Modern Diagnosis Research Articles

Спадкові нейрошкірні синдроми (факоматози) — огляд літератури

The article summarizes the issues of modern classification, clinical course, manifestations, diagnosis and symptomatic treatment of hereditary neurocutaneous syndromes — phakomatoses.

ИННОВАЦИОННЫЕ МЕТОДЫ ДИАГНОСТИКИ БРУКСИЗМА В СОВРЕМЕННОЙ СТОМАТОЛОГИИ

The article is devoted to one of the most important problems in modern dentistry – bruxism. The relevance is associated with an increase in the prevalence of bruxism in patients of different age groups. The article discusses etiological factors, clinical manifestations and various diagnostic methods for patients with bruxism. The material of the review is the long-term research of domestic and foreign scientists devoted to the etiology and modern diagnosis of patients with bruxism. Using the Elibrary search engine, 17 articles were selected for the time period from 2003 to 2023. The article uses a descriptive method that allowed us to consider the current state of the problem and outline ways to further solve it. The main content of the study is the analysis of innovative methods for the diagnosis of bruxism, which make it possible to diagnose pathology at the initial stage of the disease and start its treatment in a timely manner. The article emphasizes the need to supplement existing clinical recommendations with innovative methods and diagnostic tools for this pathology. As a result of the analysis of the literature, the authors developed a systematization of all methods of diagnosing bruxism by the subject of the study. The article discusses research aimed at studying the occlusal relationship of the jaws, the diagnosis of a psychopathological condition, the diagnosis of musculoskeletal dysfunction, the diagnosis of neurotransmitter imbalance and the detection of diseases of the musculoskeletal system. The authors concluded that with the advent and introduction of computer technologies into dental practice, innovative methods and tools for diagnosing bruxism were developed, which led to a significant improvement in the quality of dental care provided. Special attention is paid in the article to the importance of the principle of primacy and an interdisciplinary approach in conducting diagnostic studies aimed at identifying bruxism.

A redescription and new generic placement of the New Zealand marine-associated jumping spider Marpissa marina (Goyen, 1892) (Araneae: Salticidae: Euophryini)

ABSTRACT The jumping spider Marpissa marina (Goyen, 1892) is endemic to Aotearoa New Zealand. In this paper, we redescribe the species. Marpissa marina was placed in the Northern Hemisphere genus Marpissa due to its subjective similarity to spiders in that genus. The original description lacked modern morphological diagnoses and useful illustrations. The description was based largely on the female, and therefore lacked the taxonomically important characters seen in the male pedipalp. Previous literature has suggested M. marina may be related to the Australian genus, Maratus Karsch, 1878. We applied an integrative taxonomic approach based on diagnostic morphological characters and molecular analysis for a more detailed species description and assignment into an appropriate genus. Morphological features indicate that M. marina belongs to Maratus. This is supported by phylogenetic analyses using DNA sequences from the nuclear gene Actin 5C and the mitochondrial gene 16S ribosomal RNA. We transfer Marpissa marina into the genus Maratus, as Maratus marinus (Goyen, 1892), new combination.

The state of cancer care in Russia: pancreatic cancer (C25). Diagnosis, prevalence, quality of accounting, typical mortality. Part 1. (clinical and population-based research)

The study focuses on pancreatic cancer (C25), a malignant neoplasm arising from the ductal epithelium or glandular tissue of the pancreas, which accounts for 3% of the overall cancer incidence in Russia. The rates of incidence and mortality are rising, with the number of newly registered patients in Russia being lower than the number of recorded deaths, although the one-year mortality rate among patients is decreasing. The direct cause of pancreatic cancer (C25) remains unknown. Risk factors for developing this condition include genetics, smoking, alcohol abuse, a sedentary lifestyle, excessive meat consumption, and a lack of plant-based foods in the diet. Diseases associated with a high risk of this pathology include long-standing chronic pancreatitis, newly diagnosed type 2 diabetes in individuals aged 50-70, and cystic neoplasms of the pancreas. The aim of the study is to examine the patterns of incidence and mortality, the quality of patient registration, the characteristics of tumor localization, and the histological structure of pancreatic cancer (C25). The study will also track the nature of annual mortality among patients and explore the possibilities, methods, and techniques of modern diagnosis and treatment for these patients. The research confirmed the significant burden of pancreatic cancer (C25), primarily due to the late detection of this disease. The study provided sufficient material to analyze age-related risk factors, as well as the patterns of incidence and mortality in the population. It also examined and presented mortality rates among patients, including during the first year of observation.

