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Bargieł Julia, Cabaj Justyna, Tarkowska Agata. A new mutation for Cantu's syndrome.Journal of Education, Health and Sport. 2022;12(6):177-183. eISSN 2391-8306. DOI https://dx.doi.org/10.12775/JEHS.2022.12.06.018 https://apcz.umk.pl/JEHS/article/view/JEHS.2022.12.06.018 https://zenodo.org/record/6657539 The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of December 21, 2021. No. 32343. Has a Journal's Unique Identifier: 201159. Scientific disciplines assigned: Physical Culture Sciences (Field of Medical sciences and health sciences); Health Sciences (Field of Medical Sciences and Health Sciences). Punkty Ministerialne z 2019 - aktualny rok 40 punktów. Załącznik do komunikatu Ministra Edukacji i Nauki z dnia 21 grudnia 2021 r. Lp. 32343. Posiada Unikatowy Identyfikator Czasopisma: 201159. Przypisane dyscypliny naukowe: Nauki o kulturze fizycznej (Dziedzina nauk medycznych i nauk o zdrowiu); Nauki o zdrowiu (Dziedzina nauk medycznych i nauk o zdrowiu). © The Authors 2022; This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike. (http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 27.05.2022. Revised: 05.06.2022. Accepted: 15.06.2022. A new mutation for Cantu's syndrome Nowa mutacja dla zespołu Cantu Julia Bargieł Medical University of Lublin https://orcid.org/0000-0002-1388-8243 Justyna Cabaj Medical University of Lublin https://orcid.org/0000-0002-1394-0638 Agata Tarkowska Medical University of Lublin https://orcid.org/0000-0001-9369-4213 Abstract Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for Cantu syndrome, but given the characteristic appearance and reproducible features in people with a mutation in the ABCC9 gene, there is a conventional clinical picture that may suggest a diagnosis with high probability. This publication presents a case study of a two-week-old female patient who was qualified for genetic testing on the basis of her characteristic clinical picture. Whole exome sequencing revealed the presence of a mutation so far unknown in the human mutation database... Case report: A two-week-old patient was referred to the Neonatal Pathology Unit due to the features of the dysmorphic syndrome in order to extend the diagnosis. Biased family history: the child's mother was diagnosed with hypogonadotrophic hypogonadism with suspected Kallman syndrome. The girl is very similar to her mother - in the physical examination, the following highlights: features of facial dysmorphia, a large, protruding tongue, excessive hair in the head and lumbar region. Due to the possibility of mutations in various genes correlating with Kallmann syndrome, a Whole Exome Sequencing (WES) study was commissioned. The study revealed the detection of a new Arg1116Pro mutation in the ABCC9 allele. Conclusions: In the presence of dimorphic features significant for Cantu syndrome, it is advisable to perform molecular genetic tests involving the use of a multigene panel. In the case of an uncertain clinical picture, it is worth performing Whole Exome Sequencing. Cantu's syndrome is still a little-known disease that is often associated with the coexistence of many serious multi-system diseases. Therefore, it is crucial to make the diagnosis as early as possible in the patient's life so that the patient is immediately provided with multidisciplinary medical care. Keywords: pediatry, Cantu, genetic Abstrakt Wstęp: Zespół Cantu należy do rzadko spotykanych zespołów genetycznych. Formalnie nie istnieją kryteria diagnostyczne dla zespołu Cantu, jednak biorąc pod uwagę charakterystyczny wygląd i powtarzalne cechy u osób z mutacją w genie ABCC9 funkcjonuje umowny obraz kliniczny, który z dużym prawdopodobieństwem może sugerować rozpoznanie. Niniejsza publikacja przedstawia opis przypadku dwutygodniowej pacjentki, którą na podstawie charakterystycznego obrazu klinicznego zakwalifikowano do wykonania badań genetycznych. Sekwencjonowanie całego eksomu wykazało obecność mutacji nieznanej dotąd w bazie mutacji człowieka... Opis przypadku: Dwutygodniowa pacjentka została przekazana do Oddziału Patologii Noworodków z powodu cech zespołu dysmorficznego, celem poszerzenia diagnostyki. Wywiad rodzinny obciążony: u matki dziecka rozpoznano hipogonadyzm hipogonadotropowy z podejrzeniem zepołu Kallmana. Dziewczynka jest bardzo podobna do mamy - w badaniu fizykalnym uwagę zwracają: cechy dysmorfii twarzy, duży, wystający język, nadmierne owłosienie głowy i okolicy lędźwiowej. W związku z możliwością występowania mutacji w różnych genach korelujących z zespołem Kallmanna, zlecono wykonanie badania sekwencjonowania całego eksomu (Whole Exome Sequencing - WES). Badanie wykazało wykrycie nowej mutacji Arg1116Pro w allelu genu ABCC9. Wnioski: Przy występowaniu znamiennych dla zespołu Cantu cech dymorficznych, wskazane jest wykonanie molekularnych testów genetycznych obejmujących wykorzystanie panelu wielogenowego. W przypadku zaś niepewnego obrazu klinicznego warto wykonać sekwencjonowanie całego egzomu (Whole Exome Sequencing). Zespół Cantu stanowi wciąż mało znaną chorobę, która często wiąże się ze współistnieniem wielu poważnych schorzeń wieloukładowych. Kluczowe jest zatem postawienie rozpoznania na jak najwcześniejszym etapie życia pacjenta, aby chory został niezwłocznie objęty multidyscyplinarną opieką medyczną. Słowa kluczowe: pediatria, Cantu, genetyka

