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An increase in pulse and respiration follows the rise in metabolism as a result of an increase in body temperature. The hypothalamus then activates the sympathetic branch of the autonomic nervous system to stimulate increased muscle tone and shivering and decreased perspiration and blood flow to the periphery. As the set point is raised, the hypothalamus signals and increases in heat production and conservation to raise the body temperature to the new level. The shivering response is the body?s method of 37 Pathophysiology raising the body?s temperature until the new set point is attained. This seeming paradox is dramatic: the body is hot yet an individual piles on blankets and may go to bed to go warm. When the circulating body temperature reaches the set point of the core body temperature, the chills and warmth- seeking behavior cease. The febrile response is classified into four stages: Prodromal, chill, flush and defervescence. Beneficial aspects of fever include increased killing of microorganisms, increased phagocytes by neutrohils, and increased proliferation of T cells. Higher body temperature may also enhance the activity of interferon, body?s natural virus- fighting substance. Types of Inflammation 39 Pathophysiology the basic types of inflammation are acute, sub- acute, and chronic. In acute inflammation the healing occurs in 3 to 3 weeks and usually leaves no residual damage. For example, infective endocarditic is a smoldering infection with acute inflammation, but it persists throughout weeks or months. The predominate cell types at the site of inflammation are lymphocytes and macrophages. The prolongation and chronicity of any inflammation may be the result of an alteration in the immune response. Regeneration is the replacement of lost cells and tissues with cells of the same type. Repair is healing as a result of lost cells being replaced by connective tissue of different origin. Stable cells retain their ability to regenerate but do so only if the organism injured. Primary Intention Primary intention healing takes place when wound margins are nearly approximated, such as in a surgical incision or paper cut. In some instances a primary lesion may become infected, creating additional inflammation. Healing and granulation takes place form the edges inward and from the bottom of the wound upward until the defect is filled. Tertiary intention Tertiary intention (delayed primary intention) healing occurs with delayed suturing of a wound in which two layers of 44 Pathophysiology granulation tissue are suture together. This occurs when a contaminated wound is left open and sutured closed after the infection is controlled. It also occurs when a primary wound becomes infected, is opened, is allowed to graduate, and is then sutured. Tertiary intention usually results in a larger and deeper scar than primary or secondary intention. Bone healing occurs in a similar manner with soft tissue healing, but it is however more complex and takes longer time. Although the exact mechanism is controversial; the following five stages are identified:- 1) Stage of Hematoma Formation:- - Occurs during the first 48-72 hours following fracture. Then bone calcifies as mineral salt deposit to form true callus in 3-4 weeks time. B: - Function usually returns after six months after union, and complete function may take longer time. Factors that determine degree of fracture healing are classified as local factors and those factors specific to the patients: - 1) Local Factors: - - Nature of injury o Edematous.

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The review is considering how to incorporate the newer agents available on the market. Additionally, when analysing combination therapies used in current suggested algorithms for management of hyperglycaemia, high-quality trials in positive outcome beneft are lacking. Algorithm for lowering glucose in type 2 diabetes 48 General practice management of type 2 diabetes General practice management of type 2 diabetes 49 In practice Beginning glucose-lowering therapy Healthy eating, exercise and education remain the foundation of any type 2 diabetes treatment program. If lifestyle modifcation is not effective in controlling hyperglycaemia, metformin is the frst choice unless contraindicated or not tolerated. Second-line agents (added to existing metformin) may be necessary and should be chosen using an individualised approach, noting that agents work in different ways and are chosen to work synergistically. While these guidelines recommend a stepwise approach to the management of type 2 diabetes, glycaemic management has become more complex with an increasing range of medications now available. There are uncertainties about the effects of various therapies on macrovascular events, a lack of data regarding long-term outcomes with newer agents and potentially serious adverse outcomes associated with some medications. Unfortunately a simple stepwise algorithm does not neatly match individualised patient needs. The European/American position statement76 gives patient options depending on choices such as effcacy, risk of hypoglycaemia, major side effects, weight gain and costs but unfortunately does not address the lack of outcome data on individual choices of glycaemic agents. Start with the correct dose of each medication and review at least every 3 months with the patient?s individual HbA1c target. This is especially relevant for patients who achieve lifestyle changes and are on sulphonylureas or insulin. People taking sulphonylureas or insulin may need to notify motor vehicle licensing authorities and their insurance company as these medications can affect driving performance (see Section 14). Rapid-acting insulin and other long-acting insulin analogues offer little beneft relative to conventional insulins in terms of glycaemic control in type 2 diabetes. A meta- analysis demonstrated reduced hypoglycaemia for glargine insulin when compared to isophane insulin. Further long-term, high-quality prospective studies on long-term macrovascular complication reduction are needed for insulin analogues. Surrogate markers such as HbA1c may not necessarily equate with longer term, clinically signifcant benefts. The use of insulins, although improving glycaemic control, is associated with increased risks of hypoglycaemia and weight gain. Rare side effects of insulin therapy Observational studies have reported a number of rare adverse events associated with insulin use, including congestive heart failure, oedema, lipodystrophy, allergic reactions, reversible