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https://www.readbyqxmd.com/read/28814592/fever-and-generalised-lymphadenopathy-in-an-hiv-positive-patient-a-diagnostic-challenge
#1
Bernardo Neves, Pedro Raimundo, Pedro Farinha
Fever and generalised lymphadenopathy is a common presentation of a variety of diseases and a thorough investigation is often necessary for appropriate diagnosis.We present a 53-year-old male patient admitted with fever, weight loss of 15 kg in 3 months and abdominal discomfort. Examination was only remarkable for axillary and inguinal lymphadenopathy. Blood tests showed normocytic normochromic anaemia, cholestasis and a previously unknown HIV-1 infection with lymphocyte CD4 +count of 239 cells/mm(3) and viral load 3...
August 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28805270/histoplasmosis-in-transplant-recipients
#2
REVIEW
Kiran Gajurel, Reshika Dhakal, Stan Deresinski
Histoplasma capsulatum is a dimorphic fungus that most often causes asymptomatic infection in the immunocompetent population. In immunocompromised patients, including solid organ transplant (SOT) and hematopoietic cell transplant (HCT) recipients, however, it is likely to cause severe life-threatening infection. Post-transplant histoplasmosis (PTH) in SOT is uncommon with an incidence of ≤ 1% and is even rarer in HCT patients. The majority of PTH in SOT is diagnosed in the first 2 years following transplantation...
August 14, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28801322/portal-vein-aneurysm-in-thalassaemia
#3
Simi Das, Mousam Dey, Vinay Kumar, Hira Lal
Arterial aneurysms are more common than visceral venous aneurysms. Portal vein aneurysms being the most common type of visceral venous aneurysms. Here, we present an 18-year-old young woman with thalassaemia major, who presented with headache, palpitation, shortness of breath and a recent increase in blood transfusion rate. On clinical examination, she had hepatosplenomegaly. Ultrasonography revealed hepatosplenomegaly with fusiform dilatation of extrahepatic portal vein, which was confirmed to be portal vein aneurysm on contrast enhanced CT...
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28774368/-clinical-feature-and-molecular-diagnostic-analysis-of-the-first-non-caucasian-child-with-infantile-liver-failure-syndrome-type-1
#4
Wei-Xia Lin, Qi-Qi Zheng, Li Guo, Ying Cheng, Yuan-Zong Song
Infantile liver failure syndrome type 1 (ILFS1) is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-tRNA synthetase gene (LARS). This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient, providing reliable evidences for the definite diagnosis of ILFS1. The 2 years and 9 months old male patient was referred to the hospital with hepatosplenomegaly over 1 year. At age 17 months, he was found to have hepatosplenomegaly and anemia. Since then, he had been managed in different hospitals...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28764662/a-case-report-of-co-infection-of-melioidosis-and-cutaneous-leishmaniasis
#5
Isuru Chamika Indeewara Kahandawaarachchi, Gayani Samadara Premawansa, Wipula Warnasuriya, Malka Dassanayake, Enoka Corea
BACKGROUND: Leishmaniasis and melioidosis are frequently reported from the North Central Province of Sri Lanka. However, only one case of co-infection of the two diseases has been reported to date over the world. This is a case report of a patient who had co-infection with cutaneous leishmaniasis and melioidosis and was successfully treated and recovered from the illness. CASE PRESENTATION: A 61 year old female patient with diabetes mellitus presented with fever for one month's duration and was found to have hepatosplenomegaly and an ulcer over the left arm...
August 1, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28762620/a-case-of-chediak-higashi-syndrome-presented-with-accelerated-phase-could-be-treated-effectively-by-unrelated-cord-blood-transplantation
#6
Yan Zhang, Zhiyong Gao, Xinjian Yu
CHS is a rare immunodeficiency syndrome with defects in the functions of cytotoxic cells and neutrophils. Approximately 85% of patients with CHS undergo an AP within the first decade, which is similar to FHLH. Chemotherapy could induce transient remission, but only allogeneic HCT could correct the underlying genetic defect and prevent relapse. We reported a case of CHS diagnosed at 19 months, who had an elder brother who had previously succumbed to the same disease. The little girl presented with severe AP manifestations including recurrent high fever, enlarged superficial lymph nodes, and extraordinary hepatosplenomegaly occupying the whole abdominal and pelvic cavity...
August 1, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28760295/diagnostic-challenges-of-hemophagocytic-lymphohistiocytosis
#7
REVIEW
Zaher K Otrock, Naval Daver, Hagop M Kantarjian, Charles S Eby
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome characterized by excessive activation of the immune system, resulting in overproduction of inflammatory cytokines. Patients usually present with high fever, cytopenias, hyperferritinemia, and hepatosplenomegaly, and their disease process ranges from mild to fatal multiorgan failure. HLH is a heterogeneous group of disorders that can be triggered by infections, neoplasms, or autoimmune diseases. The HLH diagnosis can be difficult to confidently confirm in critically ill patients while waiting for pathology or reference laboratory results to return, delaying the diagnosis with significantly worsened outcomes...
