Risk factors for neurologic sequelae in children and adolescents with hemophilia after intracranial hemorrhage.

Background: Intracranial hemorrhage (ICH) is reportedly rare but has high morbidity and mortality risk in persons with hemophilia. Although the risk factors that facilitate bleeding are known, the factors affecting the sequelae are not well known.

Objectives: We planned to investigate the risk factors for neurologic sequelae in children and adolescents with hemophilia suffering from ICH.

Retrospective analysis of hemophilia B in Turkey: identifying main characteristics and treatment options.

Background: Hemophilia B (HB), an X-linked recessive inherited bleeding disorder, exhibits a high prevalence among males.

Objectives: To present the first national cohort of persons with HB to define the demographics, clinical characteristics, and treatment patterns in Turkey.

Methods: This multicenter, retrospective study included 433 alive persons with HB registered in 35 centers between 1961 and 2018.

Clinical spectrum of primary hemophagocytic lymphohistiocytosis: experience of reference centers in Central and Southeast Anatolia.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease, with a high mortality if left untreated. In addition, the disease has unique diagnostic challenges. Therefore, despite the existing guidelines on management, current clinical practice data is informative on the course and outcome.

Prognostic Impact of the Tricuspid Annular Plane Systolic Excursion/Pulmonary Arterial Systolic Pressure Ratio in Acute Pulmonary Embolism.

Background: Currently available risk stratification models for acute pulmonary embolism (PE) include hemodynamic status, cardiac biomarkers, right ventricle (RV) dysfunction on imaging, and clinical scores. Focusing on the length-tension relationship of the ventricle might have a superior predictive capability over RV dysfunction in terms of mortality and classification of patients with acute PE. In this study, our hypothesis suggests that the tricuspid annular plane systolic excursion (TAPSE)/systolic pulmonary artery pressure (sPAP) ratio has superior predictive capability for in-hospital mortality in patients with acute PE compared to TAPSE or sPAP as distinct measures.

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated.

A novel method for the evaluation of right ventricular dysfunction in acute pulmonary embolism: Myocardial work indices.

Purpose: The presence of right ventricular dysfunction indicates a higher risk status in patients with pulmonary embolism (PE). The RV strain evaluated by speckle-tracking echocardiography seems to be more reliable method in the evaluation of RV dysfunction as compared to standard echocardiographic measures. In this study, we aimed to determine the value of myocardial-work indices in evaluating serial changes of RV function in acute PE.

Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?

Intellectual disability is characterized by impairment in at least two of the following areas: social skills, communication skills, self-care tasks, and academic skills. These impairments are evaluated in relation to the expected standards based on the individual's age and cultural levels. Additionally, intellectual disability is typically defined by a measurable level of intellectual functioning, represented by an intelligence quotients core of 70 or below.

Is it Time to Reappraise for Black-Box Warning on AngioJet Rheolytic Thrombectomy in Patients with Pulmonary Embolism: A Systematic Review and Meta-analysis.

Background: AngioJet rheolytic thrombectomy (ART) system has been widely used as a catheter-directed treatment (CDT) method in acute pulmonary embolism (PE), however, there has been a controversy regarding the safety of its use. In this systematic review and meta-analysis, we evaluated the efficacy and safety outcomes of ART in patients with PE.

Methods: Our meta-analysis have been based on search in the MEDLINE, EMBASE, and Cochrane Library for studies published up to August 2022.

Complete Percutaneous Retrieval of Migrated VSD Occluder Device from the Pulmonary Artery: Management of a Catastrophic Complication.

Transcatheter closure of muscular ventricular septal defects (VSD) remains a safe and effective method with low complication rates. However, device migration can pose a significant challenge to interventional cardiologists due to potential mortal consequences. A 21-year-old female presented to our clinic with exertional dyspnea and was diagnosed with a muscular VSD.

Cryopreservation of Lilium candidum germplasm: analysis of pre- and post-freeze treatments.

Background: Lilium candidum L. is a perennial ornamental plant that has various medicinal properties and is used in the cosmetic industry. The species is facing threats from urbanization and climate change and requires urgent protection.

Intravascular Ultrasound-Guided Stent Implantation in the Left Main Coronary Artery Extrinsic Compression by Pulmonary Artery Aneurysm Due to Eisenmenger Syndrome.

Pulmonary arterial hypertension (PAH) is a profoundly destructive condition marked by the gradual narrowing and restructuring of small pulmonary arteries, leading to a rise in pulmonary vascular resistance (PVR), causing right-sided heart failure and, ultimately, mortality. During more advanced stages of this disease, patients may present with rare manifestations of pulmonary artery aneurysm (PAA) which are exertional chest pain, and hoarseness. The left main coronary artery compression (LMCA-Co) has been an increasingly recognized and possibly life-threatening entity in patients with severe PAH.

Current Insights for Catheter-Directed Therapies in Acute Pulmonary Embolism: Systematic Review and Our Single-Center Experience.

