Trisomy 22 with holoprosencephaly: a clinicopathologic study

Trisomy 22 (47, XY, +22) was found at 17 weeks gestation in one fetus of a twin gestation. The karyotypes of both parents and of the other twin were normal. Abnormal prenatal findings included maternal pre-eclampsia, fetal growth retardation, and progressive intracranial sonolucency of the trisomic fetus. Delivery by cesarean section at 36 weeks gestation yielded a normal healthy female weighing 2,822 grams and a markedly macerated dysmorphic male weighing 642 grams. Holoprosencephaly was found in the trisomic fetus, an unusual feature in trisomy 22. Additional findings in this case are compared to other findings in the literature.     

Gastrointestinal lymphomas in a North American population: clinicopathologic features from one major Central-Midwestern United States tertiary care medical center

ABSTRACT: BACKGROUND: Gastrointestinal (GI) lymphomas are very common types of extranodal lymphomas, and we hypothesize there are regional differences in subtype, distribution in the GI tract, and epidemiological features among the different populations. METHODS: We retrospectively evaluated the clinical, molecular and histologic features of North American primary and secondary GI lymphomas diagnosed from 2000?2009 seen at our institution. We utilized immunohistochemistry and fluorescence in situ hybridization to further evaluate a subset of the gastric lymphomas. RESULTS: Extranodal marginal zone lymphomas of mucosal associated lymphoid tissue (MALTs) and diffuse large B cell lymphomas (DLBCLs) were the most common subtypes of GI lymphomas. Select gastric DLBCLs (N?=?6) and MALTs (N?=?13) were further examined for API2-MALT1 and IGH translocations, and P16 and P53 protein expression. Gastric MALTs showed frequent API2-MALT1 (38%) but not IGH translocations (0%), and the DLBCLs showed neither translocation. Expression of P16 and P53 proteins and the proliferative index were compared between high grade gastric lymphomas (gastric DLBCLs) and low grade gastric lymphomas (gastric MALTs). P53 overexpression (P?=?0.008) and a high proliferation index [Ki-67] (P?=?0.00042) were significantly associated with gastric DLBCL, but no statistically significant difference was observed in P16 expression (p?=?0.108) between gastric DLBCL and gastric MALT. CONCLUSION: Our study revealed that GI lymphomas from a Central-Midwestern North American population showed differences and similarities to non-North American cohorts. In addition, API2-MALT1, P16 and P53 abnormalities occurred frequently in gastric lymphomas from this North American population. Virtual slides: The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1415505838687793.     

Cutaneous melanoma: a twenty-year retrospective study with clinicopathologic correlation.

The survival of melanoma patients is directly related to the involvement of regional nodes and to the microscopic level of invasion of the tumor. During the past 10 years, with the increased use of aggressive surgical therapy (wide local excision or re-excision of the primary tumor and prophylactic dissection of predictably involved regional nodes) the 5-year survival rate has more than doubled. The 5-year survival has doubled in those patients with regional lymph node involvement who were infused for 5 days with L-phenylalanine mustard. Perfusion of the lower extremities with L-phenylalanine mustard has been abandoned at Vanderbilt. The potential aggressiveness of a specific melanoma can be predicted, and thus an appropriate treatment may be planned.     

Tularemia in Canada with a focus on Saskatchewan

Although rare among humans in Canada, tularemia is often endemic in wildlife. The inhabitants of rural areas are especially likely to be exposed to the causative bacterium, Francisella tularensis, through trapping or through the bites of arthropods. Muskrats have replaced rabbits as the principal source of infection, as illustrated by a familial outbreak of oropharyngeal tularemia in Saskatchewan. In humans the disease has six distinct forms and can be asymptomatic, but it generally comes to medical attention as fever, persistent ulcers and enlarged lymph nodes. Serologic tests will confirm the diagnosis.Bien que la tularémie soit rare chez l''homme au Canada, elle existe souvent à l''état endémique parmi les animaux sauvages. Les habitants des régions rurales sont particuliérement susceptibles d''être exposés à l''agent étiologique, Francisella tularensis, lors du trappage ou par les morsures d''arthropodes. Le rat musqué a maintenant remplacé le lapin comme principale source d''infection, tel que l''illustre une poussée de tularémie oropharyngienne chez une famille de Saskatchewan. Chez l''humain la maladie prend six formes distinctes, et elle peut être asymptomatique, mais elle se présente généralement à l''attention du médecin comme une fièvre accompagnée d''ulcères persistants et d''une tuméfaction ganglionnaire. Les épreuves sérologiques confirment le diagnostic.