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Fanconi Anaemia is an autosomal recessive disorder, which is characterised by progressive pancytopenia, café au lait spots (>50%), bruising, petechie, recurrent infections, short height (50%), and thumb and radial bone anomalies (40%). Herein, is presented a case of a lean emaciated female child, who presented with the chief complaints of fever, loose stools and decreased appetite for one month reported at Sindh Government General Hospital, Karachi, on February, 1, 2023. She had cutaneous findings of hyperpigmentation and café au lait spots and a tri-phalangeal thumb. On investigation, pancytopenia and a low reticulocyte count of 0.7% was also observed. Karyotype and chromosomal breakage test induced by Diepoxybutane confirmed her as a case of Fanconi Anaemia.

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BACKGROUND: To develop and internally validate a prediction model for identifying patients with hematologic diseases of fall risk. RESEARCH DESIGN AND METHODS: This is a prospective cohort study from a prospective collection of data for 6 months. We recruited 412 patients with hematologic diseases in medical institutions and home environment of China. The outcome of the prediction model was fall or not. These variables were filtered via univariable logistic analysis, LASSO, and multivariable logistic analysis. We adopt an internal validation method of K-fold cross validation. The area under the ROC curve and the H-L test were used to evaluate the discrimination and calibration of the model. RESULTS: Five influencing factors were identified multivariable logistic regression analysis. The established model equation is as follows: the H-L goodness-of-fit test of the model p > 0.05. The area under the ROC curve of train is 0.957 (95% CI: 0.936 ~ 0.978), and the area under the ROC curve of test is 0.962 (95% CI: 0.884 ~ 1), so the model calibration and discriminant validity are good. CONCLUSION: Our equation has good sensitivity and specificity in predicting the fall risk of patients with hematologic diseases, and has certain positive significance for clinical assessment of their fall risk. TRIAL REGISTRATION NUMBER: ChiCTR2200063940.

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AIM: To reach a consensus on question items for early identification of unmet psychosocial needs of school-aged siblings of children with cancer and blood disease. DESIGN: Modified Delphi method. METHODS: Twenty-three studies were reviewed to extract question items, which were classified into seven categories. A total of 39 question items were selected for this study. The selected question items were carefully considered using the modified Delphi method. The participants were 28 medical staff from a childhood cancer hub hospital and 20 sibling support group staff members. The first round consisted of a questionnaire (n = 48); the second, a focus group interview (n = 8) and the third, another questionnaire (n = 8). The first and third rounds used a 5-point Likert scale. This survey was conducted from July to October 2021. RESULTS: A total of 38, 26, and 24 question items were included in the first, second, and third rounds respectively. A total of 24 question items were extracted using the modified Delphi method to identify siblings' unmet psychosocial needs: relationship with family members, 3; daily life issues, 4; stress, 6; emotions, 3; information, 3; relationships with medical staff, 1 and social and medical resources, 4. Seven categories and 24 question items were confirmed as items for identifying the unmet psychosocial needs of school-aged siblings of children with cancer and blood disease.

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Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. This often leads to liver iron overload and gallstones. CDA II is caused by biallelic mutations in the SEC23B gene. In this study, we report 9 new CDA II cases and identify 16 pathogenic variants, 6 of which are novel. The newly reported variants in SEC23B include three missenses (p.Thr445Arg, p.Tyr579Cys, and p.Arg701His), one frameshift (p.Asp693GlyfsTer2), and two splicing variants (c.1512-2A>G, and the complex intronic variant c.1512-3delinsTT linked to c.1512-16_1512-7delACTCTGGAAT in the same allele). Computational analyses of the missense variants indicated a loss of key residue interactions within the beta sheet and the helical and gelsolin domains, respectively. Analysis of SEC23B protein levels done in patient-derived lymphoblastoid cell lines (LCLs) showed a significant decrease in SEC23B protein expression, in the absence of SEC23A compensation. Reduced SEC23B mRNA expression was only detected in two probands carrying nonsense and frameshift variants; the remaining patients showed either higher gene expression levels or no expression changes at all. The skipping of exons 13 and 14 in the newly reported complex variant c.1512-3delinsTT/c.1512-16_1512-7delACTCTGGAAT results in a shorter protein isoform, as assessed by RT-PCR followed by Sanger sequencing. In this work, we summarize a comprehensive spectrum of SEC23B variants, describe nine new CDA II cases accounting for six previously unreported variants, and discuss innovative therapeutic approaches for CDA II.

