PreImplantation Factor and Endocrinology of Implantation and Establishment of Early Pregnancy: A Contemporary View.
Authors: Calix RX, Ornaghi S, Wilson JH, Fernandez N, Vialard F, Barnea ER, Paidas MJ
Abstract
The earliest stages of pregnancy are marked by countless changes in the maternal environment. A specific coordination of activity is required for a successful pregnancy, starting early in the menstrual cycle. Early establishment of maternal-fetal crosstalk is critical for the progression of pregnancy. Many factors, both maternal and fetal derived, play specific and important roles immediately following fertilization, through implantation and beyond. Here we present a review of some of the key factors involved wit...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Consanguineous Marriages and Endocrine Diseases in Arab Societies.
Authors: Ahmad N, Chanoine JP
Abstract
The Arab societies have the highest prevalence of consanguineous marriages; this results in an increased incidence of autosomal recessive conditions. There are different trends of family marriages across the globe and also the teachings of major religions differ from each other. The culture of family marriages is no more limited in any specific part of world due to rapid and mass migration of people secondary to wars or economic reasons. The endocrine conditions are relatively less discussed in the medical literature as well as in genetic counselling programs. The aim...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Periodontal Disease and Dental Caries among children and Adolescents Suffering from Endocrine Disorders - A Literature Review.
CONCLUSION: A profound research should be done in order to amend our understanding to what extent, if at all, exists the link between these oral maladies and different pediatric endocrine disorders.
PMID: 29292628 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Meeting Reports: The 2017-USFQ Biennial Meeting on Growth Hormone and IGF1 Research.
Authors: Guevara-Aguirre J, Terán E, Rosenfeld R
PMID: 29292629 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
The Successful Way of BKMF - Self-Help Meets Science.
Authors: Klingebiel R, Klingebiel KH
Abstract
Advocacy, information and psychosocial support have been the key aims of the German Association of Short-Statured People and their Families (BKMF e.V.) since its establishment and development as a self-help organization from the late 1980s on. Since then, members and supporters have striven over around three decades for a fulfilled and self-determined life for people affected by short stature and for their equal participation in society. From the very beginning, communication and collaboration with professionals from medicine and other disciplines, with industr...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Self-Awareness of Growing Up with Short Stature Structured Social Care for Children.
Authors: Carl P, Innig J, Frerichs M
Abstract
In this article two short statured young women talk about their particular challenges when growing up. To be short means, you are always the centre of attention with advantages and disadvantages. At the age of 30 years both resumed, it balances itself out. Attention may be positive but is sometimes exhausting and offending to always be the middle of attention. In order to cope with today's achievement-orientated society BKMF e.V. developed for children and adolescents with restricted growth a structured program how to cope with the challenges and barriers of to...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
The Annual Convention at Hohenroda.
Authors: Henze M
Abstract
Each year the annual convention for people with restricted growth predominantly due to skeletal dysplasia, a 4-day event, is taking place in the middle of Germany with more than 600 participants and speakers. Beside an outstanding leisure program for kids and families, the meeting enclose workshops on various topics, including legal, social and medical aspects. Participants are children, adolescents and adults with restricted growth with different diagnoses and professionals. Apart from the organized workshops the focus has always been on the direct exchange between participants.
...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Patients with Silver-Russell-Syndrome from Birth to Adulthood: Diagnosis, Development and Medical Care.
This article reviews some of the major aspects related to some of these issues.
PMID: 29292870 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.
Authors: Linglart A, Mantovani G, Garin I, Usardi A, Elli FM, de Nanclares GP
Abstract
Pseudohypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in the absence of vitamin D deficiency or impaired renal function. Research studies during the last 20 years have led to the identification of the molecular underlying cause of the disease, the characterization of the clinical and biochemical characteristics and the observation of an overlap between genetic and clinical manifestations. The creation of networks both for...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome.
Authors: Salem JB, Netchine I, Harbison MD
Abstract
Patient-support organizations can facilitate a significant change in the way rare disorders are approached. Besides connecting families with each other and directing patients to experienced medical specialists, these groups, by collaborating with government initiatives like COST, can effect the direction and funding of rare disease research. By concentrating the rare disease patient population and funneling them to specific centers of excellence, these organizations help build specialists' experience and their study populations. It requires a basic spirit...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Guiding Registry for Skeletal Dysplasia. Rational Approach in Classification.
Authors: Zabel B, Spranger J
Abstract
The official nosology and classification of genetic skeletal disorders lists more than 500 recognized diagnostic entities and groups them by clinical, radiographic and - if available - molecular data. The list helps in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists. It can be the basis of a nosology-guided skeletal dysplasia registry and archive. An archive using a slightly modified classification system has been established in Magdeburg/Germany. Its benefits include: i. guidance of mo...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Understanding, Assessing and Improving Health-Related Quality of Life of Young People with Achondroplasia- A Collaboration between a Patient Organization and Academic Medicine.
Authors: Witt S, Rohenkohl A, Bullinger M, Sommer R, Kahrs S, Klingebiel KH, Klingebiel R, Quitmann J
Abstract
Achondroplasia (ACH) is a rare, genetically determined health condition. Patients suffer from disproportional short stature and multiple physical and functional impairments as well as socioemotional problems. Despite the burden of disease, only few studies focus on health-related quality of life (HrQoL) of young ACH patients. In a series of studies, the BKMF e.V. in cooperation with the UKE studied ACH patients' and parents' experience of HrQoL, their responses to HrQoL questionnaires and their ev...
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets.
In conclusion, untreated children with XLR are characterized by normal length at birth, diminished growth rate compared to reference children until 4.3 years and spontaneous catch-up growth of 1.3 HSDS until start of puberty. Improved growth rate in XLR children occured by combined phosphate and calcitriol treatment before 18 months.
PMID: 29292875 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
Correlation of Bone Mineral Density on Quality of Life in Patients with Osteogenesis Imperfecta during Treatment with Denosumab.
In conclusion further trials have to define parameters to assess interventions which influence activities of daily life of the patients. An interdisciplinary approach including physicians, basic researchers and patient organisation is needed to focus research on topics improving quality of life of patients with severe skeletal diseases.
PMID: 29292876 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - January 3, 2018 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
In Memoriam: Ruth Illig, MD (1924-2017).
Authors: Grüters-Kieslich A, Torresani T, Konrad D
PMID: 28845621 [PubMed - in process] (Source: Pediatric Endocrinology Reviews)
Source: Pediatric Endocrinology Reviews - August 29, 2017 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
