5 things we now know about atrial fibrillation
PLAIN RADIOGRAPHIC DIAGNOSIS OF CONGENITAL HEART DISEASE
PLAIN RADIOGRAPHIC DIAGNOSIS OF CONGENITAL HEART DISEASEPLAIN RADIOGRAPHIC DIAGNOSIS OF CONGENITAL HEART DISEASE
ContentsPrevious ConditionNext Condition
4b-1. Coarctation of the Aorta. (Legend.)A. Chest radiograph demonstrates rib notching (ribs 3-8 bilaterally). There is a figure-three sign in the left upper mediastinum secondary to hypoplasia of the aortic arch with poststenotic dilation of the aorta infra-coarctation.
A. PA chest radiograph demonstrates rib notching/erosion of ribs 5-8 bilaterally (secondary to intercostal collateral development). There is cardiomegaly, figure-three sign in the left upper mediastinum and post-stenotic dilation of the descending aorta.
B. Left anterior oblique view shows slight anterior displacement of the esophagus by the dilated aorta below the coarctation.
A. PA chest radiograph shows bilateral rib notching (rib 5-8) with figure-3 sign and significant post-stenotic dilation of the descending aorta.
Coarctation in the adult is characterized by a short segment abrupt obstruction in the postductal region secondary to localized thickening of the aortic media. This typically occurs just distal to the ductus or ligamentum arteriosum. Infantile coarctation or preductal coarctation is characterized by a diffuse narrowing or hypoplasia of the aorta also in the presence of a discrete area of constriction in the aorta just beyond the origin of the left subclavian artery but proximal to the ductus arteriosus, hence distal blood supply is fulfilled via the ductus. Typical coarctation are those cases in which there is diffuse hypoplasia of the transverse arch in association with a discrete isthmic narrowing.
Incidence: Coarctation accounts for between 5-8% of all congenital heart defects. The male:female ratio is between 2-3:1 with an increased predisposition in girls with Turner's syndrome (15-20%).
Associations: (1) Bicuspid aortic valve occurs in up to 85% of cases. (2) Ventricular septal defect (all types). (3) Mitral valve lesions including hypoplastic mitral valve, parachute mitral valve, and abnormal papillary muscles. (4) Shone's syndrome (multiple left sided obstructions; supravalvular mitral ring, mitral valve stenosis, subaortic membrane/stenosis, aortic valve stenosis, coarctation). (5) Cyanotic congenital lesions including truncus arteriosus and transposition of the great arteries, especially with a subpulmonic VSD and overriding pulmonary artery (Taussig-Bing).
Physical findings: In later life characteristic features are upper limb hypertension with reduced or absent femoral impulses. Hypertension may not directly reflect the severity of the obstruction. If there is a higher left upper limb blood pressure relative to right, one should consider the possibility of an abberant right subclavian artery. The upper torso may be well developed relative to the lower torso. In infants there is less tendency to severe hypertension and the development of collaterals. There may be a thrill in the suprasternal notch. An ejection systolic murmur may be heard in the left upper sternal region, with an ejection click if there is an associated bicuspid aortic valve. The back should be palpated for the presence of collaterals and ausculted for continuous murmurs. Fundoscopic exam in older patients may yield evidence of hypertensive changes.
ECG: Often normal in early stages progressing to left ventricular hypertrophy. 50% of older patients may develop RBBB.
CXR: Characteristic features include post-stenotic dilation of the descending aorta, "figure 3" sign, and the development of rib notching secondary to dilated intercostal collateral vessels. This is reported in 70% patients between 6-41 years. It is extremely rare in infancy. Unilateral notching should alert one to the presence of ipsilateral anomalous subclavian artery arising below the coarctation (low pressure system, hence no collaterals).
What You Need To Know About Sotos Syndrome
Sotos syndrome is also known as cerebral gigantism and Sotos sequence. It's a rare genetic disorder that affects children and adults. It causes excessive growth during childhood and behavioral symptoms throughout life.
Sotos syndrome is a rare genetic disorder that causes excessive growth, especially in childhood.
Children with Sotos syndrome may have several health problems related to this overgrowth that require ongoing care. Sotos syndrome often causes behavioral symptoms like autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and others.