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Serious infections are characterized by rapid progression, poor prognosis, and difficulty in diagnosis. Recently, a new technique known as nanopore-targeted sequencing (NTS) was developed that facilitates the rapid and accurate detection of pathogenic microorganisms and is extremely suitable for patients with serious infections. The aim of our study was to evaluate the clinical application of NTS in the diagnosis and treatment of patients with serious infections. We developed an NTS technology that could detect microorganisms within a 6-h window based on the amplification of the 16S rRNA gene of bacteria, the internal transcribed spacer region of fungi, and the rpoB gene of Mycobacterium. The NTS detection results were compared with those of blood cultures and anal swabs from 50 patients with blood diseases suffering serious infections. The patient's condition before and after NTS was compared. The response rate and the infection-related mortality after the adjustment of antibiotics based on NTS were calculated. The positivity rate of pathogens was highest in NTS (90%), followed by blood culture (32.6%) and anal swabs (14.6%). After adjusting antibiotics for bacteria and fungi detected by NTS, the patients' condition improved significantly. Moreover, the response rate of anti-infective treatment based on NTS was 93.02% (40/43), and infection-related mortality was reduced to 0. NTS is an effective method to identify pathogens in the blood specimens of patients with serious infections and can guide anti-infection treatment and reduce infection-related mortality. IMPORTANCE We introduce the application of NTS in blood samples of patients with serious infections and expound the efficiency and accuracy of NTS in detecting pathogenic microorganisms. Our work builds on the considerable interest of the scientific community in the management of serious infection. This issue is becoming more pressing, especially since the incidence of blood diseases is increasing year by year and hematopoietic stem cell transplantation (HSCT) has been widely used in benign and malignant blood diseases in recent years. The infection progression of these patients is faster, and the study further demonstrates the effectiveness of NTS in guiding the diagnosis and treatment of patients with severe infections. We firmly believe that this method will guide clinicians to adjust anti-infection strategies and bring significant benefits to patients, and our study will have implications for the future clinical application of NTS in all kinds of patients with serious infections.

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Thalassemia is an inherited disease that causes the production of damaged hemoglobin chains. Patients are diagnosed with thalassemia major due to major clinical signs and deep anemia. This study aimed to examine the major thalassemia and psychosocial aspect of it, which is such an important issue, to serve as a roadmap for better handling these patients and to contribute to the literature. The method used in this study was narrative review. A literature review was conducted by searching the materials published in databases including Web of Science, PubMed, Scopus, and Google Scholar search engine from 2001 to 2020. Besides WHO website was searched. Thalassemia major damages the heart, liver, lungs and endocrine organs due to anemia and iron accumulation. In addition, the patient may experience mental and social problems due to the congenital nature of the disease and its lifelong duration. The psychosocial problems and treatment burdens of thalassemia patients are very high. There are many studies about the prevalence and physical consequences of thalassemia. However, there are not enough articles and researches describing the psychosocial effects of thalassemia on patients and what can be done about these effects. For this reason, this paper focuses on the process of thalassemia and the psychosocial problems it creates to contribute to the literature and to be a roadmap for better handling these patients.

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Background and Objectives: Parvovirus B19 (B19V) is usually transmitted through respiratory tract, but can also be received through blood transfusion. This study evaluated the seroprevalence, DNA existence, and circulating genotypes of B19V in hemophilia patients. Materials and Methods: Serum samples of cases and controls were analyzed for B19V using ELISA and real-time PCR. Finally, obtained sequences were used for genotyping. Results: Among cases, 3% were anti-B19V IgM positive and 47% were anti-B19V IgG positive and B19V DNA was detected in 16% of them. However, among controls, 38% were anti-B19V IgG positive (P>0.05) and 5% were B19V DNA positive (P= 0.019). Also ∼13% of cases were positive and all of controls were negative for IgG avidity test (P= 0.029). Viral load in case group was higher than control group (P = 0.037). Conclusion: Since hemophilia patients receive large amounts of blood factors, prevalence of B19V in these patients might be higher than normal subjects.

