Monthly Archives: October 2016

Hereditary Endowments

114Hereditary endowments are one of the events that take place during fertilization.

The chromosomes in mature male cell contain nearly 40,000 to 60,000 genes and the equal number in a mature ovum, i.e., female cell. Thus the newly produced baby’s hereditary endowment contains 80,000 to 1,20,000 genes, each carrying potentials for physical and mental traits.

The inherited characteristics of a baby is determined the possible combinations of chromosomes passed from different ancestors on the maternal or paternal side. Thus the union of sperm and ovum means the blending of two distinct hereditary lines will result into newly conceived individual. This baby form its own distinct personality by inheriting characters from parents, grandparents and other more remote ancestors.

Though most of the inherited characteristics are influenced by environment, other characteristics like eye color and skin texture are not influenced by environmental conditions. Favorable environmental conditions, stimulates genetic prospective while unfavorable environmental conditions throttle this development.

Laws of heredity determine what we are to be and what we will do in this world by third or fourth week of our prenatal existence. The genes thus transferred may also carry diseases to progeny also along with them. These disorders may develop either due to suffering of mother from some infection or due to side effect of certain drugs or chemicals or exposure to radiation during pregnancy. Rubella can result in the baby born with a heart defect, mental retardation etc. Other innate problems involve Down’s syndrome, hemophilia, sickle cell anemia, Color blindness, Neurofibromatosis, Cystic fibrosis, Celiac disease, Canavan disease to name a few. About an average of 2% babies are born with serious diseases.

Factors Affecting Physical Development

The physical development of an individual in their life is greatly affected by hereditary endowments which took place at the time of conception. Hereditary endowments place limits beyond which an individual cannot go. The hereditary endowment is purely a matter of chance; it cannot be controlled by any means.

Both environmental and hereditary factors combined together to have a significant effects on physical development of a child. Below are some of the heredity characters that affects physical traits and growth of child:

In Heredity Genes are passed from both the parents to an individual. These Genes carry information about height, weight, skin color, eye color, hair color, cognitive and mental processes through generations.

Dominant and Recessive
There are always a recessive gene and a dominant gene. The characteristic that will appear physically in front of all is according to the information carried by dominant genes. For instance, if one parent has dark hair and the other has light, the dominant gene will determine the color of the resulting child’s hair.


The physical development in children is measured in milestones at specific ages. Physicians use these developmental milestones to gauge the growth of the child. He can monitor if the child is making adequate physical progress or not.

Sometimes an abnormality occurs in the DNA of parents which is carried to offsprings. This abnormality results in physical disorders in a child. The Genetic disorders cause cerebral palsy, spina bifida, and cystic fibrosis, like physical disabilities.

Warning Signs & Symptoms of Pituitary Tumors

113Hormones produced by the pituitary gland control functioning of many other glands within the body. Hormones which are produced by the pituitary gland include prolactin, adrenocoticotropic hormone (ACTH), growth hormone, thyroid stimulating hormone & luteinizing hormone (LH). Having certain genetic conditions is generally found to increase risk of developing tumors. Whatever is found to increase risk of developing a medical condition is known as a risk factor. However, having a certain risk factor does not mean that a person will develop cancer. Patients must therefore talk to neurologists in case they think they are at risk of developing brain tumors. Risk factors for developing pituitary tumors include the following hereditary diseases.

· Carney Complex

· Multiple Endocrine Neoplasia Type 1 (MENI 1) Syndrome

· Isolated Familial Acromegaly

Signs & Symptoms of Pituitary Tumors

Signs & symptoms of pituitary tumors normally include problems with vision & certain physical changes. These can be caused either by growth of tumor or by hormones which the pituitary adenoma is making or with other types of conditions. Moreover, some pituitary tumors may cause no signs or symptoms at all. However, people must check with their doctors in case they are having any of these problems.

· Signs & Symptoms of Non-Functioning Pituitary Tumors

There are cases where tumors are found to be pressing or even damaging parts of pituitary gland & thereby causing the gland to stop producing one of more hormones. Lesser quantity of a certain hormone will eventually affect the working of gland or hormone over which the hormone exerts control. In these situations the following signs & symptoms may occur.

o Headache

o Loss of body hair

o Partial loss of vision

o Less frequent or no menstrual periods or no milk from breasts in some women

o Lower sex drive in both men & women

o Loss of facial hair in men along with growth of breast tissue & impotence

o Slow growth & sexual development in children

Most types of pituitary adenoma which make FSH & LH generally do not make enough extra hormones so as to cause any signs & symptoms. These tumors are therefore considered as non-functioning tumors.

· Signs & Symptoms of Functioning Pituitary Tumors

Signs & symptoms will eventually depend upon the type of hormone which is produced when functioning tumors are making extra hormones.

