Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach.

In clinical practice, the consideration of non-specific symptoms of rare diseases in order to make a correct and timely diagnosis is often challenging. To support physicians, we developed a decision-support scoring system on the basis of retrospective research. Based on the literature and expert knowledge, we identified clinical features typical for Fabry disease (FD). Natural language processing (NLP) was used to evaluate patients' electronic health records (EHRs) to obtain detailed information about FD-specific patient characteristics. The NLP-determined elements, laboratory test results, and ICD-10 codes were transformed and grouped into pre-defined FD-specific clinical features that were scored in the context of their significance in the FD signs. The sum of clinical feature scores constituted the FD risk score. Then, medical records of patients with the highest FD risk score were reviewed by physicians who decided whether to refer a patient for additional tests or not. One patient who obtained a high-FD risk score was referred for DBS assay and confirmed to have FD. The presented NLP-based, decision-support scoring system achieved AUC of 0.998, which demonstrates that the applied approach enables for accurate identification of FD-suspected patients, with a high discrimination power.

Therapy results in pediatric Hodgkin lymphoma - does less mean better? Experience from a single children's oncology center.

Therapy results in pediatric Hodgkin lymphoma reflect remarkable progress in pediatric oncology. In the last decade, relevant development of new therapeutic options for children with refractory or relapsed disease has been made. In this study, we retrospectively analyzed therapy results and risk factors in children treated in a single oncology center according to five therapeutic protocols. Data from 114 children treated by a single institution between 1997 and 2022 were analyzed. Classic Hodgkin lymphoma therapy results were divided into four therapeutic periods: 1997-2009, 2009-2014, 2014-2019, and 2019-2022. For nodular lymphocyte-predominant Hodgkin lymphoma, data from one therapeutic protocol was analyzed. For the entire group, the 5-year probability of overall survival was 93.5%. There were no statistically significant differences between therapeutic periods. The occurrence of B symptoms at diagnosis and incidence of relapse were risk factors for death (p = 0.018 and p < 0.001). Relapse occurred in 5 cases. The 5-year probability of relapse-free survival for the entire group was 95.2%, without significant differences between groups. Patients treated between 1997 and 2009 had over a sixfold higher risk for events, defined as primary progression, relapse, death, or incidence of secondary malignancies (OR = 6.25, p = 0.086). The 5-year probability of event-free survival for all patients was 91.3%. Five patients died, and the most common cause of death was relapse. Modern therapeutic protocols in pediatric Hodgkin lymphoma are marked by excellent outcomes. Patients with disease relapses have a notably high risk of death, and the development of new therapeutic options for this group remains one of the main goals of current trials.

Improved Outcome in Pediatric Acute Myeloid Leukemia: Progress With Hematopoietic Cell Transplantation.

BACKGROUND/AIM: Pediatric acute myeloid leukemia (AML) is a heterogenous disease; however, development of diagnostic methods has led to a better understanding of its nature and improvement in therapy outcomes. In this study, we evaluated treatment results in children with AML treated in a single oncology center in comparison with international results. PATIENTS AND METHODS: Data from 77 children with AML treated in a single oncology center between 1994 and 2020 were analyzed. Patients had been treated according to five consecutive therapy protocols: AML NOPHO 88; ANLL 98; BFM AML 2004; BFM AML 2012, and BFM AML 2019. Five-year overall survival (OS), 5-year event-free survival (EFS) and 5-year relapse-free survival (RFS) were evaluated for each therapy protocol to determine prognostic factors and clarify differences between international and individual center results. RESULTS: During the observational period, 5-year OS increased from 55.6% to 85.7%, 5-year EFS from 45.7% to 87.5% and 5-year RFS from 51.4% to 85.7%. Hematopoietic cells transplantation (HCT) introduction in early 2000' improved treatment outcomes in the high-risk group, what has been mostly seen in the results of 5-year EFS. Treatment-related mortality was the most frequent cause of death in the analyzed group. CONCLUSION: Despite the significant improvement in therapy of pediatric AML, treatment outcomes remain unsatisfying. Introduction of HCT relevantly improved therapy results, especially in the high-risk group. International cooperation is crucial because of the small patient numbers in individual oncology centers.

Neonatal brain and body imaging in the MR-compatible incubator.

