To investigate the mixed infection and analyze risk factors in children with severe adenovirus pneumonia.A retrospective analysis was performed on the clinical data of 756 children with adenovirus pneumonia between June 2009 and June 2011. Pathogens and risk factors were studied in 216 severe cases.Of the 216 severe cases, 138 (63.9%) were aged from 6 months to 2 years, and 161 (74.5%) developed the disease in the winter and spring; 177 (81.9%) were affected by 1-4 pathogens besides adenovirus, including 74 cases (34.3%) infected with one pathogen as an addition. A total of 334 pathogen strains were identified from the respiratory secretions and sera of the 216 cases. Of them, 163 (48.8%) were bacterial strains, dominated by Gram-negative bacteria (124 strains), 108 (32.3%) were viral strains, and 40 (12.0%) were fungal strains. Multivariate logistic regression analysis indicated that congenital heart disease, congenital airway abnormalities, nutritional anemia, recurrent pulmonary infection, and surgical history were the independent risk factors for severe adenovirus pneumonia in children, with odds ratios of 3.3, 11.1, 7.2, 14.3 and 12.9 respectively (P<0.05).Severe adenovirus pneumonia is mostly seen in children aged from 6 months to 2 years and occurs frequently in the winter and spring. Many cases are also infected with other pathogens, most commonly Gram-negative bacteria. Congenital heart disease, congenital airway abnormalities, nutritional anemia, recurrent pulmonary infection and surgical history are the independent risk factors for severe adenovirus pneumonia in children.

A 61-year-old woman with recurrent non-small cell lung cancer presented with thrombocytopenia, microangiopathic hemolytic anemia, neurological abnormalities, renal failure and a fever that appeared during chemotherapy with gemcitabine and bevacizumab. She was diagnosed with drug-induced thrombotic thrombocytopenic purpura (TTP). After the discontinuation of chemotherapy, the administration of recombinant human soluble thrombomodulin and fresh-frozen plasma rapidly ameliorated the TTP. Hypertension preceded the onset of TTP and required the administration of quadruple therapy on admission. However, after three months, the hypertension was controllable without anti-hypertensive drugs. Twelve months later, the ninth course of vinorelbine was administered safely, preventing the patient's lung cancer from progressing.

Autoimmune cytopenias are a frequent complication in CLL, occurring in approximately 5-10% of the patients. The most common manifestation is autoimmune haemolytic anaemia, followed by immune thrombocytopenia and only rarely pure red blood cell aplasia or autoimmune granulocytopenia. Initial treatment is as for the idiopathic autoimmune cytopenias, with most patients responding to conventional corticosteroid therapy. Patients, who do not respond to conventional therapy after 4-6 weeks, should be considered for alternative immunosuppression, monoclonal antibody therapy or splenectomy. While randomized trials demonstrating the benefit of rituximab in CLL-related autoimmune diseases are still lacking, there are considerable data in the literature that provide evidence for its effectiveness. The monoclonal antibody alemtuzumab also displays considerable activity against both the malignant disease and the autoimmune complication in patients with CLL, although at the expense of greater toxicity. A number of new monoclonal antibodies, such as ofatumumab, GA-101, lumiliximab, TRU-016, epratuzumab, and galiximab, are currently investigated in CLL and their activity in CLL-related autoimmune cytopenias should be evaluated in future studies.

We sought to evaluate whether patients with sickle cell anemia (SCA) have left ventricular (LV) systolic dysfunction.We conducted a Medline, Embase, Ebscohost, and Google scholar literature search articles published before April 2010. All studies that compared any measure of LV function (eg, ejection fraction [EF], fractional shortening [FS], or cardiac index [CI]) between normal control subjects and SCA (hemoglobin SS) patients were included. Among 57 studies that qualified for review, 19 studies including 841 SCA patients and 554 control subjects met the inclusion criteria. There were no significant differences in either LVEF (Hedge g = 0.15; 95% confidence interval -0.84 to 1.14; P = .76) or FS (P = .28) between SCA patients and control subjects. CI was significantly higher (P < .001) and LV end-systolic stress-volume index (load independent) was significantly lower (P < .001) in SCA patients. All LV systolic measures inversely correlated with age (all P < .001). LV end-systolic and -diastolic dimensions were significantly higher in SCA patients and increased with age.SCA patients have similar load-dependent but lower load-independent measures of LV systolic function than control subjects. SCA is associated with LV dilation. LV structural and functional abnormalities appear to be age dependent with progressive LV dilation and impairment over time.

