DOCSLIB.ORG

Hematologic Disorders Associated with Primary Mediastinal Nonseminomatous Germ Cell Tumors

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Hematologic Disorders Associated with Primary Mediastinal Nonseminomatous Germ Cell Tumors with primary mediastinal nonsemino- containing regimens displayed alterations Hematologic Disorders matous germ cell tumors was affected in chromosome 5 or 7 in a high proportion by a hematologic disorder, whereas no of patients (60%–90%). In contrast, leu- Associated With Primary cases were seen among 334 patients kemias associated with mediastinal germ Mediastinal Nonsemino- with other extragonadal germ cell tu- cell tumors appeared to have no consis- matous Germ Cell Tumors mors. The hematologic disorder had a tent cytogenetic abnormalities (3). How- statistically significant impact on prog- ever, the typical marker chromosome abnormality of testicular cancer, isochro- Jo¨rg T. Hartmann, Craig R. Nichols, nosis, with none of the 17 reported pa- tients surviving for more than 2 years. mosome i(12p), had been identified Jean-P. Droz, Alan Horwich, Arthur [J Natl Cancer Inst 2000;92:54–61] within leukemic blasts in some cases, in- Gerl, Sophie D. Fossa, Jo¨rg Beyer, dicating a biologic relationship between Jo¨rg Pont, Karim Fizazi, Lawrence testicular cancer and leukemia in other Hematologic neoplasias associated cases. Other cytogenetic findings in leu- Einhorn, Lothar Kanz, Carsten with extragonadal germ cell tumors rep- kemic blasts, such as evidence of XXY or Bokemeyer resent one of the most intriguing and bio- trisomy 21 karyotypes, may be related to logically distinctive aspects of male germ Downloaded from https://academic.oup.com/jnci/article/92/1/54/2905786 by guest on 23 September 2021 the rare but documented association of cell cancers. Since the association was Background. The association between mediastinal germ cell tumor and Klinefel- first recognized in 1985, a small number primary germ cell tumors of the medi- ter’s syndrome or Down syndrome of cases have been reported (1,2). Patients (13,14). astinum (the space between the lung affected with hematologic malignancies The clinical course of the hematologic pleura that contains the heart and presented with a germ cell tumor located neoplasia in patients with germ cell tu- other chest viscera) and hematologic in the mediastinum, each with a nonsemi- mors tends to be very aggressive, and a malignancies has been described by nomatous histology. Teratocarcinoma and substantial proportion of these patients retrospective analysis of patients endodermal sinus tumors had been noted die before treatment. Patients have either treated at individual clinical centers. in the majority of patients. The largest se- not responded to antileukemic treatment To better characterize the risk of he- ries, with 16 patients, reported a median or attained only brief remissions. A sub- matologic disorders in patients with ex- time interval of 6 months (range, 0–122 group of patients with isolated thrombo- tragonadal germ cell tumors and to de- months) from the diagnosis of mediastinal cytosis/platelet disorders appears to have scribe the clinical and biologic features germ cell tumor to the occurrence of a a more favorable prognosis (4,5). of the disorders, we studied an unse- hematologic disorder (3). Approximately Only limited data are available regard- lected population in a large, interna- one third of patients presented with both ing the frequency, clinical behavior, and tional, multicenter database. Methods. disorders simultaneously. Most often, biology of hematologic neoplasias in pa- Six hundred thirty-five patients treated the megakaryocytic lineage of hematopoi- tients with primary mediastinal germ cell at 11 centers in the United States and esis was involved in the hematologic ma- tumors. This investigation adds informa- Europe from 1975 through 1996 were lignancy, resulting