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PubMed1990

[Chorea mollis, a rare variant of chorea minor].

A 15-year-old boy was admitted at age 10 because of muscle weakness, choreatic involuntary movements, and a profound hypotonia. He was diagnosed as having chorea mollis, a rare variant of Sydenham's chorea. He made a full recovery and received prophylaxis with monthly injections of benzathinebenzyl penicillin for the next 5 years. Six months after discontinuation of the prophylaxis he had a recurrence. The choreatic movements were successfully treated with haloperidol. However, a hypotonia and mild psychiatric symptoms still persist one year later. The clinical course, observed in our patient, is in concordance with the results of recent studies, reporting, that a number of patients with Sydenham's chorea may be left with mild to moderate neurologic and psychiatric sequelae.

Adolescent↗
PubMed1986

[Light-induced postherpetic erythema exsudativum multiforme].

A 37-year-old man had erythema multiforme over a period of 20 years following recurrent herpes simplex infections. On the basis of the results of provocative UV-A tests as well as histological findings a diagnosis of photosensitive erythema multiforme was made. The erythema multiforme exsudativum like variant of polymorphous light eruption is discussed in the differential diagnosis.

Adult↗
PubMed2005

December 2004: one-year-old girl with aggressive skull tumor.

December 2004. Twelve-month old girl presented with recurrent subcutaneous lesion in the left parietal region, one year after excision of a "benign" tumor. An MRI demonstrated left temporo-parietal skull tumor infiltrating the soft tissue, surrounding craniotomy flap, and extending to the brain parenchyma. Biopsy revealed biphasic neoplasm displaying nests of poorly differentiated neuroblastic cells positive for synaptophysin and pigmented cuboidal epithelioid cell positive for keratins, epithelial membrane antigen and MHB-45. In addition, some neoplastic cells were immunoreactive for synaptophysin as well as HMB-45 and epithelial markers, suggestive of their origin from a common progenitor. Interestingly, cell with the neuroblastic immunophenotype displayed 80% nuclear MIB-1 reactivity indicating that the aggressiveness of the neoplasm was confined mostly to this pattern of differentiation. The overall histological features are consistent with a rare malignant variant of a melanotic neuroectodermal tumor of infancy.

Brain Neoplasms↗
PubMed1987

Host-clonal interactions in the generation of proviral gene deletion variants.

A nonproducer clone (clone A1) (from a retrovirus-infected guinea pig fibrosarcoma) has been described that under conditions of in vivo immunologic selection forms variants that lack the proviral gene. One trivial explanation for the apparent loss of the provirus from clone A1 is that clone A1 did not originate from a single cell. For evaluation of this possibility, subclones were derived from clone A1 and tested for tumor recurrence in nonimmune and virus-immune animals. Each of four subclones contained the A1 provirus and exhibited specific viral interference; tumor recurrences formed from each of these four subclones lacked the clone A1 provirus. Possible, when heterogeneous populations of retrovirus-infected cells are injected into nonimmune animals, some clones will elicit immunologic responses to retroviral antigens and subject other clones in the population to immunologic selective pressures. For testing this concept, clone A1 was injected in admixture with a producer clone (clone A4) into nonimmune Sewall Wright strain 2 guinea pigs. Tumors formed in nonimmune guinea pigs inoculated with clone A1 in admixture with clone A4 were shown to lack a detectable clone A1 provirus. The results supported the concept that a somatic mutational event (deletion of the proviral gene) occurs during growth of clone A1. When heterogeneous populations of retrovirus-infected cells are injected into animals, host-clonal interactions may occur leading to outgrowth of proviral gene deletion variants. These results supported the notion that interactions between tumor clones and the host can change the dominant clonal type of the tumor and provide a genetic basis for this change.

Animals↗
PubMed2006

Pigment synthesizing melanoma (so-called animal type melanoma): a clinicopathological study of 14 cases of a poorly known distinctive variant of melanoma.