Ancient and modern bone diagnosis: Towards a better understanding of chemical and structural feature alterations

Chemical and structural alterations hold great importance in the field of diagenesis. Attenuated Total Reflectance − Fourier Transform Infrared Spectroscopy (ATR-FTIR) is a valuable method for examining bio-apatite composition changes. Infrared spectroscopy (IR) and X-ray diffraction (XRD) were employed to analyze both modern and archaeological bone specimens. Organic and mineral component changes in modern and ancient samples were investigated. Ancient bone samples were collected from two archaeological sites in Jordan, dating back to the Iron and Byzantine ages. IR results indicated that collagen cross-links and mineral maturity are higher in modern bones compared to ancient bones. Additionally, the crystallinity index is higher in modern bones than in archaeological bones, while the carbonate to phosphate ratio (C/P) is lower in modern bones than in ancient ones. Curve fitting was applied to reveal the carbonate substitution inside the hydroxyapatite lattice within the IR region from 850 to 890 cm−1. A2-type carbonates (identified as υ2 of CO32−) denote hydroxyl site substitution, and B-type carbonates represent a substitution to the phosphate site. The full width at half maximum (FWHM) of the peak at 604 cm−1 from IR spectra reveals that crystallinity is higher in modern bones, as confirmed by the FWHM of the (002)-apatite pattern in XRD. Statistical analysis was conducted to validate these findings, ensuring the robustness of the results. Finally, the results obtained in this investigation align with previous literature reports regarding ATR-FTIR ratios. This suggests that modern bones have better crystallinity compared to ancient bones. Furthermore, the ATR-FTIR ratios indicate that the hydroxyl and phosphate sites of modern bones undergo more substitution than older bones. The findings of this study not only enhance our understanding of the diagnostic processes in archaeological bone specimens but also have broader implications for fields such as archaeology, anthropology, and forensics, where the analysis of bone composition and structural changes can provide valuable insights into the history and characteristics of ancient remains.

“The Society of the Spectacle”: a Diagnosis of (Post)Modernity and Its Challenges

This paper critically examines the complexities of contemporary society through the theoretical framework of Guy Debord’s The Society of the Spectacle (1967), highlighting how modernity has transformed individuals from passive observers of the world to egomaniacal creators of their own reality, ultimately leading to a sense of alienation and existential unease. Furthermore, the paper elucidates the transition from a state of survival to one of collective psychosis, where the pursuit of abundance and commodification has ensnared individuals within a perpetual cycle of materialism and alienation. Debord’s concept of the spectacle is discussed to demonstrate how it has evolved into a tool for the suppression of genuine human interaction and a mechanism for upholding the prevailing status quo. The pivotal role played by the Situationist International and Guy Debord in confronting this social paradigm is also explored. Emphasis is placed on their concerted efforts to foment change and reignite a sense of enchantment in a world that has forfeited its mystique. In conclusion, the paper acknowledges the enduring relevance of Debord’s insights in the contemporary milieu, positing that rebellious youth, seeking to secure their own freedom, should turn to his works for guidance in addressing the challenges posed by “the society of the spectacle”.

