Posts tagged pediatric

Le Petit Prince is a heartwarming series by Slovenian photographer Matej Peljhan that features a sweet 12-year-old boy named Luka engaging in activities he would otherwise be incapable of taking part in due to his ongoing battle with muscular dystrophy—a degenerative disease that progressively weakens the musculoskeletal system over time. Despite the young boy’s limitations in movement, which are restricted to minor finger movements to operate his electric wheelchair and slowly draw with a pen, Luka can be seen scuba diving, breakdancing, and skateboarding in Peljhan’s uplifting photos.

One of the most beautiful way art and medicine come together.

Pediatric Circumcision and Herpes? Two more infants have contracted the herpes virus after undergoing an ultra-Orthodox Jewish type of circumcision, which has been linked to the spread of the potentially deadly virus to newborn boys, according to the New York City Health Department.  In the ritual, known as metzitzah b’peh, after removing the foreskin of the penis the person performing the procedure places his mouth briefly over the wound, sucking a small amount of blood out, which is discarded. Antibacterial ointment is applied and the wound is bandaged. The health department says the procedure is dangerous because the contact with the mouth could transmit diseases such as herpes. What a strange battle between medicine and religion. 

Pediatric Circumcision and Herpes?

Two more infants have contracted the herpes virus after undergoing an ultra-Orthodox Jewish type of circumcision, which has been linked to the spread of the potentially deadly virus to newborn boys, according to the New York City Health Department. 

In the ritual, known as metzitzah b’peh, after removing the foreskin of the penis the person performing the procedure places his mouth briefly over the wound, sucking a small amount of blood out, which is discarded. Antibacterial ointment is applied and the wound is bandaged. The health department says the procedure is dangerous because the contact with the mouth could transmit diseases such as herpes.

What a strange battle between medicine and religion. 

These Heroes.

Jordan Year

Just to show that I’m human. It’s my birthday today!

Gonna stay in and write a nice grant proposal. Excited.

Goldenhar Syndrome Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, andmandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilet it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases). Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss(see hearing loss with craniofacial syndromes).Deafness/blindness in one or both ears/eyes.

Goldenhar Syndrome

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, andmandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilet it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss(see hearing loss with craniofacial syndromes).Deafness/blindness in one or both ears/eyes.

Moquio Syndrome The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935), a well-known Uruguayan physician who discovered it in Montevideo, Morquio and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England. They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French. The chances of getting Morquiou is 1 in 200,000.

Moquio Syndrome

The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935), a well-known Uruguayan physician who discovered it in Montevideo, Morquio and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England.

They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French. The chances of getting Morquiou is 1 in 200,000.

Ondine’s Curse (Congenital Central Hypoventilation Syndrome) Ondine’s curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar hypoventilation, is a respiratory disorder that is fatal if untreated. Persons afflicted with Ondine’s curse classically suffer from respiratory arrest during sleep. CCHS is congenital or developed due to severe neurological trauma to the brainstem. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. (Chin, 2006). There are also cases when the diagnosis is made in later life and middle age, although the symptoms are usually obvious in retrospect. Again, lack of awareness in the medical community may cause such a delay. This is a very rare and serious form of central nervous system failure, involving an inborn failure of autonomic control of breathing. About 1 in 200,000 live born children have the condition. In 2006, there were only about 200 known cases worldwide. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake. CCHS susceptibility is not known to be affected by gender.

Ondine’s Curse (Congenital Central Hypoventilation Syndrome)

Ondine’s curse, also called congenital central hypoventilation syndrome (CCHS) or primary alveolar hypoventilation, is a respiratory disorder that is fatal if untreated. Persons afflicted with Ondine’s curse classically suffer from respiratory arrest during sleep.

CCHS is congenital or developed due to severe neurological trauma to the brainstem. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. (Chin, 2006). There are also cases when the diagnosis is made in later life and middle age, although the symptoms are usually obvious in retrospect. Again, lack of awareness in the medical community may cause such a delay.

This is a very rare and serious form of central nervous system failure, involving an inborn failure of autonomic control of breathing. About 1 in 200,000 live born children have the condition. In 2006, there were only about 200 known cases worldwide. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.

