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PubMed1990

The acute idiopathic photodermatoses.

The acute idiopathic photodermatoses are more common in females and comprise polymorphic light eruption, actinic prurigo, hydroa vacciniforme, and solar urticaria. Polymorphic light eruption occurs considerably more frequently than the others and while precise pathogenic mechanisms are still unclear, increasing evidence suggests an immunological basis for this condition. Although clinically distinct, actinic prurigo may be a variant of polymorphic light eruption, whereas solar urticaria and possibly hydroa vacciniforme are distinct entities, the former representing a type I hypersensitivity response. Polymorphic light eruption is characterized by a recurrent cutaneous reaction to ultraviolet (UV) exposure occurring after a delay of several hours that consists of pruritic erythematous papules, vesicles, or plaques on usually only some exposed sites and resolves without scarring over about a week. Actinic prurigo is differentiated from polymorphic light eruption by childhood onset and more persistent and excoriated lesions present both on sun-exposed and, to a lesser extent, non-exposed sites. Hydroa vacciniform is a rare disorder that also begins in childhood, and is characterized by recurrent crops of vesicles on sun-exposed skin and subsequent vacciniforme scarring. Solar urticaria is an uncommon condition that usually begins in the third or fourth decade and is differentiated from the other acute idiopathic photodermatoses by rapid onset of urticarial lesions within minutes of UV exposure and resolution within 1 to 2 hours.

Humans↗
PubMed1988

[Comparative study of parathyroid function by serum parathyroid hormone, total adenosine cyclic monophosphate in the urine and its nephrogenic fraction].

The immune heterogeneity of the parathyroid hormone and the possibility of its peripheral activation by 1.25 (OH)2 vitamin D3 hinders the precise evaluation of the functional state of parathyroid glands by direct determination of the hormone in the serum and also the creation of a suppressive test similar to the suppressive tests applied in the study of other hormones. A study was carried out which proves that the indirect examination of the parathyroid function by determining the cyclic adenosine monophosphate in urine and its nephrogenic fraction (i.e. by the effects of the active parathyroid hormone) is of greater importance for clinical practice than the direct determination of the parathyroid hormone in peripheral blood. This is the method of choice in the diagnosis of the subclinical variant of primary normocalcemic hyperparathyroidism.

Calcium↗
PubMed1979

Sacrofixation with Marlex mesh in massive prolapse of the rectum.

Rectal fixation to the sacrum is considered the most rational operation in the surgical treatment of massive or complete prolapse of the rectum, since it eliminates the anatomic defect which is fundamental in the pathogenesis of this disease. Many techniques have been used to join the posterior wall of the rectum to the sacrum, ranging from the use of simple sutures with nonabsorbable material to prosthetic materials, such as Teflon sheets or Ivalon, polyvinyl, sponges which are placed around the rectum and attached to the sacrum. A variant consists of using Marlex mesh instead of Teflon. In an experience with 24 patients, only one patient died postoperatively. In a follow-up period of ten years, no recurrences have been observed in any of the remaining patients.

Adolescent↗
PubMedDate not supplied

Direct intracranial sagittal and coronal CT scanning: anatomy and pathology.

The application of whole-body scanners with a wide aperture cone to neuroradiology permits examination of the head in the sagittal plane. This method yields better definition of anatomic structures such as the inner and outer supra- and infratentorial cerebrospinal fluid spaces, the major vessels, and all structures of the posterior fossa close to the midline with negligible artifacts. By mono-, bi-, or triplanar approaches, intracranial pathology can be demonstrated exactly with respect to the major anatomic landmarks, without the disadvantages of multiplanar reconstructed views. In combination with an altered positioning for coronal scanning, optimal biplane evaluation of the sellar region is possible. Additional cisternal enhancement studies in variants of empty sella and brainstem tumors may not always be necessary. The sagittal section, like the coronal, can be placed lateral to metallic clips for early detection of tumor recurrence. Limitations are discomfort in positioning and a degradation of image quality caused by metal amalgam fillings.

Adolescent↗
PubMed1997

Stent placement for recurrent vasospastic angina resistant to medical treatment.

The successful stent placement for treatment of recurrent vasospastic angina in a patient with nonstenotic coronary arteries is described. Use of the Palmaz-Schatz stent resulted in successful vasodilation that completely prevented anginal attacks. This procedure represents an alternative treatment for patients with vasospastic angina refractory to aggressive medical therapy.

