OBJECTIVE To introduce a simple and quick surgical alternative for creating a neovagina in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome that offers good anatomic and functional results. DESIGN Historical report. SETTING Tertiary center for gynecologic endocrinology. PATIENT(S) Three patients with MRKH syndrome. INTERVENTION(S) The creation of a neovagina according to Wha...

Introduction The spectacular progress of the last decade in field genetics is allowing a new development medicine and ability to make better diagnosis. A great example this diagnosis chromosome 22q11 deletion, which occurs 1:4000 live births. Objectives This case wants illustrate difficulties diagnosis, despite technological advances. Methods Exhaustive review literature Results 38-year-old mal...

BACKGROUND Intellectual Disabilities (ID), defined as a state of developmental deficit, result in significant limitation of intellect and poor adaptation behavior. A number of genetic factors can result in ID, such as chromosomal abnormalities, copy number variation, and single gene defect. Karyotyping is the routine method for detecting chromosomal abnormalities in patients with ID. More recen...

028 Clinical results of arthroscopic repair for incomplete rotator cuff tear Takayuki Sugihara, Tokyo Medical and Dental University Hospital To clear the merits of arthroscopic surgery, we investigated the clinical outcome of the arthroscopic repair on incomplete rotator cuff tears. Thirteen shoulders with incomplete rotator cuff tears were treated by arthroscopy from 2000 to 2005. There were 9...

BACKGROUND We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required becaus...

76 Series: DR. GEORGE H. CHADwIcK .........76 Scientific Books:Spalding's Text-book on Roads and Pavements.8 DR. AuarToqN S. CUSHMAN ......7....7 Scientific Journals and Articles ............ 78 Botanical Notes:Notes on Recent General Papers: PioiFEssoR CHARLES E. BESSEY ......................... 78 Special Articles:Note on Some New Jersey Fishes: HENRY W. Fowrz............................. 79 ...