Tıp Fakültesi

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7-15 years of age group children' hypertension and obesity
(2013) Battaloğlu İnanç, Betül
Amaç: Mardin ili, ilköğretim okullarındaki öğrencilerde, hipertansiyon ve obezite değerlendirilmesi amaçlandı. Gereç ve Yöntem: Tanımlayıcı tipteki bu çalışma, Mardin ilinin, farklı sosyoekonomik düzeyindeki, üç ilköğretim okulunda, 3460 öğrenciyle yürütüldü. Öğrencilerin, obeziteleri Dünya Sağlık Örgütü’ne (WHO), kan basınçları Amerikan Pediatri Akademisi’nin yayınladığı standartlara göre tanımlandı. Çalışmanın verileri SPSS paket programında, ki-kare testi ile değerlendirildi. İstatistiksel anlamlılık p <0.05 olarak belirlendi. Bulgular: Fazla ağırlığı olan çocuk % 15.78, obez olan çocuk oranı % 10.57’ dir. Obezite sıklığı kız çocuklar için % 9.05 ve erkek çocuklar için % 11.97’ dir ( p<0.01). Öğrencilerin % 1.30’ unda presistolik hipertansiyon, % 2.02’ sinde sistolik hipertansiyon, % 2.65’ inde prediyastolik hipertansiyon ve % 2.74’ ünde diyastolik hipertansiyon görüldü. Ailesinde hipertansiyon olanlar ve onların çocukları arasında hipertansiyon ilişkisi yoktu. İki saatin üzerinde televizyon seyreden çocuklarda, obezite mevcuttu ( p=0.03). Sonuç: Okul sağlığı açısından, hipertansiyon ve obezite değerlendirmeleri gereklidir. Bu nedenle okul çağı çocuklarının muayenelerinde, bu konu mutlaka yer almalı, hipertansiyon ve obezite konusunda öğrencilere ve ailelerine eğitimler verilmelidir.
Aging and cardiac implantable electronic device complications: is the procedure safe in older patients?
(ELSEVIER, 2023) Günlü, Serhat; Aktan, Adem; Kılıç, Raif; Günlü, Serhat; Arslan, Bayram; Arpa, Abdulkadir; Güzel, Hamdullah; Tatlı, İsmail; Aydın, Saadet; Suzan, Veysel; Demir, Muhammed
Background In this study, we investigated whether there is a higher incidence of cardiac implantable electronic devices (CIED) procedures related complications in older (≥75 years) than in younger (<75 years) patients. Methods This retrospective cohort study enrolled patients who had undergone CIED procedures (de novo implantation, system upgrade, generator substitution, pocket revision or lead replacement) at two heart centers in Turkey between January 2011 and May 2023. The primary composite endpoint included clinically signifcant hematoma (CSH), pericardial efusion or tamponade, pneumothorax, and infection related to the device system. Secondary outcomes included each component of the composite end point. Results The overall sample included 1923 patients (1419<75 years and 504 aged≥75 years). There was no diference between the groups in terms of cumulative events defned as primary outcome (3.5% vs. 4.4%, p=0.393). Infection related to device system was signifcantly higher in the≥75 age group (1.8% vs. 3.4%, p=0.034). There was no signifcant diference between the groups in terms of clinically signifcant hematoma and pneumothorax (0.7% vs. 0.4%, p=0.451, 1.4% vs. 1.0%, p=0.477, respectively). In multivariate model analysis, no association was found between age≥75 years and infection related to the device system. Conclusion Infection rates were relatively higher in the patient group aged≥75 years. This patient group should be evaluated more carefully in terms of infection development before and after the procedure.
Aging and cardiac implantable electronic device complications: is the procedure safe in older patients?