July 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28758587/atypical-form-of-adult-onset-still-s-disease-with-distal-interphalangeal-joints-involvement
#8
Safaa Belghali, Nejla El Amri, Khadija Baccouche, Sadok Laataoui, Monia Bouzaoueche, Hela Zeglaoui, Elyes Bouajina
Distal interphalangeal (DIP) joints involvement in the adult-onset Still's disease (ASD) has been described in some publications but is rarely severe. We report severe DIP joints damages in a young patient with ASD. A 22 years old patient presented to our department complaining of inflammatory joints pain associated with prolonged fever and cutaneous rash. Physical examination identified polyarthritis and hepatosplenomegaly but no lymphadenopathies. After an extensive screening for neoplastic, infectious or hematologic diseases, the patient was finally diagnosed with ASD...
July 28, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28757525/traumatic-pericarditis-caused-by-a-bamboo-twig-in-captive-waterbuck-kobus-ellipsiprymnus
#9
Kyung-Yeon Eo, Hyun-Ho Lee, Seul-Kee Lee, Young-Mok Jung, Yong-Gu Yeo, Ji-Sook Ryu, Sin-Geun Kang, Dongmi Kwak, Oh-Deog Kwon
A 19-year-old captive male waterbuck (Kobus ellipsiprymnus) exhibited traumatic pericarditis at necropsy. The animal weighed 182 kg at necropsy and revealed no remarkable findings in external observation. Severe pericardial adhesions with fibrosis, hepato-diaphragmatic adhesions, straw-colored ascites and hepatosplenomegaly were observed upon examining the internal organs. Perforations made by a 12-cm-long sharp-ended bamboo twig were detected in the reticulum, diaphragm, pericardium, lung and liver. Trueperella pyogenes was identified in pericardial fluid...
July 31, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28750787/high-dose-filgrastim-treatment-of-nonregenerative-pancytopenia-associated-with-chronic-canine-ehrlichiosis
#10
Mauricio Palacios, Rafael Arteaga, Gustavo Calvo
OBJECTIVE: To report the management and outcome of a dog with canine monocytic ehrlichiosis and nonregenerative pancytopenia, with high doses of filgrastim. CASE DESCRIPTION: An 8-year-old male, mixed-breed dog, weighing 5.6kg, presented with a 1-month history of hyporexia, adynamia, and a weight loss of approximately 1kg. The general condition of the dog was observed to be poor as follows: lethargy, tachycardia, marked pallor of the mucous membranes, petechiae on the abdomen, hepatosplenomegaly, and cervical lymphadenopathy...
March 2017: Topics in Companion Animal Medicine
https://www.readbyqxmd.com/read/28736246/in-vitro-osteoclastogenesis-from-gaucher-patients-cells-correlates-with-bone-mineral-density-but-not-with-chitotriosidase
#11
C Bondar, J Mucci, A Crivaro, M Ormazabal, R Ceci, B Oliveri, D González, P Rozenfeld
Gaucher disease (GD) is caused by mutations on the gene encoding for the lysosomal enzyme glucocerebrosidase. Type I GD (GD1) patients present anemia, hepatosplenomegaly and bone alterations. In spite of treatment, bone alterations in GD patients persist, including poor bone mineral density (BMD). Mechanisms leading to bone damage are not completely understood, but previous reports suggest that osteoclasts are involved. Chitotriosidase (CHIT) is the most reliable biomarker used in the follow up of patients, although its correlation with bone status is unknown...
July 20, 2017: Bone
https://www.readbyqxmd.com/read/28732737/microrna-181a-and-its-target-smad-7-as-potential-biomarkers-for-tracking-child-acute-lymphoblastic-leukemia
#12
Marwa Nabhan, Manal L Louka, Eman Khairy, Fathy Tash, Randa Ali-Labib, Safinaz El-Habashy
Acute lymphoblastic leukemia (ALL) is the most common pediatric hematologic tumor. MiR-181a was expected to have a role in the development of hematological malignancies; it might act as tumor suppressor or oncogene. Smad7 was selected as miR-181a target pair. It is a negative regulator for the TGF-β1 signaling pathway. In this study, relative expression levels of miR-181a by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR), both Smad 7 and TGF β1 proteins levels by enzyme linked immunosorbent assay (ELISA) were all measured in serum of 60 child, 30 with ALL and 30 age and sex matched healthy child as control group...