BACKGROUND:

We report the results of a cost effective improvement in the protocol for detection of haemoglobin variants which incorporates the findings of peripheral blood film along with the results of HPLC.

FINDINGS:

A total of n = 10,844 samples were received from January 2011 till August 2011. Diagnosis of haemoglobinopathy was made in n = 1123 samples while other abnormalities included iron deficiency anaemia, megaloblastic anaemia, malarial parasite, autoimmune haemolytic anaemia and G6PD deficiency (n = 2473).

CONCLUSION:

We diagnosed 23% of abnormalities other than haemoglobinopathy by reviewing peripheral smear of samples received for haemoglobin electrophoresis. This resulted in providing proper diagnosis to the referring physician without increment in cost.

Fanconi Anemia (FA) and Bloom Syndrome share overlapping phenotypes including spontaneous chromosomal abnormalities and increased cancer predisposition. The FA protein pathway comprises an upstream core complex that mediates recruitment of two central players, FANCD2 and FANCI, to sites of stalled replication forks. Successful fork recovery depends on the Bloom's helicase BLM that participates in a larger protein complex ('BLMcx') containing topoisomerase III alpha, RMI1, RMI2 and replication protein A. We show that FANCD2 is an essential regulator of BLMcx functions: it maintains BLM protein stability and is crucial for complete BLMcx assembly; moreover, it recruits BLMcx to replicating chromatin during normal S-phase and mediates phosphorylation of BLMcx members in response to DNA damage. During replication stress, FANCD2 and BLM cooperate to promote restart of stalled replication forks while suppressing firing of new replication origins. In contrast, FANCI is dispensable for FANCD2-dependent BLMcx regulation, demonstrating functional separation of FANCD2 from FANCI.

Fanconi anaemia (FA) is a genetic cancer predisposition disorder associated with cytogenetic instability, bone marrow failure, and a pleiotropic cellular phenotype including low thresholds of responses to oxidative stress, cross-linking agents, and selected cytokines. This study was aimed at defining the scope of abnormalities in gene expression using the publicly available FA Transcriptome Consortium (FTC) database (Gene Expression Omnibus, 2009 and publicly available as GSE16334). We evaluated the data set that included transcriptomal analyses on RNA obtained from low density bone marrow cells (BMC) from 20 FA patients and 11 healthy volunteers, by seeking to identify changes in expression of over 22,000 genes, including a set of genes involved in: a) bioenergetic pathways; b) antioxidant activities; c) response to stress and metal-chelating proteins; d) inflammation-related cytokines, and e) DNA repair. Ontological analysis of genes expressed at magnitudes of 1.5 fold or greater demonstrated significant suppression of genes in the categories of a) energy metabolism; b) antioxidant activities; and c) stress and chelating proteins. Enhanced expression was found for 16 of 26 genes encoding inflammatory cytokines. A set of 20 out of 21 transcripts for DNA repair activities were down-regulated; four of these transcripts related to type II topoisomerase. The data provide evidence for alterations in gene regulation of bioenergetic activities, redox-related activities, stress and metal-chelating proteins, and of some selected DNA repair activities in FA patients. This article is protected by copyright. All rights reserved.

