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PubMed2003

Duration of antiviral therapy for cholestatic HCV recurrence may need to be indefinite.

Progressive liver allograft injury related to hepatitis C virus (HCV) recurrence occurs in 20% to 30% of liver transplant recipients within the first 5 years. In particular, the subset of patients who develop the severe cholestatic variant has an extremely high mortality. We report our center's experience with 7 cholestatic patients who were treated with interferon alfa-2b (3 million IU three times per week initially) in combination with ribavirin. In 4 of the 7 patients, HCV-RNA in serum became undetectable, and in an additional patient, normalization of serum bilirubin was achieved despite persistent viremia. Discontinuation of antiviral therapy by patient choice, intolerance of side effects, or occurrence of infection were followed temporally by rapid relapses of the cholestatic syndrome, allograft failure, and death. The only 2 patients alive in remission of this syndrome have been maintained on antiviral therapy for an average of 32 months. Thus, based on our experience, we recommend that duration of antiviral therapy in the subset of patients with cholestatic HCV recurrence should be indefinite.

Antiviral Agents↗
PubMed2004

Localized nodular vasculitis: a new variant of localized cutaneous polyarteritis nodosa?

Cutaneous polyarteritis nodosa (PAN) was first described by Lindberg in 1931. This initial description was followed by many case reports and series, including those of Díaz-Pérez and Winkelmann, who used a strict definition based on cutaneous involvement, and Chen and Daoud who classified the condition into three well differentiated groups. The cutaneous form of PAN is distinct from the systemic form due to its chronic, recurrent, benign nature, the absence of internal organ involvement, and the presence of inflammation in medium and small vessels of the deep dermis and panniculus. In the present article we report our findings for 12 patients with a variant of cutaneous PAN consisting of painful erythematous nodular lesions not preceded or followed by livedo reticularis, that were located exclusively on the lower third of the legs and responded slowly to treatment with corticosteroids and immunosuppressants.

Adolescent↗
PubMed2002

Polymorphisms of the angiotensinogen gene, the endothelial nitric oxide synthase gene, and the interleukin-1beta gene promoter in women with idiopathic recurrent miscarriage.

Interleukin (IL)-1beta, angiotensinogen (Agt), and endothelium-derived nitric oxide synthase (eNOS) are thought to be involved in idiopathic recurrent miscarriage (IRM). We investigated the correlation between IRM and common polymorphisms in Agt, Nos3 and IL-1beta genes: one polymorphism in the promoter region of the IL-1beta gene, one in exon 2 of the Agt gene, and one in exon 7 of the Nos3 gene. A total of 130 women with a history of IRM and 67 healthy control women were included in the study. Genotyping for the C/T transition at position -511 in the promoter region of IL1B, for the single base M235T polymorphism of Agt, and for the missense Glu298Asp variant of Nos3 was performed using PCR, an allele-specific oligonucleotide hybridization assay, and pyrosequencing, respectively. Allele and genotype frequencies of all polymorphisms were similar among women with IRM and controls. Between women with primary and secondary recurrent miscarriages, no statistically significant differences between allele and genotype frequencies were observed. Despite promising experimental data, our data fall short of showing any significant association between a variant of the promoter region of IL1B, the M235T polymorphism of Agt, and the Glu298Asp missense variant of Nos3 and the occurrence of IRM.

Abortion, Habitual↗
PubMed1980

Recurrent arteriotracheal fistula.

A 28-year-old man with a tracheostomy had two episodes of hemorrhage from an arteriotracheal fistula secondary to erosion of the cannula tip into the right subclavian and the right common carotid arteries. Arteriotracheal fistual formation is associated with high pressure cuffs, low tracheostomies, excessively long or curved tracheostomy tubes, mediastinal infections, and superiorly placed anatomic variants of the innominate artery. Repeat fistula formation can be anticipated until the underlying factor is eradicated.

Adult↗
PubMed2006

Apical sparing in tako-tsubo cardiomyopathy.

