Diagnostic Terms Research Articles

Practical intelligent diagnostic algorithm for wearable 12-lead ECG via self-supervised learning on large-scale dataset

Cardiovascular disease is a major global public health problem, and intelligent diagnostic approaches play an increasingly important role in the analysis of electrocardiograms (ECGs). Convenient wearable ECG devices enable the detection of transient arrhythmias and improve patient health by making it possible to seek intervention during continuous monitoring. We collected 658,486 wearable 12-lead ECGs, among which 164,538 were annotated, and the remaining 493,948 were without diagnostic. We present four data augmentation operations and a self-supervised learning classification framework that can recognize 60 ECG diagnostic terms. Our model achieves an average area under the receiver-operating characteristic curve (AUROC) and average F1 score on the offline test of 0.975 and 0.575. The average sensitivity, specificity and F1-score during the 2-month online test are 0.736, 0.954 and 0.468, respectively. This approach offers real-time intelligent diagnosis, and detects abnormal segments in long-term ECG monitoring in the clinical setting for further diagnosis by cardiologists.

Assessing diagnostic certainty for scurvy and rickets in human skeletal remains.

Identifying scurvy and rickets has important implications for understanding adaptations and variability among past communities, and bioarchaeologists now regularly evaluate these conditions. Due to the increased number of studies, cases with less clear-cut lesions and variable preservation are now frequently reported. Despite an improved understanding of the biological mechanisms for disease expression, there is a lack of consensus on the language used to express diagnostic certainty, limiting comparability. This article aims to address these issues and provide recommendations on more consistent diagnostic terminology using widely accepted diagnostic methodology based on biological mechanisms. We review diagnostic terms used in bioarchaeology by considering published cases of rickets, scurvy and co-occurrence alongside M.B.B.'s past project notes. We also consider differences in the diagnosis of rickets and scurvy in living and archeological individuals. We provide recommendations on a framework that can be used to show diagnostic certainty in cases of rickets, scurvy, and co-occurrence. Core lesions of rickets and scurvy are used alongside a limited lexicon of diagnostic terminology based on the Istanbul protocol. It is not the number of lesions that determines whether an individual is assigned to a particular diagnosis category, but rather the range and expression of lesions present. Avoiding a "tick-list" approach to core lesions of these diseases will be critical to ensure that identifying rickets and scurvy continues to contribute to understanding adaptations and variability among past communities. The framework allows more consistency in diagnostic certainty, facilitating greater comparability in research.

Giant Peritoneal Loose Body Causing Acute Intestinal Obstruction: Case Report

Peritoneal loose bodies are a rare condition. They are caused by the peritoneal appendages that become inflamed and cause a buildup of material in the peritoneal cavity. This can be hard to spot because it's so rare. The availability of CT scans makes this diagnosis easier. A 77-year-old patient with hypertension and diabetes underwent peritoneal mouse challenge. The patient suffers from acute intestinal sub obstruction. CT scan revealed a mobile calcified density lesion approximately 5 cm in diameter in the peritoneal cavity. Peritoneal loose bodies are a rare complication of omental appendages that have distorted due to ischemic conditions. Laparoscopy excised a firm mass suggestive of primary omental appendicitis. Diagnostic terms for acute or chronic abdominal pain can be found in the general medical literature. Photographs of the affected individual's body show a large greasy or chalky substance.

Pathological features in non-neoplastic congenital and adult hyperinsulinism: from nesidioblastosis to current terminology and understanding.