July 18, 2017: Gene
https://www.readbyqxmd.com/read/28732360/a-systematic-review-of-malignancy-associated-hemophagocytic-lymphohistiocytosis-that-needs-more-attentions
#13
REVIEW
Hongluan Wang, Lixia Xiong, Weiping Tang, Ying Zhou, Fei Li
As an infrequent but potentially life-threatening hyperinflammatory syndrome, hemophagocytic lymphohistiocytosis (HLH) is clinically characterized with prolonged fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. Malignancy-associated HLH (M-HLH), one type of acquired HLH, usually presents variable overlaps of symptoms with other types of HLH, thus resulting in higher incidence of misdiagnosis and mortality. In recent years, with the increasing awareness to this disease, the diagnosis and management of HLH have gained more and more attention, and improvements have been made accordingly...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732017/disease-severity-in-patients-with-visceral-leishmaniasis-is-not-altered-by-co-infection-with-intestinal-parasites
#14
Fitsumbrhan Tajebe, Mulusew Getahun, Emebet Adem, Asrat Hailu, Mulualem Lemma, Helina Fikre, John Raynes, Aschalew Tamiru, Zemenay Mulugeta, Ermias Diro, Frederic Toulza, Ziv Shkedy, Tadesse Ayele, Manuel Modolell, Markus Munder, Ingrid Müller, Yegnasew Takele, Pascale Kropf
Visceral leishmaniasis (VL) is a neglected tropical disease that affects the poorest communities and can cause substantial morbidity and mortality. Visceral leishmaniasis is characterized by the presence of Leishmania parasites in the spleen, liver and bone marrow, hepatosplenomegaly, pancytopenia, prolonged fever, systemic inflammation and low body mass index (BMI). The factors impacting on the severity of VL are poorly characterized. Here we performed a cross-sectional study to assess whether co-infection of VL patients with intestinal parasites influences disease severity, assessed with clinical and haematological data, inflammation, cytokine profiles and BMI...
July 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28729050/an-infant-with-concurrent-serotype-6c-invasive-pneumococcal-disease-and-infectious-mononucleosis
#15
Naoko Nishikawa-Nakamura, Takafumi Okada, Keiko Nishimura, Tsuyako Iwai, Kimiko Ubukata, Satoshi Iwata, Asayuki Iwai
Streptococcus pneumoniae is a main causative agent of serious invasive bacterial infections. However, concurrent infection with invasive pneumococcal disease (IPD) and viral infectious mononucleosis (IM) is rare. We report an infant with serotype 6C infection causing IPD occurring simultaneously with IM. A previously healthy 11-month-old girl referred to our hospital because of fever, leukopenia, and elevated C-reactive protein presented to us with disturbance of consciousness, tachycardia, tachypnea and agranulocytosis...
July 17, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#16
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28710306/ruxolitinib-treatment-in-an-infant-with-jak2-polycythaemia-vera-associated-budd-chiari-syndrome
#17
Mehmet Enes Coskun, Sue Height, Anil Dhawan, Nedim Hadzic
Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction commonly seen with myeloproliferative neoplasms (MPNs). Polycythaemia vera (PV) is a very rare MPN in childhood. This is the youngest reported patient diagnosed with PV and BCS secondary to JAK V617F mutation.A 26-month-old girl was admitted with a 5-month history of abdominal distension, hepatosplenomegaly and ascites. Imaging studies revealed occlusion of the right hepatic vein and marked attenuation of the middle and left hepatic veins...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28692549/a-case-of-familial-hemophagocytic-lymphohistiocytosis-type-4-with-involvement-of-the-central-nervous-system-complicated-with-infarct
#18
Saliha Ciraci, Alper Ozcan, Mustafa M Ozdemir, Samuel C C Chiang, Bianca Tesi, Akif M Ozdemir, Musa Karakukcu, Turkan Patiroglu, Can Acipayam, Selim Doganay, Hakan Gumus, Ekrem Unal
BACKGROUND: Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. METHOD: We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit...
July 7, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28685316/-liver-biopsy-in-children-and-adolescents-preliminary-morphological-examinations-in-diffuse-liver-disease
#19
REVIEW
C Lackner, A S Knisely
BACKGROUND: Frequencies of types of liver disease differ between adults and nonadults (NA). OBJECTIVES: The particular problems encountered in interpreting liver-biopsy findings in NA often require referral in consultation.  To permit this efficiently, we recommend specific approaches to light microscopy, with special stains and immunohistochemistry, as well as to ultrastructural study. METHODS: Prosection and the choice of special stains are described, and are discussed in relation to clinical questions...
July 2017: Der Pathologe
https://www.readbyqxmd.com/read/28679983/a-case-of-cytomegalovirus-infection-with-splenic-infarction-and-an-esophageal-ulcer-in-an-immunocompetent-adult
#20
Yoshiaki Shimizu, Takuya Komura, Takuya Seike, Ryotaro Nakai, Hitoshi Omura, Takashi Kagaya, Hajime Ohta, Satomi Kasashima, Atsuhiro Kawashima, Masashi Unoura
BACKGROUND: Recently, morbidities due to primary cytomegalovirus (CMV) infection have increased in young Japanese adults because of decreased anti-CMV antibodies in them. CMV infections are typically resolved naturally in immunocompetent individuals, and complications rarely occur. Here we present the case of an immunocompetent adult with CMV infection complicated by splenic infarctions and an esophageal ulcer. CASE REPORT: A 37-year-old male complaining of a prolonged fever and liver injury was admitted to hospital for a closed examination...
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
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