scholarly journals Current Approaches in Management of Patients with Hypophosphatasia

2021 ◽  
Vol 17 (6) ◽  
pp. 519-528
Author(s):  
Alexander A. Baranov ◽  
Leyla S. Namazova-Baranova ◽  
Sergey I. Kutsev ◽  
Tea V. Margieva ◽  
Nato D. Vashakmadze ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Genetic Disease ◽  
Pediatric Patients ◽  
Clinical Guideline ◽  
Treatment Guidelines ◽  
Differential Diagnostics ◽  
Evidence Based ◽  
Specific Alkaline Phosphatase ◽  
Enzyme Replacement ◽  
Based Medicine

he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene. The article covers all the features of epidemiology, etiology and pathogenesis, detailed stages of differential diagnostics. Treatment guidelines for pediatric patients are provided, they are based on the principles of evidence-based medicine. Special attention was given to the only effective method of hypophosphatasia management —enzyme replacement therapy (ERT). This material is the clinical guideline draft for the management of patients with hypophosphatasia prepared by the Union of Pediatricians of Russia and the Association of Medical Geneticists.

scholarly journals Hypophosphatasia: A Unique Disorder of Bone Mineralization

2021 ◽  
Vol 22 (9) ◽  
pp. 4303
Author(s):  
Juan Miguel Villa-Suárez ◽  
Cristina García-Fontana ◽  
Francisco Andújar-Vera ◽  
Sheila González-Salvatierra ◽  
Tomás de Haro-Muñoz ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Genetic Disease ◽  
Therapeutic Strategy ◽  
Pediatric Patients ◽  
Bone Mineralization ◽  
Clinical Manifestations ◽  
Allelic Heterogeneity ◽  
Specific Enzyme ◽  
Inorganic Pyrophosphate ◽  
Enzyme Replacement

Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5′-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.

scholarly journals Breast Cancer Research to Support Evidence-Based Medicine in Nigeria: A Review of the Literature

2021 ◽  
pp. 384-390
Author(s):  
Omolara A. Fatiregun ◽  
Temiloluwa Oluokun ◽  
Nwamaka N. Lasebikan ◽  
Emmanuella Nwachukwu ◽  
Abiola A. Ibraheem ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Research ◽  
Randomized Controlled Trials ◽  
Evidence Based Medicine ◽  
Treatment Guidelines ◽  
Breast Cancer Research ◽  
Controlled Trials ◽  
Evidence Based ◽  
Randomized Controlled ◽  
Based Medicine

PURPOSE Breast cancer is the most common malignancy in women worldwide. In Nigeria, it accounts for 22.7% of all new cancer cases among women. Evidence-based medicine (EBM) entails using the results from healthcare research to enhance the clinical decision-making process and develop evidence-based treatment guidelines. Level 1 and 2 studies, such as randomized controlled trials, meta-analyses, and systematic reviews of randomized controlled trials, yield more robust types of evidence. This study reviewed the levels of evidence of breast cancer publications in Nigeria. METHODS We conducted an electronic literature search of all studies published on breast cancer in Nigeria from January 1961 to August 2019. We reviewed all the articles found under the search term “Breast Cancer in Nigeria” on medical databases. RESULTS Our search identified 2,242 publications. One thousand two hundred fifty duplicates were removed, and 520 were excluded. A total of 472 articles were considered eligible for this review. Most of these articles were case series or reports (30.7%), qualitative studies (15.7%), followed by cross-sectional studies (13.3%), laboratory studies (12.9%), case-control studies (6.1%), case reports (7%), and cohort (5.7%). CONCLUSION Breast cancer research in Nigeria is yet to produce much evidence of the types considered to best support EBM. The scarcity of data hampers the implementation of EBM in Nigeria. Currently, most treatment guidelines are adapted from those developed in other countries, despite genetic differences among populations and different environmental influencing factors.