BACKGROUND: Tako-tsubo cardiomyopathy (TTC) is an acute reversible cause of segmental myocardial dysfunction that is poorly understood. We have noted a variant of this condition where a tiny segment at the apex retains some contractile function. This paper delineates the frequency of this variant relative to the classical form and the clinical differences between patients suffering from the two forms. METHODS: All cases of TTC (n = 35) were identified from our infarct angiography database and separated on the basis of apical sparing (n = 14) or no apical sparing (n = 21). RESULTS: Compared with the classical form, those with apical sparing were significantly younger (63 +/- 12 vs 72 +/- 13 years) and were more likely premenopausal (5/14 vs 0/21) and had higher ejection fractions (35 +/- 6% vs 32 +/- 4%). There was a trend towards higher recurrence (4/21 vs 0/14). There were no differences in time or season of presentation, precipitant stressor, premorbid drug therapy, haemodynamics at catheterization or acute outcomes. CONCLUSION: The apical sparing variant of TTC is common, accounting for 40% of cases. While the patients are younger and more likely premenopausal, there are no other distinguishing features between the classical and the variant form.

Age Factors↗
PubMed2006

Recurring localized scarlatiniform scaled erythema Féréol-Besnier.

Recurring scarlatiniform scaled erythema of Féréol-Besnier is a rare disease characterized by recurrent episodes of a prodromal phase with general malaise, head and muscle aches, gastrointestinal complaints and fever followed by an erythematous rash leading to extensive desquamation of the involved skin. It exists in a generalized and localized variant, the latter mainly involving the hands and feet. Its cause is unknown, although it has been speculated that a hyperergic reaction to infectious agents or medications may be etiopathologically involved. A typical case of the localized variant of this obscure disease is described and the common literature is reviewed.

Diagnosis, Differential↗
PubMed1994

Characterization of tamoxifen stimulated MCF-7 tumor variants grown in athymic mice.

The non-steroidal antiestrogen tamoxifen (TAM) is successfully used to treat all stages of breast cancer in both pre- and postmenopausal women. Unfortunately, most women treated with TAM eventually develop resistant tumor recurrences which require intervention with a second-line endocrine therapy, or cytotoxic chemotherapy if the recurrence is completely endocrine insensitive. There is evidence that some recurrences may in fact be TAM stimulated. MCF-7 human breast cancer cells grown as solid tumors in athymic mice chronically treated with TAM reproducibly develop a TAM stimulated phenotype (Osborne et al., Eur J Cancer Clin Oncol 23:1189-1196, 1987; Gottardis and Jordan, Cancer Res 48: 5183-5187, 1988; Osborne et al., J Natl Cancer Inst 83:1477-1482, 1991; Wolf et al., J Natl Cancer Inst 85:806-812, 1993). Tumors of this type may provide a useful model for a subset of therapeutic failures in the clinic. Therefore, we have extensively studied this model in an attempt to define the mechanism or mechanisms leading to TAM stimulated growth. In this paper we describe the characteristics of 4 TAM stimulated MCF-7 tumor variants. All of these tumors are growth stimulated by TAM, but vary in their response to estradiol (E2) treatment, and grow poorly in placebo treated hosts. All tumor variants express estrogen receptor (ER) RNA and protein, which at the RNA level appear to be down regulated by TAM, and to a greater extent by E2. All tumors also express epidermal growth factor receptor (EGFR) RNA, which is down regulated by TAM, and further down regulated by E2. However, among the tumor variants analyzed, ER and EGFR levels appear to be inversely related. Further, despite the expression of ER by all 4 TAM stimulated tumor variants, E2 induction of progesterone receptor expression is very weak or entirely absent.

Animals↗
PubMedDate not supplied

Verrucous carcinoma of the oral cavity.

