Congenital Malformation

Is an anatomical Abnormality present at birth

Causes
1. 2.
i.

Genetic Factors Environmental Factors

Infectious agents: rubella virus, cytomegalo virus, Syphylis, toxoplasma. Radiation Drugs: alcohol, antibiotics, anticoagulant, antitumor, anticonvulsant

ii. iii.

Congenital Infections
Toxoplasma Others: HIV Rubella Cytomegalo virus Hepatitis virus

Microcephaly


 

Is an abnormally small head which reflects defective brain growth Features: small skull, severe mental defect Causes: 1- genetic abnormalities 2- congenital infection: cytomegalovirus, herpes simplex virus , toxoplasma 3- X- ray 4- Birth Trauma

Cleft Lip


Is a malformation of the upper lip without or with cleft palate

Features: Defect may be unilateral or bilateral Causes: 1- genetic or chromosomal abnormalities 2- Drugs: Diazepam, cortisone

Syndactyly


Is partial or total webbing or fusion of two or more fingers or toes Causes: Genetic abnormalities

Achondroplasia


Is a congenital abnormality in the process of ossification in cartilage Features: short limbs, large head, thoracic kyphosis Causes: 1- Radiation 2- carcinogenic agents

Phocomelia & Amelia

Phocomelia : seal- like sealextremity while amelia : absence of the limb
 

Causes: Thalidomide, untreated diabetes mellitus

Klinefelter Klinefelters syndrome



A common form of genetic disease in males characterized by aberrations in sex chromosomes ( one more X chromosome ; XXY) Features: Features: mental retardation, infertility, small testes, long limbs, gynaecomastia

Cont. Klinefelters syndrome Klinefelter

 1. 2. 3. 4.

Causes Radiation Hyperthyroidism Maternal Diabetes Viral infection

Turner Turners Syndrome



Is a genetic disease in females characterized by aberrations in sex chromosomes (XO) Features: Webbed neck Absence of ovaries Amenorrhea Sterility

 1. 2. 3. 4.

Down Downs Syndrome( Mongolism)



 1.

2. 

Is a genetic disease characterized by a numerical abnormality in autosomal chromosomes; trisomy 21 Features: Flat Skull, Slanting eyes, Thickened tongue, Mental retardation Complications: epilepsy, leukemia Causes: maternal diabetes, hyperthyroidism

Cri du chat ( cat-cry syndrome) cat

 1. 2. 3.

Is a hereditary condition marked by abnormal smallness of the head and jaw, severe mental deficiency and a characteristic high-pitched highcat like cry Features: Mewing sound on crying Severe mental retardation Typical moon-like face moon-

Cont. Cri du chat



 1. 2. 3.

Causes: Deletion of the short arm of chromosome number 5. Causative Factors Administration of LSD Heavy smoking radiation

Fetal alcohol syndrome

Is a syndrome attributed to the consumption of alcoholic beverages by women during pregnancy which results in significant growth problems in a developing child  Causes: alcohol passes freely across the placenta between a developing child and mother


Fetal alcohol syndrome( FAS)

 1. 2. 3.

Features: Mental retardation Growth deficiency Special facial characteristics: abnormalities in eyes (strabismus), ears, mouth( cleft lip), heart , kidney, skin (strawberry birth mark)

poison Salicylates CPZ Chloral hydrate ethanol Nicotine

Biological fluid serum Urine urine urine serum

Reagent used HgCL2+ H2O+ FeCL3 FeCL3+Conc. H2SO4 NaOH + pyridine Acid dichromate HgCL2

Colour developed Violet colour Purple colour Red colour green White ppt turns into yellow color

Blood Stain


Preliminary Test:
Depend on the presence of oxidase enzyme in blood.  is a good negative test that exclude the presence of the blood but it can not prove it.  reagent used changes its colour by oxidation: Reagent + Stain extract + H2O2( oxygen donor) Oxidized reagent ( colour change)


Preliminary Tests
1- Guaiacum test:
Using Alcoholic guaiacum resin soln (yellow) Green colour indicates the presence of oxidase & presence of blood is probable

2- Benzidine test:
blue colour indicates presence of oxidase enzyme 3- Kastle-Mayer: KastlePink colour indicates presence of oxidase enzyme

Confirmatory tests
1.

Microscopical test: Valid only in fresh blood stain but ve in old stains as RBCs are degenerated RBC
Human RBC RBCs circular Camel RBCs Frog RBCs RBC RBC oval nucleated

NonNon-nucleated Non-nucleated Non-

Cont. Confirmatory tests

2- Microchemical tests: Depend on the presence of Hb i- Teichman test: Depend on formation of acid haematin brown rhombic regular crystal ii- Takayama test: iiDepend on formation of alkaline haematin pink needles iii- Spectroscopical test: iiiHb gives a characteristic absorption band on the yellow spectrum between D and G lines

Classification of antidotes
1.

Chemical antidotes: act chemically to form a nontoxic compound Example: strychnine & tannic acid Physical antidotes: remove poison or prevent absorption by a physical mean such as adsorption Example: strychnine & charcoal Physiologic antidotes: whose actions are opposite to that of the poison Example: Strychnine ( CNS stimulant) & Medinal ( CNS depressant)

2.

3.

1-Vomiting : Heavy metals, corrosive acid & alkali. 2- Convulsions: strychnine, cardiazol. 3- Delirium: morphine & heroin. 4- General paralysis: carbon monoxide 5- partial paralysis: curare 6- Mydriasis: active Mydriasis: passive adrenaline, atropine

7- Miosis: pilocarpine, morphine Miosis:

8- Rapid respiration: cocaine alkaloid 9- Cynosis: aniline 10- haemolytic anemia: saponin 1011- aplastic anemia: chloramphenicol 1112-Decrease in coagulatability: Dicumarol, heparin 1213- Dark red blood: nicotine 1314- purple yellow vision: cannabis 1415- blurred vision: atropine 1516- tinnitus: salicylates 16-