scholarly journals Transient hypogammaglobulinemia of infancy

2014 ◽  
Vol 01 (01) ◽  
pp. 1-9
Author(s):  
Adi Ovadia ◽  
Ilan Dalal
Keyword(s):  
Molecular Basis ◽  
Clinical Manifestations ◽  
Significant Progress ◽  
Distinct Entity ◽  
Definition Of

Transient hypogammaglobulinemia of infancy (THI) was first described as a distinct entity by Gitlin and Janeway in 1956. Although THI has been recognized for many years, and despite significant progress in understanding the molecular basis and identifying the genes involved in the pathogenesis of many other forms of humoral immunodeficiencies, not much is known about this specific entity. This article summarizes the definition of THI, possible etiologies, clinical manifestations, treatment, and prognosis.

scholarly journals Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

2018 ◽  
Vol 56 (8) ◽  
pp. 521-525 ◽  
Author(s):  
Agostina Stradella ◽  
Jesús del Valle ◽  
Paula Rofes ◽  
Lídia Feliubadaló ◽  
Èlia Grau Garces ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Gene Panel ◽  
Cancer Genes ◽  
Pathogenic Mutations ◽  
Predisposing Genes ◽  
Definition Of ◽  
Gene Panels

ImportanceGenetic testing of hereditary cancer using comprehensive gene panels can identify patients with more than one pathogenic mutation in high and/or moderate-risk-associated cancer genes. This phenomenon is known as multilocus inherited neoplasia alleles syndrome (MINAS), which has been potentially linked to more severe clinical manifestations.ObjectiveTo determine the prevalence and clinical features of MINAS in a large cohort of adult patients with hereditary cancer homogeneously tested with the same gene panel.Patients and methodsA cohort of 1023 unrelated patients with suspicion of hereditary cancer was screened using a validated panel including up to 135 genes associated with hereditary cancer and phakomatoses.ResultsThirteen (1.37%) patients harbouring two pathogenic mutations in dominant cancer-predisposing genes were identified, representing 5.7% (13/226) of patients with pathogenic mutations. Most (10/13) of these cases presented clinical manifestations associated with only one of the mutations identified. One case showed mutations in MEN1 and MLH1 and developed tumours associated with both cancer syndromes. Interestingly, three of the double mutants had a young age of onset or severe breast cancer phenotype and carried mutations in moderate to low-risk DNA damage repair-associated genes; two of them presented biallelic inactivation of CHEK2. We included these two patients for the sake of their clinical interest although we are aware that they do not exactly fulfil the definition of MINAS since both mutations are in the same gene.Conclusions and relevanceGenetic analysis of a broad cancer gene panel identified the largest series of patients with MINAS described in a single study. Overall, our data do not support the existence of more severe manifestations in double mutants at the time of diagnosis although they do confirm previous evidence of severe phenotype in biallelic CHEK2 and other DNA repair cancer-predisposing genes.

scholarly journals The role of membrane-destabilizing processes in the pathogenesis and clinical manifestations of perinatal encephalopathy in children

2001 ◽  
Vol 82 (2) ◽  
pp. 137-138
Author(s):  
E. V. Levitina ◽  
G. A. Ivanichev ◽  
M. M. Minnibaev
Keyword(s):  
Nervous System ◽  
Early Diagnosis ◽  
Clinical Manifestations ◽  
Perinatal Period ◽  
Diagnosis And Treatment ◽  
Definition Of ◽  
Methods Of Treatment ◽  
All Diseases ◽  
Made In

2/3 of all diseases of the nervous system in children begin to develop in the perinatal period. In recent decades, great strides have been made in perinatal neurology in the development of criteria for early diagnosis and treatment of diseases. Further study of the biochemical foundations of perinatal lesions of the nervous system with the definition of objective markers of the severity of the lesion will reveal new links in its pathogenesis and develop more effective methods of treatment.

scholarly journals Migraine and Diet

Nutrients ◽  
2020 ◽  
Vol 12 (6) ◽  
pp. 1658 ◽  
Author(s):  
Parisa Gazerani
Keyword(s):  
Clinical Manifestations ◽  
Dietary Factors ◽  
Current Status ◽  
Future Perspective ◽  
Dietary Recommendations ◽  
Dietary Interventions ◽  
Ketogenic Diets ◽  
Underlying Mechanisms ◽  
Definition Of ◽  
Future Work

