Turkish Journal of Medical Sciences最新文献

{"title":"Erratum to \" Telemedicine in pediatric rheumatology: the video pediatric gait, arms, legs, and spine (v-pGALS) examination\" [Turkish Journal of Medical Sciences 54 (5) 2024 963-969 ].","authors":"Zeynep Balik, Seher Şener, Yağmur Bayindir, Müşerref Kasap Cüceoğlu, Emil Aliyev, Özge Başaran, Yelda Bilginer, Seza Özen, Ezgi Deniz Batu","doi":"10.55730/1300-0144.5976","DOIUrl":"https://doi.org/10.55730/1300-0144.5976","url":null,"abstract":"<p><p>[This corrects the article on p. 963 in vol. 54, PMID: 39473760.].</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"348"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of the home environment in children with developmental delays: insights from a cross-sectional study in Türkiye.","authors":"Emel Ömercioğlu, Ebru Cihan Çam, Ömer Nazım Gülçek, Elif N Özmert","doi":"10.55730/1300-0144.5956","DOIUrl":"10.55730/1300-0144.5956","url":null,"abstract":"<p><strong>Background/aim: </strong>A stimulating home environment in early childhood plays a crucial role in fostering child development. This study aimed to evaluate the home environment of children with developmental delays and who had not received special education support in any developmental domain.</p><p><strong>Materials and methods: </strong>The study comprised of 50 preschool children with developmental delay monitored at Hacettepe University Division of Developmental Pediatrics and 70 typically developing preschool children from Ankara 29 Mayıs State Hospital, General Pediatrics Department. Physicians and experienced child development professionals employed the Ages and Stages Questionnaire (ASQ) to perform developmental assessments on each child. The characteristics of the home environment for all participants were evaluated using the Home Environment Questionnaire (HEQ), and their sociodemographic details were recorded.</p><p><strong>Results: </strong>The home stimulation scores for children with developmental delay were significantly lower compared to those for their typically developing peers (p < 0.001). Physical violence against children was reported by 34% of parents of children with developmental delays (p < 0.001). The presence of developmental delay (p < 0.001, CI 12.629-7.927), the family socioeconomic status (p = 0.002, CI 3.813-1.486), and the number of family members (p = 0.001, Cl 2.595-0.708) were significantly associated with home stimulation scores.</p><p><strong>Conclusion: </strong>Initial assessment of children with developmental delays suggest that the stimuli in their home environment are of lower quality relative to those of typically developing peers, and these children are subjected to markedly higher levels of physical violence. These results underscore the need for early childhood caretakers, public health practitioners, and other professionals to design and implement targeted interventions, particularly prioritizing low-income families living in disadvantaged environments.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"184-192"},"PeriodicalIF":1.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comparison study of sensory processing in older adults with and without dementia.","authors":"Medine Nur Özata Değerli, Didem Karaduman, Burcu Balam Doğu, Onur Altuntaş","doi":"10.55730/1300-0144.5948","DOIUrl":"10.55730/1300-0144.5948","url":null,"abstract":"<p><strong>Background/aim: </strong>Sensory processing is affected by aging, and dementia may lead to changes in sensory processing. This study aimed to examine the differences in sensory processing and sensory modulation between older adults with and without dementia.</p><p><strong>Materials and methods: </strong>This study was designed as a comparative study of community-dwelling older adults aged 65 years and older with and without dementia. Participants and their caregivers were recruited at the occupational therapy clinic of a public hospital. They completed a sociodemographic information form and the Adolescent/Adult Sensory Profile to assess sensory processing and sensory modulation.</p><p><strong>Results: </strong>The study included 120 older adults (60 with dementia and 60 without dementia) aged 75.35 ± 7.86 years. Older adults with dementia showed an above-norm low registration (<i>x</i> ² = 27.62) and sensory sensitive (<i>x</i> ² = 14.96) compared to without dementia. However, no significant differences were observed between the groups in sensation seeking and sensation avoiding (p > 0.05). There was a difference between the two groups in taste/smell, movement, visual, touch, and auditory modulation (p < 0.05).