CCHS susceptibility is not known to be affected by gender.

Hypoplastic Left Heart Syndrome In babies with HLHS, the aorta and left ventricle are underdeveloped before birth, and the aortic and mitral valves are either too small to allow sufficient blood flow or are atretic (closed) altogether. As blood returns from the lungs to the left atrium, it must pass through an atrial septal defect to the right side of the heart. In a healthy human, the left side of the heart receives oxygen-rich blood from the lungs and pumps it out to the rest of the body; with these structures underdeveloped, they cannot circulate blood to other organs, and the right ventricle must pump blood to both the lungs, as it would normally, and to the rest of the body, a situation which cannot be sustained for long. In cases of HLHS, the right side of the heart often must pump blood to the body through a patent ductus arteriosus. As the ductus arteriosus usually closes within eleven days after birth, blood flow is severely restricted and eventually cut off, leading to dangerously low circulation and eventually to shock.

Hypoplastic Left Heart Syndrome

In babies with HLHS, the aorta and left ventricle are underdeveloped before birth, and the aortic and mitral valves are either too small to allow sufficient blood flow or are atretic (closed) altogether. As blood returns from the lungs to the left atrium, it must pass through an atrial septal defect to the right side of the heart.

In a healthy human, the left side of the heart receives oxygen-rich blood from the lungs and pumps it out to the rest of the body; with these structures underdeveloped, they cannot circulate blood to other organs, and the right ventricle must pump blood to both the lungs, as it would normally, and to the rest of the body, a situation which cannot be sustained for long.

In cases of HLHS, the right side of the heart often must pump blood to the body through a patent ductus arteriosus. As the ductus arteriosus usually closes within eleven days after birth, blood flow is severely restricted and eventually cut off, leading to dangerously low circulation and eventually to shock.

Spastic Quadriplegia (Cerebral Palsy) Spastic quadriplegia, sometimes called spastic tetraplegia, is the version of spastic diplegia that affects all four limbs (arms and legs) rather than just the legs. It is defined by spasticity, rather than the paralysisthat defines quadriplegia. As with all forms of spasticity, spastic quadriplegia, while affecting all four limbs more or less equally, can still contain within an individual specific case, parts of the body that are more spastic than others, such as one arm being tighter than another arm, and so forth. Spastic triplegia, meanwhile, involves three limbs (such as one arm and two legs, or one leg and two arms, etc.); spastic hemiplegia affects one or another entire side of the body (left or right); and spastic monoplegia involves a single limb.

Spastic Quadriplegia (Cerebral Palsy)

Spastic quadriplegia, sometimes called spastic tetraplegia, is the version of spastic diplegia that affects all four limbs (arms and legs) rather than just the legs. It is defined by spasticity, rather than the paralysisthat defines quadriplegia. As with all forms of spasticity, spastic quadriplegia, while affecting all four limbs more or less equally, can still contain within an individual specific case, parts of the body that are more spastic than others, such as one arm being tighter than another arm, and so forth. Spastic triplegia, meanwhile, involves three limbs (such as one arm and two legs, or one leg and two arms, etc.); spastic hemiplegia affects one or another entire side of the body (left or right); and spastic monoplegia involves a single limb.

Arthrogryoposis Arthrogryposis, also known as arthrogryposis multiplex congenita (AMC), is a rare congenital disorder that is characterized by multiple joint contractures and can includemuscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning ‘curved or hooked joints. There are many known subgroups of AMC, with differing signs, symptoms, causes etc. In some cases, few joints may be affected and may have a nearly full range of motion. In the most common type of arthrogryposis, called amyoplasia, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back. Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation seen.

Arthrogryoposis

Arthrogryposis, also known as arthrogryposis multiplex congenita (AMC), is a rare congenital disorder that is characterized by multiple joint contractures and can includemuscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning ‘curved or hooked joints.

There are many known subgroups of AMC, with differing signs, symptoms, causes etc. In some cases, few joints may be affected and may have a nearly full range of motion. In the most common type of arthrogryposis, called amyoplasia, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.

Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation seen.