Determination of antinuclear antibodies: role in modern differential diagnosis of connective tissue autoimmune diseases

There is an increase in autoimmune rheumatic diseases among all age population groups globally. Diagnosis is often difficult, because the early stages of the diseases usually do not have specific symptoms. Often, clinical manifestations of autoimmune diseases and non-autoimmune pathologies have similar symptoms. Therefore, the differential diagnosis could be very difficult. Most often, the determination of antinuclear autoantibodies is used for laboratory diagnosis of connective tissue systemic diseases. Autoantibodies can be detected in patients long time before the appearance of symptoms. The correct diagnosis is very important because the therapy of various nosologies can be different. It is especially significant with the invention of targeted therapy. Further analysis of the diagnostic value of autoantibody determination is very important. This article presents examination and follow-up data of three children. The analysis of medical documentation was carried out. The role of determining autoantibodies in the differential diagnosis of autoimmune connective tissue diseases was analyzed. In the first patient with Sjögren’s syndrome, the clinical picture of the underlying disease developed at least 5 years after the detection of high levels anti-SS-A, SS-B and Ro-52 antibodies (immunoblotting) and the speckled pattern (indirect immunofluorescence assay). In the second patient, antibodies against centromeres (specific markers of systemic scleroderma) appeared at least 2 years before clinical symptoms. In the third patient, the specific markers of systemic scleroderma have been detected for 5 years. There were antibodies against centromeres (immunoblotting), high titer and the centromere pattern (indirect immunofluorescence assay). However, the patient has not developed any clinical symptoms of this disease during all time of observation. Thus, the analysis of the presented clinical cases shows that autoantibodies can be detected in patients long time before the onset of clinical manifestations of a specific autoimmune disease. In all three cases, the first immunological examination has been carried out in the background of the disease symptoms, but they were atypical. Identification of specific autoantibodies, is very important for differential diagnosis. In the absence of clinical symptoms, the presence of autoantibodies, is the reason for dynamic observation of the patients.

Blaise Pascal and the Platonic Heart

Abstract The article analyzes the concept of the heart in Blaise Pascal’s (1623–62) Pensées in the context of the Platonic tradition. Augustine (354–430) is described as the main author who mediated to Pascal Plotinus’s view of nous as the intuitive and integrative faculty, superior to discursive and conceptual reason, which can be, ultimately, identified with Pascal’s coeur. The heart in Pascal’s philosophy is seen as the response to his diagnosis of modernity as the fallen, fragmented, and polarized mode of consciousness. From that perspective, Pascal’s opposition against that fragmented and polarized consciousness of reality, divorced from the Christian Platonic holistic and contemplative vision, can also be seen in the context of his criticism of the Jesuits as the representatives of that emerging, modern worldview.

Precision Medicine in Inflammatory Bowel Disease: A Spotlight on Emerging Molecular Biomarkers.

Inflammatory bowel diseases (IBD) remain challenging in terms of understanding their causes and in terms of diagnosing, treating, and monitoring patients. Modern diagnosis combines biomarkers, imaging, and endoscopic methods. Common biomarkers like CRP and fecal calprotectin, while invaluable tools, have limitations and are not entirely specific to IBD. The limitations of existing markers and the invasiveness of endoscopic procedures highlight the need to discover and implement new markers. With an ideal biomarker, we could predict the risk of disease development, as well as the possibility of response to a particular therapy, which would be significant in elucidating the pathogenesis of the disease. Recent research in the fields of machine learning, proteomics, epigenetics, and gut microbiota provides further insight into the pathogenesis of the disease and is also revealing new biomarkers. New markers, such as BAFF, PGE-MUM, oncostatin M, microRNA panels, αvβ6 antibody, and S100A12 from stool, are increasingly being identified, with αvβ6 antibody and oncostatin M being potentially close to being presented into clinical practice. However, the specificity of certain markers still remains problematic. Furthermore, the use of expensive and less accessible technology for detecting new markers, such as microRNAs, represents a limitation for widespread use in clinical practice. Nevertheless, the need for non-invasive, comprehensive markers is becoming increasingly important regarding the complexity of treatment and overall management of IBD.

