StudyRare 🧬 @studyrare Twitter profile | Pikagi

Pikagi

StudyRare 🧬

@studyrare

3,820

Followers

905

Following

517

Media

1,515

Statuses

Board prep 4 @GeneticCouns students & @TheABMGG fellows. Led by clinical geneticist @dpique12 Monthly 📧 w/ board-style q's at

https://t.co/r7TJ7GJZRW

Joined December 2019

Don't wanna be here? Send us removal request.

Pinned Tweet

@studyrare

StudyRare 🧬

1 month

📢 I am excited to announce the 30-hour ABGC Board Review Bootcamp from Thu June 13 - Thu July 25 for those taking the exam in Aug 2024! We will cover 400+ high-yield concepts across all 5 domains from the new ABGC content outline. 1 scholarship also available. Sign up👇 #GeneChat

Tweet media one

0

12

39

Last Seen Profiles

@RealMattLucas

@CPC_Westmead

@themmpress

@The_Only_Signal

@SGT_in_Recovery

@CoachGeorge5

@ElMiyashiro

@momo__xxx621

@SpeidelStefanie

@EruruFm

@EOEC_TDSB

@IxBasket

@ZUqgv1UnrhMlxHy

@info_seoyeon

@IJim4rZGJktGMVl

@MIT_Quest

@Wuertz_Lab

@AkhiAfterwork

@VattikutiRobotx

@AndyKnightVT

@NastyNati740

@LyZyzyhy48426

@avalyrianlord

@lwspellsongs

@rhipxx_

@insideafantasyy

@mahoxinjnp77251

@OfforCPaul1

@Zrn_8a

@MariekevdKruijs

@Kano__photo

@darrylvalc

@AugieC72

@amberkatherine_

@7IRIYPdwgX01a8b

@BandarStw

@studyrare

StudyRare 🧬

8 months

A 1-month-old boy 👶 born @ term presents for an evaluation. Weight & height are > 95th %ile. Phys exam reveals a large tongue, umbilical hernia, & bilateral earlobe creases. His right leg is longer than his left. He was conceived via IVF. What's the diagnosis? #GeneChat

Tweet media one

57

120

817

@studyrare

StudyRare 🧬

10 months

A 6 yo girl p/w global dev delay & seizures. Phys exam shows a single central maxillary incisor & hypotelorism. Brain MRI: frontal lobe fusion & absence of anterior falx cerebri. Her dad also has 1 central maxillary incisor. She most likely has a variant in which gene? #GeneChat

Tweet media one

20

49

411

@studyrare

StudyRare 🧬

9 months

A 16 yo girl presents w/ intermittent swelling of her feet x 2 years🦶. She performs well in a regular classroom. Urinalysis shows hematuria & proteinuria. A renal US shows renal hypoplasia. Dilated eye exam shows coloboma of both optic discs👁️. What's the diagnosis? #GeneChat

Tweet media one

7

58

387

@studyrare

StudyRare 🧬

4 months

A 32-year-old man presents for his annual physical exam. He shares that his 3-year-old son was recently diagnosed with a tumor of his optic nerve. The man has brown freckles around his iris👁️ and multiple brown patches on his skin. What’s the diagnosis? #GeneChat

Tweet media one

40

53

300

@studyrare

StudyRare 🧬

9 months

An 8 yo boy w/ intellectual disability & hypothyroidism presents for an evaluation. Phys exam shows short stature, epicanthal folds, & a gap between the 1st & 2nd toes🦶. He has small, white spots around his irises👁️. A karyotype is pending. What's the diagnosis? #GeneChat

Tweet media one

26

42

288

@studyrare

StudyRare 🧬

11 months

Here's a tip for remembering the eponyms associated with the different mucopolysaccharidoses (roman numerals I-IV): MPS I is "Hur1er" (Hurler) MPS II (Two) is "Hun-Two-er" (Hunter) MPS III is "SanfIIIppo" (Sanfilippo) MPS IV is MorQUio (QUad = 4) #GeneChat #MPS

Tweet media one

0

101

253

@studyrare

StudyRare 🧬

8 months

A 35 yo man presents to the ED w/ chest pain. A chest XR shows pneumothorax w/ multiple subpleural cysts 🫁. He has multiple dome-shaped papules on his face. A skin biopsy shows fibrofolliculomas. His dad had renal cancer @ age 40. What's the diagnosis? #GeneChat #DermTwitter

Tweet media one

18

47

223

@studyrare

StudyRare 🧬

11 months

A 15 yo girl w/ major depression p/w "difficulty speaking" x6 months. Phys exam reveals dysarthria, resting tremor, & dark rings that encircle the irises. Labs show ↓ serum ceruloplasmin levels. Brain MRI shows basal ganglia signal abnormalities. What’s the diagnosis? #GeneChat

