Skip to main content

Posts

Smith-Magenis Syndrome

Smith-Magenis Syndrome Overview Smith-Magenis syndrome is a developmental condition that affects several parts of your child’s body. Some of the main symptoms include abnormal cognitive development (intellectual disability), unique facial features, behavioral concerns and difficulty sleeping. Smith-Magenis syndrome occurs because a small piece of a chromosome, carrying an important gene, is deleted from your child’s DNA during embryonic development. Smith-Magenis syndrome can affect anyone, as the genetic change occurs at the time of conception when the egg and sperm meet. There’s usually no history of the condition in your biological family line. This is known as a spontaneous or “de novo” mutation. In rare cases, your child may inherit the condition from a biological parent who doesn’t have symptoms of the condition but has a genetic change in some of their sex cells but not all of their cells. This type of inheritance is called germline mosaicism. Symptoms Symptoms of Smith-Magenis ...
Post a Comment
Read more
Recent posts

Empty Nest Syndrome

Empty Nest Syndrome Overview Empty nest syndrome is the complicated tangle of feelings parents experience when their children move out of the family home and begin their adult lives. It’s not a diagnosable mental health issue, but that doesn’t mean it isn’t real. All that emotional upheaval and anticipatory grief can have a big impact, from prompting a broader existential crisis to causing physical symptoms or catastrophic thinking. “Empty nest syndrome is a very common experience,” Dr. Borland reassures. “A large part of one’s identity often becomes defined by their role as a parent. And suddenly, there’s this recognition that a significant change is about to occur, that time has flown really quickly. It’s OK to feel a sense of loss and uncertainty during this period of transition.” Symptoms Again, empty nest syndrome isn’t a diagnosable psychiatric condition, but Dr. Borland says people experiencing it tend to experience some or all of the following feelings: Fear. Grief. Sadness. Gu...
Post a Comment
Read more

Hyponatremia

Hyponatremia Overview Hyponatremia is a condition that happens when the level of sodium in the blood is lower than the typical range. Sodium is an electrolyte, and it helps regulate the amount of water that's in and around your cells. In hyponatremia, one or more factors cause the sodium in the body to be diluted. These factors can range from an underlying medical condition to drinking too much water. When this happens, the body's water levels rise, and cells begin to swell. This swelling can cause many health problems, from mild to life-threatening. Hyponatremia treatment is aimed at resolving the underlying condition. Depending on the cause of hyponatremia, you may simply need to cut back on how much you drink. In other cases of hyponatremia, you may need intravenous electrolyte solutions and medications. What are the types of hyponatremia? Types of hyponatremia include: Euvolemic hyponatremia/dilutional hyponatremia. This is when the amount of sodium in your body stays the ...
Post a Comment
Read more

Crimean-Congo haemorrhagic fever

Crimean-Congo haemorrhagic fever Overview Crimean-Congo haemorrhagic fever (CCHF) is a widespread disease caused by a tick-borne virus (Nairovirus) of the Bunyaviridae family. The CCHF virus causes severe viral haemorrhagic fever outbreaks, with a case fatality rate of 10–40%. CCHF is endemic in Africa, the Balkans, the Middle East and Asian countries south of the 50th parallel north – the geographical limit of the principal tick vector. The Crimean-Congo haemorrhagic fever virus in animals and ticks The hosts of the CCHF virus include a wide range of wild and domestic animals such as cattle, sheep and goats. Many birds are resistant to infection, but ostriches are susceptible and may show a high prevalence of infection in endemic areas, where they have been at the origin of human cases. For example, a former outbreak occurred at an ostrich abattoir in South Africa. There is no apparent disease in these animals. Animals become infected by the bite of infected ticks and the virus remain...
Post a Comment
Read more

Internet gaming disorder

Internet gaming disorder Overview Video game addiction, also called internet gaming disorder, is a condition characterized by severely reduced control over gaming habits, resulting in negative consequences in many aspects of your life, including self-care, relationships, school and work. This condition can include gaming on the internet or any electronic device, but most people who develop significant gaming issues mainly play on the internet. Whether internet and video gaming addiction should be classified as an addiction or mental illness is debated among researchers. Many researchers consider video game addiction a behavioral addiction similar to gambling disorder, in which the rush of winning becomes one of the main reasons for playing. Others think this comparison to gambling is flawed because there may not be financial or material losses involved with playing video games. In addition, winning a video game may require cognitive skills and sharp reflexes, while winning at gambling ...
Post a Comment
Read more

Simpson-Golabi-Behmel Syndrome

  Simpson-Golabi-Behmel Syndrome Overview Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition that mostly affects males. In SGBS type 1, one of the main features is overgrowth, which is when an individual is larger than expected. This can be seen in overgrowth before birth, where the unborn baby is unusually large, and in overgrowth after birth, where a baby is unusually large. Other physical features that are commonly seen in individuals with SGBS are specific facial features like large forehead, nose, lips, and tongue. Some people with SGBS have an opening in the roof of their mouth (cleft palate). They can also have an opening in the upper lip (cleft lip). People with SGBS can have differences in other parts of their bodies too. Some of the differences that are more commonly seen include having an extra nipple, problems with their bones, and a bulge near the belly button called an umbilical hernia. Having SGBS can also mean that a person has a higher chance of havi...
Post a Comment
Read more

Shwachman-Diamond syndrome (SDS)

Shwachman-Diamond syndrome (SDS) Overview This condition is a rare inherited disorder that happens when genes mutate and primarily affect children’s pancreases, bone marrow and bones. Most of the time, those with the syndrome are diagnosed before they’re a year old, but it may be diagnosed even in young adults. Shwachman-Diamond is a challenging disease to diagnose and treat. It causes several different symptoms and children may have one, several or all of the different symptoms. For example, one child may have pancreas and skeletal issues while another may have bone marrow issues and skeletal. It’s also an unpredictable illness. Children’s symptoms may be mild or severe and may change over time. Most children need a team of medical specialists because Shwachman-Diamond syndrome causes many medical problems. Children with this condition will need life-long medical care, but typically have normal lifespans. However, some children and young adults may develop life-threatening blood cance...
Post a Comment
Read more