Human Diseases and Conditions Collection – serie

Cystic fibrosis (CF) is one of the most common genetic diseases, affecting about 70,000 people throughout the world, with over 1,000 new cases diagnosed each year. This book describes the symptoms of CF including lung disease, digestive problems, pancreatic insufficiency, liver disease, intestinal obstruction, and infertility. It explains how CF is caused by mutations in the CFTR gene encoding a protein ion channel that maintains the balance of salt and water in the lungs and other organs. The book presents CF as an autosomal recessive disease that can arise in families with no prior history of CF. The reader will learn about treatments and therapies for CF, including antibiotics for infections, medicines for improved digestion, respiratory therapy, and pancreatic enzyme replacement. The book describes promising new pharmaceutical discoveries that enable personalized medicine for the treatment of CF. It evaluates the prospects for curing CF through gene therapy and explains how genome editing may be used in the future to correct the CFTR gene mutations underlying CF.

This book is an overview of autism spectrum disorder (ASD), an early childhood condition that affects 1 in 68 children in the United States, and an estimated 1 to 2 percent of children worldwide. ASD causes impaired social skills, communication problems, and repetitive behaviors. The severity of ASD symptoms varies widely, ranging from mild effects with minimal impacts on functionality to severe effects that interfere with functionality and can prevent independent living. ASD is a complex trait disease caused by mutation of multiple ASD susceptibility genes, but it also occurs as part of monogenic genetic syndromes. Genetic testing for ASD is described in the book, and examples of ASD susceptibility genes. No treatments are available for the core symptoms of ASD, but the book describes therapies and drug treatments that can modulate them and address some of the health complications of ASD. The book presents new ASD biomarkers that can be used for better diagnosis and explores the hopeful prospect of personalized medicine for ASD.

This book presents Down syndrome, which is the most common chromosomal disorder in humans, occurring at a rate of about 1 in 700 births. It describes the characteristic physical features caused by Down syndrome and the myriad of symptoms and health complications it brings, including heart defects, congenital vision and hearing loss, abnormalities of the musculoskeletal system, digestive problems, epilepsy, leukemia, an increased risk of infectious disease, dementia, and intellectual disability. Readers will learn about methods by which Down syndrome can be diagnosed prenatally or at birth, and the cause of Down syndrome as extra copies of the approximately 250 genes on chromosome 21. The book describes treatments and therapies for Down syndrome, and approaches to the education of children with it. Future prospects for the diagnosis and treatment of Down syndrome are presented, including experimental drugs, stem cell therapies, a process by which embryos produced in a clinical laboratory can be screened for Down syndrome before being used to establish a pregnancy, and several Down syndrome gene therapy strategies.

Hemophilia is a genetic disease that impairs the normal process of blood clotting and results in uncontrolled external and internal bleeding. The reader of this book will learn how a diagnosis of hemophilia is made by blood clotting tests and measurements of clotting factor levels in blood. The book describes how hemophilia A and B are caused by mutations in genes that encode clotting factor VIII and clotting factor IX, respectively, both of which are carried on the X chromosome. As a result, almost all children born with hemophilia A and B are boys. Hemophilia C is caused by mutations in the clotting factor XI gene on chromosome 4, and occurs in males and females with equal frequency. The author details the use of factor replacement therapy to treat hemophilia, and evaluates the prospects for curing hemophilia through gene therapy and genome editing.

This book describes Huntington's disease (HD), a rare neurodegenerative genetic disorder that causes a triad of motor, cognitive, and psychiatric/behavioral symptoms and affects about 6 in 100,000 people worldwide. Although the age of onset of HD symptoms is usually 30 to 50 years, a rare juvenile-onset form of HD also occurs. The autosomal dominant pattern of inheritance followed by HD is illustrated in the book with pedigree scenarios. The author details how mutations in the HTT gene on chromosome 4 cause HD and how a genetic test can be used by people who might have inherited adult-onset HD and couples who are at risk for passing HD on to their children. The book describes the available treatments for HD and presents new approaches such as experimental drugs, stem cell therapy, and gene therapy that might be able to effectively treat or even cure HD.

