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What is the Urea Cycle?

In humans and mammals, almost 80% of the nitrogen excreted is in the form of urea, which is produced through a series of reactions occurring in the cytosol and mitochondrial matrix of liver cells. These reactions are collectively called the urea cycle or the Krebs-Henseleit cycle.

19 Jul 2016

Urea Cycle Disorder Treatments

The treatment of disorders related to the urea cycle is a lifelong process aimed at managing symptoms and doesn't cure the disorder. Strategies include monitoring ammonia levels using blood tests - serum and plasma levels – at regular intervals and using the results to optimize treatment methods.

19 Jul 2016

What are Urea Cycle Disorders?

Urea cycle disorders are congenital diseases that are caused by a dysfunctional urea cycle. The genetics and biochemistry of these disorders have been extensively studied. They are the result of a deficiency of one of the six enzymes that catalyze the various biochemical reactions in the urea cycle which converts ammonia to urea for removal via urine.

19 Jul 2016

Urea Cycle Disorder Research

Urea cycle disorders (UCD) are a group of rare disorders that are categorized as inborn errors of metabolism. These disorders have serious implications, often resulting in irreversible neurological damage or death. Over the years, there has been a tremendous increase in UCD research.

19 Jul 2016

Symptoms of Urea Cycle Disorders

The specific symptoms of disorders related to the urea cycle vary among the different types of these disorders. Typically, with complete deficiency of urea cycle enzymes, symptoms present within the first 24 hours after birth and hence urea cycle disorders are mostly diagnosed during infancy. However, some children start showing symptoms only during early childhood.

19 Jul 2016

What is Amebiasis?

Amebiasis is a term for disease caused by the protozoan parasite Entamoeba histolytica that primarily infects the human bowel, but can also affect other organs (most commonly the liver). Entamoeba histolytica can exist in two forms – as a short-lived motile trophozoite with the ability to invade different organ systems, and as a long-surviving cyst that is able to colonize a patient.

19 Jul 2016

What is the Half-Life of a Drug?

The elimination half-life of a drug is the time it takes for the concentration of the drug in the plasma or the total amount in the body to be reduced by 50%.

18 Jul 2016

Photoplethysmography (PPG)

Photoplethysmography (PPG) is a simple optical technique used to detect volumetric changes in blood in peripheral circulation. It is a low cost and non-invasive method that makes measurements at the surface of the skin.

18 Jul 2016

Thyroiditis - Inflammation of the Thyroid Gland

Thyroiditis is a medical term to indicate inflammation of the thyroid gland, which can manifest as either hyperthyroidism or hypothyroidism.

18 Jul 2016

Diagnosing Calcification

In addition to routine blood and biochemical tests to check for underlying factors such as hypovitaminosis K, hypervitaminosis D, or hypercalcemia, X-rays (e.g. for the breasts) and CT scans (e.g. for the brain) may be used to detect calcifying deposits.

18 Jul 2016

The Hygiene Hypothesis

The hygiene hypothesis is also sometimes referred to as the biome depletion theory, or the “old friends” theory, is a hypothesis that states that the cause of allergic disease may be immune intolerance resulting from inadequate exposure to parasites and microbes in childhood.

18 Jul 2016

Kallmann Syndrome Research

Kallmann syndrome is a medical condition characterized by idiopathic hypogonadotropic hypogonadism with anosmia. The scientific research into this condition has improved our understanding of it, and helped to improve the diagnostic and treatment recommendations for clinical practice.

18 Jul 2016

Kallmann Syndrome Treatment

The treatment of Kallmann syndrome typically involves hormone replacement therapy to normalize the sex hormone levels, so as to induce and maintain sexual development. Additional treatment may be required later in life if the individual wishes to start a family. Other factors, such as bone mineral density and the reduced sense of smell, should also be considered in the treatment of the condition.

18 Jul 2016

Kallmann Syndrome Epidemiology

Kallmann syndrome is considered to be a rare condition. Precise epidemiological data is lacking due to difficulty with the diagnosis of the condition and the acquisition of accurate data about the condition.

18 Jul 2016

Kallmann Syndrome Pathophysiology

Kallmann syndrome is also known as idiopathic hypogonadotropic hypogonadism with anosmia. It is a genetic condition that is caused by mutations in certain genes. Known mutations occur in genes such as ANOS1, FGFR1, PROKR2 or PROK2. Each of these genes plays a role in the development of certain areas of the fetal brain. Mutations in one of these genes account for up to 30% of cases, while the rest are considered to be caused by an unknown gene mutation.

18 Jul 2016

Kallmann Syndrome Signs and Symptoms

Kallmann syndrome, also known as idiopathic hypogonadotropic hypogonadism with anosmia, is a congenital condition that manifests as an abnormally low production of the hormones that are involved in sexual development. The hallmark symptoms of the condition include delay in or absence of puberty and an impaired or absent sense of smell.

18 Jul 2016

Kallmann Syndrome Diagnosis

The diagnosis of Kallmann syndrome, or idiopathic hypogonadotropic hypogonadism with anosmia, is made on the basis of clinical findings that suggest reduced or incomplete sexual maturation associated with hypogonadism, with reduced or absent sense of smell.

18 Jul 2016

Kallmann Syndrome

Kallmann syndrome is a medical condition marked by the delayed onset or absence of puberty, along with an impaired or absent sense of smell, known as hyposmia or anosmia respectively. It is a type of hypogonadotropic hypogonadism, which involves the deficient production of sex hormones responsible for secondary sexual development and maturation.

18 Jul 2016

Char Syndrome

Char syndrome is a genetic disorder that is characterized by 3 key features: abnormal facial appearance, a defective heart called patent ductus arteriosus and abnormalities of the hand. It is caused by mutations in the TFAP2B gene that hinders the development of the heart, face and limbs. It is a rare genetic condition and only a handful of families have been identified with this syndrome globally.

18 Jul 2016

Is Vaginal Seeding Safe?

Vaginal seeding is a relatively new practice and involves swabbing the mother’s vagina prior to C-section (caesarean) and transferring the swab to the new-born baby’s mouth, eyes and skin right after birth, in an attempt to stimulate a microbiome rich in mother’s vaginal microbes.

18 Jul 2016