Lupus enteritis is a rare and poorly understood cause of abdominal pain in patients with systemic lupus erythematosus (SLE). In this study, we report a series of 7 new patients with this rare condition who were referred to French tertiary care centers and perform a systematic literature review of SLE cases fulfilling the revised ACR criteria, with evidence for small bowel involvement, excluding those with infectious enteritis. We describe the characteristics of 143 previously published and 7 new cases. Clinical symptoms mostly included abdominal pain (97%), vomiting (42%), diarrhea (32%) and fever (20%). Laboratory features mostly reflected lupus activity: low complement levels (88%), anemia (52%), leukocytopenia or lymphocytopenia (40%) and thrombocytopenia (21%). Median CRP level was 2.0 mg/dL (range 0-8.2 mg/dL). Proteinuria was present in 47% of cases. Imaging studies revealed bowel wall edema (95%), ascites (78%), the characteristic target sign (71%), mesenteric abnormalities (71%) and bowel dilatation (24%). Only 9 patients (6%) had histologically confirmed vasculitis. All patients received corticosteroids as a first-line therapy, with additional immunosuppressants administered either from the initial episode or only in case of relapse (recurrence rate: 25%). Seven percent developed intestinal necrosis or perforation, yielding a mortality rate of 2.7%. Altogether, lupus enteritis is a poorly known cause of abdominal pain in SLE patients, with distinct clinical and therapeutic features. The disease may evolve to intestinal necrosis and perforation if untreated. Adding with this an excellent steroid responsiveness, timely diagnosis becomes primordial for the adequate management of this rare entity.

Background & objectives: Aplastic anaemia is a rare haematological disorder characterized by pancytopenia with a hypocellular bone marrow. It may be inherited/genetic or acquired. Acquired aplastic anaemia has been linked to many drugs, chemicals and viruses. Cytogenetic abnormalities have been reported infrequently with acquired aplastic anaemia. Majority of the studies are in adult patients from the West. We report here cytogenetic studies on paediatric patients with acquired aplastic anaemia seen in a tertiary care hospital in north India.

Methods:

Patients (n=71, age 4-14 yr) were diagnosed according to the guidelines of International Agranulocytosis and Aplastic Anaemia Study. Conventional cytogenetics with Giemsa Trypsin Giemsa (GTG) banding was performed. Karyotyping was done according to the International System for Human Cytogenetics Nomenclature (ISCN).

Results:

Of the 71 patients, 42 had successful karyotyping where median age was 9 yr; of these 42, 27 (64.3%) patients had severe, nine (21.4%) had very severe and six (14.3%) had non severe aplastic anaemia. Five patients had karyotypic abnormalities with trisomy 12 (1), trisomy 8 (1) and monosomy 7 (1). Two patients had non numerical abnormalities with del 7 q - and t (5:12) in one each. Twenty nine patients had uninformative results. There was no difference in the clinical and haematological profile of patients with normal versus abnormal cytogenetics although the number of patients was small in the two groups. Interpretation & conclusions: Five (11.9%) patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

The aim of this study was to investigate the expression level of the SALL4 gene and its clinical significance in patients with acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). Real-time quantitative PCR (RQ-PCR) was performed to detect the expression level of SALL4 mRNA in bone marrow mononuclear cells (BMMNC) from 35 AML, 12 CML patients and 24 iron deficiency anemia patients as controls. The results indicated that the expression level of SALL4 in AML (0%-14%, median 1.43%) was obviously higher than that in controls (0% - 1%, median 0%) (P < 0.001). SALL4 expression was positive in 65.7% (23/35) AML patients. The frequency of SALL4 expression was in M2 (86.7%, 13/15) > M3 (75.0%, 6/8) > M1 (60.0%, 3/5) > M4 (14.3%, 1/7), and the difference among 4 groups was statistically significant (P = 0.008); there was no correlation of the frequency of SALL4 expression with the age, sex, white blood cell WBC count, hemoglobin concentration, platelet count and chromosomal abnormalities of AML patients (P > 0.05). All the 13 CML cases showed positive expression of SALL4 gene (1% - 128%, median 19.39%), which was higher than that in controls (P < 0.001). The analysis of receiver operating characteristic (ROC) curve showed the area under ROC curve (AUC) of AML and CML were 0.983 (95% confidence interval: 0.95 - 1.017) and 0.997 (95% confidence interval: 0.986 - 1.007) respectively. It is concluded that SALL4 expression is a common molecular event and can be considered as a molecular marker for assisting diagnosis of AML and CML.