ELECTIVE IN PEDIATRICS, GENETICS & TERATOLOGY
AT MASSACHUSETTS GENERAL HOSPITAL, BOSTON USA
Clinical Log
Conditions Seen (date/condition/venue):

August 11th, Proteus Syndrome (ward rounds)
August 12th, Beckwith Wiedermann Syndrome (genetics clinic)
August 12th, Ehlers-Danlos Syndrome (genetics clinic)
August 14th, Maple Syrup Urine Disease (metabolic clinic)
August 14th, Argininosuccinate Lyase Deficiency (metabolic clinic)
August 14th, Ornithine Transcarbamylase Deficiency (metabolic clinic)
August 18th, Tinea Corporis (pediatric clinic)
August 18th, Otitis Media (pediatrics clinic)
August 19th, Phenylketonuria (genetics clinic)
August 19th, Cystic Fibrosis (genetics clinic)
August 21st, Tyrosinemia (metabolic clinic)
August 21st, Sulfite Oxidase Deficiency (metabolic clinic)
August 21st, Geleophysic Syndrome (dysmorphology clinic)
August 21st, Hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome
August 22nd, Soto�s Syndrome (perinatal clinic)
August 22nd, Amyotrophic Lateral Sclerosis (perinatal clinic)
August 22nd, Mitochondrial Complex III Deficiency (perinatal clinic)
August 22nd, Achondroplasia (ward rounds)
August 26th, Prader Willi Syndrome (genetics clinic)
August 26th, Carnitine Palmitoyltransferase Deficiency (genetics clinic)
August 27th, Emery Dreifuss Muscular Dystrophy (genetics clinic)
August 28th, Epilepsy with Mental Retardation (dysmorphology clinic)
August 28th, Stickler Syndrome (dysmorphology clinic)
August 29th, Fragile X (genetics clinic)
August 29th, Robinow�s Syndrome (genetics clinic)
August 30th, Spinal Muscular Atrophy (genetics clinic)
September 2nd, Omphalocele (perinatal clinic)
September 3rd, Duodenal Atresia (perinatal clinic)
September 4th, Laryngeal cleft with hemangiomas (dysmorphology clinic)
September 5th, Mandibulofacial Dysostosis (genetics clinic)
September 5th, William�s Syndrome (genetics clinic)
September 9th, Neurofibromatosis Type I (NF clinic)
September 10th, Familial Cleft Palate (ward rounds)
September 10th, Kabuki Syndrome (ward rounds)
September 11th, Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency (metabolic clinic)
September 12th, Coffin Lowry Syndrome (genetics clinic)
September 12th, Marfan�s Syndrome (genetics clinic)
September 12th, Down�s Syndrome (neonatal examination)
September 14th, Nail Patella Syndrome (ward rounds)
September 16th, Fetal Alcohol Syndrome (ward rounds)
September 17th, Meningomyelocele (ward rounds)
September 17th, Talipes Equinovarus Adductus (ward rounds)
September 17th, Maternal Uniparental Disomy for Chromosome 14 (dysmorphology clinic)
September 18th, Medium-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency (metabolic clinic)
September 18th, Glottic Hypoplasia (ward rounds)
September 18th, Hydronephrosis (ward rounds)
September 19th, Cat-eye Syndrome (genetics clinic)
September 19th, Hypokalemic Periodic Paralysis (genetics clinic)
September 22nd, Truncal Ataxia of unknown cause (ward rounds)
September 23rd, Autism (genetics clinic)
September 24th, Hemorrhagic Stroke / Homocysteinuria (ward rounds)
September 26th, Turner�s Syndrome (perinatal clinic)
September 29th, Neonatal Jaundice (pediatrics clinic)
September 30th, Leigh�s Disease (ward rounds)
October 1st, Huntington�s Chorea (Huntington�s Disease clinic)
October 3rd, Velocardiofacial Syndrome (genetics clinic)
October 5th, Genetic Counselling (perinatal clinic)

Conferences, Symposia & Seminars Attended: (date/event/speaker/venue):