Since verrucous carcinoma was first identified as a distinct clinicopathologic entity, a great deal of confusion has developed in interpreting the proper criteria for diagnosis. Various authors, therefore, have developed considerably different concepts of the features that make this lesion a unique variant of squamous cell carcinoma. Consequently, there is great confusion in the literature as to the appropriate therapeutic approach, the incidence of recurrence, and the frequency of anaplastic transformation of verrucous carcinoma. The literature was reviewed to identify all cases of verrucous carcinoma of the oral cavity that appear to meet the clinical and histopathologic criteria for this lesion as originally set forth by Ackerman. The problems encountered in arriving at the diagnosis of verrucous carcinoma are discussed. Cases with at least a 1-year reported follow-up were grouped according to the primary modality of therapy employed and were evaluated as to the effectiveness of the initial therapy. The frequency of anaplastic transformation following radiation therapy is also addressed.

Adult↗
PubMed1995

Cystic Squamous Cell Carcinoma of the Thyroid A Possible New Subgroup of Intrathyroidal Epithelial Thymoma.

In the thyroid gland, both squamous cell carcinoma and intrathyroidal epithelial thymoma are rare tumors with squamous features, but their prognoses differ; the former is usually fatal, and the latter is favorable. We describe a 38-yr-old female patient with a cystic tumor diagnosed cytologically as squamous cell carcinoma, who was treated with subtotal thyroidectomy. The tumor was located intrathyroidally in the middle third of the left lobe, and no invasion to the surrounding tissues was found. Histologic examination disclosed a cyst lined by epithelial cells with squamous cell differentiation. The tumor cells had ill-defined cell borders and large nuclei with prominent nucleoli. Invasion of the tumor capsule, a few mitoses, and infiltration of lymphocytes in the tumor periphery were noted, but neither necrosis nor metastasis to lymph nodes was observed. The patient has been free from recurrence for 3 yr after thyroid lobectomy. We propose that this type of cystic intrathyroidal squamous cell carcinoma may represent a cystic variant of intrathyroidal epithelial thymoma.

Journal Article↗
PubMed2006

[Cheilitis granulomatosa Melkersson-Rosenthal syndrome].

Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, recurrent paralysis of the facial nerve and lingua plicata. The complete triad only occurs in 25% of MRS cases. Monosymptomatic or oligosymptomatic variants are more frequent; other findings include granulomas in other facial sites, regional lymphadenopathy, fever, psychotic disorders and hyperplastic gingivitis are associated with MRS. This can be a diagnostic challenge. The etiology and pathogenesis of MRS are unknown. Corticosteroids or clofazimine appear the best therapeutic options.

Adrenal Cortex Hormones↗
PubMed2026

sWGS Identifies a Copy-Number-High Subset of TP53-mutated Multiple-Classifier Endometrial Carcinomas With Adverse Clinicopathological Features.

TP53-mutated "multiple-classifier" endometrial carcinomas represent a diagnostically challenging subgroup within current molecular classification algorithms. Although these tumors are assigned to POLE-mutated or mismatch repair-deficient categories according to current ESGO/FIGO-based algorithms, their biological heterogeneity remains incompletely characterized. Herein, we retrospectively analyzed TP53-mutated multiple-classifier endometrial carcinomas identified through routine molecular profiling at our institution between 2022 and 2025 using an integrated histopathological, immunohistochemical, targeted sequencing, and shallow whole-genome sequencing approach. Copy-number alteration-high (CNA-high) status was defined as ≥5 large-scale genomic alterations, corresponding to copy-number gains or losses ≥3 Mb within a single chromosomal arm excluding whole-arm alterations. Among 33 analyzable TP53-mutated multiple-classifier endometrial carcinomas, sWGS identified 12 CNA-high tumors (36.4%) and 21 CNA-low tumors (63.6%). CNA-high tumors were more frequently non-endometrioid, high-grade, and advanced-stage according to FIGO 2023. They showed higher TP53 variant allele frequencies (VAF) and higher TP53 VAF-to-tumor-cellularity ratios. After a median follow-up of 12.8 months, recurrences (6/33; 18.2%) and disease-related deaths (3/33; 9.1%) were observed in the CNA-high subgroup, whereas no recurrence or disease-related death was observed among CNA-low patients. These findings indicate that TP53-mutated multiple-classifier endometrial carcinomas comprise biologically distinct subsets that are not fully captured by current 4-tier TCGA-based molecular classification and ESGO-based risk stratification. In this cohort, sWGS identified a CNA-high group with adverse clinicopathological features and clinical events suggesting a potentially more aggressive clinical course. Integration of genome-wide copy-number profiling may therefore refine the biological interpretation of TP53 alterations in multiple-classifier endometrial carcinomas and warrants validation in larger multicenter cohorts.

