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PubMed2006

Membranous glomerulopathy with spherules: an uncommon variant with obscure pathogenesis.

BACKGROUND: Occasional case reports of membranous glomerulopathy described unique subepithelial accumulations of an unusual type of immune deposit composed of spherular structures. The identity of such structures as nuclear pores has been suggested, but not established. METHODS: We identified a cohort of patients (n = 14, including 1 patient with disease recurrence in an allograft) who presented with nephrotic syndrome and had renal biopsy specimens with light and immunofluorescence microscopic findings characteristic of membranous glomerulopathy. These patients were distinguished by ultrastructural studies that showed glomerular capillary wall accumulations of subepithelial immune deposits composed of uniform spherular structures, while lacking the typical granular electron-dense deposits seen in membranous glomerulopathy. The molecular identity of these spherular structures as nuclear pores was tested by using immunofluorescence microscopy and immunohistochemistry with mouse monoclonal antinuclear pore antibodies (Covance, Princeton, NJ) and anti-Nuclear Pore-O-Linked Glycoprotein (Affinity BioReagents Inc, Golden, CO) antibodies. RESULTS: Measurement of spherular structures by using high-magnification electron microscopy showed an average diameter of 84.5 nm, which correlated well with accepted diameters of nuclear pores (80 to 120 nm). Immunofluorescence microscopy and immunoperoxidase staining with both antibodies showed characteristic beaded staining of nuclear membranes of multiple cell types within normal control kidney, but no staining of immune-type deposits within glomerular basement membranes. CONCLUSION: These cases form a rare, but distinctive, morphological subclass of membranous glomerulopathy. The antigenic specificity of immune deposits in these cases remains elusive.

Adult↗
PubMedDate not supplied

Diffuse histiocytic lymphoma after histologic conversion: a poor prognostic variant.

Diffuse histiocytic lymphoma (DHL) developed in 14 patients with a different non-Hodgkin's lymphoma and one with chronic lymphocytic leukemia. The median time from the diagnosis of the first malignancy to the appearance of DHL was 47 months (range, 8--112). The most common presentation of histologic conversion was new or recurrent lymphadenopathy. Hypercalcemia was associated with the onset of the DHL in four of 15 patients. Eight patients with DHL after histologic conversion were treated with doxorubicin, vincristine, and prednisone with or without cyclophosphamide, but none achieved complete remission. Two other patients did achieve a complete response with therapy (one with radiotherapy and one with cyclophosphamide, vincristine, procarbazine, and prednisone), but they had brief remissions, and no patient in this study achieved long-term, disease-free survival. This was reflected in the short (12-month) median survival after histologic transformation to DHL. It appears that patients with DHL after histologic conversion have a worse prognosis than those with de novo DHL.

Aged↗
PubMed2026

Clinical performance of the urine-based TERT promoter AbsoluteQ Digital PCR for non-invasive detection of bladder cancer.

Bladder cancer (BC) is the ninth most common cancer worldwide, with urothelial carcinoma accounting for approximately 90% of all cases and presenting predominantly as non-muscle-invasive disease. Due to its high recurrence rate and the need for long-term surveillance, BC is associated with the highest lifetime treatment costs per patient among all cancers, making its effective management a significant clinical and economic challenge. The most frequently identified variants in the TERT gene promoter are c.-124C>T (C228T) and c.-146C>T (C250T), located within a region characterized by high guanine-cytosine (GC) content, which makes amplification challenging. We aimed to validate the AbsoluteQ Digital PCR assay for the detection of urine-based TERT promoter variants for the diagnosis of urothelial bladder cancer and to assess its diagnostic performance in comparison with standard methods. Urine samples were collected from patients with histopathologically confirmed bladder cancer (n = 58) and compared with a control group (n = 55). The C228T and C250T variants were tested using the AbsoluteQ Digital PCR assay. Sensitivity, specificity, and predictive values were calculated to evaluate the performance of the assessed method. The AbsoluteQ Digital PCR demonstrated superior diagnostic performance compared to conventional Sanger sequencing for detecting TERT promoter variants, achieving a sensitivity of 89.65% (95% CI: 78.16-95.72) and a specificity of 100% (95% CI: 91.87-100), with no false positives observed. Given its robustness and clinical relevance, AbsoluteQ Digital PCR is emerging as a promising tool for non-invasive molecular diagnostics targeting TERT promoter variants.