Tweet media one

21

30

191

@studyrare

StudyRare 🧬

1 year

7 y girl w/ a hx of recurrent pneumonia p/w frequent falls over the past year. Phys exam shows a wide-based gait & red vascular lesions on conjunctiva & ear. Labs show ⬇ B & T cells & ⬇ immunoglobulins. MRI shows cerebellar atrophy. What's the diagnosis? #GeneChat #MedTwitter

Tweet media one

20

29

170

@studyrare

StudyRare 🧬

1 year

A 5yo girl is referred to endocrinology for menstrual bleeding. Phys exam shows a large hyperpigmented patch on the L neck & shoulder, Tanner II breasts, & a bowed left leg. Labs show ↑ serum estradiol. Leg XR suggests fibrous dysplasia. What's the diagnosis? #GeneChat

Tweet media one

21

31

171

@studyrare

StudyRare 🧬

1 year

A 4 y girl presents w/ recurrent infections & photophobia. Phys exam shows hepatosplenomgly, blond hair, & patchy areas of skin hypopigmentation. She has a wide-based gait. A blood smear shows large cytoplasmic granules in neutrophils. What’s the diagnosis? #GeneChat #hematology

Tweet media one

12

25

166

@studyrare

StudyRare 🧬

6 months

A 16 yo girl w/ migraines presents w/ difficulty speaking🗣️ & R arm weakness x4 hours. She had 2 similar episodes last year. Her mom also has episodic arm weakness. 🧠MRI: multiple T2 hyperintensities. Labs: ⬆️ lactate during & in-between episodes. What's the diagnosis? #GeneChat

Tweet media one

10

40

160

@studyrare

StudyRare 🧬

7 months

A 40 yo woman presents w/ balance issues & gradual memory loss x 3 years🧠. She had cataracts removed in childhood👁️. Phys exam shows an ataxic gait & thick Achilles tendons. Labs show ⬆️ bile acid alcohols in the urine. What's the diagnosis? #GeneChat

Tweet media one

9

28

157

@studyrare

StudyRare 🧬

6 months

An 11-year-old girl is referred to the genetics clinic for “albinism.” Physical exam shows a white forelock, broad nasal root, telecanthus, & blue eyes. She also has several white patches on her elbows. She has worn hearing aids since infancy👂. What’s the diagnosis? #GeneChat

Tweet media one

16

20

152

@studyrare

StudyRare 🧬

1 year

@OGdukeneurosurg For a case discussion of the pathogenesis of osteogenesis imperfecta, check out one of my posts from last month:

Tweet media one

1

22

147

@studyrare

StudyRare 🧬

8 months

A 45 yo man presents for an eval. He was in special ed in K-12th grade & now lives in a semi-supervised group home. Phys exam shows large forehead & prominent jaw. He speaks in short phrases. His sister & mother underwent menopause in their 30's. What's the diagnosis? #GeneChat

Tweet media one

16

25

124

@studyrare

StudyRare 🧬

6 months

A 37 yo man w/ muscle weakness & cataracts presents for an eval. He has trouble letting go after he shakes your hand🤝. Phys exam shows balding & temporal muscle wasting. His older sister also has muscle weakness. An EKG shows 1st degree ❤️ block. What's the diagnosis? #GeneChat

Tweet media one

17

22

108

@studyrare

StudyRare 🧬

7 months

A 36 yo woman presents w/ chronic joint pain in her knees. XR shows severe osteoarthritis. While undergoing knee replacement, her surgeon notes that her knee cartilage is black. Phys exam shows darkened ears & sclera. She has a hx of dark urine. What's the diagnosis? #GeneChat

Tweet media one

23

18

108

@studyrare

StudyRare 🧬

5 months

Genetic causes of giant platelets: “My Big, Giant Platelets” •MYH9-related disorders •Bernard-Soulier syndrome •Grey platelet syndrome •Paris-Trousseau syndrome #GeneChat

Tweet media one

0

27

103

@studyrare

StudyRare 🧬

1 year

An 8-month-old girl w/ developmental delays presents w/ new-onset seizures. Physical exam shows several lightly-colored spots on the skin. Brain MRI shows multiple nodules lining the lateral ventricles. What's the diagnosis? #GeneChat

Tweet media one

21

10

98

@studyrare

StudyRare 🧬

7 months

4 types of cardiac tumors🫀 with their associated syndromes: 1. RhabdOmyoma = tubeROus scleROsis 2. Fibroma = Gorlin syndrome (“Gourmet fiber”) 3. mYXoma = CarneY compleX 4. TeraToma = multiple Tissue Types (no associated syndrome) #GeneChat

Tweet media one

0

23

97

@studyrare

StudyRare 🧬

1 year

🧵Almost all metabolic disorders are inherited in an autosomal recessive manner. Here are six X-linked eXceptions to know for boards: 1️⃣Lesch-Nyhan 2️⃣Ornithine transcarbamylase deficiency 3️⃣Adrenoleukodystrophy 4️⃣Fabry 5️⃣Menkes 6️⃣Hunter (MPS II) #GeneChat

