PPT-Sticklers Syndrome

By Sherene Minhas Stickler syndrome Gene Mutation COL11A1 Stickler syndrome Gene Mutation COL11A2 Stickler syndrome Gene Mutation COL2A1 Types of Stickler Syndrome A Gene Mutation. By: Jessica Kotelnicki. What is it?. A developmental disorder caused by an extra copy of chromosome 21. Having this extra chromosome means that each gene may be producing more protein then normal. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate.. د. حسين محمد جمعة . اختصاصي الامراض الباطنة . البورد العربي . كلية طب الموصل . 2010. Chronic fatigue syndrome . By: Haasini Ravisankar. . The . Death of Fear. . Fear. , 20 days old, passed away on the 20. th. day of this unknown month. Fear’s companion, Sadness, has taken residence for a while as Confusion settles in too. Trickles of Longing now mix in with Confusion. The Death of Fear occurred when Evil did not come but Kindness was in its place instead. Confusion mixed . By: Brittany Wyger, MD (PGY-1). Definition. Group of neuropathic conditions characterized by progressive weakness & dimished or absent reflexes.. Inflammatory neuropathy due to cross reactivity between neural antigens & antibodies induced by specific infections. John Olsen. What is Impostor Syndrome?. Impostor Syndrome is feelings of disarray that happen when information is present and when lies are being told (when the opposite is actually true).. Chhavi Agarwal, MD, FAAP, MRCP (UK). Assistant Professor. Division of Pediatric Endocrinology. Objectives. Metabolic Syndrome. Etiology. Relationship of various components . Primary care setting- Screening for the risk factors . Gizem Şamdan. 05.05.2014. Outline. Savant. . Syndrome. ... is.  a remarkable condition in which . pe. ople. . with autism, . mental handicaps . or major mental illness, have . exceptional. . abilities. Rebecca Morra & Amanda Patterson. Overview. Definition. Diagnosis. Physical Traits. Associated Health Problems. Working with Patients. Fun Facts. Summary. Questions . What is Down Syndrome?. Individual has a complete or partial extra copy of chromosome 21.. Anatomy. Distribution. Signs & Symptoms. Pain – Worse at night. Paraesthesia. – Sparing the . Thenar. Eminence. Weakness and Atrophy of . Thenar. Muscles. Aetiology. Intermittent or sustained high tissue pressure in the Carpal tunnel impairs . Hannah Snyder & Iyanna Glover. Name Of Disorder. The tics. The twitches. Usually . start showing between the age of seven & . ten. M. ales . are 3 times more likely to have TS than . females. Bayu. Lestari. What will be Impaired in This Patient?. Obese. Insulin Resistance?. Dyslipidemia? (High TG, High LDL, Low LDL). T2DM?. Metabolic Syndrome. High prevalence of metabolic . s. yndrome: relation between glucose and lipid metabolism. Food Group Foods to Eat Foods to Limit Meats, Poultry, any made with sweetened fruit Dairy choose low lactose, lactose free dairy if regular dairy is not sweetened ice cream, sweetened Patau’s syndrome: options after a higher chance screening result pregnancyre/screeningfordownsedwardspataussyndrome . This flowchart shows your options. Afulltextdescriptionthispathway is also What is Down Syndrome?. Down syndrome is a condition in which a person has an extra chromosome. . Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. .