Genetic Disorders
13 Threads
What is the diagnosis in this baby girl who was delivered at 30 weeks' gestation? Congenital cytomegalovirus infection Ecthyma gangrenosum Homozygous protein C deficiency Kl...
Diagnosing skeletal dysplasias by XR is challenging given the large number of dysplasias (>400) and their rarity. How comfortable do you feel dx them? Letโs improve together by rev...
A couple days ago during our class in medicine ward, i saw a tachypneac girl on a wheelchair with nasal cannula, who was being taken to radiology for scan. my heart broke seeing he...
Hello #NephTwitter #Renal #MedTwitter @aspneph radiology webinar for august was Autosomal Recessive Polycystic Kidney Disease (#ARPKD). Let's get started #PedNeph #Transplant https...
SICKLE CELL ANEMIA Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all pa...
1/๐ขHello #medtwitter This November's @ASPNeph Renal Pathology webinar was on โก๏ธFibronectin glomerulopathy (FNG)โก๏ธ Here are some interesting points I learned! #medtweetorial #Nep...
Mutations in the CASK gene on X chromosome cause FG #syndrome-4 and intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia.
Let us do a short tweetorial on inherited hypermanganesemia today! Itโs important because it is underrecognised, and the only metal deposition disorder other than Wilsonโs disease...
Weekend Digest Name the disease! 5 Infectious Disease Clues #Aspergillus fumigatus #Burkholderia cepacia #Nocardia asteroides #Serratia marsescens #Staphylococcus aureus http...
๐๏ธWaardenburg #syndrome is a rare genetic condition that affects the color of a personโs skin, hair, and eyes. It can also cause hearing loss. ๐๏ธThere are four main types of Waard...
#HematologyTweetstory 33: hemoglobin variants, often said to be the most common single-gene genetic disorders in humans. โDisordersโ is not entirely accurate, as many variants are...
Kidney epithelial cells are highly polarized with vectorial transport of ions, proteins, & molecules across apical and basolateral membranes via various channels. What happens if o...
Happy to present a new article from our lab, which describes our first results looking at AASS as a target for substrate reduction #therapy in glutaric aciduria type 1 (#GA1). http...