Angina Pectoris, Variant↗
PubMed2006

Overexpression of c-Myc and Bcl-2 during progression and distant metastasis of hormone-treated breast cancer.

The aim of this study was to identify molecules involved in the proliferation and survival of recurrent estrogen receptor (ER)-positive breast cancer at the site of metastasis. Most studies of biomarkers are done using the initial primary breast tumor whereas pathological studies of breast cancer lesions after distant recurrence are scarce. Here we evaluated the expression of the oncogenes c-Myc and Bcl-2, mediators of estrogen-dependent proliferation and survival, during breast cancer progression and relapse after adjuvant hormonal therapy. Using a preclinical model of tamoxifen-resistant growth, we found overexpression of c-Myc in all (3/3) and of Bcl-2 in most (2/3) tamoxifen resistant-breast cancer variants. To determine whether c-Myc and Bcl-2 are expressed during breast cancer progression in the clinics we identified breast cancer patients who had received adjuvant hormonal therapy for the treatment of their localized disease and had later experienced relapse. From 583 patients who had received adjuvant hormonal therapy a total of 82 experienced recurrence. Nevertheless, only 22 patients had had a biopsy of their metastatic lesion done after relapse. Twenty-one biopsies were useful for this biomarker study. These biopsies were obtained mostly (20) from breast cancer patients who had received tamoxifen as their adjuvant hormonal therapy. One patient had received an aromatase inhibitor instead. Our results showed that almost all (20) metastatic recurrences expressed ER. Expression of c-Myc was observed in 18 out of 19 metastatic lesions scored while expression of Bcl-2 was detected in 17 out of 21 metastatic tumors. A correlation between ER expression and Bcl-2, but not with c-Myc, was found in these recurrent metastatic lesions. In addition, c-Myc expression was correlated with the nuclear grade of the metastatic lesion. Thus, the frequent expression of c-Myc and Bcl-2 in metastatic breast cancer recurrences suggests that combining hormonal therapy with strategies to block c-Myc and Bcl-2 may prevent growth of ER-positive breast cancer at the site of metastasis.

Adult↗
PubMed2006

Longitudinal study of patients after surgical treatment for cervical lesions: detection of HPV DNA and prevalence of HPV-specific antibodies.

The principal aims of this study were to test whether persistence of human papillomavirus (HPV) DNA is predictive of recurrent disease in women after surgical treatment for cervical lesions, to distinguish between persistent and newly acquired HPV infection, and to observe the effect of surgical treatment on levels of HPV-specific antibodies. A group of 198 patients surgically treated for low-grade and high-grade squamous intraepithelial lesions and 35 age-matched controls were monitored for 18 months at 6-month intervals. The presence of HPV DNA in cervical smears was detected by means of consensus polymerase chain reaction, and serum levels of HPV-specific antibodies to HPV types 16, 18, 31, 33, and 45 were measured. In ten patients positive for HPV type 16 in consecutive samples, the HPV 16 variants were identified using a polymerase chain reaction specific for the long control region. Data regarding demographics, risk factors for cervical cancer, and risks related to HPV exposure were collected through a patient questionnaire. Subjects persistently positive for HPV DNA were more likely to present with cytological and/or colposcopical abnormalities. A higher reactivity to HPV-specific antibodies was observed in these women at the 18-month follow-up visit. All ten patients with HPV 16 infection detected in consecutive samples showed persistence of either the same prototype or the same variant during the follow-up period. Risky sexual behavior and smoking were more common in patients than in controls. Persistent HPV infection as demonstrated by both HPV DNA detection and antibody detection appears to be a risk factor for the recurrence of pathological findings in women after surgery. An individually based approach to surgical treatment is an important factor in the outcome of disease at follow-up.

Adolescent↗
PubMed1997

Vasospasm in smooth coronary arteries as a cause of asystole and syncope.

In a patient with proven myocardial infarction, coronary artery disease was excluded angiographically. Four weeks later the patient experienced recurrent syncope of unknown cause. By means of Holter monitoring, ST-segment elevation with subsequent first-degree AV block progressing to asystole and resulting in loss of consciousness were documented. Treatment with gallopamil and a VVI-pacemaker led to complete relief of all symptoms. Hence, Prinzmetal's angina may be a rare cause of syncope even in smooth coronary arteries.

Angina Pectoris, Variant↗
PubMed2004

Infevers: an evolving mutation database for auto-inflammatory syndromes.