AIMS: Pigment synthesizing melanoma (so-called animal type melanoma) (PSM) is a rare histopathological variant of melanoma so termed because of prominent melanin production and its similarity to a variant of melanoma seen in grey horses. The aim of this study was to report the clinicopathological characteristics of 14 cases of animal type melanoma. METHODS AND RESULTS: Six patients were female and eight were male with ages ranging from 5 to 52 years (mean 31 years, median 39 years). The head and neck represented the most common site. The clinical diagnosis was of melanoma in seven cases, blue naevus in three cases, benign naevus in three cases and a pigmented basal cell carcinoma in one case. The histological diagnosis of PSM was predicated on the basis of an asymmetrical, predominantly intradermal tumour formed of deeply pigmented, round or short, spindle-shaped dendritic melanocytes with some degree of hyperchromatism and a single nucleolus. Cytological atypia was always present but was not pronounced. A prominent population of macrophages was invariably present. Four tumours were compound and 10 tumours were predominantly intradermal. The mitotic count was usually low, ranging from 1 to 5 per 10 high-power fields (mean 2). Perineural and lymphovascular invasion was not seen. The Breslow thickness ranged from 1.1 to 7.5 mm (mean 3.3 mm). Follow-up was available in 13 patients. The median follow-up period was 5 years. Six patients had no recurrence, three had local recurrence in the form of satellite nodules adjacent to the scar, four had spread to the regional lymph nodes and one patient had distant metastases to the liver. There were no deaths. CONCLUSIONS: This study demonstrates that PSM is a distinctive, possible low-grade variant of melanoma usually lacking the histological features predictive of aggressive behaviour seen in ordinary melanoma. It should be managed in the same way as other melanomas with wide local excision.

Adolescent↗
PubMed2003

[Treatment of atrioventricular accessory pathways using catheter ablation: analysis of immediate and long-term results at the end of the learning curve period].

UNLABELLED: Immediate and long-term results of catheter ablation of atrioventricular accessory pathways (AP) are presented. METHOD: One hundred and seventy-one patients aged 41.8 +/- 14.4 years underwent catheter ablation of 179 AP. Right and left AP occurred simultaneously in 3 patients; thus 65 ablation procedures for 57 rights AP in 57 patients were compared with 125 ablation procedures for 122 left AP in 117 patients. RESULTS: Including repeated procedures ablation was successful in 116 (99%) patients with left AP and in 57 (100%) patients with right AP. First catheter ablation failed in 4 (7%) patients with right AP and in 4 (3.4%) patients with left AP (p = NS). Two of these patients with left AP and all 4 pts with right AP had successful reablation. AP conduction recurred after successful ablation in 7 (12.3%) patients with right AP and in u 5 (4.1%) patients with left AP (p = 0.1). Three patients with right AP did not undergo another ablation, other 9 patients with AP recurrence had successful reablation. Procedure time during left AP ablation was shorter (159.6 +/- 70.7 vs. 183.4 +/- 75.6 min.; p = 0.02) and number of RF current deliveries was lower during left AP ablation (9.3 +/- 8.5 vs. 13.3 +/- 11.8; p = 0.008) compared to right AP ablation. Fluoroscopy time during left AP ablation (22.4 +/- 19.1 min.) did not significantly differ from that during right AP ablation (20.9 +/- 17.1 min.). Concealed AP was present in 13 (22.8%) patients with right AP and in 59 (48.4%) patients with left AP (p = 0.002). Anatomico-functional variant of AP occurred in 5 (8.8%) patients with right AP and in 4 (3.3%) patients with left AP (p = NS). Atrial fibrillation complicated ablation procedure in 9 (15.8%) patients with right AP and in 7 (5.7%) patients with left AP (p = NS). During 30.3 +/- 17 (2-60) months follow-up period tachyarrhythmia associated with the presence of an AP occurred in 3 patients with right AP and in 1 patient with unsuccessful ablation of left AP. None of these patients underwent repeated ablation. CONCLUSION: Successful ablation of AP can be achieved successfully in 100%. Catheter ablation of right AP is generally more difficult and primary ablation failure and AP conduction recurrence is nonsignificantly more often. Irregularity of the tricuspid annulus, instability of the ablation catheter, presence of the conduction system, higher occurrence of anatomico-functional AP variants and sustained atrial fibrillation during the ablation procedure represent the main causes of this finding.

Adolescent↗
PubMed2002

An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.

OBJECTIVE: To investigate genetic susceptibility to recurrent fevers, generalized severe myalgia, and migratory erythema in an Israeli Arab child with no family history of similar disease. METHODS: DNA sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family. The TNFRSF1A gene was subsequently screened in 69 healthy Arab controls and 96 Caucasian controls. Formal forensic paternity testing was performed on the child. RESULTS: We found a de novo missense mutation in exon 3 of the TNFRSF1A gene, involving a novel C-->T transition encoding a Cys70Arg (C70R) variant, in the Israeli Arab patient. Eight of the common familial Mediterranean fever (FMF) gene MEFV mutations were excluded. This mutation was not present in the parents or siblings, or among the 69 healthy Arab controls. However, another TNFRSF1A variant, Pro46Lys (P46L), was present in 1 of the Arab controls. CONCLUSION: We have identified a TNFRSF1A mutation associated with periodic fever in an Arab patient, and a TNFRSF1A variant, which is variably pathogenic in Caucasians, in an Arab control. This is the first report of a de novo mutation in periodic fevers in general, and also of TRAPS in the Arab population. These findings demonstrate the need to include TRAPS in the differential diagnosis of recurrent fevers in this population.

