JPS118-01504172100@
JPS118
82747
1-高1 Biotin
chemical C10H16N2O3S vitB7 low Biotinemia alopecia
1-高2 ac pancreatitis
# 3 LDL CRP severe - shock motal rate 33% ( n very few)
* using inslin pomp
japanese SCORE passes japanese
sosi00-01206142241@
Evidence Based Medicineとは確率的である。なぜならば
Aという病気の症状Bの感度Sが50 、特異度SPが75 とは、Bが現れる敏感さは1/2だが、疑陽性は100ー75で1/4 程度
だから尤度（S/(1-SP)) = 1/2 / 1/4 なので 2となる。
このように、 尤度（ゆうど）確率 偽陽性率に対する陽性率で高ければ、疾患Aに大して意味のある症状B（や検査）である意味。
多分、ある疾患の症状が多数の場合は、その尤度が高い方が意味がある。
参考
1-高3 DM
type 1 DM is difficult to controle. Rate doctors rare is cause. problem of transition to internal specialist.
1-高4 intestine capsel endoscope Initially Patency capsel is used.
Then they use real caps. endoscope. before 6 yo induce with endoscopy is need.
So there are relative many cases of Crohn which has high freq. of isthymus.
1-高5 Rituximab -> i nephrotic syndr
side effect leucocytepenia very caution to persistent low IgG-nemia
1-高6 mitochondrial respiratory chain disorders MRCDs
Mitochondrial defiiciency has relation to SIDS
Leigh sydrome etc. Exon seq is very effective.
O2 consumption must relative with mitochondrial diseases.
1-高7 Psycho-smatic score
Qestionnaire for triage and assessment - question paper
Kid Kindle from Germany
(QTA 7s method is very controle mind not so objective equiv.)
1-高8
Fukuyama CMD alphadistrogrican abnormality
antisence therapy
ADG needs not so rich. low volume ADG improving the disease.
Fukutin improved operation of ADG kw exon trapping
SL-1 PROF YAMANAKA
Recent Progress in iPS cell Research and application
he was very pitty powerless some patients
VW means not automobile but visions worker
Vision cure the spondilotic patient
Bannow is Pluripotency
PAD past america depression
2 events; Human Embryonic stem cell developped , and NIST in 1999
resistancy against ethical problem
Oct3/4 Sox3 c-Myc KIf4 make iPS from Skin cells in 2007 by Human cells
1) make myocardiac cell from blodd cell, iPSC by Dr Takahashi
2) drug development achondroplasia ,causes by one small mutation
if to wish making iPS induced cartilage bone cells fail. but by giving a drug
make normal beatiful cells ; they must make a drug
3) regenerative medicine by iPS ex. Parkinson's , blood cells proriferation in thrombocytepenia -> blood transplantation
4) Vision for Injury Dieseases neurocells makes from iPS ;continuing research level
5) personalized Medicine ; relative drug efficathy between drug-effective or drug- no effective groups
6) modifing 5 disease improvinf by iPS
they cont very high so, makein iPS bank. HLA typing is important HLA matching
homozygous cells need
🔴Symposium -9
EL 8 from Hongkong evolution of treatment of Neuroblastoma
EL 9 Primary Immunodeficiency Diseases There is PID experts centre
Database network in Japan;
Amplicon PCR sequence JDMU
GATA-2 mutancy,sel. IgA deficiency
RAG mutation makes influenced T,B cell activity
X-linked thrombocytopenia bm transplantation CD40 deficiency
why in younger children's survival rate high in CD40 Def?
Clinical Sequencing Technology
eliination of sequencing /PCR error
RAPID system ,there is.
Local Deta Analaysis by mac mini standalone
PID from India W-A sydrome major
There are some history asian corraboration in PID .
only one type cell defficienty is very happy to invent
training PID specialists in India ;course pediatoric clinical immunology
India has 30 states.Not so rapid invoice
from USA ? chronic granulomaous disease,CVID
Howto prevention antimicrobial attack ;immunogloblin replacement
Hyper IgM syndrome(maybe CD40 def?) antibiotics ' menu is variable for many type of deficiencies, but why? the phenotype is similar in each disease? there are able to
make some group? All inactivated vaccines are recommended for all phagocytic cell defects , nevertheless live vaccination
from Japan XLA
CB-CD34+ etc,etc many type of pro-B cell targetted via transportation vector viruses
CRISPR-Cas9 system HD-Ad.AAV vector virus
PAS/ASPR/JPS endocrie,DM,obesity
We report a six-year-old boy with congenital generalized lipodystrophy type 4. He presented with poor weight gain at four months of age and an elevated serum CK level was noted. At age one year, muscle biopsy showed dystrophic changes. A homozygous mutation in the PTRF gene confirmed his diagnosis. On admission, he showed slightly hypertrophic muscles of the extremities. His subcutaneous fat was decreased, especially of the face and extremities. Laboratory examination was as follows：TG 243（30−150）mg/dL；HDL-C 24（40−80）mg/dL；adiponectin 0.8（＞4.0）μg/ml；and leptin 1.3（0.9−13.0）ng/ml. His body fat was 9.8% measured by DXA. His basal metabolic rate was 1500 kcal. OGTT revealed insulin resistance. Metreleptin was initiated following these examinations. Metreleptin treatment reduced insulin resistance and hypertriglyceridemia. This is thought to occur via central nervous system mechanisms and activation of AMPK, PPARγ, etc. in the periphery. Improvement of hypertriglyceridemia will minimize ectopic lipid deposition and potentially improve the prognosis of these patients. In contrast, HDL-C remained low. The absence of fat may modify the effect of metreleptin.
In BIjing younger DM patient increasing more raipid than hispanic or another legions
cost of education, who educates DM groroup? Thit's problem
glucose fluctuation（up and down by insulin)