Patella: lecture note

 Patella is the largest sesamoid bone of the body 

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It is a flat, rounded triangular bone which articulates with the femur (thigh bone) and covers and protects the anterior articular surface of the knee joint. 

Babies are born with a patella of soft cartilage which begins to ossify into bone at about four years of age.

Anatomical point 

1. pointed apex is directed downward

2. anaterior surface is convex 

3 posterior surface bears two facet lateral facet is larger than the medial facet 

it is located Within the quadriceps tendon, anterior to the knee joint

The patella (kneecap) is located at the front of the knee joint, within the patellofemoral groove of the femur. Its superior aspect is attached to the quadriceps tendon and inferior aspect to the patellar ligament.

Attachment : The apex of the patella is situated inferiorly and is connected to the tibial tuberosity by the patellar ligament. The base forms the superior aspect of the bone and provides the attachment area for the quadriceps tendon.

patella helps knee extension, allows for smooth movement during knee flexion/extension, protects the anterior surface of the knee joint

The patellofemoral joint is where the back of your patella (kneecap) and femur (thigh bone) meet at the front of your knee. 

It's involved in climbing, walking on an incline, and several other knee movements. 

It's also the joint affected by a common injury called "runner's knee.

Ossification. The patella is ossified from a single center, 

which usually makes its appearance in the second or third year, 

but may be delayed until the sixth year. More rarely, the bone is developed by two centers, placed side by side. 

Ossification is completed about the age of puberty.

summary of BRCA1 and BRCA2

BRCA1 and BRCA2: The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer.

The first major gene associated with hereditary breast cancer was BRCA1, located on chromosome 17.

BRCA1 and BRCA2 mutations are inherited in an autosomal dominant fashion, but act recessively on the cellular level as tumor suppressor genes involved in double-stranded DNA (dsDNA) break repair

BRCA1 and BRCA2 mutations may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Women who are diagnosed with breast cancer and have a BRCA1 or BRCA2 mutation often have a family history of breast cancer, ovarian cancer, and other cancers. Still, most people who develop breast cancer did not inherit a genetic mutation linked to breast cancer and have no family history of the disease.

Overall, white women are slightly more likely to develop breast cancer than African American women, although the gap between them has been closing in recent years. In women under age 40, breast cancer is more common in African American women. African American women are also more likely to die from breast cancer at any age. Asian, Hispanic, and Native American women have a lower risk of developing and dying from breast cancer.

Risk in different groups also varies by type of breast cancer. For example, African American women are more likely to have the less common triple-negative breast cancer.

Many studies have found that taller women have a higher risk of breast cancer than shorter women. The reasons for this aren’t exactly clear, but it may have something to do with factors that affect early growth, such as nutrition early in life, as well as hormonal or genetic factors. 

Breasts are made up of fatty tissue, fibrous tissue, and glandular tissue. Breasts appear denser on a mammogram when they have more glandular and fibrous tissue and less fatty tissue. Women with dense breasts on mammogram have a higher risk of breast cancer than women with average breast density. Unfortunately, dense breast tissue can also make it harder to see cancers on mammograms.

A number of factors can affect breast density, such as age, menopausal status, the use of certain drugs (including menopausal hormone therapy), pregnancy, and genetics.

Women diagnosed with certain types of benign (non-cancer) breast conditions may have a higher risk of breast cancer. Some of these conditions are more closely linked to breast cancer risk than others. Doctors often divide benign breast conditions into different groups, depending on how they affect this risk.

Fragile X syndrome

Fragile X syndrome is a X link dominant genetic condition in which mutation occurs  in the FMR1  gene cause fragile X syndrome.

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this disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females
Symptoms include balance problems, shaky hands, unstable mood, memory loss, cognitive problems and numbness in the hands and feet. 
Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks.

Alcohol withdrawal syndrome

Alcohol withdrawal syndrome   can occur following a reduction in alcohol  use after a period of excessive use.

Symptoms typically include

Sweating 

anxiety 

Vomiting

Shakines

Fast heart rate 

Mild fever 

Alcoholic hallucinations

Autonomic instability  

Symptoms typically begin around six hours following the last drink, are worst at 24 to 72 hours, and improve by seven days.

Alcohol withdrawal may occur in those who are addicted on  alcohol 

The typical treatment of alcohol withdrawal is with benzodiazepins such as chlordiazepoxide or diazepam

Often the amounts given are based on a person's symptoms.

 Thiamineis recommended routinely. Electrolyte imbalance and reduce blood sugar level should also be treated.

 Early treatment improves outcomes

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Anatomy of hip bone

 Anatomy of hip bone 

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part 1 

Anatomical points

general information 

ligaments of hip bone 

Anatomical points

1.       Pubic crest and ischial spine lies in same horizontal plane

2.       Anterior superior iliac spine and pubic tubercle lies in same coronal plane

3.       Pubis symphysis lies in the median place

4.       Acetabulum lies lateral

5.       Iliac crest lies above

Morphologically what type of bone it is?

Ans: irregular bone

What are the joints formed by this bone?

