scholarly journals Federal clinical practice guidelines on the diagnostics and treatment of Shereshevsky-Turner syndrome

2014 ◽  
Vol 60 (4) ◽  
pp. 65-76 ◽  
Author(s):  
N N Volevodz
Keyword(s):  
Clinical Practice ◽  
Turner Syndrome ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Growth Retardation ◽  
Age Groups ◽  
Physical Development ◽  
Present Information

Shereshevsky-Turner syndrome is a chromosomal pathology related to partial or complete monosomia. Characteristic manifestations of this condition include growth retardation, sexual infantilism, and various inborn anomalies of the physical development. The present recommendations present information on etiology of this disease, its pre- and postnatal diagnostics, protocols of relevant studies and treatment of the patients belonging to different age groups.

scholarly journals BRIDGING THE TRANSLATION GAP: FROM DEMENTIA RISK ASSESSMENT TO ADVICE ON RISK REDUCTION

2015 ◽  
pp. 1-10
Author(s):  
K.J. Anstey ◽  
R. Eramudugolla ◽  
D.E. Hosking ◽  
N.T. Lautenschlager ◽  
R.A. Dixon
Keyword(s):  
Risk Assessment ◽  
Clinical Practice ◽  
Risk Reduction ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Academic Research ◽  
Current Evidence ◽  
Factors Associated ◽  
Dementia Risk ◽  
Present Information

Dementia risk reduction is a global health and fiscal priority given the current lack of effective treatments and the projected increased number of dementia cases due to population ageing. There are often gaps among academic research, clinical practice, and public policy. We present information on the evidence for dementia risk reduction and evaluate the progress required to formulate this evidence into clinical practice guidelines. This narrative review provides capsule summaries of current evidence for 25 risk and protective factors associated with AD and dementia according to domains including biomarkers, demographic, lifestyle, medical, and environment. We identify the factors for which evidence is strong and thereby especially useful for risk assessment with the goal of personalising recommendations for risk reduction. We also note gaps in knowledge, and discuss how the field may progress towards clinical practice guidelines for dementia risk reduction.

scholarly journals NARRATIVE REVIEW ON THE CLINICAL PRACTICE GUIDELINES FOR THE MANAGEMENT OF OVERWEIGHT/OBESITY IN ADULTS

2019 ◽  
pp. 10-16
Author(s):  
PALANISAMY AMIRTHALINGAM
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Age Groups ◽  
Patient Characteristics ◽  
Qualitative Synthesis ◽  
Ethnic Populations ◽  
The Subject

Objectives: Obesity causes morbidity and mortality and also impairs the quality of life in humans. Clinical practice guidelines are well established to treat the obese population with or without comorbidities in all the age groups. Obesity in adults is a risk factor for metabolic disorders including Type-2 diabetes mellitus, hypertension, dyslipidemia, etc. Hence, this review has compared the various international clinical practice guidelines for the management of obesity in adults. Methods: Four articles were included in the qualitative synthesis after the systematic review of the literature obtained from PubMed/MEDLINE and Web of Sciences. Diagnosis and various interventions including lifestyle, pharmacotherapy and bariatric surgery are compared for the management of obesity in adults. Results: The diagnosis is crucial since the criteria to determine overweight/obesity is still under debate due to inconclusive evidence. Various interventions including diet, exercise, behavior, drug therapy, and surgery are being recommended currently for the management of obesity. However, ethnicity and culture play a major role in diagnosis and also interventions. Moreover, personalizing the interventions according to the subject will make sense and offers success in the management of obesity. Conclusion: Diagnosis and the intervention should be subject oriented based on ethnicity, culture and patient characteristics. In this connection, many longitudinal studies warranted to specify the diagnostic and management criteria for adults among the various ethnic populations across the world.

Can Boys Have Turner Syndrome? More than a Question of Semantics

2021 ◽  
pp. 1-8
Author(s):  
Michelle M. Knoll ◽  
Julie Strickland ◽  
Jill D. Jacobson
Keyword(s):  
Clinical Practice ◽  
Turner Syndrome ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Early Recognition ◽  
Sex Development ◽  
Differences Of Sex Development ◽  
Z Scores ◽  
The Mean ◽  
Chromosome Material

Individuals with 45,X mosaicism with Y chromosome material raised as boys are not diagnosed with Turner syndrome, a label restricted to phenotypic females. We sought to determine if boys with 45,X mosaicism had features consistent with Turner syndrome. Twenty-two patients (14 girls, 8 boys) seen in our Differences of Sex Development (DSD) clinic were identified for review. Standardized height (z-scores) by sex of rearing and results of cardiology, renal, audiology, thyroid, and celiac screenings were recorded. All subjects had heights below the mean for sex. Z-scores were not significantly different between boys and girls (<i>p</i> = 0.185). There were no significant differences in the incidence of cardiac anomalies between boys and girls (<i>p</i> = 0.08). Girls were more likely to have additional screenings (<i>p</i> = 0.042), but there were no significant differences in the number of positive screenings between boys and girls (<i>p</i> = 0.332). Patients with 45,X mosaicism raised as boys appear to have features similar to patients with the same karyotype raised as girls. Routine screening of boys following the Turner Syndrome Clinical Practice Guidelines may allow early recognition of comorbidities. Additionally, obtaining karyotypes on boys with short stature or other features of Turner syndrome may identify unrecognized cases of 45,X mosaicism.

