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Transition to Adulthood in Turner Syndrome
Turner syndrome (TS) occurs in approximately 1:2000 – 1:2500 live-born female infants. The diagnosis is based on a total or partial absence of an X chromosome. Besides the characteristic phenotype, TS is associated with multiple conditions. Leading symptoms in this syndrome are short stature and ovarian dysgenesis leading to infertility in most cases. Particular attention should be paid to congenital heart defects, which affect approximately 20–50% of girls and women with TS and are directly related to an increased mortality in this patient group. Additionally, there is an increased risk of autoimmune diseases, such as autoimmune thyroiditis and coeliac disease. The other disturbances are kidneys abnormalities, recurrent otitis leading to conductive hearing loss, vision problems, and mental health issues.
Endocrine Consequences of Prader-Willi Syndrome
Prader-Willi Syndrome has an estimated birth incidence of 1 in 10,000-30,000 people and affects male and females equally. The rare genetic disorder is caused by absent expression of the paternally-inherited genes on chromosome 15q11.2-q13 and presents implications on the endocrine system from early life as a result of associated hypothalamic dysfunction. Patients with Prader-Willi Syndrome experience endocrine disorders such as hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density. The features of Prader-Willi Syndrome are also consistent with those of growth hormone deficiency; patients also present with short stature and growth deceleration. Those with Prader-W...
Hot Topics of Debate on Turner Syndrome: Growth, Puberty, Cardiovascular Risks, Fertility and Psychosocial Development
Turner syndrome (TS) is a relatively common chromosomal disorder affecting approximately 1 in 2000 live female births. Short stature is the most common clinical presentation of the syndrome; it is observed in 80 % to 100 % of the girls with TS. Growth is stunted to a variable degree at different phases of childhood and adolescence in TS. Although there is consensus on treating growth failure as early as possible, there is ongoing research to ameliorate final height in TS girls. The co-existence of primary ovarian failure in girls with TS further complicates the management of short stature. It remains to be determined what is the best age to begin treatment for pubertal induction and/or maint...
Principles and Practice of Fertility Preservation
The specialty of fertility preservation offers patients with cancer, who are rendered infertile by chemo- and radiotherapy, the opportunity to realize their reproductive potential. This gold-standard publication defines the specialty. The full range of techniques and scientific concepts is covered in detail, and the author team includes many of the world's leading experts in the field. The book opens with introductions to fertility preservation in both cancer and non-cancer patients, followed by cancer biology, epidemiology and treatment, and reproductive biology and cryobiology. Subsequent sections cover fertility preservation strategies in males and females, including medical/surgical procedures, ART, cryopreservation and transplantation of both ovarian tissue and the whole ovary, and in-vitro follicle growth and maturation. Concluding chapters address future technologies, as well as ethical, legal and religious issues. Richly illustrated throughout, this is a key resource for all clinicians specializing in reproductive medicine, gynecology, oncology, hematology, endocrinology and infertility.
Intelligent Systems in Production Engineering and Maintenance
The book presents a collection of 103 peer-reviewed articles from the Second International Conference on Intelligent Systems in Production Engineering and Maintenance (ISPEM 2018). The conference was organized by the Faculty of Mechanical Engineering and CAMT (Centre for Advanced Manufacturing Technologies), Wrocław University of Science and Technology and was held in Wrocław (Poland) on 17–18 September 2018. The conferences topics included the possibility of using a wide range of intelligent methods in production engineering, presenting and discussing new solutions for innovative plants, research findings and case studies demonstrating advances in production and maintenance from the poi...
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Hasidism
A must-read book for understanding this vibrant and influential modern Jewish movement Hasidism originated in southeastern Poland, in mystical circles centered on the figure of Israel Ba’al Shem Tov, but it was only after his death in 1760 that a movement began to spread. Today, Hasidism is witnessing a remarkable renaissance around the world. This book provides the first comprehensive history of the pietistic movement that shaped modern Judaism. Written by an international team of scholars, its unique blend of intellectual, religious, and social history demonstrates that, far from being a throwback to the Middle Ages, Hasidism is a product of modernity that forged its identity as a radical alternative to the secular world.