In this study, the expression of the genes of the amyloid protein precursor, β-secretase, presenilin 1 and 2 by RT-PCR in the lymphocytes of newborns after perinatal asphyxia and perinatal asphyxia treated with hypothermia was analyzed at the age of 15–21 days. The relative quantification of Alzheimer’s-disease-related genes was first performed by comparing the peripheral lymphocytes of non-asphyxia control versus those with asphyxia or asphyxia with hypothermia. In the newborns who had perinatal asphyxia, the peripheral lymphocytes presented a decreased expression of the amyloid protein precursor and β-secretase genes. On the other hand, the expression of the presenilin 1 and 2 genes increased in the studied group. The expression of the studied genes in the asphyxia group treated with hypothermia had an identical pattern of changes that were not statistically significant to the asphyxia group. This suggests that the expression of the genes involved in the metabolism of the amyloid protein precursor in the peripheral lymphocytes may be a biomarker of progressive pathological processes in the brain after asphyxia that are not affected by hypothermia. These are the first data in the world showing the role of hypothermia in the gene changes associated with Alzheimer’s disease in the peripheral lymphocytes of newborns after asphyxia.

Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of persistent hypoglycaemia in infants and children with incidence estimated at 1 per 50,000 live births. Congenital hyperinsulinism (CHI) is symptomatic mostly in early infancy and the neonatal period. Symptoms range from ones that are unspecific, such as poor feeding, lethargy, irritability, apnoea and hypothermia, to more serious symptoms, such as seizures and coma. During clinical examination, newborns present cardiomyopathy and hepatomegaly. The diagnosis of CHI is based on plasma glucose levels

BACKGROUND Heart diseases are currently a significant cause of morbidity and mortality in newborns. The existing diagnostic methods are often not sufficient or, in many cases, cannot be used. Great advances have been achieved in medical knowledge concerning biomarkers for the diagnosis of circulatory system disorders in adult patients. Among these biomarkers, N-terminal pro-brain type natriuretic peptide (NT-proBNP) plays a main role. However, in the existing literature, there is not enough data concerning the physiological features of this biomarker in newborns and its potential use in neonatal cardiac diagnostics. OBJECTIVES To evaluate the diagnostic usefulness of NT-proBNP measurements in correlation with other markers of circulatory failure and myocardial damage in newborns with heart defects. MATERIAL AND METHODS This study involved 126 newborns. Patients were divided into 2 main groups: group I included infants with congenital heart defects (CHD) and group II (control) included healthy neonates. Newborns with CHD were further divided into 2 subgroups: group Ia with simple shunts and group Ib with combined heart defects. Patients in group I were further divided according to the hemodynamic significance of CHD. The NT-proBNP level was evaluated using the CARDIAC proBNP immunologic test (Cobas h232; Roche Diagnostics, Basel, Switzerland). RESULTS The NT-proBNP concentrations were significantly higher in newborns with CHD compared to healthy ones. Newborns with combined heart defects had higher levels of NT-proBNP than newborns with simple shunts. The NT-proBNP concentrations in newborns with CHD correlated with echocardiographic parameters of hemodynamic significance and with left ventricular ejection fraction (LVEF). Additionally, NT-proBNP correlated with clinical symptoms of heart failure (HF; Ross classification, Reithmann's score). CONCLUSIONS Statistically significant differences in NT-proBNP level between newborns with heart defects and healthy controls were shown. In newborns with heart diseases, significant correlations were found between NT-proBNP level and the type of heart defect (simple shunt or combined defects), the hemodynamic significance of the defect, LVEF, and the clinical intensity of HF.

