2009 Stretch for the Treatment and Prevention of Contractures
PowerPoint Presentation Panel Request... · Hirschsprung disease Hepatic failure Elevated...
Transcript of PowerPoint Presentation Panel Request... · Hirschsprung disease Hepatic failure Elevated...
(สามารถเกบตวอยางทตเยน 4◦C ไมเกน 1 สปดาห)
(ความเขมขน >100 ng/ l ละลายใน TE buffer หรอ Low-EDTA TE buffer)
(กรณาตดตอเจาหนาทหองปฏบตการ 0-2419-2736)
Axonal CMT Panel (seq & del/dup of 18 genes) Congenital Myopathy & Muscular Dystrophy Panel Neuromuscular Disorders Panel Other…………………………………………………...
Comprehensive Arrhythmia Panel Comprehensive Cardiomyopathy Panel Comprehensive Epilepsy Panel Other…………………………………………………..
Breast Cancer High Risk Panel Breast/Ovarian Cancer Panel Colorectal Cancer Panel Comprehensive Cancer Panel OncoGeneDx Custom Panel Other…………………………………………………..
BRCA 1/2 Sequencing and Del/Dup Analysis Noonan Spectrum Disorders Panel DMD Gene Sequencing Other…………………………………………………..
MEN1 Gene Sequencing & Del/Dup Mito Genome Sequencing & Deletion Testing Custom ExonArrayDx Whole Genome Array (GenomeDx) Other…………………………………………………..
InherigenPlus Connexin Gene Testing Other…………………………………………………..
Inherigen InherigenTX SRY Gene Sequencing Other……………………………………………………………………………………………………………………
รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 1/5
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อ.นพ.ชนนทร ลมวงศ หรอ รศ.นพ.มานพ พทกษภากร
Cystic hygroma/increased NT IUGR
Oligohydramnios Polyhydramnios Prematurity
Failure to thrive Growth retardation/short stature
Microcephaly Head circumference: ________ Overgrowth Macrocephaly
Developmental regression Fine motor delay
Gross motor delay Intellectual disability/MR IQ: _____________ Learning disability
Speech delay
Autism spectrum disorder
Autistic features Behavioral/Psychiatric abnormalities Obsessive-compulsive disorder
Stereotypic behaviors
Abnormal hair
Blindness Cataracts Cleft lip/palate
Coloboma of eye CPEO (Ophthalmoplegia) External ear malformation
Facial dysmorphism - please describe: _____________________________________________________ _____________________________________________________ Optic atrophy Ototoxicity (aminoglycoside-induced) Ptosis
Retinitis pigmentosa Sensorineural hearing loss Speech articulation difficulties
Visual impairment
Arrhythmia/conduction defect
ASD/VSD (circle if applies) Cardiomegaly Cardiomyopathy
Coarctation of aorta Hypoplastic left heart Tetralogy of Fallot
Chronic diarrhea Constipation
Delayed gastric emptying Gastrointestinal reflux Gastroschisis/omphalocele
Hepatic failure Nausea Pyloric stenosis
Recurrent vomiting Tracheoesophageal fistula
Epileptic encephalopathy Febrile seizures
Dravet syndrome Focal seizures Generalized seizures
Absence Clonic Myoclonic Tonic-clonic Infantile/epileptic spasms
Ohtahara syndrome West syndrome Status epilepticus
Abnormalities of basal ganglia Agenesis of the corpus callosum Brain atrophy
Cortical dysplasia Hemimegalencephaly Holoprosencephaly
Hydrocephalus Lissencephaly Molar tooth sign
Periventricular leukomalacia Periventricular nodular heterotopia Polymicrogyria
Pontocerebellar hypoplasia Subcortical band hetertopia Tumor (type: ________________________)
Abnormal electromyography (EMG) Dysphagia
Easy fatigue Exercise intolerance Hypertonia
Hypotonia Joint hyperflexibility Joint hypermobility
Muscle fasciculations Muscle stiffness Muscle wasting Muscle weakness: proximal/distal/ upper limb/lower limb (circle all that apply) Myotonia Respiratory insufficiency
