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This is just a paragraph on why one would use whole exome sequencing instead of whole genome sequencing to find a variant of Leber's congenital amaurosis. Leber's congenital amaurosis is characterized by atrophic macular lesions, pale optic disk, reduction of retinal blood vessels, pigment disruption, and scattered pigment clumping in the peripheral retina. It is an inherited retinal disorder and the most common variants are at the gene NMNAT1. Why would you use whole exome sequencing to find a variant in a family that has been affected by this disease?
exome: part of the genome formed by exons, coding portions of genes,
- because most known mutations that cause disease occur in exons,
- cheaper than whole-genome tests,
- in this example, good for testing already present mutations, proven to be successful
- most alleles known to underlie Mendelian disorders disrupt protein-coding sequences
- a lot of rare, protein-altering variants (missense, non-sense single-base substitutions, INDELs) are predicted to have functional
consequences and/or be deleterious
- the exome presents a highly enriched subset of the genome in which to search for variants w/ large effect sizes
One source found state that Whey protein can potentially be the treatment for type 2 diabetes. The main reasoning behind this statement is that it can manipulate the gut function in order to secret incretin and reduce gastric emptying which are key components for type 2 diabetes. Whey protein stimulates beta cells to secrete these gut peptides, to include incretin, which then leads to the slower metabolizing and slower gastric emptying once an individual has consumed their meal, this is because it suppresses appetite and effects the gut-brain axis and hypothalamus, which is responsible for controlling hunger and homeostasis, which includes these peptides (Mignone et al. 2015). In addition, in a clinical trial in which men with type 2 diabetes were given 15g of Whey protein, the consumption of this protein was proven to improve glycaemia after means were consumed, increase secretion of insulin. This trial proves the suggestions made by Mignone through its evidence and direct relevance of the valid conclusions made (King et al. 2018).
A study on a healthy 27-year-old patients who has taken a reportedly safe concentration of Whey protein was found to have a profound case of jaundice due to his protein and creatine intake, therefore linking back to a kidney malfunction. The laboratory tests had concluded elevated bilirubin concentrations in his liver which is the yellow pigmentation due to the breakdown of hemoglobin. The individual had been using Whey protein 4 weeks and creatine 9 weeks, prior to the arrival of the symptoms. They concluded that the supplements were the cause of his kidney malfunction. I do not believe this case study has sufficient evidence or relevance in the represented topic. One reason being that it is a single subject which leaves error to be great. Another reason being that he had been taking other supplements that could have caused his profound case of jaundice. Their assumption is not fully backed by a vast trial but rather a single case (Whitt et al. 2008).
Another clinical trial was tested to show the impact of Whey protein intake on renal function. In a trial with 1624 women, a group with normal renal function and another with mild renal efficiency, glomerular filtration rate (GFR) was used to estimate the kidney functionality and efficiency. This study was conducted over a 11-year span to further give valid conclusions. In conclusion of the 11-year trial, they found the GFR to be 0.25 mL/min per 1.73 m2 per 10g increase in protein intake as oppose to 1.14 mL/min per 1.73 m2. This conclusion states that high protein intake does not associate with a reduced renal functionality in women with normal renal function. However, it does increase the declination functionality rate of women who already have reduced renal function. This trial does have sufficient evidence and relevant to the represented topic because it shows the long-term effects of an increase protein intake on kidney function. The assumptions are valid because the trial size was large and over a long-time span which gives a more accurate conclusion (Knight et al. 2003).
Another source set out to prove the improvements in health in cancer patients receiving chemotherapy. A scientific trial conducted stated that cancer patients receiving chemotherapy have side effects such as a weakened immune system and malnutrition. In the study, 42 cancer patients who received chemotherapy were blindly split into an experimental, 23 patients, and control group, 19 patients. It was shown that the experimental group that was given 42g of Whey protein every day for 12 weeks, had improved nutritional status and a boosted immune system than the control group which did not receive it. I believe that this piece of evidence is relevant and representative for the benefits of Whey protein, and even though the size of the trial groups were not large, they had enough data to give a conclusion. The assumptions based on the evidence, and clinical trials are valid because the conclusion of the trial showed the physical improvements of these individuals when compared to those who did not get treated with the Whey protein (Bumrungpert et al. 2018).
P. hydrobothynus is a sexually dimorphic species of otter. The male otters have very large and colorful mane made of orange, yellow, and red and a dark brown body with a white underside. They have a short stocky body, a short fat tail, and a much more robust pectoral girdle. Males are usually only 1 meter long, and 0.35 meters tall. The female otters are dark brown in color with a white underside and are camouflaged in the murky water and muddy banks. The female stellar river otters are built like a traditional river otter and are very streamline with a long wing-like tail, and a longer skinnier body. Females tend to be roughly 1.2 meters long, and are 0.2 m tall. The male and female both have very thick fur to stay dry and for insulation. The two sexes are so morphologically different they were first thought to be different species; however, a distinct red diamond pattern on the chest of this species was the first clue that the discoverers had in determining they were the same species.
Like most species of otters when the pride is together they spend most of their time playing and frolicking in the water. This species is incredibly rambunctious and has been known to mess with boats traveling through the territory. There is one case of a few females boarding a small canoe and stealing the belongings of the person on board.
The females will typically be pregnant for 65-80 days. The young are born fully covered in fur and are able to open their eyes after just a week. The pups are able to walk around and swim just after they are able to open their eyes. This rapid development is supported by the constant support and protection of the pup by the pride. When they are young male and female pups look morphologically similar. It isn’t until they reach eight months old that the males begin to develop secondary sex characteristics. Their pectoral girdle starts to get larger and a small brown mane begins to form. The young males will begin to forage with the dominant male when they are a year old and are first taught to hunt for insects. It isn’t until they have been foraging for a month that the dominant males will allow the young males to begin hunting for A. galactonotus. After a few months of eating the frogs the color of the young males’ mane changes from dark brown to hues of bright red, orange and yellow. It has been observed that the primary color of frog that the males eat will determine the proportions of red, orange, and yellow in their mane. The amount of frogs that the male eats also determines how bright his mane will be. Males that are not able to eat many frogs may have a dull colored mane, or it may not be colored at all. The males that are the best at foraging and have the best territory will have the biggest and brightest manes. The female’s preference for the amount of each color they like in the male's mane has yet to be explored, however, it has been observed that they do prefer males with very large manes.
Unlike the males, the female stellar river otters are much more docile and spend most of their days working together hunting and taking care of the young. They only rely on the male to construct and maintain the dens and to defend the territory. The females of this species have a very different social structure than the males of this species. Females of neighboring territories are capable of coexisting and leaving one another alone. This allows there to be many rafts of females throughout a single river system and makes it easy for young females to easily find a new raft if they so desire.