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Prevalence Of Genetic Disorders 2
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- 4. ⌫ ⌫ Factor RR/OR-Ratio (95% CI) Family history of Dementia OR 3.5 (2.6–4.6) V OR 2.62 (1.53–4.51) C Family history of M. Parkinson OR 2.4 (1.0–5.8) V OR 0.86 (0.28–2.61) C Family history of Down Syndrome RR 2.7 (1.2–5.7) V Maternal age at birth > 40 ys RR 1.7 (1.0–2.9) R 15–19 ys RR 1.5 (0.8–3.0) R Head trauma RR 1.82 (1.20–2.67) M Depression RR 1.82 (1.16–2.86) J OR 0.87 (0.46–1.67) C RR 2.94 (1.76–4.91) D Education and occupation RR 2.0–3.2 (1.3–4.1, 2.2–4.6) O OR 4.00 (2.49–6.43) C RR 1.18 (0.61–2.27) Y Vascular risk factors Severe atherosclerosis OR 3.0 (1.5–6.0) H Diabetes RR 2.18 (0.97–4.90) Y Hypothyreosis RR 2.3 (1.0–5.4) B Exposition to toxic substances Adhesives OR 2.16 (1.25–3.70) C Pesticides OR 2.17 (1.18–3.99) C Solvents OR 2.3 (1.1–4.7) K Alcohol abuse no increase of RR G ⌫ ⌦ ⌦ ⌫ ⌫ ⌫ ⌧ ⌧ ⌧
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- 6. ⌦ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌦ ⌫ ⌦ ⌫ ⌫ ☯ ⌫⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ F F F F F ⌫ ⌫ ⌫
- 7. ⌫ ⌫ ⌫ ⌫ ⌫ F ( ) 15 24 2 25 34 1 35 44 1 45 54 55 64 1 65 74 75 84 85 94 7 ⌫ 1. Benign neoplasms of colon 8( F 38.1) 13 2. Hypertrophic cardiomyopathy 8( F 72.7) 3 3. Beta thalassemia 6( F 54.5) 5 4. Hereditary factor VIII deficiency (hemophilia A) 7( F 100) 0 5. Neurofibromatosis (non-malignant) 2( F 40.0) 3 6. Apha thalassemia 2( F 50.0) 2 7. Hereditary factor IX deficiency (hemophilia B) 3( F 100) 0 8. Phakomatosis (Neurocutaneous disorders)* 0( F 0.0) 0 9. Disorders of copper metabolism (Wilson s disease) 1( F 33.3) 2 10. Hereditary deficiency of other clotting factor 1( F 50.0) 1 11. Female with 46,XY karyotype 0( F 0.0) 1 12. Down syndrome 0( F 0.0) 1 13. Thalassemia unspecified 1( F 100) 0 14. Alzheimer s disease with early onset 1( F 100) 0 43 ( F 60.6) 28 ( ⌫ ⌦ ⌫ ⌫
- 8. ⌫ ⌫ ⌫ ⌦ ☯ ⌫ ⌫ ☯ ⌦ ⌫ ☯ ☯ ☯ ⌫ ☯ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ F F (18 1 )
- 9. ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌦ case Diagnosis Age at No. of diagnosis admission 30M Hereditary deficiency of other clotting factor 4 years 5 1. h (congenital hypofibrinogenemia) 2. h 3. (n 4. h 5. h 20M Hereditary factor IX deficiency 3 months 5 1. in (hemophilia A) 2. h 3. in 4. h 5. in 31M Hereditary factor IX deficiency 6 years 2 1. in (hemophilia A) 2. h 20M Hereditary factor IX deficiency 3 months 3 1. i (hemophilia B) 2. in 3. h 15F Beta-thalassemia No record 3 1. a (beta-thalassemia/Hb E disease) 2 15M Beta-thalassemia 4 years 2 1. a (beta-thalassemia/Hb E disease) 2. (n 17M Beta-thalassemia 4 years 2 1. a (beta-thalassemia/Hb E disease) 2. (n 62F Benign neoplasm of colon 62 years 2 1. (n (multiple colonic polyps) 2. c 77F Benign neoplasm of colon 77 years 2 1. c (multiple colonic polyps) 2. c 89M Benign neoplasm of colon 89 years 2 1. c (high grade dysplastic tubulovillous adenoma) 2. la 21F Disorders of copper metabolism 20 years 2 1. g ⌫ ⌫ ⌫ ☯ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫
- 10. ⌫ F F 2 F F F F F F F 7 ⌫ ⌫ ⌫ ☯ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ☯ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ☯ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫
- 11. ⌫ ⌫ ⌫ ⌫ case address Underlying Presentation Treatment disease 16M Bangkok Peutz-Jeghers F/U gastro- Polypectomy(patho : syndrome colonoscope inconclusive specimen) 19F Prajuabkirikan Multiple Admit for surgery Total proctocolectomy adenomatous (no bowel habit (patho : multiple polypos polyposis coli change) coli with focally high grad dysplasia) 24F Bangkok Polyposis coli F/U colonoscope No record of finding 51M Bangkok HBV carrier Chronic Colonoscope/polypectom dyspepsia (patho : Tubular adenom 55M Bangkok Colonic polyps, F/U colonoscope Polypectomy(patho : DM,TVD,DLP tubular