Migraine is characterized by recurrent attacks of disabling headaches, often accompanied by sensory and motor disturbances. Clinical manifestations of migraine are influenced by dietary behaviors and dietary elements. Several dietary triggers for migraine have been identified, leading to the definition of strategies such as elimination diets, ketogenic diets, and comprehensive diets, mainly to help prevent migraine. Although inconsistency is present in the literature and no consensus exists, the available data are promising in supporting beneficial dietary interventions for some migraine patients. Several factors influence the net outcome, including age, sex, genetics, and environmental factors. Advancement in understanding the underlying mechanisms of migraine pathogenesis and how dietary factors can interfere with those mechanisms has encouraged investigators to consider diet as a disease-modifying agent, which may also interfere with the gut–brain axis or the epigenetics of migraine. Future work holds potential for phenotyping migraine patients and offering personalized recommendations in line with biopsychosocial models for the management of migraine. Diet, as an important element of lifestyle, is a modifiable aspect that needs further attention. Well-designed, systematic, and mechanism-driven dietary research is needed to provide evidence-based dietary recommendations specific to migraine. This narrative review aims to present the current status and future perspective on diet and migraine, in order to stimulate further research and awareness.

scholarly journals New ideas about the pathogenesis of osteoarthritis, the role of metabolic disorders

2019 ◽  
Vol 16 (2) ◽  
pp. 75-82 ◽  
Author(s):  
Lyudmila I. Alekseeva
Keyword(s):  
Metabolic Syndrome ◽  
Musculoskeletal Diseases ◽  
Clinical Manifestations ◽  
Pain Syndrome ◽  
Functional Condition ◽  
Current Data ◽  
Rapid Progression ◽  
Open Label ◽  
The Metabolic Syndrome ◽  
Definition Of

The article highlights the current data on the prevalence and pathogenesis of osteoarthritis (OA), presents a new definition of the disease, research results on the heterogeneity of OA, its relationship with obesity and metabolic syndrome. Obesity is one of the main factors in the development and more rapid progression of OA, and the presence of metabolic syndrome not only increases the risk of developing the disease, but also determines its severity. It is noted that with an increase of the components of the metabolic syndrome, the severity of OA increases. Therefore, hyperuricemia is associated with the presence of osteophytes and the progression of osteoarthritis, hyperglycemia - with the severity of the clinical manifestations and radiological progression. Much attention is given to the treatment of patients with OA and The European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) recommendations for the treatment of knee joints OA updated in 2019. In which for the first time a symptomatic slow-acting drugs for osteoarthritis (SYSADOAs) are assigned as the basis in the treatment of OA. The data on the effectiveness of some drugs from this group are presented. The glycosaminoglycan-peptide complex, which contains pharmacologically high-quality chondroitin sulfate when administered intramuscularly, has a significant effect on the symptoms, and in case of continued use, slows the progression of OA. The multicenter open-label prospective study of diacerein in patients with knee-joint OA combined with metabolic syndrome showed that during therapy pain syndrome and stiffness are reduced, and functional condition of the joints and quality of life of patients improves quickly and significantly. In addition, the positive effect of the drug on some components of the metabolic syndrome was demonstrated: a significant decrease in body mass index, low density lipoproteins, triglycerides, glucose and uric acid.

scholarly journals SUDDEN CARDIAC DEATH IN PATIENTS WITH DILATED CARDIOMYOPATHY

2014 ◽  
Vol 5 (4) ◽  
pp. 41-48
Author(s):  
D V Duplyakov ◽  
I V Kondratyeva ◽  
S V Garkina
Keyword(s):  
High Risk ◽  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
Dilated Cardiomyopathy ◽  
Cardiac Death ◽  
Clinical Manifestations ◽  
Scientific Data ◽  
National Guidelines ◽  
Causative Factors ◽  
Definition Of

The review discusses accumulated to date scientific data on dilated cardiomyopathy: causative factors, clinical manifestations, sudden cardiac death in patients with the disease and its risk-stratification in the light of National guidelines on the definition of risk and prevention of sudden cardiac death (2012). A case of a patient with dilated cardiomyopathy and high-risk of sudden cardiac death is presented.

