompanied by kyphosis, showed intrafamilial variability, and was corrected surgically in three of the patients. Intellectual disability (n = 4), hypergonadotropic hypogonadism (n = 2), hearing loss (n = 2), and tranisent movement disorders (n = 1) were additional features. Targeted gene sequencing revealed five distinct homozygous variants. Of the four novel variants, two of them were located in the acceptor site of the noncoding region of the gene, remaining two were missense and frameshift variants, located in immunoglobulin-like domain-2, and cytoplasmic signaling motif 2, respectively. Structural magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) showed the absence of decussation of superior cerebellar peduncle and dorsal transverse pontine fibers. Spectrum of HGPPS is further expanded with novel variants in the ROBO3 with clinical and radiological fingerprints. Spinal deformities require close orthopedic screening and individualized approach. Intellectual disability and hearing loss emerge as additional features. Hypogonadism and transient subtle movement disorders require further attention and confirmation from other series.

Assessing osteoporosis awareness and knowledge levels of Turkish multiple sclerosis patients: an observational study.

To assess the knowledge and awareness of osteoporosis in Turkish multiple sclerosis (MS) patients. Three hundred twenty-five patients were asked to fill out the osteoporosis awareness scale (OAS), which has a scoring range of 31-124, and the revised osteoporosis knowledge test (R-OKT), which has a score range of 0-32. Fall risk assessment for patients was conducted using the timed up-and-go test (high risk: > 30, moderate risk: 29-20, low risk: 14-19, and no risk: < 13 s). An average score of 59.42 ± 19.63(31%) on the OAS and 14.99 ± 5.39 (47%) on the R-OKT was detected. No difference was found in R-OKT scores between genders, education levels, and patients with different fall risks and between genders and education levels in OAS scores. Patients with low, medium, and high fall risks exhibited higher OAS scores compared to those without any fall risk (p = 0.006, p < 0.001, and p < 0.001, respectively). No correlation was found between gender and education level with OAS and R-OKT scores and between the R-OKT scores and the risk of falls. There was a weak correlation between the OAS scores and an increased risk of falls (r = 0.269, p < 0.001). No differences between the age groups regarding OAS and R-OKT scores were observed. Turkish MS patients have inadequate knowledge and low awareness of OP compared to the healthy population. Urgent action is warranted to educate and support individuals with MS, implementing targeted interventions and awareness campaigns to improve early detection and prevent osteoporosis-related complications. ClinicalTrials.gov Identifier: NCT05760651.