adenoma) 55F Bangkok Colonic polyps F/U colonoscope Few colonic tiny polyps (tubular adenoma) (no polypectomy) 56M Nontaburi Colonic polyp F/U colonscope Polypectomy (patho : no found) 57M Samutprakan Colonic polyps F/U colonoscope Normal findings (tubular adenoma), DM,HT,DLP 59F Bangkok Tubulovillous F/U colonoscope Normal findings adenoma, DLBCL 61M Songkhla Small F/U colonoscope No record of finding pedunculated (no bowel habit polyp change) 62F Samutprakan CA sigmoid s/p F/U colonoscope Polypectomy(patho : sigmoidectomy, tubulovillous adenoma) ascending colonic polyp 62F Bangkok DLP Chronic Colonoscope(multiple dyspepsia colonic polyps) 75M Bangkok DM, cecal polyp Bowel habit f/u colonoscope : norma change findings 75F Petchaburi CA corpus, CA Hematochezia Colonoscope : multiple cervix, CRF, HT colonic polyps,radiation proctitis (polypectomy wa done : not found patho
- 12. ⌫ case Address Underlying disease presentation treatment 26M Bangkok Chronic HBV, HCM Recurrent Heart transplantation CHF 29M Bangkok HCM Exertional Intravenous fluid syncope 35M Cholburi HCM Recurrent PPM/AICD implantation CHF 38M Bangkok HT Chest pain Suspected HCM ; beta blocker (echo cardiogram as OPD case) 53F Surattani DM,HT,DLP Dyspnea W/U Dx HOCM ; Rx atenolol,enalapril,nitrate,asa 54M Nakonpatom DM,HT,DLP Chest pain W/U Dx HCM, atenolol,enalapril, nitrate, aspirin 54M Lumpang DM,HT,gout, CAG Normal coronary apical HOCM 57M Nakonsritumarat Hyperthyroid, Chest pain CAG : normal coronary HOCM 63F Bangkok DLP,AF, pulm HT CAG Normal coronary old CVA(emboli), HOCM s/p AICD 74M Cholburi DM,DN,DR, CHF W/U Dx HCM ; diuretic HT,DLP,COPD ⌧
- 13. ⌫ ⌫ ⌫ ⌫ Case Address Underlying Presentation Treatment disease 15F Bangkok B thal/Hb E, post Anemia PRC, desferol splenectomy 15M Bangkok B thal/Hb E, post Anemia PRC, desferol splenectomy,VSD 17M Bangkok B thal/Hb E, post Anemia PRC splenectomy (HbE 50% HbF 41.9%) 17F Bangkok Homozygous beta Anemia PRC, desferol thalassemia, (serum ferritin 9279 hemochromatosis ng/ml) 24F Bangkok B thal/Hb E, post Anemia PRC, desferol & splenectomy, insulin hemochromatosis, (serum ferritin 6057 secondary DM ng/ml) 29F Chumpon B thal/Hb E, post URI, acute PRC, augmentin cholecystectomy(g hemolytic (HbA 28% HbA2/E 42% all stone) anemia HbF 30%) 30F Samutprakan B thal/Hb E, gall anemia PRC, stone with hx of LC on next admission chelecystitis 31M Bangkok Beta thalassemia, AFI , acute Ceftriaxone, PRC moderate TR, mild hemolytic pulm HT anemia 35M Samutprakan Beta thal/assemic anemia PRC, desferol Hb E, post (serum ferritin 8214
- 14. ⌫ ⌫ ⌦ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ☯ ☯ ⌫ ⌫ ☯ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ Case Address Underlying disease Presentation Treatment 20M Bangkok Hemophilia A Hemarthrosis of CP, PRC left elbow 24M Chiangmai Hemophilia A Intramuscular CP bleeding at left thigh 27M Bangkok Hemophilia A Gross hematuria W/U Dx right UC ; (factor VIII 6.3% ; no Rx factor VIII inhibitor) concentrate 30M Bangkok Hemophilia A, Falling then left W/U Dx left iliac post splenectomy hip pain fossa hematoma; (MCA) Rx factor VIII conc. Iv & transamine (no factor VIII inhibitor) 31M Nakonsawan Hemophilia A, Infected CP, cefazolin History of hematoma at (factor VIII 39%; no craniotomy/clot right thigh inhibitor) removal(traumatic epi/subdural hemor.) 32M Bangkok Hemophilia A, Hematoma at CP HBV infection left thigh and (factor VIII 6%; no leg inhibitor) 38M Bangkok Hemophilia A bleeding CP pergum after teeth extraction ⌧
- 15. ⌫ ⌫ ⌫ ⌫ Case Address Underlying Presentation Treatment disease 15F Bangkok Large brown Progressive Partial excision macule, enlargement of mass patho not found mass at at back back since birth 16M Buriram Multiple skin Headache, left CN VI Dexamethasone mass post palsy, bilat CN VIII (surgery was not done) excision (SNHL), MRI : patho ? multiple Schwannomas of bilat CNs, spinal nerve roots; Admit for surgery 30F Shachurngsao Mass at Progressive Partial excision; back enlargement of mass pathology not found since birth at back 34M Buriram Multiple skin Progressive Wedge excision masses enlargement of skin (pathology: diffuse neuro since birth masses fibroma) 45F Nakonswan No known Progressive enlarged Near total tumor mass at right neck removal; patho not (biopsy: fibroma) found (complicated with right TVC paralysis) ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌦ ⌧ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ☯ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫
- 16. ⌫ Case Address Underlying disease Presentation Treatment 15F Rachburi HbH disease anemia PRC 17M Bangkok HbH disease Respiratory tract Ceftrixone, infection, acute PRC hemolytic anemia 19M Udonthani HbH disease(HbA 88% Respiratory tract Ceftriaxone, HbA2/E 2% HbH infection, acute no PRC 11.8%) hemolytic anemia 40F Bangkok HbH disease(HbA 87% Delayed hemolysis, PRC HbA2/E 1% HbH 12%), anemia of chronic SLE,CKD(LN),r/o APS disease ⌫ Case Address Underlying Presentation Treatment disease 20M Buriram Hemophilia B Infected hematoma Factor IX concentrate (factor inhibitor at right thigh Ceftazidime/Amikacin 6.4BU,factor IX (complicated by volume activity 0%) overload rx diuretic) 21M Rayong Hemophilia B Deviated nasal FFP septum post septoplasty then bleeding from raw surface 40M Bangkok Hemophilia B, Dental caries factor IX concentrate chronic HCV Admit for factor IX (factor IX inhibitor infection concentrate before negative) extraction
- 17. ⌫ ⌫ ⌫ ⌫ Case Address Underlying Presentation Treatment disease 16M Songkhla Gelastic seizure MRI: Transcallosal (CPS since 2y) tubercinereum approach/tumor remo harmatoma (hypothalamic neuron hamartoma); on carbamazepine, lamotrigine 21M Srakaoe Short stature, MRI: 1.2x1.0 cm Transcallosal CPS since 10y, well-defined approach/tumor remo polydactyly hypothalamic (hypothalamic neuron mass hamartoma); on phenytoin, phenobarb lamotrigine 51M Samutsakon No known RML nodule RML lobectomy; bronchial hamartom ☯ ⌫ ⌫ ⌧ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫
- 18. ⌫ Case Address Underlying Presentation Treatment disease 16F Nakonrajsima Un known Progressive Wilson s disease; jaundice; on penicillamine macrocytic (serum ceruloplasmin 10.5 hemolytic anemia 24h urine copper 1076 ug/ 21F Lopburi Wilson s Generalized Baclofen, rivotril, artane, disease on dystonia; behavior penicillamine; (serum penicillamine, change ceruloplasmin 2.7; 24-hou Zn sulfate urine copper 46 ug/l) *consult genetician 30M Yasoton No known Progressive w/u Dx Wilson s disease; jaundice; on penicillamine, PRC macrocytic (serum ceruloplasmin 8.75 hemolytic anemia; 24-hour urine copper ARF 14000 ug/l) *consult genetician ⌫ Case Address Underlying disease Presentation Treatment 16F Bangkok vWD IIa Epistaxis Local packing, DDAVP,transamine 30M Samutprakan Congenital Both ankle CP hypofibrinogenemia, hemarthrosis HT, chronic HCV infection, old CVA ⌫ Case Address Underlying Presentation Treatment disease 26F Bangkok Testicular Admit for Laparoscopic bilateral feminization gonadectomy gonadectomy (bilateral immature testis)
- 19. ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌫ ⌦ ⌫ ⌫ ⌫ Case Address Underlying disease Presentation Treatment 16F Bangkok Down syndrome, Cannot care TAH and Case Address Underlying disease Presentation Treatment Closure of VSD with menstruation appendectom infundibulectomy 39M Bangkok Thalassemia; Infective diarrhea, PRC, hemolytic anemia; hemolytic anemia ceftrixone ⌫ LC (stone ?) ⌫ Case Address Underlying Presentation Treatment disease 36M Bangkok No known Progressive MRI severe diffuse brain dementia atrophy,multifoci white matter change EEG diffuse cerebral abnormality no definite pattern; on quetiapine, oxcarbamazepine
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