scholarly journals Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease

Endocrine ◽  
2021 ◽  
Vol 71 (3) ◽  
pp. 539-541
Author(s):  
Martin Reincke ◽  
Anita Hokken-Koelega
Keyword(s):  
Rare Diseases ◽  
European Society ◽  
Treatment Options ◽  
Endocrine System ◽  
Pediatric Endocrinology ◽  
Inherited Disorders ◽  
Endocrine Disease ◽  
Endocrine Diseases ◽  
Paediatric Endocrinology ◽  
Life Threatening

Abstract Purpose Rare diseases affect <1 in 2000 people. Despite their rarity, they collectively affect ~30 million people across Europe. The aim of this article is to present the view of our European endocrine societies on the care of patients with rare endocrine conditions. Methods We evaluated the current situation of patients with rare endocrine disease and present the joint views of the European Society for Endocrinology (ESE) and the European Society for Pediatric Endocrinology (ESPE) on how the endocrine disciplines can support and contribute to a better health of patients with rare endocrine conditions in Europe. Results Rare diseases pose many challenges, including early diagnosis and innovative treatment options. Rare endocrine diseases can be found among inherited disorders, cancers, and conditions associated with metabolic disorders such as diabetes, calcium and bone metabolism, lipid metabolism, hypogonadism, and adrenal, pituitary, and thyroid dysfunction. According to the European Registries for Rare Endocrine conditions, there are over 440 distinct rare diseases that affect the endocrine system. Rare endocrine diseases are often chronic and life-threatening. Conclusions ESE and ESPE support a strategic plan to address unmet needs in the area of rare endocrine conditions. The EU should continue to evolve and expand its plans for funding European Reference Networks so that they can expand their activities.

scholarly journals Disease Profile and Socio-economic Status of Patients Attending at Endocrine Outpatient Department of a Tertiary Level Hospital

1970 ◽  
Vol 11 (1) ◽  
pp. 24-27
Author(s):  
Md Abdul Mannan ◽  
Kazi Jahangir Hossain ◽  
Md Mustafa Kamal
Keyword(s):  
Diabetes Mellitus ◽  
Socioeconomic Status ◽  
Economic Status ◽  
Endocrine System ◽  
Outpatient Department ◽  
Endocrine Disease ◽  
Endocrine Diseases ◽  
System Disease ◽  
Disease Pattern ◽  
Male Patients

The aim of this study was to find out the pattern of endocrine diseases and socioeconomic status of the patients attending at outpatient department of endocrinology of Sir Salimullah Medical College Mitford Hospital, Dhaka. A total of 498 endocrine patients were selected on the basis of defined criteria from September 2007 to August 2008. Of the 498 patients, 292 were female and 206 male. Majority of female patients were housewives (86.3%) while most of the male patients were businessmen (86.4%). Majority of them (59.4%) were in the age range of 41-75 years and 92.0% were married. About 7% were found obese, comparatively more in male patients. In endocrine disease pattern, 36.9% had diabetes mellitus, 18% hypothyroidism and 6.0% goiter. Impaired glucose tolerance (IGT), hyperthyroidism, hirsutism, gynaecomastia, infertility, gestational diabetes mellitus (GDM), hyperprolactinemia and short stature were found in 2.0%, 1.6%, 1.6%, 1.2%, 0.8%, 0.8%, 0.4% and 0.4% respectively. About 30.0% of the endocrine patients were found to be associated with other non-endocrine diseases or obesity. Appropriate medical treatment facilities in combination with motivational enhancement therapies are needed to ensure proper medical management of these patients. Keywords: Endocrine disease, endocrine system disease, socioeconomic status. DOI:10.3329/jom.v11i1.4264 J Medicine 2010: 11: 24-27

scholarly journals DIAGNOSIS OF ENDOCRINE DISEASE: Limitations of the IGF1 generation test in children with short stature

2012 ◽  
Vol 166 (3) ◽  
pp. 351-357 ◽  
Author(s):  
Régis Coutant ◽  
Helmuth-Günther Dörr ◽  
Helena Gleeson ◽  
Jesús Argente
Keyword(s):  
Literature Review ◽  
Positive Predictive Value ◽  
Short Stature ◽  
European Society ◽  
Predictive Value ◽  
Treatment Decisions ◽  
Pragmatic Approach ◽  
Endocrine Disease ◽  
Paediatric Endocrinology ◽  
Generation Test

The IGF1 generation test (IGFGT) is often used during the assessment of suspected GH insensitivity (GHI). We report the results of a survey undertaken in 2010 to determine the use of IGFGT amongst members of the European Society for Paediatric Endocrinology to evaluate suspected GHI. The literature surrounding the usefulness and limitations of IGFGT are reviewed, and recommendations provided for its use. Of 112 paediatric endocrinologists from 30 countries who responded to the survey, 91 (81%) reported that they had used the IGFGT in the previous 2 years; >10 IGFGT protocols were used. The IGFGT impacted treatment decisions for 97% of the respondents and was a prerequisite for recombinant human IGF1 treatment for 45% of respondents. From a literature review, sensitivity of the IGFGT was evaluated as 77–91% in molecularly proven cases of GHI; specificity was ≤97%, depending on the protocol. The positive predictive value of the IGFGT is likely to be low, as the frequency of normality is predictably higher than that of abnormality in GH signalling. Given the limitations of the IGFGT in the most severe cases of GHI syndrome (GHIS), the ability of the IGFGT to detect less severe GHIS is doubtful. In a pragmatic approach, the IGFGT may not be useful for the diagnosis of GHIS.