Nerve conduction velocities:
Normal Abnormal Ataxia Bulbar signs
Chorea Congenital Neuropathy Distal motor neuropathy
Dystonia Episodic apnea (sudden) Foot drop
Hypomyelination Lower extremity weakness Pes cavus
Pressure palsy Recurrent headache/migraine Reduced/absent deep tendon reflexes
Sensory Neuropathy Hyperesthesia Paresthesia Sleep apnea
Spasticity Stroke/stroke-like episodes Tremor
Vocal cord paresis
Abnormal sweating Abnormal temperature regulation
Diabetes mellitus: Type 1 Type II Gynecomastia Hypoparathyroidism
Hypothyroidism Pheochromocytoma/paraganglioma
Club foot Contractures Hammer toe
Hip dysplasia Osteomyelitis/necrosis Polydactyly
Scoliosis Syndactyly Vertebral anomaly
Ambiguous genitalia Hydronephrosis
Hypospadias Kidney malformation Neurogenic bladder
Renal tubulopathy Undescended testis
CPK abnormalities (value:______________) Elevated alanine Elevated pyruvate
Hyperammonemia Hypoglycemia Ketosis
Lactic acidemia/high CSF lactate Low plasma carnitine Organic aciduria
Muscle biopsy COX deficiency
Histology:___________________________ Large mitochondria (mt)/mt proliferation Positive newborn screen: _____________
Ragged red fibers Respiratory enzymes: ________________ Ultrastructure (EM): __________________
Nerve biopsy Histology:___________________________ Ultrastructure (EM): __________________
Array CGH: ___________________________
Chromosomes/FISH: ____________________ Other relevant results (clinical or research): __________________________________________________ __________________________________________________ Draw/attach pedigree and/or
include additional clinical information ______________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________
รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 2/5
❒ Age(s) at Dx: _____ ER ___ PR ___ HER2 ___ ❒ triple negative ❒ Bilateral ❒ Two Primaries ❒ Invasive Ductal ❒ Invasive Lobular ❒ DCIS ❒ LCIS ❒ Other: __________________________________ ❒ Age(s) at Dx:___________ ❒ Serous ❒ Mucinous ❒ Endometrioid ❒ Clear Cell ❒ LMP/Borderline ❒ Other: __________________________________ ❒ Age(s) at Dx:___________ ❒ Serous ❒ Mucinous ❒ Endometrioid ❒ Clear Cell ❒ Sarcoma ❒ Other:___________________________________ ❒ Age(s) at Dx:___________ ❒ Adenocarcinoma ❒ IPMN ❒ Neuroendocrine ❒ Other: _________________ ❒ Age at Dx: ___________ Gleason Score: ____________________________ ❒ Age(s) at Dx: ___________❒ Invasive ❒ In-Situ ❒ Age(s) at Dx: ___________ Pathology: ______________________
❒ Age(s) at Dx: ___________ Pathology: __________________________ Location: ❒ Right ❒ Left ❒ Transverse ❒ Rectum ❒ Age of first polyp: ________ ❒ Adenomatous - total #: ___________________ ❒ Other - Pathology: ______________________ Other - total #: ___________________ ❒ Age(s) at Dx: ___________ ❒ Thyroid ❒ Pathology/Diagnosis: _____________________________________ ❒ Pheochromocytoma (PCC) ❒ Paraganglioma (PGL) Location: ______________ ❒ Bilateral ❒ Age(s) at Dx: ___________ ❒ Bilateral ❒ Clear Cell ❒ Papillary Type (I or II) : ____________________ ❒ Transitional Cell ❒ Other: _________________________________ ❒ Age(s) at Dx: ___________ Pathology: _____________________ ❒ _____________________________ Age at Dx: ___________
: ❒ Not Done ❒ High ❒ Stable ❒ Low : ❒ Not Done ❒ Present
❒ Absent IHC of: ________________________ : ❒ Not Done
❒ Methylated - Tumor Only ❒ Methylated - Tumor and Normal Tissue ❒ Unmethylated
: ❒Not Done ❒Present ❒Absent Please include a copy of the full tumor testing report, if available.
