"injections of growth hormone. Most pediatric endocrinologists monitor growth and adjust dose every 3–6 months and many of these visits involve blood tests and x-rays. Treatment is usually extended as long as the child is growing, and lifelong continuation may be recommended for those most severely deficient. Nearly painless insulin syringes, pen injectors, or a needle-free delivery system reduce the discomfort. Injection sites include the biceps, thigh, buttocks, and stomach. Injection sites should be rotated daily to avoid lipoatrophy. Treatment is expensive, costing as much as US $10,000 to $40,000 a year in the USA. GH supplementation is not recommended"
"in susceptibility genes of insulin-dependent (type I) diabetes mellitus (IDDM). This analysis verifies that eighteen different genome regions are predisposed to insulin-dependent (type I) diabetes mellitus(IDDM). There are 18 different symbols of genome region, which is labeled from IDDM1 to IDDM18. The MHC HLA gene (IDDM1) and the insulin gene INS (IDDM2) are the major genetic candidates in the development of insulin-dependent (type I) diabetes mellitus(IDDM), which are located on the chromosome 6p21.3 and chromosome 11p15 respectively. IDDM3, IDDM4, IDDM5 IDDM7 reside in chromosome 15q26, chromosome 11q13, chromosome 6q25 and 2q31 respectively.IDDM11 (insulin-dependent diabetes mellitus 11) is one of the"
"IDDM11 Insulin-dependent (type I)diabetes mellitus (IDDM) is a genetic heterogenouse autoimmune disorder, which is triggered by genetic predisposition and environmental factors. The prevalence of insulin-dependent (type I) diabetes mellitus (IDDM) among children and young adult from Europe is approximately 0.4%. Insulin-dependent (type I) diabetes mellitus (IDDM) is characterized by acute onset and insulin deficiency. Patients with insulin-dependent (type I) diabetes mellitus (IDDM) are found with gradual loss of the pancreatic islet beta cells and therefore not able to produce insulin. As a result, they usually need exogenous insulin to maintain their life. Genome-wide linkage analysis could be used for identification"
"Genetic causes of diabetes mellitus type 1 At least 20 different chromosomal regions have been linked to type 1 diabetes (T1D) susceptibility in humans, using genome screening, candidate gene testing, and studies of human homologues of mouse susceptibility genes. The largest contribution to the pathogenesis of Type 1 Diabetes comes from a single locus called IDDM1, which comes from several genes located in the Major histocompatibility complex on the 6p21.3 chromosome. This is believed to be responsible for at least 40% of the disease's familial aggreagation. Additionally, nearly 30% of Type I Diabetes patients are heterozygous for several HLA-DQ2 (specifically"
"Diabetes mellitus type 1 Diabetes mellitus type 1, also known as type 1 diabetes, is a form of diabetes mellitus in which very little or no insulin is produced by the pancreas. Before treatment this results in high blood sugar levels in the body. The classic symptoms are frequent urination, increased thirst, increased hunger, and weight loss. Additional symptoms may include blurry vision, feeling tired, and poor wound healing. Symptoms typically develop over a short period of time. The cause of type 1 diabetes is unknown. However, it is believed to involve a combination of genetic and environmental factors. Risk"
"are associated with type 1 diabetes. Depending on locus or combination of loci, they can be dominant, recessive, or somewhere in between. The strongest gene, ""IDDM1"", is located in the MHC Class II region on chromosome 6, at staining region 6p21. Certain variants of this gene increase the risk for decreased histocompatibility characteristic of type 1. Such variants include DRB1 0401, DRB1 0402, DRB1 0405, DQA 0301, DQB1 0302 and DQB1 0201, which are common in North Americans of European ancestry and in Europeans. Some variants also appear to be protective. There is on the order of a 10-fold difference"
"disequilibrium) analyses and TDT (transmission disequilibrium test) to analyze the SEL1L gene among Danish and Sardinian families. The research result indicates that the SEL1L gene is not supposed to a candidate gene for IDDM11. In addition, other candidate genes for IDDM11 could be tested and identified by using single nucleotide polymorphism (SNP) technology. The following table shows some candidate genes for IDDM11. IDDM11 Insulin-dependent (type I)diabetes mellitus (IDDM) is a genetic heterogenouse autoimmune disorder, which is triggered by genetic predisposition and environmental factors. The prevalence of insulin-dependent (type I) diabetes mellitus (IDDM) among children and young adult from Europe is"
"developed to target the psychological mechanisms underpinning adherence. By working on increasing motivation and challenging maladaptive illness perceptions, programs such as CBT-AD aim to enhance self-efficacy and improve diabetes-related distress and one's overall quality of life. Diabetes type 1 is caused by the destruction of enough beta cells to produce symptoms; these cells, which are found in the Islets of Langerhans in the pancreas, produce and secrete insulin, the single hormone responsible for allowing glucose to enter from the blood into cells (in addition to the hormone amylin, another hormone required for glucose homeostasis). Hence, the phrase ""curing diabetes type"
"deficiency is hyperandrogenism, resulting from activation of the Hypothalamic–pituitary–adrenal axis. The deficiency has been known to exhibit symptoms of other disorders such as Polycystic Ovary Syndrome in women. Cortisone Reductase Deficiency alone has been reported in fewer than ten cases in total, all but one case were women. Elevated activity of 11β-HSD1 can lead to obesity or Type II Diabetes, because of the role of cortisol in carbohydrate metabolism and gluconeogenesis. Cortisol inhibition, and as a result, excess androgen release can lead to a variety of symptoms. Other symptoms come about as a result of increased levels of circulating androgen."