Nesidioblastoma and nesidioblastosis were terms given to neoplastic and non-neoplastic lesions of the pancreas associated with pancreatogenous hyperinsulinaemic hypoglycaemia. While nesidioblastoma was rapidly replaced by islet cell tumour, nesidioblastosis, defined as the proliferation of islet cells budding off from pancreatic ducts, was the diagnostic term associated with congenital hyperinsulinism of infancy (CHI) and adult non-neoplastic hyperinsulinaemic hypoglycaemia (ANHH). When it was shown that nesidioblastosis was not specific for CHI or ANHH, it was no longer applied to CHI but kept for the morphological diagnosis of ANHH. In severe CHI cases, a diffuse form with hypertrophic ß-cells in all islets can be distinguished from a focal form with hyperactive ß-cells changes in a limited adenomatoid hyperplastic area. Genetically, mutations were identified in several ß-cell genes involved in insulin secretion. Most common are mutations in the ABCC8 or KCNJ11 genes, solely affected in the diffuse form and associated with a focal maternal allelic loss on 11p15.5 in the focal form. Focal CHI can be localized by 18F-DOPA-PET and is thus curable by targeted resection. Diffuse CHI that fails medical treatment requires subtotal pancreatectomy. In ANHH, an idiopathic form can be distinguished from a form associated with gastric bypass, in whom GLP1-induced stimulation of the ß-cells is discussed. While the ß-cells in idiopathic ANHH are diffusely affected and are either hypertrophic or show only little changes, it is controversial whether there is a ß-cell increase or ß-cell hyperactivity in patients with gastric bypass. Recognizing morphological signs of ß-cell hyperactivity needs a good knowledge of the non-neoplastic endocrine pancreas across all ages.

Paradigm Shift from Telemedicine to Autonomous Human Health and Performance for Long-Duration Space Missions

This paper discusses a Prognostics and Health Management [PHM]-based approach to implementing Human Health & Performance [HH&P] technologies. Targeted specifically are NASA Autonomous Medical Decision and Integrated Biomedical Informatics of Human Health, Life Support, and Habitation Systems in Technology Area 06 [TA 06] of NASA integrated technology roadmap [April 2012]. The proposed PHM-based implementation is to bridge PHM, an engineering discipline, to the HH&P technology domain to mitigate space travel risks by focusing on efforts to reduce countermeasure mass and volume, and drive down risks to an acceptable level. NASA Autonomous Medical Decision technology is based on wireless handheld devices and is a result of a necessary paradigm shift from telemedicine to HH&P autonomy. The Integrated Biomedical Informatics technology is based on Crew Electronic Health Records [CEHR], equipped with a predictive diagnostics capability developed for use by crew members rather than by healthcare professionals. This paper further explores the proposed PHM-based solutions for crew health maintenance in terms of predictive diagnostics to provide early and actionable real-time warnings to each crew member about health-related risks and impending health problems that otherwise might go undetected. The paper also discusses the paradigm’s hypothesis and its innovation methodology, as implemented with computed biomarkers. The suggested paradigm is to be validated on the International Space Station [ISS] to ensure that crew autonomy in terms of the inherent predictive capability and two-fault-tolerance of the methodology become the dominant design drivers in sustaining crew health and performance.

Incidence and cost of dermatofibrosarcoma protuberans in mainland urban China: a nationwide retrospective study 2014-2016.

Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma. Limited population-based epidemiological studies on DFSP have been conducted. We aimed to estimate the incidence and disease burden of DFSP in China. We conducted a cross-sectional study using data from the national databases of the Urban Basic Medical Insurance scheme. Cases were identified by ICD code and Chinese language diagnostic terms. National incidence from 2014 to 2016 was estimated by gender and age, and associated medical costs were calculated. A total of 175 patients were confirmed with DFSP from 2014 to 2016. Crude incidence varied from 0.353 per 100,000 (95%CI: 0.203-0.503) in 2014 to 0.367 per 100,000 (95%CI: 0.279-0.455) in 2016. Incidence was higher in males than in females. The first incidence peak was observed between the ages of 20 and 39 years and the highest incidence rates were in those aged over 60 years. Average medical costs of DFSP were higher than the per capita disposable income of residents. Incidence of DFSP in mainland urban China is lower than in most developed countries and has remained relatively stable from 2014 to 2016. Further research is expected to clarify the potential pathophysiological mechanisms of DFSP.

