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pancytopenia

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https://www.readbyqxmd.com/read/28331068/mutations-in-efl1-an-sbds-partner-are-associated-with-infantile-pancytopenia-exocrine-pancreatic-insufficiency-and-skeletal-anomalies-in-a-shwachman-diamond-like-syndrome
#1
Polina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig, Orly Elpeleg
BACKGROUND: For the final step of the maturation of the ribosome, the nascent 40S and 60S subunits are exported from the nucleus to the cell cytoplasm. To prevent premature association of these ribosomal subunits, eukaryotic initiation factor 6 (eIF6) binds the 60S subunit within the nucleus. Its release in the cytoplasm requires the interaction of EFL1 and SDBS proteins. In Shwachman-Diamond syndrome (SDS), a defective SDBS protein prevents eIF6 eviction, inhibiting its recycle to the nucleus and subsequent formation of the active 80S ribosome...
March 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28329892/ocular-toxoplasmosis-therapy-related-adverse-drug-reactions-and-their-management
#2
M Helfenstein, S Zweifel, D Barthelmes, F Meier, J Fehr, C Böni
Background There are different treatment options for ocular toxoplasmosis (OT). "Classic" therapy consists of pyrimethamine, sulfadiazine and folinic acid combined with systemic steroids and is still widely used. However, potentially severe side effects of this therapy have been reported. The aim of this retrospective study was to evaluate the incidence and types of adverse drug reactions in patients treated for OT. Clinical management of each adverse drug reaction was assessed. Patients and Methods In this retrospective analysis, we reviewed data of patients with OT, who were consecutively examined between December 2011 and December 2015 at the Department of Ophthalmology, University Hospital Zurich...
March 22, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28324272/lusutrombopag-increases-hematocytes-in-a-compensated-liver-cirrhosis-patient
#3
Akira Sakamaki, Takayuki Watanabe, Satoshi Abe, Kenya Kamimura, Atsunori Tsuchiya, Masaaki Takamura, Hirokazu Kawai, Satoshi Yamagiwa, Shuji Terai
A 56-year-old Japanese man with liver cirrhosis (LC) due to hepatitis C virus was admitted to our hospital for radiofrequency ablation of residual tumor following lusutrombopag administration. Laboratory tests revealed thrombocytopenia and leukopenia. The patient's LC was managed, and he was classified as Child-Pugh A. After admission, lusutrombopag was administered for 7 days. The platelet count increased to over 50,000/mm(3) after 7-14 days and returned to previous levels 50 days after administration. Leukocyte and erythrocyte counts also increased in response to the treatment and stayed elevated for over 120 days...
March 21, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28317309/infantile-fibrosarcoma-treated-with-postoperative-vincristine-and-dactinomycin
#4
Hiroki Yoshihara, Yuri Yoshimoto, Yosuke Hosoya, Daisuke Hasegawa, Takafumi Kawano, Akiko Sakoda, Hajime Okita, Atsushi Manabe
Infantile fibrosarcoma is a non-rhabdomyosarcoma soft-tissue sarcoma that occurs in infancy and which has a relatively good prognosis. A vincristine and dactinomycin (VA) regimen has been shown to be effective, although the duration of chemotherapy has not been well defined. We describe the case of a 4-month-old boy with a mass at the left dorsum of the foot who was diagnosed with infantile fibrosarcoma after resection of the tumor, the margin of which was macroscopically positive. VA treatment was carried out with careful monitoring of response and adverse effects...
March 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28299604/fever-splenomegaly-and-pancytopenia-histoplasma-associated-hemophagocytic-lymphohistiocytosis
#5
Arjun Gupta, Mrinal Agrawal, Jesse Jaso
No abstract text is available yet for this article.