"a total body water shortage of about 6 liters (or 100 mL/kg), in addition to substantial shortages in sodium, potassium, chloride, phosphate, magnesium and calcium. Glucose levels usually exceed 13.8 mmol/L or 250 mg/dL. DKA is common in type 1 diabetes as this form of diabetes is associated with an absolute lack of insulin production by the islets of Langerhans. In type 2 diabetes, insulin production is present but is insufficient to meet the body's requirements as a result of end-organ insulin resistance. Usually, these amounts of insulin are sufficient to suppress ketogenesis. If DKA occurs in someone with type"
"at abnormally low prolactin levels. Antidiuretic hormone (ADH) deficiency leads to the syndrome of ""diabetes insipidus"" (unrelated to diabetes mellitus): inability to concentrate the urine, leading to polyuria (production of large amounts of clear urine) that is low in solutes, dehydration and—in compensation—extreme thirst and constant need to drink (polydipsia), as well as hypernatremia (high sodium levels in the blood). ADH deficiency may be masked if there is ACTH deficiency, with symptoms only appearing when cortisol has been replaced. Oxytocin (OXT) deficiency generally causes few symptoms, as it is only required at the time of childbirth and breastfeeding. The pituitary"
"a role in diagnosis. C4 and C2 are complementary components. There are three types of C1 inhibitor deficiency: HAE type I is primarily caused by a deficiency in blood proteins (C1 esterase inhibitors) which normally suppress activation of the complement system. The resultant over-stimulation of this system leads to the production of inflammatory anaphylatoxins, which affects the flow of body fluids between the vascular system and body tissues. This deficiency is responsible for approximately 80–85% of cases. HAE type II is a less frequently encountered form of this disorder and accounts for 15–20% of cases. In this type, atypical C1-inhibitor"
"""IGSF1"" gene block the transport of the CTD to the plasma membrane. Mutations in ""IGSF1"" cause a condition called IGSF1 deficiency syndrome or central hypothyroidism/testicular enlargement (CHTE). The condition, which affects an estimated 1:100,000 people, is more common in males than females. Most affected males are discovered through neonatal screening for hypothyroidism. The extent of hypothyroidism is variable, but most male cases require treatment with thyroid hormone replacement. Males with IGSF1 deficiency exhibit enlarged testicles (also known as macroorchidism) and a delay in the development of secondary sexual characteristics. Post-pubertally, there is no evidence of impaired fertility in these men."