in acute megakaryo- tion from a large database containing in- evaluated retrospectively. Results. A blastic leukemia, myelodysplasia with formation on patients with extragonadal hematologic disorder was observed in abnormal megakaryocytes, or idiopathic/ germ cell tumors from 11 European and 17 patients with germ cell tumors. All essential thrombocytosis. Other hemato- American cancer centers. The patients cases developed among the 287 patients logic diagnoses included acute lympho- were treated during a recent time period with primary mediastinal nonsemino- cytic or other acute myeloid leukemia when cisplatin-based chemotherapy regi- matous germ cell tumors, giving an in- (AML) and, in rare cases, malignant his- mens were generally available. cidence rate in this group of 2.0% (95% tiocytosis or systemic mastocytosis (3–7). confidence interval [CI] = 1.1%–3.1%) Hematologic disorders associated with per year over a median follow-up time primary mediastinal germ cell tumors Affiliations of authors: J. T. Hartmann, L. Kanz, of 3 years. The risk of developing he- have to be distinguished from therapy- C. Bokemeyer, Tuebingen University Medical Cen- matologic disorders was statistically related secondary leukemia. Leukemias ter II, Germany; C. R. Nichols, Oregon Health Sci- significantly increased in patients with associated with the use of alkylating ences University, Portland; J.-P. Droz, Centre Le´on- primary mediastinal nonseminomatous agents usually occur after an average in- Berard, Groupe d’Etude des Tumeurs Uro-geniales, germ cell tumors in comparison with terval of 5–7 years, often preceded by a Lyon, France; A. Horwich, The Royal Marsden Hos- pital, Sutton, U.K.; A. Gerl, Klinikum Gro␤hadern, the age-matched general population preleukemic period of myelodysplasia Munich, Germany; S. D. Fossa, The Norwegian Ra- (standardized incidence ratio = 250; and frequently progressing to AML, dium Hospital, Oslo, Norway; J. Beyer, Virchow 95% CI = 140–405). The median time French–American–British classification Klinikum, Berlin, Germany; J. Pont, Kaiser-Franz- to onset of hematologic neoplasia was 6 (FAB) subtypes M1 or M2 (8). Topo- Josef Spital, Vienna, Austria; K. Fizazi, Institut Gus- months (range, 0–47 months), and the isomerase II inhibitor-related secondary tave-Roussy, Villejuif, France; L. Einhorn, Indiana median survival after diagnosis of the leukemias are generally diagnosed 2–3 University, Indianapolis. hematologic disorder was 5 months years after chemotherapy and most com- Correspondence to: Carsten Bokemeyer, M.D., Department of Hematology/Oncology/Immunology, (range, 0–16 months) (two-sided monly exhibit FAB M4 or M5 phenotype. UKL-University Medical Center II, Eberhard-Karls- P<.0001, comparing survival from the Whereas the latter type of leukemias is University, Otfried-Mueller-Str. 10, 72076 Tuebin- time of diagnosis of the germ cell tumor frequently associated with translocations gen, Germany (e-mail: carsten.bokemeyer@med. of patients with and without hemato- of the long arm of chromosome 11 uni-tuebingen.de). logic disorders). Conclusion.Inour (11q23) (9–12), the leukemias follow- See “Notes” following “References.” study, approximately one in 17 patients ing treatment with alkylating agent- © Oxford University Press 54 REPORTS Journal of the National Cancer Institute, Vol. 92, No. 1, January 5, 2000 PATIENTS AND METHODS lesions and/or elevation of tumor markers at re- All other statistical analyses were performed with peated controls (15). the use of the SPSS system (SPSS for Windows 8.0 Data Collection software; Microsoft Corp., Redmond, WA) accord- Statistical Analysis ing to the Kaplan–Meier method to calculate sur- We evaluated the medical records of 635 extrago- vival data (18). A multivariate logistic regression nadal germ cell tumor patients treated at 11 cancer including all 287 patients with primary mediastinal centers in the United States