Superficial siderosis: comparison of two cases indicates two distinct diagnostic entities. Illustrative cases.

Superficial siderosis is the deposition of hemosiderin in the superficial layers of the central nervous system. It has been described in patients with chronic leakage of blood into the cerebrospinal fluid or with amyloid angiopathy, often associated with Alzheimer's disease (AD). We present two cases of superficial siderosis with vastly different symptomatologies and treatment courses. The patient in case 1 had diffuse superficial siderosis demonstrated on T2-weighted magnetic resonance imaging (MRI), appearing mostly in the inferior cerebellum and extending throughout the neuraxis. He presented with hearing loss, spasticity, gait abnormalities, and urinary incontinence. Ultimately, surgical exploration of the thoracic spinal dura revealed an arteriovenous fistula, which was obliterated. His clinical course stabilized but with persistent deficits. The patient in case 2 had a family history of AD and underwent MRI to evaluate for memory impairment, which demonstrated superficial siderosis of the left occipital lobe. Lumbar puncture demonstrated only traumatic contamination by red blood cells, but tau protein analysis was consistent with the diagnosis of AD. Superficial siderosis is a diagnostic term prompted by findings on MRI that can arise due to two different pathological entities. The diagnosis in case 1 should be termed diffuse superficial siderosis and in case 2 should be termed lobar cortical siderosis.

Hidden in plain sight: A qualitative exploration of teachers and children’s perspectives on supporting developmental language disorder in school

BACKGROUND: Developmental language disorder (DLD) is a difficulty learning, understanding, and using spoken language with lifelong implications for education and well-being. Teachers play a key role in the identification of DLD, in referring children to speech and language therapy services, and in the delivery of supports in school. Research suggests that school staff may benefit from health promotion interventions to increase their awareness and understanding of the condition. OBJECTIVE: The aim of this study was to explore the awareness and understanding of teachers and children about DLD and how these needs can be met in school to inform the development of a locally- responsive health promotion DLD intervention. METHODS: Semi-structured interviews with children with DLD (n = 7), and focus groups were held with classroom teachers (n = 7) in schools serving populations of high socioeconomic need using a narrative inquiry approach. A framework analysis was undertaken using the International Classification of Functioning (ICF). RESULTS: Teachers reportedly continue to use a variety of diagnostic terms when describing DLD. All stakeholders discussed the importance of the teacher’s role in making the necessary classroom adjustments to enable children with DLD to achieve and participate. Children provided some practical suggestions regarding how their needs can be met in the classroom. CONCLUSIONS: The study findings highlight the important contextual insights that teachers and children can provide to inform the development of locally responsive, health promotion interventions aimed at increasing awareness, knowledge and actions related to DLD in school.

Design of a Convolutional Neural Network as a Deep Learning Tool for the Automatic Classification of Small-Bowel Cleansing in Capsule Endoscopy.

Background and objectives: Capsule endoscopy (CE) is a non-invasive method to inspect the small bowel that, like other enteroscopy methods, requires adequate small-bowel cleansing to obtain conclusive results. Artificial intelligence (AI) algorithms have been seen to offer important benefits in the field of medical imaging over recent years, particularly through the adaptation of convolutional neural networks (CNNs) to achieve more efficient image analysis. Here, we aimed to develop a deep learning model that uses a CNN to automatically classify the quality of intestinal preparation in CE. Methods: A CNN was designed based on 12,950 CE images obtained at two clinical centers in Porto (Portugal). The quality of the intestinal preparation was classified for each image as: excellent, ≥90% of the image surface with visible mucosa; satisfactory, 50-90% of the mucosa visible; and unsatisfactory, <50% of the mucosa visible. The total set of images was divided in an 80:20 ratio to establish training and validation datasets, respectively. The CNN prediction was compared with the classification established by consensus of a group of three experts in CE, currently considered the gold standard to evaluate cleanliness. Subsequently, how the CNN performed in diagnostic terms was evaluated using an independent validation dataset. Results: Among the images obtained, 3633 were designated as unsatisfactory preparation, 6005 satisfactory preparation, and 3312 with excellent preparation. When differentiating the classes of small-bowel preparation, the algorithm developed here achieved an overall accuracy of 92.1%, with a sensitivity of 88.4%, a specificity of 93.6%, a positive predictive value of 88.5%, and a negative predictive value of 93.4%. The area under the curve for the detection of excellent, satisfactory, and unsatisfactory classes was 0.98, 0.95, and 0.99, respectively. Conclusions: A CNN-based tool was developed to automatically classify small-bowel preparation for CE, and it was seen to accurately classify intestinal preparation for CE. The development of such a system could enhance the reproducibility of the scales used for such purposes.

