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1.
Leuk Res Rep ; 20: 100384, 2023.
Article in English | MEDLINE | ID: mdl-37664441

ABSTRACT

Splenic diffuse red pulp small B-cell lymphoma (SDRPL) is a rare entity. Diagnosis is typically achieved with splenectomy and most patients remain in remission after this intervention. Hemoglobin value less than 10 g/dL and NOTCH1, TP53, and MAP2K1 gene mutations at diagnosis have been associated with worse outcome. Progression after splenectomy of SDRPL is possible, although transformation to aggressive lymphoma has rarely been reported. We herein report the case of a patient formerly diagnosed with SDRPL with gene mutations involving CREBBP, NOTCH1, ARID2, and TNFRSF14 who transformed to diffuse large B-cell lymphoma six months after splenectomy.

2.
Ann Surg Oncol ; 30(7): 4234-4235, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36752966

ABSTRACT

BACKGROUND: Although a ß-catenin mutated hepatocellular adenoma (HCA) is a benign liver tumor, it can cause bleeding, obstruction, pain, and hepatocellular carcinoma.1-3 Because surgery needs to balance these risks with its morbidity, a minimally invasive approach may be well suited.4-6 In this report, a strategic approach to minimally invasive resection of HCA encompassing segment 4a (S4a) is reviewed. PATIENT: A 22-year-old woman with abdominal pain was found to have two liver lesions involving segment 4a (5 cm) and segment 8 (S8) (4.5 cm). Liver biopsy confirmed a ß-catenin mutated HCA in the S4a lesion. After embolization, an anatomic S4a segmentectomy and a partial S8 resection were planned. TECHNIQUE: Three-dimensional modeling was used to perform a preoperative virtual hepatectomy; to visualize the spatial relationship between the HCA, the portal bifurcation, and the hepatic veins; and to preplan the port sites.7 With the patient in the French position, after port placement, intraoperative ultrasound was performed to identify the transection plane.8 The main left portal pedicle and Rex's recessus were exposed, and the branches of S4a were dissected out, clipped, and divided. Using ultrasound, the middle hepatic vein was exposed to define the lateral border of the dissection plane. CONCLUSION: Although a ß-catenin mutated HCA in S4a does not necessitate a formal segmentectomy, understanding the anatomic structures outlining its borders can facilitate the resection, especially for a large HCA. Virtual hepatectomy helps to achieve a detailed comprehension of the complex borders of segment 4a. Preoperative embolization can firm up the tumor and minimize the risk of intraoperative rupture from manipulation.


Subject(s)
Adenoma, Liver Cell , Adenoma , Carcinoma, Hepatocellular , Laparoscopy , Liver Neoplasms , Adult , Female , Humans , Young Adult , Adenoma/genetics , Adenoma/surgery , beta Catenin/genetics , Carcinoma, Hepatocellular/surgery , Catenins , Hepatectomy/methods , Laparoscopy/methods , Liver Neoplasms/genetics , Liver Neoplasms/surgery , Liver Neoplasms/pathology
4.
Radiographics ; 37(2): 613-625, 2017.
Article in English | MEDLINE | ID: mdl-28165875

ABSTRACT

Blunt traumatic injury is one of the leading causes of morbidity and mortality in the United States. Unintentional injury represents the leading cause of death in the United States for all persons between the ages of 1 and 44 years. In the setting of blunt abdominal trauma, the reported rate of occurrence of bowel and mesenteric injuries ranges from 1% to 5%. Despite the relatively low rate of blunt bowel and mesenteric injury in patients with abdominal and pelvic trauma, delays in diagnosis are associated with increased rates of sepsis, a prolonged course in the intensive care unit, and increased mortality. During the past 2 decades, as multidetector computed tomography (CT) has emerged as an essential tool in emergency radiology, several direct and indirect imaging features have been identified that are associated with blunt bowel and mesenteric injury. The imaging findings in cases of blunt bowel and mesenteric injury can be subtle and may be seen in the setting of multiple complex injuries, such as multiple solid-organ injuries and spinal fractures. Familiarity with the various imaging features of blunt bowel and mesenteric injury, as well as an understanding of their clinical importance with regard to the care of the patient, is essential to making a timely diagnosis. Once radiologists are familiar with the spectrum of findings of blunt bowel and mesenteric injury, they will be able to make timely diagnoses that will lead to improved patient outcomes. ©RSNA, 2017.