scholarly journals Flu pandemics: homeopathic prophylaxis and definition of the epidemic genius

2021 ◽  
Vol 8 (28) ◽  
pp. 100-109
Author(s):  
Renan Marino
Keyword(s):  
Public Health ◽  
Clinical Manifestations ◽  
Response To Treatment ◽  
Viral Genetics ◽  
Clinical Evolution ◽  
Common Etiology ◽  
Definition Of ◽  
Do So

Recent studies on viral genetics establish swine-H1N1 – responsible for the ongoing pandemics – as a remainder or continuation of the agent causing the flu epidemics of 1918. This study aimed at analyzing whether this common etiology also result in significant correlations of clinical manifestations. To do so, data were collected to compare the clinical evolution of cases in the 1918 and 2009 epidemics.  This historical revision was the ground for evaluating the response to treatment including homeopathy in the former epidemics. It is discussed the convenience of including homeopathic prophylaxis grounded on the diagnosis of the epidemic genius among public health actions.

scholarly journals Genomic and Molecular Maps of Stemness and Malignant Regulatory Signatures

2020 ◽  
Author(s):  
Gennadi Glinsky
Keyword(s):  
Dna Sequences ◽  
Regulatory Networks ◽  
Pathological Condition ◽  
Clinical Manifestations ◽  
Diagnostic Tools ◽  
Regulatory Sequences ◽  
Related Family ◽  
Increased Risk ◽  
Organ Specific ◽  
Definition Of

<p>Repetitive DNA sequences (repeats) colonized two-third of human genomes and a majority of repeats comprised of transposable genetic elements (TE). Evolutionary distinct categories of TE represent nucleic acid sequences that are repeatedly copied from and pasted into chromosomes at multiple genomic locations and acquired a multitude of regulatory functions. Here, genomics-guided maps of stemness regulatory signatures were drawn to dissect the contribution of TE to clinical manifestations of malignant phenotypes of human cancers. From patients’ and physicians’ perspectives, the clinical definition of a tumor’s malignant phenotype could be restricted to the early diagnosis of sub-types of malignancies with the increased risk of existing therapy failure and high likelihood of death from cancer. It is the viewpoint from which the understanding of stemness and malignant regulatory signatures is considered in this contribution. Analyses from this perspective of experimental and clinical observations revealed the pivotal role of human stem cell-associated retroviral sequences (SCARS) in the origin and pathophysiology of clinically-lethal malignancies. SCARS were defined as the evolutionary- and biologically-related family of genomic regulatory sequences, the principal physiological function of which is to create and maintain the stemness phenotype during human preimplantation embryogenesis. For cell differentiation to occur, SCARS expression must be silenced and SCARS activity remains repressed in most terminally-differentiated human cells performing specialized functions in the human body. De-repression and sustained activity of SCARS results in various differentiation-defective phenotypes. One of the most prominent tissue- and organ-specific clinical manifestations of sustained SCARS activities is diagnosed as a pathological condition defined by a consensus of morphological, molecular, and genetic examinations as the malignant growth. Contemporary evidence are acquired, analyzed, and reported defining both reliable diagnostic tools and druggable molecular targets readily amenable for diagnosis and efficient therapeutic management of clinically-lethal malignancies: detection of high-fidelity molecular signals of continuing SCARS activities in association with genomic regulatory networks of thousands’ functionally-active enhancers triggering engagements of down-stream phenotype-altering genetic loci. </p>

scholarly journals Primary Hyperaldosteronism: When to Suspect It and How to Confirm Its Diagnosis

Endocrines ◽  
2022 ◽  
Vol 3 (1) ◽  
pp. 29-42
Author(s):  
Jorge Gabriel Ruiz-Sánchez ◽  
Mario Pazos Guerra ◽  
Diego Meneses ◽  
Isabelle Runkle
Keyword(s):  
Current Knowledge ◽  
Challenge Test ◽  
Clinical Manifestations ◽  
Adrenal Incidentaloma ◽  
Pressure Control ◽  
Primary Hyperaldosteronism ◽  
Degree Relative ◽  
Salt Loading ◽  
Cardiovascular Morbidity And Mortality ◽  
Definition Of