หนา 3/5
❒ No Personal History of Genetic Testing
Gene(s) Tested: ___________________________ ❒ Positive _______________________________ ❒ VUS __________________________________ ❒ Negative
❒ No Known Tumor Testing Results Tumor Type Tested: ___________________________________________________________________________________________________________________________
รหสเอกสาร: SI-04-2-015-C-RS5-00
❒ No Known Family History of Genetic Testing ❒ Relative Tested:_______________________ ❒ Gene(s) Tested: _______________________ ❒ Positive __________________________ ❒ VUS _____________________________ ❒ Negative
รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 4/5
❒ Yes ❒ No
Maximum QTc interval:____________
Maximum LV wall thickness:________mm
Z score: _______
EF%:__________
Aortic root dimensions: ________mm
Z score: __________
Epistaxis: ❒ Yes ❒ No
Idiopathic PAH: ❒ Yes ❒ No
Familial PAH: ❒ Yes ❒ No
History of sudden death
If Yes, please specify
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__________________________________
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❒ Yes ❒ No
รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 5/5
Prematurity IUGR
Oligohydramnios Polyhydramnios Cystic hygroma/increased NT
Failure to thrive Growth retardation/short stature
Overgrowth Macrocephaly Microcephaly
Fine motor delay Gross motor delay
Speech delay Intellectual disability/MR IQ: _____________ Learning disability
Developmental regression
Autism spectrum disorder
Autistic features Obsessive-compulsive disorder Stereotypic behaviors
Other psychiatric symptoms
Cataracts
Cleft lip/palate Coloboma of eye CPEO (opthalmoplegia)
Ptosis Blindness Optic atrophy
Retinitis pigmentosa Hearing loss Ototoxicity (aminoglycoside-induced)
External ear malformation Facial dysmorphism - please describe: __________________________________________________________ __________________________________________________________
ASD
VSD Coarctation of aorta Hypoplastic left heart
Tetralogy of Fallot Cardiomyopathy Arrhythmia/conduction defect
Other: ________________________________
Age of onset: ___________________________
Tumor type: ____________________________ Location(s):_____________________________ Affected relatives: _______________________ ______________________________________________________________________________________________________________________ ___________________________________________________________
Abnormal hair: ________________________ Quality/Quantity: ___________________
Hair distribution: ____________________ Abnormal nails: _______________________ Abnormal pigmentation: ________________
Abnormal connective tissue: _____________ Blistering Ichthyosis
Skin tumors/Malignancies Other: _______________________________
Agenesis of the corpus callosum Holoprosencephaly Lissencephaly
Cortical dysplasia Heterotopia Hydrocephalus
Brain atrophy Periventricular leukomalacia Hemimegalencephaly
Abnormalities of basal ganglia Other: _______________________________
Ataxia Chorea Dystonia
Hypotonia Hypertonia Seizures (type:________________________)
Spasticity Exercise intolerance/easy fatigue Muscle weakness
Stroke/stroke-like episodes Recurrent headache/migraine
Gastroschisis/omphalocele Pyloric stenosis Tracheoesophageal fistula
Delayed gastric emptying Eosinophilic esophagitis Gastrointestinal reflux
Recurrent vomiting Chronic diarrhea Constipation
Chronic intestinal pseudo-obstruction Hirschsprung disease Hepatic failure Elevated transaminases
Contractures Club foot
Polydactyly Syndactyly Scoliosis
Vertebral anomaly Other: ______________________________
Ambiguous genitalia Hypospadias Hydronephrosis
Undescended testis Kidney malformation Renal agenesis
Renal tubulopathy Other: _______________________________
Diabetes mellitus: Type 1 Type II Hypothyroidism
Hypoparathyroidism Pheochromocytoma/paraganglioma
Ketosis Lactic acidemia/high CSF lactate Elevated pyruvate
Elevated alanine Organic aciduria Low plasma carnitine
CPK abnormalities
Anemia/neutropenia/pancytopenia
Immunodeficiency Other:________________________________
Chromosomes/FISH: ____________________ Array CGH:____________________________ Fragile X syndrome: _____________________
Muscle biopsy: ________________________ Other relevant results (clinical or research): __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________
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อ.นพ.ชนนทร ลมวงศ /รศ.นพ.มานพ พทกษภากร