Pre-eclampsia and peripartum cardiomyopathy in molar pregnancy: clinical implication for maternally imprinted genes.

Molar pregnancies are associated with increased maternal complications, notably pre-eclampsia, but peripartum cardiomyopathy has been rarely observed. Here we report on a 34-year-old woman, gravida 2 para 1, who presented to our obstetric clinic for routine screening at 16 weeks of gestation. Elevated maternal serum alpha-fetoprotein and free beta-human chorionic gonadotropin were observed. Amniocentesis revealed a triploid constitution (69,XXX) and ultrasound examination showed growth restriction, fetal anomalies, placentomegaly and a total placenta previa. On admission at 18 weeks' gestation, the patient developed vaginal bleeding and pre-eclampsia. She underwent a Cesarean delivery and 6 h later developed congestive heart failure requiring intensive care support. Molecular analysis of the conceptus and parental DNA demonstrated an excess of paternal genomic contribution. The over-representation of the paternal chromosome complement may support the role of genomic imprinting in the clinical course of this case.

Motility-related protein-1 (MRP-1/CD9) expression can predict disease-free survival in patients with squamous cell carcinoma of the head and neck.

CD9 is a transmembrane protein that has been implicated in cell adhesion, motility and proliferation, and numerous studies have demonstrated the prognostic value of its expression in different solid tumours. The purpose of this study is to determine the predictive value of CD9 in squamous cell carcinoma (SCC) of the head and neck. A total of 153 cases were examined for CD9 expression using immunohistochemistry applied on formalin-fixed, paraffin-embedded tissue. Cases were stratified in two categories depending on CD9 expression, as positive (>/=50% positive cells) or reduced (<50%). In all, 108 cases were positive for CD9 (85 cases with membranous, and 23 with both membranous and cytoplasmic staining) and 45 reduced expression. Reduced CD9 expression was significantly associated with high grade (P=0.0007) and lower disease-free survival (DFS) (P=0.017). The latter retained its significance in the multivariate analysis. When the 23 cases with both membranous and cytoplasmic patterns were studied as a separate subgroup, there were significant associations between CD9 expression and tumour grade (P=0.025) (95% CI 11-68), tumour stage (P=0.08) (95% CI 3.5-86) and the occurrence of any failure (P=0.083) (95% CI -1.7-57). Immunohistochemical CD9 expression proved to be an independent prognostic factor in SCC of the head and neck, and it may detect patients at a high risk of recurrence. In addition, the cytoplasmic pattern seems to have an even more significant value. However, this finding is limited to the small number of cases with this pattern.

High efficacy of photodynamic therapy on rat endometrium after systemic administration of benzoporphyrin derivative monoacid ring A.

BACKGROUND: The aim of this study was to evaluate the effect of the benzoporphyrin derivative monoacid ring A (verteporfin)-mediated photodynamic therapy (PDT) on rat endometrium and to determine the optimal drug concentration for endometrial ablation. METHODS: Five minutes after i.v. injection of different concentrations of verteporfin into 24 female Sprague-Dawley rats, 630 nm light treatment was delivered for 500 s (120 J/cm2) to the left horn of the uterus. The 24 rats were divided into six groups according to the drug dose injected, four rats per group: group I (2 mg/kg), group II (1 mg/kg), and groups III, IV, V and VI with 0.5, 0.25, 0.125 and 0.0625 mg/kg respectively. Four days later, the rat uteri were analysed by light microscopy. RESULTS: Endometrial destruction was seen in all six groups, with the most significant result in group I (P<0.008). Conservation of the myometrium was most significant in groups III, IV, V and VI. Acute inflammatory cells in the stromal endometrium were recorded mainly in groups I and II. However, the drug dosage that was most significant in destroying the glands with conservation of the myometrium and not causing severe inflammation was between 0.5 and 0.125 mg/kg. CONCLUSIONS: Verteporfin was effective in endometrial ablation in all our animal groups, and the dose range of 0.5-0.125 mg/kg appeared to be adequate. This observation will have to be scaled for clinical application.

Myelodysplastic syndrome: review of the cytogenetic and molecular data.