(Springer, 2023) Günlü, Serhat; Aktan, Adem; Kılıç, Raif; Günlü, Serhat; Arslan, Bayram; Arpa, Abdulkadir; Güzel, Hamdullah; Tatlı, İsmail; Aydın, Saadet; Suzan, Veysel; Demir, Muhammed
Background: In this study, we investigated whether there is a higher incidence of cardiac implantable electronic devices (CIED) procedures related complications in older (≥ 75 years) than in younger (< 75 years) patients. Methods: This retrospective cohort study enrolled patients who had undergone CIED procedures (de novo implantation, system upgrade, generator substitution, pocket revision or lead replacement) at two heart centers in Turkey between January 2011 and May 2023. The primary composite endpoint included clinically significant hematoma (CSH), pericardial effusion or tamponade, pneumothorax, and infection related to the device system. Secondary outcomes included each component of the composite end point. Results: The overall sample included 1923 patients (1419 < 75 years and 504 aged ≥ 75 years). There was no difference between the groups in terms of cumulative events defined as primary outcome (3.5% vs. 4.4%, p = 0.393). Infection related to device system was significantly higher in the ≥ 75 age group (1.8% vs. 3.4%, p = 0.034). There was no significant difference between the groups in terms of clinically significant hematoma and pneumothorax (0.7% vs. 0.4%, p = 0.451, 1.4% vs. 1.0%, p = 0.477, respectively). In multivariate model analysis, no association was found between age ≥ 75 years and infection related to the device system. Conclusion: Infection rates were relatively higher in the patient group aged ≥ 75 years. This patient group should be evaluated more carefully in terms of infection development before and after the procedure.
Ameliorating effects of low-dose ketamine administrations on opioid-induced memory impairments and neurodegeneration in mice
(İnönü Üniversitesi Tıp Fakültesi, 2023) Şeker, Uğur
Aim: Opioids have indispensable roles in pain management. A strong link exists between opioid use and memory impairments, mainly with continuous use. This study investigated the effects of two opioid drugs, meperidine and fentanyl, on emotional memory functions, brain morphology, and the possible protective effects of low-dose ketamine in mice. Materials and Methods: A passive avoidance (PA) test was used to measure emotional memory functions following seven daily drug applications in 48 male Balb/C mice (30-35 g). Meperidine (10 mg/kg), fentanyl (0.3 mg/kg), ketamine (5 mg/kg), and combinations of ketamine with the opioids were intraperitoneally injected daily. No drugs were utilized during the testing days. Brain tissues were obtained after sacrification and put into diluted formalin solution for histopathological analysis. Results: Transfer latencies of the meperidine and fentanyl-treated groups in the PA test were lower than in the vehicle-treated group (p<0.01, p<0.05, respectively). Ketamine combined with meperidine had higher latencies than in the meperidine-treated group (p<0.05). The augmenting effects of ketamine were evident against fentanyl and meperidine-induced neurotoxicity as morphologic alterations were reduced. Conclusion: Low-dose ketamine may fend against opioid-induced neurotoxicity and emotional memory impairments, especially against meperidine, which can be a practical alternative to fentanyl in clinical settings.
Ameloriate Effect of Glucose Monohydrate on Nicotine Sulfate-induced Toxicity and Teratogenicity in Xenopus embryos: an Experimental Study
(Koszalin University of Technology, 2023) Tunç, Erdal; Emre, Mustafa; Tunç, Erdal; Sertdemir, Yaşar
It is well documented that nicotine causes low birth weight, preterm birth, pregnancy difficulties, lower fertility, inhibition of spermatogenesis, and decreased steroidogenesis and potassium channels conductance of Xenopus oocytes. Lung cancer is the most well-known adverse impact of nicotine. This work used a 96-hour FETAX test to examine how concurrent administration of glucose monohydrate modifies the effects of exposure to nicotine, nicotine sulfate, and/or glucose on ion channels and membrane potential in Xenopus leavis embryos at an early stage of development. In-vitro fertilised embryos were treated with nicotine and glucose alone or in combination for this aim, and the effects of those treatments were then assessed for potential teratogenic effects. At the conclusion of the FETAX technique, the ratios of healthy, abnormal, and dead embryos were calculated, and the length of embryos in each treatment group was assessed. The ratios of abnormal and dead embryos were considerably higher with nicotine treatment alone compared to controls. Compared to the results of the nicotine-alone treatment group, the ratio of aberrant embryos was marginally reduced by concurrent glucose and nicotine therapy. In contrast, the ratio of normal embryos was raised. Additionally, treatments with glucose, nicotine, and Nic+Glu significantly altered the resting membrane potentials of fertilised oocytes (p < 0.001). Our findings indicated that the simultaneous treatment groups that also received glucose had a protective impact on embryos. Such structured, more sophisticated research is required to confirm these findings.