Subject(s)
Abdominal Injuries/diagnostic imaging , Mesentery/diagnostic imaging , Mesentery/injuries , Multidetector Computed Tomography , Wounds, Nonpenetrating/diagnostic imaging , Abdominal Injuries/surgery , Contrast Media , Humans , Mesentery/surgery , Wounds, Nonpenetrating/surgery
5.
Clin Case Rep ; 3(8): 714-7, 2015 Aug.
Article in English | MEDLINE | ID: mdl-26331020

ABSTRACT

We present a case of isolated congenital hyposplenism that was discovered after the peripheral smear revealed Howell-Jolly bodies. This case serves as the basis for a review of hyposplenism for the general practitioner.

6.
Diabetes Metab Syndr ; 9(1): 19-23, 2015.
Article in English | MEDLINE | ID: mdl-25450816

ABSTRACT

AIM: Adipose tissue derived retinol-binding protein 4 (RBP-4), known as one of the most important adipokins, has a link with insulin resistance and metabolic syndrome in obesity. The purpose of this study was to investigate the possible correlation between fasting serum RBP4 and resting metabolic rate (RMR) as a predictor of weight gain, body composition and insulin resistance in obese and non-obese subjects. MATERIALS AND METHODS: In this case-control study, 73 obese and 90 non-obese participants were assessed following an overnight fasting for RMR by means of indirect calorimetry. Body composition was measured using body composition analyzer. Serum RBP4 levels were quantified by ELISA method. RESULTS: Circulating RBP4 level correlated positively with log insulin (r=0.278, p=0.04) in obese subjects. There were no significant correlation between RBP4 and body composition in obese subjects except fat free mass (r=0.42, p=0.001). We found reduced RMR/kg in higher RBP4 concentration, moreover, a negative correlation was found between RBP4 and RMR/kg (r=-0.35, p=0.01) in obese group. Based on ROC analysis and RMR/kg cut-off value (=20 kcal/24 h/kg) for predicting the risk of obesity, 83.3% of participants with RMR/kg<20 kcal/24 h/kg had high RBP4 concentration, however in subjects with RMR/kg≥20 kcal/24 h/kg this percentage was 16.7 (p=0.01). CONCLUSION: Our findings demonstrated that RBP4 concentration had relation with RMR which was different among obese and non-obese groups. These results may suggest the possible role of RBP4 in alteration of metabolic rate through insulin or other metabolic effects.


Subject(s)
Adipocytes/metabolism , Adipose Tissue/metabolism , Basal Metabolism , Insulin Resistance , Obesity/metabolism , Retinol-Binding Proteins, Plasma/metabolism , Adult , Body Composition , Calorimetry, Indirect , Case-Control Studies , Enzyme-Linked Immunosorbent Assay , Female , Humans , Male , Middle Aged , Obesity/blood , Obesity/physiopathology , RNA, Messenger , Weight Gain
7.
J Gastrointest Oncol ; 5(6): E113-6, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25436133

ABSTRACT

This case report describes a 52-year-old African American man who initially presented with worsening back pain. The patient was found to have lytic lucencies in the T5 and T9 vertebral bodies and a subsequent bone marrow biopsy revealed an extensive infiltrate of signet ring cells. These findings prompted a workup for a gastrointestinal malignancy, and upper endoscopy revealed a mass in the gastric pylorus. A biopsy of this mass was positive for signet ring cell adenocarcinoma. This case is significant for two reasons. First, it highlights the importance of a broad differential diagnosis when approaching a patient with lytic bone lesions. Second, bone marrow involvement is more common in patients with diffuse type gastric cancer and occurs in particularly young patients. The increasing incidence of diffuse type gastric adenocarcinoma means bone marrow metastases will likely play a greater role in the presentation and management of gastric cancer.