and Europe during the The duration of follow-up was calculated on the germ cell tumors was performed to identify patients’ period from 1975 through 1996. The contributing basis of the date of the diagnosis of the extragonadal characteristics predicting the occurrence of leukemia centers, internationally recognized for their experi- germ cell tumor until the date of last contact (if the in association with primary mediastinal germ cell ence in the treatment of germ cell tumors, were as patient was still alive) or the date of death. For all tumor (19). The following categorical variables ;216 ס follows: Indiana University, Indianapolis (n living patients, the current status as of August 1998 were examined: histologic subgroups of the primary time period, 1989 through 1996); Institute Gustave- was verified. Survival calculations in this analysis tumor (yolk sac/teratocarcinoma/other), age group- Roussy, Villejuif, France, Centre Le´on-Berard, were performed both from the diagnosis of the he- ing (ഛ25 years old and ജ26 years old), tumor Lyon, France, and the Groupe d’Etude des Tumeurs matologic disorder and from the evidence of ex- marker concentrations at diagnosis (elevated, yes/ -from these three cen 93 ס Uro-geniales, Lyon (n tragonadal germ cell tumor. To determine the num- ഛ 2 ജ 2 ters; time period, 1975 through 1996); Eberhard- no), size ( 25 cm and 26 cm ) and presence of ber of new cases of leukemia expected in the study Karls-University Medical Center II, Tuebingen, additional metastatic sites (yes/no), medical history group, we used 5-year age group-specific data from (Klinefelter’s syndrome, yes/no), and type of che- time period, 1986 through 1993); Downloaded from https://academic.oup.com/jnci/article/92/1/54/2905786 by guest on 23 September 2021 ;13 ס Germany (n the cancer registry of the Federal state of Saarland, motherapy (etoposide, yes/no). Continuous variables ס Hanover University Medical School, Germany (n 88; time period,
Load more

Recommended publications
  • Green Teeth Associated Hyperbilirubinemia in Primary Dentition
    https://doi.org/10.5933/JKAPD.2017.44.3.378 J Korean Acad Pediatr Dent 44(3) 2017 ISSN (print) 1226-8496 ISSN (online) 2288-3819 Green Teeth Associated Hyperbilirubinemia in Primary Dentition Min Kyung Park1†, Yeji Sun1†, Chung-Min Kang1, Hyo-Seol Lee2, Je Seon Song1 1Department of Pediatric Dentistry, College of Dentistry, Yonsei University 2Department of Pediatric Dentistry, College of Dentistry, Kyung-Hee University Abstract There are many reasons for tooth discoloration. An increase in the bilirubin level may cause tooth discolorations. Such cases are rare, but most involve tooth discoloration with a greenish hue. The purpose of this case report is to describe green discoloration of the primary dentition in the presence of neonatal hyperbilirubinemia. 2 boys aged 16 and 22-months presented with chief complaints of erupting teeth of abnormal color. Their primary teeth exhibited a greenish discoloration along enamel hypoplasia. Both patients were born prematurely with a low birth weight and had been diagnosed with neonatal hyperbilirubinemia. Systematic diseases can affect the hard tissue of teeth during their formation and result in changes in tooth color. Periodic follow-ups are required for establishing a normal dental condition and meeting the esthetic needs of patients. A pediatric dentist may be the first person to observe patients with discoloration in their primary dentition. In such cases the dentist can deduce the systematic disease responsible for this discoloration. Key words : Green teeth, Intrinsic discoloration, Hyperbilirubinemia, Bilirubin Ⅰ. Introduction ative materials infiltrate into the tooth structure, their removal is impossible[5-8]. Tooth discoloration can be an esthetic prob- There are many reasons for tooth discoloration, which can lem, and it is one of main reasons why patients visit dentists.