O-058 Newly identified female mutations causing oocyte maturation defect and embryo developmental arrest

Abstract Female infertility is a complex issue affecting a significant number of women. In the United States, among married women aged 15–49 years with no prior births, approximately one in five (19%) were unable to get pregnant after one year of trying. In addition, approximately one in four (26%) women in this group had difficulty getting pregnant or carrying a pregnancy to term. For women under 35 years of age, infertility is defined as a lack of success within one year, while for women aged 35 and older, it is within six months. Various factors, such as genetic, endocrine, physiological, anatomical, and immunological irregularities within the reproductive system, can affect a woman's chances of achieving pregnancy and delivering a healthy child. Among these factors, oocyte maturation is an important prerequisite for successful fertilization and subsequent embryonic development. In Medically Assisted Reproduction (MAR), the meiotic maturation of oocytes is induced by human chorionic gonadotropin (hCG) injection, which mimics the natural endogenous luteinizing hormone (LH) surge during the menstrual cycle. Although it is common for a few oocytes to remain immature despite ovarian stimulation and hCG administration, generally, immature oocytes have the competency to spontaneously mature in vitro. However, oocyte maturation is a sophisticated process involving multiple genes or protein molecules. Therefore, pathogenic variations in the genomic sequence or functional defects in any molecule that affects meiosis may lead to impaired oocyte maturation. While complete failure of all oocytes to mature in vivo is extremely rare, understanding the molecular aetiology of oocyte maturation is crucial for addressing infertility issues related to this process and improving fertility outcomes. The transition from the cleavage to the blastocyst stage often represents a significant bottleneck, with nearly 10% of fertilized eggs arrested at the cleavage stages. Developmental arrest of the preimplantation embryo is characterized by the cessation of cellular division for at least 24 h. Various factors originating from both embryonic and parental sources contribute to arrest of early stage embryo development. The genetic roots of developmental arrest were examined by considering both the parental causes of infertility and factors within the embryo. Examination revealed shared elements, regardless of the source of origin. Chromosomal abnormalities, abnormal preimplantation development, and monogenic variations have been reported to cause embryonic developmental arrests. Recently, deficiencies in oocyte maturation and embryo development have been categorized as part of the oocyte/zygote/embryo arrest (OZEMA) phenotype in the Online Mendelian Inheritance in Man (OMIM) database. A latest extensive review of monogenic causes associated with female infertility identified 23 genes with a total of 27 gene disease relationships (GDRs) for the OZEMA phenotype. Seventeen GDRs were classified as having at least moderate evidence of involvement in OZEMA, in addition to ten GDRs with less substantial evidence. Several additional genes were subsequently identified. This presentation will provide an overview of gene defects linked to the OZEMA phenotype, discuss the current status and future prospects of pre-MAR screening of females with OZEMA, and assess a novel workflow for modern genetic diagnosis to maximize the benefit of the patient.

Спадкові хвороби обміну — погляд невролога (клінічна лекція).

The article summarizes the issues of modern classification, clinical course, manifestations, diagnosis and symptomatic treatment of hereditary metabolic diseases with damage to the nervous system. Key words: hereditary diseases, aminoacid metabolism, enzymopathies, enzymopathies.

Modern Pathogenesis, Diagnosis and Management - Acute Appendicitis

Modern Pathogenesis, Diagnosis and Management - Acute Appendicitis

A CASE OF CHRONIC CALCULOUS CHOLECYSTITIS COMPLICATED BY ADENAMATOSIS

This article discusses the main points of the clinical course, the difficulties of diagnosis and a number of aspects of the mechanisms of development of chronic calculous cholecystitis. The issues of modern diagnosis of chronic calculous cholecystitis and its complications are considered.

Diagnosis and Treatment of Uveitis in Children: A Summary of the Latest Data from a 5-Year Literature Review (2018-2023).

