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Objective: Hemophilia A (HA) is a hereditary X-linked bleeding disorder secondary to deficiency of the clotting factor VIII (FVIII). Emicizumab is a monoclonal antibody that replaces the function of the activated FVIII and prevents bleeding in HA patients. Emicizumab is expected to ameliorate bleeding risk in those patients together with subsequent complications. However, there is a scarcity of data about its safety and efficacy in patients with HA. We aimed to evaluate the safety and efficacy of emicizumab prophylaxis in Egyptian pediatric patients with HA. Materials and Methods: A prospective cohort study was carried out with 88 HA patients who received emicizumab prophylaxis. Breakthrough bleeding episodes and the annualized bleeding rate (ABR) were reported for all patients before and after emicizumab prophylaxis. Also, all adverse events during prophylaxis were documented to evaluate the safety of emicizumab. Results: Joint bleeds occurred in 94% of the patients. Among those patients, 58% had one target joint, 36.4% had more than one target joint, and 5.6% had no target joints. Furthermore, 17% of patients were positive for FVIII inhibitors. The median annualized joint bleeding rate was reduced remarkably after emicizumab prophylaxis (36 before versus 0 after emicizumab). The median ABR was 48 before emicizumab versus 0 after emicizumab. Eight patients experienced mild breakthrough bleeding episodes. The most common adverse events were local reactions at injection sites, headache, arthralgia, fever, and diarrhea. Conclusion: Prophylaxis using emicizumab was associated with a significantly lower bleeding rate in HA patients with and without inhibitors. The majority of patients had zero bleeds with emicizumab prophylaxis. [ABSTRACT FROM AUTHOR]

Background: Numerous rare congenital bleeding disorders include fibrinogen and prothrombin deficiency as well as factor (V, VII, VIII, XI, X, and XIII) deficiency. In the general population, the severe variants of these illnesses are hereditary and possess a frequency that falls somewhere between one in every two million for factor XIII and one in per half a million for factor VII. Patients who have rare congenital bleeding disorders may exhibit a broad range of symptoms, from relatively mild subcutaneous bleeding to potentially life-threatening hemorrhages for example in the central nervous system. The majority of treatment for these disorders when specific plasma-derived or recombinant products are available is to replace the missing factor. Diagnosing and treating rare congenital bleeding disorders can be challenging due to the wide variety of symptoms they manifest in patients. Patients with rare inherited bleeding diseases must be closely monitored at specialized hemophilia treatment centers once they are diagnosed, due to the unique difficulty of their therapy. More research is required to improve the worldwide care for individuals with rare inherited bleeding diseases, despite the fact that a lot has been learned about their frequency, symptoms, and genetic characteristics in the past ten years. We aimed at this review to give a brief overview about Inherited Bleeding Disorders. [ABSTRACT FROM AUTHOR]

Background: Patients with chronic immune thrombocytopenia (cITP) have troubles with their immune system. Nevertheless, the exact role of the immune checkpoint pathway in the development of cITP remains unknown. We aimedto investigate the impact of programmed death-1 (PD-1, PDCD1) SNPs (rs1386349 and rs2227982) on the susceptibility and clinical features of cITP. Methods: Thirty cITP pediatric patients and thirty sex and agematched healthy children were included as a control group. Routine laboratory investigations were done at the Clinical Pathology Department, Faculty of Medicine, Zagazig University, and detecting PDCD1 polymorphisms using a polymerase chain reaction (PCR)- restriction fragment length polymorphism (RFLP) system. Results: Regarding SNP (rs2227982), 80.0% of the cases group had genotype CC, 20.0% had genotype CT, and no one had genotype TT. 90.0% of the control group had genotype CC, 10.0% had genotype CT, and no one had genotype TT, 90.0% of the cases group had Allele C, and 10.0% had Allele T, 95.0% of the control group had Allele C, 5.0% had Allele T, according to SNP (rs1386349), 83.3% of the cases group had genotype CC, 13.3% had genotype CT, and 3.3% had genotype TT, 86.7% of the control group had genotype CC, 13.3% had genotype CT, and no one had genotype TT, 90.0% of the cases group had Allele C, and 10.0% had Allele T, 93.3% of the cases in the control group had Allele C, and 6.7% had Allele T. Conclusions The Pd1 gene polymorphisms (rs1386349 and rs2227982) do not affect susceptibility or clinical features among cITP patients. [ABSTRACT FROM AUTHOR]

Background: Ophthalmic complications in pediatric acute lymphoblastic leukemia (ALL) have become serious and recognition of ocular manifestations of leukemia is fundamental. In this study, we aimed to detect radiological findings among ALL patients. Methods: This cross-sectional study was conducted in Pediatric Oncology Unit and Ophthalmology Department; Faculty of Medicine; Zagazig University with a total of 45 patients diagnosed with ALL (18 patients were denovo ALL, 14 patients were receiving treatment of leukemia and 13 patients finished their treatment protocol and were on follow up schedule). Detailed radiological work up was done including MRI of brain and both orbits, fundus photography, fluorescein angiography (FA), optical coherence tomography (OCT) and orbital CT. Results: Ocular manifestations were detected in 35.6% of ALL patients by ophthalmic examinations. 44.4% of ALL patients had abnormal brain MRI and most commonly, ischemic changes, post-radiation leukomalacia and CNS infiltration were detected. Twenty-two percent of the studied cases reported abnormal orbital MRI and most common abnormalities were sutural metastasis and optic nerve affection. Fundus photographs were done for selected patients. Optic nerve head leukemic infiltration, choroidal, retinal and vitreal infiltration were detected (4.44%). Moreover, CMV retinitis was detected in one patient. Conclusions: Several ocular abnormalities are present in pediatric ALL and the most common are retinal lesions. Knowledge about ocular problems in children with ALL could be beneficial to reduce morbidity and mortality. [ABSTRACT FROM AUTHOR]

We aimed to investigate the role of urinary kidney injury molecule-1 (KIM-1) in detection of subclinical nephrotoxicity in patients with Beta-thalassemia (β-TM) in relation to chelation therapy and to correlate the urinary KIM-1 level with other clinical and laboratory findings. We conducted a cross-sectional study on 66 thalassemic patients. Their ages range from 7 to 22 years. Routine kidney indices and novel urinary KIM/creatinine ratio (UKIM-1/Cr) were measured. Estimated glomerular filtration rate (eGFR) was calculated. Results indicate that the level of serum creatinine was significantly higher in patients on deferasirox therapy than patients on deferoxamine and deferiprone therapy [median(IQR), 0.85(0.63–0.99), 0.50(0.34–0.58) and 0.44(0.36–0.45)] mg/dL, respectively, p < 0.001]. The median(IQR) level of eGFR was significantly lower in patients on deferasirox therapy than patients on deferoxamine and deferiprone therapy [63.3(56.5–92.1), 117.3(91.9–162) and 136.7(109.4–157.6)] ml/min/1.73 m2, respectively, p < 0.001]. The mean level of UKIM-1/Cr was significantly higher in patients on deferasirox therapy than patients on deferoxamine and deferiprone therapy (7.0 ± 1.9, 4.1 ± 1.7 and 4.2 ± 1.5) ng/mg creatinine, respectively, p < 0.001). We concluded that urinary KIM-1 is an early predictive biomarker for decline in eGFR in patients with β-TM on deferasirox therapy. The appropriate chelation therapy and good monitoring of those patients are intensely needed for early detection of renal dysfunction and timely intervention. [ABSTRACT FROM AUTHOR]