    [Show full text]
  • Clinical and Etiological Profile of Thrombocytopenia in Adults
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by UKM Journal Article Repository Research Article Clinical and etiological profile of thrombocytopenia in adults: A tertiary-care hospital-based cross-sectional study Shruti K Bhalara, Smita Shah, Hansa Goswami, RN Gonsai Department of Pathology, B.J. Medical College, Ahmedabad, Gujarat, India. Correspondence to: Shruti K Bhalara, E-mail: [email protected] Received September 6, 2014. Accepted September 13, 2014 Abstract Background: The etiologies of thrombocytopenia are diverse. Various studies on thrombocytopenia are done in the past have related to specific etiologies. Objectives: This study attempts to determine the common etiologies of thrombocytopenia in adult patients admitted to Civil Hospital, Ahmedabad. Material and Methods: A cross-sectional study was carried out at Civil Hospital, Ahmedabad. Patients with thrombo- cytopenia more than 18 years of age at admission between 1 October and 31 October 2013 were followed up during their stay in hospital, diagnosis were made, and bleeding manifestations and requirement of platelet transfusion were recorded. Results: From the 412 patients studied, dengue was diagnosed in 28.6% of patients followed by malaria in 22.8%, chronic liver disease in 15.2%, hypersplenism in 12.3%, septicemia in 6.3%, gestational thrombocytopenia and disseminated intravascular coagulation in 5.5%, immune thrombocytopenic purpura (ITP) in 3.1%, megaloblastic anemia in 1.9%, human immunodeficiency virus in 1.4%, drug-induced thrombocytopenia in 1.2%, leukemia in 0.7%, and aplastic anemia in 0.48%. Bleeding secondary to thrombocytopenia was seen in 46 (11.2%) patients; of them, 28 were diagnosed with dengue fever, 4 with chronic liver disease, 3 with sepsis, 2 with hematological malignancies, and 9 with ITP.
    [Show full text]
  • Complications of Laparoscopic Splenectomy
    ORIGINAL ARTICLE Complications of Laparoscopic Splenectomy Eduardo M. Targarona, MD, PhD; Juan Jose´ Espert, MD; Ernest Bombuy, MD; Oscar Vidal, MD; Gemma Cerda´n, MD; Vicente Artigas, MD, PhD; Manuel Trı´as, MD, PhD Hypothesis: Analysis of the type and characteristics of Results: One hundred thirteen laparoscopic splenectomies complications after laparoscopic splenectomy may per- were completed (conversion rate, 7.4%). Twenty patients mit the identification of clinical factors with predictive (18%) developed 23 complications. All were Clavien type value for the development of complications. I or II, without mortality. One complication was intraop- erative (diaphragmatic perforation), and 22 were postop- Design: Univariate and multivariate analysis of factors erative: 6 pulmonary (26%), 3 fever (13%), 8 hemorrhagic related to complications in a prospective series of lapa- (35%) (5 episodes of postoperative bleeding and 3 abdomi- roscopic splenectomies. nal wall hematomas), and 6 others (26%). Ten (43%) of the 23 were technically related. Univariate analysis showed Setting: A large tertiary referral university–teaching gen- that complications were only related to age (mean±SD, eral hospital. 55±15 vs 39±17 years; P,.008) or transfusion (50% vs 11%; P,.001). Multivariate analysis showed that the learn- Patients: One hundred twenty-two nonselected con- ing curve (P,.005; 95% confidence interval, 2.46), age secutive patients, in whom laparoscopic splenectomy was (P,.001; 95% confidence interval, 1.04), spleen weight attempted between February 1993 and July 1999. (P,.009; 95% confidence interval, 1.00), and malignant neoplasmdiagnosis(P,.007;95%confidenceinterval,3.82) Intervention: Laparoscopic splenectomy. were independent predictors of complications. Main Outcome Measures: Immediate complica- Conclusions: Laparoscopic splenectomy is feasible, and tions classified according to the Clavien score.