Tweet media one

4

26

97

@studyrare

StudyRare 🧬

1 year

A 5-year-old girl presents to the clinic for an evaluation. Phys exam shows moderate short stature, an open anterior fontanelle, and dental crowding. She can touch her shoulders together in the front. A follow-up X-ray shows absent clavicles. What's the diagnosis? #GeneChat

Tweet media one

15

12

84

@studyrare

StudyRare 🧬

7 months

A 3 yo girl w/ developmental delays, short stature, & sun sensitivity☀️ presents for an eval. Phys exam shows sparse, brittle scalp hair. Analysis of the hair shaft🔬 shows a “tiger tail” banding pattern🐅. Serum copper & ceruloplasmin are normal. What’s the diagnosis? #GeneChat

Tweet media one

9

15

83

@studyrare

StudyRare 🧬

1 month

A 30-minute-old term newborn presents w/ respiratory distress. Phys exam shows subcostal retractions, an asymmetric cry, & a high-arched palate. Labs show calcium of 7.3 (low). Echo shows a VSD & thick R ventricle. His mom was born w/ cleft palate. What’s the diagnosis? #GeneChat

Tweet media one

12

18

85

@studyrare

StudyRare 🧬

1 year

A 2 y boy presents for an evalt'n. Phys exam shows acrocephaly, midface retrusion, unilat cleft palate, & bilat syndactyly w/ fusion of the nails of the middle digits. Head CT shows multi-suture synostosis & mild ventriculomegaly. What's the diagnosis? #GeneChat #neurosurgery

Tweet media one

10

12

81

@studyrare

StudyRare 🧬

1 year

🧵Do you dread interpreting plasma amino acid (PAA) profiles?😨 If so, it’s no wonder. There’s more than 20 values to look through, & rarely is everything “normal.” Use this 4-step approach to expertly navigate the PAA profile (& never miss an obvious diagnosis) 🔎🧐 #GeneChat

Tweet media one

8

25

81

@studyrare

StudyRare 🧬

2 months

A 61-year-old woman presents for a routine physical exam. Height is 4’10”. Physical exam shows low-set ears, ptosis, & a broad neck. She underwent menopause at age 52 & has two adult sons who are healthy. A karyotype shows 46,XX. What’s the diagnosis?

Tweet media one

15

11

80

@studyrare

StudyRare 🧬

5 months

For Meckel-Grüber syndrome, think about a severely affected newborn with "MECKEL": > Microcephaly > Encephalocele (occipital) > Cystic Kidneys > Extra "Little digit" (postaxial polydactyly) * little digit = pinky #GeneChat

Tweet media one

0

16

74

@studyrare

StudyRare 🧬

6 months

A 64 yo M w/ osteoarthritis, erectile dysfunction, & diabetes presents w/ shortness of breath. His skin has tanned despite no sun exposure. Labs show ⬆️AST & ALT, ⬆️serum ferritin, & ⬆️transferrin saturation. An echo shows dilated cardiomyopathy. What's the diagnosis? #GeneChat

Tweet media one

13

9

73

@studyrare

StudyRare 🧬

1 year

A 5-year-old boy presents w/ short stature, obesity, & renal failure. His parents are concerned about his vision. Physical exam reveals 6 fingers on each hand and nystagmus. Fundoscopy shows pigmentary changes in the retina. What's the diagnosis? #GeneChat #ophthalmology

Tweet media one

12

15

70

@studyrare

StudyRare 🧬

10 months

Most students feel that memorizing the Krebs cycle 🔄 is at best a dreaded chore 😐. However, few realize that human diseases result from deficiency of 7 out of the 8 Krebs cycle enzymes. 🧵Let's take a closer look at these 7 enzymes. #GeneChat #MedTwitter

Tweet media one

1

17

69

@studyrare

StudyRare 🧬

5 months

A 2-day-old boy born at term is evaluated in the nursery due to feeding difficulties. His height & weight are 4 SD below the mean. Phys exam shows microcephaly, a sloping forehead, beaked nose, & a small chin. There is no rhizomelia. What’s the diagnosis? #GeneChat

Tweet media one

6

13

70

@studyrare

StudyRare 🧬

6 months

Genetic disorders that affect the eye: An anatomical perspective 👀 #GeneChat #MedTwitter

Tweet media one

0

15

67

@studyrare

StudyRare 🧬

7 months

In the mucopolysaccharidoses (MPS), accumulated substrates affect different parts of the body. For example: 1. HEparan sulfate affects the HEad (causing CNS 🧠 symptoms). ↑ in MPS 1-3, 7. 2. KEratan sulfate affects the sKEleton 🦴. ↑ in MPS 4. #GeneChat

