bluuebunny/crossref_metadata_2025 huggingface dataset:
Clinical care and rehabilitation of homeless individuals with mental illnesses
Authors: Gowda Guru S. , Kumar Channaveerachari Naveen , Manjunatha Narayana , Math Suresh Bada
Published: January 2022

Homeless mentally ill (HMI) individuals suffer from complex issues. Care for HMI people is an urgent challenge to mental health professionals and is a global problem. Clinical care and rehabilitation of HMI individuals are important and essential with respect to the person’s rights and with regard to ensuring a high-quality healthcare service. The clinical outcomes and rehabilitation of HMI individuals are likely to be influenced by multiple factors such as favourable treatment outcomes, recovery from mental illness, employment, social support, stable housing options, assertive community treatment, integrated physical and mental health services, community-based care, and finally national and local health policies and proactive legislations. Based on the HMI population’s research-driven specific needs, there is a need for developing optimal models of social care and rehabilitation for the HMI individuals in every country. The comprehensive care system for HMI individuals should provide individualized, tailor-made, community-based outreach, based on local and social resources. There is a need for prospective studies for the HMI individuals that can influence public policy. It is important to collaborate with different stakeholders from the community including the public sector, ministries of housing, health, social welfare, labour, women and child development, law and non-governmental organizations, rehabilitation centres, judiciary, and psychiatric facilities to ensure and enhance the quality of services for these very vulnerable individuals.
Psychosocial treatment for homeless with substance use disorders
Authors: Ferreira Isabel Bernardes , Coura Charles Abrantes , Smith Angela Bianco , Gonçalves Priscila Dib
Published: January 2022

The complexity of psychosocial care for the homeless population with substance use disorders starts from its specific characteristics such as extreme poverty, social vulnerability, and being itinerant, as such traits conflict with the bureaucracy of health systems. Treating this population consists of promoting basic self-care that ensures survival and the search for respect and human dignity so that, gradually, the topic of harmful consumption of alcohol and other drugs can be addressed. The interpersonal relations ensure a safe space for dialogue about the problems related to substance use, and the possible decision to stop or reduce their consumption. However, behaviours such as transgression, impatience, and intolerance should be expected when working with this population. This chapter starts with a brief introduction to the homeless population and epidemiological data in Brazil. It then describes some psychosocial approaches that can be used for the homeless with alcohol and substance use, such as harm reduction, contingency management, motivational interviewing, Housing First programmes, assertive community treatment, intersectionality, access, and street clinics. While working with the homeless with substance use disorders, professionals need to adopt a respectful attitude and contribute to the deconstruction of stigmas and prejudices. Also, working with this population means setting short-term goals with low demands. To conclude, it is a priority to ensure social minimums and access to intersectoral policies that promote health and quality of life.
Homeless persons in rehabilitation
Authors: Das Roy Sarbani
Published: January 2022

Recovery-oriented rehabilitation of homeless persons with severe mental illness in the community or institution has been a challenge for service providers across the globe. Chronicity of the illness, along with loss of skill sets, has hindered persons rendered homeless from opportunities for seeking validation in the eyes of society as ‘productive’ members. Through the last decade, Iswar Sankalpa explored diverse recovery options that have helped homeless persons with severe mental illness articulate their aspirations and regain a purpose in their lives. The process has inculcated not only the transfer of a skill set to them but, more importantly, established an ‘affiliative process’ in the community. In this process, proxy families take the role of caregivers, and offer homeless persons with mental illness supportive employment on the streets and communities of West Bengal. The chapter discusses the successes and challenges of odd jobs, training in the confectionary unit in urban Kolkata, and agricultural, farm-based work options in the rural community of Uttar Kashipur, South 24 Parganas district, West Bengal.
Service experiences and perceptions of people experiencing homelessness
Authors: Kerman Nick , Sylvestre John
Published: January 2022

People experiencing homelessness use a range of health, social, and community services to meet their various unmet needs. However, this population also commonly reports negative experiences using services, which can lead to service discontinuation, exacerbation of health problems, and further entrenchment in homelessness. This chapter reviews the research on the factors that contribute to positive and negative service experiences among people who are homeless. Seven categories of factors are identified: (1) accessibility, (2) personal beliefs, (3) organizational policies and procedures, (4) interactions with service providers, (5) sense of safety and welfare, (6) service environment and quality, and (7) outcomes and follow-up. Overall, the evidence suggests that service use for people experiencing homelessness can be a series of challenges and frustrations rather than a straightforward means to better health and housing.
Why and how should we care about homeless youth suffering from severe mental illnesses?
Authors: Abdel-Baki Amal , Morisseau-Guillot Raphaël , Côté Hubert , Deschênes Julie Marguerite , Doré-Gauthier Virginie , Lévesque Isabelle Sarah
Published: January 2022