Humans↗
PubMed1993

Soluble interleukin-2 receptor in hairy-cell leukemia: a reliable marker of disease.

The CD25 molecule, which corresponds to the p55 alpha chain of the interleukin-2 receptor, is strongly expressed by neoplastic cells in hairy-cell leukemia and is released in large amounts in the soluble form which is detectable in serum. In order to assess the reliability of the soluble interleukin-2 receptor as a disease marker in the management of patients with hairy-cell leukemia, we investigated serum levels in 35 untreated patients and in 2 patients with the hairy-cell leukemia variant. In 21 of 35 patients soluble receptor levels were also monitored during and after recombinant interferon-alpha therapy. Clinical and hematological parameters were also assessed. Soluble interleukin-2 receptor levels were extremely high at the time of diagnosis in patients with typical hairy-cell leukemia [32,722 +/- 27,001 vs. 331 +/- 145 units/ml in controls (mean +/- SD)], but not in patients with the leukemia variant. A progressive decrease in soluble interleukin-2 receptor levels paralleled the clinical response to treatment, although normal values were never detected, even in patients who achieved an apparent complete remission. After recombinant interferon-alpha discontinuation, disease recurrence was accompanied by a progressive increase to pre-treatment soluble receptor levels. Overall, a close correlation was found between soluble interleukin-2 receptor values and total tumor burden (r = 0.84, P < 0.001). On the basis of these data, soluble interleukin-2 receptor should be regarded as a key marker in the management of patients with hairy-cell leukemia.

Adult↗
PubMed2006

Accessory cardiac bronchus and tracheal bronchus anomalies: CT-bronchoscopy and CT-bronchography findings.

Most common developmental anomalies of bronchial tree include accessory cardiac bronchus (ACB) and tracheal bronchus (TB). Minor bronchial anomalies include variants of TB, displaced segmental bronchi, and bronchial agenesis. We present CT-bronchoscopy and CT-bronchography findings of three cases with either ACB or TB. Recognition of these anomalies is important, as associated clinical complications, including recurrent episodes of infection, hemoptysis, and perhaps malignancies may be anticipated in a small percentage of patients.

Adult↗
PubMed1995

Spindle cell lipoma in a 14-month-old girl.

This case report concerns a girl with spindle cell lipoma of the neck. Spindle cell lipoma is a variant of lipomas and was first described by Enzinger and Harvey in 1975. It occurs chiefly in males between 40 and 70 years of age. It is a benign lesion that can be cured by excision, and local recurrence is rare. Spindle cell lipoma is composed of adipocytes and non-fat-storing immature mesenchymal cells. The condition is uncommon in adults and had not been reported to occur in children.

Female↗
PubMed1990

Keratoacanthoma necessitating metacarpal amputation.

Keratoacanthoma is usually considered a benign self-limiting lesion. First described in 1888 by Hutchinson, it most commonly involves the face and hands. It is usually controlled by complete soft tissue excision. A variant, subungual keratoacanthoma, affects bone by pressure erosion of the distal phalangeal tip. We report a case of keratoacanthoma clinically involving a metacarpal and phalanges with a radiologic and physical appearance at variance with previous reports. After multiple recurrences following erosion and cryosurgery, as well as attempted digit salvage with Mohs' surgery, ray amputation was required. The world literature pertaining to keratoacanthoma is reviewed and discussed.

Aged↗
PubMed1998

p53 gene mutations in osteosarcomas of low-grade malignancy.