Large B-Cell Lymphomas in the 5th Edition of the WHO-Classification of Haematolymphoid Neoplasms—Updated Classification and New Concepts

The family/class of the large B-cell lymphomas (LBCL) in the 5th edition of the World Health Organization (WHO) classification of haematolymphoid tumors (WHO-HAEM5) features only a few major changes as compared to the 4th edition. In most entities, there are only subtle changes, many of them only representing some minor modifications in diagnostic terms. Major changes have been made in the diffuse large B-cell lymphomas (DLBCL)/high-grade B-cell lymphomas (HGBL) associated with MYC and BCL2 and/or BCL6 rearrangements. This category now consists of MYC and BCL2 rearranged cases exclusively, while the MYC/BCL6 double hit lymphomas now constitute genetic subtypes of DLBCL, not otherwise specified (NOS) or of HGBL, NOS. Other major changes are the conceptual merger of lymphomas arising in immune-privileged sites and the description of LBCL arising in the setting of immune dysregulation/deficiency. In addition, novel findings concerning underlying biological mechanisms in the pathogenesis of the different entities are provided.

Current evidence for avoidant restrictive food intake disorder: Implications for clinical practice and future directions.

ARFID (avoidant restrictive food intake disorder) is a relatively new diagnostic term covering a number of well-recognised, clinically significant disturbances in eating behaviour unrelated to body weight/shape concerns. Its phenotypic heterogeneity combined with much about the condition remaining unknown, can contribute to uncertainties about best practice. While other reviews of the evidence base for ARFID exist, few specifically target health care professionals and implications for clinical practice. A narrative review was conducted to synthesise the findings of ARFID papers in scientific journals focussing on four key areas relevant to clinical practice: prevalence, assessment and characterisation of clinical presentations, treatment, and service delivery. Freely available online databases were searched for case studies and series, research reports, review articles, and meta-analyses. Findings were reviewed and practice implications considered, resulting in proposed clinical recommendations and future research directions. We discuss what is currently known about the four key areas included in this review. Based on available evidence as well as gaps identified in the literature, recommendations for clinical practice are derived and practice-related research priorities are proposed for each of the four of the areas explored. Prevalence studies highlight the need for referral and care pathways to be embedded across a range of health care services. While research into ARFID is increasing, further studies across all areas of ARFID are required and there remains a pressing need for guidance on systematic assessment, evidence-based management, and optimal service delivery models. Informed clinical practice is currently predominantly reliant on expert consensus and small-scale studies, with ongoing routine clinical data capture, robust treatment trials and evaluation of clinical pathways all required. Despite this, a number a positive practice points emerge.