In homeless youth, severe mental illness is an endemic and a serious issue that profoundly impacts this vulnerable population and warrants specific, comprehensive interventions. This chapter reviews the phenomenon, including the mutual interaction between youth homelessness and severe mental illness, its epidemiology, and its broad psychosocial associated factors. It describes the numerous barriers (such as those associated with homeless youth experiences and characteristics as well as social and health services organization) to mental health services related to suboptimal utilization of existing facilities and shortcomings in accessing them for homeless youth with severe mental illness. The chapter also describes factors facilitating access and summarizes efforts that have been made internationally to address these barriers through a rethinking of services organization and by implementation of specific interventions aimed at homeless youth and related populations with severe mental illnesses.
Key considerations for continuing professional development and specialization
Authors: Neubeck Lis , Jones Jennifer , Uchmanowicz Izabella , Koob Sue , Jennings Catriona , Lira María Teresa , Ingram Shirley , Fitzsimons Donna
Published: January 2022

Nurses are on a lifelong learning journey. The Association of Cardiovascular Nursing and Allied Professions Core Curriculum for the Continuing Professional Development of Nurses Working in Cardiovascular Settings provides a ‘map’ to guide learning. Although there are challenges in defining what a clinical nurse specialist and advanced nurse practitioner are, advanced nursing practice must be ‘grounded in direct care or clinical work’ and requires additional and ongoing education beyond initial qualification. Continuing professional development is essential to increase skills, and is widely endorsed as an essential part of every nurse’s role. It is therefore critical that we work together as a team to best deliver patient- and family-centred care. Nurses exist as part of a skilled transdisciplinary team which is fostered by mutual trust, positive working relationships, and clear roles and responsibilities. Learning in, and on, practice is an important part of professional development. Skilled reflection is important for nurse leaders, who need to be able to reflect on how a team works together to improve patient- and family-centred care. Developing new nursing leaders is critical to the future success of healthcare. It is important for nursing staff at all levels to build effective nursing leadership skills such as team leadership and compassionate leadership, among others, for better clinical care and patient safety outcomes every day in nursing practice. Professional societies and associations such as the Association of Cardiovascular Nursing and Allied Professions provide an important support for lifelong learning and development of core skills.
Nursing assessment and care planning in the context of cardiovascular care
Authors: Lambrinou Ekaterini , Carroll Diane L. , Blanchard Howard T. , Kletsiou Eleni , Astin Felicity , Woolley Alison , Tillman Jo , Leal Ricardo , Cervera-Jackson Rosie
Published: January 2022

Nursing assessment addresses health promotion, prevention of illness, and the nursing care of ill people. It identifies immediate and future responses to potential and actual health problems of the cardiovascular patient. Care planning aims to address problems with collaborative goals identified by the cardiovascular patient. A physical examination is an essential part of comprehensive nursing assessment providing a wealth of information about the patient. The early detection of clinical deterioration is a key component in the care quality and safety agenda. The initial assessment in an acute care setting reviews the reason for seeking care and determines adequate ventilation and perfusion to identify the need for early intervention. Recognition of deterioration using appropriate track and trigger tools outlined in hospital policies allows nurses to identify the need for escalation of care. Timely management of deterioration of patients in emergency situations is facilitated by effective communication with specialist teams with intensive care skills. A comprehensive, holistic assessment using a patient-centred approach is completed after the initial assessment to gather further data for care planning. Nurses use their clinical knowledge and reasoning to make judgements that identify problems that are responsive to nursing care.
Care of the patient with valvular heart disease
Authors: Norekvål Tone M. , Borregaard Britt , Hansen Tina B. , Rasmussen Trine B. , Lauck Sandra B.
Published: January 2022

Valvular heart disease is associated with significant mortality and morbidity, increased symptoms, and poor quality of life, as well as high rates of hospital readmission. There has been a rapid emergence in the past decade of minimally invasive transcatheter options for patients for high surgical risk patients with valve disease. Acquired valvular heart disease is primarily a disease of ageing and requires an understanding of frailty, as well as pathophysiology, screening, and clinical implications. This is a core competency of cardiovascular nurses who provide care to patients with complex valvular heart disease and are also an integral part of a team-based approach which aims to leverage the strengths and skills of its members to optimize the safety and quality of patient care. Endocarditis is an infection of the endocardial surface involving the heart valves and/or surrounding structures typically caused by bacteria. Close monitoring for early signs of disease progression, inadequate infection control, and complications is essential to prevent clinical deterioration. Patients recovering from infective endocarditis will often have been physically inactive for weeks or months due to diagnostic delay, symptom burden, long-term hospitalization, and postsurgical restrictions. The implications of changes in haemodynamics, the trajectory of heart failure, and the variation in clinical presentation across age groups and pathologies create unique challenges. Effective nursing interventions have the potential to optimize outcomes and support patients and their family.
Cardiovascular prevention and rehabilitation
Authors: Jennings Catriona , Berra Kathy , Hayman Laura L. , Gibson Irene , Jones Jennifer , Atrey Alison , Thompson David R. , Ski Chantal F. , Kerins Mary , Conboy Tara , Neubeck Lis , Gallagher Robyn , Koob Sue
Published: January 2022

