Partial mole

Fertilization of an ovum WITH genetic material by 2 sperms. It can be either 69XXX or

69XXY.
Triploid (both father and mather genetic material)
Fetus or parts of it are present (but dies early and doesnt develope)
Chorionic villi not all hydropic.
Focal trophoblast proliferation
10% becaomes invasive
Choriocarcinoma very rare

Agenesis of sacrum and lumbar spine causes flaccid paralysis of legs and dorsiflexed
contractures of feet.
May also present w/ urinary incontinence.

Assoc. w/ poorly controlled maternal diabetes

Hydatidiform (complete) mole

Note the grape like masses representing neoplastic chorionic villi lined by trophoblastic
tissue. They present as preeclampsia in the first trimester and a uterus too
large for gestational age. Ultrasound demonstrates a snowstorm effect. They may
progress into a choriocarcinoma if not adequately removed.

Fertilization of an ovum without genetic material by one sperm. It can either be 46XX
(90%) or 46XY(10%)
Diploid (only from father)
No embryo
Chorionic villi (grape like app) is all hydropic
Marked trophoblast proliferation
Invasive mole 10%
2% => choriocarcinoma

Diaphragmatic Hernia
affects up to 1 in 4000 births, commonly L sided
loops of bowel in chest, displacement of mediastinum
often diagnosed on antenatal ultrasound scan
present with respiratory distress
Features - reduced air entry, displaced apex beat + heart sounds
management > large NG tube + suction, surgical correction
high mortality due to pulmonary hypoplasia

Torches
dostudent
Toxo ==> chorioretinitis + hydrocephalus + intracranial calcifications
Rubella ==> PDA/pulm artery hypoplasia + cataracts + deafness + blueberry rash
CMV ==> Rubella with NO heart conditions
HIV
HSV2 ==> encephalitis and herpes lesions
Syph ==>saddle nose, saber shins, deafness, hydrops fetalis

FRUCTOSE AND GALACTOSE PATHWAYS. AND A HARRY POTTER MNEMONIC

I tend to confuse Aldolase B from the fuctose pathway, with Aldose Reductase.
Aldolase B turns Fructose-1-Phospate into DHAP and Glyceraldehyde. Its deficiency
causes Hereditary Fructose Intolerance (hypoglycemia, hyperuricemia, liver and kidney
damage)
Aldose reductase is the enzyme that reduces the galactose accumulated in the lens
of the eye into an insoluble product called galactitol, responsible for cataracts in
Galacotesemia. This enzyme also reduces Glucose into sorbitol in the lens of the
Diabetic eye.

So, how can I differentiate them?

Easy, with a Harry Potter Mnemonic!!!!
Just picture Ginny reducting the shit out of Aldos eyes, and there you have it:
Aldose Reductase = cataracts
Also, remember this;
Fructokinase deficiency: Essential fructosuria (benign)
Galactokinase deficiency: mild galactosemia, cataracts in early life
Galactose-1-Phosphate Uridyl Transferase deficiency: severe galacotsemia,
cataracts, liver damage, and mental retardation.

Transposition of the great arteries, CXR

TGA is the most common cyanotic congenital heart defect in neonates. Due to the right
to left shunting which bypasses the pulmonary circulation, it presents with early
cyanosis. Since the right heart is connected to the aorta and the left heart is connected
to the pulmonary arteries, two independent circulatory loops are formed. In order for
this condition to be compatible with life a septal defect (ASD or VSD) and a patent
ductus arteriosis is required. Chest x-ray may show an egg-shaped silhouette with
increased pulmonary vascular markings.
Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or
Lobstein syndrome) is a congenital bone disorder. People with OI are born with
defective connective tissue, or without the ability to make it, usually because of a
deficiency of Type-I collagen. This deficiency arises from an amino acid substitution of
glycine to bulkier amino acids in the collagen triple helix structure.
More than 90% of people with OI have gene mutation in COL1A1 and COL1A2, that
code pro1(I) pro2(I) chains. There are 100 mutations known in these genes with
partial deletions and duplications.

Tamoxifen prevents cancer by 50% in those with >1 family member with breast cancer.+

For asystole and other

arrhythmias in this chapter,
remember the Hs and Ts:
Hypoxia
Hyper/Hypokalemia
Hypothermia
Hypoglycemia
Hypovolemia
Trauma
Toxins (including overdose)
Tamponade
Tension pneumothorax
Thrombosis (coronary and
pulmonary)

Note
Atropine is no longer indicated
in asystole.
Note
Transcutaneous pacemaker is
not useful for asystole.

Medications that prolong QT

interval
TCAs
Antipsychotics
Erythromicin
Methadone
Fluoroquinolones
Amiodarone
Quinidine
Sotolol
Flecainide
Procainamide
Causes of prolonged QT and
Torsade
Mg
K
Ca

Management of VT without
hemodynamic instability
1. Amiodarone
2. Lidocaine
3. Cardioversion
Note
For systolic dysfunction, the
only antiarrhythmics that
are safe are amiodarone,
lidocaine, and dofetilide.

[6:21:31 AM] Usmle 2017: A 7 year old child with history of sickle cell disease presented to the ER
with widespread petichial rash over the lower limbs and trunk and high grade fever. OE: the child
was stuporous and had yellow sclera

Labs showed:
WBC 12000 / cubic mm
RBC 5 million / cubic mm
Hb 7 g/dl
Blood film showed microcytosis, hypochromia, and fragmented RBCs
Platelets 25000 / cubic mm
BUN 55 mg/dl and creatinine 1.6 mg/dl
Urine positive for hemoglobin and protein 3+

What is the most likely diagnosis?

a- DIC
b- HUS
c- HSP
e- Meningococcemia
f- Parvovirus B19 infection
[6:58:29 AM] yasirmsd: B

CI formula is :- mean +/- Z*SD/square root of n

95% CI = approx. 2
250 +/- 2* 20/ square root of 100
250+/- 2*20/10
250 +/- 4
246-254

the pt is at 1 SD
1 SD is at the 34% mark

yeah its c. 50 +34 is 84

Chlorpheniramine is a specific H 1 antihistaminic receptor

blocker that
reduces the action of histamine on H1 receptors, decreasing
the allergic response. In
addition to blocking H1 histamine receptors,
chlorpheniramine exhibits anti-inflammatory
effects by blocking histamine release from mast cells and
limiting the secretory response
to inflammatory cytokines.