Gaucher's Disease Research Paper

The mechanism of action of dulaglutide involves activation of GLP-1 receptor; a membrane-bound cell surface receptor coupled to adenyl cyclase in β cells. Increase in intracellular cells leads to a glucose-dependent release of insulin. Reduction in the secretion of glucagon and slow gastric emptying is done by Dulaglutide (K). Continued administration of dulaglutide increases fasting insulin and C-peptide concentrations, thus reducing fasting glucagon concentrations. Healthy patients as well as adults with type 2 diabetes have similar dulaglutide pharmacokinetics. It occurs slowly, but is well absorbed into the systemic circulation, thus reaching a maximum plasma concentration.

Possible side effects: “dry mouth, sedation, blurred vision (disturbance of accommodation, increased intra-ocular pressure), constipation, nausea, difficulty with micturition; cardiovascular side-effects (such as ECG changes, arrhythmias, postural hypotension, tachycardia, syncope, particularly with high doses); sweating, tremor, rashes and hypersensitivity reactions (including urticaria, photosensitivity), behavioural disturbances (particularly children), hypomania or mania, confusion or delirium (particularly elderly), headache, interference with sexual function, blood sugar changes; increased appetite and weight gain (occasionally weight loss); endocrine side-effects such as testicular enlargement, gynaecomastia, galactorrhoea; also convulsions (see also Cautions), movement disorders and dyskinesias, dysarthria, paraesthesia, taste disturbances, tinnitus, fever, agranulocytosis, leucopenia, eosinophilia, purpura, thrombocytopenia, hyponatraemia

Some of the immediate physical complaints include constantly feeling cold, bloodshot eyes with dark circles, finger calluses, dizziness, weakness, lackluster hair, moodiness, insomnia, no menstruation, swollen glands, weight loss, sore throat, or dry skin. Some of the long-term effects include extreme weight loss, gastrointestinal pain, diarrhea and/or constipation, malnutrition, loss of tooth enamel,

This research is performed after preliminary evidence suggesting effectiveness of the drug has been obtained. The intention of this research is to gather additional information with regard to effectiveness and safety and attempts to be conclusive with answers about the drug as far as benefit/risk issues are concerned. This is also the phase in the drug research process where labels are created and the basic guidelines for definition and public informative information is finalized. These studies may include several hundred to several thousand people.

Fifth Disease also known as Erythema Infectious is a viral illness caused by the parvovirus B19. It is more common in children ranging from five to fifteen years of age than it is in adults. Most children will recover quickly without having any long lasting complications. Individuals may recognize the disease by the distinctive red rash that appears on the face that resembles a slapped cheek. Fifth disease has an incubation period ranging from four to fourteen days, however it can last as long as twenty days. Did you know that fifth disease gets its name for being listed number five on the list of historical classifications of common skin rash illnesses in children?

Side effects of ergotamine includes nausea, tingling sensations, cramps, chest or abdominal pain, and dizziness. Three potential, and possibly fatal, problems include toxicity, extreme blood vessel constriction, and fibrosis. Doctors may advise taking painkillers that contain opioids if the attack is very severe. Examples of opioids include morphine, codeine, meperidine, and oxycodone. Butorphanol is an opioid that is available as a nasal spray. Classic side effects of opioids include drowsiness, nausea, judgement impairment, and constipation. Drug abuse and addiction are a big complication of using opioids as a treatment option. Metoclopramide is used in combination with other drugs to treat the nausea and vomiting that may occur from medications

Erythema Infectiosum is called fifth disease. It is a mild illness caused by a virus. This virus most commonly occurs in children. The disease usually causes a bright red rash that appears on both cheeks. The rash has a "slapped cheek" appearance. Before the rash, the patient usually has a low-grade fever, mild upper respiratory symptoms, and a headache. One to three days after the cheek rash appears, a pink, lacy rash appears on the body, arms, and legs. This rash may come and go for up to 5 weeks. It often gets brighter following warm baths, exercise, and sun exposure. Your child may have no other symptoms or only a slight runny nose, sore throat, and very low fever. Complications are rare. This illness is quite

Without HEXA being produced the enzyme is unable to break down GM2 ganglioside which accumulates around the brain and the spinal cord. (Kodama, 2011)

Gaucher disease (GD) is an inherited gene that stops glucocerebroside (type of lipid) to be broken down correctly. When this lipid cannot be broken down, buildups appear in the liver, spleen, and bone marrow which affects normal functioning. These organs begin to grow to an irregular size, amenia becomes present within the patient, and easy bruising appears due to the decrease in blood platelets. Gaucher disease is created during an autosomal recessive pattern, which means that two genes have a mutation, which causes the disorder. Normally, if a child is born with this disease, both parents carry one copy of the mutated gene. The gene that the mutation appears in is the GBA gene. GBA is located in chromosome one. The GBA gene is in charge of creating the instructions for producing an enzyme called beta-glucocerebrosidase. This enzyme breaks down the glucocerebroside into glucose and ceramide (a simpler fat molecule). When mutations appear in the GBA gene, the activity of the beta-glucocerebrosidase is reduced abundantly. Without this important breaking down of the

There is also a third protein required for GM2 ganglioside hydrolysis called the GM2-activator. It has been demonstrated that the GM2-activator extracts ganglioside GM2 from micelles or liposomes and forms a ganglioside activator complex. This complex is required for the Hex A enzymatic activity [ 4 ] .

One must intake, this medicine only after consulting with the doctor. Since, by consuming this medicine for long duration or in inadequate quantity, may cause serious for instance liver problems, nausea, constipation, dizziness, drowsiness, etc. To prevent the side effects one must avoid intake of alcohol consumption and must take a healthy diet. Moreover, one must only intake the dosage amount as suggested by the doctor. Since, the dosage of the medicine depends on several factors like, age, medical condition, weight, etc. so one must intake the right amount of

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

Pain, burning, or itching of the treated skin may occur. Skin and mucous membranes (such as the gums) may become blue/gray in color. Apart from this some serious side effects as mentioned below may also occur: signs of infection (such as fever, chills, persistent sore throat), easy bleeding, signs of anemia (such as unusual tiredness/weakness, rapid breathing, fast heartbeat), change in the amount of urine, pink/bloody urine, signs of liver problems (such as stomach/abdominal pain, persistent nausea, vomiting, dark urine, yellowing eyes/skin), mental/mood changes. Several cases of transient leukopenia have been reported in patients receiving AgSd therapy.

One of the main therapeutic approaches to Type 1 Gaucher disease is enzyme replacement therapy (ERT) , which has been shown in many studies its advantage to ameliorate a variety of signs and symptoms of type 1 Gaucher disease. Its aim is to supply the proper amount of enzyme to permit surplus material to be degenerated. Thus, ERT works by the supplement or replacement of the Gaucher patient’s enzymatic absence or deficiency. Conditions or symptoms related to the central nervous system in Types 2 and 3 Gaucher disease, since ERT does not cross the blood brain barrier.

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.