USMLE Step 1: Metabolic and Genetic Syndromes

0:00 Session Entry Period
5:10 Introduction
6:32 Biochemical Pathways and Metabolism Course Breakdown
10:52 Overview of Metabolic and Genetic Syndromes
14:11 Recognizing Syndromes on the USMLE
17:55 Highest Yield Syndromes
19:22 Down's Syndrome
33:39 Patau Syndrome
35:16 Edwards Syndrome
37:14 Disorders of Imprinting
39:13 Prader Willi Syndrome
40:30 Angelman's Syndrome
54:00 Marfan's Syndrome
56:18 Ehler's Danlos Syndrome
1:00:07 Lesch Nyhan Syndrome
1:03:06 Kartagner Syndrome
1:05:28 Cystic Fibrosis
1:14:10 MC Cune Albright Sydrome
1:16:59 Lupus/SLE

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ABOUT ME
I am a pediatric critical care fellow passionate about inspiring the next generation of medical students. My goal is to deliver an active-recall based, engaging high-yield review so you rock your USMLE! I would love to connect with each and every one of you so definitely reach out!

#USMLE #USMLESTEP1 #MEDNOTES #BIOCHEMISTRY #BIOCHEMICALPATHWAYS #GENETICSYNDROMES #METABOLICSYNDROMES

[soheneebanerjee]

I'm 26 min into this video and all I keep thinking is "wow this guy is amazing." Thank you for your love, passion, and teachings. Words can't express how thankful I feel right now!

[danieldonascimentoaraujo]

HY Points

-Flat Nasal Bridge, Prminent Epicanthal Folds, Low Set Ears, Speckled Irirs ("Brushfueld Spots"),
Single Palmar Crease, wide gap between firt & Second toes --> Down's Syndrome
-Down's Syndrome children + Atrioventicular Valve Regurgitation on Echo --> Endocardial Cushion Defects
-Down's Syndrome Newborn + has NOT passed stool since birth & Has Abdominal distension --> Hirschsprung'S
(Failure of Migration of the Auerbach "Myenteric" Plexus - Neural Crest Cells)
-Cystic Fibrosis Newborn + has NOT passed stool since birth --> "Meconium Ileus"
-Bilious Emesis + "Double-bubble" Sign--> Duodenal Atresia (Failure of the Endodermal gut-Tube to Recanalize)
-Down's Syndrome children + Bilious Emesis caused by External Gut-tube Compression --> Annular Pancreas
[Annular Pancreas --> Failure of the Dorsal and Ventral bud of Pancreas to Fuse]
-Atrioventricular Septal Defect (Endocardial Cushion defect), Ostium Primum ASD & VSD --> Down Syndrome
-Duodenal Atresia, Annular Pancreas, and Hirhchsprung's Disease --> Down syndrome
-Hypothyroidism and T1DM --> Down syndrome
-Down syndrome --> Airway Hypotonia --> Obstructive Sleep Apena --> Pulmonary HTN & RV failure
-Down syndrome is assoacited with Muscle Hypotonia and AtlatoAxial Instability
-Down syndrome Cancer --> Acute Megakaryoblastic Leukemia (AML) & ALL
-Genetic Inheritance Pattern of Down Syndrome ? --> Meiotic Non-disjunction
-Trisomy 13 + Microcephaly/Cleft Palate/Microphthalmia + Rocker Bottom Feet--> Patau Syndrome
+ Omphalocele + VSD/PDA
-Trisomy 18 + Micrognathia/Low Set Ears + Rocker Bottom Feet --> Edwards Syndrome
Clenched Fists with Overlapping Fingers + VSD/ASD/ToF
-S-Adenosyl-Methionine (SAM) [Methyltransferase Enzyme]--> causes DNA Methylation -> "Mute DNA" --> Imprinting
-Prader-Willi Syndrome --> Paternal Gene Deleted + Maternal gene Imprinted (Silenced)
-AngelMan's Syndrome --> Maternal Gene Deleted + Paternal gene Imprinted (Silenced)
-Almond-sjaped Eyes + Thin Upper Lip + Short Stature(GH deficiency )+ Obesity + Hypotonia --> Prader Willi
-Thin Upper Lip --> Also related to Fetal Alcohol Syndrome
-Microcephaly + Intellectal disability & Laughing+ Hypotonia --> AngelMan's
-Marfan's Syndrome, Homocystinuria, Klynefelter's, MEN2B --> Marfanoid Habitus
-Klynefelter's Syndrome --> HyperGonadotropic Hypogonadism
-Ectopia Lentis (SuperoTemporal direction)/Cataracts + Hyperextensive Skin + Joint Hypermobility + Winged Scapula
+ MVP/Aortic Root Abnormalities 2/2 "Cystic Medial Degeneration" + SAH 2/2 Berry Aneurysms --> MARFAN'S Syndrome
-Long Thoracic Nerve (Medial Winging of the Scapula) Injury --> "Winged Scapula"
-Ectopia Lentis (inferior or nasal direction) + HyperCoagulable State --> Homocystinuria
-COLA--> Type V collagen / COL3A1--> Type III Procollagen Mutation ---> Ehlers Danlos Syndrome
+ Retinal detachment + MVP + Easy bruising/Poor wound healing + Hernia (GI tract)
-"Purine Salvage Pathway" is Essential in Creating Nucleotides from degradation of DNA & RNA
-HGPRT deficiency --> ↑PRPP ↑Guanine/Hypoxanthine/Uric Acid --> Lesh-Nyhan Syndrome
[Elevated amounts of Uric ACid --> Striatal Dopaminergic Damage --> Self-Injurious Behavior]
-HyperUricemia -->Urate Crystal in urine ("Rhomboid Shape" Crystals with Precipitate in ↓pH)
-Uric Acid Kidney Stones --> RadioLucent on X-ray --> Txt Urine Alkalinization
-Normal 9 + 2 Microtubles (ATPase)
-Dynein Arm Defect (Primary cilliary Dyskinesis) --> immotile cilia --> Poor Epithelia --> Kartagener Syndrome
--> Bronchiectasis/Sinusitis + Displaced Heart Sound (Dextrocardia) + infertility
-Mutated CFTR gene (ΔF508) on Chrm 7 --> Misfolded ATP-gated Chloride Channel -> Cystic Fibrosis (CF)
-CF patient has an Abnormal DEXA Scan test, What is the likely mechanism ?
--> Poor Vitamin D Metabolism --> Osteopenia & Osteomalacia
-Normal Sweat Glands reabsorb cL & Exocrine glands Secrete cL (to thin secretion)
-Staph Aureus--> Gram (+) Cocci Clusters, Catalase + & Coagulase (+) in infancy/childhood--> Pneumonia in Cystic Fibrosis Patients
-Pseudomonas Aerug--> Gram (-) Bacillus, Oxidase(+) in Adults --> Pneumonia in CF patients
-Burkholderia Cepasia --> Necrotizing Pneumonia and Sepsis in CF Patients
-Nasal Polyps, Bronchiectasis/Pneumonia, Obstructive Lung Disease, Hemoptysis
+ digital clubbing + Obstructive Azoospermia (Vas deferens absent) Infertility
+ Meconium Ileus (Newborn) + distal Intestinal Obstruction (Adults) --> Cystic Fibrosis
-Precocious Puberty + "Cafe-Au-Lait"Spots + bone tumors --> McCune Albright Syndrome (Gs-Protein Activating Mutation --> ↑cAMP)
[Polyostotic Fibrous Dysplasia + Prec Puberty/Cushing Syndrome]
-HLA-DR2 & HLA-DR3 subtypes--> Associated with SLE
-BM Deposits of Antigen-Antibody IC (Type III HSR) + Spike & Dome appearance on EM + Nephrotic Syndrome --> Membranous Nephropathy
-Wire-Looping of Capillaries + Nephritic Syndrome --> DPGN
-"Crescents made up of Fibrin & Macrophages" on Renal Biopsy --> RPGN

