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General Pathology

Osteogenesis Imperfecta (OI) (Brittle bone diseases) 

It is a group of hereditary disorders caused by gene mutations that eventuate in defective synthesis of and thus premature degradation of type I collagen. The fundamental abnormality in all forms of OI is too little bone, resulting in extreme susceptibility to fractures. The bones show marked cortical thinning and attenuation of trabeculae. 

Extraskeletal manifestations also occur because type I collagen is a major component of extracellular matrix in other parts of the body. The classic finding of blue sclerae  is attributable to decreased scleral collagen content; this causes a relative transparency that allows the underlying choroid to be seen. Hearing loss can be related to conduction defects in the middle and inner ear bones, and small misshapen teeth are a result of dentin deficiency 

Immunodeficiency

This may be :- 
- Congenital (Primary)
- Acquired (Secondary)

Features : Complete or near complete lack of T & B lymphoid tissue. Fatal early in life Even with marrow grafting, chances of graft versus host reaction is high.


T Cell Defects :

- Thymic dysplasia
- Digeorge’s syndrome
- Nazelof’s syndrome
- Ataxia teltngiectaisa
- Wiscott Aldrich’s syndrome

These  lessons show predominantly defective cell mediated immunity. But they may also show partial immunoglobulin defects cell mediated immunity. But they may also show partial immunoglobulin defects due to absence og T-B co-operation.

C. Humoral immunity defects.
Bruron type- aggammaglobulinaemia.
- Dysgammaglobulinaemias-variable immunodeficiency’s of one or more classes.

Acquired deficiency

A. Immuno suppression by :
- Irradiation.
- Corticoids.
- Anti metabolites.
- Anti lymphocyte serum.

B. Neaplasia  of lymphoid system :

- Hodgkin's and Non Hodgkin's lymphomas.
- Chronic lymphocytic leukaemia..
- Multime myeloma and other paraproteinaemias (normal immunoglobulins reduced in spite of hyperglobulinaemia).

c. excessive protein loss.
- Nephrotic Syndrome.
- Protein losing enteropathy.

 

INFLUENZA

An acute viral respiratory infection with influenza, a virus causing fever, coryza, cough, headache, malaise, and inflamed respiratory mucous membranes.

Influenza B viruses typically cause mild respiratory disease

Symptoms and Signs

mild cases:

Chills and fever up to 39 to 39.5° C

Prostration and generalized aches and pains, Headache, photophobia and retrobulbar aching

Respiratory tract symptoms may be mild at first, with scratchy sore throat, substernal burning, nonproductive cough, and sometimes coryza. Later, the lower respiratory illness becomes dominant; cough can be persistent and productive.

severe cases

sputum may be bloody. Skin is warm and flushed. Soft palate, posterior hard palate, tonsillar pillars, and posterior pharyngeal wall may be reddened, but no exudate appears. Eyes water easily, and the conjunctiva may be mildly inflamed

Encephalitis, myocarditis, and myoglobinuria are infrequent complications of influenza and, if present, usually occur during convalescence

German measles (rubella)
 - sometimes called "three day measles".
 - incubation 14-21 days; infectious 7 days before the rash and 14 days after the onset of the rash.
 - in adults, rubella present with fever, headache, and painful postauricular Lymphadenopathy 1 to 2 days prior to the onset of rash, while in children, the rash is usually the first sign.
 - rash (vasculitis) consists of tiny red to pink macules (not raised) that begins on the head and spreads downwards and disappears over the ensuing 1-3 days; rash tends to become confluent.
 - 1/3rd of young women develop arthritis due to immune-complexes.
 - splenomegaly (50%) 

Rickettsial Diseases

Epidemic Typhus

An acute, severe, febrile, louse-borne disease caused by Rickettsia prowazekii, characterized by prolonged high fever, intractable headache, and a maculopapular rash.

Symptoms, Signs, and Prognosis

After an incubation period of 7 to 14 days, fever, headache, and prostration suddenly occur. Temperature reaches 40° C (104° F) in several days and remains high, with slight morning remission, for about 2 wk. Headache is generalized and intense. Small pink macules appear on the 4th to 6th day, usually in the axillae and on the upper trunk; they rapidly cover the body, generally excluding the face, soles, and palms. Later the rash becomes dark and maculopapular; in severe cases, the rash becomes petechial and hemorrhagic. Splenomegaly occurs in some cases. Hypotension occurs in most seriously ill patients; vascular collapse, renal insufficiency, encephalitic signs, ecchymosis with gangrene, and pneumonia are poor prognostic signs. Fatalities are rare in children < 10 yr, but mortality increases with age and may reach 60% in untreated persons > 50 yr.

General chromosome abnormalities
The normal human cell contains 46 chromosomes, including 22 homologous pairs of autosomes and one pair of sex chromosomes (XX for female and XY for male). A somatic cell is diploid, containing 46 chromosomes. Gametes are haploid, containing 23 chromosomes.
Aneuploidy
(a) Any deviation in the number of chromosomes, whether fewer or more, from the normal haploid number of chromosomes.
(b) Nondisjunction—a common cause of aneuploidy. It is the failure of chromosomes to pass to separate cells during meiotic or mitotic cell division.
(c) Often seen in malignant tumors.
 

Deletion: loss of a sequence of DNA from a chromosome.
 

Translocation: the separation of a chromosome and the attachment of the area of separation to another chromosome.

Eczematous Dermatitis
Eczematous dermatitis includes a large category of skin lesions characterized by severe pruritus and distinctive gross and microscopic features.
 - type I hypersensitivity is involved with atopic dermatitis in patients who have an allergic history.
 - type IV hypersensitivity is involved in contact dermatitis (poison ivy).
 - acute eczematous dermatitis is characterized by a weeping, pruritic rash, while a chronic eczematous dermatitis presents with dry, scaly, plaque-like thickening of the skin, a process called lichenification.  

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