PPT-Ophthalmic manifestation of congenital protein C deficiency

Ophthalmic manifestation of congenital protein C deficiency Dr Shahla ansary peiatric heamatologyonclogist Dr Amir hesabi Assistant pediatric hematologyoncologist Case 1 CC purpura fulminans. Shedding Light on an Ambiguous Subject. Grand Rounds: September 25, 2015. Stephanie Gibson, MD Lisa Knight, MD. PGY-3 Assistant Professor of Clinical Pediatrics USC Pediatric Endocrinology. The most common form of Congenital Adrenal Hyperplasia (CAH) results from a deficiency of which of the following?. T. esticular . F. eminization Syndromes. Dr. Ahmed . Hussain. A. . Mujamammi. Objectives. Adrenal . steroidogenesis. Congenital adrenal hyperplasia syndrome. Types. Biochemical characteristics. Clinical manifestations. definition. requirements. . types of additives. Definition of ophthalmic products. Definition. Ophthalmic preparations (eye preparations) are sterile, liquid, semi-solid, or solid preparations that may contain one or more active pharmaceutical ingredients or drugs used for application to the conjunctiva, the . Department of pediatrics. Background. Malabsorption. syndromes encompass a number of different clinical entities that result in chronic diarrhea, abdominal distention, and failure to thrive. Clinical . Symposium. March . 31, 2016. Inborn Errors of Metabolism:. Metabolomics. Gerard T. Berry, MD. Professor of Pediatrics, Harvard Medical School. Director, Metabolism Program. , . Boston Children’s Hospital. RBC enzymopathies. Abnormalities of RBC enzymes cause Hereditary . N. onspherocytic. Hemolytic . A. nemia(HNSHA). As RBCs mature they lose their nucleus, mitochondria and other organelles which causes them to not be able to carry out oxidative phosphorylation and protein synthesis. . Pediatric gastroenterology, . hepatology. and nutrition. Q1. . Mention six signes and . symptoms. of malabsorption .  . Q2. . Name two screening tests for protein loosing . enteropathy. . Q3. . . *Umbilical hernia. *Umbilical granuloma. *Umbilical polyp. Ambiguous . genitalia, . is any case in which the external . genitalia . do not appear . completely male . or completely female. .. . Definitions . 21-Hydroxylase Deficiency. References . Pediatric Practice ENDOCRINOLOGY. (Michael S. . Kappy,MD,PhD. ). An Endocrine Society Clinical Practice Guideline. WILLIAMS Textbook of Endocrinology. 29 July 2020 . Outline . Congenital Hypothyroidism. Diabetes Mellitus. Short stature. Congenital adrenal hyperplasia . Congenital hypothyroidism. Hormones of the thyroid gland. Tetriiodothyronine. T4( Thyroxin). PGS TEKNOLOJİLERİ. FISH ANALİZİ. NGS. ARRAY-CGH. 8-12 Kromozom tarar. Öploid. embriyo seçiminde sınırlıdır. 24 kromozom tarar. IVF başarısını arttırır. Son teknoloji. Güvenirliliği yüksek. 1 Factor X deficiency Description Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, al ypotonia Clinical Approach to Floppy Baby H ypotonia in the newborn is a common presenting feature of systemic illness or neurologic dysfunction at any level of the central or peripheral nervous R Campbell Heron. Chemical Pathology Registrar. LabPLUS, Auckland. Outline. What is . α. 1. -Antitrypsin (A1AT)?. Causes of Deficiency. Clinical Impact. Epidemiology. Diagnosis. Case. Management. What is A1AT?.