</p><p><strong>Conclusion: </strong>These findings highlight significant differences in sensory processing and modulation associated with dementia. Understanding these differences may offer valuable insights for developing individualized approaches to dementia management.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"103-111"},"PeriodicalIF":1.2,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing knowledge levels of intensive care unit nurses and doctors regarding drug administration via enteral feeding tubes: a survey study.","authors":"Ayşe Gül Koçoğlu Kinal, Yunus Emre Ayhan, Aslınur Albayrak","doi":"10.55730/1300-0144.5957","DOIUrl":"10.55730/1300-0144.5957","url":null,"abstract":"<p><strong>Background/aim: </strong>Knowledge deficiency regarding appropriate drug administration through enteral feeding tubes (EFTs) is common in intensive care units (ICUs). The aim of this study is to evaluate the knowledge levels of nurses and doctors in ICUs about drug administration via EFTs.</p><p><strong>Materials and methods: </strong>This study was conducted as a cross-sectional online survey. Survey questions were created using Google Forms and distributed to nurses and doctors in various ICUs across hospitals in İstanbul, Türkiye. The researchers designed the survey questions based on literature reviews and existing examples. The survey consisted of three sections and a total of 25 questions: the first section included seven demographic questions, while the second and third sections focused on participants' knowledge regarding drug administration via EFT and the selection of appropriate dosage forms, respectively.</p><p><strong>Results: </strong>The online survey form was sent to 400 healthcare workers in ICUs, and 221 (55.2%) completed the survey. Among the participants, 66 (29.9%) were male, and 112 (50.6%) were doctors. There was no significant difference in the mean (± SD) of correct answers to 9 questions on drug administration between doctors (5.4 ± 1.3) and nurses (5.3 ± 1.4) (p = 0.471). In the mean (± SD) of correct answers to 9 questions on dosage form selection, doctors (3.9 ± 2.1) had higher scores than nurses (2.7 ± 1.9) (p < 0.001). The mean (± SD) of the responses given to all questions was found to be higher in doctors (9.4 ± 2.9) than in nurses (8 ± 2.7) (p < 0.001).</p><p><strong>Conclusion: </strong>In ICUs, the knowledge of nurses and doctors about drug administration and dosage form selection via EFT is at a low to moderate level. Enhancing collaboration among healthcare professionals may be effective in bridging this knowledge gap.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"193-202"},"PeriodicalIF":1.2,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In vitro anticancer, antioxidant and chelating activities of natural organosulfur compounds originated from Türkiye: an investigation on breast and colorectal cancer cells.","authors":"Ümmügülsüm Polat Korkunç, Hilal Çalik, Leyla Polat Köse, Rabia Çakir Koç, Emine Karakuş","doi":"10.55730/1300-0144.5970","DOIUrl":"10.55730/1300-0144.5970","url":null,"abstract":"<p><strong>Background/aim: </strong>Taşköprü garlic, cultivated in the Taşköprü region of Kastamonu Province, is highly renowned in Türkiye. This study aimed to determine the anticancer and antioxidant effects of extracts from Kastamonu Taşköprü garlic on human breast cancer and colorectal cancer cells.</p><p><strong>Materials and methods: </strong>Taşköprü garlic, which contains natural organosulfur compounds (OSCs), has a geographical registration. Garlic contains oil- and water-soluble OSCs known to exhibit anticancer activity by interfering with MCF-7 and Caco-2 proliferation and tumor metastasis. This study assessed the antiproliferative activity of oil- and water-soluble garlic extracts with and without glutathione at different concentrations using the XTT assay on NIH/3T3, MCF-7, and Caco-2 cell lines over 24 h. In addition, the reducing capacity, radical scavenging activity, and metal chelation activity of OSCs in Taşköprü garlic were analyzed.</p><p><strong>Results: </strong>Both oil- and water-soluble garlic extracts significantly inhibited the proliferation of MCF-7 and Caco-2 in a dose-dependent manner after 24 h of incubation. The half-maximal inhibition concentration (IC₅₀) values of OSCs and positive controls for N,N-dimethyl-p-phenylenediamine cation (DMPD^.