[CVinMD]

I wish I would have found this guy at the beginning of med school. I could have implemented his course into my studies and step study would have been cake.

[anna.banana]

You are such a blessing. I’m an IMG working full time in a rural hospital based ER, listening to these to and from work, while cooking and screenshooting all high yield charts and using them as flash cards is super helpful for me. I really hope I do well on the exam ❤️🙈

[stoogettes]

watching this the morning of my step 1 exam... you are the best!

[nicholastamanini]

I love this account. I'm so so grateful I found you!!

[MsSmiley]

You are saving my life. Thank you so much 🙏🏾

[shashankbassi]

Your videos are really helping me….
Thank you Dr.Damania….

[Sussan_ramirez]

Wao! Amazing lecture 💪🏽💪🏽 Super helpful. Thanks!

[Bbita]

I thought the aminoglycosides little "song" was pretty catchy and I decided to give it a It only took me 23 recordings of myself to get it right, singing "So what are your aminoglycosides? Gentamicin, Neomycin, Amikacin, Tobramycin" 😂 goodness, recording one self its not easy, hats off to you and all youtubers. Anyway, Thank you Dr. Damania I will never forget the Aminoglycosides now 😂❤

[johannaguzman-ny]

A newborn cholesterol with TS that has not passed stools can't it be duodenal atresia ? Help me clarify this thanks

[De-Zay]

The USMLE test is really frustrating, I can't believe I failed again after studying so much🥺🥺😓😭😭

[bimpala]

Do you have a genetic version of usmle step 1

[prakritilamichhane]

Where can I find biochemistry review videos?