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BACKGROUND: Although the peripherally inserted central catheter (PICC) has been widely utilized, there is still a lack of large sample size-based relevant risk factor investigation for the children with blood diseases in a single center of China. METHODS: We performed a retrospective cohort study through including a total of 2,974 cases aged 0-18 years with blood diseases and PICC insertion. Success rates of different PICC operation techniques were compared. Targeting the common PICC-related complications, we performed the univariate and multivariate logistic regression analyses. Then, based on the screened risk factors, the prediction modeling analysis of binary logistic regression was conducted. RESULTS: The "B-ultrasound plus Seldinger technology" showed a higher success rate of PICC placement than the "non-assistive blind insertion". The catheter type was closely linked to the occurrence of catheter occlusion. The age, insertion site, and catheter type might be the risk factors of phlebitis, while the insertion site, operation season, and catheter type might be associated with catheter fracture. Furthermore, based on these risk factors, we established the nomogram prediction models of phlebitis, rash occurrence, and catheter fracture, respectively, which shows a good predictive ability and a moderate level of predictive accuracy. CONCLUSIONS: Our findings first shed new light on the preoperative estimation of the risk factors of PICCrelated complications for the children with blood diseases in China.

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Thrombocytopenia is a frequent occurrence in a variety of hematopoietic diseases; however, the details of the mechanism leading to low platelet count remain elusive. Megakaryocytes are a series of progenitor cells responsible for the production of platelets. Alterations in megakaryocytes in the bone marrow are a causative factor resulting in thrombocytopenia in varied diseases. Based on ultrastructural analysis of incidentally encountered megakaryocytes in 43 patients with blood diseases marked by low platelet counts, electron micrographs demonstrated that aberrant megakaryocytes predominated in idiopathic thrombocytopenic purpura, aplastic anemia, and myelodysplastic syndrome; autophagy, apoptosis, and cellular damage in megakaryocytes were a prominent feature in aplastic anemia. On the other hand, poorly differentiated megakaryocytes predominated in acute megakaryoblastic leukemia (AMKL) although damaged megakaryocytes were seen in non-AMKL acute leukemia. This paper documents the ultrastructural alterations of megakaryocytes associated with thrombocytopenia and reveals distinctive features for particular blood diseases. A comment is made on future avenues of research emphasizing membrane fusion proteins.

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Everyday life of adolescents with sickle cell disease - A qualitative, explorative and participative photovoice study Abstract. Background: Sickle cell disease (SCD) is a chronic, inherited haematological condition that occurs rarely in Switzerland. The disease is characterized by recurring attacks of pain and serious infections that require frequent hospitalisation. Due to its rarity, little is known about the disease's impact on the daily lives of afflicted adolescents. Aim: The study investigated how the disease impacts on the lives of adolescents with SCD and identified the most pertinent challenges they face in their daily activities. Knowledge gained serves to improve support offered by the Paediatric Haematological Centre. Method: Qualitative data was collected using the participative method Photovoice. This involved an integrated group discussion of photographs taken by the participants, and was followed by reconstructive analysis. Results: Issues voiced covered living environment (e. g. family), coping strategy (e. g. peers) and health literacy (e. g. understanding their condition). These issues were perceived as challenges as well as a resource. Self-management and Shaping of health management emerged as key issues for a support and care concept in nursing and health counselling of SCD. Conclusions: Adolescents with SCD exhibited health literacy in various areas of their lives that can be fostered by the health care system. A most promising approach is genuine participation and inclusion of peers in both councelling and research.

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The major causes of rare extracranial carotid artery aneurysms are arteriosclerosis, trauma, and radiation therapy. Here, we describe a patient with an extracranial carotid artery aneurysm caused by a myeloproliferative neoplasm. A 67-year-old woman underwent excision of an irregularly shaped aneurysm in the left common carotid artery and a saphenous vein graft without major complications. The pathologic findings revealed abscess formation and atypical megakaryocyte infiltration, which was also seen in her bone marrow, indicating that the aneurysm was caused by a myeloproliferative neoplasm.