Hearing and Visual Impairment in Children with Cerebral Palsy, A Study in Tertiary Level Hospital in Bangladesh

Background: Cerebral palsy (CP) is a diagnostic term used to describe a group of motor syndromes resulting from disorders of early brain development. CP remains unexplained in most cases and is typically diagnosed outside the neonatal period. Visual impairment decreases the quality of life and hearing impairment hampers linguistic development. This study aimed to observe the visual and hearing impairment of children with cerebral palsy associated with developmental disabilities. Material Methods: This is a cross-sectional observational descriptive study carried out in the department of Paediatric Neurology CMH Dhaka from March 2018 to February 2022. The participants (N=120) were from birth to 12 years of age. Detailed information was obtained in each case according to protocol. The pediatric neurologist based on the study definition crosschecked the diagnosis. The hearing assessment was done with the help of an Otolaryngologist in the department of Otolaryngology and the ophthalmological evaluation was done with the help of an ophthalmologist of the department of ophthalmology of CMH Dhaka. Hearing impairment, Ophthalmological motor disturbance, and developmental disabilities were correlated. A convenience sampling technique was used in this study. Relevant data were collected from hospital records. All the information was recorded in the fixed protocol. Collected data were classified, edited, coded, and entered into the computer for statistical analysis by using SPSS 2021. Results: In this study, among the 120 children with CP, the mean age of the study was 5.57(SD±3.89) age range of 2-12 years Males were 82(68%) and females were 38(32%), male-female ratio (sex M: F 2.15: 1). Spastic quadriplegia constitutes the predominant group 59(49%), followed by Spastic diplegia 21(18%), Spastic hemiplegia 20(17.5%), dyskinetic CP 09(8%), 7(6%) were mixed CP and 4(3%) were hypotonic CP. Hearing impairment was found in 87 (72%) cases and visual impairment was detected in 92(76%). Among them, the child with Spastic Quadriplegic (83%) and diplegic CP (62%) children had a hearing impairment. Regarding vision, no fix and follow were observed in 69(57%) cases. Among the studied CP child (n=120) 16 children (13.33%) had normal eye finding and 104 (86%) had abnormal eye findings. Refractive error (32.5%) and Squint (19%) were the most common ocular defect among studied patients. Other ocular defect were nystagmus(10%), optic atrophy(12.5%), microphthalmia(10%), corneal opacity(3%), optic hypoplasia(4.1%), cataract(2.5%), pigmentary retinopathy(5%), retro-lental fibroplasias(3.3%) and ptosis(2.5%). In children with hypotonic (athetoid) and mixed CP, almost all (11 of 11) children had visual impairment. Spastic quadriplegic CP children (80%) and Spastic diplegic CP children (90%) had one or more domains of visual impairment. Conclusion: Cerebral Palsy is a non-progressive various form of neurological disorder in children. Early visual screening and hearing assessment can help CP children to minimize mental retardation, learning difficulties, and speech delay.

Community acquired pneumoniae and chronic obstructive pulmonary disease: the RWE analysis of events that required hospitalizations, and healthcare integrated costs.

The community-acquired pneumonia (Cap) and the acute exacerbation of chronic obstructive pulmonary disease (Aecopd) frequently receive wrong therapies, leading to the increase of healthcare consumption resources, direct and indirect costs, and antimicrobial resistance. This study identified Cap and Aecopd hospitalized events, and analyzed them in terms of comorbidities, antibiotic use, re-hospitalizations, diagnostics and costs, from the perspective of the Italian national health service (Inhs). From the database of Fondazione Ricerca e Salute (ReS), hospitalizations for Cap and Aecopd from 2016 to 2019. Demographics, comorbidities and mean in-hospital stay at the baseline, antibiotics reimbursed by the Inhs within 15 days before and after the index event, outpatient diagnostics performed before the event and in-hospital diagnostics, and direct costs charged to the Inhs, are assessed. From 2016 to 2019 (~5 million inhabitants/year), 31,355 events of Cap (1.7x1000/year) and 42,489 events of Aecopd (4.3x1000 inhabitants aged ≥45/year) were identified, of which 32% and 26.5%, respectively, were treated with antibiotics before the hospitalization. The highest frequency of hospitalizations and comorbidities, and the longest mean in-hospital stays are found among elderly. Events not treated before and after the hospitalization showed the longest in-hospital stay. More than 12 Ddd (defined daily dose) are dispensed after the discharge. Local outpatient diagnostics are performed before the admission to <1% of the events; in-hospital diagnostics are registered in 5.6% and 1.2% of Cap and Aecopd, respectively, discharge forms. About 8% and 24% of Cap and Aecopd, respectively, are re-hospitalized during one subsequent year, mainly within one month. The mean expenditures per event of Cap and Aecopd were € 3646 and € 4424, respectively: hospitalizations, antibiotics and diagnostics accounted for the 99%, 1% and <0.1% of the total expense, respectively. This study provided a very high dispensation of antibiotics after the hospitalization for Cap and Aecopd, while a very low use of differential diagnostics available within the observed periods, to the detriment of the enforcement actions proposed at institutional levels.