1.       Hip joint : ball & socket variety of synovial joint

2.       Pubic symphysis : 2^nd cartilaginous joint

3.       Sacroiliac joint:  plane types of synovial joint

Parts of hip bone

1.       the ilium 

2.       ischium, and 

3.       pubis. 

How hip bone of children are look like?

 Ans: At birth, these three components are separated by hyaline cartilage. They join each other in a Y-shaped portion of cartilage (triradiate cartilages) in the acetabulum. By the end of puberty, the three regions will have fused together, and by the age 25 they will have ossified.

ossification : intracartilaginous 

it has 3 primary ossification centres for ilium, ischium and pubis 

and 8 secondary ossification centres, 

one for iliac crest 

one for anterior inferior iliac spine 

ischial tuberosity 

pubis symphysis 

Y shape cartilage 

hip bone of children : 

At birth, ilium, ischium, pubis are separated & joined by the y shaped epiphyseal plate (hyaline cartilage) located at the acetabulumBy the by the age 25,  ilium, ischium & pubis are ossified and fused together

ligaments of hip bone 

1. •      It is an intra articular ligament  present within the joint cavity of hip joint

•      It is lined by synovial membrane

•      In the adult, functions  include :

1.      Stabilize hip joint

2.       distribution of synovial fluid

•      congenital absence of the ligamentum teres may occur

 •        In the infant it has a significant role as it transmits a nutrient artery to the femoral head epiphysis

•      Extension :  apex is attachd with the fovea capitis femoris and  base is attached  into the acetabular notch, and blends with the transverse ligament •  

         

Y iliofemoral ligament 

sh   shape : Y shape 

•      It can resist upto 350 kg weight

•      Extension :

•      From anterior inferior iliace spine & rim of acetabulum to intertrochanteric line of femur •      Ischiofemoral ligament

•      Shape: triangular band

•      Location : the posterior side of the hip joint.

•      Extension :start  from  ischium and posterior part of  acetabulum, then it blends with posterior end of the hip  joint  and come anteriorly and attached  at the intertrochanteric line of the femur deep to the iliofemoral ligament •   

          Pubofemoral ligament

•      Shape : triangular

•      Location : inferior part of hip joint

•      Extension : start from  the obturator crest & the superior ramus of the pubis;

•      below, it is attached with intertrochanteric line the deep to the iliofemoral ligament. This ligament prevents hyper-abduction &  extension  of the hip joint.

•       

 

 

•     

klinfilter syndrome

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome

Signs and symptoms may include:

• Taller than average stature
• Longer legs, shorter torso and broader hips compared with other boys
• Absent, delayed or incomplete puberty
• After puberty, less muscle and less facial and body hair compared with other teens
• Small, firm testicles
• Small penis
• Enlarged breast tissue (gynecomastia)
• Weak bones
• Low energy levels
• Tendency to be shy and sensitive
• Difficulty expressing thoughts and feelings or socializing
• Problems with reading, writing, spelling or math

• Low sperm count or no sperm
• Small testicles and penis
• Low sex drive
• Taller than average height
• Weak bones
• Decreased facial and body hair
• Less muscular compared with other men
• Enlarged breast tissue
• Increased belly fat

• Klinefelter syndrome can be caused by:

  • One extra copy of the X chromosome in each cell (XXY), the most common cause
  • An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms
  • More than one extra copy of the X chromosome, which is rare and results in a severe form

  • Klinefelter syndrome may increase the risk of:

    • Anxiety and depression
    • Social, emotional and behavioral problems, such as low self-esteem, emotional immaturity and impulsiveness
    • Infertility and problems with sexual function
    • Weak bones (osteoporosis)
    • Heart and blood vessel disease
    • Breast cancer and certain other cancers
    • Lung disease
    • Metabolic syndrome, which includes type 2 diabetes, high blood pressure (hypertension), and high cholesterol and triglycerides (hyperlipidemia)

Turner syndrome

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.

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Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood 

Prenatal ultrasound of a baby with Turner syndrome may show:

• Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
• Heart abnormalities
• Abnormal kidneys                                 Signs of Turner syndrome at birth or during infancy may include:
• • Wide or weblike neck
  • Low-set ears
  • Broad chest with widely spaced nipples
  • High, narrow roof of the mouth (palate)
  • Arms that turn outward at the elbows
  • Fingernails and toenails that are narrow and turned upward
  • Swelling of the hands and feet, especially at birth
  • Slightly smaller than average height at birth
  • Slowed growth
  • Cardiac defects
  • Low hairline at the back of the head
  • Receding or small lower jaw
  • Short fingers and toes।                        Causes
  • Monosomy
  • Mosaicsm
  • X chromosomal changes 

  • Complications

    Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur include:

    • Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
    • High blood pressure. Turner syndrome can increase the risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels.
    • Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
    • Vision problems. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome.
    • Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.
    • Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with gluten intolerance (celiac disease) or inflammatory bowel disease.
    • Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).
    • Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention.
    • Mental health issues. Girls and women with Turner syndrome may have challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
    • Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment.
    • Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.