Diseases of the endocrine system in children in Ukraine and the provision of specialized care to pediatric patients in 2020

2021 ◽  
pp. 4-14
Author(s):  
N. B. Zelinska ◽  
N. G. Rudenko ◽  
E. V. Globa ◽  
O. V. Rudenko ◽  
К. Grishchenko ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Growth Hormone ◽  
Short Stature ◽  
Turner Syndrome ◽  
Sex Differentiation ◽  
Endocrine System ◽  
The State ◽  
Pediatric Endocrinology ◽  
Endocrine Diseases ◽  
Specialized Care

The articles provide information and analysis of statistical indicators on the state of endocrinological care for children in 2020 in general in Ukraine and in some regions, their dynamics for 2014—2020. Providing data on staffing of the pediatric endocrinology service; the state of inpatient care for children with endocrine diseases; disability due to endocrine pathology, which has been carried out in recent years, is constantly growing, in particular diabetes, hypothyroidism and others; diseases and prevalence of malignant diseases of the endocrine glands in children. It is also possible to provide data from the register of children with active endocrine diseases, namely, diabetes mellitus, including its various forms, pathological short stature, the disorders of sex differentiation (DSD). The problematic issues of specialized care for children with diseases of the endocrine system are highlighted.It is estimated that according to the register of children with diabetes mellitus (DM) in 2020, 10,743 patients under the age of 18 were registered (14.26 per 10,000 children), including 10,598 children receiving insulin therapy (with DM Type 1, other types of diabetes requiring insulin treatment) (14.07), 51 — with DM type 2, 66 children with neonatal diabetes, of which 36 diagnoses are genetically confirmed, and MODY is genetically confirmed in 48 children. The prevalence of diabetes among children aged 0—18 years in 2020 increased compared to 2014 by 34.9 %.For patients with DSD conduct a detailed cytognetic examination in the leading genetic laboratories. Responding to the database of such children, to which 654 patients were includ, in particular with chromosomal DSD — 347 children (53.1 %, 303 patients with Turner syndrome); of 46, XY DSD — 102 patients (15.6 %); of 46, XX — 205 patients (31.3 %), as well as 185 children with DSD due to congenital adrenal hyperplasia.It is reported that in 2020, 1,630 children with short stature under the age of 18 who need treatment with growth hormone were registered in Ukraine, including 1,223 children with pituitary and pituitary-cerebral dwarfism, 255 children with Turner syndrome, 65 — with Russell—Silver syndrome, 43 — with Prader—Willi syndrome, 21 children with short stature, born small for their gestational age (SGA), as well as 22 children with dwarfism due to chronic renal failure. The number of such volumes increases by an average of 10 %. These children receive treatment with growth hormone drugs at the expense of the state budget.

The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum
Keyword(s):  
Rare Diseases ◽  
Treatment Options ◽  
Castleman Disease ◽  
High Impact ◽  
Collaborative Network ◽  
Network Approach ◽  
Grant Applications ◽  
Research Questions ◽  
Novel Strategy ◽  
Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

An Overview of Dementias

2012 ◽  
Vol 21 (3) ◽  
pp. 75-84
Author(s):  
Venkata Vijaya K. Dalai ◽  
Jason E. Childress ◽  
Paul E Schulz
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Current Treatment ◽  
Great Variability ◽  
Health Concern ◽  
Public Health Concern ◽  
Life Threatening ◽  
The Common ◽  
Neurodegenerative Dementias ◽  
Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

Qualität der medizinischen Versorgung von Kindern mit primärer angeborener Hypothyreose

2019 ◽  
Vol 19 (02) ◽  
pp. 80-90
Author(s):  
J. Hoppmann ◽  
I. Vasilakis ◽  
M. Vogel ◽  
S. Stoll ◽  
J. Gesing ◽  
...  
Keyword(s):  
European Society ◽  
Medikamentöse Therapie ◽  
Paediatric Endocrinology ◽  
Diagnostik Und Therapie ◽  
Qualität Der Medizinischen Versorgung ◽  
Angeborene Hypothyreose