The process of producing a “NICE” guideline

2010 ◽  
Vol 19 (3) ◽  
pp. 211-213 ◽  
Author(s):  
David Goldberg
Keyword(s):  
United Kingdom ◽  
Evidence Based Medicine ◽  
Clinical Guideline ◽  
Clinical Excellence ◽  
The Other ◽  
Evidence Based ◽  
Nice Guideline ◽  
The United Kingdom ◽  
The One ◽  
Based Medicine

SUMMARYThis paper describes the process of preparing a Clinical Guideline for “NICE”, the National Institute for Health and Clinical Excellence in the United Kingdom. The procedure involves the group appointed to prepare the guideline relating to the various “stakeholders” who have an interest on the one hand, and satisfying the fairly demanding standards set by NICE on the other. The strengths and limitations of the approach based on evidence based medicine are discussed.

scholarly journals Principles of drug therapy for acute bacterial rhinosinusitis: from evidence-based medicine to practice

2018 ◽  
Vol 26 (1) ◽  
pp. 106-116
Author(s):  
D. S. Pshennikov ◽  
I. B. Angotoeva
Keyword(s):  
Evidence Based Medicine ◽  
Therapeutic Approach ◽  
Bacterial Resistance ◽  
Diagnostic Errors ◽  
High Rate ◽  
Differential Diagnostics ◽  
Evidence Based ◽  
Wide Range ◽  
Acute Bacterial Rhinosinusitis ◽  
Based Medicine

The problem of treatment of acute rhinosinusitis (ARS) is extremely important due to high prevalence of the disease. According to statistical data the ARS affects from 6% to 15% of population and does not show any tendency to reduction. These figures are associated with a high rate of acute respiratory viral infection (ARVI) which directly leads to rhinosinusitis. But, however, despite the fact that practically every individual experiences from 2 to 5 episodes of ARVI every year, only 0.5-2% of them are complicated with acute bacterial rhinosinusitis (ABRS). Despite this low percentage of bacterial infection, in 80% of cases systemic antibacterial treatment is prescribed which further worsens the problem of bacterial resistance in the world. The main difficulty in determination of therapeutic approach to ABRS is associated with absence of reliable methods of differential diagnostics of viral and bacterial etiology of the disease. Because of low sensitivity and specificity, none of additional visualization methods of ABRS diagnosing such as radiography, ultrasonography, computed tomography, can be used as a routine laboratory method. Thus, the main method of differential diagnostics of viral and bacterial ARS remains analysis of clinical data which leads to a high rate of diagnostic errors and to polypragmacy. Nowadays there exists a wide range of medications for treatment of ABRS in the pharmacological market. The choice of therapeutic approach by our international colleagues is mostly based on the requirements of evidence-based medicine. Russian scientists, besides evidence-based medicine principles take into account the pathogenesis of the disease. In this article different groups of medications for treatment of ABRS are presented. Some of them do not meet the requirements of evidence-based medicine so far, but they are included to the Russian standards and are used for management of ABRS.

European psychiatric treatment guidelines: is the glass half full or half empty?

2005 ◽  
Vol 20 (8) ◽  
pp. 554-558 ◽  
Author(s):  
M. Stiegler ◽  
C. Rummel ◽  
K. Wahlbeck ◽  
W. Kissling ◽  
S. Leucht
Keyword(s):  
Development Process ◽  
Treatment Guidelines ◽  
Psychiatric Treatment ◽  
Evidence Based ◽  
Basic Principles ◽  
Additional Item ◽  
Agree Instrument ◽  
The Mean ◽  
Based Medicine

AbstractPurposeWe assessed the quality of European treatment guidelines in the field of mental health that have been produced by national psychiatric associations. The main focus was the question of whether the development process of the guidelines followed basic principles of evidence-based medicine.MethodsSixty-one European clinical practice guidelines from 14 countries, published between 1998 and 2003, were assessed using the ‘Appraisal of Guidelines for Research and Evaluation (AGREE) Instrument’. The domain score was calculated for each of the six domains of the AGREE instrument. The seven items of the domain “rigor of development” and one additional item concerning national particularities were assessed in detail.ResultsThe mean scores in the six domains were rather low, although the quality varied among the different guidelines. The highest mean score was obtained in the domain clarity and presentation (70.8% S.D. 23.5), the lowest on editorial independence (19.7% S.D. 29.3). The recommendations of about half of the assessed guidelines could be considered to be evidence-based.ConclusionThe assessed guidelines showed a broad range of quality: some producers attached importance to an evidence-based development process; but in spite of this, a large number of guidelines were only of middling quality. As national particularities are only rarely mentioned and the development process of guidelines is complex, an international collaboration that aims toward the production of shareable guidelines might be promising.

