Use of Mindray MC-80 digital morphology analyzer’s estimated platelet counts as adjunct to automated hematology analyzer

Introduction: Automated hematology analyzer platelet counts can be performed using either the impedance (PLT-I) method or the fluorescent nucleic acid staining (PLT-O) method. Estimated platelet counts (PLT-E) can be calculated using a digital morphology analyzer by evaluating the peripheral blood smear. Our objective was to compare the platelet values detected on a Mindray BC-6200 device to the PLT-E count on a Mindray MC-80 digital morphology analyzer. Material and methods: Complete blood cell count findings between 1 September and 11 October, 2022 were obtained from the data storage units of the devices. We selected two groups of blood: a first group with thrombocytopenia (n = 49) and a second group that gave an aggregation and/or platelet clumping flag (n = 32). The results of 190 consecutive patients with normal platelet counts, and no aggregation flag, were evaluated as a control group. Pearson’s correlation coefficients, Bland-Altman plots, and paired t-tests were calculated. Results: The plot of the difference between PLT-I and PLT-O counts showed that the mean difference was –43.6 (95%: –17.2 to –69.9); when we compared PLT-O to PLT-E, bias was improved to –6.1 (95%: –18.26 to 6.1) in samples with aggregation and/or clumping flags (Bland-Altman plots). In samples with thrombocytopenia without aggregation and/or clumping, on the Bland-Altman plot, the differences in means were all close to zero, and there were no definite biases. Conclusions: Examining blood samples using the Mindray MC-80 digital morphology analyzer system on samples that show platelet clumps has the potential to improve PLT-I results in day-to-day laboratory routine

A Newborn with Congenital Mixed Phenotype Acute Leukemia After In Vitro Fertilization

Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested

A genomic snapshot of demographic and cultural dynamism in Upper Mesopotamia during the Neolithic Transition

Upper Mesopotamia played a key role in the Neolithic Transition in Southwest Asia through marked innovations in symbolism, technology, and foodways. We present thirteen ancient genomes (c.8500-7500 calBCE) from Pre-Pottery Neolithic Çayönü in the Tigris basin together with bioarchaeological and material culture data. Our findings reveal that Çayönü was a genetically diverse population, carrying a mixed ancestry from western and eastern Fertile Crescent, and that the community received immigrants. Our results further suggest that the community was organised along biological family lines. We document bodily interventions such as head-shaping and cauterization among the individuals examined, reflecting Çayönü's cultural ingenuity. Finally, we identify Upper Mesopotamia as the likely source of eastern gene flow into Neolithic Anatolia, in line with material culture evidence. We hypothesise that Upper Mesopotamia's cultural dynamism during the Neolithic Transition was the product not only of its fertile lands but also of its interregional demographic connections

Demographic, clinic, and genetic characteristics in 149 children diagnosed with familial mediterranean fever

Familial Mediterranean fever (FMF) is a hereditary disease characterized by recurrent attacks of fever, peritonitis, pleuritis and/or synovitis. In this study, we retrospec-tively evaluated demographic, clinical findings, and genetic features in 149 children (63 male/86 female) with FMF. The mean age of the patients at the time of diagnosis was 6.44 ± 3.21 years. A positive family history for FMF was present in 26%, and 8% of the patients had consanguinity between the parents. The frequency of family history of FMF was found to be higher in patients diagnosed under 10 years of age (p=0.038). Frequencies of the most frequent symptoms observed in cases during ep-isodes were abdominal pain (95%), fever (68%), and arthralgia/arthritis (23%). Genetic analysis revealed that 16% of the patients had homozygous mutations, 32% had heterozygous mutations, and 38% had compound heterozygous mutations, while no mutations were detected in 21 (14%). There were mutant genes in 218 alleles, the most frequently observed were R202Q (48%), M694V (24%), and E148Q (17%). Patients with non-R202Q compound heterozygous mutation had higher frequency of high fever, CRP (C-reactive protein) levels, and fibrinogen levels during the episodes (p=0.006, p=0.001, and p=0.042, respectively). Thus, our study showed that R202Q mutation appeared to have no significant disease-causing and clinical effects, while mutations at exon 10 were associated with increased severity of symptoms as well as elevated levels of acute phase reactants. Further studies with larger FMF populations may shed more light on the role of these mutations in the pathogenesis of FMF

The Effect of Self-infusion and Patient Education on Treatment Compliance in Hemophilia Patients