Alterations in tumor suppressor gene p53, localized on chromosome 17p13, are considered to play a significant role in the initiation and, to some extent, even in the progression of various malignant tumors. In this respect, investigations on conventional highly malignant osteosarcomas have shown a mutation rate of approximately 20%. However, currently, data on the mutation rate in the group of variant histology osteosarcomas of low-grade malignancy do not exist. Therefore, we investigated a panel of low malignant entities (five low malignant intramedullary osteosarcomas grade 1; one intramedullary osteosarcoma grade 2; eight parosteal osteosarcomas, including one local recurrence grades 1 and 2, and five periosteal osteosarcomas grade 2) with polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis focusing on exons 4 to 8 of the p53 gene followed by direct sequencing. Point mutations were found in one low-grade osteoblastoma-like osteosarcoma and in two periosteal osteosarcomas grade 2 (one missense, one silent, and one nonsense mutation). This mutation rate of 15.7% (3 of 19) is comparable to that determined in highly malignant osteosarcomas. Moreover, the analysis of clinical data did not show any difference in the behavior of tumors with p53 mutations compared with those without. Therefore, we suggest that alterations in p53 gene are an early event in the tumorigenesis of malignant osteoblastic tumors without impact on progression of these tumors.

Adolescent↗
PubMed2000

Current aspects of valproate in bipolar disorder.

For more than 30 years, lithium has been the drug of choice for the treatment of bipolar disorder. However, it has numerous adverse effects, a relatively slow onset of action, many common drug-drug interactions, and a narrow therapeutic index. Because of these problems, researchers looked for alternative and/or adjunctive treatments in bipolar disorder, focusing on the anticonvulsants carbamazepine and valproate. The existing data of valproate are reviewed pointing out its promises and limitations in psychiatric diseases. Growing data indicate that valproate is a well tolerated and effective agent in bipolar disorder. Controlled studies prove its use in acute mania, often with a rapid onset of action. Open studies suggest that the drug also reduces the frequency and intensity of recurrent manic and depressive episodes over extended periods. Its acute and prophylactic antidepressant effects are probably minor to its antimanic efficacy. Recent data support the specific therapeutic efficacy of valproate in certain subtypes of bipolar illness: rapid cycling variant, mixed mania, bipolar disorder associated with panic attacks, comorbid alcohol or substance abuse, with neurological features or secondary to organic illnesses. These features make valproate interesting as an alternative treatment for patients who generally respond less well to lithium or as a useful adjunct in the treatment of complicated patients who do not respond to single agents. However, further controlled studies are warranted to provide clear guidelines for the treatment with valproate.

Antimanic Agents↗
PubMed2005

Asymptotic solution of the Wang-Uhlenbeck recurrence time problem.

A Langevin particle is initiated at the origin with positive velocity. Its trajectory is terminated when it returns to the origin. In 1945, Wang and Uhlenbeck posed the problem of finding the joint probability density function (PDF) of the recurrence time and velocity, naming it "the recurrence time problem". We show that the short-time asymptotics of the recurrence PDF is similar to that of the integrated Brownian motion, solved in 1963 by McKean. We recover the long-time t(-3/2) decay of the first arrival PDF of diffusion by solving asymptotically an appropriate variant of McKean's integral equation.

Journal Article↗
PubMed1980

Coronary artery spasm: use of ergonovine in diagnosis.

Ergonovine maleate was administered to 69 patients with chest pain but without significant coronary artery disease (less than 10% luminal diameter obstruction) to determine whether coronary artery spasm could be provoked. Coronary artery spasm was seen at angiography, or inferred from ECG or thallium myocardial perfusion scan changes. The test was positive in 16 patients: all five patients with documented variant angina (Group A); ten of the 19 patients with suspected variant angina (Group B); one of the 11 patients with exercise-induced chest pain (Group C); and none of the 34 patients with atypical chest pain (Group D). Patients with a positive test usually smoked, complained of recurrent nocturnal or early morning chest pain, showed ST changes during spontaneous chest pain and had minot degrees of fixed coronary obstruction (30--70%), when compared to those with a negative test. The only major side effect of the test was transient ventricular tachycardia which occurred in three patients and was reverted by sublingual and parenteral nitroglycerine.

Aged↗
PubMed1984

A case of malignant myxoma (myxosarcoma) of the maxilla.