Importance of self‐induced vertical wind shear and diabatic heating on the Fujiwhara effect

AbstractThis study hypothesises that the motion of binary tropical cyclones (TCs) can be modified by diabatic heating (DH) asymmetry associated with self‐induced vertical wind shear. To demonstrate this hypothesis in the quiescent environment, a set of the idealised f‐plane numerical experiments such as identical (varied in the initial separation distance) and non‐identical (varied in TC intensity and size) experiments are conducted. Results show that the binary TC tracks are affected by the initial separation distance, and TC intensity and size, that is, TC influence radius. Identical experiments show that the critical distance for separating, merging or repelling motion is 8° (where 1° ≃ 111 km). The binary TC interaction shows that single large‐scale cyclonic and anticyclonic circulations can develop as a result of the superposition of the circulation of the binary TCs in the lower and upper troposphere. These two different large‐scale circulations result in a vertically sheared environment in each TC. Potential vorticity (PV) tendency diagnosis shows that the TC motion is consistent with a positive region of the local tendency of PV. To quantify the contribution of each PV diagnostic term to the TC motion, we calculate each vector of the PV tendency diagnostic equation. In the merger case, the horizontal advection vector (HADV) appears to be greater than the DH vector (DHV) due to attraction. In the repulsion case, the DHV is largely compensated by the HADV. Specifically, the strong shear‐induced DH generated in the lower troposphere and downshear or downshear‐left quadrant can modify the TC motion in collaboration with the transport of PV to the middle and upper troposphere by offsetting the PV imbalance via the HADV. Overall, these results validate our hypothesis, which we refer to as the three‐dimensional Fujiwhara effect.

Diagnostic procedures of paediatric speech and language therapists in the UK: Enabling and obstructive factors.

