MODY

The most common MODY type is HNF1 alpha. This is responsible for 70% of MODY.

The amount of insulin produced by the pancreas becomes less as the person gets older, and MODY develops during adolescence or the early twenties.

Glucokinase is the second type of MODY, and occurs when this gene (that aids the body in recognising blood glucose levels) malfunctions.

This type of MODY can be hard to identify, and symptoms can be particularly slow in manifesting themselves.

It is usually picked up during routine testing. When a person is pregnant, it is important to screen for it.

HNF4 - alpha is a less common form of MODY that is often diagnosed at a later stage. HNF1 - beta is a type of MODY associated with renal cysts.

PDX1 and IPF1 are the same type of MODY, and are incredibly rare, affecting only one UK family to date.

NeuroD1 is another rare type of MODY, affecting only two families in the UK. Little information is available about the rarer forms of MODY.

Ducts

Quick revision of some important ducts :
Bellini’s duct - Straight collecting tubules of the kidney.
Bartholin’s duct - the major duct of the sublingual gland.
Cystic duct - excretory duct of gall bladder.
Gartner’s duct - a remnant of Wolffian duct.
Mullerian duct - bilateral ducts in the embryo that form the uterus, vagina and fallopian tubes.
Wirsung’s duct - pancreatic duct.
Santorini’s duct - accessory pancreatic duct.
Wharton’s duct - duct of submandibular gland.
Vitelline duct - the narrow duct in the embryo that connects the yolk sac with the intestine.
Ducts of Rivinus - 5 to 15 ducts that drain the posterior portion of the sublingual gland.
Stensen’s duct - parotid duct.
Pecquet’s duct - Thoracic duct.
Hensen’s duct - ductus reunions.
Hoffman’s duct - pancreatic duct or Wirsung’s duct.
Bernard’s duct - Accessory pancreatic duct or Santorini’s duct.

INDIA NEWBORN ACTION PLAN

🔹 Peri conceptional folic acid
🔹Administer corticosteroids in preterm labour and Antibiotics for PROM
🔹Delayed cord clamping and vit K at birth
🔹 care of healthy newborn by ASHA for 6 wks (42 days)
🔹 care of small/sick Newborn (like inj. Gentamicin to prevent sepsis to be given by ANM)
🔹 care beyond Newborn survival

- Screen for 4 Ds  i.e. Defects or birth defects, development delays, deficiency, diseases
- Follow up of SNCU babies by ASHA for 1 year and LBW babies for 2 year

Kindly correct previous one - LBW for 2 years

AMBIGUOUS LEUKEMIA

AMBIGUOUS LEUKEMIA

3 TYPES:

1) UNDIFFERENTIATED ACUTE LEUKEMIAS:
Lack morphologic or immunologic differentiating features;
Blasts cell express HLA-DR,CD34,CD38,TdT( terminal deoxynucleotidase) and CD7.

2) BILINEAL ACUTE LEUKEMIA:
Two populations of blasts expressing distinct lineage markers of myeloid or lymphoid origin or B- and T-cell lineage

3) BIPHENOTYPIC ACUTE LEUKEMIA:
Same Blast cell coexpress myeloid and lymphoid antigen both ..usually seen in BLAST CRISES OF CHRONIC MYELOID LEUKEMIA

Wilsons Disease

Wilson's disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues. Metabolic abnormalities include increased copper absorption from the small intestine and decreased hepatic copper excretion. Wilson's disease is caused by a defect in the ATP7B gene located on chromosome 13.

Features result from excessive copper deposition in the tissues, especially the brain, liver and cornea:
• liver: hepatitis, cirrhosis
• neurological: basal ganglia degeneration, speech and behavioural problems are often the first manifestations
• Kayser-Fleischer rings
• renal tubular acidosis
• haemolysis
• blue nails

Diagnosis
• reduced serum caeruloplasmin
• increased 24hr urinary copper excretion

HHV

HHV1 - HSV1 (Herpes Simplex Virus 1 commonly known as oral herpes)
HHV2 - HSV2 (Herpes Simplex Virus 2 commonly known as genital herpes)
HHV3 - VZV (Varicella Zoster Virus commonly known as chickenpox or shingles)
HHV4 - EBV (Ebstein Barr Virus commonly known as infectious mononucleosis [mono or glandular fever])
HHV5 - CMV (Cytomegolo Virus is the most common virus transmitted to a pregnant woman's unborn child)
HHV6 - Roseolovirus more commonly known as the 6th disease or Roseola Infantum
HHV7 - Similar to HHV6 (not yet classified)
HHV8 - A type of rhadinovirus known as the Kaposi's sarcoma-associated herpesvirus (KSHV

HLA

HLA diseases are mainly due to HLA A , HLA B, HLA-DR

HLA B-27

very popular mnemonic : PAIR from first Aid

P soriasis

A nkylosing spondylitis
I nflammatory bowel disease
R eiter’s syndrome.
………………………………………

HLA B-8 : Graves disease
In GRAVE yard maggots BITE (B8), So Grave is B8

………………………………………………….
HLA-DR2 :

A person looks into his mobile and then tells to his wife : Hey MSG about Appointment to DR

HeY – Hay fever
M – Multiple Sclerosis
S – SLE
G – Goodpasture’s
……………………………
HLA-DR4 : Rheumatoid Arthritis

Rheumatoid Arthritis Affects Joints and We have Four large Joints in our body like two shoulder and two hip Joints.
……………………………………….
HLA- DR5:

Hush Puppies : very popular footwear

Hush : Hasimoto’s Thyroiditis

Puppies : Pernicious Anemia ( P for Pentad = 5 )
…………………………………………………
HLA -DR7

My 7th Sense says that Nephrotic Syndrome responds to Steroid

Steroid responsive Nephrotic Syndrome
………………………………
HLA- DR3-DR4

3 -4 I want More ( Diabetic patient Eats more )

Type 1 DM
………………………..
HLA -A3

Hemochromatosis

Iron has 3 positive charges (+3) and “He ” Sounds like “Ae” So A3 in Hemochromatosis .