Comparison of artificial intelligence vs. junior dentists’ diagnostic performance based on caries and periapical infection detection on panoramic images

Background: There is information missing in the literature about the comparison of dentists vs. artificial intelligence (AI) based on diagnostic capability. The aim of this study is to evaluate the diagnostic performance based on radiological diagnoses regarding caries and periapical infection detection by comparing AI software with junior dentists who have 1 or 2 years of experience, based on the valid determinations by specialist dentists. Methods: In the initial stage of the study, 2 specialist dentists evaluated the presence of caries and periapical lesions on 500 digital panoramic radiographs, and the detection time was recorded in seconds. In the second stage, 3 junior dentists and an AI software performed diagnoses on the same panoramic radiographs, and the diagnostic results and durations were recorded in seconds. Results: The AI and the three junior dentists, respectively, detected dental caries at a sensitivity (SEN) of 0.907, 0.889, 0.491, 0.907; a specificity (SPEC) of 0.760, 0.740, 0.454, 0.696; a positive predictive value (PPV) of 0.693, 0.470, 0.155, 0.666; a negative predictive value (NPV) of 0.505, 0.415, 0.275, 0.367 and a F1-score of 0.786, 0.615, 0.236, 0.768. The AI and the three junior dentists respectively detected periapical lesions at an SEN of 0.973, 0.962, 0.758, 0.958; a SPEC of 0.629, 0.421, 0.404, 0.621; a PPV of 0.861, 0.651, 0.312, 0.648; a NPV of 0.689, 0.673, 0.278, 0.546 and an F1-score of 0.914, 0.777, 0.442, 0.773. The AI software gave more accurate results, especially in detecting periapical lesions. On the other hand, in caries detection, the underdiagnosis rate was high for both AI and junior dentists. Conclusions: Regarding the evaluation time needed, AI performed faster, on average.Medipol Universit

Bannayan-Riley-Ruvalcaba Syndrome in a Case Evaluated Due to Multinodular Goiter

Bannayan-Rıley-Ruvalcaba syndrome (BRRS) is characterized by macrocephaly, pigmented macules on the glans penis and benign mesodermal hamartomas. 9.6-year-old boy was referred to the pediatric surgeon following an observation of a subcutaneous lipomatous lesion and numerous nodules in the thyroid gland via ultrasonography performed due to swelling in the neck first noticed approximately 3 months previously. Thyroid ultrasonography revealed numerous nodules with distinct margins in both lobes of the thyroid gland, some exhibiting calcification and others hypoechoic areas, and a total thyroidectomy was performed due to a suspicion of malignity. After surgery, the patient was referred to the Pediatric Endocrinology Department. On physical examination, his weight was 30 kg [standard deviation score (SDS): -0.38], height 140 cm (SDS: 0.71) and head circumference 59.5 cm (SDS: +3.21). Pubic hair was Tanner stage 2, bilateral testes 3+3 mL palpable. There was multiple hyperpigmented lesions on the penile skin. His past medical history revealed that pubic hair development was reported at the age of 8 years. Laboratory examinations revealed a 17-OH progesterone level of 4.8 ng/mL, bone age compatible with 8 years. P. V281L heterozygous mutation was determined via CYP21A2 mutation screening performed for non-classic congenital adrenal hyperplasia. BRRS was primarily suspected in this case of macrocephaly, lipomatous lesions and pigmented macular lesions on the penis. Heterozygous p.C136R mutation was determined via PTEN mutation scanning

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. The purpose of this study is to present the clinical, biochemical and molecular characteristics of fifteen patients with MPS II in western Turkey.Materials and Methods:A retrospective study was carried out on fifteen patients with MPS II who were followed up by Ege University Faculty of Medicine, Unit of Pediatric Metabolic Diseases and Nutrition between October 2004 and September 2017.Results:The age range of the patients enrolled in the study was between 11 months and 318 months at the time of diagnosis. The most common symptom was coarse face. On physical examination, all of the patients presented with coarse face, macrocephaly and organomegaly. Except for one patient, all other were severe phenotype. IDS activity was significantly decreased in all patients in whom enzyme analysis was performed. In this study, one novel mutation was described.Conclusion:This is the first study on the clinical and molecular characterization of Turkish MPS II patients. The majority of the patients had neurologic involvement with different degrees of severity. The molecular analysis revealed one novel mutation

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with L2HGA.Results:There were eight patients with L2HGA. Their median age was 16 (9.5-37) years. Five of them were female and three of them were male. The main symptoms of the patients were psychomotor retardation (8/8), cerebellar ataxia (5/8), extrapyramidal symptoms (7/8) and seizures (4/8). All patients had behavioral problems. Elevated urinary L-2-hydroxy (L-2-OH) glutaric acid was detected and the median level of urine L-2-OH glutaric acid at diagnosis was 146 (60-1460 nmol/mol creat). Characteristic magnetic resonance imaging findings including subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus and putamen were detected. Two patients had homozygous R335X, two patients had homozygous R282Q, two patients had homozygous R302L and one patient had compound heterozygous P302L/A64T mutation in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene.Conclusion:Because of the slow progression of the disease, the diagnosis of the patients is usually belated. L2HGA must be considered in the differential diagnosis based on clinical findings and specific findings in cranial magnetic resonance imaging. In our study, one of our patients has a novel mutation