Amaç: Hastaların belirlenen tedavi rejimlerine uyum sorunları hemofili tedavisinde güncel bir konudur. Bu sorunlar çok yaygın olarak bildirilmektedir. Biz de hemofili hastalarında selfinfüzyon ve hasta eğitiminin tedavi uyumu üzerine etkisini araştırmayı amaçladık. Yöntem: Hemofili Federasyonu’nun 2019 yılındaki Gençlik Çalıştayı’na katılan Hemofili ve von Willebrand (vWH) hastalarına elektronik posta yoluyla Hemofili Federasyonu tarafından geliştirilen anket gönderildi. on beş gün içinde hastaların anketi yanıtlanması istendi ve anket verileri uygun istatistiksel yöntemlerle değerlendirildi. Bulgular: Yetmiş dört ağır hemofili A, 20 ağır hemofili B, 3 vWH tanılı toplam 97 hastaya anket uygulandı. Hastalar Türkiye’nin 6 farklı bölgesinden çalışmaya katılmıştı. Sekiz hasta orta öğrenimi tamamlayamamıştı. Altmışı orta öğrenimi tamamlamış veya devam etmekteydi, 29’u ise yüksek öğrenim mezunuydu. Altmış dört hasta tedaviye uyumlu, 33 hasta da tedaviye uyumsuzdu, tedaviye uyum oranı %66 idi. Hastaların eğitim durumu ve tedavi uyumu karşılaştırıldığında anlamlı ilişki saptanmadı (p=0,516). Tedaviye uyumlu hastaların yaş ortalaması 21,5, uyumsuz hastaların 20.6 olarak bulundu (p=0,015). Tedavi uyumu ile self-infüzyon uygulayabilme, self-infüzyonu öğrenme kaynağı ve internet kullanım süresi arasından istatistiksel anlamlı ilişki yoktu. Sonuç: Hemofili gibi kronik hastalıkların takip ve tedavisindeki başarı, hekimler ve diğer sağlık personelinin eğitiminin yanı sıra hasta ve hasta yakınlarının da eğitimi ile artmaktadır.Objective: Problematic compliance to treatment regimens is a current issue in the treatment of hemophilia. These problems have been widely reported. We aimed to investigate the effect of self-infusion and patient education on treatment compliance in hemophilia patients. Method: A questionnaire developed by Hemophilia Federation was sent to Hemophilia and von Willebrand (vWH) patients who participated in the Workshop of Hemophilia Federation in 2019. Within fifteen days, patients were asked to answer the questionnaires, and survey data were evaluated by appropriate statistical methods. Results: Patients with diagnosis of severe hemophilia A (n=74), severe hemophilia B (n=20) and vWH (n=3) were included in the survey study. Patients were participated from six different regions of Turkey. Eight patients could not complete secondary education. Sixty patients completed or continued their secondary education. 29 of them were graduated from a university. Sixty-four patients were complaint and 33 patients noncomplaint to the treatment. the treatment compliance rate was 66%. No significant relationship was found between the educational status and treatment compliance of the patients (p=0.516). the median ages of treatment-compliant, and noncompliant patients were 21.5, and 20.6 years, respectively (p=0.015). There was no statistically significant relationship between treatment compliance and selfinfusion, self-infusion learning source and longevity of internet usage. Conclusion: the success in the follow-up and treatment of chronic diseases such as hemophilia is enhanced by the training of the physicians and other health personnel, as well as the education level of patients and their relatives

Indolent systemic mastocytosis in a child: A rare and difficult diagnosis

Mastocytosis is a sporadic disease characterized by an abnormal accumulation of mast cells (MCs) in single or multiple organs. A 5-year-old girl who was diagnosed as cutaneous mastocytosis by our Dermatology Department when she was 4 months of age was admitted to our Pediatric Hematology Department by hepatosplenomegaly. Diagnosis of systemic mastocytosis (SM) was verified by one major and one minor WHO criteria: presence of multifocal, dense aggregates of MCs in bone marrow (major criteria) and confirmed by expression of CD2, CD25, and CD117 in bone marrow (minor criteria). During follow-up, systemic anaphylaxis was determined and treated for 3 times. We here present the first report of use of interferon-α-2a, methylprednisolone, and montelukast in life-threatening SM to achieve remission, suggesting a new option for treatment of SM in childhood

Low-dose immune tolerance induction for paediatric haemophilia patients with factor VIII inhibitors

The development of an inhibitor against factor VIII (FVIII) is a serious complication in children with haemophilia A. Immune tolerance induction (ITI) therapy is generally considered to be the best approach to eradicate the inhibitor. In this paper, the low-dose (<= 50 IU kg(-1) twice or three times weekly with plasma-derived factor concentrates) ITI regimen used in Turkey is discussed. This regimen was given to 21 haemophilia A patients with high titer inhibitors. The median age at the beginning of ITI was 9 years and exposure days were 25. The median pre-ITI historical peak inhibitor titer, and inhibitor titer when ITI started were 80 BU (range 6.0-517), 19.2 BU (range 3.6-515), respectively. Complete immune tolerance was defined as the time at which at least two negative inhibitor assays was obtained with no anamnestic response. Our two cases were not reached in follow-up period. Immune tolerance could be achieved in 5 of 19 (26.3%) patients within a median time of 6 months. Partial tolerance was obtained in 7 patients while treatment failed in spite of significant decreased inhibitor levels in the other patients. A relapse developed in one immune-tolerized patient, one year later. The level of inhibitor titer at the beginning of ITI (<= 10 BU), the pre-ITI historical peak inhibitor titer (< 50 BU), and the time between the first diagnosis inhibitor to starting ITI (< 12 months) were main factors in the success (complete or partial tolerance) of ITI. In conclusion, the outcome of low-dose ITI protocol was not satisfactory in this retrospective study