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At least 1,369 records · Page 76Linked to original sources
PubMed1998

Central neurocytoma: a correlative clinicopathologic and radiologic analysis.

BACKGROUND: Central neurocytoma was described as a well differentiated tumor of neuronal origin, distinct from ganglion cell tumors and neuroblastoma. An initially perceived benign biologic behavior has been questioned by subsequent reports of anaplastic and recurrent tumors. We report six cases of central neurocytoma, with variable clinical and pathologic features that stimulate discussion on the management of these tumors. METHODS: Of the 95 oligodendrogliomas treated in our institution in the last 40 years, three tumors were reclassified as central neurocytomas on histologic reappraisal. Three additional cases prospectively diagnosed as central neurocytomas are reported. The clinical, pathologic, and radiologic features are reviewed. RESULTS: Early recurrence, not related to malignant histologic features, was noted in two patients who had not received postoperative radiotherapy. Anaplastic histologic changes were not accompanied by malignant biologic behavior in another patient. Neither patient with recurrent tumor was controlled by radiotherapy alone. Chemotherapy with carboplatin reduced tumor size temporarily in one of these patients. CONCLUSION: An entirely benign nature for this tumor is questioned and it appears that there may be malignant variants. Surgery should aim for maximum possible excision, as the location of the tumor allows. The role of postoperative radiotherapy remains controversial and may be considered in cases of subtotal excision of tumors with anaplastic histologic features. Chemotherapy may be of benefit in cases recurring despite surgery and radiotherapy.

Adolescent↗
PubMed2006

Observations on the presence of E domain variants of estrogen receptor-alpha in the breast tumors.

BACKGROUND AND OBJECTIVES: Estrogen receptor-alpha (ER-alpha) that exists as multiple splice variants, has been widely used as a prognostic marker in the management of breast cancer. Here we have analyzed the hormone binding E domain splice variants of ER-alpha in the breast tumors with reference to the immunoreactive receptor. METHODS: Thirty breast cancer patients undergoing surgery at the All India Institute of Medical Sciences, New Delhi, were analyzed for the splice variants of E domain by RT-PCR. The ER level was determined by ELISA and the samples were considered positive if the receptor levels were >or= 15 fmol/mg protein. RESULTS: Our results show that exon 4 and 5 deletions were prevalent in both ER-positive and ER-negative categories. While most ER-positive cases expressed wild-type (wt) exon 6 + 7, nearly 40% of ER-negative cases showed deletion of exon 6 + 7. Therefore, deletion of exon 6 + 7 or masking of epitopes could lead to underestimation of ER by ELISA. All the metastasis and recurrence cases had undetectable levels of ER. A significant number of node-positive cases expressed immunoreactive ER and wt exon 6 + 7 (r = 0.509, P < 0.37). CONCLUSIONS: Estimation of ER levels combined with composite analysis of ER variants may be a better prognostic marker for breast cancer.

Breast Neoplasms↗
PubMed1998

Necrotizing bronchial aspergillosis as a cause of hemoptysis in sarcoidosis.

The case history is presented of a patient with recurrent massive hemoptysis caused by necrotizing bronchial aspergillosis associated with sarcoidosis. The involved segments (right IX and X) were resected for treatment of the life-threatening hemoptysis. Histologic examination of the resected specimen confirmed the diagnosis. Necrotizing bronchial aspergillosis is a rare variant form of invasive pulmonary aspergillosis and has not been described previously as a cause of hemoptysis in sarcoidosis.

Aspergillosis↗
PubMed2004

BRAF mutations in an Italian cohort of thyroid cancers.

OBJECTIVE: Recently, a somatic point mutation of the BRAF gene (V599E) has been identified as the most common genetic event in papillary thyroid carcinoma (PTC) with a variable frequency (about 25-70%) in different series from USA, Japan, Portugal and Ukraine. DESIGN: In the present study, the genetic analysis of BRAF in an Italian cohort of 65 thyroid tumours with corresponding normal tissues and 21 thyroid benign disorders is reported. METHODS: For BRAF analysis, the somatic DNA was PCR amplified by means of specific intronic primers and PCR products were directly sequenced. Statistical analyses were obtained by means of Fisher's exact test. RESULTS: All mutations detected involved a T > A transversion at 1796 (V599E) and were heterozygous. Overall, BRAF(V599E) mutation was found in 18/56 (32.1%) PTCs. According to the histological type of the tumour, the mutation was present in 38.3% of cases of conventional PTC (18/47), in 0/6 follicular variant of PTC, in 0/3 oncocytic variant of PTC. No BRAF mutations were detected either in five follicular carcinomas, or in four poorly differentiated or undifferentiated cancers or in benign thyroid disorders. No statistically significant correlation of BRAF mutation with patient age and gender, with multicentricity of the tumour, with the lymphocytic infiltration of the tissue, with the stage and with the recurrence rate, was found. BRAF(V599E) tended to be associated, although not significantly, with a greater volume and extension of the tumour and with lymph-nodal metastases at surgery. CONCLUSIONS: In conclusion, the present study on the first Italian series of thyroid cancers shows a frequency of 38.3% of BRAF(V599E) in the classical variant of PTC, confirming the key role of this mutation in promoting tumourigenesis.