+) radical removal and 2,2'-bipyridyl-Fe²⁺ chelation activity were 129.593-1004.346 and 165.065-495.195 μg/mL, respectively. Furthermore, the reducing impact of OSCs and positive controls were evaluated based on their cupric ion (Cu²⁺) reducing capabilities. All results were compared with the respective positive controls.</p><p><strong>Conclusion: </strong>The findings revealed that oil-soluble garlic extracts exhibited anticancer properties against both Caco-2 and MCF-7 cancer cells, without inducing any cytotoxicity in non-cancerous NIH/3T3. In addition, water-soluble extracts have higher antiproliferative activity on Caco-2 and MCF-7 cells in a dose-dependent manner compared to oil-soluble extracts. However, they also exhibited notable cytotoxicity on fibroblast cells. OSCs showed limited activity in reduction and radical scavenging assays but demonstrated strong chelating activity. These results suggest that both water-soluble and oil-soluble garlic extracts hold promising anticancer potential against both MCF-7 and Caco-2.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"287-298"},"PeriodicalIF":1.2,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficiency of cervical cerclage and pessary in addition to vaginal progesterone to prevent preterm birth in twin pregnancies: a case-control study from a tertiary center.","authors":"Göksun Ipek, Atakan Tanaçan, Ilım Demet, Zahid Ağaoğlu, Ezgi Başaran, Özgür Kara, Dilek Şahin","doi":"10.55730/1300-0144.5968","DOIUrl":"10.55730/1300-0144.5968","url":null,"abstract":"<p><strong>Background/aim: </strong>This study evaluated the efficiency of cervical cerclage and pessary in addition to vaginal progesterone to prevent preterm birth in twin pregnancies.</p><p><strong>Materials and methods: </strong>This retrospective case-control study included 46 cases of twin pregnancy with cervical insufficiency delivered at Ankara Bilkent City Hospital between January 2022 and January 2024. Patients were grouped as those receiving cervical cerclage in addition to vaginal progesterone (n = 10), cervical pessary in addition to vaginal progesterone (n = 11), and only vaginal progesterone (n = 25). Patients' data were obtained from the hospital's database. Obstetric parameters (gravidity, parity, abortion, artificial reproductive technologies, second-trimester abortion) and ultrasound parameters (cervical length, intraamniotic sludge) were recorded. Gestational week at birth, latency period (diagnosis to delivery), and delivery after 34 weeks were evaluated for effectiveness. All parameters were compared between groups and evaluated for effectiveness as an independent factor for preterm birth.</p><p><strong>Results: </strong>The primary effectiveness parameters of latency period, birth week, and delivery after 34 weeks did not differ statistically between groups. When the parameters were evaluated independently of treatment groups for their effects on delivery after 34 weeks with multivariate regression analysis, the presence of intraamniotic sludge was found to be a negative independent factor for delivery after 34 weeks (p = 0.03).</p><p><strong>Conclusion: </strong>Cervical cerclage or pessary in addition to vaginal progesterone had no additional benefit for achieving birth after 34 gestational weeks. The only factor that had a negative effect on birth after 34 gestational weeks was the presence of intraamniotic sludge. Our clinical experience with twin pregnancies may provide insight into treatment options for clinicians.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"271-276"},"PeriodicalIF":1.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913503/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The abdominal compliance index and postoperative pain after laparoscopic gynecologic surgery: a preliminary observational cohort study.","authors":"Ebru Akgün Şarer, Mustafa Tahtaci, Umut Cahit Ersoy, Mehtap Honca","doi":"10.55730/1300-0144.5969","DOIUrl":"10.55730/1300-0144.5969","url":null,"abstract":"<p><strong>Background/aim: </strong>In gynecology, laparoscopic surgery has the advantages of reduced scarring, less postoperative pain, faster recovery, and lower risk of complications. Despite these advantages, shoulder pain still remains a major concern, affecting up to 90% of patients undergoing gynecologic laparoscopic surgery. Use of the abdominal compliance index (ACI) may offer the benefit of increased space for safer surgery and may prevent the drawback of high insufflation pressures. The aim of this study was to investigate the relationship between shoulder pain, abdominal pain, and analgesic use with the recently advised ACI, a surrogate index of abdominal expansion in patients undergoing gynecologic laparoscopic surgery.