Friday, October 4, 2019

side effect of get punched in eyes

The side effect of get punched in eyes will be commotion retina and retinal edema; the symptom will be visual blur. It will be recovered soon for several hours and no need to take treat. It is the results of pupils' edema and congestion. If the vision is complete and no change as before, the eyeball is ok. The other side effect is fracture of eye socket, because the bones are thin between the connection of eyes and nose. The hyphema and lens dislocation as well as vitreous hemorrhage will also be the capable side effect of punched eyes. The last one is black eyes, it is maybe the most inevitable thing after punch.

The serious degree of the side effects you suffer after the punch depends on the heating degree of the punch. If it is a heavy one, you may get puffy eyes which should be covered with warm cloth to release the symptom. What's worse, the too much heavy punch may cause the retinal detachment if you have the high prescription. Thus, it is very dangerous to have the punch on the eyes. You'd better go to see the doctor and have a check.


Eye swelling, bruising, black eye
  • Causes: Being struck in the eye by a blunt object, such as a fist or a baseball.

  • Symptoms: Swelling and bruising around the eye

  • What to do: Apply an ice pack to reduce swelling. See an eye doctor as soon as possible to make sure there isn't any internal damage.

Blood in the white of the eye (subconjunctival hemorrhage)
  • Causes: Breakage of one of the small blood vessels in the white (sclera) of the eye, often due to minor injury

  • Symptoms: Blood in the white part of the eye, sometimes spreading over the entire eye, turning the sclera bright red. No pain, no vision loss, no blood in the iris/pupil area.

  • What to do: Treatment is not required, and the blood will clear by itself over time. It may be several weeks before the eye appears completely normal again.
Important: do not confuse this harmless condition with a more serious condition called hyphema (bleeding in the eye's interior, see below).

Blood in the interior of the eye (hyphema)
  • Causes: Significant blunt force trauma such as being punched or kicked in the face, or being hit with a baseball or hockey puck.

  • Symptoms: Blood pooling in the iris/pupil area of the eye, sometimes spreading into the sclera (white).

  • What to do: Seek medical attention immediately.


Sunday, September 29, 2019

What is the PSA test

What is the PSA test?

Prostate-specific antigen, or PSA, is a protein produced by normal, as well as malignant, cells of the prostate gland. The PSA test measures the level of PSA in a man’s blood. For this test, a blood sample is sent to a laboratory for analysis. The results are usually reported as nanograms of PSA per milliliter (ng/mL) of blood.
The blood level of PSA is often elevated in men with prostate cancer, and the PSA test was originally approved by the FDA in 1986 to monitor the progression of prostate cancer in men who had already been diagnosed with the disease. In 1994, the FDA approved the use of the PSA test in conjunction with a digital rectal exam (DRE) to test asymptomatic men for prostate cancer. Men who report prostate symptoms often undergo PSA testing (along with a DRE) to help doctors determine the nature of the problem.
In addition to prostate cancer, a number of benign (not cancerous) conditions can cause a man’s PSA level to rise. The most frequent benign prostate conditions that cause an elevation in PSA level are prostatitis (inflammation of the prostate) and benign prostatic hyperplasia (BPH) (enlargement of the prostate). There is no evidence that prostatitis or BPH leads to prostate cancer, but it is possible for a man to have one or both of these conditions and to develop prostate cancer as well.
Until about 2008, some doctors and professional organizations encouraged yearly PSA screening for men beginning at age 50. Some organizations recommended that men who are at higher risk of prostate cancer, including African American men and men whose father or brother had prostate cancer, begin screening at age 40 or 45. However, as more was learned about both the benefits and harms of prostate cancer screening, a number of organizations began to caution against routine population screening. Most organizations recommend that men who are considering PSA screening first discuss the risks and benefits with their doctors.
Currently, Medicare provides coverage for an annual PSA test for all Medicare-eligible men age 50 and older. Many private insurers cover PSA screening as well.