Adult↗
PubMed1979

Recurrence of Prinzmetal angina seven years following aortocoronary bypass surgery: a clinical and angiographic follow-up.

A patient with Prinzmetal angina and ST segment elevation in the anterior ECG leads became asymptomatic after a 50% left anterior descending coronary artery stenosis was bypassed. However, seven years later Prinzmetal angina recurred but with ST segment elevation in the inferior ECG leads. Although the coronary bypass graft had remained patent, the proximal and distal left anterior descending coronary artery was occluded. No significant stenosis was present in the right coronary artery. Perhexiline maleate controlled his symptoms but when the drug was stopped because of side effects an acute inferior myocardial infarction occurred.

Adult↗
PubMed1987

[Patterns in the recurrence and transformation of alcoholic psychoses developing against a pathologic background (clinico-statistical study)].

A clinical and statistical study has covered 689 patients with alcoholic psychoses developing against the pathologic background. The study of the correlation between the form of attacks and the type of the disease course has demonstrated some highly probable variants of relapse development and transformation of the clinical forms of alcoholic psychoses in subsequent bouts. Two variants of the course of alcoholic psychoses have been identified. In the first variant psychoses show no tendency to recur and transform while the second one is associated with their relapses and transformation. These findings make it possible to infer that the presence of pathologic background is a factor of risk and to outline on this basis the measures to prevent the development and relapse of alcoholic psychoses.

Alcohol Withdrawal Delirium↗
PubMed2026

Integrated genomic and biochemical diagnosis of a novel homozygous start-loss variant in AKR1D1 associated with neonatal cholestasis.

INTRODUCTION: Congenital bile acid synthesis defects are rare autosomal recessive disorders that typically present in early infancy with cholestasis, progressive liver dysfunction, and, in severe cases, acute liver failure. These conditions may mimic other metabolic diseases detected in newborn screening, complicating early diagnosis. The AKR1D1 gene encodes &#x394;4-3-oxosteroid 5&#x3b2;-reductase, a key enzyme in primary bile acid synthesis, and pathogenic variants cause bile acid synthesis defect type 2 (OMIM #235555). CASE DESCRIPTION: We report a 3-month-old male infant with severe neonatal cholestasis and a history of elevated tyrosine levels in newborn screening. Pregnancy was high risk and unmonitored, with birth outside a hospital. Parental consanguinity was first-degree. Early metabolic evaluation showed transient normalization of tyrosine levels, but subsequent analyses revealed recurrent hyper-tyrosinemia. Urinary organic acids showed increased 4-hydroxyphenyl metabolites, with absent succinylacetone, excluding tyrosinemia type I. Progressive cholestasis developed, accompanied by coagulopathy, hyperbilirubinemia, hyperammonemia, and markedly elevated alpha-fetoprotein. Imaging revealed no structural liver abnormalities. Clinical exome sequencing identified a novel homozygous start-loss variant in AKR1D1, likely abolishing functional enzyme production. Metabolic studies confirmed increased urinary excretion of 3-oxocholenoic acids consistent with abnormal bile acid synthesis and supporting a diagnosis of bile acid synthesis defect type 2. Oral cholic acid therapy led to stabilization and improvement in clinical and biochemical parameters. DISCUSSION/CONCLUSION: This case illustrates the diagnostic complexity of neonatal cholestasis, particularly when initial metabolic findings suggest alternative etiologies. It highlights the importance of newborn screening as a tool for broader diagnostic suspicion and the critical role of early molecular diagnosis and multidisciplinary care. Timely recognition and targeted therapy can improve outcomes, prevent liver transplantation, and enable accurate genetic counseling, especially in consanguineous families.

Humans↗
PubMed1993

Chromosome abnormalities in non-small cell lung cancer pleural effusions: cytogenetic indicators of disease subgroups.

A cytogenetic study of pleural effusions (PE) containing metastatic or invasive tumor cells from 11 patients with non-small cell lung cancer (NSCLC) (3 squamous cell carcinomas [SQC] and 8 adenocarcinomas [ADC] including 1 giant cell variant) was performed to identify non-random chromosome abnormalities. Numerical abnormalities seen in > or = 30% of cases included gain of chromosomes 7 and 20, and loss of chromosomes 4, 9, 10, 13, 15, 16, 18, 19, 21, and 22. The most frequent structural abnormality involved rearrangement in 1p with breakpoints clustering at 1p10-p13. Other recurrent breakpoint regions, seen in > or = 30% of cases, occurred in chromosome region 3p10-p21, 3q11-q25, 6p11-p25, 6q13-q23, 7q11-q36, 9q32-q34, 11p11-p13, 11q13-q24, 13p/14p and/or 15p, 17p and 19p, with, in particular, apparent loss of 6q21-q27, 3p21-p26, 7q21-q22, 9p22-p24 (shortest regions of common overlap) and 17p. There was also recurrent gain of 1q23-q44, 8q13-q24, and 11q13-q23. These abnormalities were not restricted to a particular histological subtype, with the exception of +8 and a breakpoint in 9q32-q34, which were seen only in ADC. The 9q32-q34 breakpoint observed in 4 ADC PE (including 1 giant cell variant) represents a new observation in NSCLC. These findings, when compared to those reported for primary NSCLC indicate cytogenetic differences between the two which may be associated with pleural invasion of NSCLC.