scholarly journals How to Build the Plane While Flying: VTE/PE Thromboprophylaxis Clinical Guidelines for COVID-19 Patients

2020 ◽  
Vol 14 (3) ◽  
pp. 391-405 ◽  
Author(s):  
Alessandro Costa ◽  
Eric S. Weinstein ◽  
D. Ruby Sahoo ◽  
Stanley C. Thompson ◽  
Roberto Faccincani ◽  
...  
Keyword(s):  
Clinical Guidelines ◽  
Clinical Guideline ◽  
Treatment Guidelines ◽  
Meta Analysis ◽  
Evidence Based ◽  
Scientific Process ◽  
Randomized Controlled ◽  
Practice Of Medicine ◽  
Novel Coronavirus ◽  
Time Required

AbstractOver the years, the practice of medicine has evolved from authority-based to experience-based to evidence-based with the introduction of the scientific process, clinical trials, and outcomes-based data analysis (Tebala GD. Int J Med Sci. 2018;15(12):1397-1405). The time required to perform the necessary randomized controlled trials, a systematic literature review, and meta-analysis of these trials to then create, accept, promulgate, and educate the practicing clinicians to use the evidence-based clinical guidelines is typically measured in years. When the severe acute respiratory syndrome novel coronavirus-2 (SARS-nCoV-2) pandemic commenced in Wuhan, China at the end of 2019, there were few available clinical guidelines to deploy, let alone adapt and adopt to treat the surge of coronavirus disease 2019 (COVID-19) patients. The aim of this study is to first explain how clinical guidelines, on which bedside clinicians have grown accustomed, can be created in the midst of a pandemic, with an evolving scientific understanding of the pathophysiology of the hypercoagulable state. The second is to adapt and adopt current venous thromboembolism diagnostic and treatment guidelines, while relying on the limited available observational reporting of COVID-19 patients to create a comprehensive clinical guideline to treat COVID-19 patients.

scholarly journals Primary hyperparathyroidism: the clinical picture, diagnostics, differential diagnostics, and methods of treatment

2017 ◽  
Vol 62 (6) ◽  
pp. 40-77 ◽  
Author(s):  
Ivan I. Dedov ◽  
Galina A. Melnichenko ◽  
Natalia G. Mokrysheva ◽  
Liudmila Y. Rozhinskaya ◽  
Nikolay S. Kusnezov ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Manifestations ◽  
Pathological Process ◽  
Differential Diagnostics ◽  
Evidence Based ◽  
Management Concept ◽  
Set Up ◽  
International Experts ◽  
Based Medicine ◽  
Methods Of Treatment

Primary hyperparathyroidism (PHT) is the third most common endocrine disorder in men and women after diabetes mellitus and thyroid disease and one of the most frequent causes of osteoporosis and fractures among the secondary osteopathy. PHT refers to socially significant problems in connection with involvement in the pathological process of the majority of organs and system In recent years, the conception of epidemiology, clinic and tactics of management of patients with PHT has changed due to significant increase of morbidity at the expense of identification of mild forms of disease. The modern management concept tactics depends on clinical manifestations. Bearing in mind the importance of the problem under consideration, the working group was set up for the development of federal recommendations on the treatment of PHT based on the principles of evidence-based medicine. The experience accumulated by the domestic and international experts was summarized in the federal clinical guidelines on PHT.

scholarly journals Subacute cough in preschool children: differential diagnostics and differentiated therapy under ambulatory practice

