Artificial intelligence in Dermatopathology

Introduction

Ever evolving research in medical field has reached an exciting stage with advent of newer technologies. With the introduction of digital microscopy, pathology has transitioned to become more digitally oriented speciality. The potential of artificial intelligence (AI) in dermatopathology is to aid the diagnosis, and it requires dermatopathologists' guidance for efficient functioning of artificial intelligence.

Method

Comprehensive literature search was performed using electronic online databases “PubMed” and “Google Scholar.” Articles published in English language were considered for the review.

Results

Convolutional neural network, a type of deep neural network, is considered as an ideal tool in image recognition, processing, classification, and segmentation. Implementation of AI in tumor pathology is involved in the diagnosis, grading, staging, and prognostic prediction as well as in identification of genetic or pathological features. In this review, we attempt to discuss the use of AI in dermatopathology, the attitude of patients and clinicians, its challenges, limitation, and potential opportunities in future implementation.     

The impact of blue light and digital screens on the skin

Introduction

The skin is frequently subjected to a variety of environmental trauma and stress. It is unavoidably subjected to blue light due to the increased use of electronic equipment, including indoor lighting and digital gadgets like smartphones and laptops, which have a range of detrimental effects. The method of action and numerous harmful consequences of blue light on the skin are the main subjects of this review.

Materials and Methods

A literature search has been performed using PubMed, GoogleScholar and EmBase databases and an updated review on the topic has been presented.

Results

Numerous studies have shown that being exposed to blue light accelerates the aging process and produces cutaneous hyperpigmentation. It also modifies the circadian rhythm. The two main molecules that mediate cellular responses to blue light are nitric oxide (NO) and reactive oxygen species. However, the precise process is still not fully known.

Conclusion

These negative consequences may eventually cause more general skin damage, which may hasten the aging process. At times, skin protection may be crucial for protection against blue light.     

Evaluation of effectiveness of tranexamic acid as mesotherapy in improvement of periorbital wrinkling in a trial study

Background

Tranexamic acid is used to treat pigmented disorder in dermatology for a long time however there are limited data for effectiveness of tranexamic acid for rejuvenation and improvement of wrinkle. Here we want to find the effectiveness of tranexamic acid as mesotherapy in improvement of periorbital wrinkle in a clinical trial study.

Methods

Patients with melasma who were treated with 4 session of tranexamic acid mesotherapy at intervals on 1 week were evaluated with Visioface device before starting and 1 month after last course of treatment. The outcomes including volume, area, area percent, and depth were measured by Visioface device.

Results

Mean of periorbital wrinkles volume before and after procedure were 89 271 and 74 639 pixel³ (px³), respectively. Very significant difference with p-value of <0.001 was detected at volume of patient wrinkles before and after treatment. Moreover, the mean of area (and area percent) of their periorbital wrinkles before and after therapeutic method were 8481 Px³ (1.131%) and 7184 Px³ (0.646%), respectively, with significant differences (both have p-value of <0.001).Mean of periorbital wrinkles depth at before and after treatment were 9.8 and 9.6, respectively, without remarkable difference (p-value was 0.257).

Conclusion

Tranexamic acid mesotherapy significantly leads to reduced volume and area of wrinkles. Injection of tranexamic acid as mesotherapy seems to be effective in improvement of periorbital wrinkling.     

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next-generation sequencing (NGS), known and novel variants in this gene family causing autosomal recessive ID (ARID) have been identified in five Iranian families. By collecting clinical information on these families and comparing their phenotypes with previously reported patients, we further describe the clinical variability of ARID resulting from alterations in the EXOSC gene family, and emphasize the role of RNA processing dysregulation in ARID.     

An ultrasonographic investigation of deep neck flexor muscles cross-sectional area in forward and normal head posture

Background

As one of the most common work-related musculoskeletal disorders and postural deviations, forward head posture (FHP), is considered to lead to muscle imbalance.

The promising role of monoclonal antibodies for immunotherapy of the HIV-associated cancer,non-Hodgkin lymphoma

Association between HIV/AIDS and some of the cancers such as lymphomais is well known. Relative risk for developing non-Hodgkin lymphoma (NHL) increases 60–200 folds in HIV-infected individuals. Diffuse large B cell lymphoma (DLBCL), primary effusion lymphoma (PEL), Burkitt's lymphoma (BL) and Plasmablastic Lymphoma (PBL) are among the most frequent subtypes. During the last century, scientists found that the immune system could potentially detect and destroy cancer cells. Therefore, they started a new field of study, which is named immunotherapy. There are different immunotherapeutic methods, among which therapeutic antibodies, such as Brentuximabvedotin (Adcetris), Ibritumomabtiuxetan (Zevalin) and rituximab (Rituxan), used for treatment of NHLs showed promising results. In this article, we will review the immunotherapeutic option, monoclonal antibodies, for treatment of HIV-associated NHLs as well as their recent clinical status. We will also discuss the selective monoclonal antibody for each subtype of NHLs.     

