What Is Hypotonia?

H ypotonia is impairment  of muscle contraction that is characterized by abnormally low muscle tension or flaccid muscles. 

Normally, even when relaxed, muscles have a very small amount of contraction or tone that gives them a springy feel and provides some resistance to passive movement.  

Q: Why is muscle contraction impaired in hypotonia?

A: In hypotonia, muscle contraction is impaired due to a disconnect between nerve signals and responses of motor muscle. Motor muscles cause body parts to move such as the arms and legs.

Low muscle tone is not the same as low muscle strength, although these two conditions can co-exist.  Muscle tone is regulated by signals that travel from the brain to the nerves and stimulate the muscles to contract whereas muscle weakness is a problems of muscles themselves.

In babies this condition is called “floppy doll syndrome.”

What Is Hypotonia In Celiac Disease and/or Gluten Sensitivity?

What Is Delayed Puberty In Girls?

D elayed puberty in girls is a concerning condition characterized by decreased functional activity of the ovaries resulting in late onset of ovulation and secondary sex characteristics.

Q: When should puberty in girls begin?

A: Puberty in girls is a stage of reproductive development that occurs at the average age of 12.1 years (between the ages of 9 and 15 years) and ends in sexual maturity.

Secondary sex characteristics are breast development and appearance of pubic hair that is followed by underarm hair and white vaginal secretion. The first menstrual period (menarche) follows this sequence.

What Is Delayed Puberty in Girls In Celiac Disease and/or Gluten Sensitivity?

What Is Juvenile Type 1 Diabetes Mellitus?

J uvenile diabetes is type I diabetes mellitus that begins in childhood or before the age of 25 years. It is an inherited inflammatory autoimmune disease of the pancreas in which anti-islet autoantibodies destroy the islet cells of the pancreas that secrete insulin hormone, resulting in a lack of insulin.

Loss of insulin production results in failure to metabolize glucose. Glucose is a simple sugar that is a required source of energy for the body, especially the brain and muscles.

Juvenile diabetes is characterized by sustained fasting blood glucose levels above 126 mg/dL (hyperglycemia) with subsequent loss of glucose from the body by removal through the urine (glucosuria) as the body attempts to lower blood glucose, and cell starvation that follows.

That is, while glucose accumulates in blood, the body cannot access it. Without insulin treatment, this disorder quickly produces coma and ultimately results in death. In fact, it is 5th leading cause of death in the United States.

Q: How does insulin work?

A: Insulin moves glucose from the bloodstream into body cells where it is used or reformulated for high energy storage. For example, muscles can use glucose for immediate work or store it in the form of glygogen for later work, depending on need. Healthy insulin production keeps an 8 hour fasting blood glucose level to less than 100 mg/dL. Upon eating carbohydrate food, glucose is digested and absorbed from the small intestine into the bloodstream which then raises blood glucose levels. The elevated level is controlled by prompt action of insulin to lower it to below 140 mg/dL  within 2 hours of eating.

Insulin does not work alone. The islets of Langerhans manage glucose in the body. The islets are specialized formations located on the outer surface of the pancreas. The islets are composed of two different types of cells known as alpha and beta cells. These cells make the competing hormones that keep blood glucose within a healthy range.

Alpha cells secrete glucagon to raise blood glucose levels by triggering the body to release stored energy in the form of glycogen. In the opposite, beta cells secrete insulin to lower blood glucose by opening body cells so that glucose in blood can enter. Without insulin, glucose cannot enter cells but remains in the bloodstream where it accumulates.

Insulin is also needed to move magnesium into cells from the bloodstream. On the other side, magnesium is needed to produce insulin. Insulin has other functions such as building muscle and helping regulate cholesterol which directly impacts the sex hormones, estrogen, progesterone, and testosterone.

Onset of symptoms usually occurs over a period of days or weeks, although beta cell destruction can begin years earlier. The SEARCH for Diabetes in Youth multicenter study, funded by the Centers for Disease Control and Prevention (CDC) and the National Institutes of Health (NIH), has determined that based on data from 2002 to 2003, a total of 15,000 youth in the United States were newly diagnosed with type 1 diabetes each year. Non-Hispanic white youth had the highest rate of new cases of type 1 diabetes according to NIH.

Type 1A diabetes mellitus has become one of the most intensively studied autoimmune disorders. It is now possible to predict its development, beginning with HLA-encoded genetic susceptibility, followed by the development of a series of anti-islet autoantibodies.¹

What Is Juvenile Diabetes In Celiac Disease and/or Gluten Sensitivity?