Tweet media one

1

15

64

@studyrare

StudyRare 🧬

1 year

An 17 y M w/ intellectual disability presents for an eval. He cannot talk or walk independently. He often bites his fingers & lips. Phys exam shows dystonia, spasticity, & tophi over several knuckles. Blood draw shows ↑ uric acid & ↑ creatinine. What's the diagnosis? #GeneChat

Tweet media one

9

15

64

@studyrare

StudyRare 🧬

10 months

A 9 yo boy presents w/ recurrent pneumonia, easy bruising, & persistent eczema. Phys exam shows petechiae & dry, scaly skin. Labs show ⬇️ platelet count & ⬇️IgM & IgA. He has an older brother & maternal uncle w/ similar symptoms. What's the diagnosis? #GeneChat #MedTwitter

Tweet media one

13

12

63

@studyrare

StudyRare 🧬

10 months

A 50 yo man p/w 2 months of cough & shortness of breath. Phys exam shows dysplastic nails & several white patches on tongue. His maternal uncle has similar nail findings & unexplained bone marrow failure. Labs show pancytopenia & short telomeres. What's the diagnosis? #GeneChat

Tweet media one

10

9

60

@studyrare

StudyRare 🧬

7 months

A 7 yo boy w/ global dev delay & short stature presents for an eval. Phys exam shows a large tongue, corneal clouding, joint contractures, & hepatosplenomegaly. Skeletal survey shows dysostosis multiplex 🩻. Labs: ↑ heparan & dermatan sulfate. What's the diagnosis? #GeneChat

Tweet media one

15

11

56

@studyrare

StudyRare 🧬

3 months

To me, caring for patients with rare diseases is about more than just making medical diagnoses. It is about building community, raising awareness, & empowering people with knowledge. Beyond grateful for the opportunity to serve this community. #RareDiseaseDay #GeneChat

Tweet media one

0

19

59

@studyrare

StudyRare 🧬

2 months

Disorders that are X-linked dominant & male lethal “CHAIN FOR CHILD”📿 CHondrodysplasia punctata (CDPX2) Aicardi syndrome INcontinentia pigmenti Focal dermal hypoplasia (Goltz syndrome) Oral-facial-digital syndrome, type I Rett syndrome CHILD syndrome #GeneChat

Tweet media one

1

16

59

@studyrare

StudyRare 🧬

11 months

A 7 y boy presents w/ generalized hypopigmentation and nystagmus. He has a hx of easy bruising. Labs show normal coags & platelet count. Platelet aggregation is abnormal. His parents are from northwest Puerto Rico🇵🇷 & are asymptomatic. What’s the diagnosis? #GeneChat #hematology

Tweet media one

10

15

58

@studyrare

StudyRare 🧬

3 months

A 21-year-old woman presents for a regular checkup. She is asymptomatic, though her husband states that she "writes funny." ✍️ While writing with her right hand, her left hand mimics the right (see 🎥). Her exam is otherwise normal. What's the diagnosis? 🪞 #GeneChat

3

12

58

@studyrare

StudyRare 🧬

4 months

A 2-hour-old boy born @ 33 weeks is admitted to the NICU. Phys exam shows a cleft lip, microcephaly, low-set ears, & postaxial polydactyly. A head US shows a single, fused forebrain🧠. His mom had a "positive test" prenatally but did not follow up. What’s the diagnosis? #GeneChat

Tweet media one

16

9

56

@studyrare

StudyRare 🧬

11 months

Miller-Dieker syndrome is caused by a terminal microdeletion at chr 17p & is associated w/ lissencephaly and epilepsy 🧠. Remember the chromosome by rotating the letter "L" in "MILLER" 180 degrees: #GeneChat

0

7

51

@studyrare

StudyRare 🧬

11 months

Why do balanced translocations carriers experience recurrent pregnancy loss? It's b/c of how chromosomes segregate in meiosis. The types of chr. segregation are: ·ALternate ("ALright"). Balanced gametes→ unaffected ·ADjacent ("bAD"). Unbalanced gametes→ miscarriage #GeneChat

Tweet media one

0

12

52

@studyrare

StudyRare 🧬

2 months

A 4 yo girl w/ global dev delay presents for an eval. She started to walk 1 month ago & has 5 words. Head circumference is +4 std dev. MRI shows bilateral ribbon-like subcortical heterotopia 🧠🎀. Variants in which gene are associated with this finding? #GeneChat

Tweet media one

3

12

51

@studyrare

StudyRare 🧬

10 months

A 17 yo boy presents w/ a lack of pubertal development & an inability to perceive smells👃. Phys exam shows Tanner stage II genitalia & pubic hair. Labs show ⬇️ FSH, LH, & testosterone. Brain MRI shows hypoplasia of the olfactory bulbs & tracts. What's the diagnosis? #GeneChat

Tweet media one

17

13

51

@studyrare

StudyRare 🧬

2 months

4 non-X-linked disorders that more commonly affect males👨 'He'mochromatosis LHON – HOmbres Brugada syndrome – Bros Hirschsprung’s disease – “His-chsprung” #GeneChat