In this review, the current status of the worldwide experience on different catheter-directed treatment systems utilized as alternative reperfusion methods in acute pulmonary-embolism was evaluated, and the risk stratification algorithms in which catheter-directed treatments may be implemented, source of evidence in this setting, adjudication of benefits and risks of available techniques, and innovative multidisciplinary frameworks for referral patterns and care delivery were discussed. Moreover, our perspectives on risk-based catheter-directed treatment utilization strategies in acute pulmonary embolism were summarized.

Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.

Severe combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function of lymphocytes and could be fatal if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are various diagnostic criteria for SCID among different primary immunodeficiency societies. We retrospectively evaluated clinical and laboratory findings of 59 patients followed up with the diagnosis of SCID at our clinic over the past 20 years in order to develop an algorithm that would help diagnosis of SCID for the countries where a high ratio of consanguineous marriage is present because these countries have not launched TREC assay in their newborn screening programs.

Reappraisal of the Transthoracic Echocardiographic Algorithm in Predicting Pulmonary Hypertension Redefined by Updated Pulmonary Artery Mean Pressure Threshold.

Background: Although an adopted echocardiography algorithm based on tricuspid regurgitation jet peak velocity and suggestive findings for pulmonary hypertension has been utilized in the non-invasive prediction of pulmonary hypertension probability, the reliability of this approach for the updated hemodynamic definition of pulmonary hypertension remains to be determined. In this study, for the first time, we aimed to evaluate the tricuspid regurgitation jet peak velocity and suggestive findings in predicting the probability of pulmonary hypertension as defined by mean pulmonary arterial pressure > 20 mm Hg and > 25 mm Hg, respectively.

Methods: Our study group was comprised of the retrospectively evaluated 1300 patients (age 53.

Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study.

Background: In patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients.

Procedure: Pediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Türkiye.

The effects of the Rheum ribes plant extract on inflammation, extracellular matrix remodeling, and obesity suggest a therapeutic potential.

Background: The prevalence of obesity is increasing in the world, and the Type II diabetes associated with obesity led researchers to seek alternative methods to treat these two chronic diseases. In the case of obesity and diabetes, changes occur in the levels of inflammatory mediators. A study was conducted to investigate the molecular mechanism of the Rheum ribes L.

A New Index for the Prediction of In-Hospital Mortality in Patients with Acute Pulmonary Embolism: The Modified Shock Index.

Background: Pulmonary embolism severity index, its simplified version, and shock index have been used for risk stratification in acute pulmonary embolism. In this study, we proposed a modification in severity index and evaluated the correlates and prognostic value of modification in severity index in this setting.

Methods: The study group comprised retrospectively evaluated 181 patients with acute pulmonary embolism.

The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease.

Background: Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene. We present a patient who was diagnosed with CF and later diagnosed with Niemann-Pick type-A (NPA) disease, which is an autosomal recessive lysosomal lipid storage disease.

Case: A 2-month-old Syrian refugee patient was diagnosed with CF due to a high sweat test and two homozygous CFTR-related pathogenic gene mutations in our pediatric pulmonology clinic, where she was referred due to a high immunoreactive trypsinogen (IRT) value as a result of newborn screening.

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.

Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV disease that renders immunological studies challenging. They have CD4+ αβ T lymphocytopenia with a concomitant expansion of CD4-CD8- double-negative (DN) αβ and Vδ2- γδ T lymphocytes, both displaying a unique CD38+CD45RA+T-bet+EOMES- phenotype.

An Eight-year, Single-center Experience on Ultrasound Assisted Thrombolysis with Moderate-dose, Slow-infusion Regimen in Pulmonary Embolism.

Background: There is limited data on moderate-dose with slow-infusion thrombolytic regimen by ultrasound-asssisted-thrombolysis (USAT) in patients with acute pulmonary embolism (PE).

Aims: In this study, our eight-year experience on USAT with moderate-dose, slow-infusion tissue-type plasminogen activator (t-PA) regimen in patients with PE at intermediate-high- and high-risk was presented, and short-, and long-term effectiveness and safety outcomes were evaluated.

Methods: Our study is based on the retrospective evaluation of 225 patients with PE having multiple comorbidities who underwent USAT.

Clinical, imaging and hemodynamic correlates and prognostic impact of syncope in acute pulmonary embolism: A single-center study.

Background: We aimed to determine the clinical, echocardiographic and hemodynamic correlates of syncope as a presenting symptom in pulmonary embolism and its impact on in-hospital and long-term outcomes.

Methods: Between July 2012 and October 2019, a total of 641 patients with PE (277 males, 364 females; median age: 65 years; range, 51 to 74 years) in whom the diagnostic work-up and risk-based management were performed according to the current pulmonary embolism guidelines were retrospectively analyzed. Clinical, laboratory and imaging data of the patients were obtained from hospital database system.