Primary Pulmonary Artery Sarcoma Confined to the Left Pulmonary Artery.

Primary pulmonary artery sarcomas (PPAS) are extremely rare tumors that are often mislabeled as pulmonary emboli (PE). PPAS usually involve the pulmonary trunk and are histologically classified as leiomyosarcoma, spindle cells sarcoma, fibrous histiocytoma, or undifferentiated sarcoma. Our case involved a 78-year-old man with an undifferentiated PPAS confined to the left pulmonary artery that was initially misdiagnosed as a PE.

Pulmonary arterial hypertension and acute respiratory distress syndrome in a patient with adult-onset stills disease.

Adult-onset Still's disease (AOSD) is an inflammatory disorder characterized by recurrent fevers, arthralgia, leukocytosis, and a salmon-colored rash. Diagnosis is made based on the Yamaguchi criteria. Various cardiac and pulmonary manifestations have been described in association with AOSD, including acute respiratory distress syndrome (ARDS) and pulmonary arterial hypertension (PAH).

The Use of Tranexamic Acid for Upper Gastrointestinal Bleeding by Medical and Surgical Intensivists: A Single Center Experience.

Background: Tranexamic acid (TXA) may be beneficial in the management of upper gastrointestinal bleeding (UGIB). We sought to investigate how frequently intensivists at our academic institution use TXA for patients with UGIB, and to investigate whether the utilization rate of TXA differs between surgical and medical intensivists, and provide an updated literature review on the subject.

Methods: We performed a retrospective cohort study of patients admitted for UGIB to the surgical intensive care unit (SICU) and the medical intensive care unit (MICU) at our academic healthcare facility (University of Florida Health - Shands Hospital) from January 1, 2013 to December 31, 2016.

A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype.

An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.

A case with Waardenburg syndrome presenting with two separate translocations--one reciprocal and one complex.

A 2-month-old Turkish male with Waardenburg syndrome who has two de novo translocations is described. The translocations are a reciprocal translocation between chromosomes 1 and 8, and a more complex translocation involving chromosomes 4 and 7.

The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party.

We report 611 non-mosaic and 91 mosaic findings of trisomies 13, 18 and 21, and numerical sex chromosome abnormalities in a series of 20,527 CVS, in the Association of Clinical Cytogeneticists U.K. Collaborative Study, the majority with analysis of both direct preparations and cultured cells.

Two years' prospective experience using fluorescence in situ hybridization on uncultured amniotic fluid cells for rapid prenatal diagnosis of common chromosomal aneuploidies.

A probe was generated from the YAC clone 831B9 that was suitable for the prenatal detection of trisomy 21 using fluorescence in situ hybridization (FISH). This probe was initially tested on a series of 650 unselected amniotic fluid samples prior to the karyotype being available. 630 were correctly identified as having two copies and 13 samples were correctly scored as having three copies of chromosome 21.

Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings.

The present report summarizes findings on 670 cases of autosomal trisomy diagnosed in Scotland, with actual or expected dates of delivery in 1990 to 1994 inclusive. Cases were notified by cytogenetic service laboratories. There were 277 prenatal and 369 postnatal diagnoses and 24 spontaneous losses.

Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders.

Loss of chromosome 7 (-7) or deletion of the long arm (7q-) are recurring chromosome abnormalities in myeloid leukemias. The association of -7/7q- with myeloid leukemia suggests that these regions contain novel tumor suppressor gene(s), whose loss of function contribute to leukemic transformation or tumor progression. Based on chromosome banding analysis, two critical regions have been identified, one in band q22 and another in bands q32-q35.

Effects of lacrimal drainage occlusion with nondissolvable intracanalicular plugs on hydrogel contact lens wear.

Purpose: To investigate effects of lacrimal drainage occlusion with intracanalicular silicone plugs in hydrogel lens wearers with the symptom of dryness. Effects of rewetting drops in combination with the plugs were also evaluated.

Methods: A 6-week, prospective, double masked, placebo-controlled study design was followed.

Prenatal diagnosis in the United Kingdom--an overview.

Prenatal diagnosis is now a well-established part of health care in the UK. Cytogenetic or molecular diagnostic analysis following amniocentesis, chorionic villus sampling or cordocentesis is in routine practice and identification of 'at risk' pregnancies using biochemical screening or ultrasound is widespread. Professional guidelines have been established covering both sampling procedures and diagnostic testing, and legislation is in place regarding termination of pregnancy and pre-implantation diagnosis.

Swelling of collagen intracanalicular implants.

Background: Absorbable intracanalicular collagen implants are used to attempt to determine if permanent closure of the tear drainage system will diminish or alleviate the signs and symptoms of dryness. The rate of swelling of the collagen implants was measured in vitro in this study.

Methods: Collagen implants were submersed in saline, Refresh Plus artificial tears or Tobrex antibiotic solution on a hanging drop microscope slide.

Long-term culture of primary breast cancer in defined medium.

Over a period of 6 1/2 years between January 1986 and May 1992, 135 unselected primary breast cancers were cultured and of these 10 developed into cell lines. Six of the lines grew in defined serum-free medium, while the other four required supplementation with 0.5% fetal calf serum.

Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease.

We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16.

Midtrimester chorionic villus sampling: an alternative approach?

Objective: Our purpose was to audit midtrimester chorionic villus sampling after a positive maternal serum screening test for autosomal trisomy.

Study Design: From January 1990 until July 1993 chorionic villus sampling was offered to all screened positive women.

Results: Five hundred fifty-one mothers had chorionic villus sampling.