There's no cure for this genetic disorder, but some of the symptoms can be treated. Sotos syndrome usually isn't life threatening.
Sotos syndrome, also called cerebral gigantism, is a rare genetic disorder. It's caused by changes in the NSD1 gene on chromosome 5. These changes may happen randomly or may be passed on from either parent.
Individuals with Sotos syndrome have distinctive characteristics like:
The symptoms of this syndrome are mainly related to excessive growth during the early years of a child's life.
Physical and physiological symptoms of Sotos syndrome in babies include:
In children, such symptoms include:
Mental and developmental symptoms of Sotos syndrome in children include:
Sotos syndrome is generally diagnosed in childhood. In general, adults with Sotos syndrome are usually basically healthy and in the average range for weight and height, but they may have other symptoms that are different from children with Sotos syndrome.
As people with Sotos syndrome age, they may have an increased risk of developing tumors and cancer. Adults may also continue to have coordination and motor skill problems. Intellectual disabilities present in childhood generally persist and remain stable in adulthood.
Other symptoms adults with Sotos syndrome may experience include lymphedema
Sotos syndrome is a genetic disorder caused by a mutation in the NSD1 gene. In 95% of people with Sotos syndrome, the mutation is a random mutation (de novo) and is not inherited from a child's parents.
If you have Sotos syndrome, there is a 50% chance of passing it on to your offspring, however.
Sotos syndrome occurs in 1 out of 14,000 births. The risk factors are not well understood at this time, and no specific risk factors have been identified.
Sotos syndrome can be diagnosed in babies and children. It's not a typical part of the newborn screening process in hospitals, however. Instead, doctors test for it after noticing the symptoms. It may take months or several years for the symptoms to trigger a doctor to test for the disorder.
Diagnosis of Sotos syndrome includes:
It's common for children with Sotos syndrome to receive a diagnosis of autism spectrum disorder. Your child's doctor can recommend behavioral and other types of therapy that may help.
There's no cure or one specific treatment for Sotos syndrome. Instead, treatment focuses on treating the symptoms.
Treatment options include:
Other treatments may be necessary if you develop medical problems related to Sotos syndrome. For example, you may need regular heart and kidney exams. In addition, the risk of tumors and cancer may be higher, so regular screening may be necessary.
A special diet isn't required for Sotos syndrome, but it's important that children and adults eat a well-balanced and healthy diet.
Sotos syndrome isn't a life threatening condition. It's a genetic disorder that's caused by a mutation in the NSD1 gene.
The main characteristics of this condition are overgrowth in children and intellectual disability. Most people are diagnosed with Sotos syndrome as babies or young children.
Once they stop growing, adults with Sotos syndrome can be in the average range for height, weight, and intellect. Thus, they can lead fulfilling lives.
What is the life expectancy of Sotos syndrome?Since Sotos syndrome is not life threatening, individuals with it generally live a typical lifespan.
Is Sotos syndrome a form of autism?Sotos syndrome is not a form of autism, but both conditions can have similar symptoms.
People with Sotos syndrome may also have autism. The main difference between the conditions is that autism does not affect growth, and Sotos syndrome does.
Sotos syndrome is a rare genetic disorder that affects both children and adults. It causes excessive growth in childhood and other developmental and health problems.
Sotos syndrome often causes many symptoms such as autism, ADHD, behavioral concerns, and others.
While Sotos syndrome isn't life threatening, there's no cure. There are treatment options for many of the symptoms.
Ancient Bone Could Reveal How Neanderthals Cared For A Child With Down Syndrome
Sign up for CNN's Wonder Theory science newsletter. Explore the universe with news on fascinating discoveries, scientific advancements and more.
CNN —
A fossilized ear bone unearthed in a cave in Spain has revealed a Neanderthal child who lived with Down syndrome until the age of 6, according to a new study.
The find suggested that members of the community cared for and looked after the vulnerable child, who lived at least 146,000 years ago. The research is at odds with the image of Neanderthals, ancient human relatives who went extinct around 40,000 years ago, as brutish cavemen.
"The individual would have needed continuous and intensive care," said paleoanthropologist Mercedes Conde-Valverde, the lead author of a study on the bone that appeared Wednesday in the journal Science Advances.