8.
Am J Hematol ; 87(2): 217-9, 2012 Feb.
Article in English | MEDLINE | ID: mdl-22139998

ABSTRACT

Fetal hemoglobin (HbF) is a major modifier of disease severity in sickle cell anemia (SCA). Three major HbF quantitative trait loci (QTL) are known: the Xmn I site upstream of (G)γ- globin gene (HBG2) on chromosome 11p15, BCL11A on chromosome 2p16, and HBS1L-MYB intergenic polymorphism (HMIP) on chromosome 6q23. However, the roles of these QTLs in patients with SCA with uncharacteristically high HbF are not known. We studied 20 African American patients with SCA with markedly elevated HbF (mean 17.2%). They had significantly higher minor allele frequencies (MAF) in two HbF QTLs, BCL11A, and HMIP, compared with those with low HbF. A 3-bp (TAC) deletion in complete linkage disequilibrium (LD) with the minor allele of rs9399137 in HMIP was also present significantly more often in these patients. To further explore other genetic loci that might be responsible for this high HbF, we sequenced a 14.1 kb DNA fragment between the (A)γ-(HBG1) and δ-globin genes (HBD). Thirty-eight SNPs were found. Four SNPs had significantly higher major allele frequencies in the unusually high HbF group. In silico analyses of these four polymorphisms predicted alteration in transcription factor binding sites in 3.


Subject(s)
Anemia, Sickle Cell/ethnology , Anemia, Sickle Cell/genetics , Black or African American , DNA, Intergenic , Fetal Hemoglobin/genetics , Polymorphism, Single Nucleotide , Quantitative Trait Loci , Adolescent , Adult , Alleles , Anemia, Sickle Cell/pathology , Base Sequence , Child , Child, Preschool , Female , Gene Frequency , Humans , Male , Middle Aged , Phenotype , Sequence Analysis, DNA , delta-Globins/genetics , gamma-Globins/genetics
9.
Am J Hematol ; 84(1): 55-8, 2009 Jan.
Article in English | MEDLINE | ID: mdl-19006227

ABSTRACT

Hb Kenya is made up of two normal alpha-globin chains and two (A)gammabeta-fusion globin chains. The latter are the product of an (A)gammabeta-hybrid globin gene formed as a result of misalignment during meiosis and nonhomologous crossing over. It is associated with a deletion of 22.7 kb including the delta-globin gene, between the (A)gamma- and beta-globin genes. Hb Kenya is found in Kenyans and Ugandans. Heterozygotes have moderately increased Hb F, and this mutation has been known as an ((A)gammabeta)(+) hereditary persistence of fetal hemoglobin (HPFH). Compound heterozygotes for Hb Kenya/Hb S are thought to be asymptomatic, but reports of long term follow-up of these patients are lacking. The correct identification of Hb Kenya is sometimes problematic. In cation exchange high performance liquid chromatography, Hb Kenya elutes in similar position as Hb A(2), Hb Lepore, Hb E, and several other variant hemoglobins. Definitive diagnosis that is necessary for proper patient management is best done by DNA-based gap-PCR tests.


Subject(s)
Fetal Hemoglobin/genetics , Hemoglobinopathies/diagnosis , Hemoglobins, Abnormal/genetics , beta-Globins/genetics , gamma-Globins/genetics , Fetal Hemoglobin/analysis , Fetal Hemoglobin/chemistry , Fetal Hemoglobin/metabolism , Hemoglobins, Abnormal/analysis , Hemoglobins, Abnormal/chemistry , Humans , Isoelectric Focusing , Male , Middle Aged , Polymerase Chain Reaction
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