This book presents muscular dystrophy (MD) as a group of genetic diseases with a worldwide occurrence of about 1 in 3,500 births that causes muscle wasting and weakening.It describes Duchenne MD as the most common type of MD, almost exclusively affecting males at a rate of about 1 in 5,000 boys, and eight rarer types of MD that are categorized by age of onset, muscles affected, disease progression, severity of symptoms, and health complications. The author describes how physical examination, muscle biopsy, medical imaging, and genetic testing is used to diagnose MD He further explains the underlying causes of the various types of MD as mutations in genes that encode proteins needed for the development, function, maintenance, and replacement of muscle cells and illustrates patterns by which they are inherited.There is no treatment that can reverse the progressive deterioration of muscles caused by MD, but the book offers insight into drug treatments and physical therapies that help maintain muscle strength and reduce health complications. It concludes with explanations of promising new ways to treat or perhaps cure MD, including experimental drugs, stem cell therapy, and gene therapy.

This book describes newborn screening as a public health program for the early detection of genetic disorders.It presents the recommended uniform screening panel (RUSP), a list of genetic disorders recommended by the U.S. government for states to include in newborn screening programs. The author describes the categorization of RUSP genetic disorders, discusses the symptoms and health complications of examples from each category, and explains clinical laboratory tests used for newborn screening. The book explores the underlying molecular genetic causes of genetic disorders, and how this information is used for genetic testing during newborn screening and diagnosis. It presents the patterns of inheritance of monogenic genetic disorders, and uses hypothetical family scenarios to illustrate them. Treatments and therapies for selected RUSP genetic disorders are described that illustrate the benefits of early diagnosis. The book describes future prospects for the prevention, diagnosis, and treatment of genetic disorders detected by newborn screening, including experimental drug treatments, the possibility of newborn genome sequencing, and gene therapy.

This book describes how obesity results from an imbalance between the intake of food energy and the expenditure of energy from physical activity and increases the risk of serious health problems including heart disease, stroke, osteoarthritis, and several types of cancer.Obesity is a global health problem that has reached epidemic levels. The worldwide prevalence of adult obesity is 13 percent of adults and 7 percent of children. The author explains how body mass index (BMI) can be used to screen for obesity, but that its diagnosis depends on clinical measurement of total body fat content and distribution. The book describes rare forms of obesity caused by a single gene or a genetic syndrome, and common obesity, a complex disease caused by multiple genetic and environmental risk factors. The book presents examples of obesity susceptibility genes and describes obesity genetic testing. It details how obesity can usually be treated with dietary changes, increased physical activity, and behavioral modification, but that people with extreme obesity or those who have serious health complications, require pharmaceutical or surgical interventions. Dr. Eckdahl discusses promising prospects for the treatment of obesity involving new pharmaceuticals, stem cell therapy, gene therapy, and fecal microbiota transplants.

This book presents examples of hereditary blindness and deafness that illustrate the large variety of genetic diseases that affect vision and hearing. It describes seven hereditary eye diseases, three genetic syndromes that cause deafness, and four types of nonsyndromic deafness. The author explains the diagnosis of hereditary blindness and deafness in children and adults and describes the patterns of inheritance of blindness and deafness, illustrating each with family scenarios. The practice of genetic testing is described, which can provide information that prospective parents can use to make reproductive decisions. The text also presents treatments and therapies for hereditary blindness and deafness such as hearing aids, cochlear implants, and corneal implants. It describes future prospects for diagnosing, treating, and curing hereditary blindness and deafness, including experimental drugs, stem cell therapy, preimplantation genetic diagnosis, and gene therapy.

Sickle cell disease (SCD) is the most common genetic blood disorder in the world. Millions of people in the world have SCD and about 300,000 babies are born with it each year. Readers will learn about the major symptoms of SCD, including chronic anemia, delayed growth, spleen dysfunction, opportunistic infections, vision loss, leg ulcers, stroke, and heart problems. The book explains how the primary cause of SCD is a gene mutation that causes hemoglobin to polymerize in red blood cells, making them adopt an abnormal sickle shape. Sickled cells carry less oxygen and occlude blood vessels in tissues and organs throughout the body. The reader will learn how SCD is inherited and how genetic testing can provide information that prospective parents can use to make reproductive decisions. The book presents treatments for SCD such as pain medications, antibiotic therapy, blood transfusions, and bone marrow transplantation. Future prospects for diagnosing, treating, and curing SCD are evaluated, including maternal blood screening, preimplantation genetic diagnosis, gene therapy, and genome editing.