The child "suffered from severe loss (of) hearing and had serious balance issues and episodes of vertigo," explained Conde-Valverde, who is an assistant professor of physical anthropology at the University of Alcalá in Spain.
Muscle weakness would have also made breastfeeding and movement difficult, she added.
The tiny fossil was excavated in 1989 from the Cova Negra archaeological site in Spain's Valencia province. However, archaeologists only recently discovered the specimen when they combed through faunal fragments gathered at the site during a review of the material.
"We have been able to identify it as a Neanderthal due to the peculiar proportions of its semicircular canals, which are characteristic of Neanderthals," Conde-Valverde said, referring to the inner tubes of the ear.
The study did not include precise dating of the bone, which would require extraction of ancient DNA, but Neanderthals occupied the site 146,000 to 273,000 years ago. The research team has not determined the sex of the young Neanderthal.
People with Down syndrome can lead a long life today, but it was surprising the child lived beyond the age of 6, Conde-Valverde said.
Life in the Stone Age would have been demanding. The study noted that Neanderthals were highly mobile, regularly moving from place to place. The care required for the child to survive for an extended period of time likely involved the mother's reliance on the cooperation and support of other members of the group.
Even in the recent the past, it was common for people with Down syndrome to die in childhood. According to the study, life expectancy in 1929 for children with Down syndrome, a condition caused by an extra partial or full chromosome, was 9 years. By the 1940s, the expected lifespan had increased to 12 years.
Today, about 1 in 772 babies in the United States are born with Down syndrome, and life expectancy now exceeds 60 years, according to the National Down Syndrome Society in the United States.
The oldest known case of Down syndrome in Homo sapiens, our own species, dates back at least 5,300 years. Using ancient DNA, the authors of a study published in February identified six cases in prehistoric populations. None of the children lived longer than 16 months.
Down syndrome has also been documented in chimpanzees. A January 2016 study highlighted the case of a chimp with Down syndrome that survived to 23 months thanks to the care received by the mother, with assistance from the eldest daughter.
However, when the daughter stopped helping to look after her own offspring, the mother was unable to provide the necessary care, and the offspring died, the study said.
Conde-Valverde and her colleagues believe the bone belonged to a child with Down syndrome because of a series of abnormalities in the inner ear structure.
These include an abnormal shape of the lateral semicircular canal (the shortest ear canal); an enlarged vestibular aqueduct, a narrow, bony canal that goes from the inner ear to deep inside the skull, and a reduction of the overall size of the cochlea bone chamber.
"Some of these pathologies commonly appear in various syndromes, but the combination present in the Cova Negra fossil has only been described in contemporary people with Down syndrome," she said.
Definitive proof that the child had Down syndrome would require the recovery of ancient DNA from the fossil, but that hadn't yet been possible, she said.
Past studies of archaeological finds have suggested that Neanderthals cared for vulnerable members of their group.
One Neanderthal man buried in Shanidar Cave in what's now Iraq was deaf and had a paralyzed arm and head trauma that probably rendered him partially blind, yet he lived a long time, according to October 2017 research.
A Neanderthal skeleton known as the "Old Man of La Chapelle" uncovered in current-day central France had degenerative arthritis and may have been fed by other members of his group, a February 2019 study found.
Conde-Valverde said that the discovery of the Cova Negra fossil supported the existence of true altruism among Neanderthals.
"For decades, it has been known that Neanderthals cared for and looked after their vulnerable companions," Conde-Valverde said.
"However, all known cases of care involved adult individuals, leading some scientists to believe that this behavior was not genuine altruism but merely an exchange of assistance between equals," she said.
"What was not known until now was a case of an individual who had received extra-maternal care from birth, even though it could not reciprocate."
Most parents today don't view childcare as an "expectation of reciprocity," and it was unlikely to be the case among Neanderthals, said Penny Spikins, a professor of archaeology at the University of York in the United Kingdom and author of "Hidden Depths: The Origins of Human Connection."
Humans likely evolved an instinctive and emotional response to care for infants to ensure they survived, said Spikins, who wasn't involved in the research.
"This find brings home how like us Neanderthals were in so many ways, particularly in our common human desire to care for the vulnerable," she said.
"We can imagine that this child was loved and looked after like any other."
Comments
Post a Comment