    [Show full text]
  • CASE REPORT Sensorineural Hearing Loss and Tinnitus As Presenting Symptoms of Polycythemia Vera
    Int. Adv. Otol. 2012; 8:(2) 317-320 CASE REPORT Sensorineural Hearing Loss and Tinnitus as Presenting Symptoms of Polycythemia Vera Ki-Hong Chang, Eun-Ju Jeon Department of Otolaryngology-HNS, The Catholic University of Korea, Seoul, Korea (KHC, EJ) Abstract: Polycythemia vera (PV) is a blood disorder in which the bone marrow makes too many red blood cells. Commonly encountered neurologic symptoms include transient ischemic attack, dementia, dizziness, tinnitus, and visual disturbances which are thought to result from thrombosis and hemorrhage. Although hearing impairment is one of the neurologic symptoms of PV, tinnitus or hearing impairment as a presenting symptom of PV is very rare. We report a patient with polycythemia vera whose first sign and symptom were bilateral tinnitus and hearing loss. Unfortunately, the hearing was not recovered after treatment including aspirin and phlebotomy while blood level returned to near normal range. Submitted : 16 June 2011 Accepted : 7 November 2011 Introduction hearing loss and tinnitus had developed in his right ear. Polycythemia vera (PV) is characterized by an At that time, he visited another hospital for the hearing erythrocytosis variably associated with leukocytosis loss and was treated with some medication on the and thrombocytosis. PV is a rare disease with an impression of idiopathic sudden hearing loss. However, incidence rate of approximately 1.9-2.3 new cases per as his hearing was not recovered and his tinnitus was 100,000/year in Europe and the United States. The aggravated, he quit taking the medication. After 6 incidence of PV is slightly higher in men than women months, tinnitus gradually developed in his left ear and (2.8 vs.
    [Show full text]
  • Hematologic Disorders
    www.downstatesurgery.org Hematologic Disorders Sophia L Fu, MD SUNY Downstate Medical Center, Brooklyn, NY Chief Resident Grand Rounds March 29, 2012 Hematologic Disorderswww.downstatesurgery.org Overview Splenic Peripheral Blood Bone marrow Genetic Disorder Myeloproliferative Hematologic Disorderswww.downstatesurgery.org True or False ??? Therapeutic splenectomy cures the underlying hematologic disorder Hematologic Disorderswww.downstatesurgery.org Goals of Splenectomy Ameliorate the pathologic effects of splenic sequestration and symptomatic splenomegaly Correct the hematologic abnormality Aid in diagnosis and staging Rare www.downstatesurgery.org Autoimmune/Idiopathic Disorders Hematologic Disorderswww.downstatesurgery.org What is the most common indication for splenectomy in the US? A) Felty Syndrome B) Thrombotic Thrombocytopenic Purpura C) Autoimmune Hemolytic Anemia D) Idiopathic Thrombocytopenic Purpura E) Sarcoidosis www.downstatesurgery.org Idiopathic Thrombocytopenic Purpura Hematologic Disorderswww.downstatesurgery.org A 43-year-old man has thrombocytopenia, ecchymoses, and a history of melena. His primary doctor suspects that he might have idiopathic thrombocytopenia purpura (ITP). Which of the following is true about this condition? A It is characterized by a low platelet count, mucosal hemorrhage, normal bone marrow, and an enlarged spleen. B It is caused by splenic overproduction of IgM, which attacks the platelet membrane and causes platelet destruction. C The bone marrow often hypertrophies to counteract the increased platelet destruction. D It affects young men more commonly than women. E Diagnosis requires exclusion of other causes of thrombocytopenia. Hematologic Disorderswww.downstatesurgery.org The patient previously described undergoes a complete work- up and ITP is diagnosed. Which of the following about the treatment of ITP is true? A Platelet transfusions are best given before ligation of the splenic artery.
