McGann H.,Blood Bank |
Wenk R.E.,Sinai Hospital
Immunohematology | Year: 2010
Antibodies of apparent D specificity may be found in D+ patients. We report a D+, multi-transfused Caucasian woman with myelodysplasia who exhibited several alloantibodies. One antibody was a moderately strong (2+) anti-D that persisted for 9 months, until the woman died. Molecular analysis of the patient's RHD gene identified the rare weak D type 21 (938C>T) allele. D alloantibodies do not occur in patients with most weak D types, but some patients with a weak D phenotype, including those with type 21, can produce antibodies to nonself epitopes of the wild-type D antigen.
Senadhi V.,Sinai Hospital |
Dutta S.,University of Maryland Baltimore County
Journal of Gastrointestinal Cancer | Year: 2012
Introduction Germ cell tumors rarely metastasize to the gastrointestinal (GI) tract with an incidence that is less than 5%. Germ cell tumors can be divided into two groups: pure seminomas and non-seminomas. Pure seminomas are characterized by their profound response to chemoradiation. Within the group of germ cell tumors, pure seminomas are least likely to metastasize to the GI tract with an incidence of less than 1%. The most frequent mode of metastasis to the GI tract is direct extension from the retroperitoneal lymph nodes, which drain the testes. Ileal and jejunal metastasis are more common due to their retroperitoneal locations as well as the fact that the testes have retroperitoneal lymphatic drainage. Due to the concern of retroperitoneal metastasis in germ cell tumors, retroperitoneal lymph node biopsies are advocated for accurate staging and diagnosis due to the possibility of occult involvement in these sites. Thus, amongst the GI sites for metastasis, the duodenum is the most uncommon location. The most common manifestations of GI metastasis are intestinal obstructions via volvulus or intussusception and not acute gastrointestinal bleeding. We present a case of chemoresistant pure testicular seminoma with metastasis to the duodenum with a complication of a massive upper GI bleed requiring emergent surgery. Conclusion Chemotherapy has a 90% success rate in patients with pure seminomas, even in the setting of disseminated disease. However, pure seminomas with GI metastasis have a lower response rate (60%) to chemotherapy. While there are documented cases of pure seminomas presenting with duodenal bowel perforation, or jejunal occult bleeding, this, to our knowledge, is the first case of duodenal metastasis causing massive acute upper GI bleeding. Amongst the prognostic factors for seminomas, GI metastasis is listed as a poor prognostic factor with respect to chemotherapy. Given the poor response rate with chemotherapy in GI metastasis of seminomas, early surgical management should be considered in cases where GI metastasis occurs. A retroperitoneal lymph node biopsy should be highly considered in patients with a history of seminoma in the staging process, as occult lymph node involvement can lead to future gastrointestinal metastasis that is associated with a poorer prognosis. © Springer Science+Business Media, LLC 2011.
Katlic M.R.,Sinai Hospital |
Rosenthal R.A.,Yale University
American Journal of Surgery | Year: 2015
Background We reviewed the current scientific data and opinions from thought leaders in the field of surgery in the elderly population and queried whether a new society should be formed. Methods The science of geriatric surgery (GS) was reviewed, including topics scientific sessions focused on GS. A town hall meeting was held, which included geriatric surgical scholars. A survey was created to define the interest in GS as a specialty society was sent to surgical scholars. Results As the volume of GS scholarly work has increased, the focus of geriatric science has migrated toward clinical studies on frailty and geriatric syndromes. Our town hall meeting outlined the need for a multidisciplinary GS team. Our survey documented more interest in multidisciplinary sessions at national meetings rather than a new, unique society. Conclusions GS as a discipline is a multidisciplinary practice. Our data suggest that this unique characteristic speaks to the development of a clinical community rather than an independent society. © 2015 The Authors.
Herrera-Garcia G.,Sinai Hospital |
Contag S.,The Institute for Maternal Fetal Medicine
Current Hypertension Reports | Year: 2014
Hypertensive disease of pregnancy (HDP) has been associated with elevated lifetime cardiovascular risk, including stroke, myocardial disease, coronary artery disease, and peripheral arterial disease. These two entities share common risk factors such as obesity, insulin resistance, diabetes, and hypertension. This article will evaluate the current literature on the maternal and fetal cardiovascular risks posed by HDP. The landmark study by Barker et al. demonstrated increased cardiovascular risk in growth-restricted infants, which may also be associated with HDP. Research has demonstrated the effects that HDP may have on the vascular and nephron development in offspring, particularly with respect to endothelial and inflammatory markers. In order to control for confounding variables and better understand the relationship between HDP and lifetime cardiovascular risk, future research will require following blood pressure and metabolic profiles of the parturients and their offspring. © 2014, Springer Science+Business Media New York.
Alvarado D.M.,University of Washington |
Buchan J.G.,University of Washington |
Frick S.L.,Levine Childrens Hospital |
Herzenberg J.E.,Sinai Hospital |
And 2 more authors.
European Journal of Human Genetics | Year: 2013
Talipes equinovarus is one of the most common congenital musculoskeletal anomalies and has a worldwide incidence of 1 in 1000 births. A genetic predisposition to talipes equinovarus is evidenced by the high concordance rate in twin studies and the increased risk to first-degree relatives. Despite the frequency of isolated talipes equinovarus and the strong evidence of a genetic basis for the disorder, few causative genes have been identified. To identify rare and/or recurrent copy number variants, we performed a genome-wide screen for deletions and duplications in 413 isolated talipes equinovarus patients using the Affymetrix 6.0 array. Segregation analysis within families and gene expression in mouse E12.5 limb buds were used to determine the significance of copy number variants. We identified 74 rare, gene-containing copy number variants that were present in talipes equinovarus probands and not present in 759 controls or in the Database of Genomic Variants. The overall frequency of copy number variants was similar between talipes equinovarus patients compared with controls. Twelve rare copy number variants segregate with talipes equinovarus in multiplex pedigrees, and contain the developmentally expressed transcription factors and transcriptional regulators PITX1, TBX4, HOXC13, UTX, CHD (chromodomain protein)1, and RIPPLY2. Although our results do not support a major role for recurrent copy number variations in the etiology of isolated talipes equinovarus, they do suggest a role for genes involved in early embryonic patterning in some families that can now be tested with large-scale sequencing methods. © 2013 Macmillan Publishers Limited All rights reserved.