Tweet media one

2

12

49

@studyrare

StudyRare 🧬

1 year

A 9 y old boy presents w/ autism & intellectual disability. He had a cleft palate repaired in infancy. Phys exam shows 2-3 toe syndactyly, microcephaly, and short stature. Labs show ↑ 7-dehydrocholesterol & ↓ plasma cholesterol. What's the diagnosis? #GeneChat #Pediatrics

Tweet media one

11

7

49

@studyrare

StudyRare 🧬

1 year

🧵Nowadays, many providers are ordering broad genetic tests like whole exome sequencing (WES). Yet, few have a structure to verbally convey 🗣️ the necessary information as part of informed consent. Use this 5-step approach to stay organized while consenting for WES. #GeneChat

Tweet media one

3

13

50

@studyrare

StudyRare 🧬

3 months

Diagnostic testing for Angelman starts w/ a DNA methylation test. If normal, send for UBE3A sequencing. If abnormal, send a microarray (or FISH) to look for a 15q deletion. In practice, some send DNA methylation & microarray together. Figure courtesy of @angelman #GeneChat

Tweet media one

1

13

51

@studyrare

StudyRare 🧬

1 year

The rule of 5's for Factor 5 Leiden: - 5% of population is heterozygous for Factor V Leiden - 5% chance of a clot by 65 y (heterozygotes) - 5x ⬆️ risk of DVT in heterozygotes (vs gen pop) #GeneChat #hematology

Tweet media one

1

13

46

@studyrare

StudyRare 🧬

7 months

A 28 yo man presents for an eval. He was diagnosed w/ thyroid cancer 2 years ago & has multiple relatives w/ cancer (see pedigree ⬇️). Physical exam shows a large head circumference, many facial papules, & multiple warty growths on his soles🦶. What’s the diagnosis? #GeneChat

Tweet media one

10

13

46

@studyrare

StudyRare 🧬

7 months

A 16 yo boy presents w/ an enlarging jaw mass x1 year. He also notes intermittent bloody stools. Phys exam shows a L-sided jaw mass & extra teeth. A fundoscopic exam shows multiple hyperpigmented spots, & a colonoscopy shows multiple polyps. What’s the diagnosis? #GeneChat

Tweet media one

9

13

45

@studyrare

StudyRare 🧬

11 months

A 14 yo boy p/w new-onset epilepsy x3 mo ago. Prior cognitive development was normal. Phys exam shows muscle wasting, myoclonus, & ataxia. mtDNA testing from a quadriceps muscle biopsy (see below) shows m.8344G>A @ 75% heteroplasmy. What's the diagnosis? #GeneChat #PathTwitter

Tweet media one

8

10

45

@studyrare

StudyRare 🧬

11 months

Here are 10 impt findings in Kleefstra Syndrome. K: Kardiac ❤️ defect L: Learning disability🧠 E: Ears 👂 E: EHMT1 mut / del F: Facial anomalies S: Seizures T: Tented upper lip / Tongue protrusion 👅 R: Renal anomalies A: Awakenings (nocturnal) #GeneChat #neurotwitter

Tweet media one

0

8

44

@studyrare

StudyRare 🧬

11 months

A woman at 21 weeks gestation presents for her first prenatal visit. Ultrasound shows a fetus with an occipital encephalocele (arrows in ultrasound images), polydactyly, and bilaterally enlarged and cystic kidneys. What is the most likely diagnosis? #GeneChat

Tweet media one

6

8

44

@studyrare

StudyRare 🧬

9 months

Think of Holt-Oram syndrome as "Heart + Hand syndrome🫀+✋" ① Holt has Holes in the Heart🫀 (75% w/ ASD or VSD) ②The ‘ra’ in ‘Oram’ reflects radial ray anomalies ③ThumB is ❌’d out (TBX5) (absent thumb✋*) *vs TAR syndrome, where thumb is present 👍 #GeneChat

Tweet media one

0

12

45

@studyrare

StudyRare 🧬

1 month

A 6-month-old boy presents for a routine check-up. He babbles & is starting to take solids. Phys exam shows a well-appearing infant. A pic of his external ear👂 is shown (left panel). Right panel shows a normal ear for reference. What term best describes this finding? #GeneChat

Tweet media one

3

9

45

@studyrare

StudyRare 🧬

8 months

Made it to Chicago, and excited to be attending #NSGC23 for the first time! It was great meeting folks at the Alliance for Genomic Justice social tonight. Thank you to @mixing808 for organizing. Looking forward to connecting in person over the next few days! #GeneChat

Tweet media one

2

0

43

@studyrare

StudyRare 🧬

1 year

Breast cancer predisposition genes BARD1, CHEK2 = Breast ca alone ("BARe CHEst") CDH1 = Chest & DH1gestive (i.e. gastric) ptEN = ENdometrial STK11 = STinKy cancer (colorectal) PALB2 = PAncreatic & Breast ATm = pancreATic & breAsT BRca & BRip1 = BReast ca #GeneChat #oncology