Most people have heard of senility, dementia and Alzheimer's disease, but how different are these conditions? Whenever memories begin to fail later in life, Alzheimer's is a concern. Some people worry because their parents are not remembering a birthday, or a trip to the store. We all have our moments, right? But the idea of having Alzheimer's disease, and the reaction to this possibility, is usually one of fear and some confusion. Understanding disease progression is critical and new research has given us valuable information about symptoms, how symptoms progress, and how they relate to cellular dysfunction of the neurons involved. This book describes Alzheimer's as a progressive dementia, where neural function is impaired and atrophy of the brain occurs. Symptoms go beyond those mental and behavioral changes associated with normal aging. The region of the brain affected first is the hippocampus, which is critical for memory and higher order thinking, giving rise to classic Alzheimer's symptom of memory loss. Although we understand how early diagnosis influences treatments and outcomes, we don't know what causes Alzheimer's disease and there is no cure. Future treatments for Alzheimer's are promising as researchers work to understand the events that convert the normal balance of repair and function in the brain to a pathology that robs someone of their memories.

Amyotrophic lateral sclerosis, ALS, is a common form of motor neuron disease that involves a loss of function in upper and lower motor neurons. ALS causes a progressive loss of muscle function that frequently initiates in the limbs, called limb-onset ALS, or initiates in facial muscles, called bulbar-onset ALS. This book describes the current understanding of ALS symptoms, diagnosis, causes, and treatments. Initial symptoms vary in type of muscle dysfunction, intensity of symptoms, and speed of disease progression. Diagnosis requires loss of function in both upper and lower motor neurons for limb- and bulbar-onset ALS, distinguishing ALS from other neuromuscular diseases. Although no cause or initial trigger has been determined for ALS, eventually both limb and bulbar muscles will show dysfunction as the disease progresses. In later stages of the disease, muscle dysfunction typically leads to respiratory failure and death. Management of neurotransmitter levels in patients can prolong life by months, but no cure exits for the disease. Other treatments exist that can help patients manage muscle weakness or spasms as the disease progresses. The book concludes by considering future detection, treatment, and diagnostic approaches with the goal of preventing disease initiation or progression.

The human body is protected in critical ways as our immune system provides protection from a broad spectrum of infections and injuries. Unfortunately, in some individuals, their immune system targets components of their own bodies, causing autoimmune disease. Many different types of autoimmune diseases exist, each presenting unique symptoms depending on the body system that is damaged. It is not clear what triggers the progression from normal immune reactivity to autoimmune disease, though both environmental and genetic factors are thought to contribute. This book focuses on three distinct examples of autoimmune disease or reactivity: multiple sclerosis, which involves an autoimmune response against structures that support neurons, rheumatoid arthritis, resulting from autoimmune-dependent damage to joints, and organ or graft rejection, which occurs when the immune system recognizes tissues from another individual as foreign. In each case, we consider current and future issues related to disease progression, diagnosis, and treatments.

Infectious diseases caused by bacteria and viruses exist in many forms and significantly affect human health. The sources of infectious diseases are vast, but in most cases arise from infectious microorganism such as bacteria or viruses that are able to establish growth or replication in humans, harming specific systems of the human body. This book introduces the reader to the basic differences between bacteria and viruses, particularly focusing on structures that contribute to the infectious properties of the microorganism. Chapters describe the cause, mode of transmission, symptoms, and treatments of five important diseases, taking into consideration the molecular interactions between host cells and infectious agents. Specifically, examples of viral infection (Influenza caused by the Influenza virus and hemorrhagic fever caused by the Ebola virus) and specific examples of bacterial infections (salmonellosis caused by Salmonella, gastrointestinal disease caused by Shiga-like toxin E. coli, and tuberculosis caused by Mycobacterium tuberculosis) are discussed in each chapter. The book ends with some future work related to treatment of these critical infectious diseases, noting the importance of drug resistance of infectious agents in treatment regimens.

In life-threatening forms of cancer, cells stop working correctly, grow, divide, and spread throughout the body in harmful ways.  These diseases impact the lives of many people, directly for those diagnosed and indirectly for the friends and families of those diagnosed.  So many distinct forms of cancer with multiple unique diagnostic tools and approaches to treatment can be overwhelming for those diagnosed and those supporting them.  Historical struggles with cancer can create a hopeless perception of disease prognosis, but advances in cancer diagnosis and treatment mean that many cancers can be well managed and even cured. This book discusses four types of cancer: skin, lung, breast, and prostate cancer.  Wrestling with a diagnosis of one of these cancers can be complicated by the variety of treatment choices available and the unique medical history associated with both the patient and the cancer.  The complexity of diagnosis and treatment requires that each cancer be considered a distinct disease, with some underlying common features. The author describes these common features and then discusses each cancer in terms of symptoms, diagnosis, causes, treatments, and future advances.