Zusammenfassung Einleitung Die primäre angeborene Hypothyreose ist die häufigste angeborene endokrine Erkrankung. Ziel unserer Studie war es, zu untersuchen, wie hoch die Qualität der medizinischen Behandlung von Kindern mit primärer angeborener Hypothyreose in Deutschland ist und inwiefern die kürzlich veröffentlichten Empfehlungen der Europäischen Gesellschaft für Kinderendokrinologie (European Society for Paediatric Endocrinology [ESPE]) in der Diagnostik und Therapie der Kinder mit einer primären angeborenen Hypothyreose bereits in der Vergangenheit von den behandelnden Ärzten in der alltäglichen Praxis umgesetzt worden sind. Methoden Hierzu wurden retrospektiv die Daten aller Patienten, die von 1998 bis 2008 ein positives Testergebnis für eine primäre angeborene Hypothyreose im Neugeborenscreening (NGS) im Screeningzentrum Leipzig aufwiesen, analysiert. Ergebnisse Das NGS wurde mehrheitlich im empfohlenen Zeitraum durchgeführt. Eine ätiologische Zuordnung der angeborenen Hypothyreose gelang in 71 % der Fälle. Die medikamentöse Therapie mit L-Thyroxin (LT4) wurde durchschnittlich mit 8,5 Lebenstagen begonnen. Eine Normalisierung der Schilddrüsenhormone wurde durchschnittlich innerhalb von 11,4 Tagen nach Behandlungsbeginn erreicht. Eine formale audiologische und neurokognitive Testung im Verlauf wurde zwar lediglich in 25 % und 5 % durchgeführt und dokumentiert. Betroffene Kinder erhielten dennoch die notwendigen Fördermaßnahmen auf Grundlage der klinischen Einschätzung der behandelnden Ärzte. Diskussion Unsere Studie zeigt, dass die Empfehlungen der kinderendokrinologischen Fachgesellschaft bereits mehrheitlich umgesetzt wurden. Die Diagnostik zur ätiologischen Zuordnung der primären angeborenen Hypothyreose, die Durchführung von audiologischen Untersuchungen sowie die Dokumentation und Nachverfolgung der Patienten bedürfen Verbesserung.

scholarly journals Update and guidance on management of myopia. European Society of Ophthalmology in cooperation with International Myopia Institute

2021 ◽  
pp. 112067212199896
Author(s):  
János Németh ◽  
Beáta Tapasztó ◽  
Wagih A Aclimandos ◽  
Philippe Kestelyn ◽  
Jost B Jonas ◽  
...  
Keyword(s):  
European Society ◽  
High Myopia ◽  
Treatment Options ◽  
Vision Impairment ◽  
Pathological Myopia ◽  
Myopia Progression ◽  
Preventive Actions ◽  
Prevalence Estimates ◽  
Number Of Individuals ◽  
Myopia Control

The prevalence of myopia is increasing extensively worldwide. The number of people with myopia in 2020 is predicted to be 2.6 billion globally, which is expected to rise up to 4.9 billion by 2050, unless preventive actions and interventions are taken. The number of individuals with high myopia is also increasing substantially and pathological myopia is predicted to become the most common cause of irreversible vision impairment and blindness worldwide and also in Europe. These prevalence estimates indicate the importance of reducing the burden of myopia by means of myopia control interventions to prevent myopia onset and to slow down myopia progression. Due to the urgency of the situation, the European Society of Ophthalmology decided to publish this update of the current information and guidance on management of myopia. The pathogenesis and genetics of myopia are also summarized and epidemiology, risk factors, preventive and treatment options are discussed in details.

scholarly journals Radiation-Inactivated Acinetobacter baumannii Vaccine Candidates

Vaccines ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 96
Author(s):  
Stephen J. Dollery ◽  
Daniel V. Zurawski ◽  
Elena K. Gaidamakova ◽  
Vera Y. Matrosova ◽  
John K. Tobin ◽  
...  
Keyword(s):  
Acinetobacter Baumannii ◽  
Treatment Options ◽  
Bacterial Pathogen ◽  
Multidrug Resistant ◽  
Bacterial Cells ◽  
Wound Infections ◽  
Protein Profiles ◽  
Vaccine Candidates ◽  
Rich Media ◽  
Life Threatening

Acinetobacter baumannii is a bacterial pathogen that is often multidrug-resistant (MDR) and causes a range of life-threatening illnesses, including pneumonia, septicemia, and wound infections. Some antibiotic treatments can reduce mortality if dosed early enough before an infection progresses, but there are few other treatment options when it comes to MDR-infection. Although several prophylactic strategies have been assessed, no vaccine candidates have advanced to clinical trials or have been approved. Herein, we rapidly produced protective whole-cell immunogens from planktonic and biofilm-like cultures of A. baumannii, strain AB5075 grown using a variety of methods. After selecting a panel of five cultures based on distinct protein profiles, replicative activity was extinguished by exposure to 10 kGy gamma radiation in the presence of a Deinococcus antioxidant complex composed of manganous (Mn2+) ions, a decapeptide, and orthophosphate. Mn2+ antioxidants prevent hydroxylation and carbonylation of irradiated proteins, but do not protect nucleic acids, yielding replication-deficient immunogenic A. baumannii vaccine candidates. Mice were immunized and boosted twice with 1.0 × 107 irradiated bacterial cells and then challenged intranasally with AB5075 using two mouse models. Planktonic cultures grown for 16 h in rich media and biofilm cultures grown in static cultures underneath minimal (M9) media stimulated immunity that led to 80–100% protection.

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