Today as early as 4.30 am, i woke up prepare for a 'long journey' back home. Took 6 am LCCT shuttle from KL sentral To LCCT. Quite convienent as I did my online check in and i didnt check in any luggage.
The journey in the shuttle was quite bored. I was sleeping all through out journey. AK 5146 to Bintulu, is delayed until further announcement. Oh no !! It's has been 45 minutes delayed. Anyway, i hope to reach BTU before lunch time, longing for 'Udang terung Dayak' and daun ubi gusuk goreng pusu.
I need to be early because my next trip will begin later evening to Miri.
Thursday, July 16, 2009
Thursday, July 9, 2009
oncology posting
Saritu udah 4 ari aku gawa ba wad 'onkology & heamatology' this is my second round in HUKM... doing this posting i always get connected to my patients. Especially the dying cancer patients. Remembering back my previous onco posting, We had Haiqal (the Sarawakian boy) who had neuroblastoma, passsed away after Raya, Aqilah Maisarah, Big Aqilah, and many more who had undergone their cancer battle. May their soul rest in peace.
I dream of one day,, cancer will no more a "death sentence" disease.
I hope one day, my respected professors Prof Hamidah, Prof Zarina (HUKM) will find the magic tablet!!
or myself...
I dream of one day,, cancer will no more a "death sentence" disease.
I hope one day, my respected professors Prof Hamidah, Prof Zarina (HUKM) will find the magic tablet!!
or myself...
Sunday, July 5, 2009
DiGeorge syndrome
—Also known as Velocardiofacial syndrome.
—Microdeletion of Chromosome 22q11.2 (DiGeorge chromosomal region)
—Incidence and prevalence are population based.
—1 in 4000 – 6000 livebirths.
—Prevalence in different races are same ( white, black and Asian).*
—*Active Surveillance in Atlanta registry for birth defects.
—Most deletions are caused by de novo mutation, but it can be inherited by autosomal dominant fashion.
—8-28% of cases mutation are inherited from parents(16-18).
—Genetic counselling is crucial in family with parents affected because the recurrence rate is 50% and offspring are more severely affected.
—Diagnosis:
—Most patient with phenotype of Velocardiofacial syndrome have a hemizygous deletion of Chromosomes 22q11.2.
—FISH Method is accurate.
—Babies with Chromosome 22q11.2 deletion, typically born with:
—- Cardiac anomaly
—- Abnormal facies (dysmorphism)
—- Thymus hypoplasia
—- Cleft palate
—- Hypocalcaemia
—Patient with chromosome 22q11.2 deletion have various malformations that do not map to branchial arch structures.
—Patient needs a multidisciplinary approach, and every patient has his unique clinical features that need a tailored approach.Most patients are diagnosed shortly after birth because presence of cardiac anomaly, hypocalcaemia and severe immunodeficiency.
—Behaviours, cognitive and psychiatric disturbances are very common.
—Distal skeletal, vertebral and renal anomalies seen in few patients.
HypoCalcaemia
Seen in 18-60% of DiGeorge syndrome.
—Symptomatic hypocalcaemia, intravenous infusion of Calcium Gluconate solution 10% (contain 0.225 mmol/ml) 0.5-2.0 ml/kg slow bolus.
—In failure of PT hormone or defect in Vit D metabolism, alphacalcidol is preferred.
—Oral Calcium replacement.* Nephrocalcinosis can occur as complication of excessive Calcium replacement.
—Immunodeficiency
—Low numbers of T cell seen in 75-80%
—Infants may have mild to severe decrement of T cell.
—Variable hypoplasia of thymus defines Partial Digeorge Syndrome, which is more frequent than the Complete DiGeorge Syndrome.
—In immunodeficiency infant; all transfusions of blood products must be irradiated.
—High risk developing graft-vs- host disease after transfusion.
—At risk for opportunistic infections, such as Pneumocystis jiroveci and Cytomegalovirus.
—Should not receive live vaccines, if low T cells numbers, because of risk developing sepsis.
—CD4 > 400, can safely given MMR live attenuated vaccine.
—Treatment is transplantation of thymus tissues.
—Cardiac anomalies
—Wide range of cardiac abnormalities,
—Most frequent is conotruncal defect.
—2D and colour –Doppler Echo is essential to define the abnormality.
—Cardiac anomalies seen in 75% of DiGeorge Syndrome and are major cause of death.
—Vision- tortous retinal vein in 1/3 of patient.(103).
—Sensori neural HL – 10% of cases
—Speech difficulties – Phonation difficulty d/t anatomical issues (pharingeal insufficiency, vocal cord paralysis)
— - hypernasal voice
—They should undergo early developmental assessment and be enrolled in an early intenvention programme to help the expected educational delays. Such interventions have proven effective both academically and socially.
—Feeding and swallowing problem due to poor muscle and coordination of pharyngeal muscle, tongue and oesophagal muscles(70).
—Organ of abdominal cavity are rarely affected.
—Renal agenesis, dysplastic kidneys, duplicated ureters and minor malformation seen in 1 /3 of patients.(18).
—Nearly 50% of patients has microcephaly(118,119).Parietal lobe is typically affected, which is crucial for learning process.