Tweet media one

5

8

44

@studyrare

StudyRare 🧬

4 months

Genetic causes of early menopause (<40 y) “Gonads Turn Off Before Forty” Galactosemia Turner (Ovarian insufficiency) BPES Fragile X POI #GeneChat

Tweet media one

0

19

45

@studyrare

StudyRare 🧬

4 months

A 4-year-old boy presents for a well-child visit. His teeth have not come in yet, & he does not sweat even when playing outside in the sun☀️. Phys exam shows a single molar tooth🦷& sparse scalp hair. He has 2 maternal uncles with similar symptoms. What's the diagnosis? #GeneChat

Tweet media one

6

6

41

@studyrare

StudyRare 🧬

10 months

A 2 yo girl p/w difficulty gaining weight x1 yr. Birth hx was nml. Phys exam shows prominent scalp veins, no scalp hair, & ⬇️ subq fat. Ht & wt are @ the 1st %ile. Electron microscopy performed on skin fibroblasts shows nuclear membrane blebbing. What's the diagnosis? #GeneChat

Tweet media one

11

8

40

@studyrare

StudyRare 🧬

4 months

A 42-year-old woman presents w/ shortness of breath & a persistent cough. She has a 10-pack-year smoking history. Pulmonary function tests are consistent w/ emphysema. Labs show ⬆️ LFTs. Phys exam shows several red, tender skin nodules on her legs. What’s the diagnosis? #GeneChat

Tweet media one

5

12

42

@studyrare

StudyRare 🧬

7 months

For cancer risks associated with DICER1 variants, remember the phrase "ROLL THe DICE"🎲 Rhabdomyosarcoma Ovarian Lung (Pleuropulmonary blastoma) THyroid DICER1 #GeneChat

Tweet media one

0

4

42

@studyrare

StudyRare 🧬

1 year

A 9 mo boy presents to his PCP w/ swelling of hands & feet. Phys exam shows conjunctival pallor & a palpable spleen. Labs show a Hgb of 7. A peripheral blood smear shows crescent-shaped RBCs. His parents had declined newborn screening. What’s the diagnosis? #GeneChat #MedTwitter

Tweet media one

17

6

39

@studyrare

StudyRare 🧬

11 months

What is Cleidocranial Dysplasia (CCD)? Let's break down the word: CLeido- = absent CLavicles -Cranial = issues w/ skull bones💀 including delayed fontanelle closure & wormian bones. To remember that RUNX2 muts cause CCD, think “RUN Cross Country” 🌲🏃‍♀️). #GeneChat #Orthopedics

Tweet media one

2

6

39

@studyrare

StudyRare 🧬

11 months

📢 I am very excited to announce the 15-hour Genetic Disorders Rapid Review Course from Mon July 17 - Wed July 26 for those taking the ABGC or ABMGG board exam in August! We will cover 250+ high-yield, commonly-tested genetic disorders. Sign up 👉:

Tweet media one

1

13

40

@studyrare

StudyRare 🧬

1 year

You've heard of gangliosidoses. But what is a *ganglioside*? "gang-" refers to "ganglia," a collection of neuronal cell bodies 🧠 "-li-" refers to "lipid" 🧈 "-side" refers to sialic acid, a sugar 🍭 A ganglioside is a sialic acid-containing lipid found in neurons. #GeneChat

Tweet media one

0

10

40

@studyrare

StudyRare 🧬

3 months

Telomeres are protective caps on chromosomes that consist of 6-base pair (TTAGGG)n repeating units. But just how long are they? Answer: On average, human "TEN-LO-meres" are ~TEN kb LOng. However, telomeres shorten with age, & length varies by cell type & chromosome #. #GeneChat

Tweet media one

0

10

39

@studyrare

StudyRare 🧬

11 months

A 29 yo F at 30 weeks gestation presents to establish prenatal care. An anatomy US shows enlarged, echogenic fetal kidneys. A follow-up fetal MRI is performed (see below). There is no family hx of kidney disease. What's the diagnosis & inheritance pattern? #GeneChat #nephrology

Tweet media one

7

2

38

@studyrare

StudyRare 🧬

5 months

Hemoglobin is like a diamond ring in a box💍. A globin "box" safeguards the ring (heme), which is composed of 2 parts: - iron (the gem💎) - protoporphyrin (the band ◯ ) #GeneChat #MedTwitter

Tweet media one

1

9

39

@studyrare

StudyRare 🧬

10 months

A 24-year-old woman presents for a follow-up visit after a spontaneous abortion at 11 weeks gestation. A karyotype on the products of conception is pending. Which of the following chromosomal anomalies is most likely to be found? #GeneChat #OBGYN