The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD Syndrome (HIDS), Familial Cold Autoinflammatory Syndrome/Muckle-Wells Syndrome/Chronic Infantile Neurological Cutaneous and Articular Syndrome (FCAS/MWS/CINCA). The prototype of this group of disorders is FMF, a recessive disease characterized by recurrent bouts of unexplained inflammation. FMF is the pivotal member of an expanding family of autoinflammatory disorders, a new term coined to describe illnesses resulting from a defect of the innate immune response. Therefore, we decided to extend the Infevers database to genes connected with autoinflammatory diseases. We present here the biological content of the Infevers database, including the introduction of two new entries: Crohn/Blau and Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA syndrome). Infevers has a range of query capabilities, allowing for simple or complex interrogation of the database. Currently, the database contains 291 sequence variants in related genes (MEFV, TNFRSF1A, MVK, CARD15, PSTPIP1, and CIAS1), consisting of published data and personal communications, which has revealed or refined the preferential mutational sites for each gene. This database will continue to evolve in its content and to improve in its presentation.

Arthritis↗
PubMed1994

The estrogen receptor from a tamoxifen stimulated MCF-7 tumor variant contains a point mutation in the ligand binding domain.

The nonsteroidal antiestrogen tamoxifen (TAM) is the most commonly used endocrine treatment for all stages of breast cancer in both pre- and postmenopausal women. However, the development of resistance to the drug is common, as most patients treated with TAM eventually experience a recurrence of tumor growth. One of the potential mechanisms of treatment failure is the acquisition by the tumor of the ability to respond to TAM as a stimulatory rather than inhibitory ligand. We (Gottardis and Jordan, Cancer Res 48:5183-5187, 1988; Wolf et al., J Natl Cancer Inst 85:806-812, 1993) and others (Osborne et al., Eur J Cancer Clin Oncol 23: 1189-1196, 1987; Osborne et al., J Natl Cancer Inst 83: 1477-1482, 1991) have extensively described the reproducible development of TAM stimulated growth in a laboratory model system using MCF-7 human breast cancer cells grown as solid tumors in athymic mice. In this paper we report on the isolation of an estrogen receptor (ER) from a TAM stimulated tumor (MCF-7/MT2) which contains a point mutation that causes a tyrosine for aspartate substitution at amino acid 351 in the ligand binding domain. The mutant appears to the major form of ER expressed by this tumor. We also report that only wild type ER was detected in three other TAM stimulated MCF-7 tumor variants, suggesting that multiple mechanisms are possible for the development of TAM stimulated growth. The implications of these findings are discussed.

Amino Acid Sequence↗
PubMed1994

Nodular desmoplastic variant of trichoblastoma.

A case of an unusual, previously unreported, nodular desmoplastic variant of trichoblastoma (hair germ neoplasm) in the scalp of a 65-year-old woman is reported. Four discrete nodules were present in close proximity at presentation. Another nodule developed in the same vicinity 3 1/2 years after excision, and there was no further recurrence 2 1/2 years later. The tumors were located in the dermis, made up of cords of primitive hair germ-like structures radiating down from discrete hyalinized nodules located in the superficial dermis. There were small foci of keratinization or mucoid change within the epithelial islands. Toward the deep portion of the tumor, the epithelial cells became spindly and grew in a more dispersed pattern, within a desmoplastic stroma. There was also infiltration of the epineurium of the cutaneous nerves and arector pili muscle. This uncommon benign neoplasm of hair germ merits wider recognition; in particular, this desmoplastic variant may mimic invasive carcinoma, morphea-type basal cell carcinoma, desmoplastic trichoepithelioma, and desmoplastic trichilemmoma. Distinguishing this variant from the former two possibilities is particularly important in order to avoid unduly aggressive treatment.

Aged↗
PubMed1999

Cytogenetic aberrations in Ewing sarcoma: are secondary changes associated with clinical outcome?