An Examination of the Effects of Propolis and Quercetin in a Rat Model of Streptozotocin-Induced Diabetic Peripheral Neuropathy
(Mdpi, 2024) Şeker, Uğur; Celik, Hakim; Dagli, Seyda Nur; Taskin, Seyhan; Seker, Ugur; Deniz, Mustafa
The purpose of this study was to reveal the combined effects of propolis (P) and quercetin (Q) against diabetic peripheral neuropathy developing with streptozotocin-induced diabetes in rats. Sixty-four adult male rats were divided into eight equal groups: control, P (100 mg/kg/day), Q (100 mg/kg/day), P + Q (100 mg/day for both), diabetes mellitus (DM) (single-dose 60 mg/kg streptozotocin), DM + P, DM + Q, and DM + P + Q. The rats were sacrificed, and blood and sciatic nerve tissues were collected. Blood glucose and malondialdehyde (MDA) levels increased, while IL-6 and total antioxidant status decreased in the DM group (p = 0.016 and p = 0.047, respectively). Ultrastructural findings showed degeneration of the axon and myelin sheath. The apoptotic index (AI %), TNF-alpha, and IL-1 beta immunopositivity increased significantly in the DM group (p < 0.001). Morphological structures approaching those of the controls were observed in the DM + P, DM + Q, and DM + P + Q groups. Morphometric measurements increased markedly in all treatment groups (p < 0.001), while blood glucose and MDA levels, AI (%), TNF-alpha, and IL-1 beta immunopositivity decreased. In conclusion, the combined effects of propolis and quercetin in diabetic neuropathy may provide optimal morphological protection with neuroprotective effects by reducing hyperglycemia, and these may represent a key alternative supplement in regenerative medicine.
Anti-Angiogenic and Oxidant Effects of Monosodium Glutamate at Different Concentrations in Chorioallantoic Membrane Model
(Muğla Sıtkı Koçman Üniversitesi, 2023) Savaş, Hasan Basri
Monosodium glutamate (MSG) is a flavor-enhancing food additive. MSG exposure is rising day by day because of the high commercial food consumption. MSG exposure causes damage to various tissues and organs. The aim of this study is to investigate the effects of MSG on angiogenesis and oxidant-antioxidant balance. Three different concentrations of MSG (10-4 M, 10-5 M, and 10-6 M), control, and the bevacizumab (10-6 M) were prepared and placed on the chorioallantoic membrane (CAM) of the embryos. Albumen was taken from the embryos before and after the experiment. Angiogenesis was investigated through the window that was opened on the eggshell. Angiogenesis was found to be normal in the control and 10-6 M MSG group (average score: 0.3). Anti-angiogenic effects were moderate in the 10-5 M MSG group (average score: 0.5) and in the 10-4 M MSG group (average score: 0.7), and strong in the bevacizumab group (average score: 1.1). According to our results, MSG shows anti-angiogenic properties in higher doses. MSG increased oxidative stress. According to the results of our research, it is seen that MSG inhibits angiogenesis in a dose-dependent manner in the CAM model and may cause an increase in oxidative damage by disrupting the oxidant-antioxidant balance. Since no previous study has been found in the literature regarding the effects of MSG on angiogenesis and oxidant-antioxidant balance in the CAM model, we think our results will fill an important gap in the literature.