Pediatric uveitis has a low incidence. It is very diverse in its presentation and is often the first sign of a severe systemic disease. The pediatric population poses a special therapeutic and diagnostic challenge due to the potentially adverse effects of therapeutic agents on the young body and difficult cooperation with the patient during the examination, as well as the increased risk of complications that can lead to severe disability. The most commonly diagnosed type of uveitis is non-infectious, with first-line therapy consisting of systemic corticosteroids followed by disease-modifying drugs (methotrexate (MTX), mycophenolate mofetil (MMF), and cyclosporin A (CsA)). In severe, refractory cases, biologic therapy is used. The authors reviewed the current literature on the etiology, diagnostic tools, and treatment of uveitis in the pediatric population covering the years 2018-2023, presenting current methods of modern diagnosis and treatment. The reason for writing this article was the need to update the knowledge on uveitis, driven by the increasing prevalence of autoimmune uveitis in the pediatric population. This trend presents significant challenges in diagnosing and treating the disease, as well as managing its complications. Correctly identifying the pathogenetic factor of uveitis can facilitate the diagnosis of the systemic disease underlying the ocular infection and enable the timely implementation of systemic treatment. Furthermore, the emergence of new diagnostic methods necessitates a revision and update of ophthalmic knowledge, essential for both ophthalmologists and other specialists involved in the treatment of uveitis.

Proximity extension assay in cerebrospinal fluid identifies neurofilament light chain as biomarker of neurodegeneration in sporadic cerebral amyloid angiopathy

BackgroundSporadic cerebral amyloid angiopathy (sCAA) is a disease characterised by the progressive deposition of the amyloid beta (Aβ) in the cerebral vasculature, capable of causing a variety of symptoms, from (mild) cognitive impairment, to micro- and major haemorrhagic lesions. Modern diagnosis of sCAA relies on radiological detection of late-stage hallmarks of disease, complicating early diagnosis and potential interventions in disease progression. Our goal in this study was to identify and validate novel biomarkers for sCAA.MethodsWe performed a proximity extension assay (PEA) on cerebrospinal fluid (CSF) samples of sCAA/control participants (n = 34/51). Additionally, we attempted to validate the top candidate biomarker in CSF and serum samples (n = 38/26) in a largely overlapping validation cohort, through analysis with a targeted immunoassay.ResultsThirteen proteins were differentially expressed through PEA, with top candidate NFL significantly increased in CSF of sCAA patients (p < 0.0001). Validation analyses using immunoassays revealed increased CSF and serum NFL levels in sCAA patients (both p < 0.0001) with good discrimination between sCAA and controls (AUC: 0.85; AUC: 0.79 respectively). Additionally, the CSF: serum NFL ratio was significantly elevated in sCAA (p = 0.002).DiscussionLarge-scale targeted proteomics screening of CSF of sCAA patients and controls identified thirteen biomarker candidates for sCAA. Orthogonal validation of NFL identified NFL in CSF and serum as biomarker, capable of differentiating between sCAA patients and controls.

Advanced-stage breast cancer diagnosis and its determinants in Ethiopia: a systematic review and meta-analysis

IntroductionWorldwide, breast cancer is the primary cause of illness and death. Unless early detected and treated breast cancer is a life-threatening tumor. Advanced-stage presentation is greatly linked with short survival time and increased mortality rates. In Ethiopia nationally summarized evidence on the level of advanced-stage breast cancer diagnosis is scarce. Therefore, this systematic review and meta-analysis aimed to determine the pooled prevalence of advanced-stage breast cancer diagnosis and its determinants in Ethiopia.MethodBy following PRISMA guidelines, a systematic review and meta-analysis were carried out. To include relevant publications, a broad literature search was conducted in the African Online Journal, PubMed, Google Scholar, and Embase which are published until last search date; June 15, 2023. To prevent further duplication this review was registered in PROSPERO database with ID no of CRD42023435096. To determine the pooled prevalence, a weighted inverse variance random effect model was applied. I2 statistics and the Cochrane Q-test were computed to determine heterogeneity. To evaluate publication bias, a funnel plot, and Egger’s regression test were used.ResultA total of 924 articles were sought and finally 20 articles were included in this review. The pooled prevalence of advanced-stage breast cancer diagnosis in Ethiopia was 72.56% (95%CI; 68.46-76.65%). Use of traditional medicine as first choice (AOR = 1.32, 95% CI: (1.13–1.55)), delay of > 3 months in seeking care (AOR = 1.24, 95% CI: (1.09–1.41)), diagnosis or health system delay of > 2 months (AOR = 1.27, 95% CI: (1.11–1.46)), rural residence (AOR = 2.04, 95% CI: (1.42 − 2.92)), and chief complaint of a painless breast lump (AOR = 2.67, 95% CI: (1.76–4.06)) were significantly associated to advanced-stage diagnosis.ConclusionIn Ethiopia, more than two-thirds of breast cancer cases are diagnosed at an advanced stage. Use of traditional medicine before diagnostic confirmation, delay in seeking care, health system delay, rural residence, and chief complaint of painless breast lump were positively associated with an advanced-stage diagnosis. Policymakers and program designers give great focus to those delays so as to seek and access modern diagnosis and treatment as early as possible specifically focusing on those who are rurally residing.