There is a global imperative for the prevention of cardiovascular disease which includes primordial, primary, and secondary prevention. Prevention requires a multifactor risk reduction approach because of the multifaceted aetiology of cardiovascular disease. Components of cardiovascular disease prevention include behavioural strategies to encourage the adoption of healthy lifestyle habits (abstaining from tobacco, adopting a cardioprotective diet, achieving optimal physical activity and exercise levels, and achieving a healthy body weight and shape), the use of medications to manage biological risk factors, and strategies to manage psychological conditions such as anxiety and depression. Nurses have an important role to play in the implementation of prevention programmes which, when led by this professional group working in interdisciplinary models with physicians and allied professionals, are successful in reducing total mortality. Risk estimation allows the detection of those at highest risk, so they can be identified for management as a priority. Settings for the delivery of prevention and rehabilitation programmes include hospital-based conventional cardiac rehabilitation and initiatives based in primary care and the community. All have been shown to be successful when all of the components described previously are included. Integrating digital technology can address barriers to participation in programmes and improve adherence. Professional societies, associations, and heart foundations play an important role in supporting healthcare professionals, patients, and caregivers to maximize the effectiveness of prevention initiatives.
Pharmacology for cardiovascular nurses
Authors: Keenan Jan , Khatib Rani , McKee Gabrielle , Ruppar Todd , Wilson Franki
Published: January 2022

Pharmacological therapies are the mainstay in the management of primary and secondary prevention of cardiovascular disease. Nurses have an important role in medicines management in collaboration with professional colleagues, particularly physicians and pharmacists. Training nurses in advanced practice skills in relation to medications can improve post-acute event care. Approaches to nursing and allied health professional prescribing are described in three different ways, referred to as ‘independent’, ‘supplementary’, and ‘dependent’ prescribing. Up to half of patients prescribed medication for long-term conditions are not adherent to their prescribed regimen. It is important for nurses to identify the reason for non-adherence before attempting to implement strategies to address it. In cases of intentional non-adherence, it is essential to address patients’ beliefs or concerns, or advocate for the patient to have the treatment plan modified to an approach that fits the patient’s needs. Medications used in cardiovascular care include lipid-lowering agents, anticoagulants, antiplatelets, antiarrhythmics, new drugs to treat diabetes with cardiovascular benefits, drugs used to promote tissue perfusion, drugs that affect the renin–angiotensin–aldosterone system, beta-blockers, calcium channel blockers, and those used in emergencies and cardiogenic shock.
Aortic Aneurysm
Authors: Nienaber Christoph A. , Lachat Mario
Published: January 2022

Aortic aneurysms are defined as the presence of a vascular diameter that exceeds 1.5 times the normal diameter. Aneurysms are often associated with hypertension, smoking, and inherited connective tissue disease. The majority are confined to the abdominal aorta and are of infrarenal location in the overwhelming preponderance of cases. Besides atherosclerotic vascular disease, potential causes include Ehlers-Danlos syndrome, Marfan’s syndrome, and Loeys-Dietz syndrome, as well as Takayasu’s disease and chronic infections, such as syphilis. Complications include compression of surrounding tissue, corrosion of structures, as well as rupture with fatal bleeding. The risk of rupture depends on the diameter and is particularly high at 5.5 cm or higher and in the presence of arterial hypertension in males, as well as in inflammatory processes. Treatment involves surgery, as well as stent graft implantations.
Supraventricular Tachycardia
Authors: Guarguagli Silvia , Ernst Sabine
Published: January 2022

Supraventricular tachycardia (SVT) is an umbrella term used to describe tachycardias which involves atrial or atrioventricular (AV) nodal tissue (or both) for initiation and conduction. SVT can exclusively activate the atria (See Chapter 27: Atrial Tachycardia including Atrial Flutter; this volume), be associated with the conduction system (AV nodal re-entrant tachycardia, AVNRT), or mediated by accessory pathway(s) conduction (AV re-entrant tachycardia, AVRT). By definition, SVT should also include atrial fibrillation (AF) but, considering its own characteristics and incidence, AF is generally considered separately (See Chapter 28: Atrial fibrillation; this volume).
Hypertrophic Cardiomyopathy
Authors: Pantazis Antonis
Published: January 2022

Hypertrophic cardiomyopathy is a myocardial disease that is usually caused by mutations in the genes encoding for contractile proteins of the myocytes (i.e. sarcomeric proteins) leading in most cases to marked myocardial hypertrophy, fibrosis, and supraventricular and ventricular arrhythmias that may trigger cardiac arrest and sudden cardiac death. The diagnosis is commonly made clinically, based on ECG features and with imaging, in particular echocardiography and cardiac MRI. The management involves negative inotropic and chronotropic drugs such as calcium antagonists (diltiazem and verapamil) and beta blockers as well as, in certain cases, with symptomatic left ventricular outflow tract obstruction, catheter-based alcohol-septal ablation, or surgical septal myectomy. To prevent sudden cardiac death ICDs are recommended depending on the risk profile.
Unilateral upper limb plexopathy pain caused by cancer
Authors: Vas Lakshmi
Published: January 2022

