patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
P-gene-related oculocutaneous albinism (OCA2) is an autosomal recessive disorder. The phenotype is typically somewhat less severe than that of the tyrosinase-negative type (OCA1A). One of the mutations in the P gene, A481T, is associated with a mild phenotype, occasionally with no distinctive skin manifestations, which is called subclinical OCA. We present a Japanese patient having the A481T mutant allele in the P gene with subclinical oculocutaneous albinism diagnosed on getting severely sunburned. The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world.
Kawai M, Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
MK - I'm not understanding this: In medicine, a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms.
This particular version of the study is making it sound like this person had brown skin but still got sunburned.
Posted by the lioness, (Member # 17353) on 26 December, 2012 03:50 PM:
quote:Originally posted by Mike111: [QB] MK - I'm not understanding this: In medicine, a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms.
Mike I thought you knew this
the mother is a carrier
Posted by the lioness, (Member # 17353) on 26 December, 2012 03:58 PM:
quote:Originally posted by Narmerthoth: patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
P-gene-related oculocutaneous albinism (OCA2) is an autosomal recessive disorder. The phenotype is typically somewhat less severe than that of the tyrosinase-negative type (OCA1A). One of the mutations in the P gene, A481T, is associated with a mild phenotype, occasionally with no distinctive skin manifestations, which is called subclinical OCA. We present a Japanese patient having the A481T mutant allele in the P gene with subclinical oculocutaneous albinism diagnosed on getting severely sunburned. The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world.
Kawai M, Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
A481T is rare. But compared to other populations it is relatively common in Cuacasians and Japanese
NLRP7-BASED DIAGNOSIS OF FEMALE REPRODUCTIVE CONDITIONS
[0047] FIG. 2: (A) Comparison between the reproductive outcomes of patients with one or two defective alleles, n, indicates the total number of pregnancies of patients from each category. In this figure, only major categories of reproductive wastage are shown, the other rare forms (blighted ovum, ectopic pregnancy, elective abortion, malformed baby) observed in small numbers (between 2 and 6) were either removed or fused with related categories. (B) Correlation between the nature of NLRP7 mutations and the histopathological diagnosis of products of conception (POCs) established by two pathologists. (C) Genomic and protein structures of NLRP7. (D) Distribution of the different types of NLRP7 mutations in its three domains. Distribution of mutations and variants found in the three categories of patients and of mutations listed on INFEVERS (INFEVERS: an online database for autoinflammatory mutations. Copyright. Available at http://fmf.igh.cnrs.fr/ISSAID/infevers/; refs [26 to 28]). "inter", indicates amino acid between two domains; and "after", indicates amino acids after the LRR domain. First bar (black) = total mutations or variants; second bar (dark gray) = protein-truncating mutations; third bar (light gray) = missense mutations; fourth bar (white) = non- synonymous variants; [0048] FIG. 3: ](A) IL1 B and TNF secretion by ex vivo stimulated PBMCs with lipopolysaccharides (LPS) from 5 patients with A481T and other rare NSVs in NLRP7.The patients included in this analysis are 698, 754, 819, 821 and 830. Each patient has one copy of A481T with or without other rare NSVs (Table 5). PBMCs from 7 subjects without A481T and any of the other rare NSVs were used as controls. Patients carrying A481T and other rare NSVs secrete significantly lower amounts of IL1 B and TNF than controls not carrying these variants (p<0.0001).(B) Cell lysates of LPS stimulated PBMCs from five patients and the same control were subjected to immunoblots to determine the levels of pro-IL1 B and mature IL1 B. The levels of mature IL1 B were normalized to those of β-actin. IL1 B is not constitutively expressed by PBMCs. Upon stimulation, PBMCs from the patients and control produce variable amounts of intracellular pro and mature IL1 B as reported in healthy subjects and none of them has defective IL1 B processing (C) Comparison of the ratios of patient-to-control (patient/control) of intracellular mature IL1 B, quantitated by the Image J software, and the ratios of secreted IL1 B in the extracellular milieu measured by ELISA (patient/control). This analysis showed that patients' cells secrete lower amounts of the produced mature intracellular IL1 B than controls.
_________________________________________________
If you want to prove A481T is common in Caucasians and japanese not relatively but generally you will have to produce some numbers, addition percentage data on frequency.
Otherwise back to your mouse hole
Posted by Narmerthoth (Member # 20259) on 26 December, 2012 04:05 PM:
quote:Originally posted by Mike111: MK - I'm not understanding this: In medicine, a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms.