What is a normal PSA test result?

There is no specific normal or abnormal level of PSA in the blood, and levels may vary over time in the same man. In the past, most doctors considered PSA levels of 4.0 ng/mL and lower as normal. Therefore, if a man had a PSA level above 4.0 ng/mL, doctors would often recommend a prostate biopsy to determine whether prostate cancer was present.
However, more recent studies have shown that some men with PSA levels below 4.0 ng/mL have prostate cancer and that many men with higher levels do not have prostate cancer (1). In addition, various factors can cause a man’s PSA level to fluctuate. For example, a man’s PSA level often rises if he has prostatitis or a urinary tract infection. Prostate biopsies and prostate surgery also increase PSA level. Conversely, some drugs—including finasteride and dutasteride, which are used to treat BPH—lower a man’s PSA level. PSA level may also vary somewhat across testing laboratories.
Another complicating factor is that studies to establish the normal range of PSA levels have been conducted primarily in populations of white men. Although expert opinions vary, there is no clear consensus regarding the optimal PSA threshold for recommending a prostate biopsy for men of any racial or ethnic group.
In general, however, the higher a man’s PSA level, the more likely it is that he has prostate cancer. Moreover, a continuous rise in a man’s PSA level over time may also be a sign of prostate cancer.

What if a screening test shows an elevated PSA level?

If a man who has no symptoms of prostate cancer chooses to undergo prostate cancer screening and is found to have an elevated PSA level, the doctor may recommend another PSA test to confirm the original finding. If the PSA level is still high, the doctor may recommend that the man continue with PSA tests and DREs at regular intervals to watch for any changes over time.
If a man’s PSA level continues to rise or if a suspicious lump is detected during a DRE, the doctor may recommend additional tests to determine the nature of the problem. A urine test may be recommended to check for a urinary tract infection. The doctor may also recommend imaging tests, such as a transrectal ultrasoundx-rays, or cystoscopy.
If prostate cancer is suspected, the doctor will recommend a prostate biopsy. During this procedure, multiple samples of prostate tissue are collected by inserting hollow needles into the prostate and then withdrawing them. Most often, the needles are inserted through the wall of the rectum (transrectal biopsy). A pathologist then examines the collected tissue under a microscope. The doctor may use ultrasound to view the prostate during the biopsy, but ultrasound cannot be used alone to diagnose prostate cancer.

What are some of the limitations and potential harms of the PSA test for prostate cancer screening?

Detecting prostate cancer early may not reduce the chance of dying from prostate cancer. When used in screening, the PSA test can help detect small tumors that do not cause symptoms. Finding a small tumor, however, may not necessarily reduce a man’s chance of dying from prostate cancer. Many tumors found through PSA testing grow so slowly that they are unlikely to threaten a man’s life. Detecting tumors that are not life threateningis called “overdiagnosis,” and treating these tumors is called “overtreatment.”
Overtreatment exposes men unnecessarily to the potential complications and harmful side effects of treatments for early prostate cancer, including surgery and radiation therapy. The side effects of these treatments include urinary incontinence (inability to control urine flow), problems with bowel function, erectile dysfunction (loss of erections, or having erections that are inadequate for sexual intercourse), and infection.
In addition, finding cancer early may not help a man who has a fast-growing or aggressive tumor that may have spread to other parts of the body before being detected.
The PSA test may give false-positive or false-negative results. A false-positive test result occurs when a man’s PSA level is elevated but no cancer is actually present. A false-positive test result may create anxiety for a man and his family and lead to additional medical procedures, such as a prostate biopsy, that can be harmful. Possible side effects of biopsies include serious infections, pain, and bleeding.
Most men with an elevated PSA level turn out not to have prostate cancer; only about 25% of men who have a prostate biopsy due to an elevated PSA level actually are found to have prostate cancer when a biopsy is done (2).
A false-negative test result occurs when a man’s PSA level is low even though he actually has prostate cancer. False-negative test results may give a man, his family, and his doctor false assurance that he does not have cancer, when he may in fact have a cancer that requires treatment.

