Juvenile Hyaline Fibromatosis Case Study

The external auditory canals are not remarkable:. No evidence of trauma is noted in the scalp, forehead, cheeks, lips or chin. The neck shows no evidence of trauma. Examination of the hands and nails shows no defects. The lower extremities show no evidence of trauma.

Description of the limb girdle muscular dystrophies [LGMD2B] Autosomal recessive Limb girdle muscular dystrophy 2B also known as dysferlinopathy, is due to the mutations in the gene dysferlin which codes for the protein involved in the membrane repair. It is ultimately mapped to the chromosome region 2p13 (C. Angelini*{, 2010)[1] which is caused by primarily, proximal weakness. (Aoki, 2004)

It occurs when infection develops inside the muscles or organs, more than likely from a trauma. Clostridium perfringens releases dangerous toxins into the body along with gas which can be trapped inside the tissue of muscles or organs. As the infection prolongs, the skin may become a pale-grayish color, and if you press the skin or put pressure on a tissue it may make a crackling noise because of the gas inside the tissue.(6) If you are diagnosed with gas gangrene you would need immediate medical treatment or death could occur in 48 hours. In Gas gangrene, the bacteria Clostridia release alpha, beta and other toxins, which induce blood clotting in the infection and leads to myonecrosis.

(A) Mid-coronal cut section of the resected left femoral head shows a linear fracture line paralleling the subchondral bone endplate. (B) The photomicrograph obtained from the subchondral fractured lesion shows marked fracture callus and vascular rich granulation tissue (hematoxylin and eosin, ×100). Learning points Preventing post-traumatic osteoarthritis is a challenging problem in patients with acetabular

MENTAL STATUS EXAMINATION Patient has an average female build. She displays good hygiene, no visible lesions or skin rashes. Patient does not appear to be under any physical distress. A good range of emotions displayed.

It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person

This can be due to Small study group comprising 65 patients, Irregular presence of onsite cytopathologist for supervision (11, 12), 4 patients were lost on follow up. Therefore the presence of cytopathologist produces good diagnostic yield. Incidence of complication due to the procedure of CT guided transthoracic fine-needle aspiration cytology of lung lesions.

Glaucoma is the increase in intraocular pressure caused by the inability of the intraocular fluid to leave vis the iridocorneal angle. This is due to the blockage of the iridocorneal angle by the dislocated lens. The OFA offers a DNA test for primary lens luxation. 14 Please refer to the list of ophthalmology photos located after

It has been suggested that oxidative damage may be an important source of somatic mutations at the basis of the so-called “somatic mutation theory of aging”. This theory hypothesizes that the accumulation of genetic mutations in somatic cells represents the specific cause of senescence (Beckman and Ames

This progressive disease presents itself with cerebellar ataxia and spasticity. Rapid neurologic deterioration is triggered by minor stress conditions like fever or mild head trauma, and lead to coma and eventually death. A mutation in any of the five genes encoding the subunits of eukaryotic translation initiation factor eIF2B causes this clinical picture. The diagnosis of VWM is made by a MRI, which shows cystic degeneration of white matter shown, which is filled up by cerebrospinal fluid. At the end stage of VWM all brain white matter is replaced by cerebrospinal fluid (cf) (Mejaški-Bošnjak et al., 2009).

Cystic Fibrosis is caused by a mutated gene that changes the protein that controls the salt in and out of the cell. There are many different mutation which can change the severity of the disease in each case. For this to be passed on a child must receive one copy of the gene from each parent to develop this disease. If a child receives a copy from only one parent then