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A method is described for the electrochemical determination of squamous cell carcinoma (SCC) antigen, and by testing the effect of 30 nm gold nanoparticles (GNPs). Three comparative studies were performed in the presence and absence of GNPs, and with agglomerated GNPs. The divalent ion Ca(II) was used to induce a strong agglomeration of GNPs, as confirmed by colorimetry and voltammetry. Herein, colorimetry was used to test the best amount of salt needed to aggregate the GNPs. Despite, voltammetry was used to determine the status of biomolecules on the sensor. The topography of the surface of ZnO-coated interdigitated electrodes was analyzed by using 3D-nano profilometry, scanning electron microscopy, atomic force microscopy and high-power microscopy. The interaction between SCC antigen and antibody trigger vibrations on the sensor and cause dipole moment, which was measured using a picoammeter with a linear sweep from 0 to 2 V at 0.01 V step voltage. The sensitivity level was 10 fM by 3σ calculation for the dispersed GNP-conjugated antigen. This indicates a 100-fold enhancement compared to the condition without GNP conjugation. However, the sensitivity level for agglomerated GNPs conjugated antibody was not significant with 100 fM sensitivity. Specificity was tested for other proteins in serum, namely blood clotting factor IX, C-reactive protein, and serum albumin. The SCC antigen was quantified in spiked serum and gave recoveries that ranged between 80 and 90%. Graphical abstractSchematic representation of SCC (squamous cell carcinoma) antigen determination using divalent ion induced agglomerated GNPs. Sensitivity increment depends on the occurrence of more SCC antigen and antibody binding event via GNPs integration. Notably, lower detection limit was achieved at femto molar with proper orientation of biological molecules.

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BACKGROUND: A considerable amount of research has been put into the explanation of the origin of the vampire myth by focussing on possible symptoms of the vampire; however, very little attention has been given to the victims. AIMS: To elucidate whether the myth of vampire victims follows the course of disease of acute leukaemia. METHOD: We studied three classical vampire novels published 1819-1897, focusing on 8 victims and their symptoms. The novels were chosen based on their iconic status in classic vampire literature, which defined the vampire genre and the symptoms of the victims for many years. The symptoms and course of disease following vampire attacks described in these novels were then compared with symptoms commonly seen in untreated acute leukaemia and other contemporary disorders. RESULTS: The earliest novel (1819) did not provide a sufficient description of any symptoms in detail; however, the later novels (1872 and 1897) both provided elaborate portrayals of symptoms and course of the disease. The patients studied were all factitious-explaining the variation in symptoms; however, they share common features. One case, a young woman named Lucy Westenra, described by Bram Stoker, 1897, mirrors a textbook example of an acute leukaemia patient-despite being described before the time of common acknowledgment of the diagnosis. CONCLUSION: Victims in the gothic vampire novels from the nineteenth century could very likely be inspired by real-life acute leukaemia patients.

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Modern day treatment of blood cancers is characterised by the introduction of targeted therapies. Alone or in combination with more traditional treatments, administered in a hospital or an outpatient setting, these new medicines possess specific mechanisms of action and particular side effects in addition to or instead of those of traditional treatments. To understand the changes to the care management of patients taking these new treatments, it is necessary to describe their mechanism of action and their side effects.

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OBJECTIVES: Despite specific recommendations issued by the French Public Health Council (Haut Conseil de Santé Publique), the vaccination coverage of patients with cancer or malignant blood disease remains insufficient. The aim of this study was to assess the vaccination of chemotherapy patients by their general practitioner (GP). METHODS: A survey was conducted between March and July 2017 in 4 French departments to describe the immunization practices of GPs for their chemotherapy patients and provide solutions to help to increase the vaccination rate. RESULTS: Of the 1610 GPs who received the questionnaire, 287 (17.8%) returned a usable form; 92.6% were globally pro-vaccine. One third of GPs (37.3%) declared that they vaccinated all their chemotherapy patients. The GPs (n=180) who never or only sometimes vaccinated their chemotherapy patients mainly voiced concerns about not being properly trained (45.6%) and the lack of easily available information on vaccination (35.0%). Three-quarters (n=212; 74%) of the GPs wanted to improve their level of medical knowledge via continuing education (52.4%) or by reading guidelines available on-line (39.6%). GPs suggested that a specific vaccination schedule be included in the letter they receive from the cancer specialist (72.8%) and that patient awareness be increased (50.5%). CONCLUSIONS: GPs are in favor of the vaccination of cancer patients. The main obstacles stated are the lack of education and the lack of easily available information. Vaccination coverage could be increased by improving the doctor-to-doctor relation between GPs and cancer specialists.