BACKGROUND: Ewing sarcoma is associated with a nonrandom pattern of primary and secondary chromosomal aberrations. Whereas the finding of rearrangements of chromosome 22, usually in the form of a balanced translocation t(11;22)(q24;q12), is important diagnostically, nothing is known about the potential prognostic impact of the secondary chromosomal aberrations. PROCEDURE: During a 1 3-year-period, short-term cultured tumor samples from 21 children and young adults with Ewing sarcoma were cytogenetically analyzed successfully. RESULTS: Clonal chromosome aberrations were detected in 18 patients, 17 of whom had the characteristic t(11;22)(q24;q12) or variants thereof. The most frequent secondary change was +8, followed by +12, +2, +5, +9, +15, and gain of material from the long and short arms of chromosome 1. The only recurrent secondary change that was restricted to tumors from the ten patients that were dead at latest follow-up was gain of 1q material. Furthermore, all three patients with tumors with chromosome numbers over 50 had died, and the only patient with a tumor karyotype lacking chromosome 22 rearrangement was alive without evidence of disease. CONCLUSIONS: These data and previously published results indicate that the karyotypic pattern not only may be of diagnostic significance but also may be important prognostically.

Adolescent↗
PubMed2006

Atypical congenital mesoblastic nephroma presenting in the perinatal period.

Congenital mesoblastic nephroma (CMN) is a rare tumour of infancy having an overall good prognosis. The less common, atypical CMNs have cellular elements in them and tend to have an unpredictable course. Occurrence in the perinatal period may further change the outcome. By reporting three patients presenting in the perinatal period with atypical CMN, an attempt is made in this paper to characterize the clinical behaviour of these variant tumours. Though one of our patients had an uneventful course, the other two had several complications including polyhydramnios, prematurity, hypertension, haemodynamic instability and tumour spillage. The course was complicated by recurrence in the latter two and refractoriness to chemotherapy and death in one. That the atypical subset of CMNs occurring in the perinatal period can have a stormy course is well illustrated by this report. Possible prognostic factors are evaluated and the sparse reports of similar cases in the literature are reviewed and compared.

Female↗
PubMed1993

Multisystem damage associated with tricorporal priapism in sickle cell disease.

PURPOSE: Priapism is an uncommon but debilitating complication of sickle cell disease (SCD). Recent observations among adult males regarding the abysmal failure of medical and surgical therapy encouraged us to review our 25-year experience identifying the prognostic features that might determine outcome. PATIENTS AND METHODS: As part of a prospective 25-year longitudinal demographic and clinical cohort study, a subset of 38 (8.2%) patients with priapism were identified among a cohort of 461 men with SCD. The patients with priapism were compared with the nonaffected men with respect to severity of disease expression, hematologic status, beta s globin gene haplotype, and the incidence of sickle-related major organ failure. The influence of the treatment modalities on outcome was also evaluated. RESULTS: Priapism occurred as a single episode in 24 patients, and in 14 as temporally clustered repeat episodes. Eighty-seven percent of those with priapism had sickle cell anemia (SS), an increased risk as compared with other variants of SCD (p = < 0.05). There were two distinct age-related patterns of disease expression. Eight patients were prepubertal; they experienced shorter episodes, involvement of the corpora cavernosa only, few recurrent episodes, and a good prognosis for future erectile function. Non-surgical therapy in children was associated with excellent results. In contrast, the 29 postpubertal adults often had involvement of the corpora cavernosa and corpus spongiosa (tricorporal disease) and half had prolonged episodes that lasted longer than 8 days. One pubescent patient had repeated episodes and became impotent. Prolonged or repeated episodes eventuated in impotence in 56%. Surgical intervention was not beneficial. Sickle cell-related organ failure such as stroke, chronic restrictive lung disease, chronic renal failure, and nonhealing leg ulcers was observed more frequently in men who had priapism. Death occurred in nine adult patients (25%) within 5 years of the first episode of priapism. CONCLUSION: Priapism in adult males identifies those at high risk for other sickle cell-related organ failure syndromes and, as such, is another complication indicative of severe disease. The dismal prognosis in SS adults requires better understanding of the precise pathophysiology of low-flow tricorporal priapism. Clarification of the mechanisms inducing the priapic state should lead to specific therapeutic maneuvers and an improved prognosis for this disabling condition.

Adolescent↗
PubMed1989

Cellular congenital mesoblastic nephroma: what are the options.

