SOME COMMON ABNORMALITIES IN PERIPHERAL BLOOD SMEAR EXAMINATION

Anisocytosis
Variation in the size of RBC seen in Fe deficiency anemia, megaloblastic anemia, and sideroblastic anemia Poikilocytosis
Variation in the shape of RBC, seen in Fe deficiency anemia, thalassemia, and sideroblastic anemia.
Microcytosis
RBC size less than normal (< 75 fL), seen in Fe deficiency anemia, thalassemia, and sideroblastic anemia

Macrocytosis
size of RBC> 100 fL seen in vitamin B₁₂ and also folic acid deficiency

Hypochromia
RBC with less Hb, the increased central pallor is seen in Iron deficiency anemia, thalassemia, sideroblastic anemia
Basophilic stippling or punctate basophilia

Presence of scattered deep blue dots in the cytoplasm of RBC with Romanowsky staining, seen in pathologically damaged young red cells, severe anemia β thalassemia, and chronic lead poisoning.

Target cells—Flat red cells with a central mass of Hb (dense area) surrounded by a ring of pallor (pale area) and an outer ring of Hb (dense area), seen in chronic liver diseases, hyposplenism, and hemoglobinopathies.

Howell-Jolly bodies—seen in non-functioning or absent spleen and megaloblastic anemia.

Heinz’s bodies (Ehrlich’s bodies)—formed from denatured, aggregated hemoglobin, seen in thalassemia, hemolytic anemia due to G6PD deficiency, asplenia, and chronic liver disase.

Burn cells—RBC showing regularly placed spicules, seen in uremia.

Schistocytes—they are fragmented RBCs seen in intravascular bemolysis.

Spherocytes—small, densely packed RBCs with loss of central pallor, seen in hereditary spherocytosis and immunohemolytic anemias. 

                             VARIOUS DEFORMITIES

• Flexion, adduction, internal rotation: Posterior dislocation of hip.

• Flexion, abduction, external rotation: Anterior dislocation of hip.

• Gun stock deformity, S-shaped deformity, Cubitus varus: Supracondylar (SC) fracture of humerus.

• Dinner fork deformity: Colle’s fracture.

• Simian hand deformity (Ape thumb deformity): Median nerve injury.

• Policeman’s tip hand deformity—ERB ‘S palsy— Proximal (C5-C6 roots) brachial plexus injury.

• Boutonniere deformity (buttonhole deformity): Rheumatoid arthritis (RA) [flexion at proximal mterphalangeal (PIP), hyperextention at distal interphalangeal (DIP) joint].

• Swan neck deformity: RA (hyperextention at PIP, flexion at DIP).

• Intrinsic plus deformity: RA, VIP, cerebral palsy (CP) (flexion at metatarsophalangeal (MP) joints extention at IP joints).

• Intrinsic minus deformity: Leprosy (paralysis of intrinsic muscles).

• Thumb-in-palm deformity: Polio, CP, and stroke.

• Trigger thumb: Congenital constriction of flexorpollicis longus tendon sheath at MP joint.

• Madelung deformity: Wrist deformity (distal and radial bowing of distal radius, shortening of radius, subluxation of inferior radioulnar joint

Note: Distal fragment is the reference point to suggest the type of displacement.

Vegetations
Rheumatic fever	Nonbacterial thrombotic	Libman-Sacks endocarditis (SLE)	Infective endocarditis (IE)
Small ,warty	Small ,single, or multiple	Medium sized (small)	Large
Firm	Friable (Produce emboli)	Single or multiple	Bulky
Multiple	Along lines of closure	Flat, verrucous	Irregular
Friable (but less than those of NBTE)		Irregular	On upper surface of cusps
Along lines of closure of valves		On surface of cusps, both surfaces may be  involved; most common being the undersurface , less often on  mural ebdocardium	Less often on mural endocardium
		In pockets of valves
Sterile (no organisms)	Sterile	Sterile	Nonsterile (bacterial)
No destruction of underlying  valves or myocardium	Nondestructive	Destructive, may damage valve or myocardium	Ulcerates of perforates the underlying valve (or myocardium)
Seen in rheumatic fever	Seen in hypercoagulable states, eg, cancer, Promyelocytic leukemia, increased estrogenic state	Seen in SLE	Seen in IE

USG Obs & Gyne
-Gestational sac is earliest recognized at	5 weeks (32 days by transvaginal sonography)
-Foetal node is earliest recognized at	6 weeks.
-Foetal heart motion is earliest recognized at	6-7 weeks
-Foetal movements are earliest recognised at	8-9 weeks
-Placental implantation is earliest recognized at	8-9 weeks
-Fetal breathing movements are earliest recognized at	11 weeks
-Fetal spine can be recognized earliest at	12 weeks
-Fetal stomach. Kidneys. UB & Cardiac anatomy can   be earliest recognized at	16 weeks
-Fetal genitalia are earliest recognized at	14 weeks
-Epiphysis of distal end of femur can be earliest recognized at	32 weeks

GENETICS

on average, any two individuals share 99.9% of their DNA sequences. Thus, the remarkable diversity of humans is encoded in about 0.1% of our DNA.