    [Show full text]
  • 7/7/2019 1 the CBC And
    7/7/2019 The CBC and Me: Identifying and Evaluating Abnormalities Bradley DeNardo, MD Assistant Professor of Pediatrics Division of Pediatric Hematology/Oncology The Warren Alpert Medical School of Brown University Disclosure • No conflicts of interest to disclose. Learning Objectives 1. Describe the diagnostic testing and clinical approach to pediatric anemia. 2. Identify WBC abnormalities suspicious for hematologic disease. 3. Recognize common platelet disorders that result in thrombocytopenia or thrombocytosis. 1 7/7/2019 Blood Basics • Adult blood: • Components of Blood: • Blood volume: 5-6L • Formed elements: blood cells • 7% body weight • Erythrocytes • Circulates the entire body in 20-60 • Leukocytes seconds • Platelets • Plasma • Childhood blood: • 90% water • 10% solutes • Total blood volume: body weight • Neonate: 85 ml/kg • 1 month: 105 ml/kg • >2 months: 70-80 ml/kg • Serum = plasma without clotting factors Blood Basics • Hematopoiesis: • Continuous production of blood cell population. • Bone marrow cavities and canals. • Mediated: • Growth factors • Hematopoietic stem cells Blood Basics 2 7/7/2019 Blood Basics Blood Basics: The CBC • Other values: • Red Blood Cell Indices: • MCV • MCH • MCHC • RDW • MPV Blood Basics: The CBC Manual Automated 3 7/7/2019 Blood Basics: The Red Blood Cell • Biconcave disc • 7.8 μm diameter • Highly flexible membrane • 100-120 day lifespan • 3.9-6 million cells/μl • Produce 2.4 million RBCs/second • Simple interior: • Lack of nucleus • Lack of organelles • Enzymes for glycolysis • Hemoglobin Blood Basics: Hemoglobin • Iron-containing metalloprotein. • Structure • Responsible for O transport. • Heme Group: 2 • Protoporphyrin IX • 35% of total RBC content. • Single atom of Iron • 96% by dry content • Globin: • Polypeptide chain • Heme + Globin = Hemoglobin Chain: • 16,000 g/mol • Variety of different chains • Hemoglobin Protein: • 4 loosely bound hemoglobin chains Blood Basics: Hemoglobin 4 7/7/2019 Blood Basics: The Newborn Screen Pediatric Anemia • Defining Anemia: • Reduction in RBC mass.
    [Show full text]
  • Nucleated Red Blood Cell Count in Infants of Women with Well-Controlled Gestational Diabetes Mellitus
    Nucleated Red Blood Cell Count in Infants of Women With Well-controlled Gestational Diabetes Mellitus Tolga ERG‹N 1, Aylin TARCAN 2, Arda LEMBET 1, Süheyla ÇET‹NTAfi 1, Sedat ÇET‹NTAfi 2, Ali HABERAL 1. 1 Baflkent University School of Medicine, Department of Obstetrics & Gynecology, Ankara, Turkey 2 Baflkent University School of Medicine, Department of Pediatrics, Beflevler, Ankara, Turkey Abstract Objective: To compare the absolute number of nucleated red blood cell (NRBC) counts within twelve hours of birth in healthy infants and infants of women with gestational diabetes mellitus (GDM). Methods: We compared absolute NRBC counts in two groups of term infants, appropriate size for gestational age (AGA) infants of women with gestational diabetes (n=20) and AGA infants of nondiabetic women (n=20). To eli- minate confounding variables that could affect absolute NRBC numbers, we excluded infants born to women with hypertension, smoking, alcohol abuse and those with intrapartum fetal heart rate abnormalities, low Apgar scores, hemolysis, blood loss, or chromosomal anomalies. Results: There were no significant differences between two groups regarding maternal age, gravidity, parity, gestati- onal age, newborn gender, cesarean rate, 1st and 5 th minute Apgar scores and birth weight. The absolute NRBC co- unts were significantly higher in the GDM group than the control group (p<0.001). Conclusion: We found higher absolute NRBC counts in infants of women with GDM which is close to the level of chronic hypoxia. This finding suggests that fetuses born to women with GDM were exposed to a relatively hypoxe- mic environment for a time period. Key words: Gestational diabetes mellitus, hypoxia, neonatal nucleated red blood cell Öz e t ‹yi Kontrollü Gestasyonel Diabetes Mellitusta Neonatal Normoblast Say›s› Amaç: Kontrollü gestasyonel diabetes mellituslu kad›nlar›n infantlar› ile sa¤l›kl› kad›nlar›n infantlar›nda ilk on iki saat içinde bak›lan mutlak normoblast (NRBC) say›s›n›n karfl›laflt›r›lmas›.