Antiquity and Modernity at a Standstill—Interpretating Walter Benjamin’s Allegorical Image and Dialectical Image Through Charles Baudelaire

Abstract In the preliminary schematization of the Arcades Project, Walter Benjamin conceived the title “Antiquity and Modernity” for the second part of the book. In his unpublished paper “Introduction to Charles Baudelaire: A Lyric Poet in the Era of High Capitalism,” Michael Jennings asserts that the second part of the book on Baudelaire develops, as a formal element of allegorical perception, the “dissolve” through which antiquity comes to light in modernity and modernity in antiquity. In Baudelaire’s terms, nothing in his own century comes closer to the task of the hero of antiquity than the task of giving form to modernity. This paper investigates how Walter Benjamin, by interpreting Baudelaire’s two poems—“The Swan” and “To a Woman Passing By”—processed a symptomatic diagnosis of modernity and attempted different methods of salvation for modernity. In the first attempt, Benjamin resorts to the allegorical images of ancient myths to break through the projection of the linear chain of historical progress, but he suffers from a sense of incurable melancholy and nostalgia due to the irretrievable ancient grandeur in modernity. In the second attempt, he replaces these melancholic allegories with dialectic images in the hope of awakening the masses from the Capitalist phantasmagoria. Nevertheless, from a fundamentalist Marxist point of view, Walter Benjamin’s mystification of Marxist dialectics and his revised Marxism focus mainly on the transformation of consciousness. It is thus arguable that Benjamin distorted and reversed the hierarchy of superstructure and economic base in the orthodox Marxist historical materialism. More regrettably, Benjamin’s dialectic image pales into insignificance due to its confinement within the transformation of mass consciousness and its renouncement of revolution in the economic and production realms.

Мультидисциплинарный подход к диагностике, терапии и профилактике нарушений развития у детей в первые годы жизни

&lt;p style="text-align: justify;"&gt;&lt;strong&gt;Objectives.&lt;/strong&gt; The early detection of deviations in the child development is an important task &amp;mdash; both in medical and psychological and pedagogical practice. As a result of the variety of specialized approaches to the development of children in the first years of life, a general idea of the health and development of a young child is often obscured by numerous private assessments. The task of developing a unified synthetic approach towards understanding and as- sessing development by specialists of different profiles seems very difficult.&lt;/p&gt; &lt;p style="text-align: justify;"&gt;&lt;strong&gt;Methods.&amp;nbsp;&lt;/strong&gt;A brief comparative-historical analysis was performed of trends in the change of modern approaches to- wards the diagnosis, therapy, and prevention of developmental disorders in children in the first years of life.&lt;/p&gt; &lt;p style="text-align: justify;"&gt;&lt;strong&gt;Results.&amp;nbsp;&lt;/strong&gt;Arguments are made for the predominant influence of multidisciplinarity in theoretical thinking and clinical practice. At the same time, there has been a tendency towards increased demand on the part of specialists for interdisciplinarity when constructing an overall picture of development, the state of mental health and diseases in a child. The shift in priorities when assessing the development of children by modern researchers is shown &amp;mdash; from the levels of formation of cognitive, motor, speech or everyday skills towards the emotional and social levels. There has been a growing understanding among specialists of various profiles of the fundamental importance of relationships with close adults for the development and mental health of an infant and young child. A brief review of the articles included in the thematic issue is made, convincingly illustrating interdisciplinarity and multidisciplinarity in modern diagnosis, therapy, correction and the prevention of childhood developmental disorders.&lt;/p&gt; &lt;p style="text-align: justify;"&gt;&lt;strong&gt;Conclusions.&lt;/strong&gt; The situation of the insufficient provision of Russian specialists working with children in the first years of life with psychodiagnostic tools and scientifically grounded correctional practices remains, the attention of science organizers in the field of medicine, psychology and pedagogy to this has been drawn.&lt;/p&gt;

