Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An interstitial deletion in chromosome 7(p13p15) detected in amniotic fluid cells is presented. After termination, the fetus was noted to have an asymmetrical skull, low set ears, a flattened nose, bifid thumbs and right big toe, pyloric adenomyosis, hypospadias, and simian creases. A brief comparison is made with previously reported cases involving deletions of 7p, including those associated with craniosynostosis.
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PMID:Interstitial deletion of chromosome 7p detected antenatally. 404 64

A 46-year-old woman presented to the emergency department with abdominal pain and abnormal uterine bleeding over the last year. She had a history of failed cyclic progesterone with tranexamic acid over the last 3 months to control her bleeding attacks. She had a tender pelvi-abdominal mass of 28 weeks' gestation size. Therapeutic curettage was performed, followed by correction of her iron deficiency anemia with intravenous iron. The trans-abdominal ultrasound of the pelvi-abdominal mass showed asymmetrical myometrial thickening, predominantly its anterior wall, with myometrial hyperechoic regions surrounded by hypoechoic areas suggestive of adenomyosis uterus for magnetic resonance imaging (MRI) evaluation. The MRI evaluation confirmed the diagnosis of adenomyosis uterus and showed diffuse asymmetrical uterine adenomyosis, predominantly its anterior myometrial wall, with an ill-defined endo-myometrial junction. Total abdominal hysterectomy with bilateral salpingectomy and bilateral ovarian conservation was performed after departmental approval and the patient's consent. The routine pre-operative investigations were completely normal except the cancer antigen (CA-125) which was unexpectedly high (1658 and 1046 IU/ml repeated twice two days apart). The histological examination of the surgical removed uterus confirmed the diagnosis of adenomyosis uterus and the pre-operative high CA-125 decreased to 22 IU/ml (normal range 0-35 IU/ml) one week after surgery.
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PMID:Severe adenomyosis with unexpectedly high CA-125: report of a rare case. 3310 Sep 51