Extensive variation in the terminology used for paediatric diagnoses across the speech and language therapy research literature is an internationally recognized problem. Little is known, however, about how and how often diagnoses are given in a clinical context. In the UK, speech and language therapists (SLTs) identify and support children who have speech and language needs. To understand and address clinically rooted terminological issues that may directly impact clients and families, there is a need for exploration of how the diagnostic process is operationalized in practice. To identify, from the perspective of SLTs, areas that present as enabling and obstructive factors to conducting diagnosis in clinical practice. Taking a phenomenological approach, 22 paediatric SLTs were interviewed using a semi-structured format. Thematic analysis revealed a number of factors that were either classified as 'enabling' or 'obstructive' to their diagnostic processes. Participants were often hesitant to provide a diagnosis to families and universally reported the need for targeted guidance, which accounts for the demands of current clinical practice, to guide their diagnostic process. Four enabling factors were identified from participant data: (1) working to a medical model, (2)the availability of collegiate support, (3) recognizing the benefits of diagnosis,, and (4) relating to the needs of the family. Seven themes portrayed obstructive factors in practice: (1) the complex presentation of clients, (2) the risk of giving a 'wrong' diagnosis, (3) participants' uncertainty about diagnostic criteria, (4) insufficient training, (5) service models, (6) concerns about stigma and (7) not having enough clinical time. The obstructive factors created dilemmas for participants and resulted in hesitancy to give a diagnosis, potentially contributing to delays in diagnosis experienced by families as reported in previous literature. Of paramountcy to SLTs were the individual needs and preferences of their clients. Practical barriers and areas of uncertainty increased hesitance to diagnose, which may inadvertently preclude families from accessing resources. Recommendations include more widely accessibletraining in diagnostic practice, guidelines to support clinical decision-making, and a greater understanding of client preferences with regard to terminology and its potential relationship with social stigma. What is already known on the subject Inconsistency in terminology for paediatric language diagnoses has been broadly discussed, mostly in reference to variation within research literature. The Royal College of Speech and Language Therapists' (RCSLT) position statement on developmental language disorder (DLD) and language disorder made recommendations for SLTs to use these terms in clinical practice. There is some evidence that SLTs face challenges in operationalizing diagnostic criteria in practice, particularly given financial and resource constraints. What this paper adds to existing knowledge SLTs disclosed several issues that either supported or were obstructive to the practice of diagnosing paediatric clients and delivering this information to families. Whilst most SLTs faced constraints related to the practicalities and demands of clinical practice, a number also held reservations about the impact of a lifelong diagnosis for young clients. These issues resulted in considerable avoidance of formal diagnostic terminology, in favour of description or informal terminology. What are the potential or actual clinical implications of this work? If diagnoses are not given, or if SLTs are using informal diagnostic terms as an alternative strategy, clients and families may experience reduced opportunities to yield benefits associated with a diagnosis. Clinical guidance that specifically addresses the prioritization of time and provides directives for clinical action in instances of uncertainty may support SLTs to feel confident in giving diagnoses.

The role of microRNAs in depression.

Major depressive disorder (MDD) is a psychiatric disorder with increasing prevalence worldwide. It is a leading cause of disability and suicide, severely affecting physical and mental health. However, the study of depression remains at an exploratory stage in terms of diagnostics and treatment due to the complexity of its pathogenesis. MicroRNAs are endogenous short-stranded non-coding RNAs capable of binding to the 3'untranslated region of mRNAs. Because of their ability to repress translation process of genes and are found at high levels in brain tissues, investigation of their role in depression has gradually increased recently. This article summarizes recent research progress on the relationship between microRNAs and depression. The microRNAs play a regulatory role in the pathophysiology of depression, involving dysregulation of monoamines, abnormalities in neuroplasticity and neurogenesis, hyperactivity of the HPA axis, and dysregulation of inflammatory responses. These microRNAs might provide new clue for the diagnosis and treatment of MDD, and the development of antidepressant drugs.

Is It Time to Supersede the Diagnostic Term "Melanoma In Situ with Regression?" A Narrative Review.

Traditionally, the term melanoma in situ (MIS) is used to designate a horizontal (radial) growth phase of malignant melanoma (MM) in which there is no histological evidence of any invasion (or microinvasion) of neoplastic melanocytic cells into the superficial or papillary dermis. In daily dermatopathological practice, we are faced with misleading definitions, such as "melanoma in situ with regression," which risk affecting homogeneity for comparison purposes of pathological reports of malignant melanoma. The authors conducted a literature review using PubMed and Web of Science (WoS) as the main databases and using the following keywords: "Malignant Melanoma in situ" or "Melanoma in situ" and "regression" and/or "radial growth phase regression." A total of 213 articles from both analyzed databases were retrieved; finally, only eight articles in English were considered suitable for the chosen inclusion criteria. In consideration of the absence of studies with large case series, of reviews with meta-analyses, and, therefore, of a broad scientific consensus, expressions including "melanoma in situ with regression" should be avoided in the histopathological report. Instead, they should be replaced with clearer and more exhaustive definitions.