Adolescent↗
PubMed2002

Short acting beta agonists for recurrent wheeze in children under 2 years of age.

BACKGROUND: Wheeze is a common symptom in infancy and is a common cause for both primary care consultations and hospital admission. Beta2-adrenoceptor agonists (b2-agonists) are the most frequently used as bronchodilator but their efficacy is questionable. OBJECTIVES: To determine the effectiveness of b2-agonist for the treatment of infants with recurrent and persistent wheeze. SEARCH STRATEGY: Relevant trials were identified using the Cochrane Airways Group database (CENTRAL), Medline and Pubmed. The database search used the following terms: Wheeze or asthma and Infant or Child and Short acting beta-agonist or Salbutamol (variants), Albuterol, Terbutaline (variants), Orciprenaline, Fenoterol SELECTION CRITERIA: Randomised controlled trials comparing the effect of b2-agonist against placebo in children under 2 years of age who had had two or more previous episodes of wheeze, not related to another form of chronic lung disease. DATA COLLECTION AND ANALYSIS: Eight studies met the criteria for inclusion in this meta-analysis. The studies investigated patients in three settings: at home (3 studies), in hospital (2 studies) and in the pulmonary function laboratory (3 studies). The main outcome measure was change in respiratory rate except for community based studies where symptom scores were used. MAIN RESULTS: The studies were markedly heterogeneous and between study comparisons were limited. Improvement in respiratory rate, symptom score and oxygen saturation were noted in one study in the emergency department following two salbutamol nebulisers but this had no impact on hospital admission. There was a reduction in bronchial reactivity following salbutamol. There was no significant benefit from taking regular inhaled salbutamol on symptom scores recorded at home. REVIEWER'S CONCLUSIONS: There is no clear benefit of using b2-agonists in the management of recurrent wheeze in the first two years of life although there is conflicting evidence. At present, further studies should only be performed if the patient group can be clearly defined and there is a suitable outcome parameter capable of measuring a response.

Adrenergic beta-Agonists↗
PubMed1996

Strategies to decrease the incidence of intra-abdominal recurrence in resectable gastric cancer.

Two main approaches are suggested to improve treatment results in resectable gastric cancer: extended lymphadenectomy and adjuvant antitumour therapy. Progress is to some extent stalled by the perception of gastric cancer as a pathophysiologically uniform disease; it has been demonstrated, however, that there are variants of gastric cancer associated with predominantly intra-abdominal spread or with haematogenous metastases. Recent clinicopathological studies have provided information about the mechanisms of this metastatic diversity. A review of clinical trials suggests that no single method of treatment can efficiently address all variants of gastric cancer spread, but new treatment strategies may be based on defining the pathophysiological variant of gastric cancer and selecting adjuvant therapy according to the most probable mode of tumour spread. Treatment should start with surgery which includes a 'reasonably' extended lymphadenectomy aimed at achieving an increased rate of curative resection and more accurate staging. Risk factors for peritoneal spread of tumour require the perioperative use of intraperitoneal chemotherapy. Subsequent adjuvant therapy may be indicated in patients at high risk of further cancer spread or occult metastases, as determined by pathological examination of the resected specimen.

Abdominal Neoplasms↗
PubMed2006

Desmoplastic small cell tumor of soft tissue: molecular variant of EWS-WT1 chimeric fusion.

A 7-year-old girl was hospitalized because of a tumorous mass in her left periorbital region. The tumor was removed by local excision. The soft-part tumor recurred in the parotid gland region 4 months later, and a second recurrence was noted on the left side of the neck 3 years and 3 months thereafter. The patient had not received chemotherapy or local irradiation. Histological and immunohistochemical examinations of the recurrent masses revealed morphological characteristics of small cell proliferation with desmoplastic stroma that were similar to those of the initial tumor. The cellular components showed immunoreactivity for desmin, cytokeratin, vimentin, and epithelial membrane antigen in part, but the cells were negative for myogenin, CD99, and neuron-specific enolase. These findings suggested a diagnosis of desmoplastic small cell tumor, despite its extra-abdominal location. The histological diagnosis was confirmed by reverse transcriptase polymerase chain reaction, which demonstrated an EWS-WT1 chimeric fusion gene. An in-frame fusion of EWS exon 9 and WT1 exon 8 was subsequently identified by cloning and sequencing. The chimeric fusion gene might be related to the tissue-specific phenotype of desmoplastic small cell tumors, although further investigation of this speculation is necessary.

