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+ Epilepsy/Hyperrreflexia/Truncal 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

@dr_amulya8381

Жыл бұрын

Superb! Tnq so much doc♥️🎉

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!

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

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 ❤️🙈

@Aafaq57

Жыл бұрын

Can you please share the flashcards ?

@chair9465

2 ай бұрын

Hi Anna! Your story resonates with me so well. How did you do in your exam?

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

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

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

Outstanding presentation

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.

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

@hyguruprep

Жыл бұрын

Beth!! You got this!! Super excited for you- go get it! You’re gonna do amazing

Thank you Doctor

You are great

Yes

I thought the aminoglycosides little "song" was pretty catchy and I decided to give it a try....... 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 😂❤

@Be1smaht

2 жыл бұрын

Gnat the bug

@Be1smaht

2 жыл бұрын

Aminoglycosides are gnats

Awesome sir ♥️👌

@hyguruprep

Жыл бұрын

Thanks ✌️I'm so glad you enjoyed it!!

you are genius

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

@mohammedamad386

2 жыл бұрын

You will pass everyone has their own season, just keep praying and believe you will receive

@allisonbenjamin2832

2 жыл бұрын

I used some Kaplan, and took some much time in my online classes still my step 1 result came back failed

@angelarodri1421

2 жыл бұрын

It's my first time I'm scared, I don't wanna fail

@tianahill4528

2 жыл бұрын

Wow Mrs Catherina Moore has really made name for herself

@aliotojennifer1145

2 жыл бұрын

She is the best person you can work with dear,Mrs Catherina Moore Always keep to her Words

Do you have a genetic version of usmle step 1

Where can I find biochemistry review videos?

@hyguruprep

2 жыл бұрын

Hi they are in my P/F course!! :) hyguru.teachable.com/p/usmle-step-1-pass-fail-course

Yes