Background: The role of vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms has been established in many autoimmune diseases, including vitiligo, but the result is still controversial. Objectives: The aim of this study was to investigate the serum vitamin D levels in vitiligo patients and to compare the association of VDR gene polymorphisms in vitiligo patients and healthy controls. Methods: We collected the data of age, sex, serum 25-hydroxy vitamin D (25[OH]D) level, thyroid autoantibodies, disease duration, types of vitiligo, family history and the affected body surface area of vitiligo from 172 patients. And we analyzed the VDR gene polymorphisms in 130 vitiligo and 453 age-sex-matched control subjects. Results: The mean serum level of 25(OH)D in 172 vitiligo patients was 18.75 ± 0.60 ng/mL, which had no significant difference with a mean serum value of 25(OH)D in the Korean population. However, there were significant differences according to the duration of the disease and family history. Also, there were no significant differences in the genotypic and allelic distributions of 37 examined SNPs of VDR gene between vitiligo patients and healthy controls. Conclusion Serum level of 25(OH)D in vitiligo patients was not significantly different from the mean serum value of the Korean population. Also, there were no significant differences in the genotypic distributions of VDR gene between vitiligo patients and healthy controls.

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant inherited genetic cutaneous disorder characterized by connective tissue nevi that may or may not be accompanied by sclerotic bone lesions (osteopoikilosis). BOS is caused by loss-of-function mutations in LEMD3. Skin lesions appear in childhood and may increase in size and number with age and primarily manifest as yellow or skin-colored plaques or papules. A 21-year-old male presented with brownish, firm plaques on his back and buttocks since childhood. He revealed a history of similar skin lesions in his mother and brother. He was incidentally diagnosed with osteopoikilosis, 2 years prior to presentation. Histopathological examination of a skin biopsy specimen revealed increased collagenous stroma. We report a rare case of Buschke-Ollendorff syndrome that presented with brownish plaques.

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant inherited genetic cutaneous disorder characterized by connective tissue nevi that may or may not be accompanied by sclerotic bone lesions (osteopoikilosis). BOS is caused by loss-of-function mutations in LEMD3. Skin lesions appear in childhood and may increase in size and number with age and primarily manifest as yellow or skin-colored plaques or papules. A 21-year-old male presented with brownish, firm plaques on his back and buttocks since childhood. He revealed a history of similar skin lesions in his mother and brother. He was incidentally diagnosed with osteopoikilosis, 2 years prior to presentation. Histopathological examination of a skin biopsy specimen revealed increased collagenous stroma. We report a rare case of Buschke-Ollendorff syndrome that presented with brownish plaques.

Secondary neoplasms in nevus sebaceous can develop during adolescence and adulthood. Trichoblastoma and syringocystadenoma papilliferum are the most common benign neoplasms, but poroma is rarely reported. A 28-year-old female presented with an asymptomatic mass on the scalp.She has had a hairless lesion on the scalp since birth. A soft mass developed on that lesion four years prior. Physical examination revealed a localized 1 cm×2.5 cm-sized brownish, verrucous-surfaced plaque with a 1 cm×1 cm-sized pedunculated erythematous tumor on the scalp. We performed skin biopsy on both the plaque and tumor lesions. The histopathological findings demonstrated the plaque lesion consistent with nevus sebaceous and the tumor lesion consistent with eccrine poroma. Surgical mass excision was performed.The patient was eventually diagnosed with eccrine poroma arising within nevus sebaceous. To the best of our knowledge, there are only six reported cases on poroma arising within nevus sebaceous. Although rarely documented in the literature, it should be considered as a secondary neoplasm within nevus sebaceous.

Radiogenomics or imaging genomics is a novel omics strategy of associating imaging data with genetic information, which has the potential to advance personalized medicine. Imaging features extracted from PET or PET/CT enable assessment of in vivo functional and physiological activity and provide comprehensive tumor information non-invasively. However, PET features are considered secondary to features on conventional imaging, and there has not yet been a review of the radiogenomic approach using PET features. This review article summarizes the current state of PET-based radiogenomic research for cancer, which discusses some of its limitations and directions for future study.