Ефективна інтегрована програма неонатального скринінгу як сучасний напрям діагностики спадкових хвороб обміну речовин у дітей (огляд літератури)

Today’s challenges contribute to technological progress in various fields of medicine. The introduction of extended neonatal screening (ENS) for hereditary metabolic diseases (HMDs) became the basis for the revolution of modern diagnostic technologies. Tandem mass spectrometry (TMS) technology has become a real breakthrough in the laboratory diagnosis of a number of HMDs, with the help of which it is possible to quickly determine the concentrations of dozens of different metabolites in a minimum amount of biological material at the same time. Purpose - to summarize the literature data on the current state, progress, and prospects of extended neonatal screening for hereditary metabolic diseases. We retrospectively analyzed the data of modern medical literature on ENS programs and investigated the issues of genomics and metabolomics in the practice of screening for HMDs according to scientometric databases: GoogleScholar, NCBI Pubmed, Cochranelibrary. The historical aspects of the formation and application of such a method of modern laboratory diagnosis of HMDs as tandem mass spectrometry are considered separately. Data on the role of genomics and metabolomics in the practice of neonatal screening for inborn errors of metabolism are also presented. Since the identification of patients by performing ENS provides an opportunity to expand knowledge about the genesis, frequency, genotype/phenotype correlation, and thus preliminary diagnosis and treatment benefit both the health care system and society. Thanks to exome and genome sequencing technologies, detection of a wider range of diseases has become available. No conflict of interests was declared by the author.

Assessment of acceptance of Ayurveda Visual Science Medications: Revealing unmet needs

Ayurvedic Visual Science (AVS) has served the nation since Rajashri Nimi, the King of Videha, well documented in Susruta Samhita in 800-600BC. Vision is the most essential sensory function of humans. Loss of vision is considered the highest disability in the general population. Still the unmet needs in ophthalmic research include glaucoma, retinal dystrophies, diabetic retinopathy (DR), retinitis pigmentation (RP), dry eye, progressive myopia, macular degeneration, and corneal diseases. There is no solution of many disorders in spite of the great invention in modern diagnosis and treatment. AVS has progressed tremendously in treating diabetic retinopathy, macular degeneration, retinitis pigmentosa and other incurable diseases. The Ayurvedic ocular medication comprises oral medication, Panchakarma and Kriya kalpa(Ocular procedures) to treat eye diseases holistically after factoring in the entire health profile of patients. A small cross-sectional study was conducted at Sri Sri Ayurveda Medical College, Bangalore, and 885 patients were included, nearly 02% of the total OPD strength of Shalya &amp; Shalakya OPD. Maximum patients are males between the ages of 51-60 years. The most accepted group for Ayurveda Ocular treatment suffered from progressive myopia (26%), followed by 24% of patients with diabetic retinopathy and 13% with chronic conjunctivitis and Age-related macular degeneration. A consensus roadmap from AYUSH should address the unmet need through Ayurveda visual science supported by tangible clinical outcomes.