USMLE Step 1: Metabolic and Genetic Syndromes

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  • Опубликовано: 26 дек 2024

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  • @soheneebanerjee571
    @soheneebanerjee571 10 месяцев назад +1

    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!

  • @anna.banana
    @anna.banana 3 года назад +16

    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
      @Aafaq57 Год назад

      Can you please share the flashcards ?

    • @chair9465
      @chair9465 7 месяцев назад +1

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

  • @danieldonascimentoaraujo3221
    @danieldonascimentoaraujo3221 3 года назад +40

    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

  • @CVinMD
    @CVinMD 9 месяцев назад +2

    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.

  • @3stoogettes
    @3stoogettes Год назад +1

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

    • @hyguruprep
      @hyguruprep  Год назад +1

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

  • @nicholastamanini9887
    @nicholastamanini9887 Год назад

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

  • @johannaguzman-n2y
    @johannaguzman-n2y Месяц назад

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

  • @MsSmiley1123
    @MsSmiley1123 Год назад

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

  • @shashankbassi847
    @shashankbassi847 3 года назад

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

  • @Sussan_ramirez
    @Sussan_ramirez 2 года назад

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

  • @B3bita1215
    @B3bita1215 3 года назад +1

    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
      @Be1smaht 3 года назад

      Gnat the bug

    • @Be1smaht
      @Be1smaht 3 года назад

      Aminoglycosides are gnats

  • @Sam_1964
    @Sam_1964 3 года назад

    Outstanding presentation

  • @bimpala6797
    @bimpala6797 Год назад

    Do you have a genetic version of usmle step 1

  • @170-sananthakrishnan2
    @170-sananthakrishnan2 Год назад

    Thank you Doctor

  • @De-Zay
    @De-Zay 3 года назад +13

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

    • @mohammedamad386
      @mohammedamad386 3 года назад +3

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

    • @allisonbenjamin2832
      @allisonbenjamin2832 3 года назад

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

    • @angelarodri1421
      @angelarodri1421 3 года назад

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

    • @tianahill4528
      @tianahill4528 3 года назад

      Wow Mrs Catherina Moore has really made name for herself

    • @aliotojennifer1145
      @aliotojennifer1145 3 года назад

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

  • @prakritilamichhane139
    @prakritilamichhane139 2 года назад +1

    Where can I find biochemistry review videos?

    • @hyguruprep
      @hyguruprep  2 года назад

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

  • @IsmbbailBb89
    @IsmbbailBb89 Год назад +1

    you are genius

  • @dr_amulya8381
    @dr_amulya8381 2 года назад

    Awesome sir ♥️👌

    • @hyguruprep
      @hyguruprep  2 года назад

      Thanks ✌️I'm so glad you enjoyed it!!

  • @shahrukhhanif7074
    @shahrukhhanif7074 2 года назад

    Yes

  • @shahrukhhanif7074
    @shahrukhhanif7074 2 года назад

    You are great

  • @hibafawad5060
    @hibafawad5060 Год назад

    Yes