What research has been done to study prostate cancer screening?

Several randomized trials of prostate cancer screening have been carried out. One of the largest is the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, which NCI conducted to determine whether certain screening tests can help reduce the numbers of deaths from several common cancers. In the prostate portion of the trial, the PSA test and DRE were evaluated for their ability to decrease a man’s chances of dying from prostate cancer.
The PLCO investigators found that men who underwent annual prostate cancer screening had a higher incidence of prostate cancer than men in the control group but the same rate of deaths from the disease (3). Overall, the results suggest that many men were treated for prostate cancers that would not have been detected in their lifetime without screening. Consequently, these men were exposed unnecessarily to the potential harms of treatment.
A second large trial, the European Randomized Study of Screening for Prostate Cancer (ERSPC), compared prostate cancer deaths in men randomly assigned to PSA-based screening or no screening. As in the PLCO, men in ERSPC who were screened for prostate cancer had a higher incidence of the disease than control men. In contrast to the PLCO, however, men who were screened had a lower rate of death from prostate cancer (45).
A recent paper analyzed data from the PLCO using a complicated statistical model to account for the fact that some men in the PLCO trial who were assigned to the control group had nevertheless undergone PSA screening. This analysis suggested that the level of benefit in the PLCO and ERSPC trials were similar and that both trials were consistent with some reduction in prostate cancer death in association with prostate cancer screening (6). Such statistical modeling studies have important limitations and rely on unverified assumptions that can render their findings questionable (or more suitable for further study than to serve as a basis for screening guidelines). More importantly, the model could not provide an assessment of the balance of benefits versus harms from screening.
The United States Preventive Services Task Force has analyzed the data from all reported prostate cancer screening trials, principally from the PLCO and ERSPC trials, and estimated that, for every 1,000 men ages 55 to 69 years who are screened every 1 to 4 years for 10 to 15 years (7):
  • About 1 death from prostate cancer would be avoided
  • 120 men would have a false-positive test result that leads to a biopsy, and some men who get a biopsy would experience at least moderately bothersome symptoms from the biopsy
  • 100 men would be diagnosed with prostate cancer. Of those, 80 would be treated (either immediately or after a period of active surveillance) with surgery or radiation. At least 60 of these men would have a serious complication from treatment, such as erectile dysfunction and/or urinary incontinence.

How is the PSA test used in men who have been treated for prostate cancer?

The PSA test is often used to monitor patients who have a history of prostate cancer to see if their cancer has recurred (come back). If a man’s PSA level begins to rise after prostate cancer treatment, it may be the first sign of a recurrence. Such a “biochemical relapse” typically appears months or years before other clinical signs and symptoms of prostate cancer recurrence.
However, a single elevated PSA measurement in a patient who has a history of prostate cancer does not always mean that the cancer has come back. A man who has been treated for prostate cancer should discuss an elevated PSA level with his doctor. The doctor may recommend repeating the PSA test or performing other tests to check for evidence of a recurrence. The doctor may look for a trend of rising PSA level over time rather than a single elevated PSA level.

Tuesday, January 29, 2019

PKU Testing Genetic Health Risk reports

http://health.utah.gov/nsp/Disorders/MSMS/AA/PKU/Manual03GeneticsSymptoms_PKU_En.pdf

