Question

What is the pathophysiology of osteogenesis imperfecta (OI)?

What is the pathophysiology of pituitary dwarfism?

What is the pathophysiology of hemolytic uremic syndrome (HUS)?  

What is thought to be the pathophysiology of idiopathic scoliosis?

What is the reason people with cystic fibrosis (CF) are often malnourished?

What is cystic fibrosis and discuss the pathophysiology.

What is the underlying pathophysiology of asthma?

How does Kawasaki Disease cause coronary aneurysms?

What is Kawasaki Disease and what is the pathophysiology?

What is thought to be the underlying pathophysiology of Sudden Infant Death Syndrome (SIDS)?

How does lead poisoning account for the child’s symptoms?

Discuss the hemodynamic consequences of a patent ductus arteriosus (PDA).

Describe the pathophysiology of hydrocephalus in infants with myelomeningocele.

What is the underlying pathophysiology of myelomeningocele?

Briefly describe the pathophysiology of Hemophilia.

Explain the genetics of hemophilia.

Discuss the genetic basis for sickle cell disease (SCD).

What is the pathophysiology of acute sickle cell disease (SCD) crisis and why is pain the predominate feature of acute crises?  

How does renal failure occur in some patients with acute lymphoblastic leukemia (ALL)?

What is acute lymphoblastic leukemia (ALL)?  

Answer 1

1. What is the pathophysiology of osteogenesis imperfecta (OI)?

Osteogenesis imperfecta (OI) is a rare, heritable systemic sickness of bone and connective tissue, which in almost 90% of instances is due to mutations affecting the normal synthesis of type I collagen. In 1979, 4 OI phenotypes had been labeled which had been inherited as autosomal dominant characteristics. Individuals with OI existing both genetic and phenotypic variabilities. Major traits of OI are bone fragility, blue sclerae, dentinogenesis imperfecta, quick stature, scoliosis, and joint hyperextensibility. Both autosomal dominant and recessive inheritance are now recognized. Advances in molecular prognosis have led to a essential expansion in our appreciation of the genetic basis for extraordinary OI phenotypes. To date, sequence variations in 17 genes are described as causative of OI. These genes adjust the synthesis of type I collagen pro-alpha polypeptide chains, proteins worried in type I collagen processing in the endoplasmic reticulum and proteins involved in osteoblast function. These new genetic associations have additionally led to uncertainty with regard to the modern classification of OI phenotypes. Bisphosphonates have been widely used to enhance bone mass and reduce fractures in each young people and adults with OI. While superb in many however not all children when administered for 2–4 years, bisphosphonates have no longer proven tremendous in adults with OI. Studies are confined for cure of adults with teriparatide and denosumab. Advances have been reported in the surgical management of OI. Although the role of bodily remedy in the administration of childrens and adults was once in the past described, this important treatment modality is considerably underutilized.

2. What is the pathophysiology of pituitary dwarfism?

3. What is the pathophysiology of hemolytic uremic syndrome (HUS)?  

HUS is a thrombotic microangiopathy, a circumstance characterised by using the formation of microthrombi occluding the microvasculature. The other main thrombotic microangiopathy is thrombotic thrombocytopenic purpura (TTP). The two conditions have some pathophysiology and medical findings in common, but one of a kind etiologies. HUS is caused by bacterial toxins.

• Infection with enterohemorrhagic E. coli (EHEC) or any other causative organism
• Mucosal inflammation facilitates bacterial toxins entering systemic circulation.
• Toxins cause endothelial cell damage (especially in the glomerulus ).
• Endothelial cell dysfunction: Damaged endothelial cells secrete cytokines that promote vasoconstriction and platelet microthrombus formation at the web site of injury (intravascular coagulopathy)
• The glomerular filtration rate (GFR) decreases and RBCs are automatically destroyed as they bypass through the platelet microthrombi occluding small blood vessels (i.e., arterioles, capillaries) → hemolysis and end-organ ischemia and damage, specifically in the kidneys

4.What is thought to be the pathophysiology of idiopathic scoliosis

5. What is the reason people with cystic fibrosis (CF) are often malnourished?

What is cystic fibrosis and discuss the pathophysiology.

Malnutrition is one of the most frequent issues caused by cystic fibrosis (CF). Gastrointestinal problems like malnutrition tend to occur people with CF because the thick mucus generated by CF clogs the ducts (tubes) main in and out of the pancreas, liver, and intestines. These blockages mean the pancreas cannot push sufficient enzymes into the intestines for food to be digested properly.

In fact, malnutrition and failure to thrive are so frequent in people with CF that it is one of the first symptoms reported in 28.1% of newly identified patients.1 The desirable news is that malnutrition amongst human beings with CF is decreasing as physicians have realized to vicinity greater emphasis on nutrition than in previous decades.

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and different organs in the body.

Cystic fibrosis impacts the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene causes the secretions to end up sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, specially in the lungs and pancreas.

6. What is the underlying pathophysiology of asthma?

7. How does Kawasaki Disease cause coronary aneurysms?

Kawasaki disease affects children. It is also defined as Kawasaki syndrome or mucocutaneous lymph node syndrome. Kawasaki disease leads to swelling (inflammation) of the body’s tissues and if left untreated, can lead to inflammation of the heart and the coronary arteries. This inflammation can lead to long-term coronary heart issues such as blood clots, aneurysms, or a heart attack.

Kawasaki disease most frequently affects the coronary arteries, commonly via weakening their walls. If an artery’s wall is weakened, the pressure of blood passing through it forces the artery to bulge outward, forming what you would possibly assume of as a thin-skinned blister. This is known as an aneurysm. If a blood clot types in the aneurysm, it can block the artery, leading to a heart attack. In uncommon cases, the aneurysm may additionally burst.

Kawasaki ailment can also additionally purpose inflammation of the heart muscle (called myocarditis) or the sac surrounding the heart (called pericarditis). It can also lead to bizarre coronary heart rhythms (arrhythmias).

For most children, the coronary heart troubles go away after 5 or 6 weeks, and there is no lasting damage. In some children, the coronary arteries are broken forever.

8. What is Kawasaki Disease and what is the pathophysiology?