SYMPTOMS OF COW MILK PROTEIN ALLERGY IN CHILDREN – A RETROSPECTIVE STUDY

Introduction. Recent meta-analyses of population-based studies show considerable heterogeneity in the prevalence of perceived and confi rmed allergic reactions, as well as sensitization to cow milk ingestion. Adverse reactions to cow milk ingestion have different prevalence patterns in different age groups. There is increasing public concern about the true prevalence and a possible increase of food allergies over time, particularly among parents, child care and school staff, health care providers, regulators and food producers. Materials and methods. We performed a retrospective study of children admitted in IOMC hospital in Bucharest between January 2011 to May 2013. The primary aim of this study was to establish and compare the prevalence of confi rmed allergic reactions to food in young children from IOMC hospital to known symptoms established by different researches. Results. 312 patients were evaluated with IgE panel blood test, 64 were IgE positive to cow milk protein fraction. Discussion. We found that symptoms of adverse reactions to milk are common in infants and occur regardless of GA at birth or sex. As expected, we found that more children with CMA where living in urban than rural areas. The symptoms often appear during the fi rst year of life, even in exclusively breastfed children. Important signs and symptoms to alarm CMA were found to be failure to thrive, anemia, gastrointestinal and respiratory complains

EXTREME CEREBRAL MALFORMATION – CLINICAL AND ETHICAL ISSUES BASED ON A CASE

Hydranencephaly represents one of the most rare cerebral malformations, with poor prognosis and negative impact on both family and society. Usually the patients remain in a permanent vegetative state and require unlimited medical care. Although the majority of affected babies die in utero or in the fi rst days-months of life there have been cases in literature with prolonged survival, for 20 (1), 22 (2) and 32 (3) years. Therapeutically, the medical care provided are purely palliative and oriented to supporting vital function. Conclusions. Hydranencephaly is a rare brain malformation with poor prognosis, life expectancy and quality of life. Diagnosis imposes a number of ethical issues. The importance resides in the fact that prenatal detection represents an indication for therapeutic abortion. Another ethical issue raised is represented by medical care provided, which is exclusively palliative. Both surgical and novel therapeutic methods described by the literature, like endoscopic coagulation of choroid plexes, do not infl uence the neurological status and the neuropsychomotordevelopment (4). All this data should be clearly explained to parents and legal tutors for not raising any false hopes regarding the evolution

Prenatal Genetic Counseling in Congenital Anomalies

The impact of genetic variability on embryogenesis and fetus development established medical genetics as essential for the prevention of congenital anomalies, early detection and appropriate management. Advances in ultrasonography equipment and technique allow early detection of many congenital malformations. In addition, genetic testing can be performed in a prenatal setting on a variety of biological samples obtained by invasive and noninvasive procedures: chorionic villus sampling, amniocentesis, cordocentesis, or maternal blood collection (i.e., cell free fetal DNA). In the past, only a small percentage of congenital anomalies had a readily identifiable etiology; genetic diagnostic procedures can provide at least some of the answers for the remaining unsolved cases. Undoubtedly, the need for appropriate case management and counseling justifies the importance of uncovering the underlying genetic cause of birth defects. In this chapter, we will focus on genetic counseling in congenital anomalies, including isolated congenital anomalies and preimplantation genetic diagnosis. Genetic counseling provides information and support, assisting parents in making informed decisions. Through this process, parents learn about the risk of having a newborn with a congenital malformation and the nature of the disorder and its natural history, are advised on available testing for that particular case, and discuss options for risk management and family planning

The prevalence and risk factors for visceral hemangiomas in children with infantile cutaneous hemangiomas

One of the most frequent benign tumor pathology in children is represented by infantile hemangiomas (IHs). Although they are mostly cutaneous, sometimes they can develop at visceral level, the liver being the most common localization. Objectives. Estimating visceral hemangiomas (VHs) prevalence, and identification of risk factors for VHs in patients with infantile cutaneous hemangiomas (ICHs). Materials and methods. 6 years cross-sectional study (2012-2017) including children diagnosed with ICHs, admitted in I.N.S.M.C “Alfred-Rusescu“. All patients underwent an ultrasound screening for the detection of VHs. In order to identify possible risk factors, we collected demographic and perinatal data. Outcomes. 138 patients diagnosed with infantile cutaneous hemangiomas (ICHs) were included, with a slight predominance of girls (58%). The prevalence of the VHs in our study was 7,24% (10 patients). The liver was the most common visceral localization (7 patients). Conclusions. Female gender, preterm birth, low birth weight, and multiple gestations were described as potential risk factors for IHs. In our study, only multiple gestations tend to be associated with visceral hemangiomas, but without a significant statistical correlation