Genetic Health Risk reports*

5+ reports
  • BRCA1/BRCA2 (Selected Variants)
    Learn more
    Genetic risk based on a limited set of variants for breast, ovarian and other cancers
    3 variants in the BRCA1 and BRCA2 genes; relevant for Ashkenazi Jewish descent
  • Age-Related Macular Degeneration
    Genetic risk for a form of
    adult-onset vision loss
    2 variants in the ARMS2 and CFH genes; relevant for European descent
  • Alpha-1 Antitrypsin Deficiency
    Genetic risk for lung and liver disease
    2 variants in the SERPINA1 gene; relevant for European descent
  • Celiac Disease
    Genetic risk for gluten-related
    autoimmune disorder
    2 variants near the HLA-DQB1 and HLA-DQA1 genes; relevant for European descent
  • G6PD Deficiency
    Genetic risk for a form of anemia
    1 variant in the G6PD gene; relevant for African descent
  • Hereditary Hemochromatosis (HFE‑Related)
    Genetic risk for iron overload
    2 variants in the HFE gene; relevant for European descent
  • Hereditary Thrombophilia
    Genetic risk for harmful blood clots
    2 variants in the F2 and F5 genes; relevant for European descent
  • Late-Onset Alzheimer's Disease
    Genetic risk for a form of dementia
    1 variant in the APOE gene; variant found and studied in many ethnicities
  • Parkinson's Disease
    Genetic risk for a form
    of movement impairment
    2 variants in the LRRK2 and GBA genes; relevant for European, Ashkenazi Jewish, North African Berber descent
See sample report


Wellness reports

5+ reports
  • Alcohol Flush Reaction
  • Caffeine Consumption
  • Deep Sleep
  • Genetic Weight
  • Lactose Intolerance
  • Muscle Composition
  • Saturated Fat and Weight
  • Sleep Movement
See sample report


Traits reports

25+ traits
  • Ability to Match Musical Pitch
  • Asparagus Odor Detection
  • Back Hair (available for men only)
  • Bald Spot (available for men only)
  • Bitter Taste
  • Cheek Dimples
  • Cilantro Taste Aversion
  • Cleft Chin
  • Earlobe Type
  • Early Hair Loss (available for men only)
  • Earwax Type
  • Eye Color
  • Fear of Heights
  • Finger Length Ratio
  • Freckles
  • Hair Photobleaching (hair lightening from the sun)
  • Hair Texture
  • Hair Thickness
  • Light or Dark Hair
  • Misophonia (hatred of the sound of chewing)
  • Mosquito Bite Frequency
  • Motion Sickness
  • Newborn Hair
  • Photic Sneeze Reflex
  • Red Hair
  • Skin Pigmentation
  • Sweet vs. Salty
  • Toe Length Ratio
  • Unibrow
  • Wake-Up Time
  • Widow's Peak
See sample report