This book describes the current understanding of symptoms, diagnosis, mode of transmission, and treatments of four important intestinal diseases, taking into consideration the molecular interactions between host cells and infectious agents.Intestinal diseases are a significant health issue worldwide, with varying causative infections resulting in symptoms that range from mild or asymptomatic to death within hours. Understanding the cause of the different forms of intestinal disease is a critical aspect of proper management of these diseases that can save lives. This book describes the current understanding of symptoms, diagnosis, mode of transmission, and treatments of four important intestinal diseases, taking into consideration the molecular interactions between host cells and infectious agents. Specifically, dysentery caused by infection with Entamoeba histolytica, giardiasis caused by infection with Giardia, shigellosis caused by infection with Shigella, and cholera caused by infection with Vibrio cholera, are discussed in each chapter.The author also discusses future work related to prevention and treatment of these critical infectious diseases, given that the eradication of these diseases is unlikely. Awareness of how these diseases are spread and how they can be contained is a growing public health concern, particularly after natural and human-made disasters where public hygiene may be compromised.

The importance of meeting the dietary needs of individuals is critical for good health. This requires educating individuals so that they understand how to best obtain important nutrients and that quality foods rich in these nutrients are accessible to the increasing world population. Many diseases can arise from nutrient deficiencies and toxicities, including rickets, scurvy, and spina bifida, resulting from deficiencies in vitamins D, C, and B, respectively. It is also possible to ingest materials in the diet that can cause disease, such as lead, which results in lead poisoning. In each case, the imbalance of appropriate nutrients leads to an imbalance of vitamin and minerals, causing defects in critical enzyme function in the body. In some cases, the uptake of nutrients is healthy, but the body is unable to breakdown or utilize the nutrients. In each of these instances, disease initiation or progression is preventable through control of diet.Symptoms will be discussed as they impact normal cellular and organ function in the body and are related to nutrient availability. This book will evaluate the prospects for improved preventative approaches and treatments for established diseases and will conclude with a summary and points toward future prevention of these diseases.

Vector borne diseases transmitted through ticks and mosquitos cause serious loss of life and significantly impact human populations worldwide. Each of these diseases is caused by a distinct pathogen, and symptoms vary depending on the type and severity of infection. The spread of these diseases occur through the blood meals of tick or mosquitos, where the pathogen gains access to the human body, usually triggering an immune response that contributes to disease progression. Understanding the interdependence of pathogen to disease vector along with transmission route to humans shapes our diagnosis and treatment of these diseases. This book focuses on five distinct examples of vector borne disease: Malaria, West Nile, Lyme disease, dengue fever, and bubonic plaque. Malaria involves the mosquito vector and occurs when mosquito transmit the Plasmodium parasite to humans. West Nile and dengue fever also involve different mosquito vectors, but in this case transmission of the West Nile virus or dengue fever virus cause disease. Fleas transmit the bubonic plague causing bacterium Y. pestis. Lyme disease results from the transmission of the bacteria Borrelia burgdorferi to humans through the bit of a tick. In each case we consider current and future issues related to disease progression, diagnosis, and treatments.

Acquired immunodeficiency syndrome, or AIDS, is a disease of the immune system that is caused by the human immunodeficiency virus (HIV). AIDS has caused significant loss of life with considerable social and economic consequences worldwide. HIV must infect a host cell in order to replicate, and once infected, the host cell is unable to function properly. Since HIV infects specific cells of the host immune system, HIV infection impairs the ability of the patient to fight infections and kill cancer cells, therefore most deaths associated with HIV infection occur due to cancer or opportunistic infections. There is no cure for HIV, but advancements in treatments mean that an HIV positive person could experience a normal lifespan with sustained daily care and medication designed to prevent HIV replication and spread. These medications primarily target viral proteins that allow HIV to infect host cells, replicate, and spread in the body. Work continues to find a way to eliminate HIV from patients and develop new pharmaceutical targets to address concerns of drug resistant strains of HIV. Worldwide awareness of how the virus infects, is treated, and spreads within populations is a critical component to control the current AIDS pandemic.

Vaccinations provide an effective way to prevent fatal diseases or reduce their symptoms. This book highlights four infectious diseases: polio, tetanus, measles, and mumps. These four diseases are very harmful to human health and are difficult to treat after the infection because they are caused by a toxin or pathogenic virus. In all four cases, the disease exhibits different modes of transmission and progression of symptoms, which require unique treatment regimens. However, all cases can be prevented by vaccinations administered prior to infection.This book summarizes the symptoms and disease progression of all the four diseases and provides information about the toxin or virus that causes each disease. The ability to harness our immune system through vaccination is discussed in the context of disease prevention. Minor and infrequent risks associated with vaccination are also described, but the very dangerous misconception that vaccines cause autism or other major illnesses is strongly refuted.