Fingertip rapid point-of-care test in adult case-finding in coeliac disease

Background Coeliac disease (CD), due to its protean clinical manifestation, is still very under diagnosed in adults and delays in diagnosis may take years and even decades. Simple tools to find cases in primary care may help to identify patients for further diagnostic tests. We have evaluated the usefulness of an on site rapid fingertip whole blood point-of-care test (POCT) for such a purpose. Methods As CD is known to run within families, we tested 148 healthy relatives of 70 Romanian index cases with biopsy-proven CD (87% of all first-degree family members, median age 36 years) for the presence of circulating autoantibodies. In addition to performing the POCT (which measures blood erythrocyte self-TG2-autoantibody complexes) on site, blood was drawn for later evaluations of serum IgA-class endomysial antibodies (EMA). EMA-positive sera were further tested for transglutaminase 2 antibodies (TG2-IgA). All serological parameters were analyzed blindly in a centralized laboratory that had no knowledge of the on site POCT result. Endoscopic small intestinal biopsies was recommended for all POCT- or EMA-test positive subjects. Results In on site testing the POCT was positive in 12/148 first-degree relatives (8%) and all these subjects were also serum EMA-positive. A positive EMA test was found only in one other subject. All remaining 135 healthy first-degree relatives were negative for both POCT and EMA. Four subjects positive for both POCT and EMA were negative for TG2-IgA. Ten out of thirteen of the antibody-positive subjects agreed to undergo endoscopy. The POCT was found to be positive in 8/9 first-degree relatives having coeliac-type mucosal lesions of grade Marsh 2 (n = 3) or Marsh 3 (n = 6). The three POCT-positive subjects not agreeing to undergo endoscopy were also both EMA- and TG2-IgA-positive. Conclusion The fingertip whole blood rapid POCT might fulfill the unmet need for a simple and cheap case-finding biomarker for early detection and presumptive diagnosis of CD. Confirmatory studies are warranted in adult case-finding in specialized outpatient clinics and in primary care.BioMed Central open acces

Overview of the Side-Effects of FDA- and/or EMA-Approved Targeted Therapies for the Treatment of Hematological Malignancies.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadIn the last decade there has been tremendous effort in offering better therapeutic management strategies to patients with hematologic malignancies. These efforts have ranged from biological to clinical approaches and resulted in the rapid development of new approaches. The main "problem" that comes with the high influx of newly approved drugs, which not only influences hematologists that frequently work with these drugs but also affects other healthcare professionals that work with hematologists in patient management, including intensive care unit (ICU) physicians, is they have to keep up within their specialty and, in addition, with the side-effects that can occur when encountering hematology-specific therapies. Nonetheless, there are few people that have an in-depth understanding of a specialty outside theirs. Thus, this manuscript offers an overview of the most common side-effects caused by therapies used in hematology nowadays, or that are currently being investigated in clinical trials, with the purpose to serve as an aid to other specialties. Nevertheless, because of the high amount of information on this subject, each chapter will offer an overview of the side-effects of a drug class with each reference of the section being intended as further reading. Keywords: hematological malignancies; life-threatening side-effects; novel therapies.MDPI A

Design and preclinical testing of an anti-CD41 CAR T cell for the treatment of acute megakaryoblastic leukaemia

Funding Information: Adrian Bogdan Tigu and Catalin Constantinescu contributed equally to the current manuscript. Catalin Constantinescu is funded by an internal grant of the Iuliu Hatieganu University – School of Doctoral Studies. David Kegyes is funded by an internal grant of the Iuliu Hatieganu University – School of Medicine. Mareike Peters is funded by a national grant of the Romanian Society for Bone Marrow Transplantation. Ciprian Tomuleasa is also supported by a grant awarded by the Romanian National Ministry of Research, Innovation and Digitalization: PN‐III‐P4‐ID‐PCE‐2020‐1118 within PNCDI IV, Projects for Exploratory Medicine; Projects for Exploratory Medicine—PCE 225/2021; as well as a national grant awarded to Young Research Teams (PN‐III‐PI‐1.1‐TE‐2019‐0271 –‘Supporting a team of young researchers to create an independent research program based on the use of Sleeping Beauty protocol f or the development of CAR T Cells – SEATTLE’). Diana Gulei, Diana Cenariu, Adrian Bogdan Tigu, Jon Thor Bergthorsson and Victor Greiff are supported by an international collaborative grant of the European Economic Space between Romania and Iceland 2021–2023: ‘Cooperation strategy for knowledge transfer, internationalization and curricula innovation in the field of research education at the 3rd level of study –AURORA.’ Publisher Copyright: © 2023 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.Acute megakaryoblastic leukaemia (AMkL) is a rare subtype of acute myeloid leukaemia (AML) representing 5% of all reported cases, and frequently diagnosed in children with Down syndrome. Patients diagnosed with AMkL have low overall survival and have poor outcome to treatment, thus novel therapies such as CAR T cell therapy could represent an alternative in treating AMkL. We investigated the effect of a new CAR T cell which targets CD41, a specific surface antigen for M7-AMkL, against an in vitro model for AMkL, DAMI Luc2 cell line. The performed flow cytometry evaluation highlighted a percentage of 93.8% CAR T cells eGFP-positive and a limited acute effect on lowering the target cell population. However, the interaction between effector and target (E:T) cells, at a low ratio, lowered the cell membrane integrity, and reduced the M7-AMkL cell population after 24 h of co-culture, while the cytotoxic effect was not significant in groups with higher E:T ratio. Our findings suggest that the anti-CD41 CAR T cells are efficient for a limited time spawn and the cytotoxic effect is visible in all experimental groups with low E:T ratio.Peer reviewe