Child↗
PubMed1999

Intraosseous squamous cell carcinoma arising in association with a squamous odontogenic tumour of the mandible.

We report a rare occurrence of intraosseous squamous cell carcinoma (SCC) arising in association with a squamous odontogenic tumour (SOT), which had not previously been documented in the literature. A 53-year-old man had, for 5 years, a well-demarcated radiolucency attached to the impacted third molar of the mandible. The enucleated specimen had a characteristic pattern of SOT, but in which a few epithelial islands showed atypical features suggestive of SCC. Intense p53-, proliferating cell nuclear antigen- and Ki-67-positive cells were detected in carcinoma areas. Within 2 months, aggressive bone destruction showing typical findings of intraosseous SCC appeared. The present tumour is presumably a malignant variant of SOT.

Ameloblastoma↗
PubMed1994

Well-differentiated (oncocytoid) neuroendocrine carcinoma of the larynx with multiple skin metastases: a brief report.

A 63-year-old woman presented with a history of increasing dysphagia of about two weeks duration. Laryngoscopy revealed a nonulcerated supraglottic epitheliomatous lesion that morphologically appeared well-differentiated and distinctly oncocytoid. Although the tumour lacked any criteria for malignancy such as cellular atypia, pleomorphism or necroses, it recurred twice after primary surgery and later gave rise to multiple painful skin metastases. The diagnosis of an oncocytoid differentiated neuroendocrine carcinoma of the larynx (laryngeal carcinoid) was made. Misinterpretation of laryngeal carcinoids is common, but can be avoided if one is familiar with this rare variant of laryngeal neoplasms.

Carcinoid Tumor↗
PubMed1982

[Gliomedullomyoblastoma. A contribution to the morphology and biological behavior of myogenic brain tumors (author's transl)].

On the basis of an own observation and 38 cases found in the literature problems of histogenesis, classification and biological behavior of myogenic brain tumors and mixed neoplasms with myogenic elements are discussed. In a 2-year-old boy, 2 months after first clinical symptoms, a tumor of the walls of the 4th ventricle had been removed. The growth showed a large variety of histological structures. Irregularly arranged bundles of long muscle fibers with centrally located nuclei and cross striation were the most striking feature. Large cells with prominent nucleoli resembling ganglion cells were identified electronmicroscopically as rhabdomyblasts. Other areas were composed of astrocytic elements or of honeycomb-like structures usually observed in oligodendrogliomas. In serial sections small cells with dark nuclei typical for medulloblastomas were found in small areas. The body died 15 months after the onset of symptoms. The autopsy revealed a relapse in midline structures of the cerebellum. The histological picture differed substantially from that of the primary neoplasm. It was composed only of small cells, showed a large number of collagenous fibers and corresponded to a demoblastic medulloblastoma. The histological variety is regarded as an expression of the pluripotency of neoplastic elements, which are evidently capable to form neuroectodermal as well as mesenchymal structures. It is emphasized that an overgrowth more anaplastic cells led to the described morphological changes. Gliomedullomyoblastoma is regarded as a special variant of medulloblastoma with an unfavourable prognosis.

Autopsy↗
PubMed2006

Radio-guided surgery for non-131I-avid thyroid cancer.

OBJECTIVE: In this paper we report in a larger series the use of radio-probe-guided surgery (RGS) in nonradioiodine avid, well-differentiated thyroid cancer (DTC). DESIGN: Thirty-seven patients with locoregional recurrent, nonradioiodine avid DTC were studied with (99m)Tc-sestamibi directed RGS using a handheld gamma probe as an intraoperative detector. OUTCOME: Twenty-three women and 14 men were followed after RGS for 35.4 +/- 12.5 months (range 9-57). There were 33 papillary (one "tall" cell variant), 2 follicular, and 2 Hürthle cell cancers. In 7 patients, thyroid cancer recurred in the neck while cervical lymph node metastases were found in 31 patients (one patient had papillary cancer in both the thyroid bed and cervical lymph nodes). Sixty-six discrete nodules ranging from 6 to 45mm (mean tumor diameter, 18.4 +/- 8.5mm) were identified by both high-resolution ultrasound and (99m)Tc-sestamibi probe-guided RGS. After RGS, Tg (thyroglobulin) fell in 33 of 37 patients and mean target=nontarget sestamibi uptake ratios decreased in all 37 patients ( p < 0.0001). CONCLUSION: These data confirm our earlier observations that a (99m)Tc-sestamibi intraoperative gamma probe can be used to identify and guide resection of recurrent tumor and involved lymph nodes in locoregional metastases of nonradioiodine-avid thyroid cancer.