Myelodysplastic syndrome (MDS) is a monoclonal disorder of the pluripotent stem cell that frequently evolves into acute leukemia. MDS is characterized by trilineage dysplasia and by ineffective hematopoiesis. The etiology of MDS is poorly understood. However, the frequent association of chromosomal abnormalities (deletions, inversions, translocations, trisomies and monosomies) with MDS suggests that an oncogene, or a tumor suppressor gene might be involved in the pathogenesis and evolution of this disorder. This review summarizes the clinical, laboratory, chromosomal and prognostic findings of some of the cytogenetic abnormalities such as; 20q deletion, chromosome 5, 7 and 3 abnormalities, 17p-syndrome, trisomy 8, and loss of Y chromosome. In addition, this review goes into the discussion of the most recent development in the field of molecular biology to understand some of the mechanisms resulting in the development and progression of MDS.

Glassy cell carcinoma of the endometrium: a case report and review of the literature.

Endometrial glassy cell carcinoma (GCC) is a rare neoplasm, with 11 cases reported in the literature. Although GCC is considered to be a poorly differentiated variant of adenosquamous carcinoma, its real nature is still debatable. We report a case of GCC of the endometrium in a 60-year-old woman and review the literature. The patient presented with vaginal bleeding, and pelvic computed tomographic scan showed a polypoid lesion in the uterine fundus. Histologically, the tumor showed 2 components: a moderately differentiated adenocarcinoma with extensive areas of squamous metaplasia (adenoacanthoma) and a GCC. The clinical stage of the patient's disease was IB as classified by the International Federation of Gynecology and Obstetrics. She was treated by a total abdominal hysterectomy, bilateral salpingo-oophorectomy, and pelvic radiation therapy. The patient was still alive and free of disease at 5 years of follow-up.

Testicular atrophy in 80 HIV-positive patients: a multivariate statistical analysis.

This retrospective study of risk factors for testicular atrophy in HIV-infected men investigates the relationship between complications of AIDS such as wasting or opportunistic illness and testicular atrophy. Microscopic sections of the right testis were evaluated for testicular atrophy by assessing the mean score in each of 80 selected HIV-infected patients who underwent an autopsy during a one-year period. A significant association was observed between testicular atrophy and body mass index (BMI) (P=0.0496). Thus, underweight patients with HIV infection were 3.52 times more likely to have testicular atrophy than those with acceptable body weight. Other significant associations between other variables were not found.

Cytochemical staining and flow cytometry methods applied to the diagnosis of acute leukemia in the pediatric population: an assessment of relative usefulness.

BACKGROUND: Cytochemical staining has been used in the diagnosis of acute leukemia for more than 20 years. The general availability of flow cytometers and an extensive panel of antibody reagents useful for characterizing blood cell lineage question the usefulness of continuing routine use of the cytochemical staining for the diagnosis of acute leukemia. PATIENTS AND METHODS: Test results were evaluated in 122 (n = 122; 112 with acute lymphocytic leukemia and 10 with acute myeloid leukemia) patients selected from among 320 patients with acute leukemia at Texas Children's Hospital in 1997 and 1998. Results were selected for review if the clinical encounter represented the initial diagnostic work-up and if data were available from cytochemical staining and flow cytometry studies. RESULTS: Cell lineage classification derived from flow cytometry and cytochemical stains were in agreement in all cases. Definitive diagnoses were feasible using flow cytometry results alone in 120 of 122 patients (98.4%) as compared with only 99 of 122 patients (81.2%) when only cytochemical staining results were considered. In two patients with inconclusive flow cytometry results, cytochemical staining alone provided information sufficient for diagnosis. CONCLUSIONS: Results from this study indicate that with few exceptions, flow cytometry studies alone provide sufficient information for diagnosis and management of acute leukemia in children. Nevertheless, cytochemical staining should be available for those cases in which flow cytometry results fail to allow a definitive diagnosis. A modified testing protocol is recommended.

A spectrum of histopathologic findings in autoimmune liver disease.

We retrospectively studied 42 liver biopsy specimens from 39 patients who met serologic and histologic criteria of autoimmune liver diseases. We found 10 cases of overlap syndrome (OLS), 10 autoimmune cholangitis (AIC), 10 primary biliary cirrhosis (PBC), and 9 autoimmune hepatitis (AIH) type 1. The following results were obtained: (1) Granulomas and biliary duct lesions were more prominent in PBC and AIC than in OLS and AIH. (2) Bile duct loss was not observed in AIH cases. (3) Features of hepatocellular damage such as piecemeal necrosis, spotty lobular necrosis, and confluent necrosis, were much more prevalent in OLS and AIH than in PBC and AIC. (4) HLA-DR antigen expression by hepatocytes was more frequent in AIH and OLS, whereas the expression of the same antigen by the bile duct epithelium was more frequent in PBC and AIC. We conclude there is a morphologic spectrum in autoimmune liver diseases, in which PBC forms one end of the spectrum, AIH the other, OLS the middle but closer clinically and histologically to AIH than to PBC, and AIC, which seems to be an antimitochondrial antibody-negative subtype of PBC.

