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 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 Quality appraisal of clinical practice guidelines for diabetes mellitus published in China between 2007 and 2017 using the AGREE II instrument

BMJ Open ◽  
2019 ◽  
Vol 9 (9) ◽  
pp. e022392
Author(s):  
Yuting Gao ◽  
Jinjing Wang ◽  
Xufei Luo ◽  
Xiaoyang Song ◽  
Lian Liu ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Clinical Practice ◽  
Correlation Coefficient ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Biomedical Literature ◽  
Agree Ii ◽  
The Mean ◽  
Agree Ii Instrument

ObjectiveThe aim of this study was to systematically evaluate the quality of the clinical practice guidelines (CPGs) for diabetes mellitus published in China over the period of January 2007 to April 2017.MethodsWe searched the China National Knowledge Infrastructure, Chinese Biomedical Literature database, VIP database and WanFang databases and guideline websites for CPGs for diabetes mellitus published between January 2007 and April 2017 in China. Two reviewers independently screened the literature according to the inclusion and exclusion criteria and extracted data. We used the the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool (Canadian Institutes of Health Research, Ottawa, Canada) to evaluate the quality of the included guidelines, calculated the scores of each domain and evaluated the consistency among the assessors via use of the intragroup correlation coefficient. And then we compared the results with Chinese CPGs and international CPGs. We conducted a subgroup analysis based on different classification criteria and compared scores of each domain subgroup analyses.ResultsA total of 98 guidelines were identified. The correlation coefficient within the group was 0.93, suggesting that the consistency between the evaluators was good. The scores of the six domains of AGREE II were described in median (IQR) as follows: scope and purpose 53.7 (50.0–59.7), stakeholder involvement 31.5 (27.3–37.0), rigour of development 19.1 (15.3–22.2), clarity of presentation 59.3 (50.0–64.8), applicability 18.1 (13.9–25.7) and editorial independence 0.0 (0.0–0.0). The mean score in each domain of quality of Chinese diabetes CPGs was lower than that of CPGs published worldwide but higher than the mean score of Chinese guidelines of all topics. A funding source, the updated version, organisation and publishers of the guidelines and target fields are all the factors influencing the quality of CPGs to a certain degree.ConclusionsA large number of Chinese diabetes CPGs have been produced. Their quality remain unsatisfactorily low compared with CPGs worldwide, there is still room for improvement. Chinese guideline developers should pay more attention to the transparency of methodology, and use the AGREE II instrument to develop and report guidelines.

Prehospital sepsis care in Ireland: an audit

2020 ◽  
Vol 12 (7) ◽  
pp. 269-276
Author(s):  
Nicola Mulrooney ◽  
Patrick McCluskey ◽  
Martin O'Reilly ◽  
Niamh Collins
Keyword(s):  
Severe Sepsis ◽  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Early Recognition ◽  
Prehospital Care ◽  
Young Patients ◽  
Life Threatening Illness ◽  
Chief Complaints ◽  
Life Threatening

Background: Sepsis is a life-threatening illness that requires early recognition and treatment. In Ireland, mortality, while improving, remains at 17% for adults and in a range of 2–4% in children aged under16 years. Prompt, accurate recognition of severe sepsis in the prehospital period could improve outcomes in patients with severe sepsis. Aim: This study aimed to audit the prehospital care of patients with sepsis against national Irish sepsis clinical practice guidelines and identify areas for improvement. Methods: A retrospective analysis of all Dublin Fire Brigade patient care reports over a 1-week period was carried out and patients with potential sepsis and potential severe sepsis were identified. Care was assessed against the national prehospital clinical practice guidelines. Call-taking and dispatch information were cross-checked. Findings: The incidence of potential sepsis was 3.7%. It is a condition of extremes of age; 8.5% of patients were aged less than 1 year and 58% were aged above 65 years. While 48% of calls were categorised as high priority, about one-third (32%) were put in a low-priority category, and 37% of the latter were potential cases of severe sepsis. The most common chief complaints at the call-taking stage were ‘breathing problems’ and ‘sick person’. Conclusion: Potential sepsis is not infrequent and call-taking information may not capture the potential or severity of sepsis. Education must emphasise the risk in old and young patients. To ensure patients receive timely advanced interventions, call-taking and dispatch systems should ensure that practitioners with the skills to identify and manage sepsis are dispatched to these patients.

scholarly journals A review of the quality of current diabetes clinical practice guidelines

2017 ◽  
Vol 41 ◽  
pp. 1 ◽  
Author(s):  
Alberto Barcelo ◽  
Muzamil Jawed ◽  
Anthony Qiang ◽  
the PAHO Diabetes Guideline Project Group
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Guideline Development ◽  
Noncommunicable Diseases ◽  
Agree Ii ◽  
Quality Guidelines ◽  
The Mean ◽  
Health Organization ◽  
Almost All

