Polyclonal B-cell hyperreactivity with abnormalities of autoregulation have been reported, the histopathologic substrate of Sjogren’s syndrome is characterized by presence of lymphocytic infiltrates in glandular and extraglandular sites. Microscopic examinations of enlarged parotid or submandibular glands reveal benign lymphoepithelial lesion, characterized by epimyoepithelial islands in a lymphocytic infiltrate with replacement of acini. In the minor salivary glands the characteristic feature is focal lymphocytic
The causes of this disorder due to an autosomal recessive and a mutation in several genes involve the absence production of melanin. In some types of albinism, if each parent has one copy of defective gene there is a chance that each offspring will be an affected or a carrier. The signs and symptoms of Albinism are absence color (skin, hair, and eyes), lighter than a normal coloring (hair, skin and eyes), patches of skin that have an absence of pigment. The most common to diagnosed albinism by the used of genetic testing, it detects the defective gene that related in this disorder. Since the Albinism is no cure, treatment is for relieving the symptoms or preventing sun damage, they wear sunglasses with UV protection to protect their eyes from sun’s rays, protective clothing and sunscreen protection to protect skin from UV
2. One of the first guideline principles that you stated was that “cells form the foundation of body structure and function.” The first guideline principle would relate to the integumentary system as it consist of exocrine glands, skin, nails, and hair. Skin is one of the major organs not only in the integumentary system but also for our body. Our skin is made up of thousands of cells that serve a certain structure and function. Our skin is our body’s protection barrier that protects us against an harsh outside world environment.
It has the weakest colour contrast and will have chartreuse eyes, ranging from green-gold to yellow-green. Pointed, this type has two (cs) coat pattern genes. It has the strongest contrast with a pale body coat, dark points and bright blue eyes in shades from sky blue to violet. The Tonkinese (Mink), version has one (cs) and one (cb) coat pattern gene. Since both are recessive genes, neither will be dominant.
There are many causes of cirrhosis including chemicals (such as alcohol, fat, and certain medications), viruses toxic metals (such as iron and copper that accumulate in the liver as a result of genetic diseases). Symptoms • Yellowing of the skin (jaundice) due to the accumulation of bilirubin in the blood • Fatigue • Weakness • Loss of appetite • Itching • Easy bruising from decreased production of blood clotting factors by the diseased liver Causes • Alcohol • Viral Hepatitis B & c Effects • If the diagnosis of liver cirrhosis
Diabetic eye disease includes diabetic retinopathy, cataract and glaucoma. What is Diabetic Retinopathy? Diabetic retinopathy is one of the complications of diabetes out of tripathy. Diabetic retinopathy occurs when hyperglycaemia (high blood sugar levels) causes damage to the cells at the back of the eye, known anatomically as, the retina. Diabetic retinopathy is a leading cause of loss of vision.
There are many gynecological diseases that affect the uterus, a hollow member that is located below a woman's belly button. One of these diseases is endometriosis. To illustrate, endometriosis is a chronic, common and painful disorder that occurs when the tissues grow outside the womb. In addition to that endometriosis term is derived from Latin words and divided into three sections, " end/o " means inside, " metr/i " which refers to uterus, and " osis " which means disease. Endometriosis has four types including minimal, mild, moderate and severe, and it relies on the location, size, number and depth of endometrial implants.
Introduction Diabetes mellitus is a disease where the sugar levels in one’s blood is above the normal level. This is caused when the body does not produce enough insulin or the body’s cells do not respond correctly to insulin or both. A manifestation of diabetes in the eye is diabetic retinopathy .This affects the retina of the eye. It is when small vessels which are damaged spill into the retina. These blood vessels usually nourish the retina.
This is a trans-membrane protein of the Golgi network, responsible to remove excess copper out of the cell through ceruloplasmin. Mutations in ATP7B gene lead to an abnormal ATPase protein which is incapable of removing excess copper leading to its accumulation in different tissues. So far 500 mutations have been reported . The consequences can be very fatal, if not diagnosed and treated properly as it can lead to irreversible damage to brain and liver
The endocrine system is such an important system to the body because it functions the bodies use of hormones. The body uses many different hormones and the endocrine system regulates these. When the glands of the endocrine system secrete the hormones, the hormones are put into the bloodstream to be sent to the different parts of the body. The glands that comprise the endocrine system are the hypothalamus, the pituitary gland, and the pineal gland which are all located in the brain, the thyroid, parathyroid, and thymus which are located in the throat, the adrenals and pancreas which are located in the body’s midsection, and the ovaries (female) and testes (male) which are located in the pelvic region. The system is so important because it regulates the body’s metabolism, growth and sexual development, digestion, heart rate, and many of the other body functions regulated by hormones.
Metabolism is the process in which nutrients are broken down within the body to create energy. This occurs through a series of chemical reactions, which, when disrupted, can be called a metabolic disorder. This occurs when the presence of a substance is missing or it is in a high quantity. These types of disorders occur when an organ is diseased, but can also be the result of genetics, like Wilson’s disease. Wilson’s disease is an autosomal recessive disorder in which there is a copper build-up in the body, and can be fatal unless diagnosed and treated early.
Harlequin Ichthyosis (HI) is an uncommon genetic disorder due to high quantity of mutations on gene ABCA12. HI infected newborns will have dry and tough outer skin coverings that crack into different plates and create deep fissures that lead to major pain on the skin and are highly prone to infections (Akiyama). Usually, couples who are carriers for HI disease are healthy and do not show signs of HI. However, both carriers of this autosomal recessive disorder will have about 25% chance of conceiving children with HI. GENETICS: Carriers of an autosomal recessive diseases are generally healthy because one of the allele that code for normal proteins is still present, which covers the loss of the mutated allele.
Amyloidosis occurs mostly in people whose myeloma has the light chain components of immunoglobulins to form a sticky protein called amyloid, impairs the function of whichever organ it is in. The kidney damage due to myeloma is fatigue, nausea, vomiting there also could be no signs and could cause foamy urine. Hyperviscostly syndrome can cause bruising from the mouth, nose, headaches, confusion, sleepiness, and problems with feeling their limbs. A bone marrow sample is taken to see what stage you can be treated
Alkaptonuria Ashley Thompson Grand Canyon University Alkaptonuria Alkaptonuria (AKU), which is commonly known as the black urine disease, is a very rare autosomal recessive disorder that occurs due to the mutation in the Homogentisate 1,2 Dioxygenase Gene (HGD). The HGD gene is what provides interactions for the making of the enzyme called homogentisic acid oxidase (HGAO). HGAO is the enzyme that helps by breaking down the amino acids tyrosine and phenylalanine. Tyrosine is known as a non-essential amino acid with a polar side group and it has a special role to the phenol functionality. Tyrosine appears in the proteins that are a part of signal transduction processes.
Wilson’s disease (or hepatolenticular degeneration) is a rare genetic disorder that causes excess amounts of copper to build up in the body, thus creating copper deposits which ultimately inhibit the body’s ability to function properly. It is an extraordinarily fatal condition among people who are not diagnosed and treated, as the copper buildup commences immediately after birth. Although most humans contain more copper in their bodies than is needed, it is usually eliminated through urine or bile, the dark yellow/brown fluid which is produced by the liver in humans. When bile is excreted from the liver, it is dispatched to the duodenum, a section in the small intestine which is the site of chemical digestion in humans. From there, the copper is broken down and sent to the jejunum to be absorbed by the body for use in various tasks such as the development of healthy nerves, bones, collagen (a protein essential for tissue support, development, and elasticity), and melanin (a pigment that gives color to human skin, hair, and eyes).