PAWAN BHASIN roll no. 124 GENERAL MEDICINE E-LOG BOOK. MAY 16,2020
GENERAL MEDICINE E-LOG BOOK. MAY 16,2020
By PAWAN BHASIN roll no. 124
DEMOGRAPHIC DETAILS:
A 42year old female patient with multiple health events since birth
CHIEF COMPLAINTS.
1) Frequent falls to the left. Left foot started giving out as well as hand. one fall down stairs sprained and broke ankle (last year) X-ray below. Poor stress response.
1) Frequent falls to the left. Left foot started giving out as well as hand. one fall down stairs sprained and broke ankle (last year) X-ray below. Poor stress response.
2) Swelling/ hair loss (head and eyelashes) Fatigue. Left jaw pain up into face.
3) Breathing difficulties.
4)intolerance from most foods, smoke.
5)Always less urination which increase when fasting.
6)Sleep was bad with 2-4 hours.
Drug history:
1) L-Serine 20 gm at night,
2)Ribose 2 gm every hour in water, if any major exercise or exertion.
3)400mg cimitidine
4)600mg NAC
5)Iron folate 500% of RDA
PATIENT HISTORY.(main points)
Birth - 1 year.
Severe Jaundice
Did not sleep. (very less, 2-4 hours only once in a day)
Birth - 1 year.
Severe Jaundice
Did not sleep. (very less, 2-4 hours only once in a day)
Tongue tie and upper lip tie. (cut by surgery at age 13 or 14)
Large upper tori.
Did not sleep. (very less, 2-4 hours only once in a day and sometimes twice)
Screamed constantly.
Vomited anything aside water and very salty broth (tried breast milk and multiple kinds of formula but no benefit) Would swell up severely- particularly in face/head and abdomen. Would zone out- mother called this googoo eyes- one of the few times I was quiet and would be fairly zoned out staring into space- this can still happen- I now feel an overwhelming tiredness or just like my brain completely stops working but am aware and can force myself to do things but it is a great struggle- like being in a heavy fog.
Sleep was never more than 2-4 hours at a time. Poor parents accused of abuse as weight would fluctuate- granny then got custody.
Large upper tori.
Did not sleep. (very less, 2-4 hours only once in a day and sometimes twice)
Screamed constantly.
Vomited anything aside water and very salty broth (tried breast milk and multiple kinds of formula but no benefit) Would swell up severely- particularly in face/head and abdomen. Would zone out- mother called this googoo eyes- one of the few times I was quiet and would be fairly zoned out staring into space- this can still happen- I now feel an overwhelming tiredness or just like my brain completely stops working but am aware and can force myself to do things but it is a great struggle- like being in a heavy fog.
Sleep was never more than 2-4 hours at a time. Poor parents accused of abuse as weight would fluctuate- granny then got custody.
3 Year
Began shaving. Excessive hair growth on face/neck/toes/ and legs.
Still only sleeping 2-3 hours.
Began shaving. Excessive hair growth on face/neck/toes/ and legs.
Still only sleeping 2-3 hours.
Tongue tie and upper lip tie. (cut by surgery at age 13 or 14)
Still ate almost nothing without getting sick but was not forced to eat by granny and ate only when I wanted.
Smaller than most of my larger family but still within norms for height if not weight.
Still ate almost nothing without getting sick but was not forced to eat by granny and ate only when I wanted.
Smaller than most of my larger family but still within norms for height if not weight.
4 Years
Chronic UTI
Kidney infections
Strep throat
Lung infections
Multiple sprained ankles and knees.
(hospitalized 3 times for above issues as a kid and once as an adult later).
Since being vaccinated for pneumonia at age 28 no hospitalization for lung issues.
Severe reaction to sulfa drugs (Given as infant, mother said).
Severe headaches (since age 2).
Migraines entire life- interfered with school life and still have them.
Chronic UTI
Kidney infections
Strep throat
Lung infections
Multiple sprained ankles and knees.
(hospitalized 3 times for above issues as a kid and once as an adult later).
Since being vaccinated for pneumonia at age 28 no hospitalization for lung issues.