A centrally located maxillary myxoma with malignant histologic appearance and aggressive clinical course is reported in a 40-yr-old man. The gelatinous polypoid tumor mass was diagnosed as a myxoma in the first biopsy. The tumor recurred rapidly (within 3 wk) eroding the bony structures of the maxillary sinus and the hard palate and infiltrating the adjacent soft tissues. In repeated biopsy (as well as reassessment of the first biopsy) the tumor was found to be composed of plump stellate cells, some of which were pleomorphic with atypical and bizarre mitotic figures. The amorphic myxoid matrix contained acid mucopolysaccharides and was completely devoid of lipids. Electron microscopy demonstrated that the tumor cells were identical to fibroblasts, which is consistent with the appearance of myxoma cells. When radiotherapy was unsuccessful, we removed the left maxilla with orbital excenteration and reconstructed the jaw. Three years later the patient died accidentally. At autopsy, no recurrence of myxoma or distant metastases were found. Due to the malignant histologic appearance and the aggressive clinical course, this tumor can be called an odontogenic myxosarcoma and should be added to the WHO classification as a malignant variant of odontogenic myxoma.

Adult↗
PubMed2004

Prognostic factors in differentiated thyroid carcinomas and their implications for current staging classifications.

Differentiated thyroid carcinomas (DTC) (papillary, follicular and follicular type of papillary) have a favourable prognosis, but a proportion of patients develop recurrences and eventually die of the disease. Various prognostic factors have been identified and been used to create the current staging classifications (AGES, AMES, MACIS, EORTC, UICC-TNM). We examined 499 DTC patients retrospectively to validate known prognostic factors that enable them to be recognised as having either a low or a high risk of death related to a recurrence of DTC, by reference to the current staging classifications. Sixty-nine of them (14%) had local or distant recurrences, the mean time to recurrence being 7.7 years. The 10-year disease-free survival rate was 80%, and the ten-year overall survival rate for the entire group was 91%, with a mean survival time of 8.7 years. Male gender, a follicular type of tumour, larger tumour size, extrathyroidal invasion outside the capsule and nodal metastases were all related to a higher incidence of tumour recurrence, and the follicular type of histology, age > 45 years, larger tumour size and local invasion entailed poorer survival. The AMES and to some extent the EORTC classification were not reproducible in this material, mainly because some prognostic variants were no longer encountered or were insufficient in number to allow reliable conclusions to be drawn. The MACIS staging classification leaves the definition of the intermediate and high risk groups too wide and is therefore not very reliable. Pooling of stages I and II improved the relevance of the TNM classification. All the current staging classifications are able to discern a low risk DTC group well. We achieved a highly accurate definition of risk in the present material using only two parameters, age (cut-off value 50 years) and extracapsular invasion of the thyroid gland.

Adenocarcinoma, Follicular↗
PubMed1989

Systemic and cerebral amyloidosis.

Two types of familial cerebral amyloid angiopathy or hereditary cerebral hemorrhage with amyloidosis (HCHWA) have been described: the Icelandic type (HCHWA-I), and the Dutch type (HCHWA-D). Both are autosomal-dominant forms of amyloidosis restricted to the small vasculature of the brain and clinically characterized by recurrent strokes leading to an early death. In spite of their clinico-pathological similarities, the amyloid fibrils are structurally different. In the case of HCHWA-I, the amyloid protein is a degradation product of Cystatin C variant (gamma trace), a normal serum protein and an inhibitor of cysteine proteases. The amyloid protein is the expression of a genetic aberration, since it has been demonstrated that a point mutation occurred in the Cystatin C gene. On the other hand the amyloid protein in HCHWA-D type has very recently been shown to be related to Alzheimer's disease (AD) and Down's syndrome (DS) beta-protein. However, the complete sequence of HCHWA-D beta-protein obtained from leptomeninges was three residues shorter (39 instead of 42) than that reported for the insoluble plaque amyloid of AD. The distinct enzymatic cleavage at the carboxyl end of the beta protein is consistent with the concept that the amyloid fibrils derive from a larger precursor by specific and partial degradation. The difference may reflect a particular type of proteolysis that occurs in the vessel wall and not in the brain parenchyma.(ABSTRACT TRUNCATED AT 250 WORDS)

Alzheimer Disease↗
PubMed1999

[Bifurcation stenting of unprotected common trunk: a case report and review of the literature].