"one group, whereas type 2 encompasses four categories. This is hoped to improve diabetes treatment by tailoring it more specifically to the subgroups. Insulin is the principal hormone that regulates the uptake of glucose from the blood into most cells of the body, especially liver, adipose tissue and muscle, except smooth muscle, in which insulin acts via the IGF-1. Therefore, deficiency of insulin or the insensitivity of its receptors play a central role in all forms of diabetes mellitus. The body obtains glucose from three main sources: the intestinal absorption of food; the breakdown of glycogen (glycogenolysis), the storage form"
"Factor I Deficiency Factor I deficiency, also known as fibrinogen deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the blood coagulation cascade. It is typically subclassified into four distinct fibrinogen disorders: afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. Clinically, these disorders are generally associated with an increased diathesis, i.e. propensity, to develop spontaneous bleeding episodes and excessive bleeding after even minor tissue injuries and surgeries; however, individuals with any of these disorders may also exhibit a propensity to pathological thrombosis episodes. Treatment of these disorders generally involves specialized centers and the establishment of preventative measures designed based on"
"of the pancreas. Insulin is needed to keep blood sugar levels within optimal ranges, and its lack can lead to high blood sugar. As an untreated chronic condition, diabetic neuropathy can result. Type 1 diabetes can develop at any age but is most often diagnosed before adulthood. For people living with type 1 diabetes, insulin injections are critical for survival. An experimental procedure to treat type 1 diabetes is the transplantation of pancreatic islet cells from a donor into the patient's liver so that the cells can produce the deficient insulin. Diabetes mellitus type 2 is the most common form"
"A variety of mutant alleles with changes in the coding region have been identified. A read-through gene, INS-IGF2, overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. In the pancreatic β cells, glucose is the primary physiological stimulus for the regulation of insulin synthesis. Insulin is mainly regulated through the transcription factors PDX1, NeuroD1, and MafA. PDX1 (Pancreatic and duodenal homeobox protein 1) is in the nuclear periphery upon low blood glucose levels interacting with corepressors HDAC1 and 2 which is downregulating the insulin secretion. An increase in blood glucose levels causes"
"of growth hormone deficiency called isolated growth hormone deficiency (IGHD), a disease that results in growth failure. IGHD type II is an autosomal dominant form caused by a mutation in the intervening sequence (IVS) adjacent to exon 3 of the gene encoding growth hormone 1, the GH-1 gene. This mutated form of IVS3 causes exon 3 to be skipped in the mRNA product. The mRNA (-E3) encodes a truncated form of hGH that then inhibits normal hGH secretion. Minigenes were used to determine that a point mutation within an intron splice enhancer (ISE) embedded in IVS3 was to blame for"
"cells are not activated and cannot differentiate into plasma cells which causes them to be deficient in antibodies which are unable to perform as they are expected. The only current form of treatment is a bone-marrow transplant however even this does not cure the disease and most patients do not live past age ten. MHC class II genes and molecules are related to a multitude of different diseases, one of which being Type I diabetes. HLA class II genes are the most important genes associated with the risk of inheriting Type I diabetes, accounting for about 40-50% of heritability. Alleles"
"the amount of type I fibers in muscle. Type I fibers are slow twitch, endurance fibers. This data agrees with human data that says the amount of type I fibers is positively correlated with the maximal aerobic capacity. It also suggested that the amount of type 1 fibers is correlated with a histone acetyltransferase (HAT) that is involved in osteoblast differentiation and bone formation. Individuals with type II diabetes have hypermethylation of several genes within the muscle, like peroxisome proliferator-activated receptor gamma(PPAR-γ) and coactivator 1 alpha(PGC-1α). The hypermethylation of these genes decreases the expression of both mitochondrial DNA as well"
"left behind during both HCNE-driven expression and IRX3 expression. In summary, persons at high risk for Type 2 Diabetes and obesity have a highly methylated 7.7 kb region in the linkage disequilibrium block of the FTO gene. This methylation leads to the deactivation of the HCNE located within it, and decreased IRX3 expression. When IRX3 was knocked out, there was a drop in the number of β-cells that produce insulin and the α-cells that produce glucagon. This sudden drop indicates a direct relationship between the FTO gene, IRX3, and Type 2 diabetes. Epigenetics of diabetes Type 2 In recent years"
"sometimes mistaken for fatty acid and ketogenesis disorders such as Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD), other long-chain fatty acid oxidation disorders such as Carnitine palmitoyltransferase II deficiency (CPT-II) and Reye syndrome. Treatment for this condition is supportive. There is no cure. Affective people should eat a high-carbohydrate and avoid fasting. ""This article incorporates public domain text from The U.S. National Library of Medicine"" Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase I deficiency (CPT-I, CPT1) is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is"