scholarly journals Relapsing polychondritis: state of the art on clinical practice guidelines

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000788 ◽  
Author(s):  
Simona Rednic ◽  
Laura Damian ◽  
Rosaria Talarico ◽  
Carlo Alberto Scirè ◽  
Alexander Tobias ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Unmet Needs ◽  
Age Groups ◽  
Relapsing Polychondritis ◽  
Anaesthetic Management ◽  
Medical Subject Headings ◽  
Publication Type ◽  
Patient Reported

Due to the rarity of relapsing polychondritis (RP), many unmet needs remain in the management of RP. Here, we present a systematic review of clinical practice guidelines (CPGs) published for RP, as well as a list of the most striking unmet needs for this rare disease. We carried out a systematic search in PubMed and Embase based on controlled terms (medical subject headings and Emtree) and keywords of the disease and publication type (CPGs). The systematic literature review identified 20 citations, among which no CPGs could be identified. We identified 11 main areas with unmet needs in the field of RP: the diagnosis strategy for RP; the therapeutic management of RP; the management of pregnancy in RP; the management of the disease in specific age groups (for instance in paediatric-onset RP); the evaluation of adherence to treatment; the follow-up of patients with RP, including the frequency of screening for the potential complications and the optimal imaging tools for each involved region; perioperative and anaesthetic management (due to tracheal involvement); risk of neoplasms in RP, including haematological malignancies; the prevention and management of infections; tools for assessment of disease activity and damage; and patient-reported outcomes and quality of life indicators. Patients and physicians should work together within the frame of the ReCONNET network to derive valuable evidence for obtaining literature-informed CPGs.

scholarly journals Growth Curves for Girls with Turner Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Fabio Bertapelli ◽  
Antonio de Azevedo Barros-Filho ◽  
Maria Ângela Reis de Góes Monteiro Antonio ◽  
Camila Justino de Oliveira Barbeta ◽  
Sofia Helena Valente de Lemos-Marini ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Turner Syndrome ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Growth Curves ◽  
Size Exclusion ◽  
Height Velocity ◽  
Leg Length ◽  
Potential Growth ◽  
Lack Of Information

The objective of this study was to review the growth curves for Turner syndrome, evaluate the methodological and statistical quality, and suggest potential growth curves for clinical practice guidelines. The search was carried out in the databases Medline and Embase. Of 1006 references identified, 15 were included. Studies constructed curves for weight, height, weight/height, body mass index, head circumference, height velocity, leg length, and sitting height. The sample ranged between 47 and 1,565 (total = 6,273) girls aged 0 to 24 y, born between 1950 and 2006. The number of measures ranged from 580 to 9,011 (total = 28,915). Most studies showed strengths such as sample size, exclusion of the use of growth hormone and androgen, and analysis of confounding variables. However, the growth curves were restricted to height, lack of information about selection bias, limited distributional properties, and smoothing aspects. In conclusion, we observe the need to construct an international growth reference for girls with Turner syndrome, in order to provide support for clinical practice guidelines.

High Flow Oxygen Therapy and the Pressure to Feed Infants With Acute Respiratory Illness

2020 ◽  
Vol 5 (4) ◽  
pp. 1006-1010
Author(s):  
Jennifer Raminick ◽  
Hema Desai
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Oxygen Therapy ◽  
Respiratory Illness ◽  
High Flow ◽  
Oral Feeding ◽  
Respiratory Support ◽  
Acute Respiratory Illness ◽  
High Flow Oxygen

Purpose Infants hospitalized for an acute respiratory illness often require the use of noninvasive respiratory support during the initial stage to improve their breathing. High flow oxygen therapy (HFOT) is becoming a more popular means of noninvasive respiratory support, often used to treat respiratory syncytial virus/bronchiolitis. These infants present with tachypnea and coughing, resulting in difficulties in coordinating sucking and swallowing. However, they are often allowed to feed orally despite having high respiratory rate, increased work of breathing and on HFOT, placing them at risk for aspiration. Feeding therapists who work with these infants have raised concerns that HFOT creates an additional risk factor for swallowing dysfunction, especially with infants who have compromised airways or other comorbidities. There is emerging literature concluding changes in pharyngeal pressures with HFOT, as well as aspiration in preterm neonates who are on nasal continuous positive airway pressure. However, there is no existing research exploring the effect of HFOT on swallowing in infants with acute respiratory illness. This discussion will present findings from literature on HFOT, oral feeding in the acutely ill infant population, and present clinical practice guidelines for safe feeding during critical care admission for acute respiratory illness. Conclusion Guidelines for safety of oral feeds for infants with acute respiratory illness on HFOT do not exist. However, providers and parents continue to want to provide oral feeds despite clinical signs of respiratory distress and coughing. To address this challenge, we initiated a process change to use clinical bedside evaluation and a “cross-systems approach” to provide recommendations for safer oral feeds while on HFOT as the infant is recovering from illness. Use of standardized feeding evaluation and protocol have improved consistency of practice within our department. However, further research is still necessary to develop clinical practice guidelines for safe oral feeding for infants on HFOT.

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