Left main disease is the most severe form of atherosclerotic heart disease, with severe prognostic implications in the short-medium term. The traditional therapeutic approach has been surgical, with placement of bypass grafts both on the LAD and the circumflex artery. Published experience with the percutaneous approach to left main disease has been disappointing because of acute procedural problems and poor long-term outcome. On the other hand, a review of the literature shows a strong negative selection of patients offered PTCA of left main-stem lesions: most published series are composed of extremely high-risk patients, often in cardiogenic shock or with severe extracardiac multisystem disease, with a prohibitive surgical risk and an inherently poor acute and mid-term prognosis. We describe such a patient, a 77-year-old woman with end-stage renal disease on hemodialysis, who developed unstable angina due to distal critical left main disease, with involvement of the origin of both the LAD and the circumflex branch. Angina did not stabilize with medical therapy; the patient was denied surgery because of a prohibitively high surgical risk. A bifurcation stenting procedure was performed with no acute complications, a satisfactory one-month angiographic follow-up and no recurrence of angina until the death of the patient 4 months after the procedure for extracardiac reasons. As indicated by a recent paper by M. Leon, we likewise suggest that left main disease (especially in its simpler proximal variants) may actually be a good target for state-of-the-art transcatheter interventions, including primary stenting, under close angiographic follow-up and careful positive (instead of negative) selection of patients.

Aged↗
PubMedDate not supplied

[Bilateral microsurgical varicocelectomy in infertile men].

UNLABELLED: We assessed how bilateral microsurgical varicocelectomy alters semen quality in a large cohort of infertile men with bilateral varicocele. By means of bilateral testicular biopsy, we have investigated the spermatogenesis failure in several biological men groups and determined whether it can change the patient's candidacy for assisted reproductive technology procedures (ART). MATERIALS AND METHODS: From 1993 until 2003 in the urology and andrology department of St. Antoine hospital (1993-1994), the Tenon hospital (1994-2003) and hospital Saint Louis (1997-2003), 956 patients with varicocele were consulted and operated for primary or secondary sterility. Bilateral varicocele was observed in 219 patients. Our study included 198 patients with clinical palpable and infraclinical (ultrasonic doppler scanning) bilateral varicocele who underwent microsurgical bilateral varicicolectomy with bilateral testicular biopsy. Mean patient age was 34.5 (range 19 to 65) years. Varicocele has been classified into 4 stages. All the patients underwent a complete physical examination, including supine and standing scrotal examination, as well as testicular volume determination using a standard orchidometer. Complementary investigation included: the hormone status (FSH, LH, testosterone), semen analyses (carnitine, LDHx, fructoze, zinc). On the basis of the total motile sperm count 198 patients were divided into 5 biological groups: 10 azoospermia and oligospermia extreme (0-1) x 10(6)/cc--83 patients (41.9%); 2) oligospermia severe (1.1-5) x 10(6)/cc)--37 patients (18.7%); 3) oligospermia moderate (5.1-10) x 10(6)/cc)--36 patients (18.9%). To measure the sperm quality, the spermogram was studied 3, 6 and 12 months after the operation. On the basis of testicular biopsy we defined the following spermatogenesis groups: normal spermatogenesis--9 cases, hypospermatogenesis--141 cases, maturation arrest (early-6, late-20), Sertli cell only syndrome (SCOS)--17, tubular and peritubular sclerosis--5. The correlative analysis between the FSH classes and azoo- and oligospermic subsets (83 patients) shows that azoo-oligospermic area as a whole represents only 2 patients (2.4%) in the low FSH class, 46 (55.4%) in the normal FSH range class II, 39 (46.9%) patients in the high FSH class III. All the patients were divided into 4 groups according to the type of ART for which they qualified including 0 to 1.5 million/ml (intracytoplasmatic sperm injection-ICSI)--79 patients, 1.5 to 5 million/ml (in vitro fertilization-IVF)--33 patients, 5 to 20 million/ml (intrauterine insemination--IUI)--47 patients and 20 million/ml or greater sperm (spontaneous pregnancy candidates)--39 patients. RESULTS: Postoperative sperm concentration increased significantly compared to the one before the varicocelectomy. In the group of our patients the results were the following: of 198 patients 105 (53.1%) improved the spermogram, 44 (22.2%) worsened the spermogram, the spermogram was not changed in 49 (24.8%). In the first biological group of 83 patients, 42 (50.6%) improved the spermogram that enables using several methods for this difficult group (ICSI, IVF) for assisted reproductive technique (ART). The total amount of motile sperm per ejaculation increased from (0.09 +/- 0.030) x 10(6) before varicocelectomy up to (8.9 +/- 1.3) x 10(6) afterwards. In this group the testicular biopsy shows different variants of spermatogenesis disturbances, respectively. As for biological groups 3, 4 and 5, the observed spermogram improvements sharply increased the patients' liability to spontaneous pregnancy and make them intrauterine insemination candidates. CONCLUSIONS: Microscopic varicocelectomy has minimal morbidity and recurrence and may be beneficial for certain patients. Making simultaneous biopsy in patients with azoospermia and severe oligospermia makes it possible to distinctly define the extent of spermatogenesis disturbances and to elaborate adequate treatment policy. The drastic improvement of the sperm quality after varicocelectomy increases the ART chances for spontaneous pregnancy.