Severe reaction to sulfa drugs (Given as infant, mother said).
Severe headaches (since age 2).
Migraines entire life- interfered with school life and still have them.
12 years age - got diagnosed for cervical degeneration and scoliosis seen on x-rays for lung infection
15 year age - headache severity increased to the point unable to get out of bed- forced to go to school. Attempted suicide. Put in managed care- having very difficult situations.
began to gain weight.Was about 95 lbs at 5ΚΌ4 inches .
21 year age- ectopic pregnancy. Fearful of docs after past experience and had to pass out before being rushed for surgery.
After surgery, scar revision/wound debridement- again awoke during surgery.
22 year age- chronic abdominal pain around periods. CT showed multiple ovarian cysts- diagnosed. PCOS.
23 year age- Hospitalized for 2 weeks for severe (worst ever) kidney infection and pneumonia at the same time.
Type aB melanoma and 4 precancerous tissues removed seen while in hospital.
24 year age- worsening migraines, ovarian cysts and pain but bearable.
32 year age- Severe reaction to antimalarials- was in remote Ethiopia (was NGO trip and then stayed longer to explore and visit friends.), felt like I was dying but in the middle of nowhere. Diarrhoea vomiting swelling and brain felt like a slug- useless and thinking hard, sleeping a lot or passed out. At the time and took 2 weeks to recover to a base level of functioning. Later that year got swine flu (H1N1 active) and pneumonia- was vaccinated for pneumonia with both types of vaccinations over 2 doses.
35 year age- after “failed” LASIK for her poorvision.
35 year age- Diagnosed adhd/autism spectrum by therapist and psychiatrist.
34 year age- Migraines increased. Left hand going numb probably potential hemiplegic migraine was at play. Had a dose of triptans.
genetic test done last year having G6PD deficiency and AMPD1 Deficiency.
Diet
an apple once a day,
Have tried many type of diets.
Had been sick when followed dietician a year back.
Olive oil - 1/2 cup daily approx.
34 year age- Migraines increased. Left hand going numb probably potential hemiplegic migraine was at play. Had a dose of triptans.
genetic test done last year having G6PD deficiency and AMPD1 Deficiency.
Diet
an apple once a day,Have tried many type of diets.
Had been sick when followed dietician a year back.
Olive oil - 1/2 cup daily approx.
Family history:
Mother was diagnosed for fibromyalgia.
Father had heart attack in 40s.
Grand father had early death
Genetics
Seattle type G6PD deficiency
AMPD1 - AMPD1 deficiency heterozygous
MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels
WNK1 mutation
HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry
VWF - association with Von Willebrand disease type 1
DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.
CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence
ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.
TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease
LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations
PNPLA3 - increased liver fat, odds of alcoholic liver disease
BACE1 - 2x increased ALZ risk in ApoE4 carriers
BSN - 1.1x risk Crohn's Disease
Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues,
INVESTIGATIONS:
Heart Rate from a recent normal day 83 beats per minute.
EEG REPORT :
On 1st day L-Serine
Edema changes within a week
1 week apart
1 Day apart
Infant (frontal bossing showing high ICP?)
MRI CT SPINE:
Fracture (Broke other ankle again last June after falling. Was put in walking boot.)
Rashes on Face (Usually 2-4 times a year. Past 6 months have not had one.)
How you know its EBV in your case?getting labs no EBV active.
Various Lab. records from last year
DIAGNOSIS. ANY recent episode to oxidants.. yes. Fava beans consumption.
Treatment.
It is a genetic disorder so no cure.
Treatment of symptoms can be done
Avoid triggers like oxidants
If Hemolytic episode is seen then hydration followed by blood transfusion based on severity of anemia.
Some of the treatment options
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC
Some of the treatment options
1- Ribose diet
2- L serine for sleep
3- cutting oxidative stress
4.vitamin B complex
5.antioxidant vitamins
6.fructose+antioxdants
7 salt + butter
8.keto diet.
9. iron folate supplemets.
10. antioxidant supplement pycnogenol
11.cimetidine for swelling - tried and helped
12. NAC
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