March 15, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28292372/clinico-haematological-features-of-paroxysmal-nocturnal-haemoglobinuria
#6
Maria Khan, Saqib Qayyum Ahmad, Mukarram Bashir, Parvez Ahmed, Muhammad Ayyub
The aim of this study was to determine the frequency of various clinico-haematological features in patients suffering from paroxysmal nocturnal haemoglobinuria (PNH). It was an observational study carried out from October 2008 - January 2016. All the patients of PNH, diagnosed on the basis of clinical and laboratory findings and confirmed by CD55 and CD59 deficiency on red cells by means of flow cytometry, were included in the study. A total of 22 patients were diagnosed which included 18 (81.8%) males and 4 (18...
January 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28290981/case-report-of-clinical-vignette-osteopetrosis
#7
John B Moore, Thanh D Hoang, Alfred F Shwayhat
INTRODUCTION: Osteopetrosis is a connective tissue disorder resulting from abnormally dense bone predisposing patients to fracture. The clinical pattern of fractures across time and space as well as suggestive radiographic findings usually raises diagnostic suspicion. Multiple genetic mutations resulting in dysfunctional osteoclasts have been implicated in the pathogenesis of osteopetrosis with variable inheritance patterns. In severe cases, usually inherited in an autosomal recessive pattern, the medullary cavity important in the production of normal blood cell progenitors is replaced by defective endochondral bone, leading to pancytopenia and consequential extramedullary hematopoiesis...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28286628/hemophagocytic-lymphohistiocytosis-an-unclear-nosologic-entity-case-report-of-an-adult-man-with-rising-of-amylase-and-lipase-and-spinal-cord-infiltration
#8
Moris Sangineto, Antonio Perrone, Pasquale Agosti, Viera Boccuti, Anna Campobasso, Carlo Sabbà
Here we present the case of a 57-years old patient affected by hemophagocytic lymphohistiocytosis (HLH), a rare disease characterized by an uncontrolled immune activation, resulting in clinical and biochemical manifestations of extreme inflammation. In a previous hospitalization, the patient showed fever, hepato-splenomegaly, pancytopenia, hyperferrtitinemia, lymphadenopathy and cholestasis. No diagnosis was done, however, he totally recovered after splenectomy. Eight months later, he relapsed, showing also hypofibrinogenemia, hypertriglyceridemia, hemophagocytic signs in bone marrow, cholestatic jaundice, high LDH and high PT-INR...
February 23, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28282599/severe-fatal-protein-malnutrition-and-liver-failure-in-a-morbidly-obese-patient-after-mini-gastric-bypass-surgery-case-report
#9
Mohammad Ali Kalantar Motamedi, Maryam Barzin, Mohammadreza Ebrahimi, Reza Ebrahimi, Alireza Khalaj
INTRODUCTION: Mini-gastric bypass (MGB) is a bariatric surgical technique popular in many centers due to shorter duration, easier technique, and excellent weight loss results. However, it may be associated with postoperative malnutrition. This case describes the clinical course and unfortunate outcome of a morbidly obese patient who underwent MGB and developed malnutrition in the first postoperative year. PRESENTATION OF CASE: A 37 year-old female patient with a BMI of 44kg/m(2) successfully underwent MGB surgery in June 2015 and was discharged uneventfully...
February 21, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28278074/a-clinical-study-of-21-patients-with-hemophagocytic-syndrome-in-295-cases-diagnosed-with-nasal-type-extranodal-nature-killer-t-cell-lymphoma
#10
Na Li, Li Zhang, Jie Liu, Jing Zhang, Hua-Wei Weng, Hong-Yu Zhuo, Li-Qun Zou
Nasal type, extranodal nature killer (NK)/T cell lymphoma-associated hemophagocytic syndrome (NK/T-LAHS) is a rare and fatal disorder with extremely poor prognosis. To investigate its clinical characteristics and risk factors, we retrospectively analyzed 295 patients with nasal type, extranodal nature killer/T cell lymphoma, of which 21 were diagnosed with hemophagocytic syndrome, with a cumulative incidence of 7.1%. The most frequently clinical characteristics were fever, lymphadenopathy, hepatosplenomegaly, pancytopenia, hyperferritinemia, liver dysfunction, hypertriglyceridemia, hypofibrinogenemia and evaluated lactate dehydrogenase (LDH) level...