Trisomy 13

102

Trisomy 16

229

Trisomy 18

57

Trisomy 21

99

4

7

37

@studyrare

StudyRare 🧬

9 months

A 25 yo man presents w/ episodic weakness of both legs🦵 x1 year. Episodes occur ~1x/month, last for 2-3 hours, & prevent him from driving 🚗. He is otherwise healthy. Labs during a recent episode showed serum potassium of 2.4 (nml 3.5-5.5 mEq/L). What's the diagnosis? #GeneChat

Tweet media one

3

9

38

@studyrare

StudyRare 🧬

11 months

🧵Epidermolysis bullosa (EB) causes skin & mucosal blistering. "Epidermo" = skin "-lysis" = breakdown "bullosa" = blisters The 3 main types of EB are classified by the affected skin layer. From superficial ➡️ deep: 1. Simplex 2. Junctional 3. Dystrophic #GeneChat #dermatology

Tweet media one

1

10

36

@studyrare

StudyRare 🧬

11 months

The rule of 5's for Factor 5 Leiden - 5% of population is het'zygous for Factor V Leiden - 5% chance of clot by 65 y in hets - 5x ⬆️ risk of DVT in hets (vs gen pop) - If no prior hx of clot, 0.5% chance of DVT in hets w/ each pregnancy. #GeneChat #hematology #OBGYN

Tweet media one

0

6

36

@studyrare

StudyRare 🧬

7 months

What is Zolgensma? zolgen-SMA is a 1-time gene therapy for SMA (spinal muscular atrophy). #GeneChat

Tweet media one

1

6

38

@studyrare

StudyRare 🧬

6 months

An oocyte w/ nullisomy 15 is fertilized by a haploid sperm. The resulting zygote has monosomy 15 (🚫 viable). The zygote then undergoes duplication of chr15, resulting in paternal isodisomy 15. A baby who develops from this zygote is @ risk for what imprinting disorder? #GeneChat

Tweet media one

5

5

37

@studyrare

StudyRare 🧬

11 months

For Barth Syndrome, think of Bart Simpson. Bart’s spiky hair looks like cristae, the tight folds of mito membrane (MM), & reminds u that MM curvature is affected. Cardiolipin synthesis is ↓. “bARTh affects the heART.” Barth is XL (affects boys). Bart is a boy. #GeneChat

Tweet media one

0

10

36

@studyrare

StudyRare 🧬

1 year

🧵Trying to memorize all of the lab abnormalities in Glycogen storage disease type 1a (GSD 1a) is futile 🤔 Instead, use this 4-step approach 🔢 to easily derive the lab abnormalities in GSD 1a from first principles. #GeneChat

Tweet media one

1

12

37

@studyrare

StudyRare 🧬

6 months

To remember that Silver-Russell is due to maternal UPD of chromosomes 7 or 11, think of the store “7-Eleven.” •𝗦il𝘃𝗲r (𝗦e𝘃𝗲n) •Russ𝗲𝗹𝗹 (𝗲𝗹even) #GeneChat

Tweet media one

1

3

37

@studyrare

StudyRare 🧬

8 months

A 12 yo boy presents w/ behavioral concerns & ⬇ school performance x 1 year. He ignores his parents, especially when called from behind. Phys exam is normal. F/u testing shows bilateral sensorineural hearing loss👂& retinal hyperpigmentation👁️. What's the diagnosis? #GeneChat

Usher syndrome

185

Bardet-Biedl syndrome

51

Waardenburg syndrome

67

Batten disease

22

2

9

34

@studyrare

StudyRare 🧬

9 months

A 14 yo boy presents w/ progressive vision loss & difficulty hearing over the past 3 years. He was diagnosed with diabetes at age 8 y. Exam shows optic atrophy, bilateral sensorineural hearing loss, & ataxia. His IQ is 105 (average). What's the most likely diagnosis? #GeneChat

Wolfram syndrome

203

Optic atrophy 1 (OPA1)

51

Bardet-Biedl syndrome

107

Myotonic dystrophy type 1

33

5

10

35

@studyrare

StudyRare 🧬

4 months

A 29-year-old man unexpectedly passes away in his sleep. He was previously healthy. Post-mortem genetic testing shows a heterozygous loss-of-function variant in SCN5A. There is no evidence of structural heart disease or vascular disease on autopsy. What's the diagnosis? #GeneChat

Abetalipoproteinemia

17

Brugada syndrome

249

Wolff-Parkinson-White

32

Jervell and Lange-Nielsen

28

2

9

34

@studyrare

StudyRare 🧬

5 months

A 18-month-old boy presents w/ global developmental delays. He has no words & does not walk. Phys exam shows severe microcephaly (-5 std dev) & peripheral edema. Dilated eye exam shows peripheral chorioretinal atrophy. No hx of maternal infections. What’s the diagnosis? #GeneChat