</p><p><strong>Materials and methods: </strong>Thirty-one patients with American Society of Anesthesiologists scores of 1-3 who underwent elective gynecologic laparoscopic surgery were included. The insufflation pressure was set to 12 mmHg. ACI, defined as insufflated intraabdominal volume (L) per body surface area (m²), was used to estimate the relationship between abdominal compliance and postoperative pain.</p><p><strong>Results: </strong>The 31 patients were separated into two groups based on median ACI level (range 1.37-2.73 L/m²), with those having values of 2.16 L/m² or lower as group 1 and those with higher values as group 2. Abdominal visual analogue scale (VAS) scores at 30 min postoperative were significantly higher in group 2 than in group 1 (p < 0.001). Shoulder pain VAS scores at 24 h and 36 h postoperative were also significantly higher in group 2 than in group 1 (p = 0.021 and p = 0.002, respectively). The total amount of analgesic infusion and additional analgesic requirements were lower in group 1 than in group 2 (p = 0.049 and p = 0.001, respectively). ACI did not differ with patient demographic characteristics or history of abdominal/laparoscopic surgery, parity, abdominal drainage, and pneumoperitoneum time.</p><p><strong>Conclusion: </strong>ACI, a surrogate index of abdominal expansion capacity, may be used to guide individualization of insufflation pressures by identifying female patients under risk of higher postoperative pain.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"277-286"},"PeriodicalIF":1.2,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11931810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paradigm shift in obesity treatment: an extensive review of current pipeline agents.","authors":"Ecesu Çetin, Brian Pedersen, Mehmet Furkan Burak","doi":"10.55730/1300-0144.5938","DOIUrl":"10.55730/1300-0144.5938","url":null,"abstract":"<p><p>Obesity is a multifaceted disease that poses a significant public health challenge. Recent discoveries in understanding the biological pathways that regulate satiety and metabolism have led to a shift in the treatment paradigm for obesity. Thus, the gap between pharmacological and surgical interventions has diminished. The latest approved antiobesity medications help to achieve weight loss comparable to surgery. These GLP-1 analog-based therapies not only cause substantial weight loss but also improve obesity-associated comorbidities. However, there are still unmet needs in obesity care, and treatment options with alternative pathways are necessary. Whether achieved through lifestyle changes or medication, weight loss often leads to muscle mass loss and reduced energy expenditure, resulting in rebound weight gain. Moreover, addressing severe obesity and comorbidities, such as metabolic-associated fatty liver disease (MAFLD), metabolic dysfunction-associated steatohepatitis (MASH), heart failure with preserved ejection fraction, and obstructive sleep apnea, necessitates the development of additional therapeutic strategies. Various antiobesity medications with novel mechanisms of action are currently in the pipeline. Myostatin-activin pathway inhibitors are under development to preserve muscle mass, and combination therapies with glucagon agonists address MAFLD and MASH. Amylin agonists offer a promising alternative to those unable to tolerate GLP-1 analogs. Mitochondrial uncouplers are under investigation for enhancing energy expenditure, NLRP-3 inhibitors for reducing inflammation, and GWAS targets for additional weight loss benefits. Combination therapies, such as dual or triple hormonal receptor agonists, are being developed to maximize weight loss and optimize tolerability. These emerging medications in the clinical trial pipeline show promise for more tolerable and sustainable obesity management.