February 25, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28271814/gata2-null-mutation-associated-with-incomplete-penetrance-in-a-family-with-emberger-syndrome
#11
Aniel Jessica Leticia Brambila-Tapia, José Elías García-Ortiz, Pascal Brouillard, Ha-Long Nguyen, Miikka Vikkula, Blanca Estela Ríos-González, Roberto de Jesús Sandoval-Muñiz, Ana Karen Sandoval-Talamantes, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Lisette Arnaud-Lopez
INTRODUCTION: GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia. OBJECTIVE: To describe a family with Emberger syndrome with incomplete penetrance. METHODS: A DNA sequencing of GATA2 gene was performed in the parents and offspring (five individuals in total). RESULTS: The family consisted of 5 individuals with a GATA2 null mutation (c...
March 8, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28261918/methotrexate-induced-pancytopenia-a-case-series-of-46-patients
#12
Sajal Ajmani, Yogesh Preet Singh, Shiva Prasad, Abhra Chowdhury, Amita Aggarwal, Able Lawrence, Ramnath Misra, Richa Mishra, Vikas Agarwal
AIM: Methotrexate (MTX) has the potential to cause serious adverse reactions and even mortality. We analyzed the predisposing factors and outcome in patients with MTX-induced pancytopenia admitted into our unit from 1996 to 2015. METHODS: Patients were identified by departmental database search. Pancytopenia was defined as white blood cell count (WBC) < 3500 cells/mm(3) , hemoglobin (Hb) < 11 g/dL and platelet count < 150 000 cells/mm(3) . Severe pancytopenia was defined as WBC < 2000 cells/mm(3) , Hb < 10 g/dL and platelet count < 50 000 cells/mm(3) ...
March 5, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28260948/magnitude-of-cytopenias-among-hiv-infected-children-in-bahir-dar-northwest-ethiopia-a-comparison-of-haart-na%C3%A3-ve-and-haart-experienced-children
#13
Yakob Gebregziabher Tsegay, Agerie Tadele, Zelalem Addis, Agersew Alemu, Mulugeta Melku
BACKGROUND: AIDS, caused by HIV, is a multisystem disease that affects hematopoiesis. The aim of this study was to assess cytopenias among HIV-infected children who had a follow-up at Felege Hiwot Referral Hospital, Bahir Dar, northwest Ethiopia. METHODS: An institution-based cross-sectional study was conducted between April and May 2013. Systematic random sampling method was used to select the study participants. Descriptive statistics, independent t-test as well as chi-square and logistic regression were used for analysis...
2017: HIV/AIDS: Research and Palliative Care
https://www.readbyqxmd.com/read/28257102/pre-exposure-gene-expression-in-baboons-with-and-without-pancytopenia-after-radiation-exposure
#14
Matthias Port, Francis Hérodin, Marco Valente, Michel Drouet, Reinhard Ullmann, Matthäus Majewski, Michael Abend
Radiosensitivity differs in humans and likely among primates. The reasons are not well known. We examined pre-exposure gene expression in baboons (n = 17) who developed haematologic acute radiation syndrome (HARS) without pancytopenia or a more aggravated HARS with pancytopenia after irradiation. We evaluated gene expression in a two stage study design where stage I comprised a whole genome screen for messenger RNAs (mRNA) (microarray) and detection of 667 microRNAs (miRNA) (real-time quantitative polymerase chain reaction (qRT-PCR) platform)...
March 2, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28255046/high-prevalence-of-pasteurellosis-in-scottish-flocks
#15
(no author information available yet)
Pasteurellosis in sheepFurther cases of bovine neonatal pancytopenia in calvesIdiopathic necrotising enteritis in a three-month-old calfRuminal acidosis in sheep associated with recent feeding changesSuspected midge hypersensitivity in ewesThese are among matters discussed in the disease surveillance report for November 2016 from SAC Consulting: Veterinary Services (SAC C VS).