Carrier Status reports*

40+ reports
  • ARSACS
    1 variant in the SACS gene; relevant for French Canadian descent
  • Agenesis of the Corpus Callosum with Peripheral Neuropathy
    1 variant in the SLC12A6 gene; relevant for French Canadian descent
  • Autosomal Recessive Polycystic Kidney Disease
    3 variants in the PKHD1 gene
  • Beta Thalassemia and Related Hemoglobinopathies
    10 variants in the HBB gene; relevant for Sardinian, Cypriot, Italian/Sicilian, Greek descent
  • Bloom Syndrome
    1 variant in the BLM gene; relevant for Ashkenazi Jewish descent
  • Canavan Disease
    3 variants in the ASPA gene; relevant for Ashkenazi Jewish descent
  • Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
    2 variants in the PMM2 gene; relevant for Danish descent
  • Cystic Fibrosis
    29 variants in the CFTR gene; relevant for Ashkenazi Jewish, European, Hispanic/Latino descent
  • D-Bifunctional Protein Deficiency
    2 variants in the HSD17B4 gene
  • Dihydrolipoamide Dehydrogenase Deficiency
    1 variant in the DLD gene; relevant for Ashkenazi Jewish descent
  • Familial Dysautonomia
    1 variant in the IKBKAP gene; relevant for Ashkenazi Jewish descent
  • Familial Hyperinsulinism (ABCC8-Related)
    3 variants in the ABCC8 gene; relevant for Ashkenazi Jewish descent
  • Familial Mediterranean Fever
    7 variants in the MEFV gene; relevant for Arab, Armenian, Sephardic Jewish, Turkish descent
  • Fanconi Anemia Group C
    3 variants in the FANCC gene; relevant for Ashkenazi Jewish descent
  • GRACILE Syndrome
    1 variant in the BCS1L gene; relevant for Finnish descent
  • Gaucher Disease Type 1
    3 variants in the GBA gene; relevant for Ashkenazi Jewish descent
  • Glycogen Storage Disease Type Ia
    1 variant in the G6PC gene; relevant for Ashkenazi Jewish descent
  • Glycogen Storage Disease Type Ib
    2 variants in the SLC37A4 gene
  • Hereditary Fructose Intolerance
    4 variants in the ALDOB gene; relevant for European descent
  • Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related)
    3 variants in the LAMB3 gene
  • Leigh Syndrome, French Canadian Type
    1 variant in the LRPPRC gene; relevant for French Canadian descent
  • Limb-Girdle Muscular Dystrophy Type 2D
    1 variant in the SGCA gene
  • Limb-Girdle Muscular Dystrophy Type 2E
    1 variant in the SGCB gene; relevant for Amish descent
  • Limb-Girdle Muscular Dystrophy Type 2I
    1 variant in the FKRP gene
  • MCAD Deficiency
    4 variants in the ACADM gene; relevant for European descent
  • Maple Syrup Urine Disease Type 1B
    2 variants in the BCKDHB gene; relevant for Ashkenazi Jewish descent
  • Mucolipidosis Type IV
    1 variant in the MCOLN1 gene; relevant for Ashkenazi Jewish descent
  • Neuronal Ceroid Lipofuscinosis (CLN5-Related)
    1 variant in the CLN5 gene; relevant for Finnish descent
  • Neuronal Ceroid Lipofuscinosis (PPT1-Related)
    3 variants in the PPT1 gene; relevant for Finnish descent
  • Niemann-Pick Disease Type A
    3 variants in the SMPD1 gene; relevant for Ashkenazi Jewish descent
  • Nijmegen Breakage Syndrome
    1 variant in the NBN gene
  • Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)
    2 variants in the GJB2 gene; relevant for Ashkenazi Jewish, European descent
  • Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related)
    6 variants in the SLC26A4 gene
  • Phenylketonuria and Related Disorders
    23 variants in the PAH gene; relevant for Irish, Northern European descent
  • Primary Hyperoxaluria Type 2
    1 variant in the GRHPR gene
  • Rhizomelic Chondrodysplasia Punctata Type 1
    1 variant in the PEX7 gene
  • Salla Disease
    1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent
  • Sickle Cell Anemia
    1 variant in the HBB gene; relevant for African American, African descent
  • Sjögren-Larsson Syndrome
    1 variant in the ALDH3A2 gene; relevant for Swedish descent
  • Tay-Sachs Disease
    4 variants in the HEXA gene; relevant for Ashkenazi Jewish, Cajun descent
  • Tyrosinemia Type I
    4 variants in the FAH gene; relevant for French Canadian, Finnish descent
  • Usher Syndrome Type 1F
    1 variant in the PCDH15 gene; relevant for Ashkenazi Jewish descent
  • Usher Syndrome Type 3A
    1 variant in the CLRN1 gene; relevant for Ashkenazi Jewish descent
  • Zellweger Syndrome Spectrum (PEX1-Related)
    1 variant in the PEX1 gene
See sample report
https://www.23andme.com/dna-reports-list/

Topics in the Genetic Testing chapter


Forms and Documents

Test Details

PAH
  • Confirmation of a biochemical diagnosis
  • Carrier testing for at-risk relatives
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutations
  • Capillary Sequencing

Ordering

273
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs


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https://www.babycenter.com/0_carrier-screening-for-inherited-genetic-disorders_1453030.bc

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684636/




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