    [Show full text]
  • Splenectomy in Hematology. Current Practice and New Perspectives
    Haematologica 1999; 84:431-436 decision making and problem solving Splenectomy in hematology. Current practice and new perspectives UMBERTO BACCARANI,* GIOVANNI TERROSU,* ANNIBALE DONINI,* FRANCESCO ZAJA,° FABRIZIO BRESADOLA,* MICHELE BACCARANI° *Chair and Division of Surgery, Department of Surgery, and °Chair and Division of Hematology, Department of Clinical and Morphologic Research, Udine University Hospital and School of Medicine, Udine, Italy ABSTRACT Background and Objective. Progress and changes in or many years splenectomy was the main point the management of blood diseases, in surgery and in of contact between hematology and surgery. videotechnology stimulate a critical reappraisal of FThe indications for splenectomy in hematology splenectomy in hematology. are numerous, from diagnostic and staging purpos- Design and Methods. We have collected information es to splenic rupture due to infarction, from anemia on the current practice of splenectomy in hematol- or thrombocytopenia to leukemia or lymphoma. ogy in Italy and we have reviewed the results of a These indications were generated over different his- new technique of laparoscopic splenectomy (LS). torical periods. Many of them are soundly based on Results. Current splenectomy practice: the current common sense and practice, but rarely on evidence. practice in Italy is to offer splenectomy as front-line Over time the indications for splenectomy in hema- treatment for hereditary spherocytosis and as sec- tology have undergone some changes,1 depending ond-line for idiopathic thrombocytopenic purpura on modifications and progress in the management (ITP) and hemolytic anemia. Splenectomy is also of malignant and non-malignant blood diseases. offered in selected cases of leukemia and lymphoma Major examples are Hodgkin’s disease (HD) and but is going out of practice for hairy cell leukemia hairy cell leukemia (HCL) where new treatment and Hodgkin’s disease.
    [Show full text]
  • Hereditary Spherocytosis Recent Experience and Current Concepts Ofpathophysiology
    Hereditary Spherocytosis Recent Experience and Current Concepts ofPathophysiology ROBERT D. CROOM III, M.D.* CAMPBELL W. MCMILLAN, M.D.t GEORGE F. SHELDON, M.D.* EUGENE P. ORRINGER, M.D.t Hereditary spherocytosis is a clinically heterogeneous, geneti- From the Departments of Surgery,* Pediatrics,t and cally determined red blood cell membrane disorder resulting in Medicine,f The University of North Carolina School of hemolytic anemia. A deficiency of spectrin, the largest and most Medicine and the North Carolina Memorial Hospital, abundant structural protein of the erythrocyte membrane skel- Chapel Hill, North Carolina eton, results in the formation of spherocytes which lack the strength, durability, and flexibility to withstand the stresses of the circulation. Clinical manifestations of the disease are pri- marily dependent on the severity of hemolysis, which additionally The membrane defect resulting in the shortened sur- results in an increased incidence of pigment gallstones. The like- vival of erythrocytes in HS has been found to be a defi- lihood of cholelithiasis is directly related to patient age and is ciency in spectrin, the largest and most abundant struc- uncommon before 10 years of age. Splenectomy is indicated in tural protein of the red cell membrane skeleton.3'4 virtually every patient. When the disease is diagnosed in early childhood, the risk of overwhelming postsplenectomy sepsis Thought to be responsible for the shape, strength, and makes it advisable to delay splenectomy until after 6 years of reversible deformability of the red cell, the membrane age if possible. At the time of splenectomy, it is important to skeleton provides the flexibility and durability necessary identify and remove any accessory spleens.
