Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Most of the surgical cases were under the care of the Surgeon Robert William Parker, who was on the staff of the East London Hospital for Children, Shadwell. He was born in 1842 and qualified in 1869, and after working at the London Hospital he served with distinction as a volunteer with the Anglo-American Ambulance in the Franco-Prussian War 1870-1871. Then he became Resident Medical Officer at the Children's Hospital, 49 Great Ormond Street, and later in 1876 joined the staff of the Shadwell Hospital and was an active member of several London medical societies at which he presented surgical topics and cases of paediatric interest. Also, having a knowledge of German and French, he translated several surgical works from the continent. This miscellany of sketches drawn by a Nurse Reeve in 1883-1887 consists of the following: first, talipes and genu recurvatum. Each supposed to be caused by their intrauterine position; flexion contractures of the knee and equinus deformity due to poliomyelitis; lesion, such as amniotic band of the fingers, naevus of the forearm and warty lesion of the finger; skin contracture of the wrist following burns; absence of the lower ends of the radiui; two fatal cases of cancrum oris (noma) following measles; one of cleft palate and lip; three drawings of malignant disease of the thigh and face; finally strumous dactylitis and cyst of the neck.
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PMID:Sketches of surgical cases drawn in 1884-87 at the East London Hospital for Children, Shadwell. 309 79

The PI3K/AKT/mTOR signaling pathway is significantly activated in rheumatoid arthritis. In addition, somatic activating mutations of the PI3K/AKT/mTOR pathway may result in PIK3CA-related overgrowth spectrum diseases, including CLOVES (Congenital Lipomatous Overgrowth, Vascular malformation, Epidermal nevi, Skeletal abnormalities/Scoliosis) syndrome. We describe the case of a young female patient, with anti-citrullinated peptide antibodies-positive rheumatoid arthritis, referred for persistent finger pain and stiffness. Examination revealed discrete macrodactyly involving two fingers, scoliosis, asymmetrical calves, venectasias, a shoulder nevus and triangular feet with a "sandal gap" between two toes. These mild dysmorphic features with early-onset and the history of surgeries for thoracic lipoma and venous malformation were strongly suggestive of CLOVES syndrome. Confirmatory mutation analysis was not performed, as blood or saliva testing is not contributive for tissue-specific localized effects in the PIK3CA-related overgrowth spectrum. Nevertheless, lack of detection of a PIK3CA mutation does not exclude the diagnosis in patients fulfilling clinical criteria. Due to the patient's wish to plan a pregnancy, therapy consisted in sulfasalazine and hydroxychloroquine, along with orthotic correction of leg length discrepancy. Overgrowth syndromes and arthritis may share common pathways. Mild macrodactyly should be differentiated from dactylitis. Diagnosing patients with minimal dysmorphic features within the PI3K-related overgrowth spectrum may help design better care strategies, in the quest for personalized medicine.
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PMID:Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis. 3266 56