Adenocarcinoma↗
PubMedDate not supplied

Squamous cell carcinoma of the pyriform sinus: retrospective study of 351 cases treated at the Institut Gustave-Roussy.

The first part of the study was devoted to 199 tumors treated by surgery, either conservative for the smallest tumors (18 cases) or radical (181 cases), with systematic postoperative radiotherapy. The 3-year survival rate was 48% and the 5-year, 33%, with a 12% local recurrence rate, a 7.5% neck recurrence rate, and 27.6% rate distant metastases. Histologic correlations were developed. The second part of the study reported 152 cases treated by external radiotherapy alone either as a variant of our treatment protocol for the small-sized tumors (31 cases) or, for the major part (121 cases), as a result of surgical inoperability or patient refusal. The former subgroup had a variable survival rate (65% at 3 years and 40% at 5 years) equivalent to similarly staged patients treated with conservation laryngeal surgery, whereas the prognosis of the latter subgroup was poor. The two main causes of failure were the inability to apply the curative treatment protocol in 35% of patients ineligible for a surgery and the high risk of distant metastases in the 65% of patients able to undergo the usual management.

Carcinoma, Squamous Cell↗
PubMed2002

Mandibular ameloblastoma: analysis of surgical treatment carried out in 60 patients between 1977 and 1998.

Ameloblastoma, a benign tumor of odontogenic type, represents 10% of all tumors of the jawbone. It is localized in the mandible in 80% of cases and in the upper jaw in the remaining 20%. In every case, the selection of the surgical treatment to be applied must consider some fundamental elements, including the age and general state of health of the patient, the clinicopathological variant, and the localization and extent of the tumor. In addition, it is necessary to evaluate whether the neoplasm to be treated is a primitive lesion or a recurrence. Although ameloblastoma has relative histological characteristics of benignity, this neoplasm has a high percentage of local recurrence and possible malignant development when treated inadequately. The aim of this study was to carry out a follow-up of 60 patients treated for ameloblastoma of the mandible between 1977 and 1998, analyzing the problems faced in removing this benign neoplasm and those concerning reconstruction of the surgical defect.

Adult↗
PubMed1990

Necrobiotic granulomas localised to the penis: a possible variant of subcutaneous granuloma annulare.

Three young men developed multiple firm asymptomatic nodules confined to the shaft of the penis. Skin biopsies from all 3 cases showed prominent necrobiotic granulomas indistinguishable from granuloma annulare. One of the patients had repeated recurrent nodules confined to the penis which were removed surgically over a period of 20 months. This unusual, but benign, presentation of granuloma annulare has to be distinguished from other granulomatous and malignant processes which may present as penile nodules.

Adult↗
PubMed1986

Influence of a variant angina on the results of percutaneous transluminal coronary angioplasty.

Nineteen (86%) of 22 patients with variant angina and important coronary stenoses (greater than 60%) had successful percutaneous transluminal coronary angioplasty. The acute complications in two patients were not caused by coronary spasms but by dissection with disturbance of perfusion. One of these two patients required a coronary bypass graft; the other was treated conservatively. Myocardial infarction developed in both patients. Despite long term administration of nifedipine (30-80 mg daily), restenoses occurred within six months (on average after 10 weeks) in nine patients with symptoms and one without. In four patients the restenoses exceeded the degree of stenosis before angioplasty. Five patients were revascularised by surgical means. Vessels in three out of four patients were later successfully dilated. After a mean period of observation of 24 months (6-51 months) 18 of the 19 patients are symptom free and do not require medication. The results confirm that angioplasty is an effective method of treating patients with variant angina and important coronary stenoses. The problem of the high frequency of restenosis, however, remains unresolved.

Angina Pectoris, Variant↗
PubMed1996

Leiomyosarcoma with osteoclast-like giant cells of the spermatic cord. A case report and review of the literature.

We describe a case of leiomyosarcoma with osteoclast-like giant cells arising form the spermatic cord and involving the testis. This is a rare tumor which is histologically similar to the giant cell variant of malignant fibrous histiocytoma. No such cases have been reported arising from the external genitalia. The patient was initially treated with local excision. He had a local recurrence 7 years later which was treated with radical excision and adjuvant radiation. The indolent nature of the tumor, with a long survival of 7 years after initial diagnosis followed subsequently by a more aggressive clinical course, is emphasized.

Aged↗