Anti-angiogenic and oxidative effects of brilliant blue at different concentrations in chorioallantoic membrane model
(Modestum, 2023) Savaş, Hasan Basri
Introduction: Artificial food colorings are increasingly used to make the color and appearance of foods more attractive. One commonly used food dye is E133, international-coded brilliant blue (BB). According to the European Food Safety Authority panel results in 2010, it was determined that BB daily remained below the acceptable daily intake (ADI) value for adults and exceeded ADI value for children. The purpose of this study was to investigate the effects of BB on angiogenesis and oxidative stress in the chorioallantoic membrane model. Materials & methods: In this investigation, fertilized chick eggs free of specific pathogens were used. The eggs that were not fully grown or fertilized were excluded. 50 embryos were distributed into five groups of 10 each. The negative control group was the control group, the positive control group was the bevacizumab group, and three different BB dosages (10-4 M, 10-5 M, and 10-6 M) were identified. At the end of the experiment, anti-angiogenesis scoring, and total antioxidant-oxidant capacity were evaluated. Results: According to the average score values, the control group had no anti-angiogenic impact, but the bevacizumab group had a strong anti-angiogenic effect (average score 1.1). Furthermore, the 10-4 M BB group had a weak anti-angiogenic impact (average score of 0.7), while the 10-5 M and 10-6 M BB groups had no anti-angiogenic effect (average score of 0.4 and 0.2, respectively). As a result of one-way analysis of variance test, it was seen that BB significantly increased total oxidant capacity and oxidative stress index values in proportion to the increase in dose (p<0.05). Conclusions: BB’s oxidant and anti-angiogenic effects indicate that high doses of processed foods containing artificial food dyes carry a risk for viable growth. Since there are not enough studies in the literature showing the oxidant or antiangiogenic effects of BB in chorioallantoic membrane model, the original data we presented in this study are pioneering.
Anti-angiogenic and oxidative effects of sodium benzoate at different concentrations in chorioallantoic membrane model.
(Modestum, 2023) Savaş, Hasan Basri
Aim: Due to the increased consumption of packaged foods, exposure to food additives is also increasing. Sodium benzoate (SB), a frequently used food additive, is generally used in alcoholic beverages, fruit, and vegetable juices, carbonated soft drinks, canned food, and various sauces. It is used to inhibit the formation of mold, yeast, and bacteria. This study was carried out to investigate the effects of SB exposure on angiogenesis and oxidant-antioxidant balance. Materials & methods: Three different concentrations of SB, bevacizumab, and empty pellets were prepared, placed on chorioallantoic membrane (CAM), and examined for antiangiogenesis. Total antioxidant capacity (TAC) and total oxidant capacity (TOC) measurements were made in the albumen samples, and oxidative stress index (OSI) value was calculated. Results: The control group had no anti-angiogenic effect, but the bevacizumab group had a strong anti-angiogenic effect.10-3 M SB had a weak anti-angiogenic effect, but 10-4 M SB and 10-5 M SB showed no anti-angiogenic effect. TOC levels increased with SB in a dose-dependent manner. TAC levels decreased depending on the dose in the experimental groups with SB application. OSI levels increased depending on the dose increase in SB. Conclusions: SB exposure caused a dose-dependent increase in oxidative stress and antiangiogenic effect in CAM model.
The association of allergic rhinitis severity with neutrophil-lymphocyte and platelet-lymphocyte ratio in children
(Northern Clinics of İstanbul, 2022) Sarı, Neslihan; Sarı, Neslihan
Objective: The aim of the study was to investigate the relationship between the severity of allergic rhinitis (AR) and neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) in pediatric patients. Methods: This study is a retrospective, cross-sectional, and observational study including 200 AR patients and 160 healthy controls. Of the patients, 39% were boys with a mean age of 10.5 years. The study included children with persistent and intermittent AR. Of the controls, 50.6% were boys with a mean age of 10.3 years. We compared NLR and PLR from blood test between study and control groups. They were also compared according to AR severity within the patient group. Results: The NLR was 1.64±1.29 in the study group whereas 1.18±0.31 in the control group. The PLR was 102.72±31.20 in the study group whereas 79.36±11.72 in the control group. When NLR and PLR were compared between groups, we found statistically significant differences in both NLR and PLR (p=0.003, p=0.001, respectively). We found a statistically significant difference when comparing both NLR and PLR in patients with intermittent and persistent AR. These rates increased with disease severity (p=0.000, p=0.000, respectively). Conclusion: Both NLR and PLR are useful markers for the diagnosis and severity of AR. Clinicians can use these markers to assess disease severity in pediatric patients at the beginning of the diagnostic process.