This chapter explores the concept that although nerve blocks may have a place in the treatment of upper limb plexopathy, the interventional pain doctor must assess carefully all factors contributing to a patient’s pain and distress. The chapter covers pain relief options such as stellate ganglion block, pulsed radiofrequency (PRF), and ultrasound guided dry needling (USGDN), and finishes with some key learning points for the reader.
Multiple bone metastasis-related incident pain
Authors: Sharma Manohar , Gupta Sanjeeva
Published: January 2022

This chapter focuses on a complex and difficult to manage cancer related pain i.e., incident pain that is brought about by movement; both bone metastasis-related and spinal instability-related incident pain is covered. This chapter includes discussion of various pain relief options, such as percutaneous cervical cordotomy and open surgical cordotomy, thalamotomy, and intrathecal drug delivery system, before concluding with a list of key learning points.
Basic procedure safety and patient considerations for cancer pain interventions
Authors: Datta Samyadev
Published: January 2022

Interventional procedures are an integral part of the options available for management of certain cancer-related pains. This chapter addresses informed consent and informed refusal, surrogate decision-making, and patient preparation and position. Aspects of intervention support such as working with radiology technicians, timeout, and assistance are covered, and the chapter ends with key learning points for the reader.
Radiological tumour ablative techniques
Authors: Sundar Gaurav
Published: January 2022

Thermal ablation can be used in the treatment of liver, lung or kidney tumours and is usually performed with a curative intent; pain relief may be a by-product of such treatment. This chapter discusses the different types of thermal ablation as well as the choices available for both ablation technique and imaging guidance. The chapter also covers various aspects of the procedure process such as patient selection, post-procedural care, and complications, and ends with some key learning points.
Radiofrequency ablation for metastatic spine disease
Authors: Datta Samyadev
Published: January 2022

Targeted radiofrequency ablation (t-RFA) does not cure cancer but is indicated for palliation of painful bony metastases including in the spine. This chapter describes the use of t-RFA of painful vertebral metastasis not amenable to standard care. The chapter covers the types of devices available for t-RFA, considerations for patient selection, and contraindications and complications, as well as a summary of key learning points.
Endocrinology and Evolution
Authors: Danks Janine A. , Richardson Samantha J.
Published: January 2022

Molecular biology advances have assisted comparative endocrinology. Previously the characterization of hormones in ‘lower’ vertebrates relied upon biological assays and protein chemistry, whereas now genes are readily revealed in whole genome sequences, and specific antibodies and other reagents for sensitive assays can rapidly be developed, enabling revealing physiological experiments. Comparative endocrinology only became a special field in the last 50 years as endocrinologists concentrated on rodents as their preferred animal model. In the past many of the known hormones were originally identified in ‘lower’ vertebrates. Two paradigmatic examples of the value of comparative endocrinology will be highlighted. Calcium regulating factors, both hypercalcaemic and hypocalcaemic, will be discussed before thyroid hormones. Both groups of hormones are essential for human life during development and in adulthood, and pivotal insights have been gained from non-mammalian vertebrates.
Hypopituitarism
Authors: Levy Miles J. , Bhake Ragini , Reddy Narendra
Published: January 2022

Hypopituitarism is the consequence of diseases or interventions resulting in deficiency of pituitary hormones. Pituitary hormone replacement is one of the most frequent clinical interventions in pituitary disease, yet is rarely been the subject of rigorous scientific evaluation. With the exception of growth hormone, anterior pituitary hormones are replaced with target hormones (sex steroids, cortisol, and thyroxine), in preference to pituitary trophic hormones, as the former have longer half-lives allowing for oral administration. The precise reason for increased morbidity and mortality associated with hypopituitarism is unclear, but underlines the importance of replacing hormones close to physiological patterns. In an era of ‘evidence-based’ medicine, recommendations are frequently based on clinical experience, consensus guidelines, and retrospective reviews rather than on randomized trials. Within these limitations, this chapter will attempt to give a balanced view on current best practice for replacement therapy in adrenocorticotropic hormone (ACTH), thyroid-stimulating hormone (TSH), and gonadotrophin deficiency.
Pituitary Radiotherapy
Authors: Fersht Naomi , Soldà Francesca
Published: January 2022

Pituitary adenomas are usually benign intracranial tumours accounting for about 10 to 15% of all intracranial malignancies. They are managed with a combination of surgery, medical therapy, and radiotherapy to control symptoms related to mass-effect and hypersecretion of hormones. Trans-sphenoidal surgery is the standard initial approach in the majority of patients and provides long-term local and hormonal control in completely excised lesions. Radiotherapy is indicated in progressive residual and recurrent adenomas, or in lesions not amenable for surgery or medical treatment. Radiotherapy achieves local tumour control rates of over 90% in most series. In secreting tumours, hormonal control is attained after radiotherapy in the majority of patients, independent of the secreting tumour subtype. Modern radiotherapy techniques allow the delivery of an effective therapeutic dose to the tumour while permitting a substantial reduction in the amount of dose to the surrounding healthy brain, limiting the risk of treatment-related long-term complications.
Thyrotropinomas
Authors: Gurnell Mark , Koulouri Olympia , Bashari Waiel
Published: January 2022

