Clinical Genetrics; Tisomy of Chromosome 21 or Down's Syndrome with its Features and Characteristics otherwise Signs and Symptoms is a typical Pathology of Congenital Developmental Type. It is a due to Non Disjunction of the Ova (Maternal Age Risk Factor) and Accumulated Error of Aneuploidy, namely 1) Trisomy (95%), 2) Translocation (3%) and 3) Mosaic (2%). Incidence is 1 in 773 Births where 90% of Prenatal screened Pregnancies result in Abortion. SSx: 1) Craniofacial: 1) Flat Face ( 90% Prevalence); 2) Upward slanted palpebral fissures (80%); 3) Dysmorphic Ears (Dysplastic Ears at 60% Presence); 4) Epicanthal Fold; 5) Protruding Tongue; 6) Small Nose with Flat Ridge; 7) Third Fontanelle. 2) Gastrointestinal: 10 Duodenal Atresia; 2) Hirschsprung Disease; 3) Annular Pancreas; 4) Imperforate Anus; 5) Tracheoesophageal Fistula (TEF). 3) Musculoskeletocutaneous: 1) Joint Hyperflexibility (80%); 2) Simian Crease (45%); 3) Short Neck/redundant Skin (80%); 4) Sandal Sign (45%); 5) Short 5th Finger (Pinky) with Clinodactyly (80%). 4) Central Nervous System (CNS): 1) Hypotonia (85%); 2) Hyposympathetia (Moro Reflex)/ Brain Stem Atrophy/Agenesis (80%). 5) Other: 1) Refractive Errors, Cataracts (Ophthalmopathy); 2) Hearing Loss; 3) Epilepsy; 4) Polycythemia and Acute Lymphoblastic Leukemia (ALL); and Celiac Disease. All Neonates with Downs Syndrome merit Congenital Heart Disease Screening. Developmental Milestones (Expressive Language, Feeding et al) and Psychiatric Comorbidity (Depression, Autism Spectrum, and Psychosis et al) are present due to reduced Cognition (18-38%). In regards to Diagnosis, prenatal Screening (90%) via Chromosomal Analysis (Trisomy 21). There are Prenatal Screening at the First Trimester (Obstetrical Imaging via Ultrasound showing Fetal Nuchal Translucency) and Second Trimester Quad Screening (Laboratories of 1) Alpha Fetal Protein [AFP] low; 2) Human Choriogonadotropin [HCG] is High; Estriol is Low; and 4) Inhibin A is High) and Chorionic Villi Sampling for Positive Ultrasound and Marker Screen (Other Factors: 1) Advanced Maternal Age and 2) Past Down Syndrome Pregnancy increase Suspicion). Other Congenital Pathology with a Differential Diagnosis are as follows: 1) Edwards Syndrome (Tisomy 18); 2) Patau Syndrome (Tisomy 13) and 3) Turner's Syndrome is Monosomy X (45, X0) and can be differentiated in the Quad Marker Screening. Differential Diagnosis: 1) Turner is basically identical as Downs but more pronounced Elevations, Very High. 2) Pataus Syndrome has a AFP that is High and other are Low while 3) Edwards has Very Low HCG and Low Estriol. Management of DS: 1) Routine Neonate Care; 2) Comorbidity Attention (Failure To Pass Meconium, Tracheoesophageal Fistula etc) 3) Thyroid Function Test (TFT) for Hypothyroidism; 4) Cardiologist Consult for Possible CHD; and 5) Pediatric Ophthalmology Consult for Ophthalmopathy Screening. Long term Management: 1) Health Maintenance where 1) Annual Visual Testing (Cataracts and Refractive Errors) 2) Audition Care (Serous OM Risk of 70%), 3) Annual TFTs, 4) Down Growth Chart, 5) Diet Advice (Obesity Comorbidity), 6) Radiography ( 1) Atlantoaxial Subluxation 2) Neurological Manifestations 3) Contact Sports) are of essence and are Standard Of Care (SOC), 2) Social Functioning 1) Speech and Language Therapy, 2) Physical and Occupational Therapy are required. Prognosis: 1) Life Expectancy (50s), and 2) Alzheirmers Disease (Early Onset) Risk at 2-3 overall. Goodness, my first neonatal obstetrical upset, a Downs Syndrome Subject. He is fine but the parents are upset their Prenatal Screening failed to make the Diagnosis Earlier. Just kidding. Over 50% percent of the World Population are Mongoloid Gene Carriers of the Downs Syndrome Pathology. Certainly a potential Eugenic Reckoning Matter as well. MD Paul Bolin, es gut ist zu geboren sein, Ja nah!
Yeah... Of course random people from a different country than you will be able to understand exactly what you're trying to say when speaking a foreign language.
Your baby has a flat face. For a number of reasons. 1. Look in the freaking mirror. 2 look around country of origin. Im thinking shit hole. 3 you have halftard. Unable to produce a whole unit
18:43 says that the amyloid plaque protein is on chromosome 13, but he meant to say chromosome 21.
Thank you Dr. Bolin!