Too Much of Prolactin Can Cause the Following

o Headache

o Part loss of vision

o Less frequent or absence of menstrual periods or very light flow during menstrual periods

o Inability or trouble becoming pregnant

o Lower sex drive

o Impotence in men

o Breast milk flow in women who are neither pregnant or breast-feeding

Too Much ACTH May Cause the Following

o Headache

o Part loss of vision

o Lump of fat on the back of neck

o Weight gain in face, neck & trunk of the body along with thin arms & legs

o Growth of fine hair on face, upper back or arms

o Easy bruising

o Skin may have pink or purple stretch marks on chest or abdomen

o Anxiety, depression & irritability

o Bones which break easily

Too Much of Growth Hormone May Cause the Following

o Headache

o Part loss of vision

o Acromegaly – Growth of bones in face, hands & feet in adults

o Acromegaly – Whole body may grow larger or taller in children

o Sweating more than normal

o Joint pain

o Pauses or snoring in breathing during sleep

o Numbness or tingling in fingers & hands

o Dysmorphophobia – Extreme dislike or obsessive concern about one or more parts of the body

Too Much Thyroid-Stimulating Hormone May Cause the Following

o Irregular heartbeat

o Weight loss

o Shakiness

o Trouble sleeping

o Sweating

o Frequent bowel movements

Other General Signs & Symptoms of Pituitary Tumors

o Seizures

o Dizziness

o Confusion

o Nausea & vomiting

o Drippy or running nose concerning cerebrospinal & spinal cord leaks

Affordable Pituitary Tumor Treatments in India

Pituitary tumor surgery is a primary mode of treatment for both cancerous & noncancerous pituitary tumors. While neurosurgery around the world is exorbitant & may even cost the moon in some places, pituitary adenoma treatment in India for international patients is an excellent opportunity. Pituitary adenoma surgery costs in India are comparatively down to earth & without any compromise on quality. International patients who are willing to travel beyond their homeland can avail affordable pituitary adenoma surgery for all types of brain tumors at a fraction of the cost they would need to pay in countries like Australia, UK, Germany, Canada & United States.

Adult Genetic Screening, Testing, and Intervention: What Are the Consequences?

Newborn baby feet and letters of A, T, C G.

A longstanding concern about genetic screening and testing is that people at increased risk for a serious condition could face discrimination, which prompted passage of the Genetic Information Nondiscrimination Act (GINA) in 2008. Lawmakers have designed GINA to prevent discrimination from health insurers and employers. There is a question of whether it can be enforced 100 percent of the time.

Someone could obtain another individual’s private DNA information and tested without his or her prior knowledge or authorization. DNA is genetic material present in every cell of your body. DNA is extracted from not only blood but from saliva, skin cells, blood, and hair roots. DNA contains huge amounts of personalized information. We secrete it at all times. It is totally unique to each individual. It has in-depth information about blood-related family members. It can disclose information about your risk of illness. There is presently a potential risk that governments and companies can use it to identify and discriminate against individuals. Though its primary use is in criminal justice applications, DNA from large numbers of innocent people is being routinely stored for indefinite periods. Some states are considering privacy DNA related legislation aimed toward independent oversight and distribution of DNA information.

Direct-to-Consumer Genetic Testing (DTC) is experiencing explosive growth. Health providers do not need to approve this type of genetic testing. DTC is unregulated; there is no independent oversight. The primary marketing medium of DTC genetic testing is the Internet. The services offered range from predicting possible adverse reactions to medications to information for diagnosing genetic disorders. Companies offer subscriptions that are updated as new research and developments break ground. These tests claim to reflect intelligence level, decision-making ability, susceptibility to addiction and other traits. The consumer determines the credibility of the information. The apprehension is that results sent through the mail and/or Internet could be misinterpreted.

Genetic testing for disease has its limitations. Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Some conditions commonly tested for include: Autism, Down Syndrome, Autosomal Dominant Polycystic Kidney disease, breast cancer, colon cancer, prostate cancer, skin cancer, kidney disease, Crohn’s disease, Duchenne Muscular Dystrophy, Familial Hypercholesterolemia, hemophilia, Huntington’s disease, Parkinson’s disease, sickle cell disease, Tay-Sachs. There is a powerful benefit from genetic testing for some hereditary forms of colon cancer. Less is known about the history and preventative measures for breast cancer. A positive genetic test result can actually prevent the disease by leading people to have early colonoscopy screening to find and remove precancerous polyps. Geneticists and genetic counselors discuss with subjects more specifically about what a particular test will or will not convey, and can help him or her decide whether to undergo testing.

