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Biomedical subjects

L Castro

Publications and source records attributed to L Castro.

98 records · Page 6Linked to original sources

Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during embryonic development, has been noted in Klippel-Feil, as in Moebius and Poland sequences. A combination of defects (Klippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck's syndrome.

Abnormalities, Multiple↗

Synchronic signet ring carcinoma and adenocarcinoma complicating extensive and long-standing ulcerative colitis.

We report the case of a 38 year-old woman with extensive ulcerative colitis (UC) for 9 years that had consistently been under close endoscopic surveillance. She had had two previous severe attacks requiring hospital admission, with good response to intravenous steroids. In the last relapse, a total colonoscopy demonstrated extensive lesions of UC throughout the entire colon. Multiple biopsies taken every 3 cm revealed only low-grade dysplasia and lesions characteristic of UC. Due to medical therapy failure, the patient was submitted for proctocolectomy. Pathological examination of the resected specimen showed a signet ring carcinoma and a synchronic adenocarcinoma in the sigmoid colon, both undetected by colonoscopy and biopsies. The issue of surveillance in patients with extensive and long-standing UC is discussed.

Adenocarcinoma↗

[Craniopharyngiomas. Clinicopathological aspects in different age groups].

Craniopharyngiomas are rare brain tumors of the hypothalamo-pituitary region, developing from embryonic remnants of Rathke's pouch and sac. Their overall incidence is 0.13 per 100,000 person years. Most frequently, they are suprasellar, start growing in childhood and originate neurological and hormonal symptoms. We retrospectively studied patients treated in our institution for craniopharyngioma in the last 10 years, in order to evaluate their clinical, imaging and pathological characteristics. Of the 32 patients analysed, 18 were females and 14 males with ages ranging between 6 and 81 years (early onset group--EOG aged 5-14 years: 7 patients; middle age onset group--MAOG aged 15-49 years: 15 patients; late age onset group--LOG aged > or = 50 years: 10 patients). Visual impairment was the most frequent presenting clinical feature in EOG (71.4%) and MAOG (86.6%), while in the LOG personality and cognitive changes including memory loss predominated (60%). Headaches were very frequent in all groups (EOG 42.8%, MAOG 60%, LOG 40%). Meningitis and seizures were presenting features, each in one patient. Regarding endocrine symptoms and signs, growth failure was present in 57.2% of the EOG. Amenorrhea was present in 5 of 10 female patients of the MAOG. Preoperatively, TSH was deficient in 25%, ACTH in 15.6% and gonadotropin in 25% of the patients. There were no cases of diabetes insipidus. Preoperative CT and MR revealed a calcified mass in 12 (37.5%), a partially cystic mass in 20 (62.5%) and a lesion involving or extending into the third ventricle in 7 (21.9%) patients. Twenty seven (84.4%) patients were treated primarily by surgery. In 4 (12.5%) cases the tumour was considered inoperable and 1 (3.1%) patient refused surgery; all were in the LOG. Surgical approach was transsphenoidal in 2/27 (7.4%) (all of them in the LAOG) and by craniotomy in the others. The tumour removable was considered complete in 10 (37%--EOG 2/7, MAOG 6/15, LOG 2/5) and subtotal in 17 (62.9%) patients. Eight (29.6%) patients were reoperated for recurrent tumour. Postoperative radiotherapy was administered in 12 cases with residual tumor, and 3 inoperable tumors were treated primarily by conventional external radiotherapy. Pathological study revealed the adamantinomatous type in 25 (92.6%) and the papillary type in 2 (7.4%--all men in the MAOG) tumors. The average follow-up was longer in the EOG (82.6 +/- 40.7 months) than in MAOG (57.2 +/- 48.5 months) and in LOG (48 +/- 92 months). Four (12.5%) patients died, 1 during the follow-up period due to a radiation-induced astrocytoma and 3 in the postoperative period because of cerebral hemorrhage and hydrocephalus (1 in the EOG and 2 in the LOG). In summary, we found the clinical presentation to be different in the 3 age groups, with a large number of patients in the MAOG. In this group were the only examples of the papillary form. Better prognosis was associated with a total resection at initial surgery.

Adolescent↗

Alpha-chain disease, schistosomiasis and toxoplasmosis: a case report in Brazil and follow-up for 5 years.

A case of alpha-chain disease associated with schistosomiasis mansoni and radiological and immunological findings suggestive of toxoplasmosis is reported. This patient has been followed-up for five years and is in clinical remission while taking tetracycline, prednisone and cyclophosphamide. This first report of alpha-chain disease in Brazil emphasizes certain common features of the various report of alpha-chain disease like the low socio-economic background of all individuals, and all living in areas where parasitic infections are endemic. A discussion of the probable etiopathogenesis of the disease is also presented.

Adolescent↗

[Second tumors in pediatric oncologic patients. Report of 5 cases].

The dramatic progress observed in the survival of children treated for cancer in the last two decades due to the use of aggressive chemotherapy and radiotherapy has brought an increased incidence of second malignant tumors. Five clinical cases of second malignant neoplasms after a period of six months to seventeen years after diagnosis are presented. The second tumors observed were: one patient with malignant fibrous histiocytoma of the orbit after treatment bilateral retinoblastoma; one patient with multifocal osteosarcoma after cerebelli medullo-blastoma; one patient with Ewing's sarcoma of the fibula after neuroblastoma of the adrenal gland; one case of carcinoma of the thyroid gland after osteosarcoma of the femur and one patient with acute lymphoblastic leukemia after been treated of osteosarcoma of the femur. The genetic, immunologic and therapeutic risk factors are reviewed and analyzed.

Adolescent↗

[Lymphatic metastases of osteosarcomas].

Osteosarcoma lymph node metastasis are uncommon. This paper shows two patients having osteoblastic osteosarcoma with loco-regional lymph node involvement. In the first case two inguinal and pelvic adenomegalies were found to have tumor metastasis two years and a half after initial diagnosis in a control radiological study. Currently the patient is alive three months after the lymphadenectomy. In the second case, several inguinal high density tumoral nodules were identified during the workup of primary tumor.

Amputation, Surgical↗