Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0027960 (
mole
)
21,279
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The purpose of this study was to establish the incidence of carcinomas in children, changes in incidence over a 30-year period, and to identify features of possible aetiological significance. A total of 173 cases were identified, but after review of the histopathology, 30 patients were excluded because they were considered to have benign epithelial tumours or malignant tumours of nonepithelial origin. Seven other cases were excluded because pathology material was not available. Overall, in 28% of cases, the diagnoses were changed by pathology review. Thus, 136 children in the West Midlands Region diagnosed 1957-1986 were included, with carcinoid tumours (44) and tumours of skin (22), nasopharynx (14), salivary gland (13), adrenal cortex (13), thyroid (9), large bowel (5), other (16). Excluding carcinoids, the age-standardised incidence rate was 2.4 x 10(6) per year. Male:female ratio was 0.7:1 and 66% were aged > 10 years. Incidence increased from 1.5 to 3.3 x 10(6) per year. Genetic factors predisposing to carcinoma included tyrosinosis, MEN II and III,
congenital adrenal hyperplasia
and basal cell
naevus
syndrome. There was a case of Li-Fraumeni syndrome and several other patients had relevant family histories. Probable "environmental" causes included antenatal exposure to stilboestrol or hydroxyprogesterone hexanoate, stilboestrol given for premature menarche, neonatal hepatitis and prior radiotherapy. The aetiology of carcinomas in children is multifactorial, both genetic and environmental factors being important. The incidence is increasing.
...
PMID:Malignant epithelial tumours in children: incidence and aetiology. 851 22
To elucidate the pathogenesis of posterior embryotoxon, we estimated its incidence in our clinic and evaluated its associated ocular and systemic anomalies. Slit-lamp and gonioscopic examinations were performed on 440 randomly selected patients at Nagoya City University Hospital over a 10-month period. Posterior embryotoxon was detected in 107, 50 bilateral and 57 unilateral, cases (24.3%). Twelve (11.2%) of the 107 cases had open-angle glaucoma. Accompanying ocular anomalies included six cases of sclerocornea, two each of persistent pupillary membrane and familial exudative vitreoretinopathy, and 1 each of melanocytoma of the optic nervehead, choroidal
nevus
and subconjunctival dermoid cyst. Associated systemic anomalies included three cases of Alagille syndrome, two of congenital biliary atresia, and one each of congenital facial palsy with microtia,
congenital adrenal hyperplasia
, empty sella syndrome, Hirschsprung disease and Wilson disease. Many of these ocular and systemic anomalies were caused by the maldevelopment of neural crest cells. Patients with posterior embryotoxon should be examined for the possible presence of open-angle glucoma and for ocular and systemic anomalies related to maldevelopment of neural crest cells.
...
PMID:Clinical evaluation of posterior embryotoxon in one institution. 950 11
A 32-year-old woman with classical
congenital adrenal hyperplasia
(
CAH
) secondary to 21-hydroxylase deficiency presented with infertility. She was treated with different steroid replacement regimens together with fludrocortisone. The aim of this case report is to discuss fertility barriers in women with classical
CAH
, and emphasise the risks and benefits of available steroid treatment options. Clinical considerations covered include preconception health and fertility planning, optimising fertility through suppression of excess hormone production, reducing fetal androgen exposure in utero and limiting maternal and fetal side effects of therapy and limiting chances of
CAH
in the baby. In this case suppression of androgen and progesterone levels was challenging but eventually was achieved and resulted in a spontaneous pregnancy. However, she miscarried in the first trimester, and fetal biopsy revealed a complete hydatiform
mole
. She is advised not to conceive while she is under investigation to determine the extent of the disease.
...
PMID:Congenital adrenal hyperplasia and pregnancy. 2391 62