Cephalometric risk factors of obstructive sleep apnea

Introduction: Previous studies on risk factors of obstructive sleep apnea (OSA) are highly controversial and mostly identifying a few cephalometric risk factors.

Methods: OSA diagnosis was made according to the patients’ apnea-hypopnea index (AHI). Included were 74 OSA patients (AHI > 10) and 52 control subjects (AHI ≤ 10 + free of other OSA symptoms). In both groups, 18 cephalometric parameters were traced (SNA, SNB, ANB, the soft palate’s length (PNS-P), inferior airway space, the distance from the mandibular plane to the hyoid (MP-H), lengths of mandible (Go-Gn) and maxilla (PNS-ANS), vertical height of airway (VAL), vertical height of the posterior maxilla (S-PNS), superior posterior airway space (SPAS), middle airway space, distances from hyoid to third cervical vertebra and retrognathion (HH1), C3 (C3H), and RGN (HRGN), the maximum thickness of soft palate (MPT), tongue length (TGL), and the maximum height of tongue). These parameters were compared using t-test.

Results: Significant variables were SPAS (p = 0.027), MPT, TGL, HH1, C3H, HRGN, PNS-P, S-PNS, MP-H, VAL, and Go-Gn (all p values ≤ 0.006).

Conclusion: OSA patients exhibited thicker and longer soft palates, hyoid bones more distant from the vertebrae, retrognathion, and mandibular plane, higher posterior maxillae, longer mandibles, and smaller superior-posterior airways.     

Inherited disorders of gamma‐aminobutyric acid metabolism and advances in ALDH5A1 mutation identification

Inherited disorders of gamma‐aminobutyric acid (GABA) metabolism include succinic semialdehyde dehydrogenase (SSADH) and gamma‐aminobutyric acid transaminase (GABA‐T) deficiencies. The clinical features, pathophysiology, diagnosis, and management of both, and an updated list of mutations in the ALDH5A1 gene, which cause SSADH deficiency, are discussed. A database of 112 individuals (71 children and adolescents, and 41 adults) indicates that developmental delay and hypotonia are the most common symptoms arising from SSADH deficiency. Furthermore, epilepsy is present in two‐thirds of SSADH‐deficient individuals by adulthood. Research with murine genetic models and human participants, using [¹¹C] flumazenil positron emission tomography (FMZ‐PET) and transcranial magnetic stimulation, have led to therapeutic trials, and the identification of additional disruptions to GABA metabolism. Suggestions for new therapies have arisen from findings of GABAergic effects on autophagy, with enhanced activation of the mammalian target of rapamycin (mTOR) pathway. Details of known pathogenic mutations in the ALDH5A1 gene, three of which have not previously been reported, are summarized here. Investigations into disorders of GABA metabolism provide fundamental insights into the mechanisms underlying epilepsy, and support the importance of developing biomarkers and clinical trials. Comprehensive definition of phenotypes arising as a result of deficiencies in both SSADH and GABA‐T may increase our understanding of the neurophysiological consequences of a hyper‐GABAergic state.     

Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis

OBJECTIVE: To assess the roles of the interleukin 4 (IL-4) and interferon-g (IFN-g) gene polymorphisms in a series of patients with biopsy-proven giant cell arteritis (GCA). METHODS: Eighty-two patients with biopsy-proven GCA and 102 ethnically matched controls from the Lugo region (Northwest Spain) were studied. The following single nucleotide polymorphisms (SNP) were assessed: IL-4 (SNP1: rs2070874, SNP2: rs2227284, SNP3: rs2227282, SNP4: rs2243266, and SNP5: rs2243267) and IFN-g (SNP1: rs1861494, SNP2: rs1861493, and SNP3: rs2069718). RESULTS: Significant differences in allele and genotype frequencies were observed for the IL-4 SNP between HLA-DRB1*04 negative patients and controls. Epistatic interaction between SNP2 (rs2227284) with HLA-DRB1 showed a significant interaction (p = 0.001) and carriage of the SNP2*T allele in the absence of HLA-DRB1*04 resulted in a 4-fold risk of developing GCA (OR 4.2, 95% CI 1.1-15.6). Also, a significant increase in the frequency of the T-T-C-A-C IL-4 haplotype was observed in HLA-DRB1*04 negative GCA patients compared to the controls (p = 0.02; OR 2.0, 95% CI 1.0-3.9). Similar distributions of allele and genotype frequencies were observed for the IFN-g polymorphisms in both GCA patients and controls. CONCLUSION: Our results suggest an association with IL-4 gene polymorphism that is dependent on HLA-DRB1 genotype in GCA susceptible individuals. These data indicate an interaction between HLA-DRB1 and IL-4 that contributes to pronounced disease susceptibility.