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This retrospective nationwide study sought to clarify the current status of human immunodeficiency virus (HIV)-associated lymphoma in Japan, where the number of new HIV infections remains high. We extracted data of patients with HIV-associated lymphoma who were registered in the database of the Japanese Society of Hematology Blood Disease Registry from January 2012 to December 2015, and analyzed patient characteristics, pathological diagnosis, and outcomes. The study cohort included 79 patients, including 75 male patients, with a median age of 52.5 (25-88) years. Among the lymphoma subtypes reported, the most common was diffuse large B cell lymphoma (DLBCL), followed by Burkitt lymphoma and primary central nervous system lymphoma. Estimated 3-year overall survival (OS) of all types of HIV-associated lymphoma was 68.8% [95% CI 68.2-69.4%]. However, the rate of extranodal involvement at the time of diagnosis was 49.2% and half of DLBCL was international prognostic index high or high-intermediate, with poor prognosis. Patients with primary effusion lymphoma died within 6 months. Even in an era of combination antiretroviral therapy, HIV-associated lymphoma remains an important problem. Clinical manifestations identified in this study were aggressive, and outcomes remained poor, warranting continuous surveillance of HIV-associated lymphoma.

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We explored the association between the HLA-II gene polymorphisms and the occurrence of leukemia. For this study, we selected 53 patients with leukemia treated at Zhongnan Hospital of Wuhan University from February 2014 to September 2015 and 46 healthy patients as the control group. We used polymerase chain reaction with sequence specific primers for DNA typing which was carried out to analyze the patients HLA-A/B gene polymorphism. We also used enzyme-linked immunosorbent assay and western blotting method to measure the protein expression of different genotypes and activity. Compared to the control group, HLA-A04, B08 gene frequencies were significantly lower than those of HLA-A04, B08 gene frequencies of the observation group; results were statistically significant (χ2=16.28, P<0.05; χ2=16.47, P<0.05). However, in the control group, the frequency of HLA-A09 gene was significantly higher than that of the observation group; there was a significant difference between the two groups (χ2=15.28, P<0.05). Through the measurement of the protein expression levels of the different genotypes in the control group and the observation group, it was found that in the observation group, HLA-A04, B08 protein contents (4.6 and 3.2 µg/l) were significantly higher than those of the control group (0.13 and 0.1 µg/l). While the control group HLA-A09 genotype protein content (3.7 µg/l) was significantly higher than that of the observation group (0.2 µg/l); there were significant differences between both (P<0.05). Therefore, there is a significant correlation between HLA-II gene polymorphism and leukemia that is higher than HLA-A04 and B08 gene frequency and can help promote the occurrence of leukemia. The higher frequency of HLA-A09 gene can help to suppress the occurrence of leukemia.

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Extracellular vesicles (EVs) are small membrane vesicles released from many different cell types by the exocytic budding of the plasma membrane in response to cellular activation or apoptosis. EVs disseminate various bioactive effectors originating from the parent cells and transfer functional RNA and protein between cells, enabling them to alter vascular function and induce biological responses involved in vascular homeostasis. Although most EVs in human blood originate from platelets, EVs are also released from leukocytes, erythrocytes, endothelial cells, smooth muscle cells, and cancer cells. EVs were initially thought to be small particles with procoagulant activity; however, they can also evoke cellular responses in the immediate microenvironments and transport microRNAs (miRNA) into target cells. In this review, we summarize the recent literature relevant to EVs, including a growing list of clinical disorders that are associated with elevated EV levels. These studies suggest that EVs play roles in various blood diseases.

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OBJECTIVE:To provide reference for the formulation of correct antifungal treatment strategy,and to promote stan-dard use of antifungal agent. METHODS:A retrospective survey was conducted for 138 haematologic patients from May 2013 to May 2014 in a third grade class A hospital,of whom all had used antifungal drugs during hospitalization. We collected all patients' information and analyzed it statistically. RESULTS:Of 138 haematologic patients,3 were proven IFD (all were Candida infec-tion),6 were probable IFD,12 were possible IFD,and 117 were undefined IFD. The positive rates of fungi pathogenic detection, fungal smear,G-test,and GM-test were 15.3%,9.4%,6.4% and 23.4% respectively. 6 kinds of antifungal were used,and vori-conazole had the highest frequency,followed by fluconazole,itraconazole,amphotericin B,caspofungin and micafungin. 62.3%patients used only one kind of antifungal,but 15.9% patients used 2 or more kinds of antifungal. The average medication course was 20.5 days(1 day to 125 days). Irrational drug use showed improper drug selection,unreasonable dose,and replacing antifun-gal with insufficient basis. CONCLUSIONS:The antifungal use in haematologic patients in the hospital is consistent with the re-quirements of guidelines,but there are still some issues as insufficient antifurgal drug treatment course to be further standardized.