Clinical Genetrics; Tisomy of Chromosome 21 or Down's Syndrome with its Features and Characteristics otherwise Signs and Symptoms is a typical Pathology of Congenital Developmental Type. It is a due to Non Disjunction of the Ova (Maternal Age Risk Factor) and Accumulated Error of Aneuploidy, namely 1) Trisomy (95%), 2) Translocation (3%) and 3) Mosaic (2%). Incidence is 1 in 773 Births where 90% of Prenatal screened Pregnancies result in Abortion. SSx: 1) Craniofacial: 1) Flat Face ( 90% Prevalence); 2) Upward slanted palpebral fissures (80%); 3) Dysmorphic Ears (Dysplastic Ears at 60% Presence); 4) Epicanthal Fold; 5) Protruding Tongue; 6) Small Nose with Flat Ridge; 7) Third Fontanelle. 2) Gastrointestinal: 10 Duodenal Atresia; 2) Hirschsprung Disease; 3) Annular Pancreas; 4) Imperforate Anus; 5) Tracheoesophageal Fistula (TEF). 3) Musculoskeletocutaneous: 1) Joint Hyperflexibility (80%); 2) Simian Crease (45%); 3) Short Neck/redundant Skin (80%); 4) Sandal Sign (45%); 5) Short 5th Finger (Pinky) with Clinodactyly (80%). 4) Central Nervous System (CNS): 1) Hypotonia (85%); 2) Hyposympathetia (Moro Reflex)/ Brain Stem Atrophy/Agenesis (80%). 5) Other: 1) Refractive Errors, Cataracts (Ophthalmopathy); 2) Hearing Loss; 3) Epilepsy; 4) Polycythemia and Acute Lymphoblastic Leukemia (ALL); and Celiac Disease. All Neonates with Downs Syndrome merit Congenital Heart Disease Screening. Developmental Milestones (Expressive Language, Feeding et al) and Psychiatric Comorbidity (Depression, Autism Spectrum, and Psychosis et al) are present due to reduced Cognition (18-38%). In regards to Diagnosis, prenatal Screening (90%) via Chromosomal Analysis (Trisomy 21). There are Prenatal Screening at the First Trimester (Obstetrical Imaging via Ultrasound showing Fetal Nuchal Translucency) and Second Trimester Quad Screening (Laboratories of 1) Alpha Fetal Protein [AFP] low; 2) Human Choriogonadotropin [HCG] is High; Estriol is Low; and 4) Inhibin A is High) and Chorionic Villi Sampling for Positive Ultrasound and Marker Screen (Other Factors: 1) Advanced Maternal Age and 2) Past Down Syndrome Pregnancy increase Suspicion). Other Congenital Pathology with a Differential Diagnosis are as follows: 1) Edwards Syndrome (Tisomy 18); 2) Patau Syndrome (Tisomy 13) and 3) Turner's Syndrome is Monosomy X (45, X0) and can be differentiated in the Quad Marker Screening. Differential Diagnosis: 1) Turner is basically identical as Downs but more pronounced Elevations, Very High. 2) Pataus Syndrome has a AFP that is High and other are Low while 3) Edwards has Very Low HCG and Low Estriol. Management of DS: 1) Routine Neonate Care; 2) Comorbidity Attention (Failure To Pass Meconium, Tracheoesophageal Fistula etc) 3) Thyroid Function Test (TFT) for Hypothyroidism; 4) Cardiologist Consult for Possible CHD; and 5) Pediatric Ophthalmology Consult for Ophthalmopathy Screening. Long term Management: 1) Health Maintenance where 1) Annual Visual Testing (Cataracts and Refractive Errors) 2) Audition Care (Serous OM Risk of 70%), 3) Annual TFTs, 4) Down Growth Chart, 5) Diet Advice (Obesity Comorbidity), 6) Radiography ( 1) Atlantoaxial Subluxation 2) Neurological Manifestations 3) Contact Sports) are of essence and are Standard Of Care (SOC), 2) Social Functioning 1) Speech and Language Therapy, 2) Physical and Occupational Therapy are required. Prognosis: 1) Life Expectancy (50s), and 2) Alzheirmers Disease (Early Onset) Risk at 2-3 overall. Goodness, my first neonatal obstetrical upset, a Downs Syndrome Subject. He is fine but the parents are upset their Prenatal Screening failed to make the Diagnosis Earlier. Just kidding. Over 50% percent of the World Population are Mongoloid Gene Carriers of the Downs Syndrome Pathology. Certainly a potential Eugenic Reckoning Matter as well. MD Paul Bolin, es gut ist zu geboren sein, Ja nah!
That Quad screen nemonic was great! Thank you!
THANK YOU!
Thank you
sir pls upload anatomy videoes
my baby flat face sir.but not downsyndrome ethu ena problem sir. plzz replay
Yeah... Of course random people from a different country than you will be able to understand exactly what you're trying to say when speaking a foreign language.
Your baby has a flat face. For a number of reasons. 1. Look in the freaking mirror. 2 look around country of origin. Im thinking shit hole. 3 you have halftard. Unable to produce a whole unit
grt sir awsm
❤