No abstract available.
Humans ; Trichophyton

PURPOSE: We developed predictive models using different programming languages and different computing platforms for machine learning (ML) and deep learning (DL) that classify clinical diagnoses in patients with epiphora. We evaluated the diagnostic performance of these models.METHODS: Between January 2016 and September 2017, 250 patients with epiphora who underwent dacryocystography (DCG) and lacrimal scintigraphy (LS) were included in the study. We developed five different predictive models using ML tools, Python-based TensorFlow, R, and Microsoft Azure Machine Learning Studio (MAMLS). A total of 27 clinical characteristics and parameters including variables related to epiphora (VE) and variables related to dacryocystography (VDCG) were used as input data. Apart from this, we developed two predictive convolutional neural network (CNN) models for diagnosing LS images. We conducted this study using supervised learning.RESULTS: Among 500 eyes of 250 patients, 59 eyes had anatomical obstruction, 338 eyes had functional obstruction, and the remaining 103 eyes were normal. For the data set that excluded VE and VDCG, the test accuracies in Python-based TensorFlow, R, multiclass logistic regression in MAMLS, multiclass neural network in MAMLS, and nuclear medicine physician were 81.70%, 80.60%, 81.70%, 73.10%, and 80.60%, respectively. The test accuracies of CNN models in three-class classification diagnosis and binary classification diagnosis were 72.00% and 77.42%, respectively.CONCLUSIONS: ML-based predictive models using different programming languages and different computing platforms were useful for classifying clinical diagnoses in patients with epiphora and were similar to a clinician's diagnostic ability.
Classification ; Dataset ; Diagnosis ; Humans ; Lacrimal Apparatus Diseases ; Learning ; Logistic Models ; Machine Learning ; Nuclear Medicine ; Programming Languages ; Radionuclide Imaging

BACKGROUND: Laser therapy can be used as an alternative treatment for onychomycosis; however, there are somelimitations to its efficacy as a single agent. OBJECTIVE: To evaluate the effectiveness of combination therapy with 1,064-nm neodymium-doped yttrium aluminum garnet (Nd:YAG) laser and topical efinaconazole in onychomycosis treatment and identify factors influencing the therapeutic outcomes of combination treatment. METHODS: Big toenails with onychomycosis were treated by 1,064-nm Nd:YAG laser at 4-week intervals with daily application of topical efinaconazole. Therapeutic response was assessed through onychomycosis severity index (OSI) and percentage of nail infected (PNI), and its association with a variety of factors that may affect treatment outcome was evaluated. RESULTS: One hundred big toenails were included in the study and significant clinical improvements were observed after treatment (OSI improvement score = 76.68 ± 28.83, PNI improvement score = 72.37 ± 30.37). There was no difference in treatment response according to the number of laser treatments, onychomycosis clinical type, or initial severity. However, patient age was negatively correlated with clinical improvement (p = 0.019). Also, female patients had better therapeutic responses than male patients. CONCLUSION Combined treatment with Nd:YAG laser and topical efinaconazole has a significant therapeutic effect on onychomycosis. A randomized controlled trial is warranted in the future.

PURPOSE: We developed predictive models using different programming languages and different computing platforms for machine learning (ML) and deep learning (DL) that classify clinical diagnoses in patients with epiphora. We evaluated the diagnostic performance of these models. METHODS: Between January 2016 and September 2017, 250 patients with epiphora who underwent dacryocystography (DCG) and lacrimal scintigraphy (LS) were included in the study. We developed five different predictive models using ML tools, Python-based TensorFlow, R, and Microsoft Azure Machine Learning Studio (MAMLS). A total of 27 clinical characteristics and parameters including variables related to epiphora (VE) and variables related to dacryocystography (VDCG) were used as input data. Apart from this, we developed two predictive convolutional neural network (CNN) models for diagnosing LS images. We conducted this study using supervised learning. RESULTS: Among 500 eyes of 250 patients, 59 eyes had anatomical obstruction, 338 eyes had functional obstruction, and the remaining 103 eyes were normal. For the data set that excluded VE and VDCG, the test accuracies in Python-based TensorFlow, R, multiclass logistic regression in MAMLS, multiclass neural network in MAMLS, and nuclear medicine physician were 81.70%, 80.60%, 81.70%, 73.10%, and 80.60%, respectively. The test accuracies of CNN models in three-class classification diagnosis and binary classification diagnosis were 72.00% and 77.42%, respectively. CONCLUSIONS ML-based predictive models using different programming languages and different computing platforms were useful for classifying clinical diagnoses in patients with epiphora and were similar to a clinician's diagnostic ability.