Thyroid-stimulating hormone (TSH)-secreting pituitary adenomas (thyrotropinomas) are a rare but important cause of hyperthyroidism. Recent studies point to a higher incidence than previously suspected, with a greater proportion of microadenomas. This is likely to reflect, at least in part, the increased use of combined free hormone and TSH measurements to screen for thyroid dysfunction, coupled with improvements in modern magnetic resonance (MR) imaging. The latter has allowed the detection of smaller tumours, but at the same time carries the risk of identifying pituitary incidentalomas that are then falsely identified as the cause of hyperthyroxinaemia with non-suppressed TSH. Accordingly, a systematic approach (combining clinical, biochemical, radiological, and genetic investigations) is required to ensure a robust diagnosis. For most patients transsphenoidal surgery remains the preferred treatment, with somatostatin analogues (SSAs) used to facilitate safe surgery (by normalizing thyroid hormone levels) and as adjunctive therapy when complete surgical resection is not possible. However, emerging data suggests that primary SSA therapy alone is a reasonable option for some patients. Radiotherapy is generally reserved for aggressive (especially SSA resistant) tumours.
Pituitary Carcinoma
Authors: McCormack Ann
Published: January 2022

Pituitary carcinomas (PC) are very rare, comprising just 0.2% of all pituitary tumours, but have a high mortality rate. Diagnosis of PC requires the documentation of craniospinal or systemic metastases. PC are thought to arise from a multistep genetic progression from a benign pituitary tumour. Certain subtypes of pituitary adenoma, such as silent corticotroph adenoma and plurihormonal PIT-1 positive adenomas, present a higher risk of aggressive behaviour. Clinical features such as the emergence of resistance to medical therapy or rapid tumour growth may also herald malignant transformation. PC frequently have an elevated Ki67 index (>3%), p53 overexpression, and increased mitotic activity, but the prognostic use of these histopathological markers is limited. The management of PC is challenging and requires a multimodal approach involving surgery, radiotherapy, and medical therapy. Temozolomide is used as first-line chemotherapy. Emerging second-line treatments include targeted therapies such as vascular endothelial growth factor (VEGF) inhibition and immunotherapy.
Pineal Physiology and Pathophysiology, Including Pineal Tumours
Authors: Webb Susan M. , Aulinas Anna , Colom Cristina , Barahona María-José
Published: January 2022

Pineal physiology and tumours are briefly summarized in this chapter. The main pineal hormone melatonin is secreted at night and entrains endogenous rhythms to the environment. Melatonin deficiency has been associated to sleeping disorders, behavioural problems, and abnormal puberty, while its excess has been described in hypogonadotropic hypogonadism. Outcome after diagnosis of a pineal tumour have improved in the last decades after better understanding of the natural history of these tumours, neurosurgical experience, use of chemotherapy, and current irradiation techniques. The low prevalence of these pineal tumours has prevented any large prospective multicentre international studies aimed at identifying optimal management. The most recent World Health Organization (WHO) classification of central nervous system tumours published in 2016, defines molecular parameters as well as histology to classify these tumour entities, formulating a molecular diagnosis for these tumours.
Thyroid Function Tests and the Effects of Drugs
Authors: Feldt-Rasmussen Ulla
Published: January 2022

Analytical improvements of thyroid function tests have dramatically improved the management of thyroid disorders. This applies to total and free thyroid hormones, thyrotropin (TSH), relevant antibodies against thyroid antigens (thyroglobulin, thyroperoxidase, and TSH receptor), thyroglobulin, and binding proteins. Despite these improvements there are still many challenges for the clinicians to be aware of while interpreting thyroid function variables. Some are related to thyroid hormones being bound to plasma proteins, all liable to changes by physiological, pathophysiological, and methodological factors. Total hormone concentrations, considered methodologically most robust, become flawed and the active free hormones then most often used. These are also influenced by binding protein abnormalities and other interfering factors (drugs and reagent antibodies), and thus very often puzzle the clinician. TSH methods are more reliable and easier standardized among laboratories, but not sufficient as sole variable of thyroid function. The area still calls for laboratory improvements to aid clinicians.
Epidemiology of Thyroid Disease and Swelling
Authors: Vanderpump Mark P.J.
Published: January 2022

The manifestations of thyroid diseases vary and are determined by iodine intake. Almost one-third of the world’s population live in areas of iodine deficiency. Iodine deficiency is an emerging issue in industrialized countries, previously thought of as iodine sufficient. In iodine-replete areas, most persons with thyroid disorders have autoimmune disease. In women the prevalence of hypothyroidism is 1–2% and hyperthyroidism is 0.5–2%, and both are ten times more common than in men. Approximately 5% of women and 1% of men have thyroid nodules detected clinically and the frequency increases with age and in iodine-deficient populations. Congenital hypothyroidism occurs in one in 3500 to 4000 births and justifies screening in heel-prick blood specimens. A substantial proportion of healthy subjects screened have evidence of mild thyroid dysfunction, with approximately 10% with subclinical hypothyroidism and 1% with subclinical hyperthyroidism. No appropriately powered prospective, randomized, controlled, double-blinded interventional trial for subclinical thyroid disease exists.
Iodine Deficiency Disorders
Authors: Zimmermann Michael B.
Published: January 2022