BACKGROUND: The use of a specialized MR-compatible incubator (INC) is very poorly described in the literature and only with regard to brain imaging. OBJECTIVES: To present our own experience with brain and body magnetic resonance imaging (MRI) in the INC in a large cohort of neonates. MATERIAL AND METHODS: A total of 555 examinations were performed in 530 newborns with the use of a 1.5T system and Nomag IC 1.5 incubator, equipped with head and body coils. RESULTS: More than half of neonates (54%) were prematurely born at 22 + 6-36 + 6 gestational weeks. They were examined from the first to 153 days of life (median: 18.5, mean: 37.7) with body weights 600-5000 g (mean: 3051 g), 23% of less than 2500 g. The proportion of brain MRIs to other body regions was 533:85 = 86%:14%. In 36.6% of cases, MRI showed more abnormalities than ultrasound (USG), in a further 21.8%, MRI diagnosis was completely different, in 4.7%, a pathology described on a USG was ruled out on MRI. The superiority of MRI over USG was 63.1%. CONCLUSIONS: MR-compatible incubator significantly increased the availability of MRI to newborns, especially to premature and unstable newborns. The integration of body coils into the INC increased the spectrum of examinations and made possible the scanning not only of the brain but also the body. Dedicated neonatal coils improved image quality and allowed more accurate diagnosis than the previously used adult coils. Immobilization of the babies in the INC by means of Velcro belts and head fixation inserts is better than in adult coils. The closed space of the INC isolates newborns to a greater extent from the negative influence of noise in the MR environment.

Management of thrombotic thrombocytopenic purpura without plasma exchange: the Jehovah's Witness experience.

TTP in Jehovah's Witness patients has been managed successfully without PEX.This experience, plus new TTP treatments, may make it possible for patients who are not Jehovah's Witnesses to avoid PEX in the future.

Magnetic resonance imaging of neonates in the magnetic resonance compatible incubator.

INTRODUCTION: The authors present the first experience in neonatal magnetic resonance imaging (MRI) examinations using an MR compatible incubator (INC) at the Institute of Mother and Child. MATERIAL AND METHODS: Forty-nine examinations of 47 newborns (20 girls, 27 boys) were performed using the GE Signa HDxt 1.5T system and INC Nomag IC 1.5. Demographic data, anesthetic methods and MRI findings in the INC in comparison with previously performed imaging were analyzed. RESULTS: Thirty-two neonates were prematurely born (68.1%) at gestational age 23-37 weeks, mean: 29.9 weeks. They were examined at 26 weeks postmenstrual age to 1 month corrected age, mean: 37.5 weeks. Body weight of newborns on the study day was 600-4300 g, mean: 2724 g. Seventeen (34.7%) children were examined in physiological sleep, 32 (65.3%) anesthetized. In none of them did anesthesiological complications or disease worsening occur. In 43 (91.5%) children brain MRI was performed, in 4 (8.5%) MRI of the spinal cord and canal and of the abdomen/pelvis. In children prenatally examined by MRI, the INC provided new diagnostic information in 5 (83.3%) cases, in neonates studied after birth by ultrasound in 32 (82%). Magnetic resonance imaging in the INC did not entail additional knowledge in 9 (18.7%) cases. CONCLUSIONS: The INC enables MRI in preterm newborns and those with low/extremely low body weight. These studies are necessary to assess the extent of changes in the central nervous system and other organs. Incubator coils, designed specifically for neonates, allow more accurate diagnosis than previously used coils for adults. MRI results allow one to determine prognosis, for more accurate planning of diagnostics, helping to make appropriate therapeutic decisions.

[Inguinal hernia in preterm infants - therapeutic problem for neonatologist, anaesthesiologist and paediatric surgeon]. / Przepuklina pachwinowa u przedwczesnie urodzonego noworodka- wspólny problem leczniczy dla neonatologa, anestezjologa i chirurga.

UNLABELLED: Inguinal hernia in preterm infants is a difficult therapeutic problem because of the risk of anaesthesia and the immaturity of the baby. Despite of high risk of perioperative complications surgical repair of the hernia should be considered before discharge. AIM: evaluation of the perioperative problems in the preterm infants with inguinal hernia. MATERIAL AND METHODS: evaluation was performed in 21 preterm infants (gestational age 23-36 weeks, birth weight 450-1370 g) operated because of inguinal hernia between 2002-2007. Various problems related to prematurity were confirmed in all patients. Incarcerated hernia were operated on in 5 patients, in 16 neonates hernia repair was performed as elective surgery. In two of them, few weeks after unilateral hernia repair, operation on the other side was performed because of incarceration. Nine infants were qualified for general anaesthesia, fourteen for spinal anaesthesia. Indications for surgical treatment, method of anaesthesia and early postoperative results were analysed with reference to various problems connected with prematurity such as intraventricular haemorrhage and chronic lung disease. RESULTS: inclusively 23 operations were performed in 21 infants (gestational age 36-47 weeks, weight 1130 -2750 g). Four of fourteen infants preliminary qualified for spinal anaesthesia turned into general anaesthesia. There were not any problems during the operations. Two patients required short ventilatory support (both with general anaesthesia because of incarcerated hernia). During a follow up examination recurrence of the hernia was not observed in any of the patients. CONCLUSION: despite of high risk of perioperative complications in preterm infants, surgical repair of the inguinal hernia should be considered before discharge. Spinal anaesthesia is a safe alternative for general anaesthesia in preterm infants especially for infants with chronic lung disease.