This particular version of the study is making it sound like this person had brown skin but still got sunburned.
Mike, in this instance, sub-clinical is being used to describe a condition where the traits of albinism do not fall squarely into the complete list of symptoms, yet the condition exists due to teh dominance of the OCA gene defect. This is another way of stating, without being obvious, that Europeans (Whites) and most Asians are indeed Albinos without showing all of the major symptoms for example, as in Asians, having black/brown eye colour, black or dark brown hair, or type 2 or 3 skin types.
Isn't this in-line with the argument whites present against their being albinos, yet as the study shows, they are albinos.
Posted by the lioness, (Member # 17353) on 26 December, 2012 04:11 PM:
Mike you raised a reasonable question
Narmertot is now doing the two step, three card monte
It's there in plain English like you pointed out:
a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms
This is the case in many autosomal recessive diseases, Cystic Fibrosis, Sickle Cell Anemia etc etc
Namertot you messed up, shot yourself with your own gun> lioness productions
Posted by Narmerthoth (Member # 20259) on 26 December, 2012 04:15 PM:
quote:Originally posted by the lioness,:
quote:Originally posted by Narmerthoth: patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
P-gene-related oculocutaneous albinism (OCA2) is an autosomal recessive disorder. The phenotype is typically somewhat less severe than that of the tyrosinase-negative type (OCA1A). One of the mutations in the P gene, A481T, is associated with a mild phenotype, occasionally with no distinctive skin manifestations, which is called subclinical OCA. We present a Japanese patient having the A481T mutant allele in the P gene with subclinical oculocutaneous albinism diagnosed on getting severely sunburned. The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world.
Kawai M, Suzuki T, Ito S, Inagaki K, Suzuki N, Tomita Y Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
A481T is rare. But compared to other populations it is relatively common in Cuacasians and Japanese
If you want to prove A481T is common in Caucasians and japanese not relatively but generally you will have to produce some numbers, addition percentage data on frequency.
Otherwise back to your mouse hole
Stupid, I have no need to "prove" anything since the study conclusion is obvious in that nowhere does it seek to use "relative" as a comparison to others. Instead It clearly uses "relatively common" in the sense that it has been determined that OCA2 is an average trait across Asian and Caucasians.
If I'm wrong, show where it supports the lie you present.
Regarding this additional stupid statement you attempt to present;
"a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms This is the case in many autosomal recessive diseases, Cystic Fibrosis, Sickle Cell Anemia etc etc"
As is commonly known, autosomal genetic disease such as Cystic Fibrosis is COMMON among Ashkenazi Jews. As above, the use of "common" indicates that it is present as an average across the general Ashkenazi population. In the case of Cystic Fibrosis, it is COMMON among over 93% of all Ashkenazi Jews tested. So, once again, your attempted lie dissolves into a pool of sulphur.
Posted by Mike111 (Member # 9361) on 26 December, 2012 05:29 PM:
quote:Originally posted by Narmerthoth:
quote:Originally posted by Mike111: MK - I'm not understanding this: In medicine, a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms.
This particular version of the study is making it sound like this person had brown skin but still got sunburned.
Mike, in this instance, sub-clinical is being used to describe a condition where the traits of albinism do not fall squarely into the complete list of symptoms, yet the condition exists due to teh dominance of the OCA gene defect. This is another way of stating, without being obvious, that Europeans (Whites) and most Asians are indeed Albinos without showing all of the major symptoms for example, as in Asians, having black/brown eye colour, black or dark brown hair, or type 2 or 3 skin types.
Isn't this in-line with the argument whites present against their being albinos, yet as the study shows, they are albinos.
Okay, now I get it.
Posted by the lioness, (Member # 17353) on 26 December, 2012 06:21 PM:
quote:Originally posted by Narmerthoth:
Regarding this additional stupid statement you attempt to present;
"a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms This is the case in many autosomal recessive diseases, Cystic Fibrosis, Sickle Cell Anemia etc etc"
As is commonly known, autosomal genetic disease such as Cystic Fibrosis is COMMON among Ashkenazi Jews. As above, the use of "common" indicates that it is present as an average across the general Ashkenazi population. In the case of Cystic Fibrosis, it is COMMON among over 93% of all Ashkenazi Jews tested. So, once again, your attempted lie dissolves into a pool of sulphur. [/QB]
You stupid clown. The quote above begins with Mike's statement earlier in this thread
quote:Originally posted by Mike111: [QB] MK - I'm not understanding this: In medicine, a disease is considered asymptomatic or subclinical, if a patient is a carrier for a disease or infection but experiences no symptoms.
