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.

Genetics of prostate cancer

The public health burden of prostate cancer is substantial. A total of 268,490 new cases of prostate cancer and 34,500 deaths from the disease are anticipated in the United States in 2022, making it the most frequent nondermatological cancer among U.S. male. 

Inharitant variants in particular genes, such as BRCA1, BRCA2, and HOXB13, account for some cases of hereditary prostate cancer. Men with variants in these genes have a high risk of developing prostate cancer and, in some cases, other cancers during their lifetimes. Prostate cancer may occur due to other cause. 

variants in the  BRCA1, BRCA2, and HOXB13, genes are inherited in an autosomal dominant pattern which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. In other cases, the inheritance of prostate cancer risk is unclear. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit variants in these genes will develop cancer.

Linkage analyses led to the successful identification of HOXB13 at 17q21-22 as a prostate cancer susceptibility gene

Gastroschisis

 

Gastroschisis

It is a birth defects characterized by a protrusion of abdominal contents through the body wall directly into the amniotic cavity

Situation: lateral umbilicus usually on the right

Cause: due to abnormal closure of the body wall around the connecting stalk , more common in young women , cocaine user

Covering of protruded structure : not covered by  peritoneum or amnion

Features :

1.  bowel may be damaged by exposure to amniotic fluid

2. 1/10000 births

3.   large region of intestine may damage  due to  of  lose  of blood supply due to rotation of gut (volvulus)

General somatic afferent : lecture notes

 General somatic afferent 

General somatic afferent

General somatic afferent fibers convey impulses for exteroreceptors of the skin (cutaneous sensation of pain, temperature, touch, vibration, or pressure) & from proprioreceptors localized in the muscles, joints, ligaments, or in the periosteum of bones via spinal nerves and some cranial nerves.

Nerves contain general somatic afferent fibres

1. All the spinal nerves, except occasionally the first cervical, and conduct impulses of pain, touch and temperature from the surface of the body through the dorsal roots to the spinal cord and impulses of muscle sense, tendon sense and joint sense from the deeper structures

2. Trigeminal nerve:

Ophthalmic nerve:   general somatic afferents fibre of this nerve supply  to the upper face, skull, and eye:

·         Face: Upper eyelid and associated conjunctiva. Eyebrow, forehead, scalp all the way to the lambdoid suture.

·          

·         Skull: Roof of orbit, frontal, ethmoid, and possibly sphenoid sinuses.

·         Eye: The eye itself (all the intraocular structures such as cornea) and the lacrimal gland and sac.

 

·         Maxillary nerve : general somatic afferents fibres of this nerve supply to the mid-face and skull:

·         Face: Lower eyelid and associated conjunctiva. Cheek, upper lip.

·         Skull: Orbital floor, maxillary sinus, upper teeth, nasal cavity, and palate, cheekbone.

 

 Mandibular nerve : The sensory fibres associated with the mandibular branch of CN V provide innervation to:

·         The facial skin in the lower third of the face, including the chin and lower lip

·         Inferior row of teeth and gingiva

·         The anterior two thirds of the tongue

3. Facial  nerve : The facial nerve carries axons of type GSA, general somatic afferent, to skin of the posterior ear. 

4. Glossopharyngeal nerve: the glossopharyngeal nerve transmits general sensory information from inside of the tympanic membrane, skin of the external ear, upper portion of the pharynx and general sensation from the posterior one-third of the tongue.

5. Vagus nerve GSA axons carry pain, temperature, and touch sensations from the posterior cranial fossa, posterior ear, external auditory meatus, pharynx, and posterior, and the external surface of the tympanic membrane

General somatic afferent (sensory) nuclei

General somatic afferent (sensory) nuclei related with spinal nerve

• Marginal zone (MZ, posterior marginalis) – located at the tip of the dorsal horn, and is important for relaying pain and temperature sensation to the brain.
• Substantia gelatinosa (SG) – located at the top of the dorsal horn, the SG is important for relaying pain, temperature and light touch sensation to the brain.
• Nucleus proprius (NP) – located in the ‘neck’ of the dorsal horn, the NP relays mechanical and temperature sensation to the brain.

General somatic afferent (sensory) nuclei related with trigeminal, facial, glossopharyngeal & vagus nerve

 

·         The main or principal sensory nucleus of the trigeminal nerve: This nucleus lies in the upper part of the pons, in the lateral part of the reticular formation. It lies lateral to the motor nucleus of the trigeminal. The superior sensory nucleus is mainly concerned in mediation of proprioceptive impulses, touch and pressure.

·         The spinal nucleus of the trigeminal nerve: The spinal nucleus is another sensory cranial nerve nucleus which extends from the main nucleus (superior sensory nucleus) in the pons down into the medulla, &  into the upper two segments of the spinal cord. The lower end of the spinal nucleus is continuous with the substantia gelatinosa of the spinal cord. The spinal nucleus receives general somatic sensations carried by the facial, glossopharyngeal and vagus nerves. Functions of the spinal nucleus includes mediation of pain and thermal sensibility. The spinal nucleus is divisible (cranio-caudally) into three sub-nuclei, the oralis, interpolaris, and caudalis.

·         The mesencephalic nucleus of the trigeminal nerve: This is also called the mesencephalic nucleus of the trigeminal nerve. It extends cranially from the upper end of the main sensory nucleus in the pons into the midbrain. In the midbrain, the mesencephalic nucleus lies in the central grey matter lateral to the aqueduct. Functionally, this nucleus appears to be similar to sensory ganglia of the cranial nerves, and to the spinal ganglia, rather than to afferent nuclei. The processes (dendrites) of the neurons of this nucleus are believed to carry proprioceptive impulses from muscles of mastication, and possibly also from muscles of the eyeballs, face, tongue and teeth. The mesencephalic nucleus is the centre for jaw jerk.

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