Perinatal asphyxia is mainly a brain disease leading to the development of neurodegeneration, in which a number of peripheral lesions have been identified, however, little is known about the expression of key genes involved in amyloid production by peripheral cells, such as lymphocytes, during the development of hypoxic-ischemic encephalopathy. We analyzed the gene expression of the amyloid protein precursor, β-secretase, presenilin 1 and 2 and hypoxia-inducible factor 1-α by RT-PCR in the lymphocytes of post-asphyxia and control neonates. In all examined periods after asphyxia, decreased expression of the genes of the amyloid protein precursor, β-secretase and hypoxia-inducible factor 1-α was noted in lymphocytes. Conversely, expression of presenilin 1 and 2 genes decreased on days 1–7 and 8–14 but increased after survival for more than 15 days. We believe that the expression of presenilin genes in lymphocytes could be a potential biomarker to determine the severity of the post-asphyxia neurodegeneration or to identify the underlying factors for brain neurodegeneration and get information about the time they occurred. This appears to be the first worldwide data on the role of the presenilin 1 and 2 genes associated with Alzheimer’s disease in the dysregulation of neonatal lymphocytes after perinatal asphyxia.

Perinatal asphyxia is mainly a brain disease leading to the development of neurodegeneration, in which a number of peripheral lesions have been identified; however, little is known about the expression of key genes involved in amyloid production by peripheral cells, such as lymphocytes, during the development of hypoxic-ischemic encephalopathy. We analyzed the gene expression of the amyloid protein precursor, β-secretase, presenilin 1 and 2 and hypoxia-inducible factor 1-α by RT-PCR in the lymphocytes of post-asphyxia and control neonates. In all examined periods after asphyxia, decreased expression of the genes of the amyloid protein precursor, β-secretase and hypoxia-inducible factor 1-α was noted in lymphocytes. Conversely, expression of presenilin 1 and 2 genes decreased on days 1–7 and 8–14 but increased after survival for more than 15 days. We believe that the expression of presenilin genes in lymphocytes could be a potential biomarker to determine the severity of the post-asphyxia neurodegeneration or to identify the underlying factors for brain neurodegeneration and get information about the time they occurred. This appears to be the first worldwide data on the role of the presenilin 1 and 2 genes associated with Alzheimer’s disease in the dysregulation of neonatal lymphocytes after perinatal asphyxia.

Introduction: In this paper, we evaluated the physiologic ranges of cardiac troponin T (cTnT) serum concentrations in healthy newborns. This is significant because these ranges have not been determined yet, especially for newborns older than 7 days. Cardiac troponins are widely used as diagnostic markers in adults; however, they cannot be routinely used in infants due to lack of data concerning normal values in this age group. Aim: To determine the physiologic ranges of cTnT concentrations in newborns and to evaluate the influence of factors such as age, sex, and blood saturation. Methods: The study involved 59 newborns up to 46 weeks of postmenstrual age (full-term and preterm). The exclusion criteria were severe perinatal asphyxia and presence of severe diseases. Troponin T concentrations were evaluated by the Roche CARDIAC T Quantitative Test. The obtained results were statistically analyzed by the use of the Statistica 9.0 computer program. Results: The study revealed that cTnT levels in newborns correlate with postmenstrual age, but not with chronologic or fetal age. Sex, delivery mode, and blood oxygenation did not influence cTnT concentrations in the studied patients. Conclusions: (1) Cardiac troponin T concentration depends on postmenstrual age in newborns. (2) Cardiac troponin T concentration in newborns does not depend on sex, mode of delivery, or blood saturation.