I added to that. This is the case in many autosomal recessive diseases, Cystic Fibrosis, Sickle Cell Anemia etc etc
This means you can be a carrier but not have the disease you chump. Of course you could also have the disease with all it's symptoms.
So what Mike said is true, he just doesn't want to believe it because of his delicate emotional state. Then he went for the pathetic okie doke when you made up a compleely deceitful bullshyt reply.
again for the preschoolers:
Posted by Narmerthoth (Member # 20259) on 26 December, 2012 06:50 PM:
^ Look at the dunce who constantly is shown to be a fool and is always forced to play the idiot in an attempt to lessen her humiliation.
She says that Cystic Fibrosis and A481T are RARE and uncommon, yet as usual the facts show her as being just another absent minded albino.
If Cystic Fibrosis and A481T are rare then why are they unusually common (relatively common) within a specific population?
Cystic Fibrosis (CF) is a multi-system disorder that causes the body to produce a thick mucus.The mucus accumulates primarily in the lungs and the digestive tract, resulting in chronic lung infections and poor growth.CF does not affect intelligence.The carrier rate for CF among all Caucasian individuals is approximately 1 in 25.The CF carrier test has a detection rate of 97% in the Ashkenazi Jewish population.
The foolish Jew is forced to weep and gnash it's wooden teeth once again. LMBAO!
Posted by the lioness, (Member # 17353) on 26 December, 2012 07:43 PM:
A481T is barely even known.
I never said Cystic Fibrosis is rare but it is rare
Ashkenazi Jews have a high carrier rate. It's slightly higher in Tunisian Jews. But as I have been explaining to your dumb asses if you are a carrier it doesn't mean you have the disease. For example ^^^ the baby is an albino, but the baby is an albino because her mother is a carrier. Yet she has no symptoms. learn it jackasses. The carrier rate is much larger than the number of people who have the disease with symptoms
Among Ashkenazi Jews, the frequency of people who have the disease and it's symptoms is 1 in 3300, which is similar to the frequency in most Caucasian populations. Approximately 1 in 25 people of European descent, and one in 30 of Caucasian Americans is a carrier of a cystic fibrosis mutation. 1 in 65 Africans and 1 in 90 Asians carry at least one abnormal CFTR gene.
Ireland has the world's highest incidence of cystic fibrosis, at 1:1353 ( other sources 1: 1800), Ireland still highest followed by the UK, Scotland, Switzerland, France, and Italy. 1 in 19 people in Ireland carrying the gene responsible for cystic fibrosis. The prevalence of CF is highest in Caucasians (1 in 2500) and Ashkenazi Jews (1 in 2300) http://www.clinchem.org/content/57/6/841.full
I only mentioned Cystic Fibrosis to demonstate an example of an autosomal recessive inhertitance disease. I also mentioned sickle cell. Of course Narmertot being the Nazi that he is wants to get off the A481T thing and start masturbating off cystic fibrosis Jew hate, he's a sick little puppy
Posted by Narmerthoth (Member # 20259) on 26 December, 2012 08:14 PM:
quote:Originally posted by the lioness,: A481T is barely even known.
Ireland has the world's highest incidence of cystic fibrosis, at 1:1353 ( other sources 1: 1800), Ireland still highest followed by the UK, Scotland, Switzerland, France, and Italy. 1 in 19 people in Ireland carrying the gene responsible for cystic fibrosis. The prevalence of CF is highest in Caucasians (1 in 2500) and Ashkenazi Jews (1 in 2300) http://www.clinchem.org/content/57/6/841.full
I only mentioned Cystic Fibrosis to demonstate an example of an autosomal recessive inhertitance disease. I also mentioned sickle cell. Of course Narmertot being the Nazi that he is wants to get off the A481T thing and start masturbating off cystic fibrosis Jew hate, he's a sick little puppy
You are just stupid.
Idiot, being a carrier indicates that you carry primary and/or secondary gene defect. In whites, this is most common as the study stated.
I posted several articles 2 years ago which specifically addressed the prevalence of A481T deletions among whites. This Asian manufactured research is simply confirmation of what was posted. Of course, albino whites will even insist that Albinism is rare. We now know and understand why this is just white lies as you are attempting to present.