transaminitis, reversible nephrotic syndrome and? General practice management of type 2 diabetes 51 Early insulin intervention Short-term studies on early intervention with insulin in newly diagnosed type 2 diabetes have shown remission rates of diabetes of 42% at 24 months after therapy initiation. However, the absence of long-term studies on patient satisfaction and complication prevention does not support this as standard therapy in general practice. Insulin delivery options A range of devices are available to deliver insulin, including insulin pens, insulin syringes and insulin pumps. Insulin injectors (pens) are the most common way of administering insulin as they make multiple daily injection schedules much easier and allow people to be more fexible in their self-management. Older people may fnd the ?InnoLet? injector easier to use because it is larger and has more visible markings. Insulin pumps have traditionally only been used in the management of type 1 diabetes. There is sparse literature about the benefts of using pumps in people with type 2 diabetes, however, anecdotally, these appear to be advantageous to some people. Insulin is not the end of the road for the person with diabetes, nor does it represent therapeutic or patient failure. It is important to discuss with all patients with diabetes that insulin may be required at some stage of their illness. Before starting insulin Ensure that other possible causes of hyperglycaemia have been addressed (e. At the same time as selecting which insulin to use, consider which injecting device is most suitable for the patient. Dosage adjustment can be more complex with premixed insulins as both insulin components are adjusted simultaneously increasing the risk of both hypoglycaemia and weight gain compared with basal insulin. Basal Plus where additional pre-prandial injection of short-acting insulin is added to basal insulin (see Appendix I. Basal Bolus where short-acting insulin injections are used before each meal in addition to basal insulin (see Appendix I.

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The Apple version was last updated in January 2016 and the Android version was last updated in March 2016. The cost of this program is not publicly available, but their Web site 64 states that ?custom work may incur additional fees? above the base price. Gather Health also provides dietary advice, medication reminders, glucose measurement reminders, glucose level alerts, HbA1c calculations, and diabetes education to its users. Because this app requires a prescription, we were unable to use it or provide a usability score. Both intervention and control groups received free visits, laboratory tests, test trips, and lancets, but the intervention group received the app and a mobile phone plan stipend. Data on reduction in HbA1c were analyzed according to three different methods; there was a clinical and statistical significant improvement in HbA1c in the intervention compared with control through analysis of only follow-up data (difference-in-differences: -0. This study was of low quality due to a lack of information on randomization and allocation concealment, and considerably more interaction with study staff in the intervention than the control group. Findings should also be interpreted with caution because authors examined HbA1c without looking at harms. Scanning the code will take the user to the App Store where the app can be downloaded. While the Apple App Store claims 26 the app is available in English, we could only download it in Mandarin, and we were unable to translate the application into English. According the Web site (translated by Google Translate), the WellTang app can help users track their blood glucose, HbA1c, meals and carbohydrates, 65 medication use, physical activity, and weight. This app can also connect users and their phones, ?wearables,? and glucose-measuring devices to their physicians so that care teams can monitor a user?s progress and adjust treatment plans when necessary. It is important to note that we were unable to read the privacy policy, and are unsure of any data security issues that may be present. Because we were unable to use the app, there may be additional functionality not listed here. Because the app was not available in English, we were unable to rate its usability. The intervention group used the WellTang app by self-entering health data and could ask questions and receive feedback from the study team usually within a day, while the control group received usual care from physicians who reviewed blood glucose readings, logbooks, and adjusted medication regimens to targeted goals once a month. No participants changed the type of medication they were taking, but there were more medication dosage changes in the intervention group (significance not reported). Additionally, 84 percent of intervention participants were satisfied with the app. This study was moderate quality due to a lack of information about allocation concealment, missing information on the number participants who dropped out of the control group, and no information on how drop-out data was analyzed. Risk of Bias/Quality Assessment Study quality varied for both type 1 and type 2 diabetes. Studies examining Diabetes 30, 31 24 27 25 34 Interactive Diary, Diabeo Telesage, Glucose Buddy, Dbees, Health Coach +, and 35 28 26 WellTang, were of moderate quality. Studies on Gather Health, Diabetes Manager, 29, 38 32 33 BlueStar, Diabetes Diary, mDiab, were of low quality. Common methodological issues included a lack of information about randomization and allocation concealment, more potential for interaction with study personnel in the intervention than the control groups, high rates of attrition, and a lack of information on how drop-out data were analyzed. Details on study quality for individual studies (Figure 1) and across studies (Figure 2) are presented below. For each criterion, red represents high risk of bias, yellow represents unclear risk of bias, and green represents low risk of bias. The overall assessment of study quality is presented at the bottom of each column. Risk of bias and overall quality for individual studies for type 1 and type 2 diabetes Bias Category Individual Study Random sequence generation (selection bias) Allocation concealment (selection bias) Groups similar at baseline or were differences controlled for? Risk of bias across studies for type 1 and type 2 diabetes Bias Category Percent of Total Studies Random sequence generation (selection bias) Allocation concealment (selection bias) Groups similar at baseline or were differences controlled for?