Calretinin as a marker for cardiac myxoma. Diagnostic and histogenetic considerations.

To study the usefulness of calretinin as an immunohistochemistry marker in the diagnosis of cardiac myxoma (CM) and the origin of myxoma cells, we examined 24 CMs and 9 fetal hearts with immunohistochemical methods on formalin-fixed paraffin-embedded tissues. We compared 24 CMs with 10 mural thrombi, 6 jaw myxomas, and 2 papillary fibroelastomas. Calretinin expression was identified in 100% of CMs and was negative in all cases of mural thrombi, jaw myxoma, and papillary fibroelastoma. Calretinin expression by the neoplastic cells in CM was strong and diffuse and had a cytoplasmic and a nuclear pattern. Calretinin expression in fetal hearts was found in autonomic ganglia cells in the subepicardial tissue of the atria and atrial appendages, along the interatrial and atrioventricular sulci, and in the atrial septum. Results clearly indicate that calretinin can be used as a marker for the diagnosis of CM and that it is a powerful tool for the differential diagnosis, most importantly with mural myxoid thrombi. Furthermore, the positive expression of calretinin by the autonomic neurons in the fetal heart and CM supports the concept that myxoma cells may originate from endocardial sensory nerve tissue.

Primary pulmonary mucosa-associated lymphoid tissue lymphoma with associated fungal ball in a patient with human immunodeficiency virus infection.

We describe a case of primary mucosa-associated lymphoid tissue lymphoma of the lung in a 44-year-old man with human immunodeficiency virus. Low-grade pulmonary lymphomas in human immunodeficiency virus-positive patients are rare and are described most commonly in pediatric patients. The gross, histologic, and molecular features of this unusual case are described.

Natural killer-cell lymphoma involving the gynecologic tract.

Non-Hodgkin lymphomas (NHL) can involve the gynecologic tract, most often as a manifestation of systemic involvement, and most cases reported have been of B-cell lineage. We describe 2 women with natural killer (NK)-cell lymphoma involving the gynecologic tract that initially presented with vaginal bleeding. In case 1, the patient had a stage IE nasal-type NK-cell lymphoma involving the cervix. The tumor was composed of medium-sized, irregular lymphoid cells with angioinvasion and necrosis. In case 2, the patient had a stage IV blastoid NK-cell lymphoma/leukemia infiltrating all organs in a hysterectomy and bilateral salpingo-oophorectomy specimen. Subsequent biopsy specimens revealed that the bone marrow and lymph nodes were also involved. The neoplasm was composed of small to medium lymphoid cells with fine nuclear chromatin. Case 1 was assessed immunohistochemically and the neoplastic cells were positive for CD3, CD56, and TIA-1. Case 2 was analyzed using both immunohistochemical and flow cytometry methods. The neoplastic cells were positive for cytoplasmic CD3, CD4, CD7, CD43, CD45, and CD56 and were negative for surface CD3. Both cases were negative for Epstein-Barr virus (EBV) ribonucleic acid (RNA) and molecular studies showed no evidence of T-cell receptor gamma chain gene rearrangements. The immunophenotype and absence of T-cell receptor gene rearrangements support NK-cell origin. We report these cases to illustrate that NK-cell lymphomas can involve, and rarely arise in, the gynecologic tract.

Inherited giant platelet disorders. Classification and literature review.

Inherited giant platelet disorders are extremely rare. The aim of this article is to review the clinical and laboratory features of this heterogeneous group and to arrive at a working classification. We conducted our literature search using the National Library of Medicine database. A total of 12 clinical entities were described. We classified them into 4 groups depending on the clinical and structural abnormalities. The pathophysiology of these disorders is largely unknown, and more research is needed, particularly in the light of recent advances in laboratory medicine. This review may provide a valuable reference for clinicians and may form a basis for future classification and research.