TP53↗
PubMed1985

Primary mesonephric carcinoma of the female urethra.

We report the sixth case of mesonephric carcinoma of the female urethra, which is a rare urethral tumor arising from embryonal remnants of the wolffian or mesonephric duct. The 5 cases previously reported are reviewed. Despite the over-all high stage and entire urethral location of these tumors at presentation, their innate biological malignant potential appears to be much less than the usual variants of urethral cancer. Radical surgical procedures appear to offer an excellent prognosis with a 5-year survival rate without evidence of recurrent disease approaching 80 per cent.

Adult↗
PubMed1998

Human immunodeficiency virus infection and pulmonary hypertension: two new cases and a review of 86 reported cases.

In this article, we describe pulmonary hypertension in two men (31 and 43 years of age) with human immunodeficiency virus (HIV) infection who were examined at Mayo Clinic Rochester. Among 88 reported cases (including the two current ones) of HIV- or acquired immunodeficiency syndrome (AIDS)-associated pulmonary hypertension, 61% were male; the age range was 2 to 56 years (mean, 32). Dyspnea was the usual initial symptom. Of the 74 patients in whom pulmonary artery pressure was recorded or calculated by echocardiography, systolic pressures ranged from 49 to 118 mm Hg (mean, 68). Of the 33 cases in which lung tissue was evaluated microscopically, 28 (85%) were of the plexogenic variant of pulmonary arterial hypertension. Of the other five cases examined histologically, three consisted of thrombotic pulmonary arteriopathy (one was due to recurrent thromboembolism, and the other two were due to in situ thrombosis), and two were of pulmonary venoocclusive disease. No correlation existed between either CD4 counts or a history of pulmonary infections and the development of pulmonary hypertension. In 15 of the 88 patients (17%), confounding factors for hypertensive pulmonary vascular disease were present, including coexisting liver disease in 13 and coagulation abnormalities in 2. In 83% of the patients, the development of pulmonary hypertension seems to have been related primarily to the chronic HIV infection. Pulmonary hypertension was more rapidly progressive in patients with HIV or AIDS than in those with primary pulmonary hypertension; the reported time intervals between onset of symptoms and diagnosis were 6 months and 30 months, respectively. The 1-year survival rate for patients with HIV and pulmonary hypertension was 51%, based on the follow-up data compiled from the 63 patients in whom it was described; this compares with a 1-year survival rate of 68% for patients with primary pulmonary hypertension. Death was considered a direct consequence of pulmonary hypertension in 29 (76%) of the 38 fatal cases.

Adult↗
PubMed1997

Mucin-hypersecreting intraductal neoplasms of the pancreas: a precursor to cystic pancreatic malignancies.

