The dwarfing hypothesis implies that there must have been selective pressure that favored a reduction in body size. Phyletic dwarfing is then presumed to be fundamental to the further development of the species ' characters (Martin, 1992). Callitrichids are not the only primates that are thought to have undergone phyletic dwarfing. For example, there are also dwarf lemurs and dwarf bushbabies (Martin, 1990).…
Effects of ADH is to manage body water by acting on the kidney to inhibit urine formation…
Their arms are longer than their legs. Whenever they are walking, they quadrupely knuckle walk, while supporting their weight on the third and fourth digits of their curled hands.…
In the medical journal article “Harlequin Ichthyosis”, the authors Claire A. Scott, Shefali Rajpopat, and Wei-Li Di explain how ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin barrier dysfunction. HI was first talked about in the diary of Reverend Oliver Hart, in which most cases babies born with this die. The diagnosis is most often clinical and the effects are apparent at birth. The entire body is covered in a thick layer of white plates of scales separated by deep re fissures. The thickened skin can restrict movement and cause limb contractures, inevitably causing digital necrosis.…
The Bartholin glands (vestibular glands) are two pea sized compound racemose glands, located slightly posterior (behind) and to the left and right of the opening of the vagina. They secrete mucus to lubricate the vagina and are homologous to bulbourethral glands in males. However, while Bartholin 's glands are located in the superficial (near the surface) perineal pouch in females, bulbourethral glands are located in the subaqueous (deep) perineal pouch in males. “A bartholin cyst is a fluid-filled sac caused by blockage of a duct from the Bartholin gland. If bacterial infection occurs, an abscess may form” (Belle 2).…
The gene is found on chromosome 7, and controls the secretion of chloride, sodium, and bicarbonate ions across the epithelium tissues. The gene is required to regulate the components of sweat, digestive juices, and mucous. The product of the gene is a halide anion channel that contains two ATP-hydrolyzing domains, which allows protein to be used as energy in the form of ATP. Only one normally functioning gene is required to prevent cystic fibrosis. The disorder develops when neither of the two genes works appropriately. This malfunction of the gene is why cystic fibrosis is considered an autosomal recessive disease. If both parents are carriers, each parent can pass on the dysfunction copy or the normal copy to their children. Children who inherit two dysfunctional copies of the CFTR gene are affected and have the disease cystic fibrosis. There are multiple theories of why the mutation occurs. For an example F508 creates a protein that doesn’t fold normally and is disregarded by the cell. If the proteins are not the correct size the production is ended abruptly. Mutations also lead to fewer copies of the CTFR gene production. When the gene doesn’t work, chloride and thiocynate are trapped inside the cells in the airway and outside the skin. Chloride is negatively charged, positive charged cations cross into the cell. Sodium is the extracellular space cation and the…
CF is caused by a mutation in the gene “cystic fibrosis transmembrane conductance regulator” (CFTR) on chromosome seven. 70% of all mutations in the gene involve the deletion of 3 nucleotides resulting in loosing the amino acid phenylalanine in position 508 , naming this mutation ∆F508. There are over 1500 other mutations, however, that can produce CF. Most people have 2 functioning allele of the CFTR gene and CF develops when both are faulty.…
will occur if the mutation is on the maternally inheritetd chromosome 15. [See picture to the left] This accounts…
Cystic fibrosis is a single gene disorder, with an autosomal recessive pattern of inheritance. The gene is located on the long ‘q’ arm of chromosome 7 and is called the cystic fibrosis transmembrane conductance regulator (CFTR) gene (2). The gene product is an apical membrane…
Doctors believe that it is because of obesity. It is more common in most girls with an African heritage who started walking at an early age and a family member who had it.…
Patients who choose to undergo blepharoplasty fall into one of two categories: functional or aesthetic. If you are a patient who needs blepharoplasty for functional reasons, you undoubtedly believe that the operation is necessary. A drooping or deformed eyelid can truly affect quality of life. Those who wish to have blepharoplasty for cosmetic reasons must weigh the costs with the benefits. Should you opt for the procedure? Read below as we examine what the operation entails, what you can expect from the end result and if it is an avenue you ultimately should explore.…
Of the eleven loci responsible for this syndrome, nine have already been identified. The proteins that are encoded by these genes are actually part of a dynamic protein complex that occurs in the hair cells of the inner…
Deformed facial features (small widely spaced eyes, underdeveloped jaw, thin upper lip, and short upturned nose).…
MFS is a highly variable systemic tissue disorder with clinical characteristics similar to a variety of other hereditary disorders from which it should be distinguished. MFS is almost exclusively inherited in an autosomal dominant manner, although case reports have described rare recessive FBN1 mutations [4]. While most individuals with MFS have an affected parent, 25 percent or more of probands have MFS as the result of a de…
Ms Amge has a condition called achondroplasia, a form of dwarfism, and is not expected to grow further.…