There are emotional impacts. Learning that you or someone in your family has or is at risk for a disease can be frightening. Some people could also feel guilty, angry, anxious, or depressed when they find out their results are positive. Negative results may give subjects a sense of false security. Many diseases and conditions have no effective preventative measures or treatments. There is a question as to whether or not an MRI is more effective toward detecting breast cancer than a mammography. The most effective treatment for breast cancer, Prophylactic mastectomy, is unpopular. Thus, the benefits of genetic testing are lesser than with colon cancer. When you weigh the fact that many diseases have no cure against genetic testing, it decreases its allure.

Predictive or pre-symptomatic genetic screening of individuals is done for families with histories of genetic disorders before any symptoms of the genetic disorder appear in order to discover if they are at risk for developing the disorder. However, only a handful of disorders are preventable or even treatable.

A bright spot on the horizon is Pharmacogenetics Testing, (PGT), the study of how variations in the human genome affect the response to medications, utilizes DNA taken from mouth swab to discover genetic variations that could affect a subject’s clinical responses to medications. Medical providers customize profiles are to fine-tune and tailor the administration of medications to each individual subject or patient.

A trend toward genetics may renew public interest in Eugenics, which is attempting to improve an ancestry or race or by removing undesirable traits from members of that race. It is presented as a mathematical theory. Positive eugenics improving the race by enhancing desirable traits intelligence memory physical ability extended life span. The public deemed Eugenics notorious due to the use in Nazi exploitation of the disabled and handicapped during World War II.

Celiac Genetic Tests Are Not All Equal and Some DQ2 Negatives May Not Be Completely Negative

111Genetic tests exist for Celiac disease and are highly accurate for determining the risk of the disease. When a complete genetic panel is performed the possibility that someone having or ever getting this autoimmune disease can be determined to an extremely high degree of certainty.

Unfortunately, some tests are misleading because they do not include a portion of the genetic pattern that may be present that can predispose to this gluten sensitivity disease though the report may imply absence of increased risk.

Some genetic tests can be done without a doctor’s order. Insurance coverage for the Celiac genetics is highly variable. A couple of laboratories can run the tests on samples obtained from a mouth swab that is painless and well accepted by children. Genetic testing can be done at any age while blood tests for Celiac are not recommended before a year of age. Celiac genetic tests are not affected by eating gluten or not.

If you do not have the commonly recognized HLA genetic patterns DQ2 or DQ8 that are associated with Celiac disease you are believed to not be at risk for the full autoimmune disease. You don’t need to be periodically retested. However, you still could be intolerant or sensitive to gluten. Knowing your genetics can be very helpful if you have a family member with Celiac disease or they or you have other autoimmune diseases associated with a risk of Celiac.

HLA DQ2 and DQ8 are the simple designations for complex white blood cell patterns or types that are known to be associated with an increase risk of Celiac disease. The HLA term stands for human leukocyte antigen. Leukocytes are white blood cells. Antigens are proteins that serve or elicit an immune response by the body. So, the HLA system is a complex set of proteins on the surface of white blood cells. Everyone has two copies of a DQ protein pattern. You get one copy of DQ from your mom and one from your dad. Having at least one copy of either is necessary and sufficient to develop the disease. Having two copies of either or one of both increases the risk even more.

These protein patterns are inherited just like the red blood cell proteins that constitute what is commonly known your “blood type”. I, for example, am A positive blood type. This means I have a pattern of proteins designated A and Rh+ on the surface of my red blood cells. On the other hand I have a white blood cell type pattern DQ2/DQ7 inherited from my parents. My Dad gave me a DQ2 and my Mom the DQ7. You have two DQ patterns on your white blood cells that you received from your parents and you give one of your DQ types to each of your children.

Since only a single copy of either DQ2 or DQ8 can be associated with an increase risk of developing Celiac disease, most laboratories test for the presence of either and simply report their presence or absence. However, knowing if you have one or two copies not only provides additional information about degree of your risk. It also may predict the severity. It also provides information about your parents and your childrens’ risk of inheriting an at risk gene. If you have DQ2 and DQ8 we know your complete DQ pattern. We also known one of your parents had at least DQ2 and the other DQ8. All of your children will either get a DQ2 or a DQ8. So, both your parents and all of your children are at risk for Celiac in that situation. If you have only copy of DQ2 or DQ8 then we only know that at least one of your parents had one copy of the risk gene and each of your children will have a 50-50 chance of inheriting such a risk gene from you.

Other non-HLA genetic factors are involved in the risk of celiac disease. These are still being worked out. However, one poorly understood and little known fact to most doctors and almost all patients is that HLA DQ2 and DQ8 testing done by some laboratories does not include the full spectrum of at risk components of these patterns. DQ2 and DQ8 are a summary blood type designations or serotypes for the presence of several protein subunits. There are alpha and beta subunits to these protein patterns. The beta subunit is the most influential and important component. Most laboratories only test for and report the beta subunit. However, the alpha subunit does carry risk on its own, albeit much less than the presence of the beta subunit or the presence of both alpha and beta subunit.