August 15th, �Newborn Screening Conference� @ Massachusetts State Lab, University of Massachusetts.
August 18th, �Antiepileptic Drug Pregnancy Registry Meeting� @ Massachusetts General Hospital East, Charlestown.
August 21st, �Early Risk Assessment Nasal Bone Screening� by Dr A.Nadel @ Perinatal Conference Room, Massachusetts General Hospital.
August 27th, �The Mechanics of Writing a Paper or How to Fill up the White Space� by Dr A.Lin @ the Children�s Hospital Boston
August 29th, �Neonatal Seizures: Metabolic Etiologies & Investigations� by Dr W.H. Tan @ Conference Room, Ellison 17, Massachusetts General Hospital.
September 3rd, �Advanced Genetics Course: Review of Human Genetics� by Dr Jonathan Picker @ Pathology Conference Room, Brigham & Women�s Hospital
September 3rd, �Case Review: Fanconi Anemia & Retinoblastoma� by Genetics Fellow @ Pathology Conference Room, Brigham & Women�s Hospital
September 3rd, �Genetics Poster Presentation� @ Harvard Medical School
September 4th, �Common Birth Defects� by Dr Lewis Holmes @ Conference Room, Ellison 17, Massachusetts General Hospital.
September 5th, �Screening for the Nasal Bone� by Dr A. Nadel @ Meig�s Conference Room, Massachusetts General Hospital
September 8th, �Prenatal Diagnosis� by Dr Lewis Holmes @ Massachusetts Institute of Technology
September 9th, �The VACTERL association and the Sonic Hedgehog Pathway� by Dionysios Grigoratos @ Teratology Conference Room, Brigham & Women�s Hospital
September 9th, �Ethnic variations in the incidence of cleft lip & palate� by Laura Segura @ Teratology Conference Room, Brigham & Women�s Hospital
September 10th, �Advanced Genetics Course: Clinical Cytogenetics� by Dr M.Sandstrom @ Pathology Conference Room, Brigham & Women�s Hospital
September 10th, �Case Review: Fanconi Anemia & Retinoblastoma� by Dr H.Baris @ Pathology Conference Room, Brigham & Women�s Hospital
September 11th, �1st Annual Commercial Human Genetics Research Retreat� @ Massachusetts General Hospital East, Charlestown.
September 11th, �1st Annual CHGR Retreat: Understanding the functions of hamartin & tuberin in the CNS� by Dr V. Ramesh
September 11th, �1st Annual CHGR Retreat: Identifying Susceptibility Genes for Psychiatric Disease in the Portuguese Population� by Dr P. Sklar
September 11th, �1st Annual CHGR Retreat: Parallels between the human and mouse cancer genomes� by Dr L. Chin
September 11th, �1st Annual CHGR Retreat: Why scientists should continue to study rare genetic diseases� by Dr S. Slaugenhaupt
September 11th, �1st Annual CHGR Retreat: PhenoDB � Phenotypic data management for genetic research in complex disorders� by Dr S. Santangelo
September 11th, �1st Annual CHGR Retreat: Neurogenetic disorders � from bench to clinic and back� by Dr K. Sims
September 16th, �Birth Defects Surveillance� by Dr A. Lin @ Teratology Conference Room, Brigham & Women�s Hospital
September 16th, �Fetal MRI is more effective than Ultrasound in detecting CNS abnormalities� by Radiology Department @ Conference Room, Brigham & Women�s Hospital
September 17th, �National Defect Prevention Study Meeting� @ Massachusetts School of Public Health
September 17th, "Common Chromosomal Abnormalities� by Dr Lewis Holmes @ Conference Room, Ellison 17, Massachusetts General Hospital.
September 18th, �Proteus Syndrome Case Review� by Dr W.H. Tan @ Burr Conference Room, Massachusetts General Hospital
September 22nd, �Epigenetic Mechanisms & the Stem Cell Paradigm� @ Cahners Theater, Museum of Science Boston.
September 22nd, �Epigenetic Mechanisms & the Stem Cell Paradigm � Stem cells, nuclear cloning and epigenetic reprogramming� by Dr M. Pazin
September 22nd, �Epigenetic Mechanisms & the Stem Cell Paradigm � RNAi mediated epigenetic control of the genome� by Dr S. Grewal
September 22nd, �Epigenetic Mechanisms & the Stem Cell Paradigm � Functional analysis of chromatin modifying complexes that maintain body pattern� by Dr R. Kingston
September 22nd, �Epigenetic Mechanisms & the Stem Cell Paradigm � Epigenetic mechanisms in the hematopoietic system� by Dr K. Georgopoulos
September 23rd, �Talipes Equinovarus Adductus� by Dionysios Grigoratos @ Teratology Conference Room, Brigham & Women�s Hospital
September 23rd, �Developmental Dysplasia of the Hip� by Dr Hagit Baris @ Teratology Conference Room, Brigham & Women�s Hospital
September 24th, �Neuropediatric Conference Case Study � Truncal Ataxia�by Dr P. Rosenberger @ Conference Room, Ellison 17, Massachusetts General Hospital.
September 25th, �Smoke Free Moms� by Dr A. Cieli @ Burr Conference Room, Massachusetts General Hospital
September 25th, �Fetal Alcohol Syndrome� by Dr J. Stoler @ Cambridge Hospital
September 26th, �IVF� by Dr Paul Lancaster @ Meig�s Conference Room, Massachusetts General Hospital
September 30th,�Clinical Obstetrics Conference: Congenital Infections� by Dr P. Reily @ Four Seasons Hotel, Boston
September 30th, �Clinical Obstetrics Conference: Harmful Fetal Exposures� by Dr L. Holmes @ Four Seasons Hotel, Boston
September 30th,�Pediatric Grand Rounds: William�s Syndrome� by visiting Professor from Yale University @ Old Amphitheatre, MGH
October 1st, �Advanced Genetics Course: Microdeletion Syndromes� by Dr S.Weremowitz @ Pathology Conference Room, Brigham & Women�s Hospital
October 6th, �Case Presentation � Maternal Uniparental Disomy 14� by Dionysios Grigoratos @ Teratology Conference Room, Brigham & Women�s Hospital
Hosted by www.Geocities.ws

1