Bacterial Isolation and Antibiotic Susceptibility Test Results from Burn Wound Infection in the Southeastern Anatolia Region of Turkey
(2023) Akelma, Hakan; Demir Yiğit,Yasemin; Yiğit,Ebral
This study was conducted to find the bacterial profile isolated from the wound areas of the patients hospitalized in our burn center, which is the only one in our region and to find the sensitive antibiotics to be used in the treatment. In this study, the culture reports of 395 patients, whose wound culture results were (+), obtained from 1415 patients hospitalized in Gazi Yaşargil Training and Research Hospital burn center between January 2010 and January 2020, were included. Of the 394 patients, 217 (55%) were male and 117 (45%) were female. The average age of the patients is 12,86±17,34 years. The average burn degree is 2,67. In the wound culture results, 70,55% of gram (+) and 28,68% of gram (-) bacteria were found. Candida albicans were found in wound culture growth results with a rate of 0,07%. The most common gram (+) pathogen is Staphylococcus aureus with 23,09% (n: 91). In our study, the resistance rate of Staphylococcus aureus to methicillin was 20,31%. The most common gram (-) pathogen was E. coli with 9,13% (n: 36) and Pseudomonas aeruginosa with 9,13% (n: 36). Gram (+) organisms were mostly isolated with a rate of 78,95% in the culture results of patients who needed intensive care clinically due to infection. Staphylococcus aureus is the most common bacteria with 21,05%. As a result of our study, it was found that the most common cause of burn infection in our region was S. aureus, P. aeruginosa, and E. coli. We hope that the use of broad-spectrum antibiotics that can be effective against these bacteria will contribute to clinical treatment until culture results are available.
Biosensors for the Detection of Pathogenic Bacteria: Current Status and Future Perspectives
(Taylor and Francis Ltd., 2024) Dicle, Yalçın; Karamese, M.
Pathogenic microorganisms pose significant threats to human health, food safety and environmental integrity. Rapid and accurate detection of these pathogens is essential to mitigate their impact. Fast, sensitive detection methods such as biosensors also play a critical role in preventing outbreaks and controlling their spread. In recent years, biosensors have emerged as a revolutionary technology for pathogen detection. This review aims to present the current developments in biosensor technology, investigate the methods by which these developments are used in the detection of pathogenic bacteria and highlight future perspectives on the subject. © 2024 Expert Publishing Medicine Ltd trading as Taylor & Francis.
Bir Flavonoid Olan Gossypin'in, Standard Bakteri ve Maya Suşları Üzerindeki Antibakteriyel, Antifungal, Antibiyofilm, Antiadherent ve Antiinvazif Aktivitelerinin İn vitro Olarak Araştırılması
(Dicle Üniversitesi Tıp Fakültesi, 2023) Dicle, Yalçın; Çınar, İrfan; Özgür, Didem; Dicle, Yalçın; Yalçın
Amaç: Planlanan çalışmamızda Hibiscus vitofolius isimli bitkinin majör komponentlerinden biri olan gossypin isimli etken maddenin mikroorganizmalar ve onların virülans özellikleri (biyofilm oluşturma, adezyon ve invazyon yeteneği gibi) üzerine olan etkilerinin araştırılması amaçlanmıştır. Yöntemler: Çalışmamızda, gossypin isimli maddenin 5 farklı türdeki mikroorganizmalar (2 gram pozitif bakteri, 2 gram negatif bakteri ve 1 maya) üzerine olan antibakteriyel ve antifungal etkinlikleri bir mikrodilüsyon yöntemi olan Sıvı Mikrodilüsyon Yöntemi (SMD) ile tespit edilmiştir. Ardından, biyofilm oluşumu; kristal viyole ve MTT testleri uygulanmıştır. Gossypin’in antibiyofilm aktivitesi mikroplaka yöntemi ile tespit edilip, MTT deneyleri ile doğrulanmıştır. Son olarak ise, gossypin’in antiinvazif etkinliğini ölçmek amacıyla Adherent-Invasive Escherichia coli bakterisi ile Caco-2 insan kolon hücreleri enfekte edilerek, AEIC suşunun invazyonu indüklenmiş ve etken maddenin invazyon üzerine olan inhibe edici etkisi araştırılmıştır. Sonuç: Elde edilen sonuçlara göre, gossypin’in doza bağlı olarak antibakteriyel, antifungal ve antibiyofilm etkinliği olduğu saptanmıştır (MİK değerleri 40-80 μg/ml arasındadır). Buna ilave olarak, gossypin dozuna bağlı olarak bakterilerin Caco-2 hücrelerine olan adezyon ve invazyon süreçleri üzerine etkili olduğu saptanmıştır. 