Iodine deficiency has multiple adverse effects on growth and development due to inadequate thyroid hormone production that are termed the iodine deficiency disorders. The most serious adverse effect of iodine deficiency is damage to the fetus. Iodine deficiency remains one of the most common causes of preventable mental impairment worldwide. Four methods are generally recommended for assessment of iodine nutrition: urinary iodine concentration, the goitre rate, and blood concentrations of thyroid-stimulating hormone and thyroglobulin. In nearly all countries, the best strategy to control iodine deficiency is salt iodization, one of the most cost-effective ways to contribute to economic and social development. When salt iodization is not possible, iodine supplements can be targeted to vulnerable groups. Introduction of iodine to regions of chronic iodine deficiency may transiently increase risk of hyperthyroidism, but this relatively small risk is far outweighed by the substantial benefits of correcting iodine deficiency.
Thyrotoxic Storm
Authors: Wartofsky Leonard , Ylli Dorina , Klubo-Gwiezdzinska Joanna
Published: January 2022

Thyroid storm is a rare presentation of exaggerated manifestations of thyrotoxicosis and represents a complex endocrine emergency with a high mortality rate. Multiple organs are affected leading to multisystemic decompensation. To facilitate early diagnosis, a scoring system has been developed based on thermoregulation dysfunction, central nervous system alteration, gastrointestinal symptoms, cardiovascular involvement, and presence of precipitating event. Treatment delay increases the likelihood of irreversible progression and ultimate demise. Hence, when the diagnosis is likely but indefinite, treatment for thyrotoxic storm should be initiated. Management is based on four main strategies directed to reducing thyroid gland hormone production and release, managing the effects of circulating thyroid hormone in the periphery, addressing the systemic decompensation and the precipitating event.
Subclinical Hypothyroidism
Authors: Vaidya Bijay , Daumerie Chantal
Published: January 2022

Subclinical hypothyroidism is a common condition associated with a raised serum thyroid-stimulating hormone (TSH) but normal serum free thyroxine and triiodothyronine. It is more prevalent in women and people with advancing age. Most patients with subclinical hypothyroidism are asymptomatic. About 2.5% patients progress to overt hypothyroidism annually although the rate of progression is higher in the presence of thyroid autoantibodies. Subclinical hypothyroidism is associated with an increased risk of coronary heart disease, heart failure and cerebrovascular disease in younger patients (<65 years), particularly in those with TSH ≥10.0 mU/L. Currently, there is no randomized controlled trial evidence that levothyroxine prevents these complications, although a large observational study has shown that levothyroxine may reduce the risk of coronary heart disease in younger patients (<70 years). The treatment decision for subclinical hypothyroidism requires careful consideration of the patients’ age as well as the presence of symptoms, thyroid autoantibodies, and cardiovascular risk factors.
Syndromes of Resistance to Thyroid Hormone
Authors: Moran Carla , Gurnell Mark , Chatterjee Krishna
Published: January 2022

Disorders of cellular uptake, metabolism, or action of thyroid hormones comprise syndromes of resistance to thyroid hormone. Reduced entry of thyroid hormones into the central nervous system via a membrane transporter mediates severe mental and psychomotor retardation associated with peripheral hyperthyroidism. Failure of selenocysteine incorporation into 25 different proteins results in a multisystem, selenoprotein deficiency, disorder associated with abnormal thyroid function due to impaired activity of deiodinase selenoenzymes. Resistance to Thyroid Hormone β, due to thyroid hormone β receptor mutations, is characterized by elevated circulating thyroid hormones, impaired feedback inhibition of thyroid-stimulating hormone (TSH) secretion and variable hormone resistance in peripheral tissues. Thyroid hormone receptor α defects cause resistance to thyroid hormone α, characterized by features of hypothyroidism in specific tissues but paradoxically associated with near-normal thyroid hormone levels. We describe the genetic basis, clinical features, pathogenesis, and management of these disorders.
Pathology of Thyroid Cancer
Authors: Basolo Fulvio , Ugolini Clara
Published: January 2022

Thyroid malignant lesions include a heterogeneous group of pathologies with different origins, different morphological aspects, and different outcomes. They can originate from follicular cells or from parafollicular C cells. Papillary and follicular thyroid carcinomas arise from follicular cell while medullary cancer develops from the C cell. Papillary cancer can show several variants with different morphological aspects. The most frequent are the classical variant with a typical papillary growth pattern and the follicular variant with an exclusive follicular growth pattern. The different variants show common cytological and nuclear features fundamental for diagnosis of papillary thyroid carcinoma. Follicular carcinoma may present minimal or wide invasion. The widely invasive follicular carcinoma can invade extrathyroidal tissues and organs showing a poor outcome. Other thyroid tumours, like poorly differentiated and anaplastic cancer, show marked cellular anaplasia and atypia, vascular and extrathyroidal tissue invasion, and a very poor prognosis. Fine needle aspiration cytology is the election analysis for preoperative diagnosis of thyroid cancer.
Genetics of Phaeochromocytomas, Paragangliomas, and Neuroblastoma
Authors: Maher Eamonn R. , Casey Ruth T.
Published: January 2022