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This modulation slow waves to the low-voltage desynchronized pattern typical can thus amplify neuronal signals over much of the brain to of wakefulness, suggesting that this general region is capable recruit the many systems necessary for waking behaviors. Thus, the term reticular formation is helpful anatomically, but more insight can be gained from understanding the specifc cells and Submitted for publication February, 2011 pathways contained within this general region. Submitted in fnal revised form March, 2011 Accepted for publication March, 2011 Wake-Promoting Neurochemical Systems Address correspondence to: T. Scammell: Department of Neurology, Beth Israel Deaconess Medical Center, 330 Brookline Ave. Cortical and subcortical regions are excited elongated nucleus just beneath the foor of the fourth ventricle. Neurons in the laterodorsal and medulla that mediate autonomic responses, and though much less studied, these cells may also promote arousal. These drugs are usually very effective, but because they Figure 2?A prototypical dopamine synapse. In just the last 10 years, much has been learned about the ways in which orexins promote arousal. These reciprocal connections are thought to drive Each of the arousal systems presented above is independent- some cortical rhythms, including sleep spindles. Anatomically, there are galanin,146,147 and they innervate all the arousal-promoting re- many interconnections between the systems. The orexin peptides help sustain has been learned, but the specifc pathways that generate this wakefulness and also may help drive goal-oriented behaviors state are still debated (Figure 5). One region transitions between sleep and wakefulness and minimizing time that has received signifcant attention is the sublaterodorsal nu- in drowsy, intermediate states. With prolonged wakefulness, adenosine levels rise in the basal forebrain and other regions, and levels then fall Mechanisms that Regulate the Transitions between Sleep and during recovery sleep. The two-process model provides a useful macroscopic per- spective on the dynamic control of sleep and wakefulness. Burgess ing wakefulness and declines during sleep, and this factor in- for their thoughtful comments on this manuscript. Scammell has disruption of adenosine signaling can blunt the usual increase in consulted for Merck and Cephalon. A motility cycle in sleeping infants as mani- transcription and translation of several genes. New research on the structures responsible for the neurons then relay these timing signals to the adjacent subpara- ?paradoxical phase? of sleep. Synergistic sedative effects of noradrenergic injury to the brain stem activating system. Electroencephalogr Clin Neu- alpha(1)- and beta- receptor blockade on forebrain electroencephalo- rophysiol 1949;1:475-86. Sleep-wake related discharge patterns in the amygdala and in medullary noradrenergic cell groups. Eur properties of basal forebrain neurons recorded with micropipettes in head- J Neurosci 2001;14:1143-52. J Neurosci cholinergic basal forebrain neurons, together with cholinergic neu- 2010;30:14543-51. Projections from basal forebrain to prefrontal cortex sessment of long-term comparative effectiveness and safety. State-depen- Circadian rhythm of histamine release from the hypothalamus of freely dent release of acetylcholine in rat thalamus measured by in vivo micro- moving rats. Excitatory effect of histamine fects of transdermal nicotine on sleep architecture, snoring, and sleep- on the arousal system and its inhibition by H1 blockers. Cholinergic mechanisms in the production of primary insomnia: a placebo-controlled, double-blind, polysomnographic focal cortical slow waves. Effcacy and safety of dox- havior: effects of atropine, eserine, phenothiazines, and amphetamine. J epin 1 mg and 3 mg in a 12-week sleep laboratory and outpatient trial of Comp Physiol Psychol 1975;88:300-23. Keynote review: neurons in awake rats and monkeys is a function of sensory stimulation histamine H3 receptor antagonists reach out for the clinic.