160 μg/ml gossypin uygulaması bakteri adezyonunu %67 oranına kadar ve bakteri invazyonunu %38 oranına kadar düşürmektedir. Yapılan in-vitro çalışmalar sonucunda gossypin’in IC50 dozunun 28,20 μg/ml olduğu tespit edilmiştir. Tartışma: Elde edilen veriler, gossypin'in birden fazla antimikrobiyal aktiviteye sahip olduğunu ve bu etkilerin mekanizmalarının saptanması için gelecekte detaylı moleküler çalışmaların yapılması gerektiğini gösterdi.
Bronchiectasis in Türkiye: Data from a Multicenter Registry (Turkish Adult Bronchiectasis Database)
(Galenos Publ House, 2024) Kabak, Mehmet; Cilli, Aykut; Kızılırmak, Deniz; Coşkun, Ayşın Şakar; Güler, Nurcan; Çiçek, Sedat; Researchers, Tebveb
Background: Bronchiectasis is a chronic lung disease characterized by permanent bronchial wall dilatation. Although it has been known as an orphan disease, it has recently gained attention because of registry-based studies and drug research. Aims: We aimed to use a multicenter database to analyze and compare data regarding the etiology, associated comorbidities, microbiological characteristics, and preventive strategies of bronchiectasis in Türkiye to those of other countries. Study Design: A multicenter prospective cohort study. Methods: The multicenter, prospective cohort study was conducted between March 2019 and January 2022 using the Turkish Adult Bronchiectasis Database, in which 25 centers in Türkiye participated. Patients aged > 18 years who presented with respiratory symptoms such as cough, sputum, and dyspnea and were diagnosed with non-cystic fibrosis bronchiectasis using computed tomography were included in the study. Demographic information, etiologies, comorbidities, pulmonary functions, and microbiological, radiological, and clinical data were collected from the patients. Results: Of the 1,035 study participants, 518 (50%) were females. The mean age of the patients was 56.1 ± 16.1 years. The underlying etiology was detected in 565 (54.6%) patients. While postinfectious origin was the most common cause of bronchiectasis (39.5%), tuberculosis was identified in 11.3% of the patients. An additional comorbidity was detected in 688 (66.5%) patients. The most common comorbidity was cardiovascular disease, and chronic obstructive pulmonary disease (COPD) and bronchiectasis was identified in 19.5% of the patients. The most commonly detected microbiological agent was Pseudomonas aeruginosa (29.4%). Inhaled corticosteroids (ICS) were used in 70.1% of the patients, and the frequency of exacerbations in the last year was significantly higher in patients using ICS than in nonusers (p < 0.0001). Age [odds ratio (OR): 1.028; 95% confidence interval (CI): 1.005-1.051], cachexia (OR: 4.774; 95% CI: 2,054-11,097), high modified medical research council dyspnea scale score (OR: 1,952; 95% CI: 1,459-2,611), presence of chronic renal failure (OR: 4,172; 95% CI: 1,249-13,938) and use of inhaled steroids (OR: 2,587; 95% CI: 1,098-6,098) were significant risk factors for mortality. Mortality rates were higher in patients with COPD than in those with no COPD (21.7-9.1%, p = 0.016). Patients with bronchiectasis and COPD exhibited more frequent exacerbations, exacerbation-related hospitalizations, and hospitalization in the intensive care unit in the previous year than patients without COPD. Conclusion: This is the first multicenter study of bronchiectasis in Türkiye. The study results will provide important data that can guide the development of health policies in Türkiye on issues such as infection control, vaccination, and the unnecessary use of antibiotics and steroids.