Sources:

1. Liu E, Eisenbarth GS. Type 1A diabetes mellitus-associated autoimmunity. Endocrinology and Metabolism Clinics of North America. Jun 2002;31(2):391-410, vii-viii. [↩]

What Is Chronic Bullous Dermatosis Of Childhood?

C hronic bullous dermatosis of childhood, also termed linear IgA dermatosis, is the most common acquired autoimmune blistering disorder of childhood and is characterized by itchy, urticated papules and plaques as well as polycyclic lesions (merged circles) with blisters at the edge, located on normal looking skin around the mouth and perineum in young children. In children over 7 years, other parts of the body may rather be affected.

Q: What tissue is targeted in chronic bullous dermatosis of childhood?

A: In chronic bullous dermatosis of childhood, there is an autoimmune attack on structural proteins, usually proteolytic fragments of collagen XVII, which renders the dermal-epidermal junction prone to blistering.

The dermal-epidermal junction is where the surface skin layer, or epidermis, meets the lower layer, or dermis. Diagnosis is confirmed by characteristic histology and direct immunofluorescence showing linear IgA (immunoglobulin A antibody) staining of the basement membrane zone.¹

The incidence of chronic bullous disease of childhood is rare. Age of onset is typically before 5 years of age and is seen in all ethnic groups.

What Is Chronic Bullous Dermatosis Of Childhood In Celiac Disease and/or Gluten Sensitivity?

Sources:

1. Mintz EM, Morel KD.Clinical features, diagnosis, and pathogenesis of chronic bullous disease of childhood. Dermatol Clin. 2011 Jul;29(3):459-62, ix. doi: 10.1016/j.det.2011.03.022. [↩]

What Is Dermatitis Herpetiformis In Childhood?

D ermatitis herpetiformis in childhood is an inflammatory skin manifestation of celiac disease in which immunoglobulin A (IgA) autoantibodies target components of the skin, leading to blister formation caused by ingestion of gluten in the diet.  

Dermatitis herpetiformis is characterized by multiple intensely itchy, red blisters appearing on the elbows which can extend down the forearm to the wrist and the back of the knees. Less usual areas involve the back, buttocks, scalp, and abdomen. 

Q: Do the blisters leave a mark when healed?

A: Crops of skin eruptions begin with itching or a burning sensation in reddened papules. There are grouped vesicles and tense blisters. The blister contents may be serous or bloody, with symmetrical distribution (eg, both knees or both elbows). Fluid filled elements rupture leaving denuded areas of sore skin and crust. Subsequently, there is residual hypopigmentation (a white area) or hyperpigmentation (dark area).¹

Most conditions in the spectrum of autoimmune blistering disorders are uncommonly seen in the pediatric population, even the most common ones, such as dermatitis herpetiformis.² The true incidence  is unknown. 

What Is Dermatitis Herpetiformis In Childhood In Celiac Disease and/or Gluten Sensitivity?

Sources:

1. Mendes FB, Hissa-Elian A, de Abreu MA, Gonçalves VS. Review: dermatitis herpetiformis. An Bras Dermatol. 2013 Jul-Aug;88(4):594-9. [↩]
2. Lara-Corrales I1, Pope E. Autoimmune blistering diseases in children. Semin Cutan Med Surg. 2010 Jun;29(2):85-91. doi: 10.1016/j.sder.2010.03.005. [↩]

What Is Fecal Occult Blood In Children?

T he presence of fecal occult blood in children is caused by minimal bleeding of less than a tablespoon a day in the gastrointestinal tract which leads to iron deficiency.

Bleeding is abnormal and needs to be corrected by locating the source.

Q: What does occult blood mean?

A: Occult means the small amount of blood in the stool cannot be seen by the eye when inspecting it. Therefore, suspect bleeding is found through a simple test performed on stool because stool would carry the blood away from the site of bleeding.

A fecal occult blood test is inexpensive and can be done at home or in the doctor’s office.  Most types involve smearing a stool sample onto a test card that either contains a chemical that turn blue if blood is present or else requires applying the chemical to the sample.

What Is Fecal Occult Blood In Children in Celiac Disease?

What Is Penicillin V Impaired Absorption In Children?

P enicillin V impaired absorption in children is characterized by lack of ability to absorb the oral antibiotic medicine, penicillin V,  from the small intestine.

Q: What is penicillin V?

A: Penicillin V is an antibiotic used to treat certain infections caused by bacteria such as pneumonia, scarlet fever, and ear, skin, and throat infections. It also is used to prevent recurrent rheumatic fever and chorea.