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosed with GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal. The patient has motor, mental retardation, hypotonia. Her weight standard deviation score (SDS) was -1.86 SDS, height SDS was -0.55 SDS, head circumference SDS was -1.01. The physical examination was normal except severe hypotonia. Spot blood carnitine profile, blood amino acid, urine organic acid, lactic acid and pyruvic acid were normal in repeated analysis. Dystonia and spastic tetraparesis developed on her follow-up. Cranial magnetic resonance imaging revealed bilateral cortical atrophy and bilateral striatal and caudate nucleus T2 flair hyperintensities. In GCDH gene analysis p.Y123C (c.368A>G)/p.L340F (c.368A>G) mutation was found. There was no history of encephalopathy. The patient treated with levodopa and trihexyphenidyl and lysine-restricted diet. In the presence of bilateral striatal involvement and cortical atrophy and dystonia, GA-I should be kept in mind. Blood carnitine profile and urine organic acid analyses may not be consistent. It is important to evaluate the cases for genetic investigation

Konvansiyonel renal hücreli kanser oluşumunda etkili olan genlerin metilasyon durumunun araştırılması

Renal hücreli karsinom (RCC) böbreğin en sık gözlenen malign tümörüdür. RCC tanısı konulduğu anda hastaların yaklaşık %30ʼunda metastaz gelişmiş durumdadır. Bu da hastaların önemli bölümünün hastalığın başlangıç aşamasından itibaren kötü bir sağkalım oranına sahip olmasına neden olmaktadır. Bu nedenle hastalığın erken tanısı büyük önem kazanmaktadır. Tümör baskılayıcı genlerdeki promotor bölge metilasyon değişikliklerinin kanserlerin oluşumunda önemli olduğu ve klinik olarak hastalık ortaya çıkmadan yıllarca önce başladığı bilinmektedir. Metilasyon spesifik PCR (MSP) hızlı, sensitivitesi yüksek ve çok sayıda hastanın aynı anda analiz edilebildiği bir yöntem olduğu için metilasyon çalışmalarında sıklıkla kullanılmaktadır. Bu çalışmada RCC oluşumunda etkili olduğu düşünülen 7 tümör baskılayıcı genin (RASSF1A, ECAD, TIMP3, APC, MGMT, p16, RAR{461}2) promotor bölge metilasyon durumunun 21 konvansiyonel RCC hastasına ait normal, premalign ve malign dokularda ayrı ayrı araştırılması ve bunun sonunda RCCʼnin erken tanısında kullanılabilecek olan bir gen paneli oluşturulması amaçlanmıştır. Metilasyon spesifik PCR ile yapılan metilasyon çalışması sonucunda, en az bir doku örneğinde metilasyon gözlenen hastaların yüzdesi RASSF1A geni için %76 (16/21), ECAD geni için %42 (9/21), TIMP3 geni için %33 (7/21), APC geni için %14 (3/21), MGMT geni için %33 (7/21), p16 geni için %80 (17/21) ve RAR{461}2 geni için %19 (4/21) olarak saptanmıştır. Sonuç olarak RASSF1A, ECAD, TIMP3, MGMT ve p16ʼdan oluşacak bir gen panelinin RCC olgularında %100 kapsayıcı olabileceği ortaya konmuştur. Böylece bu panelin RCCʼnin erken tanısı için bir hipermetilasyon gen paneli olarak kullanılabileceği kanısına varılmıştır

Genetic Codes of X-Linked Hypophosphatemia

X’e bağlı hipofosfatemi (XLH, OMIM 307800) kalıtsal raşitizmin en sık gözlenen formudur ve X’e bağlı dominant bir kalıtım şekli gösterir. Hastalığın genetik temelini PHEX (Phosphate regulating gene with Homology to Endopeptidases on the X chromosome) genindeki fonksiyon kaybettirici mutasyonlar oluşturur. PHEX genindeki bu mutasyonlar, henüz bilinmeyen bir mekanizmayla FGF23’ün aşırı üretimine neden olur. Bu gendeki mutasyonlar X’e bağlı dominant olarak kalıtılır. PHEX genindeki ilk mutasyon 1955 yılında tanımlanmıştır ve o günden günümüze kadar hastalıkla ilgili toplam 467 farklı mutasyon bildirilmiştir. PHEX genindeki mutasyonlar gen boyunca dağınık olarak bulunurlar ve herhangibir mutasyon sıcak noktası bulunmamaktadır. XLH’de belirgin bir genotip-fenotip korelasyonu bulunmamaktadır. XLH’de PHEX mutasyon taraması iki basamaklı yapılmalıdır. Öncelikle dizi analizi yöntemi ile nokta mutasyonlar araştırılmalıdır. Tüm olguların yaklaşık %15’inde dizi analizi yöntemi ile saptanamayan büyük delesyon/duplikasyonlar bulunmaktadır ve bu mutasyonlar MLPA (Multiple Ligation dependent Probe Amplifiation) yöntemi ile taranmalıdır. Mutasyon saptanan olguların ailelerinde kardeş/aile taraması yapılması erken tanı için oldukça önemlidir.X-linked hypophosphatemia (XLH, OMIM 307800) is the most common form of hereditary rickets and it is an X-linked dominantly inherited disorder. Loss of function mutations in the PHEX (Phosphate regulating gene with Homology to Endopeptidases on the X chromosome) gene are responsible for XLH. These mutations in the PHEX gene cause an elevation in FGF23 levels via an unknown mechanism. the fist mutation in the PHEX gene was identifid in 1955 and since then 467 different causal mutations have been identifid. Mutations in the PHEX gene are distributed across all coding exons and exon-intron boundaries and there is no specifi mutation hotspot in the gene. A genotype-phenotype correlation has not been well established. PHEX mutation screening is performed in a two-tier strategy. Sequencing of the coding exons and exon-intron boundaries can detect 85% of all causal mutations. Deletions/duplications are responsible for the remaining mutations and the MLPA (Multiple Ligation dependent Probe Amplifiation) method must be used in order to detect these mutations. Sibling/family screening is important in order to diagnose cases who have a high risk of developing XLH