📌Phenylketonuria

🛑 YouTube 👇
https://youtu.be/qObJYKSTnHM?si=i-NyY0eBKYMwZKZK

📌 Varying degrees of clinical severity :
🔘Fetal growth restrictions
🔘 Microcepahaly
🔘 Intellectual disability
🔘 Congenital hart defects
🔘 Seizures
🔘 Hipopigmented skin
🔘 Eczema
🔘 Musty body odor

✅ Ko'ramiz va share qilamiz

📌Bemorning boshi MRT qilindi, unda SFENOIDIT aniqlandi.

Ko'pincha burun-tomoq kasalliklaridan keyin kuzatiladigan burun atrofidagi bo'shliqlar yallig’lanadi. Gaymorit, frontit va mana bu bemorga o'xshab sfenoiditga sabab bo'ladi.

Gaymorit bo'lganlardan so'ranglar og'riq qanday bo'lishini aytadi, a buni og'rig'i bundan battar...

@firstaidstep1

📌 Maple syrup urine disease | Alkaptonuria

🔘 Vomiting
🔘 Poor feeding
🔘 Burnt sugar
🔘 Neurology signs
🔅🔅🔅🔅🔅🔅🔅🔅🔅🔅🔅
🔘 Bluish-black connective tissue
🔘 Bluish black ear cartilage
🔘 Ochronosis
🔘 Arthralgia

Ko'ramiz va share qilamiz ➡️

🛑YouTube 👇
https://youtube.com/watch?v=53MZhu0zm7M&si=hkVTlvXnUSP8FvZ9

📌Son suyagi boshchasi artrozi yoki son suyak boshchasi osteoartridi ham deb ataladi.

🔘 Bog'im sohasida og'riq, bu oyoqning pastki sohasiga ham berishi mumkin.
🔘 Qattiqlik
🔘 Cheklangan harakat(yurishda, yugirishda, egilishda, kundalik ishlarni bajarishda qiyinchilik)

❗️Erta aniqlash uchun MRT tekshiruvi zarur.

@firstaidstep1

📌 Son suyagi boshchasi MRT osteonekroz




Og'riqlar belgacha boradi.

@firstaidstep1

📌 HOMOCYSTINURIA

🔺HOMOCYstinuria
🔘 Homocystinuria
🔘 Osteoporosis
🔘 Marfanoid habitus
🔘 Ocular changes
🔘 Cardiovascular effects
🔘 kYphosis

🔻Other effects:
🔘 Intellectual disability
🔘 Hipopigmented skin

🛑YouTube 👇
https://www.youtube.com/embed/1GDWb5kP-o8

📌 Bo'yin sohasi MRT.

Bemorda "мощный" disk grijasi bor.

Bo'yindagi grija, beldagi grijadan ko'ra xavfli. Sababi bo'yin umurtqalaridan orqa miya o'tgan. Operatsiyasi ham bir muncha qiyin.

@firstaidstep1

📌Bel sohasi MRT

2003-yil qiz belida 6.0 mm grija. Yana bechorada belida qiyshayish ham bor.

Ko'p o'tirib ishlar ekan, og'ir yuk ko'tarmagan. Grija faqat og'ir yukdan keyin chiqib qolmaydi.

Lecheniya qilgandan keyin ham asrab-avaylamasa o'zini foydasi bo'lmay qoladi. ❗️❗️❗️❗️


@firstaidstep1

📌 Cystinuria and Organic acidemias

🔘 Cystine stones(hexagonal)
🔘 Propionic acidemia
🔘 Methilmalonic acidemia
🔘 Other clinical symptoms



🛑YouTube 👇
https://youtu.be/yOxFQ1TDmmQ?si=d74HYUyWPx5WnK2d


@firstaidstep1

📌 Glycogen metabolism by hormones and enzymes

#biochemistry

🔘 Metabolism in the liver
🔘 Metabolism in the muscle




🛑 YouTube 👇
https://youtu.be/vqThtIuzMVI?si=ZXjFhtartOcIv1Nc

@firstaidstep1

📌 Glycogen storage disease Part 1

#biochemistry

🔘 Periodic acid Schiff stain
🔘 Von Gierke disease(type 1)
🔰 Lactic acidosis
🔰 Hyperlipidemia
🔰 Hepatomegaly
🔰 Renomegaly