Tweet media one

6

5

35

@studyrare

StudyRare 🧬

9 months

ATPases help move ions (eg Na⁺, Ca²⁺) across membranes💧 Pathogenic variants in ATPases can → seizures, dev delays🧠 ATPases are numbered according to function. Examples: 1️⃣ATP1 moves ions w/ a +1 charge (Na⁺, K⁺) 2️⃣ATP2 moves ions w/ a +2 charge (Ca²⁺) #GeneChat

Tweet media one

0

5

34

@studyrare

StudyRare 🧬

11 days

Pompe disease is a lysosomal storage disorder that weakens skeletal and cardiac muscle. Clinically, there are two forms of Pompe: infantile-onset and late-onset. How might you distinguish these two forms after a positive newborn screen? (Hint:🫀) #GeneChat

Tweet media one

2

9

35

@studyrare

StudyRare 🧬

9 months

There are 4 phases of skin findings in incontinentia pigmenti: 1. Blistering (@ birth) 🫧👶 2. Wart-like rash 3. Swirling macular hyperpigmentation 4. Linear hypopigmentation In Incontinentia PigmenTI, Pigmentary changes take TIme ⌛ to appear (🚫 present @ birth). #GeneChat

Tweet media one

0

8

32

@studyrare

StudyRare 🧬

10 months

Ellis-van Creveld syndrome is an Ectodermal & Chondral dysplasia. Genetics: AD variant in EVC A short rib-polydactyly syndr. "CREVELD" Constricted growth Ribs (short) Extra fingers (polydactyly) Valgus deformities Ectodermal dysplasia Limb shortening Dental anomalies #GeneChat

Tweet media one

@studyrare

StudyRare 🧬

10 months

A 12 yo boy p/w short stature. Height @ 1st %ile. Phys exam shows post-axial polydactyly & a bell-shaped chest. He also has sparse hair, missing teeth w/ multiple frenula, & hypoplastic nails. Family hx is non-contributory. What's the diagnosis? #GeneChat

Tweet media one

3

7

29

0

9

33

@studyrare

StudyRare 🧬

10 months

A 30 yo woman presents for an eval. Her 51 yo mom has Parkinson's disease & a heterozygous variant in SCNA (AD). By age 30 y, 80% of ppl w/ this SCNA variant have tremor. Her phys exam is unremarkable. What is the chance that she inherited this variant from her mother? #GeneChat

Tweet media one

5

8

33

@studyrare

StudyRare 🧬

3 months

Most inherited arrhythmias🫀⚡ are autosomal dominant disorders caused by variants in potassium (K+) channels. Gene symbols start with KCN (eg KCNQ1), as in “K+ Channel”. Variants in Calcium Channels (CACNA1C, RYR2) & Sodium Channels (SCN5A) can also cause arrhythmias. #GeneChat

Tweet media one

1

8

34

@studyrare

StudyRare 🧬

8 months

A 15-year-old boy presents for a well-child visit. He is in 10th grade & does well in school. Phys exam shows thin, ridged fingernails 💅 & limited elbow & knee extension. An X-ray shows absent kneecaps🦵. Labs show moderate renal insufficiency. What's the diagnosis? #GeneChat

Tweet media one

6

8

32

@studyrare

StudyRare 🧬

1 year

I use the VLCAD VeLoCirAptor🦖 to remember the sympt, dx, and tx of VLCAD: Sympt: ("vLCAD") 1. rhabdomyoLysis 2. CArdiomyopathy ❤️ 3. Dip in glucose (hypoglycemia) Dx: ↑ C14:1 on NBS (4 limbs + 1 long tail) Tx: Triheptanoin (C7) MCT oil (C8) Low-fat diet 🚫 fasting #GeneChat

Tweet media one

0

12

33

@studyrare

StudyRare 🧬

7 months

A 3 yo boy presents w/ short stature. Height & weight have been < 1st %ile since birth. He is on cyproheptadine for appetite stimulation. Phys exam shows a prominent forehead, relative macrocephaly, triangular facies, & a leg length discrepancy🦵. What's the diagnosis? #GeneChat

Tweet media one

9

9

32

@studyrare

StudyRare 🧬

9 months

Hypohydrotic ectodermal dysplasia is most often caused by an *X-linked* variant in 𝗘𝗗𝗔𝟭 (💡𝗘very 𝗗ude 𝗔t 𝟭ncreased risk). Other causes include WNT10A, ED𝗔𝗥, ED𝗔𝗥𝗔𝗗D (𝗔𝗥 or 𝗔𝗗). Clinical triad of: 1. Hypohydrosis💧 2. Hypotrichosis 👨‍🦲 3. Hypodontia🦷 #GeneChat

Tweet media one

0

8

30

@studyrare

StudyRare 🧬

8 months

To remember the features of Weaver syndrome, use the word "WEAVER": Wide-set eyes 👀 EZH2 variants Advanced bone age 🩻 oVERgrowth (tall stature, macrocephaly, macroglossia) #GeneChat

Tweet media one

0

2

30