Bleeding disorders are causes of great concern and panic for parents and primary care providers. Lack of knowledge and awareness on appropriate screening tests and factor product preparation contributed to potential diagnostic delays, increased complications, and economic costs. This study aimed to determine and compare the approach of primary care physicians (including general practitioners) and emergency physicians with a questionnaire including simulation-based cases on hemophilia. This simulation and two-stage questionnaire study was conducted with 244 participants. Before–after questionnaires, two case simulations, a brief presentation, and statistical analysis were performed. Participants mostly preferred tests, such as prothrombin time (PT) or partial thromboplastin time (PTT) to bleeding time for primary hemostasis (PT/PTT n: 192, 84.2%, bleeding time n: 94, 41.2%). Similar results were found for secondary hemostasis (bleeding time n: 144, 63.4%). There was a lack of knowledge in the management of simulation-based cases of acute hemorrhagic complications and factor product preparation (complication case: correct n: 100, 55.2%; initial doses correct n: 56, 43.4%, factor preparing correct n: 37, 49.3%, factor admission correct n: 36, 24.3%). All changed significantly, after the presentation (P = 0.000). Our study shows that there is probably a lack of knowledge of diagnostic investigations and appropriate factor product preparation with possible consequences for patients and economics.

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Background. Congenital fibrinogen deficiency is one of the rare inherited coagulation disorders. Congenital fibrinogen deficiency complicated with a hematological malignancy can be life threatening. Case. We present a four-year-old girl with congenital fibrinogen deficiency complicated with acute lymphoblastic leukemia. Conclusion. This case aims to highlight therapeutic approaches for the management of afibrinogenemia patients with acute leukemia.

The cytoskeleton is a dynamic filamentous network with various cellular and developmental functions. The loss of cytosolic carboxypeptidase 1 (CCP1) causes neuronal death. Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA, OMIM no.: 618276) is an extremely rare disease caused by ATP/GTP binding protein 1 (AGTPBP1) gene-related CCP1 dysfunction of microtubules affecting the cerebellum, spinal motor neurons, and peripheral nerves. Also, possible problems are expected in tissues where the cytoskeleton plays a dynamic role, such as cardiomyocytes. In the present study, we report a novel homozygous missense (NM_015239: c.2447A > C, p. Gln816Pro) variant in the AGTPBP1 gene that c.2447A > C variant has never been reported in a homozygous state in the Genome Aggregation (gnomAD; v2.1.1) database, identified by whole-exome sequencing in a patient with a seizure, dystonia, dilated cardiomyopathy (DCM)-accompanying atrophy of caudate nuclei, putamen, and cerebellum. Unlike other cases in the literature, we expand the phenotype associated with AGTPBP1 variants to include dysmorphic features, idiopathic DCM which could be reversed with supportive treatments, seizure patterns, and radiological findings. These findings expanded the spectrum of the AGTPBP1 gene mutations and associated possible manifestations. Our study may help establish appropriate genetic counseling and prenatal diagnosis for undiagnosed neurodegenerative patients.