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A consistent relationship between increasing work hours and more health complaints was observed across studies. More recent data from approximately 20,000 European workers from a broad range of occupations confirmed a clear direct correlation between the number of hours worked per week and health complaints (Raediker et al. Caruso and colleagues (2004) performed a critical review of studies linking work hours and health outcomes. In their analysis, they examined the effects of shift work and shift work also accompanied by longer total work hours (more than 40 hours a week). When those latter criteria were met, individuals consistently demonstrated lower perceived general well being and more health problems, along with an increased risk of occupational injuries. Eight hours of sleep per night is recommended for adults, because that number is the average preferred duration among healthy people who do not have other demands limiting sleep. Longitudinal studies comparing sleep duration and health outcomes seem to confirm that optimum duration. Mortality increases in men and women when they deviate from that average amount of sleep each night. In long term studies, even controlling for other factors influencing life expectancy, sleeping less than eight hours per night was associated with higher mortality rate (Heslop et al. Several lines of evidence indicate that long work hours (more than 50 to 60 hours each week) increase the incidence of, and risk factors for, heart disease and cardiovascular events. Most studies linking heart disease and long work hours have been among Japanese men. The stages of deep sleep are times when the heart rate and blood pressure are lowered, and important bodily repair functions occur. Daytime ambulatory blood pressure cuff measurements found that prolonged work hours were associated with an increase in blood pressure (Fialho et al. Large cross-sectional studies also support the relationship between loss of sleep and hypertension (Gangwisch et al. Tobacco use is a major risk factor for heart disease, and lack of sleep has been associated with greater tobacco use (Caruso et al. Those alterations may relate to the up to six-fold increase in gastrointestinal disorders, such as peptic ulcers, indigestion, diarrhea and constipation, observed among those with sleep deprivation and night shift work (Reid et al. Weight gain and obesity have strong genetic components, comparable to the inheritance of height. In recent years, researchers have recognized that obesity is a metabolic disorder, and they have identified the physiology explaining why people differ in their propensity to gain weight. In part, those are explained by differences in the hormone levels that regulate eating behavior and metabolic rate. Ghrelin is a hormone produced by stomach cells that stimulates the appetite, and its level increases before meals. It is considered the counterpart of the hormone leptin, produced by adipose tissue. Leptin levels directly relate to the amount of body fat, and higher levels lead to reduced eating and an increase in metabolic rate. Studies indicate that shorter sleep duration in young, healthy adults is associated One of the strongest with a hormonal pattern (decreased leptin and increased ghrelin biological links is between levels) that stimulates hunger and promotes weight gain (Spiegel chronic sleep deprivation et al. Short sleep durations more than double the risk of developing diabetes (Yaggi, Araujo & McKinlay, 2006). A longitudinal study of Japanese workers documented that those not on day shifts had a significantly greater risk of developing diabetes over 10 years, even when controlling for body weight, physical activity and other factors known to influence diabetes onset (Suwazono et al. Research indicates that inadequate rest lowers levels of immunoglobulins needed to fight infections (Hui, Hua, Diandong & Hong, 2006). Sleep deprivation appears to increase circulating blood factors that promote and indicate inflammation (Vgontzas et al. The finding that sleep loss may activate inflammatory processes is another potential link explaining the association of sleep deprivation and cardiovascular morbidity observed in epidemiologic studies (Meier- Ewert et al. Identifying a link between work hours and malignancies is complicated by the many other factors relating to cancer risk, such as exposure to carcinogens. Also among women, the risk of breast cancer is increased among night shift workers (Megdal et al. The large ongoing longitudinal studies of men have involved male physicians, who generally have not worked in shifts and whose job structures were more varied. As a result, the incidence of cancer among men working long hours has not been well studied.