Phaeochromocytomas, paragangliomas, and neuroblastomas are the main primary tumours that arise from the autonomic nervous system. The autonomic nervous system is subdivided into the sympathetic and parasympathetic systems. Phaeochromocytomas arise from sympathetic nervous system (chromaffin) cells in the adrenal medulla. Paragangliomas may arise from the sympathetic or parasympathetic system. The former, previously known as extra-adrenal phaeochromocytomas but referred herein as paragangliomas, typically occur along the sympathetic chain and, like phaeochromocytomas, are usually secretory and most commonly present with symptoms of excess catecholamine secretion. Parasympathetic ganglia-derived paragangliomas (herein referred to as head and neck paraganglioma, HNPGL) develop along branches of the vagal and glossopharyngeal nerves (e.g. carotid body tumours, glomus jugulare) and are only rarely secretory. Phaeochromocytoma, paraganglioma, and HNPGL are rare in childhood but neuroblastomas, which are derived from neuroblasts in the developing sympathetic nervous system and are most common in children under the age of 5 years. Familial forms of neuroblastoma are rare but a major feature of phaeochromocytoma and paraganglioma (PPGL) and HNPGL is the high frequency of inherited cases and the major inherited syndromic and non-syndromic disorders that predispose to these tumours are described in Chapter 6.13.
Molecular and Clinical Characteristics of the McCune–Albright Syndrome
Authors: Levine Michael A. , Lietman Steven A.
Published: January 2022

The McCune–Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, café-au-lait pigmented skin lesions, and endocrinopathy. MAS is due to postzygotic mutation of the GNAS gene that leads to activation of Gαs, the alpha chain of the heterotrimeric G protein, Gs. Cells that carry the activating GNAS mutation, termed gsp, are distributed in a mosaic pattern, and the extent of the distribution of mutation-bearing cells is based on the timing of the mutational event. Thus, gsp mutations that occur late in development can cause mono-ostotic fibrous dysplasia or an isolated endocrine lesion, whereas earlier mutational events lead to widespread distribution of lesional cells and MAS. Molecular studies now enable the detection of somatic GNAS mutations in circulating cells from most patients with MAS as well as many patients who have only one affected tissue, and therefore diagnosis of MAS continues to rely upon clinical assessment.
Neuroendocrinology of Reproduction
Authors: McCartney Christopher R. , Marshall John C.
Published: January 2022

Gonadotropin-releasing hormone (GnRH)-secreting neurons represent the final common pathway for central neuroendocrine control of reproduction. Pulsatile GnRH secretion from the hypothalamus governs luteinizing hormone (LH) and follicle-stimulating hormone (FSH) release from pituitary gonadotropes, which subsequently directs ovarian function. Higher-level afferent inputs (e.g. neurons releasing kisspeptin, neurokinin B, and dynorphin) substantially impact GnRH neuron function and largely mediate sex steroid negative feedback and the reproductive effects of altered nutrition, physiological stress, and lactation. These complex hypothalamic–pituitary–ovarian interactions achieve ovarian follicular development; episodic presentation of ova for possible fertilization (ovulation); and physiological preparation for possible pregnancy (e.g. endometrial decidualization).
Ovarian and Uterine Development from Fetal Life to Puberty
Authors: Piltonen Terhi , Tapanainen Juha
Published: January 2022

Human fetal organogenesis is a complex process starting 4 weeks post conception. The gender specific gonads can be distinguished as early as by the GW 8 and the process is driven by the sex determining region on the Y-chromosome (SRY) among other genes that drive fetal testosterone and AMH effects. In the absence of anti-Müllerian hormone (AMH) the Müllerian ducts will develop to uterus and fallopian tubes, and without androgen influence the urogenital sinus will form as female external genitalia. Ovarian primordial follicles reach the highest number of 7 million around mid-gestation after which the number starts to decrease by means of apoptosis and only 2 million primordial follicles are left at the time of birth and less than half of million at puberty. The pituitary–ovarian axis of the fetus is activated at mid-gestation, after which levels of gonadotropins decrease towards the term, and become activated again after birth resulting in minipuberty. The quiescent period in gonadotrophins and sex steroid production remains during childhood ends before puberty as a consequence of maturation of the hypothalamus–pituitary–ovarian axis. During reproductive life around 400 follicles will ovulate with concomitant decrease of follicle pool through apoptosis. The follicle reserve is exhausted around the age of 50 years resulting into menopause.
Laboratory Evaluation
Authors: Dumesic Daniel , Al-Safi Zain
Published: January 2022