Fool, even your tiny mind should be able to remember viewing this chart posted here about A481T over 3 years ago.
Tell me fool, do you remember the specifics of the text accompanying the above figure?
Posted by the lioness, (Member # 17353) on 27 December, 2012 01:59 AM:
You have posted a chart with no related information as to the key to the chart so it's meaningless without sourced information. That's tricknology, take things out of context, chop off infor intentionally
You do stuff like this to try to fool idiots "oh he posted a chart he must know what he's talking about" Your tactist are very weak and thin to someone like me.
Either you have bottom line figures on disease rates or you need to be quiet. In an autosomal recessive disorder like albinism or sikle cell a person needs to have not one but two copies of the mutant gene to manifest symptoms /close thread
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome
The A481T mutation has previously been found in an African-American patient with P related autosomal recessive ocular albinism,3 as well as in one of 50 unrelated controls.4 The frequency of OCA2 is approximately 1/40 000 and 1/10 000 in whites and in African-Americans, respectively.1 12 Carrier frequency is thus estimated to be 1/50-1/100. The carrier frequency of A481T reported by Leeet al 4 may have been overestimated, since previous studies have not shown that A481T is a predominant mutation in OCA2.3 12 13
Posted by Narmerthoth (Member # 20259) on 27 December, 2012 04:41 AM:
^ I'm just saying that due to your tactic of playing the fool, you are dull, not too bright, unoriginal and boring.
We know that Albinism originated in Africa creating African albinos well before the first migrations.Albinism created strong incentive for Africans to migrate into regions with lesser UV index in Caucasus, central Asian and Europe where interbreeding created the worst extreme genetically defective albinos, Ashkenazis and sub-clinical Gentile albinos.
We have already proven that OCA2 is dominate in whites, well above the reported frequency, as indicated by the above posted Asian study.
How do we know that all whites are albinos? Simply because albinism is so dominate in whites, they had to identify a gene they carry responsible for their condition. The gene is actually a missense relabeled as normal. This is; OCA2 (oculocutaneous albinism type II) gene. All whites carry the OCA gene defect while only African OCA carriers possess it in the African community.
When asked, whites will respond that this woman (or is it a man?) is not an albino. Yet, the woman displays all of the clinical symptoms of albinism including the OA components. This albino appears physically like your average white person.
And so do both of these. They do not appear as OCA1 candidates, but both certainly falls directly in the middle of being OCA2 albinos, like all whites.
patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
P-gene-related oculocutaneous albinism (OCA2) is an autosomal recessive disorder. The phenotype is typically somewhat less severe than that of the tyrosinase-negative type (OCA1A). One of the mutations in the P gene, A481T, is associated with a mild phenotype, occasionally with no distinctive skin manifestations, which is called subclinical OCA. We present a Japanese patient having the A481T mutant allele in the P gene with subclinical oculocutaneous albinism diagnosed on getting severely sunburned. The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world. Posted by Troll Patrol (Member # 18264) on 27 December, 2012 12:52 PM:
This upcoming summer is going to be extremely hot.
Hotter than ever before!
Posted by the lioness, (Member # 17353) on 27 December, 2012 12:55 PM:
quote:Originally posted by Narmerthoth: [QB] ^ I'm just saying that due to your tactic of playing the fool, you are dull, not too bright, unoriginal and boring.
We know that Albinism originated in Africa creating African albinos well before the first migrations .Albinism created strong incentive for Africans to migrate into regions with lesser UV index in Caucasus, central Asian and Europe
yes 40,000 years ago
quote:Originally posted by Narmertot:
We know that Albinism originated in Africa
/close thread
Posted by the lioness, (Member # 17353) on 27 December, 2012 12:58 PM:
quote:Originally posted by Troll Patrol: This upcoming summer is going to be extremely hot.
Hotter than ever before!
you are hoping more people get cancer? be honest
Posted by IronLion (Member # 16412) on 27 December, 2012 02:59 PM:
quote:Originally posted by the lioness,:
quote:Originally posted by Troll Patrol: This upcoming summer is going to be extremely hot.
Hotter than ever before!
you are hoping more people get cancer? be honest
No, incorrect.
We hope you will melt like wax....
Posted by Narmerthoth (Member # 20259) on 27 December, 2012 05:23 PM:
quote:Originally posted by Troll Patrol: This upcoming summer is going to be extremely hot.
Hotter than ever before!
I'm sure.
We can expect more albinos to go on mass murder sprees. Protect yourselves.
