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1.
Clin Case Rep ; 11(6): e7441, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37273676

ABSTRACT

Leukemic retinopathy is a severe complication of severe leukocytosis that results from untreated chronic myelogenous leukemia (CML). Immediate cytoreduction via leukapheresis may reverse ocular manifestations and prevent permanent vision damage. We present a case of a patient with acute unilateral vision loss found to have leukemic retinopathy in the setting of untreated CML with improvement of visual symptoms after leukapheresis and initiation of hydroxyurea.

2.
Am J Case Rep ; 21: e921360, 2020 Aug 05.
Article in English | MEDLINE | ID: mdl-32756533

ABSTRACT

BACKGROUND Breast metastases from melanoma are rare. Amelanotic melanoma is difficult to diagnose, as primary lesions not only lack the pigment typical of melanoma, but also lack other features associated with these tumors, including asymmetry, irregular borders, and color variegation. CASE REPORT A 58-year-old woman presented with an enlarging mass on her left breast, a finding confirmed by physical examination. Mammography showed a 10-cm breast mass of category 4 according to the Breast Imaging Reporting and Data System (BI-RADS). Staging computed tomography (CT) showed widely scattered metastatic sites in the brain, lungs, mediastinum, and adrenal glands. A biopsy of the mass in her left breast was non-diagnostic due to extensive necrosis. Because of severe pain, simple left breast mastectomy was performed. Tissue from the mastectomy revealed a diagnosis of amelanotic malignant melanoma. CONCLUSIONS Diagnosing amelanotic melanoma is difficult without tissue biopsy as these tumors lack the typical features of melanoma and can mimic other dermatologic diseases. This frequently results in a significant delay in diagnosing amelanotic melanoma, with patients often presenting with advanced stage disease having poor prognosis.


Subject(s)
Breast Neoplasms , Mastodynia , Melanoma, Amelanotic , Skin Neoplasms , Breast Neoplasms/diagnosis , Delayed Diagnosis , Female , Humans , Mastectomy , Melanoma, Amelanotic/diagnosis , Middle Aged , Skin Neoplasms/diagnosis , Skin Neoplasms/surgery
3.
Case Rep Hematol ; 2020: 4785759, 2020.
Article in English | MEDLINE | ID: mdl-32274225

ABSTRACT

While the association of immune thrombocytopenic purpura (ITP) and inflammatory bowel disease (IBD) has been described in a few case reports, management of ITP as an extraintestinal manifestation of Crohn's disease (CD) is less studied. There are approximately a dozen cases describing the management of patients dually diagnosed with CD/ITP. Previous reports postulated that the mechanism of ITP in CD was through the presence of circulating immune complexes in the serum and antigenic mimicry due to increased mucosal permeability in active colitis, versus increased mucosal production of TH1-type proinflammatory cytokines during CD flares, which may account for remission of ITP with surgery for CD. We present a case of a 27-year-old man who presented with medically refractory CD and ITP who responded to surgical management with colectomy and splenectomy, along with a systematic review of the literature. These cases suggest that colectomy should be considered in the treatment of medically refractory ITP among patients with concomitant CD.

4.
Cureus ; 8(10): e824, 2016 Oct 10.
Article in English | MEDLINE | ID: mdl-27882271

ABSTRACT

A Dieulafoy's lesion is described as a tortuous, dilated aberrant submucosal vessel that can penetrate through the mucosa and rupture spontaneously, resulting in severe gastrointestinal bleeding. The lesion is most commonly found in the proximal stomach. Historically, it has had up to an 80% mortality rate because of its tendency to cause intermittent but severe bleeding and diagnostic challenges. We report a case of a young male with recurrent severe upper gastrointestinal bleeding with extensive prior investigations failing to reveal the source of bleeding. Computed tomography angiography of the abdomen correctly identified Dieulafoy's lesion of the stomach, and it was subsequently confirmed and successfully treated with interventional radiology (IR)-guided mesenteric angiography and embolization.

5.
Cureus ; 8(9): e765, 2016 Sep 01.
Article in English | MEDLINE | ID: mdl-27725921

ABSTRACT

Patients with antiphospholipid syndrome (APS) are at increased risk of recurrent thromboembolic events due to the pathology of the disease. While prolonged anticoagulation is the treatment of choice for patients with thrombosis, much debate remains about the optimum intensity of anticoagulation. Anticoagulation with warfarin has been shown to decrease rates of thrombosis recurrence, but definitive evidence regarding targeted therapy to an INR of moderate (2.0 - 3.0) or high (3.1 - 4.0) intensity is lacking.

6.
Commun Integr Biol ; 5(5): 462-5, 2012 Sep 01.
Article in English | MEDLINE | ID: mdl-23181161

ABSTRACT

In many animal species, traits associated with male fitness evolve rapidly. Intersexual conflict and male-male competition have been suggested to drive this rapid evolution. These fast evolutionary dynamics result in elevated rates of amino acid replacement and modification of gene expression attributes. Gene acquisition is another mechanism that might contribute to fitness differences among males. However, empirical evidence of fitness effects associated with newly evolved genes is scarce. The Sdic multigene family originated within the last 5.4 myr in the lineage that leads to D. melanogaster and encodes a sperm dynein intermediate chain presumably involved in sperm motility. The silencing of the Sdic multigene family, followed by the screening of relevant phenotypes, supports the role of the Sdic multigene family in sperm competition. The case of the Sdic multigene family illustrates the flexibility of genetic networks in incorporating lineage-specific gene novelties that can trigger an evolutionary arms race between males.

7.
Proc Natl Acad Sci U S A ; 109(6): 2043-8, 2012 Feb 07.
Article in English | MEDLINE | ID: mdl-22308475

ABSTRACT

In many species, both morphological and molecular traits related to sex and reproduction evolve faster in males than in females. Ultimately, rapid male evolution relies on the acquisition of genetic variation associated with differential reproductive success. Many newly evolved genes are associated with novel functions that might enhance male fitness. However, functional evidence of the adaptive role of recently originated genes in males is still lacking. The Sperm dynein intermediate chain multigene family, which encodes a Sperm dynein intermediate chain presumably involved in sperm motility, originated from complex genetic rearrangements in the lineage that leads to Drosophila melanogaster within the last 5.4 million years since its split from Drosophila simulans. We deleted all the members of this multigene family resident on the X chromosome of D. melanogaster by chromosome engineering and found that, although the deletion does not result in a reduction of progeny number, it impairs the competence of the sperm in the presence of sperm from wild-type males. Therefore, the Sperm dynein intermediate chain multigene family contributes to the differential reproductive success among males and illustrates precisely how quickly a new gene function can be incorporated into the genetic network of a species.


Subject(s)
Drosophila melanogaster/genetics , Evolution, Molecular , Genes, Insect/genetics , Spermatozoa/physiology , Animals , Female , Fertility/genetics , Male , Multigene Family/genetics , Organ Specificity/genetics , Reproducibility of Results
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