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The diet of patients with hypothyroidism should be based on increased content of complete protein, polyunsaturated fatty acids as well as carbohydrates with a low glycaemic index. Consumption 394 of complex carbohydrates which provide the most of mineral nutrients, vitamins and dietary fibres is recommended. The supply of vitamins and mineral nutrients is important due to their impact on secretory activity of the thyroid. They include iodine, iron, selenium and zinc as well as vitamins: A, D, E, B2, B3 and B12. Existence of relation between vitamin D deficiency and the risk of development of autoimmune thyroiditis is also indicated. Summary: the diet of patients with Hashimoto?s thyroiditis should be considered in a complex way, including hormone deficiency as well as changes in diet and supplementing it in necessary mineral nutrients and vitamins. Therefore education regarding the rules of proper nutrition should be a component of the process of treatment. Key words: Hashimoto?s thyroiditis, food, prevention Background Our civilization is polluted and chemical. They affect bigger and bigger population, but there are many patients who are unaware of the origin of the disease. Connecting diseases of the thyroid to autoimmune reasons is more and more popular. Diseases of endocrine system including the most often occurred: Graves- Basedov thyroid disease and chronic lymphocytic thyroiditis form a very large group of specific autoimmune diseases. In experts? opinion over 300 million people around the world have thyroid problems but a half of them do not know about it. In Poland, according to the estimates of endocrinologists approximately 22% of the population have thyroid problems [1]. Hashimoto?s thyroiditis which is the most common reason for hypothyroidism affects people in all age intervals including children, but it mostly occurs between 45 and 65 years of age. Hashimoto?s thyroiditis affects women 10 to 20 times more often than men that suggests that estrogens participate in the pathogenesis of the disease [2]. Hashimoto?s thyroiditis a medical condition defined as a disease attacking own organism was described in 1912 by Japanese physician Hakaru Hashimoto and it was rare until 1950. Hashimoto?s thyroiditis is a mysterious disease due to not fully disclosed pathogenesis. It is known that genetic predispositions, namely immune system disorders are the origin of the disease, but the direct causes of autoimmune reaction are not known [4]. Fatigue, reduction of exercise capacity, movement deceleration, drowsiness, hair and eyebrow loss, dry skin, nail fragility, feeling cold and chronic constipation are dominant feelings in the clinical picture of the disease. Characteristic symptoms include also swelling of the eyelids, increase of body weight due to released metabolism, low timbre, goiter as well as symptoms resembling rheumatism. Symptoms of severe hypothyroidism include slowing down of the speech, carpal tunnel syndrome, ascites, hearing impairment, water retention, infiltrates of the pleura, pericardial effusion and peripheral oedema affecting ankles, hands and face [6]. It is also proved that that there are disorders of carbohydrate metabolism in thyroid diseases both in hypothyroidism and hyperthyroidism. Thyroid hormones have a significant impact on glucose metabolism and development of insulin resistance, which may result in metabolic syndrome, type 2 diabetes or cardiovascular diseases [7]. The objective of the paper is indication of food ingredients that support thyroid gland activity as well as those that should be limited. Nutritional habits and diet supplementation impact on Hashimoto?s thyroiditis Nutritional state of the organism is the factor that adjusts functioning of all organs in human body. Properly balanced diet can become also an important factor adjusting functioning of the thyroid. Liver, reproductive system, adrenal glands, digestive system (stomach, intestines) and immune system conditions have a significant impact on thyroid activity. In many publications it is emphasized that right nutrition and proper selection of nutrients are necessary in occurring and development of Hashimoto?s thyroiditis.

