Skeletal Diseases

Cardio Vacsular Diseases:

Muscle Related Disease

Anatomy and Physiology

CN 111/L (4799)

Collegee of Health Science Education

Submitted to:

Kristine Ann C. Salanap

Instructor

Submitted by:

Sharanel Tajas Borromeo

Bs Nursing 1st Year

September 12, 2022

 Skeletal Diseases:

Hypophosphatasia
Anatomy and Physiology

CN 111/L (4799)

Collegee of Health Science Education

Submitted to:

Kristine Ann C. Salanap

Instructor

Submitted by:

Sharanel Tajas Borromeo

Bs Nursing 1st Year

September 12, 2022

 SKELETAL DISEASES

HYPOPHOPHATASIA:

PATHOGENICITY:
 The ALPL gene, which codes for the enzyme tissue nonspecific alkaline
phosphatase, is altered (mutated) to induce HPP (TNSALP). Such
mutations result in decreased activity of this enzyme, which should be
dissolving an inhibitor of mineralization known as inorganic
pyrophosphate. 

HISTORY:
 The hereditary condition hypophosphatasia (HPP), which affects the
growth of teeth and bones, has a long history. The mineralization of the
teeth and bones is hampered. The bones become brittle and more prone
to breaking as a result. Additionally, it may result in additional dental
issues, such as early tooth loss. Different people experience
hypophosphatasia in different ways. The illness can strike at any age, from
pregnancy through adulthood. Once symptoms are recognized and the
patient's medical history is examined, hypophosphatasia is typically
diagnosed. There are probably many complications. Clinical examinations,
imaging, and several laboratory testing are also used to diagnose it.
Alkaline phosphatase (ALP), an enzyme that is deficient in people with
HPP, cannot be detected by testing on its own. When taking no additional
B-vitamins, including a multivitamin, people who regularly have a total
alkaline phosphatase test at or below 40 may have HPP and should have
their vitamin B6 level checked. A patient is essentially diagnosed with HPP
when their total alkaline phosphatase level is low and their vitamin B6 level
is high. This is significant because individuals with HPP are deficient in the
gene for bone-specific alkaline phosphatase, which is generated by
osteoblasts during the formation of new bone and is necessary for the
breakdown of inorganic pyrophosphate (which among other actions inhibits
bone mineralization). No patient with HPP should ever be treated with a
bisphosphonate because these extremely efficient osteoporosis
medications are analogues of inorganic pyrophosphate. 
HEREDITARY/VIRAL/ BACTERIA:
 An hereditary condition called hypophosphatasia affects how bones and
teeth form. This disorder interferes with the mineralization process, which
deposits calcium and phosphorus in developing bones and teeth. 

POSSIBLE CURE:
 Management of symptoms including hypercalcemia and persistent
discomfort is the main goal of treatment. HPP patients with bone issues
can be treated with asfotase alfa (Strensiq), a human recombinant enzyme
replacement treatment. Bisphosphonates, which are frequently used to
treat osteoporosis, shouldn't be administered to people with HPP. Although
patients with HPP can utilize anabolic medications designed to treat
osteoporosis, such as Tymlos (abaloparatide) and Forteo (teriparatide). 
 Skeletal Diseases:

X-Linked Hypophosphatemia
Anatomy and Physiology

CN 111/L (4799)

Collegee of Health Science Education

Submitted to:

Kristine Ann C. Salanap

Instructor

Submitted by:

Sharanel Tajas Borromeo

Bs Nursing 1st Year

September 12, 2022

 X- LINKED HYPOPHOSPHATEMIA

PATHOGENICITY:
 Hypophosphatemia (low serum phosphate concentration), a reduced re-
absorption of phosphate from the kidneys as determined by precise
calculations, high alkaline phosphatase, and/or the discovery of a PHEX
genetic alteration all contribute to the diagnosis of XLH. 

HISTORY:
 Low blood phosphorus levels are a hallmark of the genetic condition X-
linked hypophosphatemia (XLH). When a person has XLH, their kidneys
are unable to adequately handle phosphorus and vitamin D. The bones
and teeth are impacted by these symptoms and illnesses. A diagnosis can
be made after reviewing the symptoms, and genetic testing is used to
confirm the diagnosis. Sometimes signs show up before a toddler starts to
walk. Most cases only show a few symptoms, though, and many people
are not examined. XLH frequently stays untreated and occasionally is
incorrectly identified as a vitamin D deficiency. 