—Prognosis
—Prognosis in DiGeorge syndrome (DGS) widely varies. It largely depends on the nature and degree of involvement of different organs. Many adults live long, productive lives.
Reference;
—1. Lancet October 2007; 370:1443-52
—2. Nelson Textbook Of Paediatrics, 18th edition
—16.Mc Donald –Mc Ginn et al, The Philadelphia story, 22q11.2 deletion, Gen Couns 1999.
—18. Ryan AK, Goodship JA, Spectrum of clinical features associated with Chromosome 22q11 deletion, Jou Med Gen 1997
—103. Mansour AM, Goldberg RB, Jour Paed Opthal 1997;24,262N,
—118.Barnea-Goraly , Eliez, Arithmetics ability and parietal alteration in velocardiofacial synd, Cogn Brain Res 2005; 25
—Microdeletion of Chromosome 22q11.2 (DiGeorge chromosomal region)
—Incidence and prevalence are population based.
—1 in 4000 – 6000 livebirths.
—Prevalence in different races are same ( white, black and Asian).*
—*Active Surveillance in Atlanta registry for birth defects.
—Most deletions are caused by de novo mutation, but it can be inherited by autosomal dominant fashion.
—8-28% of cases mutation are inherited from parents(16-18).
—Genetic counselling is crucial in family with parents affected because the recurrence rate is 50% and offspring are more severely affected.
—Diagnosis:
—Most patient with phenotype of Velocardiofacial syndrome have a hemizygous deletion of Chromosomes 22q11.2.
—FISH Method is accurate.
—Babies with Chromosome 22q11.2 deletion, typically born with:
—- Cardiac anomaly
—- Abnormal facies (dysmorphism)
—- Thymus hypoplasia
—- Cleft palate
—- Hypocalcaemia
—Patient with chromosome 22q11.2 deletion have various malformations that do not map to branchial arch structures.
—Patient needs a multidisciplinary approach, and every patient has his unique clinical features that need a tailored approach.Most patients are diagnosed shortly after birth because presence of cardiac anomaly, hypocalcaemia and severe immunodeficiency.
—Behaviours, cognitive and psychiatric disturbances are very common.
—Distal skeletal, vertebral and renal anomalies seen in few patients.
HypoCalcaemia
Seen in 18-60% of DiGeorge syndrome.
—Symptomatic hypocalcaemia, intravenous infusion of Calcium Gluconate solution 10% (contain 0.225 mmol/ml) 0.5-2.0 ml/kg slow bolus.
—In failure of PT hormone or defect in Vit D metabolism, alphacalcidol is preferred.
—Oral Calcium replacement.* Nephrocalcinosis can occur as complication of excessive Calcium replacement.
—Immunodeficiency
—Low numbers of T cell seen in 75-80%
—Infants may have mild to severe decrement of T cell.
—Variable hypoplasia of thymus defines Partial Digeorge Syndrome, which is more frequent than the Complete DiGeorge Syndrome.
—In immunodeficiency infant; all transfusions of blood products must be irradiated.
—High risk developing graft-vs- host disease after transfusion.
—At risk for opportunistic infections, such as Pneumocystis jiroveci and Cytomegalovirus.
—Should not receive live vaccines, if low T cells numbers, because of risk developing sepsis.
—CD4 > 400, can safely given MMR live attenuated vaccine.
—Treatment is transplantation of thymus tissues.
—Cardiac anomalies
—Wide range of cardiac abnormalities,
—Most frequent is conotruncal defect.
—2D and colour –Doppler Echo is essential to define the abnormality.
—Cardiac anomalies seen in 75% of DiGeorge Syndrome and are major cause of death.
—Vision- tortous retinal vein in 1/3 of patient.(103).
—Sensori neural HL – 10% of cases
—Speech difficulties – Phonation difficulty d/t anatomical issues (pharingeal insufficiency, vocal cord paralysis)
— - hypernasal voice
—They should undergo early developmental assessment and be enrolled in an early intenvention programme to help the expected educational delays. Such interventions have proven effective both academically and socially.
—Feeding and swallowing problem due to poor muscle and coordination of pharyngeal muscle, tongue and oesophagal muscles(70).
—Organ of abdominal cavity are rarely affected.
—Renal agenesis, dysplastic kidneys, duplicated ureters and minor malformation seen in 1 /3 of patients.(18).
—Nearly 50% of patients has microcephaly(118,119).Parietal lobe is typically affected, which is crucial for learning process.
—Prognosis
—Prognosis in DiGeorge syndrome (DGS) widely varies. It largely depends on the nature and degree of involvement of different organs. Many adults live long, productive lives.
Reference;
—1. Lancet October 2007; 370:1443-52
—2. Nelson Textbook Of Paediatrics, 18th edition
—16.Mc Donald –Mc Ginn et al, The Philadelphia story, 22q11.2 deletion, Gen Couns 1999.
—18. Ryan AK, Goodship JA, Spectrum of clinical features associated with Chromosome 22q11 deletion, Jou Med Gen 1997
—103. Mansour AM, Goldberg RB, Jour Paed Opthal 1997;24,262N,
—118.Barnea-Goraly , Eliez, Arithmetics ability and parietal alteration in velocardiofacial synd, Cogn Brain Res 2005; 25
Subscribe to:
Posts (Atom)