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During and after treatment, all patients showed progressive deterioration at a pace similar to that observed before treatment or faster. However, there was some discussion regarding its use in rare circumstances when other options (e. Isolated IgA deficiency is marked by recurrent sinusitis, bronchitis, and pneumonia, and recurrent diarrhea, although many patients have no symptoms. Management of selective IgA deficiency is limited to treating associated infections. Some advocate prophylactic daily doses of antibiotics for patients with multiple, recurrent infections. No intervention is available to either replace IgA via infusion or increase production of native IgA. The investigators found that there was no significant between-group difference in the rates of primary outcome which was death or major disability at the age of 2 years. No significant differences in the rates of seven pre-specified secondary outcomes were observed, including the incidence of subsequent sepsis episodes and causative organisms. In follow-up of survivors at 2 years, there were no significant differences in the rates of major or non-major disability or of adverse events. The authors concluded that the use of immune globulin was not associated with significant differences in the risk of major complications or other adverse outcomes in neonates with suspected or proven sepsis. Approximately half of patients present with purely ocular symptoms (ptosis, diplopia), so-called ocular myasthenia. Treatments proposed for ocular myasthenia include drugs that suppress the immune system including corticosteroids and azathioprine, thymectomy, and acetylcholinesterase inhibitors. Additional double-blind, placebo-controlled studies are needed before this becomes a standard of therapy. Most of the reports have focused on associated dysautonomia or neuropathy although they have been very small case studies. A beneficial response was noted in 17 out of 20 patients based on either the disappearance or marked clinical improvement of the main clinical manifestation. In another trial, 14 patients with progressive lupus nephritis who had received cyclophosphamide 1 g/m2 monthly for 6 months with 0. Additional randomized controlled trials will need to be conducted to determine its place in therapy. Consensus-based recommendations for the management of juvenile dermatomyositis Ann Rheum Dis. Prevention of recurrent miscarriage for women with antiphospholipid antibody or lupus anticoagulant. Intravenous immunoglobulin in relapsing-remitting multiple sclerosis: a dose-finding trial. Intravenous Immunoglobulins for Relapses of Systemic Vasculitides Associated with Antineutrophil Cytoplasmic Autoantibodies. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology: Non-Hodgkin?s Lymphoma, Version 3. Intravenous immunoglobulin for suspected or subsequently proven infection in neonates. Evidence-based guideline: intravenous immunoglobulin in the treatment of neuromuscular disorders: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Prescribing intravenous immunoglobulin: summary of Department of Health guidelines. The investigation and treatment of couples with recurrent first-trimester and second-trimester miscarriage. Idiopathic thrombocytopenic purpura: current concepts in pathophysiology and management. High rates of infection associated with the use of maintenance rituximab monotherapy in non-Hodgkin lymphoma. European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies [trunc].

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Causes of birth defects include a family history of birth defects, maternal age, certain drugs taken during pregnancy, alcohol use and smoking during pregnancy. Mental Retardation - Mental retardation is a term used to describe a person who has certain limitations in mental functioning and difficulties in communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Causes of mental retardation include genetic conditions such as Down syndrome, problems during pregnancy, problems at birth and health problems such as malnutrition. Cerebral palsy is caused by injuries to the largest part of the brain (cerebrum) which happen as the baby grows in the womb or near the time of birth. There are multiple causes of cerebral palsy including birth defects that affect the brain, spinal cord, head, face, lungs or metabolism, and certain hereditary and genetic conditions. Neurofibromatosis type 1 is a disorder characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. Neurofibromatosis type 2 is also considered to have an autosomal dominant pattern of inheritance. The genetics of autism are complex and it is thought that there are multiple genes involved. Children who have Aspergers syndrome do not usually have language or cognitive developmental delays. Genes are believed to play a role in Aspergers syndrome, and it seems to run in some families. The excessive accumulation of fluid causes an abnormal widening of spaces in the brain called ventricles. Hydrocephalus may be caused by inherited genetic abnormalities (such as the genetic defect that causes aqueductal stenosis) or developmental disorders (such as those associated with neural tube defects including spina bifida and encephalocele). Other possible causes include complications of premature birth, and diseases such as tumors or hemorrhage which block the fluid. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant medical problems. Tuberous sclerosis is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about one-third of families, an affected person inherits an altered gene from a parent who has the disorder. These cases occur in people with no history of tuberous sclerosis in their family. Prion diseases are group of progressive conditions that affect the nervous system. Prion diseases impair brain function, causing memory changes, personality changes, a decline in intellectual function, and problems with movement that worsen over time. The signs and symptoms of these conditions usually begin in adulthood, and these disorders lead to death within a few months to several years. Creutzfeldt-Jakob disease is acquired by eating beef products obtained from cattle that have prion disease. An early-onset, less common form of Huntington disease begins in childhood or adolescence. This condition is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Major signs and symptoms of Type 1 Gaucher disease include enlargement of the liver and spleen, a low number of red blood cells, easy bruising caused by a decrease in blood platelets, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease, on the other hand, have problems that affect the central nervous system. Gaucher disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

References:

  • https://pfe-pfizercom-prod.s3.amazonaws.com/investors/financial_reports/annual_reports/2018/assets/pdf/pfizer-2018-annual-review.pdf
  • http://www.columbia.edu/itc/hs/medical/pathophys/id/2009/introNotes.pdf
  • https://www.thyroid.org/wp-content/uploads/patients/brochures/medullary-thyroid-cancer-brochure.pdf
  • https://k-t.org/assets/images/content/BCH-Klippel-Trenaunay-Syndrome-Management-Guidelines-1-6-2016.pdf