A variety of laboratory assessment and imaging studies can be ordered to guide the management of patients with suspected endocrine abnormality. These are selected based on the clinical presentation. In this chapter, we thereby classify them into hormonal evaluation (e.g. β-hCG, oestradiol, progesterone, LH and FSH, androgens (testosterone, DHEAS), 17 α-hydroxyprogesterone (17 OHP), prolactin, growth hormone, anti-Mullerian hormone (AMH), thyroid hormone, cortisol), imaging studies (e.g. head, ovarian, adrenal, bone density, and thyroid), and other assessments (e.g. karyotype, fragile X testing, autoimmune testing, insulin resistance testing) that are helpful in diagnosing these conditions and evaluating for other associated abnormalities. A full references list and illustrative tables provide further reading and information.
Polycystic Ovary Syndrome
Authors: Mumusoglu Sezcan , Yildiz Bulent Okan
Published: January 2022

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder affecting 6–10% of the reproductive age women worldwide. It is a complex multifactorial syndrome with polygenic inheritance and epigenetic alterations. PCOS is characterized by clinical and/or biochemical hyperandrogenism (HA), ovulatory dysfunction (OD), and polycystic ovarian morphology (PCOM). Different sets of diagnostic criteria are available, and the syndrome could present with various phenotypes. Therefore, diagnosis of PCOS is a challenge for clinical practitioners and researchers alike. Accurate and early diagnosis is essential in women with PCOS, in order to address presenting complaints and prevent long-term health consequences of the syndrome. This chapter outlines definition, clinical features, diagnosis, clinical features, phenotypes, prevalence, and genetics of PCOS.
Polycystic Ovary Syndrome
Authors: Ehrmann David A. , Sam Susan
Published: January 2022

Insulin resistance is common among women with PCOS independent of adiposity. However, the severity of insulin resistance in these women worsens with obesity especially in those who present with the classical phenotype of PCOS (NIH criteria) consisting of hyperandrogenism and menstrual irregularity. Hence, obese women with PCOS, especially those with the classic phenotype of PCOS, are at high risk for metabolic complications. These complications include type 2 diabetes (DM2), metabolic syndrome, dyslipidaemia and obstructive sleep apnoea (OSA). Additionally, these women are at increased risk for cardiovascular disease even though the exact risk for this complication is not established. Due to heightened risk for metabolic disorders, close screening and follow-up for development of glucose intolerance, metabolic syndrome, and OSA is essential and is supported by current guidelines. Management of women with PCOS is individualized and should depend on the patient’s symptoms as well as their risk for development of various complications.
Polycystic Ovary Syndrome
Authors: Pignatelli Duarte , Azziz Ricardo , Yildiz Bulent Okan
Published: January 2022

Hirsutism is defined as excess growth of body or facial terminal (coarse) hair in females, in a male-like pattern. In addition to its possible association with conditions such as polycystic ovary syndrome (PCOS) and the associated risk of cardiometabolic diseases and infertility, hirsutism has a significant negative impact on a woman’s self-esteem and on her quality of life. Hirsutism affects 5–15% of the women, and is the most commonly used clinical diagnostic criterion of androgen excess or hyperandrogenism. Depending on age and race/ethnicity, 80–90% of women with hirsutism will have an androgen excess disorder, most often PCOS, but also non-classic congenital adrenal hyperplasia (NCAH), and androgen-secreting neoplasms, among others. Current treatment of hirsutism may consist of: suppression of androgen production; blockade of peripheral androgen action; and mechanical and cosmetic means of hair removal. This chapter outlines androgen metabolism in women, physiology and pathophysiology of hair growth, epidemiology of hirsutism and differential diagnosis of its multiple aetiologies, and the clinical investigation, and treatment of the hirsute patient.
Exogenous Factors and Female Reproductive Health
Authors: Diamanti-Kandarakis Evanthia , Kandaraki Eleni A.
Published: January 2022

Endocrine disruptors (EDCs) and glycotoxins or advanced glycosylated end products (AGEs) have raised one of the most controversial environmental question of recent decades that requires urgent answers, since there is now better appreciation that both AGEs and EDCs exposure from food, depends on methods of food processing packaging and nutrient composition. The Western diet and lifestyle can be a significant environmental source of these toxicants that are potentially involved in the pathogenesis of female reproductive axis deregulation. Acute or prolonged exposure to EDCs and AGEs through different life cycle stages may result in destabilization of the hormonal homeostasis and lead to disruption of reproductive functions. Extensive data from different scientific models, collected in recent years, have confirmed their negative role. Therefore, strategies and strong recommendations should be targeted to reduce human exposure in order to protect current as well as next generations from steadily rising adverse health effects.
Adrenal Disease in Pregnancy
Authors: Torpy David J. , O’Reilly Michael W. , De Sousa Sunita M.C.
Published: January 2022

Diagnosis of adrenal gland dysfunction in pregnancy is complex, and confounded by physiological gestational changes in maternal adrenal hormone metabolism. Management of newly diagnosed or pre-existing adrenal disease in pregnant women requires intensive input from the endocrinologist, and close collaboration with the obstetrician or fetal medicine specialist. Maternal adrenal gland dysfunction during pregnancy encompasses adrenocortical disorders resulting in glucocorticoid and mineralocorticoid deficiency or excess, and medullary disease resulting in catecholamine excess. The aim of this chapter is to review clinical aspects of the most common adrenal disorders in pregnancy, and to discuss approaches to diagnosis and management. Both benign and malignant diseases of the adrenal cortex and medulla will also be discussed.