Adult↗
PubMed1989

Pleomorphic fibroma of the skin: a benign neoplasm with cytologic atypia. A clinicopathologic study of eight cases.

A clinicopathologic study of eight examples of polypoid and dome-shaped cutaneous fibrous lesions with sparse cellularity but striking nuclear atypia and rare mitotic figures is presented. Positive immunohistochemical staining for vimentin and actin supported the fibroblastic nature of these lesions. All eight cases were adults whose ages ranged from 33 to 67 years (mean 52 years). Five were women and three were men. Five lesions were located on extremities, two on the trunk, and one on the face and they measured from 4 to 16 mm in greatest dimension. The lesions were clinically followed from 4 months to 5 years. They all showed benign clinical behavior, with only one local recurrence in a lesion that had been incompletely removed. The nuclear atypia seen in these fibrous lesions may be similar to that which occurs in other benign mesenchymal neoplasms, such as pleomorphic lipoma, pleomorphic leiomyoma, ancient schwannoma, and variants of dermatofibroma with atypical cells. We suggest that "pleomorphic fibroma" is an appropriate term for this lesion based on its histologic differentiation, cytologic atypia, and benign clinical course.

Adult↗
PubMed1986

[Transluminal coronary angioplasty: immediate and short-term results. Apropos of 302 dilated vessels].

This study reports the experience of the Cardiac Hospital of Lille up to the 1st October 1984. Two hundred and sixty-nine patients with a mean age of 51 years underwent transluminal coronary angioplasty for one or more stenotic lesions. Three hundred and two vessels were dilated. The left anterior descending artery was dilated in 72.5% of cases, the right coronary in 17.6% and the left circumflex in 8.6% of cases. The immediate results may be summarised as follows: it was possible to cross the stenosis to be treated in 91.4% of cases; the primary success rate (a gain of more than 20% without complications) was 83%. The narrowing was significantly decreased from 72 +/- 7% to 25 +/- 17%, the average gain in lumen size was 53 +/- 16%. The emergency coronary artery bypass surgery rate was 4.3%, and 3.6% of all the patients developed myocardial infarction. Sixty four per cent of patients had negative maximal exercise stress tests on discharge from hospital. The patients who had positive tests had improved exercise tolerance compared to the stress test performed before angioplasty. Angiographic control at 6 months was performed in about half the patients and showed coronary stenosis in 27%. Sixty eight per cent of the patients were totally asymptomatic.

Adult↗