Involvement of the vitamin D receptor gene in the development of idiopathic short stature

Background. The vitamin D receptor (VDR) gene is localized in the chromosome 12 (region 12q13). Its polymorphic variants BsmI and FokI are the most promising in clinical and diagnostic terms. During normal ontogenesis, the VDR gene affects the total bone content in the body and its resulting length determined by the development of the skeleton. The aim of the study was to assess genotypic features in children with idiopathic short stature. Materials and methods. Determination of the BsmI polymorphism in the VDR gene (rs1544410) was performed by polymerase chain reaction followed by analysis of the length of restriction fragments when detected by agarose gel electrophoresis in 18 prepubertal children with idiopathic short stature. Results. In the group of children with idiopathic short stature, the proportion of the GG genotype is four times higher than in the control group. In children of the G/A heterozygotes, the risk of idiopathic short stature is significantly high (odds ratio (OR)=6.00; 95% confidence interval (CI) 2.06–17.48; p&lt;0.01); in the G/G variant, it is high but not significant (OR=4.54; 95% CI 0.70–29.31; p=0.11). Patients with the AA genotype were three times less than in the control group, indicating that the AA homozygotes have a threefold reduction in the risk of idiopathic short stature compared to an empirical risk. The frequency of the G allele in patients (qG=0.444) is almost three times higher than in the group of healthy individuals (qG=0.152), indicating that the carriage of the G allele of the rs1544410 BsmI polymorphic locus of the VDR gene is significantly associated with the risk of developing idiopathic short stature (OR=4.46; 95% CI 3.60–5.51; p&lt;0.001). Conclusions. In children with the G/A and G/G genotypes, the risk of idiopathic short stature increases, and the presence of the A/A genotype is a protective polymorphism against idiopathic short stature. Carriage of the G allele of the rs1544410 BsmI polymorphic locus of the VDR gene is associated with the risk of idiopathic short stature, despite the almost perfect distribution of genotypes.

Implementing the Melanocytic Pathology Assessment Tool and Hierarchy for Diagnosis: Long-term effect of a simple educational intervention

A standardized pathology management tool for melanocytic skin lesions may improve patient care by simplifying interpretation and categorization of the diverse terminology currently extant. To assess an online educational intervention that teaches dermatopathologists to use the Melanocytic Pathology Assessment Tool and Hierarchy for Diagnosis (MPATH-Dx), a schema collapsing multiple diagnostic terms into 5 classes ranging from benign to invasive melanoma. Practicing dermatopathologists (N = 149) from 40 US states participated in a 2-year educational intervention study (71% response rate). The intervention involved a brief tutorial followed by practice on 28 melanocytic lesions, with the goal of teaching pathologists how to correctly use the MPATH-Dx schema; competence using the MPATH-Dx tool 12-24months postintervention was assessed. Participants' self-reported confidence using the MPATH-Dx tool was assessed preintervention and postintervention. At preintervention, confidence using the MPATH-Dx tool was already high, despite 68% lacking prior familiarity with it, and confidence increased postintervention (P = .0003). During the intervention, participants used the MPATH-Dx tool correctly for 90% of their interpretations; postintervention, participants used the MPATH-Dx tool correctly for 88% of their interpretations. Future research should examine implementing a standardized pathology assessment schema in actual clinical practice. Dermatopathologists can be taught to confidently and competently use the MPATH-Dx schema with a simple educational tutorial followed by practice.

Adverse health correlates of intimate partner violence against older women: Mining electronic health records.

Intimate partner violence (IPV) is often studied as a problem that predominantly affects younger women. However, studies show that older women are also frequently victims of abuse even though the physical effects of abuse are harder to detect. In this study, we mined the electronic health records (EHR) available through IBM Explorys to identify health correlates of IPV that are specific to older women. Our analyses suggested that diagnostic terms that are co-morbid with IPV in older women are dominated by substance abuse and associated toxicities. When we considered differential co-morbidity, i.e., terms that are significantly more associated with IPV in older women compared to younger women, we identified terms spanning mental health issues, musculoskeletal issues, neoplasms, and disorders of various organ systems including skin, ears, nose and throat. Our findings provide pointers for further investigation in understanding the health effects of IPV among older women, as well as potential markers that can be used for screening IPV.