2021 ◽  
pp. 46-55
Author(s):  
S.A. Mokiya–Serbina ◽  
◽  
T.V. Litvinova ◽  
N.I. Zabolotnyaya ◽  
◽  
...  
Keyword(s):  
Preschool Children ◽  
Respiratory Tract ◽  
Evidence Based Medicine ◽  
Respiratory Infections ◽  
Differential Diagnostics ◽  
Evidence Based ◽  
Acute Respiratory Infections ◽  
Upper Respiratory Tract ◽  
Outpatient Practice ◽  
Based Medicine

The multifactorial nature of subacute cough, combined with the anatomical and physiological characteristics of preschool children, the impossibility of their full examination in outpatient practice, complicates its diagnosis. An algorithm for the differential diagnosis of acute respiratory infections accompanied by subacute cough in preschool children has been developed, it can contribute to the early identification of its causes and targeted treatment of the disease that caused the cough. A sequence of diagnostic measures is proposed, it includes anamnesis of life and diseases with a list of key questions that should be asked when collecting anamnesis in children with prolonged cough; objective examination of the child; determination of the tactics of further management (inpatient or outpatient); the choice of therapy that is comparable to the intended diagnosis; and evaluation of ongoing therapy. The emphasis is made on the importance of a full-fledged collection of anamnesis, taking into account the data of the time and conditions of the disease, and clinical data for making a presumptive diagnosis in an outpatient practice. It is recommended to carry out trial therapy if the diagnosis is difficult. The article presents modern approaches to the diagnosis of bronchial asthma in children with recurrent virus-induced vising. The modern approaches to the diagnosis and treatment of acute respiratory infections of the upper and lower respiratory tract are outlined in accordance with the principles of evidence-based medicine. It is noted that the most effective methods of treating cough are etiological and pathogenetic approaches, which consist in eliminating or weakening the action of factors that cause cough. It is emphasized that if treatment is impossible or insufficient, symptomatic cough therapy should be carried out. The main directions of symptomatic treatment of cough have been substantiated, which include measures to improve the drainage function of the lungs and restore adequate mucociliary clearance. The expediency of using ambroxol and acetylcysteine preparations was confirmed. Attention is also paid to the use of centrally acting antitussives. Discussion of the problem «to treat or not to treat subacute cough in acute respiratory infection of the upper respiratory tract» from the standpoint of evidence-based medicine is shown. No conflict of interest was declared by the authors. Key words: children, subacute cough, acute respiratory infections.

Evidence-Based Medicine, Appropriate-Use Criteria, and Sports Medicine: How Best to Develop Meaningful Treatment Guidelines

2013 ◽  
Vol 29 (7) ◽  
pp. 1224-1229 ◽  
Author(s):  
Louis F. McIntyre ◽  
William R. Beach ◽  
Laurence D. Higgins ◽  
Margaret M. Mordin ◽  
Josephine Mauskopf ◽  
...  
Keyword(s):  
Evidence Based Medicine ◽  
Sports Medicine ◽  
Treatment Guidelines ◽  
Evidence Based ◽  
Appropriate Use Criteria ◽  
Appropriate Use ◽  
Based Medicine

scholarly journals Diagnosing urinary tract infections in febrile infants and children: when evidence-based medicine and clinical practice collide

CJEM ◽  
2000 ◽  
Vol 2 (03) ◽  
pp. 197-200 ◽  
Author(s):  
Julie Spence ◽  
John Ross
Keyword(s):  
Emergency Department ◽  
Urinary Tract Infection ◽  
Urinary Tract ◽  
Pediatric Patients ◽  
Therapeutic Strategies ◽  
Evidence Based ◽  
Emergency Department Management ◽  
Tract Infections ◽  
Based Medicine ◽  
Infants And Young Children

ABSTRACTThe management of febrile pediatric patients is challenging, and the literature is replete with articles describing diverse diagnostic and therapeutic strategies. As many as 5% of infants and young children presenting with fever will be diagnosed with urinary tract infection. Many controversies exist concerning the management of these infections, the most important being: how to make the diagnosis. The financial and time costs of emergency department management must be balanced against the potential future costs of investigations and complications.

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