Antibiotics will not work for colds, flu, or other viral infections.¹

Penicillin V may cause these side effects: upset stomach, diarrhea, vomiting, and mild skin rash.

What Is Penicillin V Impaired Absorption In Children In Celiac Disease and/or Gluten Sensitivity?

Sources:

1. http://www.nlm.nih.gov/medlineplus/druginfo/meds/a685015.html [↩]

What Is Delayed Puberty in Boys?

D elayed puberty in boys is characterized by lack of growth and functional activity of the male gonads, called testes or testicals, to produce testosterone by age 14 and failure to grow pubic hair by age 15. Later changes affected are deepening of voice and increase in musculature.

Puberty is the life period when a boy grows into a man and begins with an increase in testicular volume.¹

Q: What is an increase in testicular volume?

A: Testes are male reproductive glands that produce reproductive cells called spermatozoa. Spermatozoa first become detectable in specimens of boys’ spontaneously produced morning urine at a mean age of 13.4 years (spermarche). As the testes become larger in the ensuing years, the maturation of spermatogenesis is completed.²

Delayed puberty may be due to excessive exercising, malnutrition, chronic disease, obesity, genetic disorders, chromosomal abnormalities, or tumors that damage the pituitary gland. The pituitary normally secretes gonadotropin stimulating hormone (GSH) telling the gonads to produce testosterone and inhibitin, or the hypothalamus, which tells the pituitary gland to release GSH.

Who is Affected in the General Population?

Delayed puberty occurs in approximately 3% of children.¹

What Is Delayed Puberty In Boys In Celiac Disease and/or Gluten Sensitivity?

Sources:

1. Brämswig J, Dübbers A. Disorders of pubertal development. Dtsch Arztebl Int. 2009 Apr;106(17):295-303; quiz 304. doi: 10.3238/arztebl.2009.0295. [↩] [↩]
2. Brämswig J, Dübbers A. Disorders of pubertal development. Dtsch Arztebl Int. 2009 Apr;106(17):295-303; quiz 304. doi: 10.3238/arztebl.2009.0295. [↩]

What Is Juvenile Autoimmune Thyroid Disease?

Juvenile autoimmune thyroid disease is an autoimmune disorder occurring in childhood that targets and damages the thyroid gland, often causing goiter. It is characterized by abnormal circulating thyroid hormone levels in the bloodstream.

Recent evidence suggests that thyroid autoimmunity originates from an interaction of genetic, endogenous and environmental factors which end up activating thyroid-specific autoreactive T-lymphocyte cells in susceptible children.¹

Q: What is the thyroid gland?

A: The thyroid is an endocrine (hormone secreting) gland that produces thyroid hormones in response to the action of thyroid stimulating hormone (TSH) produced by the pituitary gland, and releases them into the bloodstream to be quickly carried to their site of action.

The three thyroid hormones are thyroxine, called T4, triiodothyronine, called T3, and calcitonin. T4 and T3 hormones control the rate of metabolism, meaning 1) the rate of food usage for energy production, 2) the rate of protein production and breakdown in most tissues, 3) the heart rate and force of heart muscle contraction, 4) body temperature, and 5) the rate of growth and development in children.

Dietary iodine and selenium are required for T3 production. Specifically, selenium is part of the enzyme that converts T4 to the active form, T3. Calcitonin hormone is needed to build and maintain dense bones and regulate calcium blood level. The thyroid gland is located in the front of the neck at the top of the trachea (windpipe).

Who Is Affected in the General Population? Autoimmune thyroid disease is the most common etiology of acquired thyroid dysfunction in pediatrics. It is more common in females and usually occurs in early to mid-puberty. Presentation is rare under the age of 3 years, but cases have been described even in infancy.² 

What Is Juvenile Autoimmune Thyroid Disease In Celiac Disease and/or Gluten Sensitivity?

Sources:

1. Gopalakrishnan S, Marwaha RK. Juvenile autoimmune thyroiditis. J Pediatr Endocrinol Metab. 2007 Sep;20(9):961-70. [↩]
2. Cappa M, Bizzarri C, and Crea F. Autoimmune Thyroid Diseases in Children. Journal of Thyroid Research. Volume 2011 (2011), Article ID 675703, 13 pages. http://dx.doi.org/10.4061/2011/675703 [↩]

Cancer that starts in the colon (also called the large intestine) or the rectum (the end of the large intestine). Several digestive diseases may increase a person