W1 515 short notes

What is the definition of pathology?

The scientific study of disease, including its cause (aetiology) and mechanism (pathogenesis).

What does aetiology refer to in pathology?

Aetiology refers to the cause of a disease.

What is pathogenesis?

Pathogenesis is the mechanism or development of a disease.

What are pathological changes?

Pathological changes refer to lesions which can be morphological (structural) or functional.

What is anatomic pathology?

Anatomic pathology is a medical specialty that focuses on diagnosing disease through examination of organs, tissues, and cells.

What is a lesion?

A lesion is an anatomical abnormality or various types of cellular changes in response to disease.

Differentiate between signs and symptoms.

Signs are indications observed by professionals during examination; symptoms are reported by the patient or others.

What are congenital diseases?

Congenital diseases are conditions present at birth.

What are the main techniques used in anatomic pathology?

Techniques include light microscopy, immunohistochemistry, electron microscopy, and molecular pathology.

What does the prefix 'Dys-' mean?

The prefix 'Dys-' indicates disordered or abnormal.

What is an example of a point mutation?

A point mutation is the substitution of a single nucleotide base by a different base.

What does autosomal dominant inheritance mean?

In autosomal dominant inheritance, only one mutant allele is needed to express the disorder.

What is the feature of Marfan Syndrome?

Marfan Syndrome is characterized by tall stature, long limbs, and cardiovascular complications.

What is the common feature of Down syndrome?

Down syndrome is associated with an extra chromosome at chromosome 21, leading to specific physical and cognitive traits.

What is Klinefelter Syndrome?

Klinefelter Syndrome is a condition of male hypogonadism associated with the presence of one or more extra X chromosomes.

What are multifactorial disorders?

Multifactorial disorders arise from the complex interaction of genetic and environmental factors.

What causes Neonatal Respiratory Distress Syndrome?

Neonatal Respiratory Distress Syndrome is caused by insufficient pulmonary surfactant in premature infants.

What is the significance of genetic mutations in hereditary disorders?

Genetic mutations can lead to hereditary disorders being passed down from parents to offspring.

How are X-linked recessive disorders inherited?

Males are more frequently affected; daughters of affected fathers are carriers, while sons are not affected.