Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Placental site trophoblastic tumour (PSTT) is a very rare and unique form of gestational trophoblastic disease (GTD). This tumour represents a neoplastic transformation of intermediate trophoblastic cells that normally play a critical role in implantation. PSTT can occur after a normal pregnancy, abortion, term delivery, ectopic pregnancy or molar pregnancy. It displays a wide clinical spectrum, and when metastatic, can be difficult to control even with surgery and chemotherapy. Unlike other forms of GTD, PSTT is characterized by low beta-hCG levels because it is a neoplastic proliferation of intermediate trophoblastic cells. Expression, however, of human placental lactogen (hPL) is increased on histologic section as well as in the serum. The most common presenting symptoms of PSTT are vaginal bleeding and amenorrhoea. Diagnosis is confirmed by dilatation and curettage (D and E) and hysterectomy but meticulous evaluation of metastasis is mandatory. Most cases are confined to the uterus but pelvic involvement, lung and other organ metastasis has been reported. Unlike other forms of GTD, the WHO prognostic score is of little help. For the PSTT patient, surgery is the primary treatment of choice. For patients desiring future childbearing, D and C and adjuvant chemotherapy is an option. Because these tumours tend to be less sensitive than other types of GTD to chemotherapy, the most successful regimen to date has been with EMA/CO or EMA/EP. Good prognosis is anticipated in cases localized to the uterus, and when the interval between antecedent pregnancy and treatment is less than 2 years. In cases with distant metastasis or delayed treatment, the outcome is dismal. Advances in chemotherapeutic regimens have improved clinical reponse in metastatic disease.
 ...
PMID:Placental site trophoblastic tumour. 1461 93

A 32-year-old para 3 patient is presented having suffered from a silent uterine rupture on the occasion of her second and third Caesarean sections. After the third Caesarean section, there was light uterine bleeding whilst the patient breastfed for five months. Amenorrhoea then ensued due to oral contraception. Regular clinical and ultrasound checks revealed negative serum beta-HCG values and retrovesicular resistance, which increased in size after 18 months and became symptomatic. Because the patient's family was complete, abdominal hysterectomy without adnexectomy was performed. Histology revealed a placental site trophoblastic tumour (PSTT). This is a rare tumour with malignant potential, whose prognosis depends on the stage of the primary tumour, the period of time between the last pregnancy and onset of disease, the patient's age, and the rate of mitosis, and whose progress cannot be assessed using the WHO Prognostic Index Score for Gestational Trophoblastic Disease. In therapeutic terms, hysterectomy is recommended. Chemosensitivity is low and, due to the infrequency of the tumours, the most suitable chemotherapy scheme is unknown. In the case of metastasising or recurrent PSTT, the EP/EMA regime has proved to be most effective.
 ...
PMID:[Placental site trophoblastic tumor: case report and review of literature]. 1854 19

We report the case of a voluminous tumor of the adrenal diagnosed in a young pregnant woman at 26(th) week of amenorrhea. Morphologically, a soft white tumor with haemorragic areas was observed, made of sheets of monomorphous, medium sized, spindle-shaped to polygonal, with high mitotic activity. Tumorous cells expressed cytokeratins AE1/AE3, EMA, and CD99 (expression of vimentin is not relevant). Contemplated diagnoses included poorly differentiated synovialosarcoma, sarcomatoid carcinoma and Ewing tumor. Thanks to molecular biology, showing the specific transcript of Ewing/peripheral primitive neuroectodermal tumor (pPNET) EWS/FLI1, the diagnosis of this atypical tumor in an unusual location was performed. Indeed, 75% of Ewing tumors involve bones (especially, the diaphysis of long bones) and 20 to 25% soft tissues. Primitive visceral involvement is rare; less than 10 cases of adrenal involvement have been reported. The hypothesis that Ewing cell's origin is a mesenchymal stem cell, which may derive from neural crest cell, could explain the uncommon adrenal involvement. Diagnosis of Ewing tumor is based on pathologic and molecular findings, especially in atypical cases.
 ...
PMID:[An unusual adrenal tumor: Ewing tumor]. 2134 85

The authors describe a case of paraganglioma of the sellar region in a young female patient with loss of vision and headache. She presented with amaurosis, depression, anxiety and amenorrhea. Clinical and radiological impression was that it was a meningioma or pituitary adenoma. She received bromocriptine with no reduction of the lesion. She developed panhypopituitarism, but with normal levels of prolactin. It was resected and histological examination revealed nests of large cells with moderate nuclear pleomorphism, vesicular nuclei with occasional nucleoli. There were rare mitotic figures, but no necrosis. Immunohistochemistry was positive for synaptophysin, chromogranin A, and neuron-specific enolase with a few sustentacular cells positive for S100. The Ki67 proliferation was 1-2%. All pituitary hormonal antibodies were negative as well as GFAP, AE1/AE3, p53 and EMA. Paragangliomas affecting the sellar region are extremely rare and might be due to the presence of remnants of paraganglionic tissue or abnormal migration. The patient's post-operative diabetes insipidus remains under medical control.
 ...
PMID:33 year-old woman with a large sellar tumor. 2305 Aug 74

The core phenotype of anorexia nervosa (AN) comprises the age and stage dependent intertwining of both its primary and secondary (i.e., starvation induced) somatic and mental symptoms. Hypoleptinemia acts as a key trigger for the adaptation to starvation by affecting diverse brain regions including the reward system and by induction of alterations of the hypothalamus-pituitary-"target-organ" axes, e.g., resulting in amenorrhea as a characteristic symptom of AN. Particularly, the rat model activity-based anorexia (ABA) convincingly demonstrates the pivotal role of hypoleptinemia in the development of starvation-induced hyperactivity. STAT3 signaling in dopaminergic neurons in the ventral tegmental area (VTA) plays a crucial role in the transmission of the leptin signal in ABA. In patients with AN, an inverted U-shaped relationship has been observed between their serum leptin levels and physical activity. Albeit obese and therewith of a very different phenotype, humans diagnosed with rare congenital leptin deficiency have starvation like symptoms including hypothalamic amenorrhea in females. Over the past 20 years, such patients have been successfully treated with recombinant human (rh) leptin (metreleptin) within a compassionate use program. The extreme hunger of these patients subsides within hours upon initiation of treatment; substantial weight loss and menarche in females ensue after medium term treatment. In contrast, metreleptin had little effect in patients with multifactorial obesity. Small clinical trials have been conducted for hypothalamic amenorrhea and to increase bone mineral density, in which metreleptin proved beneficial. Up to now, metreleptin has not yet been used to treat patients with AN. Metreleptin has been approved by the FDA under strict regulations solely for the treatment of generalized lipodystrophy. The recent approval by the EMA may offer, for the first time, the possibility to treat extremely hyperactive patients with AN off-label. Furthermore, a potential dissection of hypoleptinemia-induced AN symptoms from the primary cognitions and behaviors of these patients could ensue. Accordingly, the aim of this article is to review the current state of the art of leptin in relation to AN to provide the theoretical basis for the initiation of clinical trials for treatment of this eating disorder.
 ...
PMID:Clinical Trials Required to Assess Potential Benefits and Side Effects of Treatment of Patients With Anorexia Nervosa With Recombinant Human Leptin. 3115 89