    [Show full text]
  • Obstetric Nephrology: Lupus and Lupus Nephritis in Pregnancy
    CJASN ePress. Published on August 9, 2012 as doi: 10.2215/CJN.12441211 Obstetric Nephrology: Lupus and Lupus Nephritis in Pregnancy | Todd J. Stanhope,* Wendy M. White,† Kevin G. Moder,‡ Andrew Smyth,§ and Vesna D. Garovic Summary SLE is a multi-organ autoimmune disease that affects women of childbearing age. Renal involvement in the form of either active lupus nephritis (LN) at the time of conception, or a LN new onset or flare during pregnancy increases *Department of the risks of preterm delivery, pre-eclampsia, maternal mortality, fetal/neonatal demise, and intrauterine growth Obstetrics and restriction. Consequently, current recommendations advise that the affected woman achieve a stable remission of her Gynecology, Mayo renal disease for at least 6 months before conception. Hormonal and immune system changes in pregnancy may affect Clinic, Rochester, † disease activity and progression, and published evidence suggests that there is an increased risk for a LN flare during Minnesota; Division of Maternal Fetal pregnancy. The major goal of immunosuppressive therapy in pregnancy is control of disease activity with medications Medicine, Mayo that are relatively safe for a growing fetus. Therefore, the use of mycophenolate mofetil, due to increasing evidence Clinic, Rochester, supporting its teratogenicity, is contraindicated during pregnancy. Worsening proteinuria, which commonly occurs Minnesota; ‡Divisions of Rheumatology and in proteinuric renal diseases toward the end of pregnancy, should be differentiated from a LN flare and/or pre- | eclampsia, a pregnancy-specific condition clinically characterized by hypertension and proteinuria. These consid- Nephrology and Hypertension, erations present challenges that underscore the importance of a multidisciplinary team approach when caring for Department of these patients, including a nephrologist, rheumatologist, and obstetrician who have experience with these pregnancy- Medicine, Mayo related complications.
    [Show full text]
  • Selected Mast Cell Disorder Medical and Scientific References
    The Mastocytosis Society, Inc. Selected References-February, 2017 www.tmsforacure.org SELECTED MAST CELL DISORDER MEDICAL AND SCIENTIFIC REFERENCES FILE DESCRIPTION: This file contains selected references that might be of interest to mast cell disorder patients, their caregivers, physicians or others. Although efforts were made to compile a list of references containing information on a variety of topics related to mast cell disorders and mast cells, this is NOT a complete list of all articles available on these subjects. All references were obtained through searches of the PubMed database (http://www.ncbi.nlm.nih.gov/pubmed/) from the US National Library of Medicine, National Institutes of Health. If abstracts and hyperlinks to PubMed pages were available, they were also included in this file. Additional individually relevant references can be obtained by searching the PubMed database at the link provided above. DISCLAIMER: An effort was made to present a variety of opinions when considering inclusion of a reference for this file. Listing of an article in this file does not imply TMS support of its authors or contents and an article that is not listed in this file does not imply a lack of support of its authors or contents. Patients should consult with their doctors, or, if necessary, mast cell specialists, regarding any questions or concerns related to applicability, accuracy and individual usefulness of information presented in these articles. All references and abstracts in this file were obtained from the PubMed database of the US National Library of Medicine, National Institutes of Health (http://www.ncbi.nlm.nih.gov/pubmed).
    [Show full text]
  • Paroxysmal Nocturnal Haemoglobinuria in Pregnancy
    International Journal of Pregnancy & Child Birth Mini Review Open Access Paroxysmal nocturnal haemoglobinuria in pregnancy Abstract Volume 1 Issue 1 - 2016 Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired clonal pluripotent hematopoietic stem cell disorder, resulting due to a mutation of the phosphatidylinositol Salma AlDallal Department of Senior Hematology Laboratory Specialist, Amiri glycan A (PIG-A) gene. A variety of symptoms are observed in the PNH patients Hospital, Kuwait including anemia, thrombosis, and cytopenias. The disease is markedly contradicting with chronic symptoms thereby requiring supportive therapy including folic acid and Correspondence: Salma AlDallal, Senior Hematology iron replacement, periodical transfusions, and glucocorticoids, and anticoagulation Laboratory Specialist, Amiri Hospital Kuwait City, Kuwait, Tel therapy. A new treatment strategy including inhibition of the terminal complement +965-90981981, Email [email protected] cascade with a monoclonal antibody (eculizumab) has also been discussed. The researches in the past reveal that antibody eculizumab tends to decrease the Received: September 27, 2016 | Published: October 14, 2016 complement-mediated intravascular hemolytic and need for periodical transfusion. It also enhances the quality of life in patients with this rare disorder. Although there rare chances of incidence of PNH during pregnancy, it can lead to major maternofetal complications. Although only a few studies have been done on pregnant patients with PNH, these findings
    [Show full text]