🛑 YouTube 👇
https://youtu.be/u35_kVELqf0?si=2COW7SZiZopU6mJw



@firstaidstep1

📌Glycogen storage diseases Part 2
#biochemistry

🔰 Cori
🔰 Anderson
🔰 Pompe
🔰 McArdle

🔘 Cardiomyopathy
🔘 Hypotonia
🔘 Exercise intolerance
🔘 Enlarged tongue
🔘Myoglobinuria(red urine)
🔘 Second wind phenomenon

#jonsharipov

🛑YouTube 👇
https://youtu.be/vHOmQeJw8RU?si=Uant_Knvra3RQ6Pj

📌 Lysosomal storage diseases

#biochemistry

🔰 Tay-Sachs
🔰 Fabry
🔰 Metachromatic leukodysrophy
🔰 Krabbe disease
🔰 Niemann Pick
🔰 Gaucher

🔘 Progressive neurodegeration
🔘 Developmental delay
🔘 Hiperreflexia or hiporeflexia
🔘 Cherry red spot on macula
🔘 Onion skin
🔘 Angiokeratomas
🔘 Hypohidrosis
🔘 Dementia
🔘 CN II atrophy
🔘 Hepatosplenomegaly
🔘 Osteoporosis
🔘 Bone crises
🔘 Necrosis
🔘 Other tissue cells damage

🛑 YouTube 👇
https://youtu.be/9v7bvGa5WB4?si=l6qNeo7RtWQlPB3S


@firstaidstep1

📌Fatty acid metabolism | Yog' kislota metabolizmi

Synthesis and Degradation

🔰 Citrate shuttle
🔰 Carnitine shuttle

🔘 Systemic 1° carnitine deficiency
🔘 Medium-chain Acyl-CoA dehydrogenase deficiency

🗣Steptaker: #jonsharipov

🛑YouTube 👇
https://www.youtube.com/embed/WIlFGpLTRjo

📌 Ketone bodies | Keton tanachalari
#biochemistry

〽️ Aceton
〽️ Acetoacetat
〽️ ɓ-hydroxybutyrate

🔘 Prolonged starvation
🔘 Diabetic ketoacidosis
🔘 Chronic alcohol ovurse
🔘 Fruty odor

🗣 #jon_sharipov

🛑 YouTube 👇
https://youtu.be/Rt0I_JYgS7s?si=dBM0Uov9MlsegEWE

📌 BILIRUBIN METABOLIZMI
#biochemistry

🔘 Grigler Najjar syndromes
🔘 Gilbert syndrome
🔘 Low levels of conjugation enzymes in newborn
🔘 Hepatic damage
🔘 Dubin Johnson syndrome
🔘 Rotor syndrome
🔘 Kernicterus

🗣 #jon_sharipov

@firstaidstep1

📌Bemor Bel-dumg'aza sohasini MRT qildirdi.

O'tgan yili belidagi og'riq, qotib qolishlar va oyoq sohasidagi kuchli og'riqlarga shikoyat qilib vrachga borgan. Vrach MRT tekshiruvini buyurgan, lekin belida kichkina protruziyadan tashqari tayinli o'zgarish chiqmagan. Shu narsa uchun lecheniya olgan lekin samara bermagan.

Bu yil xuddi shu shikoyatlari kuchayib menga murojiat qilgani uchun. Man ham tomografiya buyurdim, lekin o'sha holat.

So'rab surishtirish vaqtida bemor tomoq og'rig'idan va ko'p angina bo'lishidan shikoyat qildi. Kasbini so'radim, kalapocha pishiradigan joyda kalapocha tozalagan har kuni va uyi mol boqiladigan ferma oldida joylashgan.

Brutsilyoz va revmatizmdan shubha qildim undagi klinikani ko'rib va shular uchun qon topshirishini tayinladik va ikkala holatda ham rezultat musbat chiqdi. Davoladik va bemor hozir ahvolidan rozi.

Og'riqsiz yashash mazzada😁👍
#jon_sharipov

@firstaidstep1

📌Fasting and Fed state | Ochlik va To'qlik holati
#biochemistry

🔘Metabolic fuel use
🔘 Insulin affects
🔘 Glucagon/epinephrine affects
🔘 Starvation

🗣#jon_sharipov
@firstaidstep1

🛑 YouTube 👇
https://youtube.com/watch?v=IYCrqufeFlM&si=K2lH0gMq0G3WdJDx

📌 Lipoprotein metabolism Part 1

#biochemistry

🗣#jon_sharipov

🛑 YouTube 👇
https://youtu.be/tnFWTnBHROM?si=cmwAtnRnDhwewiy3