Adenocarcinoma, Follicular↗
PubMed1999

Recurrent steroid-responsive trismus and painful ophthalmoplegia.

A 63-year-old woman experienced two episodes of trismus and painful ophthalmoplegia at an interval of six years. She suffered left visual loss, and enhanced CT scan and MR imaging revealed heterogeneous enlargement of the left extraocular muscles extending to the orbital apex. In addition, the left pterygopalatine fossa was filled with a mass isointense with muscle without evidence of surrounding tissue invasion; 67Ga scintigraphy showed high uptake in this lesion. Steroid administration dramatically resolved the trismus, and the mass in the orbit and extraorbit vanished completely. Orbital pseudotumor is characterized by self-limited, relapsing, steroid-responsive painful ophthalmoplegia, and this case could be a variant of this entity with inflammation extending into the extraorbital area.

Anti-Inflammatory Agents↗
PubMed2001

Brief-duration high-intensity chemotherapy for patients with small noncleaved-cell lymphoma or FAB L3 acute lymphocytic leukemia: results of cancer and leukemia group B study 9251.

PURPOSE: To define the activity and feasibility of brief-duration high-intensity chemotherapy for adults with small noncleaved, non-Hodgkin's lymphoma (SNC) and the L3 variant of acute lymphocytic leukemia (L3 ALL). PATIENTS AND METHODS: Seventy-five adults with either SNC or L3 ALL (median age, 44 years) were treated with an aggressive regimen that consisted of one cycle of cyclophosphamide and prednisone followed by cycles containing either ifosfamide or cyclophosphamide; high-dose methotrexate, vincristine, dexamethasone, and either doxorubicin or etoposide/cytarabine; or intrathecal triple therapy with prophylactic CNS irradiation. RESULTS: All 24 patients with L3 ALL and the 30 of 51 patients with SNC confirmed by central histologic review were included in this analysis. Forty-three of 54 patients achieved complete response (CR) (18 of 24 with ALL and 25 of 30 with SNC), and 28 are alive and in continuous CR with a median follow-up of 5.1 years. Hematologic toxicity was profound, and nonhematologic toxicity was notable, with 10 of 75 patients treated developing significant neurologic toxicity consisting of transverse myelitis in five patients, CNS toxicity in three, and severe peripheral neuropathy in two. All patients who did not achieve CR died of the disease, and all recurrences occurred within 16 months of the end of treatment. Responses and toxicities were similar in the patients with both lymphoma and leukemia. CONCLUSION: Aggressively delivered chemotherapy is potentially curative in as many as half of patients with SNC and the L3 ALL variant. This treatment regimen had considerable neurologic toxicity and has been modified.

Adult↗
PubMed2000

Malignant pigmented clear cell epithelioid tumor of the kidney: clear cell ("sugar") tumor versus malignant melanoma.

A 73-year-old woman presented with an hemorrhagic kidney tumor initially interpreted as a renal cell carcinoma (RCC). A retroperitoneal recurrence infiltrating the duodenal wall was made up of clear cells, some of which contained Fontana-Masson positive pigment, immunopositive for HMB-45, S-100 protein, actin, and vimentin. The same immunohistochemical profile was retrospectively reproduced in the kidney tumor, where melanosomes were also found ultrastructurally. Lipomatous differentiation was not observed. There was no history of malignant melanoma (MM), or stigmata of tuberous sclerosis. The patient died of disease 5 years after the initial diagnosis. This neoplasm can be considered as a malignant, pigmented, clear-cell epithelioid variant of angiomyolipoma, or "sugar" tumor of the kidney, with the peculiarity of having a previously unreported component of pigmented cells visible on light microscopy. This finding raises the possibility that the exceptional cases of MM reported in renal parenchyma may be pigmented variants of epithelioid angiomyolipoma rather than true MM.

Aged↗