Can Serum Biomarker Values from Second-Trimester Aneuploidy Screening Predict the development of Retinopathy of Prematurity in Premature Infants?
(Kare Publishing, 2024) Savaş, Hasan Basri; Küçük, Mehmet Fatih; Savaş, Hasan Basri; Süren, Elçin; Erol, Muhammet Kazım; Yavuz, And; Sipahioğlu, Haydar
Objectives: This study aimed to evaluate serum biomarker values measured during second-trimester aneuploidy screening in terms of their predictive ability for the development of retinopathy of prematurity (ROP) in premature infants. Methods: This retrospective cohort study evaluated the data of 1985 idiopathic premature infants who underwent ROP screening from 2016 to 2022. The infants were divided into two groups according to the presence of ROP, and those with ROP were further evaluated in two subgroups based on the presence of proliferation. Comparisons were made concerning the serum multiple of the median values of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and alpha-fetoprotein (AFP) among aneuploidy screening biomarkers. Results: While 1628 premature infants were in the non-ROP group, 357 were in the ROP group. Of the infants with ROP, 72 were in the proliferative ROP group and 285 in the non-proliferative ROP group. There was no significant difference in the multiple of the median values of the evaluated serum biomarkers (uE3, hCG, and AFP) between the ROP and non-ROP groups or between the proliferative ROP, non-proliferative ROP, and non-ROP groups. Conclusion: The multiple of the median values of second-trimester aneuploidy screening serum biomarkers were not able to predict the development of ROP in premature infants. This result may have been caused by the fact that the blood tests were taken only once and in the same weeks.
Case report: physical therapy and rehabilitation process of a patient diagnosed with achondroplasia
(Journal of Medical Topics and Updates, 2023) Canbay Durmaz, Sevda; Güven, Ümran; Canbay, Ali; Özbağ, Davut; solgun Dağ, Selma
Achondroplasia is an autosomal dominant disorder. But 80% of cases are sporadic. Its incidence is between 1/25000 and 1.5/10000. Significant shortening of the femur and humerus occurs in patients with achondroplasia. This shortness causes the appearance of rhizomelic type of dwarfism. Since the skull of patients with achondroplasia is large during delivery, it may cause difficult delivery. During infancy, hypotonia is more dominant. Many patients also have delayed motor development. Our aim in the study is to present the successful physical therapy and rehabilitation process of our patient diagnosed with achondroplasia for one year and her condition from diagnosis to treatment. Our patient was born via cesarean section on 12.02.2020. The weight of the baby girl was 3500 grams. The mother's height was 162 cm. and the father's height was 174 cm. The mother was 23 years old and the father 27 years old. The same diagnosis was not present in any living relative of the patient. The patient was 1 year old when she applied to our center. She had completed head control and had not yet acquired the skills of rolling over, crawling, and sitting without support. Gross motor skills such as assisted standing and stepping were not developed. In this direction, after a 1-year physical therapy and rehabilitation period applied in 2 sessions a week, the patient gained the ability to walk independently.
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
(IOS press, 2023) Özgün, Nezir
Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.
Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene
(Karger, 2023) Özbek, Mehmet Nuri; Demirbilek, Hüseyin; Özbek, Mehmet Nuri; Kurt, İlknur; Karaoğlan, Murat; Albayrak, Serpil; Dündar, Bumin Nuri; Güran, Tülay
Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC deficiency due to CYP11A1 gene mutation have been reported so far. The most common mutation is the c.1351C>T (p.R451W) mutation, which has been detected in 12 cases. We, herein, present the clinical characteristics of 14 cases presented with adrenal insufficiency due to p.R451W mutation in the CYP 11A1 gene. Design and method: Data were retrospectively collected from tertiary pediatric endocrine centers using a standardized proforma. Family history, presenting age, clinical, biochemical, and hormonal characteristics, treatment options, and the follow-up characteristics obtained during their latest follow-up visits were recorded. Results: 14 patients (M/F:7/7) from 10 consanguineous Turkish families were recruited. The mean age of the diagnosis was 3.8±2.4(Range: 1.04-8.5 years). All of the male subjects were completely virilized with no sign of DSD. The main presenting complaints were signs and symptoms of primary adrenal insufficiency. However, despite having signs and symptoms 3 subjects were diagnosed when investigated due to the history of their affected siblings. While glucocorticoid deficiency (elevated ACTH, low cortisol) was present in all cases, none of the male cases had undervirilization excluding androgen deficiency. Mild mineralocorticoid (MC) deficiency was detected in 10/14 of the cases which were recovered in 2 subjects during follow-up. More strikingly, one patient with no MC deficiency at presentation had developed a salt-wasting adrenal crisis during acute illness. Although a deterioration was detected in height SDS, there was not a statistically significant difference between height SDS at presentation (-0.64±1.4), at the latest follow-up visit(-0.90±1.4), and target height SDS (-0.63±0.6). Conclusion: In the present largest case series with a p.R451W mutation in the CYP11A1 gene our results confirmed a milder phenotype for all steroid hormones. Particularly lack of virilization defect in male subjects, and lack of salt-wasting crisis until a relatively late age of diagnosis suggested mild MC and androgen deficiency. Nevertheless, lack of MC deficiency at presentation does not exclude the risk of developing a salt-wasting adrenal crisis. Therefore special caution requires for patients with no MC replacement, particularly during acute illnesses.
Clinical features of generalized lipodystrophy in Turkey: a cohort analysis
(Wiley Online Library, 2023) Özbek, Mehmet Nuri; Yildirim Simsir, Ilgin; Tuysuz, Beyhan; Tanrikulu, Seher; Celik Guler, Merve; Akinci, Baris
Aim: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. Methods: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. Results: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. Conclusions: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.
Clınıcal Sıgnıfıcance of HDL-C Values And Routıne Parameters Of Inflammatıon Such As Hs-Crp, Lenfocyte And Neutrofıl Ratıos In Covıd-19 Patıents
(İZMİR ATATÜRK EĞİTİM HASTANESİ TIP DERGİSİ, 2023) Gökdemir, Gül Şahika; Nas, Cemal
Objective: The study aimed to evaluate the prognostic significance of high-density lipoprotein cholesterol (HDL-C) levels, alongside markers including the neutrophil/HDL-C ratio (NHR) and lymphocyte/HDL-C ratio (LHR), on the mortality of COVID-19 patients. It also examined the potential clinical application of these biomarkers in the management of future healthcare crises, despite the end of the COVID-19 pandemic. Materials and Methods: Patients diagnosed with COVID-19 were retrospectively analysed between March 2020 and August 2022. A total of 367 patients were categorised into two groups: survivors (group 2) and non-survivors (group 1). Patient demographics, biochemical and haematological parameters obtained from blood samples, high-sensitivity C-reactive protein (hs-CRP), neutrophil-to-lymphocyte ratio (NLR), monocyte/HDL-C ratio (MHR), NHR, LHR, platelet/HDL-C ratio (PHR) were calculated. Patient data were analysed using SPSS 26 and statistical differences of P<0.05 were considered significant. Results: Among the patients analyzed in the study, the living group constituted 89.9% of individuals, while the deceased group represented 10.1%. The neutrophil levels were significantly higher in the deceased group, and NLR and NHR values were statistically significant (P<0.001 and P=0.001, respectively). There was no significant difference in HDL-C levels. Moreover, no significant differences in LHR, MHR, and PHR levels were observed between groups. The hs-CRP levels were significantly higher in the deceased (P<0.001). Correlation analysis indicated a negative correlation between HDL-C and LHR and NHR, and significant correlations were found for other markers. ROC analysis showed that LHR and NHR were significant in discriminating deceased patients. Conclusion: Biochemical and haematological parameters, especially markers such as NLR and NHR, can potentially be used to assess the risk of death in COVID-19 patients. These markers may be valuable in predicting the prognosis of patients and could be used in future similar health crises.

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