March 4, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28248119/familial-hemophagocytic-lymphohistiocytosis-from-autopsy-to-prenatal-diagnosis-report-of-a%C3%A2-case
#16
Marta Ježová, Renata Gaillyová
Hemophagocytic lymphohistiocytosis is a rare immunologic disorder affecting small children. It is characterized by an excessive and injurious immune response which turns rapidly fatal unless promptly and effectively treated. The main clinical signs are prolonged fever, hepatosplenomegaly, bleeding and laboratory findings of pancytopenia, increased serum transaminases, hypertriglyceridemia and hypofibrinogenemia. Four genes responsible for familiar hemophagocytic lymphohistiocytosis, which is inherited in autosomal recessive manner, have been identified so far...
2017: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/28245775/allogeneic-hematopoietic-stem-cell-transplant-for-severe-aplastic-anemia-current-state-and-future-directions
#17
Qixin Sun, Bingyi Wu, Zhigang Zhu, Can Sun, Jingxia Xu, Hui Long, Yuxian Huang, Jianhui Xu, Chaoyang Song
Acquired severe aplastic anemia (SAA) is a rare and life-threatening bone marrow failure syndrome characterized by cytotoxic T-cells excessive activity, hematopoietic precursors decrease and peripheral blood (PB) pancytopenia. Patients with severe aplastic anemia (SAA) died 1 to 2 years after diagnosis due to fatal infections and/or hemorrhagic complications if they went without any effective treatment. Nowadays, Immunosuppressive therapy (IST) and allogeneic hematopoietic stem cell transplantation (HSCT) are still the standard treatment for SAA...
February 27, 2017: Current Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28245399/-single-nucleotide-polymorphism-of-mitochondrial-dna-d-loop-region-in-peripheral-blood-lymphocytes-of-immuno-related-pancytopenia-patients
#18
Qiu-Fan Zhou, Shu-Mei Xu, Hua-Quan Wang, Li-Min Xing, Rong Fu, Zong-Hong Shao
OBJECTIVE: To explore the single nucleotide polymorphism(SNP) of mitochondrial DNA (mtDNA) D-LOOP region in peripheral blood lymphocytes of immuno-related pancytopenia (IRP) patients and its correlation with immune parameters. METHODS: The D-LOOP region in mitochondrial DNA of lymphocytes in peripheral blood mononuclear cells from 43 patients with untreated IRP was detected by polymerase chain reaction(PCR). The PCR products were sequenced by the pros and cons direct sequencing methods...
February 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28241910/image-diagnosis-zinc-induced-copper-deficiency-causing-pancytopenia-recognized-on-bone-marrow-examination
#19
Joyce Johnsrud, Al-Ola Abdallah, Steven A Schichman, Zhifu Xiang
No abstract text is available yet for this article.
2017: Permanente Journal
https://www.readbyqxmd.com/read/28241857/haemophagocytic-syndrome-in-an-adult-suffering-from-pyrexia-of-unknown-origin-an-uncommon-presentation-of-tuberculosis-a-case-report
#20
Wasim Md Mohosin Ul Haque, Md Erfanur Rahman Shuvo, Muhammad Abdur Rahim, Palash Mitra, Tabassum Samad, Jalaluddin Ashraful Haque
BACKGROUND: Tuberculosis is common, can involve various organs of the body and may have diverse presentations. Haemophagocytic syndrome is one of the rare presentations of tuberculosis carrying a very high mortality. Early detection and institution of anti-tuberculosis medications can be life-saving. CASE PRESENTATION: A 23-year-old Bengali man presented with prolonged fever, weight loss, hepatosplenomegaly, pancytopenia and altered liver function. He had high erythrocyte sedimentation rate, positive tuberculin test, granuloma in liver biopsy, and haemophagocytosis was evidenced by histopathological examination of bone marrow...
February 27, 2017: BMC Research Notes
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