The definition of primary hyperaldosteronism (PA) has shifted, as progress has been made in understanding the disease. PA can be produced by unilateral or bilateral cortical adrenal hyperproduction of aldosterone, due to hyperplasia, aldosterone-secreting cell clusters, aldosterone-producing macro or micro adenoma/s, and combinations of the above, or by an aldosterone-producing carcinoma. PA is a highly prevalent disease, affecting close to 10% of the hypertensive population. However, PA is clearly underdiagnosed. The purpose of this review is to address current knowledge of PA’s clinical manifestations, as well as current methods of diagnosis. PA is associated with a higher cardiovascular morbidity and mortality than essential hypertension with similar blood pressure control. Young hypertensive patients, those with a first-degree relative with PA or ictus, and/or those with apnea/hypopnea syndrome, moderate/severe/resistant hypertension, adrenal incidentaloma, and/or hypokalemia should be screened for PA. PA can induce atrial fibrillation (AF), and those patients should also be screened for PA. We propose the use of the Captopril challenge test (CCT), oral salt loading, or intravenous salt loading for PA diagnosis, given their availability in the majority of hospital centers. CCT could be first-line, since it is safe and easy to perform.

scholarly journals Diagnosis and Treatment of Early Chronic Obstructive Lung Disease (COPD)

2020 ◽  
Vol 9 (11) ◽  
pp. 3426
Author(s):  
Joon Young Choi ◽  
Chin Kook Rhee
Keyword(s):  
Lung Disease ◽  
Obstructive Lung Disease ◽  
Comprehensive Evaluation ◽  
Clinical Manifestations ◽  
Chronic Obstructive Lung Disease ◽  
Chronic Obstructive ◽  
Recent Effort ◽  
Lung Function Decline ◽  
Definition Of ◽  
Irreversible Airway Obstruction

Chronic obstructive lung disease (COPD) is responsible for substantial rates of mortality and economic burden, and is one of the most important public-health concerns. As the disease characteristics include irreversible airway obstruction and progressive lung function decline, there has been a great deal of interest in detection at the early stages of COPD during the “at risk” or undiagnosed preclinical stage to prevent the disease from progressing to the overt stage. Previous studies have used various definitions of early COPD, and the term mild COPD has also often been used. There has been a great deal of recent effort to establish a definition of early COPD, but comprehensive evaluation is still required, including identification of risk factors, various physiological and radiological tests, and clinical manifestations for diagnosis of early COPD, considering the heterogeneity of the disease. The treatment of early COPD should be considered from the perspective of prevention of disease progression and management of clinical deterioration. There has been a lack of studies on this topic as the definition of early COPD has been proposed only recently, and therefore further clinical studies are needed.

scholarly journals The $$^{229}$$Th isomer: prospects for a nuclear optical clock

2020 ◽  
Vol 56 (11) ◽  
Author(s):  
Lars von der Wense ◽  
Benedict Seiferle
Keyword(s):  
Frequency Standard ◽  
Optical Clock ◽  
Current Status ◽  
Theoretical Studies ◽  
Significant Progress ◽  
Nuclear Excitation ◽  
Nuclear Frequency Standard ◽  
Definition Of ◽  
Experimental And Theoretical Studies ◽  
Far Future

AbstractThe proposal for the development of a nuclear optical clock has triggered a multitude of experimental and theoretical studies. In particular the prediction of an unprecedented systematic frequency uncertainty of about $$10^{-19}$$ 10 - 19 has rendered a nuclear clock an interesting tool for many applications, potentially even for a re-definition of the second. The focus of the corresponding research is a nuclear transition of the $$^{229}$$ 229 Th nucleus, which possesses a uniquely low nuclear excitation energy of only $$8.12\pm 0.11$$ 8.12 ± 0.11 eV ($$152.7\pm 2.1$$ 152.7 ± 2.1  nm). This energy is sufficiently low to allow for nuclear laser spectroscopy, an inherent requirement for a nuclear clock. Recently, some significant progress toward the development of a nuclear frequency standard has been made and by today there is no doubt that a nuclear clock will become reality, most likely not even in the too far future. Here we present a comprehensive review of the current status of nuclear clock development with the objective of providing a rather complete list of literature related to the topic, which could serve as a reference for future investigations.

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