BACKGROUND: Muncin-hypersecreting intraductal pancreatic neoplasms were first described in 1982 and have been observed in increasing numbers since. They are observed primarily by endoscopic retrograde cholangiopancreatography (ERCP) and are characterized by an intraductal papillary neoplasm that secretes thick mucin, causing pancreatic duct dilatation and obstructive pancreatitis. METHODS: Twenty patients are presented, 14 male and six female, with an average age of 59 +/- 11 years. All patients presented with abdominal pain, and most had nausea and vomiting, weight loss, and documented pancreatitis. Of the preoperative studies, ERCP was positive in all patients. Computed tomography scan, endoscopic ultrasonogram, and cytologic findings were less sensitive. Tumor markers were only positive in one patient. All 20 patients were treated surgically. Nine underwent Whipple procedure, one patient had a total pancreatectomy, and nine had distal pancreatic resections. The first patient in the series did not have a pancreatic resection, and his disease evolved into a lethal cystadenocarcinoma causing his death 99 months later. RESULTS: Histopathologic findings were interpreted as borderline malignant in 17 of the 20 patients, and three patients had evidence of invasive adenocarcinoma. Two of these three patients had nodal or distant metastases at the time of diagnosis, and all three died of adenocarcinoma. Seventeen of the patients are alive and well, although two of three with positive pancreatic margins have had recurrent symptoms and have been successfully reresected. CONCLUSIONS: The mucin-producing intraductal papillary tumor of the pancreas is a newly described variant of pancreatic cancer. It presents with symptoms of pancreatitis and has a progressive but more indolent course than the more lethal invasive ductal cancers. Patients with unexplained pancreatitis should undergo ERCP investigation, and aggressive surgical therapy should be carried out because the prognosis for this lesion, when appropriately treated, is more favorable than the usual pancreatic cancer.

Abdominal Pain↗
PubMed1999

Villoglandular papillary adenocarcinoma of the uterine cervix.

Villoglandular papillary adenocarcinoma of the uterine cervix was recently (1989) described by three main histological features: exophytic proliferation, papillary architecture and mild to moderate cellular atypicality. The authors report a case of villoglandular papillary adenocarcinoma, clinical stage IB, which was peculiar because of its association with a co-existing and simultaneously discovered invasive squamous cell carcinoma. These two patterns were juxtaposed and not intermingled. The patient was treated with radical hysterectomy followed by vaginal radiation therapy. She remains without evidence of recurrence after 12 months of follow-up. Five main clinicopathological features of the villoglandular papillary adenocarcinoma could be stressed: rare histological variant (72 described cases), young age of patients (25-45 years old), superficial stromal invasion, usual association with other tumoral patterns (in situ or invasive adenocarcinoma as well as in situ or invasive squamous cell carcinoma) and excellent prognosis. For selected cases, a conservative surgical approach (cervical conization) was possible.

Adenocarcinoma, Papillary↗
PubMed1999

Molecular analysis of chromosomal breakpoints in three examples of chromosomal translocation involving the TEL gene.

The TEL gene is involved in several chromosomal abnormalities of human hematopoietic malignancies. The chromosome 12 breakpoints frequently lie within the fifth intron of the gene, particularly in the most frequent translocation involving TEL, the t(12;21)(p13;q22). In order to search for a peculiar mechanism involved in the genesis of these translocations, we have established the sequence of two t(12;21) and a t(9;12)(q24;p13) breakpoints. Our data do not reveal the involvement of VDJ recombinase activity or Alu sequences but favor the occurrence of staggered breaks and DNA repair activity in the genesis of these translocations.

Alleles↗
PubMed1998

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

Mutations in the type VII collagen gene (COL7A1) have been shown to underlie different variants of dystrophic epidermolysis bullosa (DEB). Examination of the genetic database indicates that most of the mutations are family specific, with few recurrent mutations. To facilitate further refinement of genotype/phenotype correlations in DEB, we have examined a cohort of nine families with DEB (seven recessively and two dominantly inherited) by a mutation detection strategy based on polymerase chain reaction amplification of COL7A1 genomic sequences, followed by heteroduplex scanning and direct nucleotide sequencing. The results revealed 16 allelic mutations, 11 of them being novel, previously unpublished. The genetic information was also used for prenatal testing in a family at risk for recurrence of a severe, Hallopeau-Siemens type of RDEB. These data contribute to the expanding database of COL7A1 mutations in DEB.

Adult↗