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2017罕见和未诊断的疾病 Keystone Symposia（2017 Keystone Symposia on Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy）
Genome Sequencing Mendelian Disease Gene Discovery
2017/1/13
The meeting will begin on Sunday, March 5 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Wednesday, March 8 with a closing plenary session...
Why big brains are rare
big brains rare
2017/1/9
As a species, we’re so brain-proud it doesn’t occur to most of us to ask whether a big brain has disadvantages as well as cognitive benefits.“We can think of tons of benefits to a larger brain, but th...
Uterine Perforation With Subtotal Small Bowel Prolapse – A Rare Complication of Dilatation and Curettage
Abortion Conception Mesentery Curettage Jejunum Ileum
2015/8/5
Uterine perforation is the well known complication of induced abortion. We report a rare case of uterine perforation with subtotal prolapse of small bowel following first trimester abortion by an unqu...
Uterine Arteriovenous Malformation As A Rare Cause Of Menorrhagia
Uterine arteriovenous malformation Menorrhagia
2015/7/29
Uterine arterio venous malformation is uncommon cause of menorrhagia. We report a rare case of arteriovenous malformation diagnosed after 18 years of suffering from menorrhagia.
Nasopharynx is an exceptionally rare anatomical location for foreign body impaction. We present a rare case of nasopharyngeal foreign body (NFB) in a 7 years old child. The diagnosis was confirmed by ...
Fallopian tube carcinoma is a very rare malignancy and we report a case of stage IIC primary fallopian tube cancer.
Idiopathic Infantile arterial calcification –A Very rare case
Arterial calcification Infancy Autosomal recessive
2015/7/15
A rare case of Idiopathic Arterial Calcification of Infancy (IACI), inherited as an autosomal recessive disease, is reported.
Appendicocecal Fistula – A Rare Complication of Appendicitis
Appendicitis Fistulae Complication
2015/7/14
Fistulisation of appendix to other organs or to the exterior through abdominal wall is a rare complication of appendicitis. We present one such rare case of appendicocecal fistula due to appendicitis ...
Intercoronary Continuity: A Rare Variant of Coronary Circulation
Intercoronary continuity Collaterals Angiography
2015/7/10
Coronary circulation if significantly diseased usually develop collaterals between the distal portion of the diseased vessel and the normal artery to accomplish flow in vessel distal to the diseased s...
A Rare Case of Post Septic Temporomandibular Joint Ankylosis
Temporomandibular joint disorders Ankylosis Gap arthroplasty
2015/7/10
Temporomandibular joint ankylosis involves fusion of the mandibular condyle to the base of the skull. It is a major clinical problem that affects many patients suffering from facial trauma, infection ...
Himalayan P waves in COPD - A Rare Feature
Himalayan P waves Giant Chronic obstructive pulmonary disease
2015/6/10
Himalayan or giant P-waves (amplitude =5 mm) are often known to be classically associated with congenital heart diseases with right to left shunt like tricuspid atresia, Ebstein anomaly, combined tric...
En Bloc Resection of Coracoid Base Osteoid Osteoma in a Child: An Extremely Rare Case
Osteoid Osteoma Child Resection
2015/10/9
Background: Osteoid osteomas account for approximately 2- 3% of all primary bone neoplasm's sampled for biopsy. 50% of all of them occur in the long bones of the lower extremities, but osteoid osteoma...
Twin Pregnancy of a Complete Hydatidform Mole and a Co-existent Fetus:A Very Rare Case Report
Moles Pregnancy Fetus
2015/10/8
Molar pregnancy is a disorder of chorionic villi including trophoblastic proliferation and villous stromal swelling. One case of molar pregnancy is reported per 1500-2000 pregnancies in USA. Studies s...
Guillain-Barré-like Syndrome,as a Rare Presentation of Adult T-cell Leukemia-Lymphoma (ATLL):A Case Report
Guillain-Barré Syndrome Human T-lymphotropic virus 1 Leukemia-Lymphoma Adult T-Cell
2015/9/28
We report a 21-year-old woman who was admitted because of unilateral facial paresis and then developed progressive ascending flaccid tetraparesis with generalized areflexia. Electrodiagnostic studies ...
Left Ventricular Non-compaction with Associated Anomalies:A Rare Congenital Cardiomyopathy
Left Ventricular Non-compaction Congenital Cardiomyopathy
2015/9/21
A 22-year-old man was admitted with chief complaint of dyspnea on exertion. The patient had a history of operation 10 years ago for coarctation of the aorta. Transthoracic echocardiography showed bicu...