"other causes for an increase in blood sugar levels. Among them are the 'stress' hormones such as epinephrine (also known as adrenaline), several of the steroids, infections, trauma, and of course, the ingestion of food. Diabetes mellitus type 1 is caused by insufficient or non-existent production of insulin, while type 2 is primarily due to a decreased response to insulin in the tissues of the body (insulin resistance). Both types of diabetes, if untreated, result in too much glucose remaining in the blood (hyperglycemia) and many of the same complications. Also, too much insulin and/or exercise without enough corresponding food"
"disorganised part of the peptide chain. SHBG has both enhancing and inhibiting hormonal influences. It decreases with high levels of insulin, growth hormone, insulin-like growth factor 1 (IGF-1), androgens, prolactin and transcortin. High estrogen and thyroxine levels cause it to increase. In an effort to explain obesity-related reductions in SHBG, recent evidence suggests sugar or monosaccharide-induced hepatic lipogenesis, hepatic lipids in general, and cytokines like TNF-alpha and Interleukin reduce SHBG, whereas insulin does not. As an example anti-psoriatic drugs that inhibit TNF-alpha cause an increase in SHBG. The common downstream mechanism for all of these, including the effect of thyroid"
"of ketones and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. Mutations in the ""CPT1A"" gene cause carnitine palmitoyltransferase I deficiency by producing a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may more rapidly build up in tissues, damaging the"
"cells, especially under nutrient limitation or other stress conditions. PEPCK-C is enhanced, both in terms of its production and activation, by many factors. Transcription of the PEPCK-C gene is stimulated by glucagon, glucocorticoids, retinoic acid, and adenosine 3',5'-monophosphate (cAMP), while it is inhibited by insulin. Of these factors, insulin, a hormone that is deficient in the case of type 1 diabetes mellitus, is considered dominant, as it inhibits the transcription of many of the stimulatory elements. PEPCK activity is also inhibited by hydrazine sulfate, and the inhibition therefore decreases the rate of gluconeogenesis. In prolonged acidosis, PEPCK-C is upregulated in"
"also lack male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). These characteristics are known as hypogonadotropic hypogonadism. Females are rarely affected by this disorder, but a few cases have been reported of adrenal insufficiency or a lack of female sex hormones, resulting in underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation. Mutations in the ""NR0B1"" gene located on the X chromosome (Xp21.3-p21.2) cause X-linked adrenal hypoplasia congenita. The ""NR0B1"" gene provides instructions to make a transcription factor protein called DAX1 that helps control the activity"
"Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase I deficiency (CPT-I, CPT1) is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down. Signs and symptoms of this disorder include low levels"
"Type 1 diabetes counterpart, and a ""lifestyle"" factor, with pancreatitis being a clear cause. This evidence suggests that the disease in dogs has some environmental and dietary factors involved. Secondary diabetes may be caused by use of steroid medications, the hormones of estrus, acromegaly, (spaying can resolve the diabetes), pregnancy, or other medical conditions such as Cushing's disease. In such cases, it may be possible to treat the primary medical problem and revert the animal to non-diabetic status. Returning to non-diabetic status depends on the amount of damage the pancreatic insulin-producing beta cells have sustained. It happens rarely, but it"
"illness that affects how the body uses food, and is a life-threatening human disease if left untreated. It affects more than 171 million people worldwide. Diabetes mellitus can be subdivided into; type I diabetes, where the body does not produce insulin, the hormone which facilitates the uptake of glucose by cells; and type II diabetes, where the body becomes resistant to insulin, thus inhibiting the extent of glucose usage. In each case, the ineffective use of glucose as a source of energy leads to the subsequent breakdown of fatty acids to compensate. This consumption of fatty acids by ketosis, produces"
"factors include having a family member with the condition. The underlying mechanism involves an autoimmune destruction of the insulin-producing beta cells in the pancreas. Diabetes is diagnosed by testing the level of sugar or glycated hemoglobin (HbA1C) in the blood. Type 1 diabetes can be distinguished from type 2 by testing for the presence of autoantibodies. There is no known way to prevent type 1 diabetes. Treatment with insulin is required for survival. Insulin therapy is usually given by injection just under the skin but can also be delivered by an insulin pump. A diabetic diet and exercise are important"
"Growth hormone deficiency Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH). Generally the most noticeable symptom is a short height. In newborns there may be low blood sugar or a small penis. In adults there may be decreased muscle mass, high cholesterol levels, or poor bone density. GHD can be present at birth or develop later in life. Causes may include genetics, trauma, infections, tumors, or radiation therapy. Genes that may be involved include GH1, GHRHR, or BTK. In a third of cases no cause is apparent. The underlying mechanism generally involves problems"
"infections, stroke, trauma, certain medications, and heart attacks. Other risk factors: HHS is usually precipitated by an infection, myocardial infarction, stroke or another acute illness. A relative insulin deficiency leads to a serum glucose that is usually higher than 33 mmol/L (600 mg/dL), and a resulting serum osmolarity that is greater than 320 mOsm. This leads to excessive urination (more specifically an osmotic diuresis), which, in turn, leads to volume depletion and hemoconcentration that causes a further increase in blood glucose level. Ketosis is absent because the presence of some insulin inhibits hormone-sensitive lipase mediated fat tissue breakdown. According to"