The most commonly used laboratories for celiac disease genetic testing in the U.S. are Kimball Genetics, LabCorp, Quest, Prometheus, and Enterolab. The Laboratory at Bonfils in Denver not only provides testing directly but also does the testing for several hospitals, Quest and Enterolab. Bonfils only does beta subunit testing. They report results of DQ2 and DQ8 negative based on the absence of the beta subunits associated with DQ2 and DQ8. However this is somewhat misleading since someone could have only the alpha subunit and be “partially” DQ2.

Though the risk of being “half” DQ2 positive from only having the alpha subunit is low overall it is still there. Furthermore, there are people who may believe that they are DQ2 or DQ8 negative based on testing from Bonfils, Quest or Enterolab. These people and/or their doctor may exclude the possibility that they have or are at risk for ever getting Celiac disease when in fact this may or may not be true.

The existence of DQ2 and DQ8 negative Celiac disease has been debated. It is probably clouded to some degree by this confusion about the genetics. Most experts assert that the presence of DQ2 or DQ8 is a requirement to develop the disease and their absence excludes the possibility. However, reports of DQ2 and DQ8 negative Celiac disease persist.

I have a couple of patients who have the positive results for the specific blood tests for CD, endomysial or tissue transglutaminase antibody; and classic biopsy features but were reported DQ2 and DQ8 negative by laboratories who only test for the beta subunit. Ideally, they should be re-testing for alpha unit positive “half” DQ2 or DQ8 but this will depend on their insurance coverage. In the meantime, I am remain concerned that many patients and doctors may be lulled into a false sense of security by negative genetic tests incompletely done or that diagnoses of Celiac disease may be or have been withdrawn on some individuals based on incomplete genetic results.

This issue of DQ2 and DQ8 testing is further complicated by reviews on the subject that are incomplete or vague. The best reviews I have found are by Ludvig Sollid and Benedicte Lie of Oslo, Norway “Celiac Genetics: Current Concepts and Practical Applications” Clinical Gastroenterology and Hepatology 2005 and Bourgey’s 2007 review. In a recent update article by Victorien, there is a general review the genetics of celiac disease including the association of myosin IXB gene (MYO9B). However, it doesn’t explain the DQ2 or DQ8 typing well. They conclude that “To date, only HLA-DQ2 or HLA-DQ8 typing is clinically relevant…” but fail to point out that HLA DQ2 and DQ8 typing should include both alpha and beta subunits.

It is clear that both HLA and non-HLA genetic factors are important in the risk of Celiac disease. However, the absence of the high-risk genes does not preclude adverse reactions to gluten including leaky gut, skin, digestive and neurological symptoms. When genetic testing is used to try to assess the risk or exclude CD then I recommend that full testing including both alpha and beta subunit typing. Hopefully more research will better define the genetics of both Celiac disease as well as non-celiac gluten sensitivity or the so called “gluten syndrome”.

Are Pearly Panile Papules Hereditary?

110Pearly penile papule, or Hirsuties Papillaris Genitalis in medical terms, is a skin condition characteristic to the male population. Men of all ages can be affected by this condition, which involves the apparition of one or more rows of dome topped papules on the upper part of the penis. It is not a painful condition. The patient experiencesonly a slight discomfort or little pain when the penis is in erection. However, because of its aspect, this condition can have serious effects at a psychological level. During the period when they have pearly penile papules, many patients lose their self-esteem and become more reticent when it comes to meeting new people and having new sexual partners. This leads to a self-isolation of the individual who has to deal with pearly penile papules.

Taking into consideration the above mentioned things it is normal that, as a parent, you may be worried about the fact that this skin condition can be genetically transmitted to your boy. Some men even refuse to have children while they have bumps on their penises, for fear of not transmitting this condition to the next generations. It is absolutely normal to avoid, by all means, that your child experiences the sensations you had to pass through. Yet, when it comes to pearly penile papules you do not have to worry, as this condition is not genetically transmitted. Thus, if your father had it, it is not necessary that you experience it too. Similarly, if you had it your child will not necessary have it. In fact, there are very few chances that two generations in a row should experience this condition. So, stop worrying about this thing, as this is not one of those diseases which all your male inheritors will have if you have.

Because pearly penile papules is a skin condition developed by the individual’s skin, even if your child develops this condition, it will have nothing to do with the fact that you suffered from it. Yet, even though it is not a condition which is genetically transmitted, you should still talk about it with your child, so that he will know exactly what it is in case he will also develop pearly penile papules. Just like all the other conditions and diseases of the genital apparatus, this condition may be hard to talk about, so your child may not have the courage to talk it over. Be you the first to start the discussion, so that he will not experience the same bad feelings you went through.