Objective To obtain an evaluation of current type 2 diabetes mellitus (T2DM) clinical practice guidelines. Methods Relevant guidelines were identified through a systematic search of MEDLINE/PubMed. Pan American Health Organization (PAHO) country offices were also contacted to obtain national diabetes guidelines in use but not published/available online. Overall, 770 records were identified on MEDLINE/PubMed for citations published from 2008 to 2013. After an initial screening of these records, 146 were found to be guidelines related to diabetes. Inclusion and exclusion criteria were used to further refine the search and obtain a feasible number of guidelines for appraisal. Guideline evaluation was conducted by health professionals using the Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument, which was developed to address the issue of variability in guideline quality and assesses the methodological rigor and transparency in which a guideline is developed. A total of 17 guidelines were selected and evaluated. Results Ten guidelines scored ≥ 70% and seven guidelines scored ≥ 80%. The range was 21%–100%. The mean scores for Latin America and the Caribbean (LAC) country guidelines (n = 6) were compared to the mean scores for non-LAC country guidelines (n = 11). International guidelines consistently scored notably higher in all domains and overall quality than LAC guidelines. Conclusions Based on this study’s findings, it is clear that T2DM clinical practice guideline development requires further improvements, particularly with regard to the involvement of stakeholders and editorial independence. This issue is most apparent for LAC country guidelines, as their quality requires major improvement in almost all aspects of the AGREE II criteria. Continued efforts should be made to generate and update high-quality guidelines to improve the management of increasingly prevalent noncommunicable diseases, such as T2DM.

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.

scholarly journals Prosthetic valve trhombosis

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
IALC Alarcon De La Lastra Cubiles ◽  
DMS Mialdea Salmeron ◽  
JEPG Puche Garcia ◽  
DGM Garcia Molinero ◽  
PCL Cabeza Lainez ◽  
...  
Keyword(s):  
Clinical Practice ◽  
High Risk ◽  
Hospital Admission ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Prosthetic Valve ◽  
The Other ◽  
Valve Thrombosis ◽  
Slow Infusion ◽  
The Mean

Abstract Funding Acknowledgements Type of funding sources: None. Background Prosthetic valve thrombosis (DVT) is a  very serious complication, with high morbidity and mortality, a high risk of stroke during hospital admission, and which occurs especially in patients with poorly anticoagulated mechanical prostheses. Therapeutic options available for DVT are surgery, with or without prosthetic replacement, and intravenous thrombolysis. However, there is no randomized study comparing these two interventions. Therefore optional treatment is controversial. This is also reflected in the current clinical practice guidelines of international scientific societies of the year 2017, where the American College of Cardiology / American Heart Association considers surgery and thrombolysis as comparable treatments (Class I), and On the other hand, the European Society of Cardiology (ESC) opts for surgery, leaving thrombolysis only for when surgery is not available, has a very high risk or for cases of right valve thrombosis. Purpose In our center we have used a thrombolysis regimen with low doses of t-PA and in slow infusion with adequates results, proposed by Özkan et al. with 25 mg of t-PA administered over 25 hours, repeating this dose up to DVT resolution or a maximum of 8 times. Methods We reviewed eleven patients, all with mechanical valve prostheses, six treated with surgery and five with systemic thrombolysis. Of the latter, two cases were treated with a high-dose and accelerated t-PA regimen (10 mg bolus and 90 mg in 2 hours) and the other three cases with low and ultra-slow doses (25 mg in 25 hours). We consider the normalization of the mean transvalvular gradients and the resolution of regurgitation in cases of prosthetic insufficiency a successful result. The mean age was 62.6 years and the mean time from surgery to DVT of 84.9 months. Most of the patients belonged to class III and IV of the NYHA. Anticoagulation was subtherapeutic in 80% of cases. The thrombolysis success rate was 100%.  Of the three cases of ultra-slow pattern, only one of them required a second dose. No side effects or complications were observed. In the surgery group, two patients died during hospital admission as a result of shock and a state of low postoperative cardiac output. In the thrombolysis group, there was only one deceased at 8 months, although not related to DVT related to metastatic melanoma. Results We observed a full success rate in the resolution of DVT, with no complications in cases of thrombolysis compared to surgery. Bolus ultra-slow infusion of t-PA is equally effective in resolving DVT, although logically with less bleeding risk due to the dose used and the time of administration, without embolic events having been observed due to slower lysis of the thrombus or new thrombosis during a year of follow-up. Conclusion According to our results treatment with low-dose and ultra-slow t-PA regimen will be the initial therapeutic option in clinical practice guidelines given the safety, low cost, and efficacy. Abstract Figure. valvular thrombosis. Evolution.

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.

Sign in / Sign up

Export Citation Format

Share Document