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Biomedical subjects

S Amram

Publications and source records attributed to S Amram.

12 recordsLinked to original sources
PubMed1997

[Stereotactic core biopsy of breast microcalcifications. Aid to diagnosis?].

We assessed the accuracy with which stereotactic core biopsy of breast microcalcifications helps to justify follow-up or indicate required surgical planning. Eighty-nine patients underwent stereotactic breast biopsy performed with large core needles. Histopathologic findings of microbiopsies were correlated with radiological findings, with follow up and with surgical findings. Agreement between radiological and histopathologic findings on biopsies was obtained in 86% for benign results. Even in the case of benign radiological findings, the histological results of microbiopsies required a surgical biopsy justified in 10% of cases. Radiologically suspicious or malignant microcalcifications were correlated with 35% benign and 65% malignant histologies on biopsies. The positive predictive value, negative predictive value and accuracy were respectively 93%, 86% and 95%. Invasive lesions were found on microbiopsies in 39% of excised malignant lesions. Multifocal lesions were proved on microbiopsies in 50% of all excised carcinomas. Microbiopsies help to disclose malignant lesions undetected on radiological analysis, and may obviate diagnostic surgical biopsy in many cases.

Adult↗
PubMed1995

[A rare complication of multiple exostoses: hemothorax].

BACKGROUND: Hemothorax is a rare complication of hereditary multiple exostosis. CASE REPORT: A 12 year-old boy suffered from abrupt thoracic pain, firstly attributed to pleural effusion. He had hereditary multiple exostosis known since the age of 9 years. The patients was given anti-inflammatory drugs and erythromycin but the pleural effusion became more abundant 6 days later requiring thoracentesis which showed hemothorax. All bacteriological and cytologic investigations were negative. X rays, ultra-sonography and CT scan showed several costal exostoses developing into the thoracic cavity. The hemothorax disappeared within 12 days and the patient was well 4 months later, without pleural sequelae. CONCLUSIONS: Hemothorax may be due to internal costal exostosis. It may be cured with thoracentesis; more aggressive therapy should be performed in exceptional cases with severe and/or recurrent bleeding.

Child↗
PubMed1995

[Solid breast nodules: reliability of ultrasonographic and cytological studies].

The authors evaluated the usefulness of US study and US guided fine-needle aspiration cytology (FNAC) in 144 solid breast lesions. US studies was performed with a 10-MHz transducer. Homogenous hypoechogenicity, elongation along the general orientation of the breast tissue plane, regular margins, and intensification of posterior echoes were considered as benign signs. US guided FNAC was performed when lesions were depicted at US. The smears were performed immediately by the cytologist who was present during the procedure. US signs and FNAC diagnoses were compared with surgical/core biopsy diagnoses or negative imaging follow-up. The sensitivity of US was 93%, specificity 75%, accuracy 81%. Among 41 malignant lesions the cytologic findings were malignant (n = 26) or suspicious (n = 7) with 1 false positive and 2 false negative. Inadequate samplings were less frequent last year study (13.5%). The sensitivity of cytologic diagnosis was 94%, specificity 85%, and accuracy 88%. US study and FNAC could be helpful in evaluating solid breast lesions. A better accuracy may be obtained if FNAC is associated with core biopsy.

Adult↗
PubMed1994

Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)

In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene. Direct sequencing showed a G-A point mutation at position 2818 of exon 7, which was responsible for an arginine-histidine substitution at position 840 of the androgen receptor. In this family, the proband's mother became pregnant and wished to know whether she was carrying an unaffected fetus. Polymerase chain reactions of the sex-determining region of the Y chromosome (the SRY gene) on trophoblastic DNA at week 14 revealed a 46,XY genotype. Sequencing analysis showed the canonical sequence (CGT, encoding an Arg residue), suggesting that the fetus was not affected. The expectation of normal male sexual development was confirmed by detection of normal male external genitalia through ultrasonography at week 24. These data confirm that sequence analysis of the androgen receptor gene on trophoblastic DNA is the most reliable method for prenatally diagnosing or excluding androgen insensitivity syndrome in high-risk families.

Base Sequence↗
PubMed1993

[Desmopressin and water intoxication. Apropos of a case treated for enuresis].

A 4-year-old boy was treated with oxybutinine and desmopressine because of bladder instability associated with secondary enuresis. He was admitted with obnubilation, vomiting and experienced two seizure episodes concomitantly with hyponatremia and hypoosmolality. The child healed promptly under water restriction and intravenous administration of sodium chloride. This case report suggests that desmopressine may be responsible for severe side-effects. This drug should not be widely used and its indications should be restricted to patients with proven antidiuretic hormone secretion abnormalities.

Child↗
PubMed1993

[Familial form of partial androgen insensitivity (Reifenstein syndrome): arginine-histidine mutation in position 840 in the androgen receptor].

In a large kindred with Reifenstein syndrome, we performed the molecular analysis of the androgen receptor gene. Since the biochemical characteristics of the androgen receptor, determined on the cultured genital skin fibroblasts, showed a drastic decrease of the androgen binding capacity, we assumed that a point mutation was located in exons 4-8 encoding the carboxy-terminal domain of the receptor. Enzymatic amplifications of these exons did not point out any deletions. Direct sequencing showed a G-A point mutation at position 2818 of exon 7 responsible for an arginine-histidine substitution at position 840 of the androgen receptor. The presence of the same mutation has been reported by other groups in four unrelated patients. Its association with different phenotypes of androgen insensitivity and different biochemical characteristics of the androgen receptor pointed out the complexity of the genotype-phenotype relationship in androgen insensitivity. Moreover the identification of the point mutation gave us the opportunity to perform a prenatal exclusion diagnosis of Reifenstein syndrome in this high-risk family.

Arginine↗
PubMed1986

[C-reactive protein and orosomucoid determinations in a neonatal pathology unit].

We report the result of CRP and ORM assays performed at the admission in the unit, in 157 neonates (NN). The NN were divided into 3 groups: 122 "controls" (group I), 21 having septicemia with or without meningitis but with symptoms of infection (group II), 16 having a positive blood culture without symptom of infection (group III). In group I, the CRP level does not depend on gestational age at birth, neither on the age at the assay. The level of ORM depends on both factors. Neonatal infection leads to a very significant rise of the CRP rate (often above 100 mg/l). The rise of ORM is not so dramatic. These data suggest that the assay of these two proteins are useful in the diagnosis of neonatal infection if they are performed together and at several times.

Bacterial Infections↗
PubMedDate not supplied

[Endocrine arterial hypertension. Pheochromocytoma].

The authors emphasize some embryologic features of the chromaffin tissue as a basis of understanding of both the physiopathologic and clinical aspects of Pheochromocytoma. The appropriate sequence of diagnostic procedures was established in order to obtain clinical, biochemical and anatomical evidence of the tumor. It was concluded that an early diagnosis is mandatory in order to plan a curative surgical therapeutic approach. The embryologic and biochemical understanding of the Pheochromocytoma, in the context of the neuroendocrine tumors, allows a better rationale both for the diagnosis and therapy of this condition.

Adrenal Gland Neoplasms↗