Cellular congenital mesoblastic nephroma is a potentially aggressive variant of the usually benign congenital mesoblastic nephroma. Our recent experience with 3 patients with cellular congenital mesoblastic nephroma prompted a critical review of the literature to evaluate risk factors for recurrence and present treatment programs. A total of 38 patients, including our 3 patients, with cellular congenital mesoblastic nephroma were divided into 2 groups: those with recurrent (7) and those with nonrecurrent (31) tumors. A statistical comparison of clinical and pathological data was performed. Of the 7 patients with local recurrence and/or pulmonary metastasis, 3 died. The average time to first recurrence was 5.4 months. Histological differences were not predictive of recurrent disease. Pathologically positive surgical margins (p less than or equal to 0.02) were the only statistically significant variable suggesting recurrent disease. While the presenting age was not predictive of recurrence (p equals 0.27), the relative risk of recurrence doubles in the first 3 months of life and quadruples after 6 months of life. Treatment programs also were evaluated. An infant with cellular congenital mesoblastic nephroma, regardless of age, is cured with surgery alone given clear pathological margins. In 4 of 5 children with recurrent tumors Wilms tumor treatment agents (vincristine and actinomycin D) failed to control local or distant disease. Of these cases 2 subsequently were treated with sarcomatous chemotherapy (vincristine, cyclophosphamide and doxorubicin) and both are in remission. These agents may prove to be more efficacious in the treatment of local or metastatic disease.

Combined Modality Therapy↗
PubMed1997

Variational Approach to Unsupervised Learning Algorithms of Neural Networks.

Variational approach in pattern recognition basing on a mean risk functional is applied to unsupervised learning algorithms for neural networks. The paper summarizes main statements and results of the approach: a structure of mean risk functionals relevant for the problem of grouping the multivariate data; optimum conditions; recurrent algorithms of stochastic approximation type for minimization of the functionals; and conditions ensuring convergence of the algorithms to appropriate solutions. Basing on this theory a general scheme is proposed and it allows to obtain neural networks whose adaptation laws arise as the recurrent unsupervised learning algorithms for suitably selected mean risk functionals. The well known Grossberg networks, counter-propagation networks, and Kohonen self-organizing networks are among them. Moreover the new variants of unsupervised-learning neural structures can be derived as it is demonstrated in the paper. The developed mathematical means can serve for theoretical justification of using such neural networks in data processing systems. Copyright 1997 Elsevier Science Ltd. All Rights Reserved.

Journal Article↗
PubMed1980

Small cell squamous and mixed small cell squamous--small cell anaplastic carcinomas of the lung.

Five patients are presented who had neoplasms which, by light microscopy and in two cases cytologically, appeared to be small cell anaplastic (polygonal and fusiform cell type) carcinomas of the lung. However, by electron microscopy, four of the carcinomas exhibited squamous characteristics including desmosomes and tonofilament bundles, and lacked demonstrable neurosecretory granules, suggesting that they were small cell squamous carcinomas. The fifth carcinoma contained cells with neurosecretory granules as well as cells demonstrating squamous differentiation. One patient died within 3 months of presentation. Three patients survived for approximately 18 months each; two received chemotherapy but one was treated by surgical resection alone. The fifth patient had a peripheral coin lesion which was treated by surgical resection only; he is alive without evidence of recurrent carcinoma 1 year after operation. We suggest that some carcinomas of the lung with the light-microscopic and cytologic appearance of small cell anaplastic carcinoma are actually small cell variants of squamous cell carcinoma and lack the characteristic neurosecretory granules of classic small cell carcinoma. The behavior of these tumors needs to be determined.

Aged↗
PubMed2004

Autoimmune liver disease.

PURPOSE OF REVIEW: Identify advances in diagnosis, treatment, and understanding of autoimmune hepatitis. RECENT FINDINGS: Autoimmune hepatitis can present as an acute or fulminant hepatitis in the absence of pre-existent fibrotic disease. Celiac disease can resemble it, and treatment must include corticosteroids. Centrilobular necrosis is within the histologic spectrum of autoimmune hepatitis, and variant syndromes may be refractory to conventional therapies. Discriminative indices developed by head-to-head comparisons between the classical disorders may be useful in identifying true variants, and antibodies to chromatin may have prognostic value in predicting relapse after drug withdrawal. Multiple drugs and infectious agents can trigger the disease, and cytokine imbalances are important pathogenic factors. Recurrent or de novo autoimmune hepatitis must be considered as a cause of graft dysfunction after liver transplantation. Pregnancy is generally well tolerated, and it may attenuate the disease. After transplantation, pregnancy should be deferred until after the second year. SUMMARY: Autoimmune hepatitis has diverse presentations and manifestations. It must be considered in all patients with acute and chronic liver disease and in all cases of allograft dysfunction after liver transplantation.

Journal Article↗