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"1-16"},"PeriodicalIF":1.2,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between bleeding risk and arterial stiffness in patients with cerebral aneurysms.","authors":"Mehmet Selim Gel, Hasan Çağrı Postuk, İskender Samet Daltaban, Savaş Özer, Ercan Aydin, Emrah Keskin","doi":"10.55730/1300-0144.5959","DOIUrl":"10.55730/1300-0144.5959","url":null,"abstract":"<p><strong>Background/aim: </strong>A comprehensive risk factor assessment evaluating the susceptibility of cerebral aneurysms (CAs) to rupture has not yet been established. Therefore, the clinical management of unruptured CAs remains uncertain. This study aimed to assess whether arterial stiffness was associated with rupture risk in patients with CAs.</p><p><strong>Materials and methods: </strong>Following magnetic resonance angiography, 49 patients with CAs and subarachnoid haemorrhage and ruptured CAs (confirmed via digital subtraction angiography) were included in the study. Arterial stiffness was measured using the VaSera VS-1000 vascular scanning system and expressed as cardio-ankle vascular index (CAVI) values. The CAVI values were compared between the patient groups.</p><p><strong>Results: </strong>The mean age of the cerebrovascular aneurysm group was 51 ± 11 years, while that of the cerebrovascular aneurysmal haemorrhage group was 58 ± 12 (p = 0.308) years. Left and right CAVI values were significantly higher in the cerebrovascular aneurysm group (p < 0.05 for both). The CAVI values were positively correlated with haemorrhagic CA (p < 0.05).</p><p><strong>Conclusion: </strong>This study revealed that increased arterial stiffness was associated with an increased risk of haemorrhage in patients with CAs. This result demonstrates the importance of evaluating arterial stiffness as an informative parameter for treatment and follow-up decisions in patients with CAs.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"209-214"},"PeriodicalIF":1.2,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11931809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of certain biochemical parameters related to bone cycle with genotype in MPS IIIB patients.","authors":"Seda Gökkurt, İrem Peker Eyüboğlu, Banu Nur Güzel, Ercan Mihçi, Ayşe Özer, Mustafa Akkiprik","doi":"10.55730/1300-0144.5973","DOIUrl":"10.55730/1300-0144.5973","url":null,"abstract":"<p><strong>Background/aim: </strong>The aims of this study are to investigate the genotype-phenotype correlation in Sanfilippo type B (MPS IIIB) patients in terms of bone formation/resorption parameters and to determine the release/inhibition of biomarkers accompanying osteoporosis.</p><p><strong>Materials and methods: </strong>Plasma levels of osteoprotegerin (OPG), matrix metalloproteinases (MMP2 and MMP9), tissue inhibitors of metalloproteinase (TIMP1 and TIMP2) and cathepsin K were examined using the ELISA method for a MPS IIIB patient group and a control group. At the same time, mutations in the NAGLU gene causing the disease were identified by whole exome sequencing, and their correlation with biochemical parameters was investigated.</p><p><strong>Results: </strong>The enzyme analysis results showed that MMP2, MMP9, TIMP1, and TIMP2 were significantly high in the study group, while cathepsin K was low. OPG levels were similar between the two groups. The genetic analysis of patients with MPS IIIB was performed by sequencing all exons and exon-intron junction regions of the NAGLU gene using a next-generation sequencing (NGS) system. In this way, variations were detected qualitatively with high read depths. The analyses found that only two patients had a previously pathogenically defined alteration. In addition, the impact assessment analyses detected alterations with a modifying effect on protein structure.</p><p><strong>Conclusion: </strong>The genetic analysis results indicate the need to consider a variation classified as benign in the OMIM database as pathogenic because the variations found in the patients (p.Arg737Gly and p.Trp103Cys) have somehow altered enzyme activity. The mutation p.Trp103Cys, a novel NAGLU gene mutation in the first exon, was detected in one patient; additionally, SIFT and PolyPhen analyses confirmed it as damaging. Further functional analyses of this variation should be conducted to gather more comprehensive information.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"55 1","pages":"328-336"},"PeriodicalIF":1.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11913520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}