FIRST DISEASE IN WHICH GENE THERAPY IS USED--- SEVERE COMBINED IMMUNODEFICIENCY DISEASE (SCID).

Autosomal monosomies are incompatible with fetal development.

Only monosomy compatible with live birth is due to involvement of sex chromatin- turner syndrome(45X)

 Disease with multifactorial inheritance-

Coronary heart disease, diabetes mellitus, cleft lip/cleft palate, hypertension, gout, pyloric stenosis, congenital heart disease.

Prader willi syndrome- paternal genomic imprinting and maternal uniparental disomy (both allele of gene comes from same parent either mother or father).

Autosomal dominant disorder with phenotypically normal parents have more than one affected child-  germline mosaicism.

Karyotyping is not done with the blood monocyte.

Karyotyping with light microscopy is done by- G banding(Giemsa banding)

DNA fragmentation in apoptosis is detected with the help of-  TUNEL( Terminal deoxynucleotidyl transferase mediated deoxyuridine triphosphate insitu nick end labelling).

Inheritance pattern of blood group system – by CODOMINANCE

Gene regulating normal morphogenesis during developmentis- Homeobox gene

Most common type of genetic polymorphism- single nucleotide polymorphism(SNP)

Study of multiple genes- Microarray

Blotting techniques-

southern blot- for DNA

Northern blot- for RNA

Western blot- for protein

Chromosomal abnormalities in down syndrome-

Trisomy 21(95%)- maternal non disjunction most common cause

Mosaicism(2%)

Robertsonian translocation(3%)- transfer of genetic material between two metacentric chromosomes.

Lawrence moon biedel syndrome- mental retardation, retinitis pigmentosa, polydactyly, hypogonadotropic hypogonadism, obesity( not asthenic)

Mc cune Albright syndrome- polyostotic form of fibrous dysplasia, pigmentation, precosious puberty(3p), mutation in GNAS α.

Most common cause of ambiguous genitalia in females- complete or classic 21α hydroxylase deficiency.

Rokitansky kuster hauser syndrome- vaginal atresia, absent uterus.

SOME COMMON ABNORMALITIES IN PERIPHERAL BLOOD SMEAR EXAMINATION

Anisocytosis
Variation in the size of RBC seen in Fe deficiency anemia, megaloblastic anemia, and sideroblastic anemia Poikilocytosis
Variation in the shape of RBC, seen in Fe deficiency anemia, thalassemia, and sideroblastic anemia.
Microcytosis
RBC size less than normal (< 75 fL), seen in Fe deficiency anemia, thalassemia, and sideroblastic anemia

Macrocytosis
size of RBC> 100 fL seen in vitamin B₁₂ and also folic acid deficiency

Hypochromia
RBC with less Hb, the increased central pallor is seen in Iron deficiency anemia, thalassemia, sideroblastic anemia
Basophilic stippling or punctate basophilia

Presence of scattered deep blue dots in the cytoplasm of RBC with Romanowsky staining, seen in pathologically damaged young red cells, severe anemia β thalassemia, and chronic lead poisoning.

Target cells—Flat red cells with a central mass of Hb (dense area) surrounded by a ring of pallor (pale area) and an outer ring of Hb (dense area), seen in chronic liver diseases, hyposplenism, and hemoglobinopathies.

Howell-Jolly bodies—seen in non-functioning or absent spleen and megaloblastic anemia.

Heinz’s bodies (Ehrlich’s bodies)—formed from denatured, aggregated hemoglobin, seen in thalassemia, hemolytic anemia due to G6PD deficiency, asplenia, and chronic liver disase.

Burn cells—RBC showing regularly placed spicules, seen in uremia.

Schistocytes—they are fragmented RBCs seen in intravascular bemolysis.

Spherocytes—small, densely packed RBCs with loss of central pallor, seen in hereditary spherocytosis and immunohemolytic anemias

Professional Negligence	Infamous Conduct
Absence of care, skill, willful negligence	Violation of Medical code of Ethics
Damage to person is present	Need not be present
Civil, criminal (trial) courts	State medical Council
Fine, Imprisonment	Erasure of Name
Appeal to higher court	Warning by State / Central govt.

1. The following statement is wrong regarding case control study
A it is useful for rare disease
B Early to do the study
C Incidence can be calculated
D It is a retrospective study 

Ans. C Incidence can be ...
> We cannot measure incidence, and can only estimate the relative risk.
Case control studies, often called ‘retrospective studies’ are a common first approach to test casual hypothesis.
 Case - control study or retrospective study has 3 features:
>Both exposure and out come have occurred before the start of study.
>The study proceeds backwards from effect to cause, (so called retrospective study)
> It uses a control group to come to inference.
> Matching of cases and controls to eliminate confounding factors is done in this study.
>Relative risk & odds ratio can be calculated but not incidence.