HEREDITARY/VIRAL/ BACTERIA:
 X-linked hypophosphatemia is inherited in an X-linked manner and is either
hereditary, viral, or bacterial. An affected female passes the pathogenic
mutation to 50% of her kids, while an affected man passes the pathogenic
variant to all of his daughters and none of his boys. Children that inherit the
pathogenic variant will be impacted, but the severity cannot be anticipated
due to the wide intrafamilial variance. 

POSSIBLE CURE:
 Treatment effectiveness depends on early diagnosis. Burosumab
(Crysvita®), a monoclonal antibody, can reduce phosphate loss and
enhance vitamin D metabolism in both children and adults. 
 Cardio Vacsular Diseases:

Raynaud’s Disease
Anatomy and Physiology

CN 111/L (4799)

Collegee of Health Science Education

Submitted to:

Kristine Ann C. Salanap

Instructor

Submitted by:

Sharanel Tajas Borromeo

Bs Nursing 1st Year

September 12, 2022

 CARDIO VASCULAR DISEASES
RAYNAUD'S DISEASE

PATHOGENICITY:
 The short-term blockage of blood flow to the extremities, such as the
fingers and toes, is known as the Raynaud's phenomenon. Raynaud's
phenomenon could be an indication of an underlying autoimmune
condition like lupus or scleroderma. 
HISTORY:
 The condition known as Raynaud's phenomenon results in decreased
blood flow to the fingers. In some instances, it also results in decreased
blood flow to the nose, knees, nipples, ears, and toes. Blood vessels in
certain locations spasm, which causes this to happen. Spasms are brought
on by the cold, tension, or emotional distress. Primary form of Raynaud's
might happen on its own. Alternately, it could develop related to another
illness. 
HEREDITARY/ VIRAL/BACTERIA:
 Cold temperatures, anxiety, or stress are the usual causes of Raynaud's
disease. Your blood vessels experience a brief spasm that prevents blood
flow, which causes the disease. As a result, the afflicted area transforms
from white to blue to red as the blood flow resumes. 
POSSIBLE CURE:
 Although Raynaud's disease cannot be cured, it is treatable. Planning
ahead is essential for treating Raynaud's symptoms because the goal is to
try to prevent an attack. Here are some strategies to help you control the
symptoms of Raynaud's phenomenon and lead as normal a life as you
can. 
 Cardio Vacsular Diseases:

Aortic Stenosis
Anatomy and Physiology

CN 111/L (4799)

Collegee of Health Science Education

Submitted to:

Kristine Ann C. Salanap

Instructor

Submitted by:

Sharanel Tajas Borromeo

Bs Nursing 1st Year

September 12, 2022

 AORTIC STENOSIS
PATHOGENICITY:
 Aortic stenosis (AS) is characterized by the narrowing of the aortic valve,
which is primarily caused by a combination of progressive fibrosis and
calcification of the matrix. As a result, the valve becomes stiffer, its area
gradually decreases, and the left ventricular afterload and work are
subsequently increased. Degenerative calcification and rheumatic heart
disease are the two most common causes of acquired aortic stenosis. 
HISTORY:
 The primary artery that transports blood from the heart to the rest of the
body is the aorta. The aortic valve allows blood to exit the heart and enter
the aorta. The aortic valve does not fully open in aortic stenosis. This
decreases the heart's ability to pump blood. The left ventricle has to use
more effort to push blood out via the narrowing aortic valve. The muscles
in the ventricular walls thicken to handle this additional activity. Chest pain
may result from this. Blood may back up into the lungs as the pressure
keeps increasing. Blood flow to the brain and the rest of the body may be
restricted by severe aortic stenosis. 
HEREDITARY/ VIRAL/BACTERIA:
 Aortic stenosis risk increases by twofold when a first-degree relative has
the condition, according to new research. In addition, the study of 4.2
million persons from Danish registers discovered that patients with
ischemic heart disease and family history had an eight-fold greater chance
of developing aortic stenosis. 
POSSIBLE CURE:
 Surgical or percutaneous aortic valve replacement is the only effective
treatment for aortic stenosis in adults. Replacement is clearly indicated
when aortic stenosis-related symptoms start to manifest.
 Muscle Related Diseases:

Anatomy and Physiology

CN 111/L (4799)

Collegee of Health Science Education

Submitted to:

Kristine Ann C. Salanap

Instructor

Submitted by:

Sharanel Tajas Borromeo

Bs Nursing 1st Year

September 12, 2022

 MUSCLE RELATED DISEASES

PATHOGENICITY:

HISTORY:

HEREDITARY/ VIRAL/BACTERIA:

POSSIBLE CURE:

PATHOGENICITY:

HISTORY:

HEREDITARY/ VIRAL/BACTERIA:

POSSIBLE CURE: