keyword
https://read.qxmd.com/read/37699739/rare-cause-of-persistent-hypocalcaemia-in-infancy-due-to-pth-gene-mutation
#21
JOURNAL ARTICLE
Savita Khadse, Vrushali Satish Takalikar, Radha Ghildiyal, Nikhil Shah
Hypocalcaemia is a frequently encountered electrolyte abnormality in neonates and it is mostly transient. However, persistent hypocalcaemia can point towards an endocrine abnormality like hypoparathyroidism, which is usually due to genetic disorders like DiGeorge and Kearns Sayre syndrome or due to mutations of genes like GCM2, CaSR and PTH.Our patient was a female child, who presented with hypocalcaemic convulsions in the neonatal period. On laboratory assessment, serum phosphate levels were noted to be high along with inappropriately low parathyroid hormone (PTH) levels...
September 12, 2023: BMJ Case Reports
https://read.qxmd.com/read/37657823/severe-pre-eclampsia-as-a-rare-cause-of-profound-hyponatraemia
#22
JOURNAL ARTICLE
Louise Dunphy, Yasmin Sadik, Zubair Qureshi, Samira Furara
Profound hyponatraemia, defined as sodium <125 mmol/L, is a very rare complication of pre-eclampsia (PET) with a relative paucity of cases reported. Pre-eclampsia is a multisystem disorder with a maternal mortality of up to 20%. Hyponatraemia is associated with disease severity, twin pregnancy, advanced maternal age, in vitro fertilisation and HELLP (haemolysis, elevated liver enzymes and low platelets). The authors present the case of a low-risk nulliparous woman presenting with frontal headache and normal BP at 31+2 weeks gestation...
September 1, 2023: BMJ Case Reports
https://read.qxmd.com/read/37545297/neonatal-iatrogenic-calcinosis-cutis-caused-by-calcium-gluconate-extravasation
#23
JOURNAL ARTICLE
Changsheng Pu, Junqiu Li, Menglei Wang, Yan Xie, Yuxi Su
BACKGROUND: Calcium gluconate is widely used to treat neonatal hypocalcemia, severe hyperkalemia, and convulsions. However, extravasation of calcium gluconate can lead to iatrogenic calcinosis, causing symptoms such as local redness and swelling, cutaneous plaque, soft tissue calcification, and cutaneous tissue necrosis. Therefore, this study retrospectively analyzed the conservative treatment results of neonatal iatrogenic calcinosis. METHODS: Data of neonates diagnosed with iatrogenic calcinosis cutis caused by calcium gluconate exudation between December 2012 and June 2021 were analyzed retrospectively...
August 6, 2023: Journal of Vascular Access
https://read.qxmd.com/read/37377254/meconium-stained-amniotic-fluid-and-neonatal-morbidity-in-nulliparous-patients-with-prolonged-pregnancy
#24
JOURNAL ARTICLE
Isabelle Attali, Diane Korb, Elie Azria, Jacques Lepercq, François Goffinet, Thomas Schmitz
INTRODUCTION: Our objective was to study the strength of the association between meconium-stained amniotic fluid and severe morbidity among neonates of nulliparas with prolonged pregnancies. MATERIAL AND METHODS: This was a secondary analysis of the NOCETER randomized trial that took place between 2009 and 2012 in which 11 French maternity units included 1373 nulliparas at 41+0  weeks of gestation onwards with a single live fetus in cephalic presentation...
June 28, 2023: Acta Obstetricia et Gynecologica Scandinavica
https://read.qxmd.com/read/37343176/acute-kidney-injury-in-neonatal-hypoxic-ischemic-encephalopathy-patients-treated-with-therapeutic-hypothermia-incidence-and-risk-factors
#25
JOURNAL ARTICLE
Emre Dincer, Sevilay Topçuoğlu, Elif Betül Keskin Çetinkaya, Özge Yatır Alkan, Elif Özalkaya, Selim Sancak, Güner Karatekin
Studies in infants with hypoxic-ischemic encephalopathy (HIE) due to perinatal asphyxia have generally focused on neurological outcomes. Although acute kidney injury (AKI) rate decreased in advent of therapeutic hypothermia (TH), it is still a common and important entity. In this retrospective study, we aimed to investigate the risk factors for AKI in HIE patients treated with hypothermia. Infants treated with TH due to HIE were reviewed retrospectively and infants who developed AKI and not were compared. Ninety-six patients were enrolled in the study...
June 21, 2023: Therapeutic Hypothermia and Temperature Management
https://read.qxmd.com/read/37243803/neurological-and-endocrinological-involvement-in-neonatal-lupus-erythematosus-a-retrospective-study-at-a-tertiary-hospital-in-eastern-china
#26
JOURNAL ARTICLE
Wenqiang Sun, Li Ding, Mengzhao Li, Changchang Fu, Zihao Yang, Xueping Zhu
INTRODUCTION: Neonatal lupus erythematosus (NLE) is a rare autoimmune disease that causes transient impairment of multi-organ functions and is mainly caused by maternally transmitted antibodies. OBJECTIVE: This study aims to investigate the clinical features of infants with NLE, focusing on the presence of neurological and endocrinological involvement. METHODS: The clinical data of infants diagnosed with NLE at the Children's Hospital of Soochow University from 2011 to 2022 were collected and retrospectively analyzed...
May 27, 2023: Clinical Rheumatology
https://read.qxmd.com/read/37089352/modelling-hyperexcitability-in-human-cerebral-cortical-organoids-oxygen-glucose-deprivation-most-effective-stimulant
#27
JOURNAL ARTICLE
Afifa Saleem, Alexandra C Santos, Mark S Aquilino, Adam A Sivitilli, Liliana Attisano, Peter L Carlen
Epilepsy is a common neurological disorder that affects 1% of the global population. The neonatal period constitutes the highest incidence of seizures. Despite the continual developments in seizure modelling and anti-epileptic drug development, the mechanisms involved in neonatal seizures remain poorly understood. This leaves infants with neonatal seizures at a high risk of death, poor prognosis of recovery and risk of developing neurological disorders later in life. Current in vitro platforms for modelling adult and neonatal epilepsies - namely acute cerebral brain slices or cell-derived cultures, both derived from animals-either lack a complex cytoarchitecture, high-throughput capabilities or physiological similarities to the neonatal human brain...
April 2023: Heliyon
https://read.qxmd.com/read/37074078/pituitary-stalk-interruption-syndrome-clinical-presentation-and-management-of-a-potentially-life-threatening-disease-in-newborns
#28
JOURNAL ARTICLE
Ira Winkler, Elisabeth Steichen, Klaus Kapelari, Peter Wöckinger, Vera Neubauer, Ursula Kiechl-Kohlendorfer, Elke Griesmaier
Pituitary stalk interruption syndrome (PSIS) is a rare congenital disease resulting in hypopituitarism of variable degree. Serious courses, due to severe combined pituitary insufficiency, are even rarer and associated with a very early manifestation immediately after birth. First clinical signs are elusive and lead to delayed diagnosis and treatment, often resulting in life-threatening complications. Objective of the current report is to point out early leading symptoms and key issues of neonatal manifested PSIS to increase the awareness, improve the clinical management and thereby enable an early diagnosis and treatment to prevent further complications...
April 19, 2023: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/37070633/antiseizure-medication-use-during-pregnancy-and-neonatal-growth-outcomes-a-systematic-review-and-meta-analysis
#29
REVIEW
Alekhya Lavu, Christine Vaccaro, Enav Zusman, Laila Aboulatta, Basma Aloud, Silvia Alessi-Severini, Lara Haidar, Payam Peymani, Marcus C Ng, Chelsea Ruth, Jamison Falk, Brianne Desrochers, Eunice Valencia, Walid Shouman, Rasheda Rabbani, Sherif Eltonsy
AIM: We aimed to systematically synthesize the current published literature on neonatal growth outcomes associated with antiseizure medications (ASMs) use during pregnancy. METHODS: We searched seven databases, from inception to March 23rd, 2022. We investigated small for gestational age (SGA) and low birth weight (LBW) as primary outcomes and birth weight, birth height, cephalization index and head circumference as secondary outcomes. The primary analysis included pregnant people exposed to any ASM compared with unexposed pregnant people...
April 18, 2023: British Journal of Clinical Pharmacology
https://read.qxmd.com/read/37050856/severe-hemolytic-anemia-and-metabolic-acidosis-at-birth-with-glutathione-synthetase-deficiency-and-progressive-neurological-symptoms-on-follow-up
#30
JOURNAL ARTICLE
Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama
BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthetase (GSS) gene variants that occur in 1 in 1 million individuals. The severe form of GSD is characterized by hemolytic anemia, metabolic acidosis with 5-oxoprolinuria, progressive neurological symptoms, and recurrent bacterial infections. This case report presents a male Japanese infant with severe hemolytic anemia and metabolic acidosis at birth caused by GSD, who developed progressive neurological symptoms on follow-up...
April 13, 2023: American Journal of Case Reports
https://read.qxmd.com/read/37041538/caregivers-perception-of-common-neonatal-illnesses-and-their-management-among-rural-dwellers-in-enugu-state-nigeria-a-qualitative-study
#31
JOURNAL ARTICLE
Onyinye H Chime, Chizoma I Eneh, Isaac N Asinobi, Uchenna Ekwochi, Ikenna Kingsley Ndu, Obinna C Nduagubam, Ogechukwu F Amadi, Donatus Chidiebere Osuorah
BACKGROUND: Neonatal mortality continues to be a challenge in Nigeria, where low-quality care, caregivers' ignorance of signs of neonatal illnesses, and prevalent use of unorthodox alternatives to health care predominate. Misconceptions originating and propagating as traditional practices and concepts can be linked to adverse neonatal outcomes and increased neonatal mortality. This study explores the perceptions of causes and management of neonatal illness among caregivers in rural communities in Enugu state, Nigeria...
April 11, 2023: BMC Public Health
https://read.qxmd.com/read/37026195/a-randomized-controlled-trial-of-loading-dose-alone-versus-pritchard-regimen-of-magnesium-sulphate-for-seizure-prophylaxis-in-severe-preeclampsia
#32
RANDOMIZED CONTROLLED TRIAL
Anthony Adinoyi Obanimoh, Aliyu Yabagi Isah, Habiba Ibrahim Abdullahi, Nathaniel Daniel Adewole, Bissalah Ahmed Ekele
BACKGROUND: Preeclampsia poses a significant risk of maternal and neonatal morbidity and mortality. Magnesium sulfate superiority for seizure prophylaxis in severe preeclampsia has been proven globally. However, the search for the lowest effective dose is an area of continuing research. AIM: The aim of this study was to compare the effectiveness of loading dose with the Pritchard regimen of magnesium sulfate for seizure prophylaxis in severe preeclampsia. MATERIALS AND METHODS: A total of 138 eligible women after 28-week gestation with severe preeclampsia were randomized to either receiving a single loading dose of MgSO4 (study arm: n = 69) or Pritchard regimen of MgSO4 (control: n = 69)...
2023: Annals of African Medicine
https://read.qxmd.com/read/36997923/knowledge-and-practices-of-home-caregivers-on-neonatal-danger-signs-pre-admission-to-tamale-teaching-hospital-ghana-an-explorative-descriptive-study
#33
JOURNAL ARTICLE
Joyce Fatima Kanton, Alberta P Gyepi-Garbrah, Olivia Nyarko Mensah, Doris Richardson, Dzigbordi Kpikpitse, Hannah Acquah, Stephanie Ajinkpang, Deborah Azalekor, Mary Ani Amponsah, Alhassan Abdul-Mumin
INTRODUCTION: Neonatal illnesses can prove to be fatal if not identified early and treated. This suggests that death occasioned as result of neonatal illness could be prevented. However, it has been observed that most mothers report to the hospital late with their newborns in critical state, making it difficult for professionals to salvage the problem often than not. This study sought to explore the knowledge and practices of home caregivers on neonatal danger signs pre-admission to Tamale Teaching Hospital a tertiary hospital in northern Ghana...
March 30, 2023: BMC Pediatrics
https://read.qxmd.com/read/36917898/comparison-of-zuspan-regimen-and-its-12-hour-modification-in-women-with-severe-pre-eclampsia-and-eclampsia-in-two-hospitals-in-abeokuta
#34
JOURNAL ARTICLE
Elizabeth Oluwakemi Grillo, David Olalekan Awonuga, Iyabo Olabisi Florence Dedeke, Olusanya Abiodun, John O Imaralu, John Obafemi Sotunsa, Olanrewaju Saheed Jimoh, Chimaobi Nwankpa
BACKGROUND: Hypertensive disorders in pregnancy (HDP) are leading causes of maternal mortality (with severe pre-eclampsia/eclampsia [SPE/EC] being causes of death). Magnesium sulphate (MgSO4 ) has proven to be the drug of choice for SPE/EC management. However, its availability and cost remain a drawback to its use in developing countries. This study aimed to compare Zuspan regimen with its 12-hour modification for SPE/EC management in two major hospitals in Abeokuta, Ogun state, South Western Nigeria...
March 11, 2023: Pregnancy Hypertension
https://read.qxmd.com/read/36909089/a-case-report-on-cns-hemophagocytic-lymphohistiocytosis-in-an-infant-with-dengue-hemorrhagic-fever
#35
Amodini Arora, Sarita Verma, Nikita Khot, Shiji Chalipat, Sharad Agarkhedkar, Kala Gnanasekaran Kiruthiga
India is an endemic country for dengue. The incidence of hemophagocytic lymphohistiocytosis (HLH) with dengue in children has been well-reported. However, central nervous system (CNS) HLH associated with dengue has not been described in the literature yet. We hereby report a novel case of CNS HLH triggered by dengue infection. An eight-month-old, well-grown male infant with uneventful antenatal, perinatal, and neonatal history was admitted with a history of febrile illness associated with cough, cold, vomiting, and loose motions and one episode of hematochezia and hepatosplenomegaly on examination...
February 2023: Curēus
https://read.qxmd.com/read/36876678/the-role-of-metabolic-diseases-in-neonatal-convulsions
#36
JOURNAL ARTICLE
S Samanci, M Celik, O Akdeniz, I Deger, N Özgün, B Kanar, H Tüzün
OBJECTIVE: The neonatal period is the most vulnerable time for the development of seizures, particularly in the first weeks after birth. These seizures often signify serious malfunction or damage to the immature brain and constitute a neurological emergency, necessitating urgent diagnosis and management. This study was performed to identify the etiology of convulsions during the neonatal period and to determine the rate of congenital metabolic disease. PATIENTS AND METHODS: A total of 107 term and preterm infants 0-28 days old who were treated and followed-up in the neonatal intensive care unit of our hospital between January 2014 and December 2019 were analyzed retrospectively based on data obtained by scanning the hospital information system and patient files...
February 2023: European Review for Medical and Pharmacological Sciences
https://read.qxmd.com/read/36854688/-clinical-practice-of-whole-genome-sequencing-in-the-rapid-diagnosis-of-critically-ill-neonates
#37
JOURNAL ARTICLE
Fei-Fan Xiao, Yu-Lan Lu, Bing-Bing Wu, Xin-Ran Dong, Guo-Qiang Cheng, Li-Yuan Hu, Wen-Hao Zhou, Xiao-Min Peng, Lin Yang, Hui-Jun Wang
OBJECTIVES: To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates. METHODS: The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates...
February 15, 2023: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://read.qxmd.com/read/36853497/benefits-and-risks-of-antidepressant-drugs-during-pregnancy-a-systematic-review-of-meta-analyses
#38
Pierre Desaunay, Léa-Gabrielle Eude, Michel Dreyfus, Cénéric Alexandre, Sophie Fedrizzi, Joachim Alexandre, Faruk Uguz, Fabian Guénolé
BACKGROUND: The prescription of antidepressant drugs during pregnancy has been steadily increasing for several decades. Meta-analyses (MAs), which increase the statistical power and precision of results, have gained interest for assessing the safety of antidepressant drugs during pregnancy. OBJECTIVE: We aimed to provide a meta-review of MAs assessing the benefits and risks of antidepressant drug use during pregnancy. METHODS: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, a literature search on PubMed and Web of Science databases was conducted on 25 October, 2021, on MAs assessing the association between antidepressant drug use during pregnancy and health outcomes for the pregnant women, embryo, fetus, newborn, and developing child...
May 2023: Paediatric Drugs
https://read.qxmd.com/read/36833293/de-novo-variant-in-the-kcnj9-gene-as-a-possible-cause-of-neonatal-seizures
#39
Taisiya O Kochetkova, Dmitry N Maslennikov, Ekaterina R Tolmacheva, Jekaterina Shubina, Anna S Bolshakova, Dzhenneta I Suvorova, Anna V Degtyareva, Irina V Orlovskaya, Maria V Kuznetsova, Anastasia A Rachkova, Gennady T Sukhikh, Denis V Rebrikov, Dmitriy Yu Trofimov
BACKGROUND: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749). METHODS: The child presented with convulsive syndrome on the third day of life. Generalized convulsive seizures were accompanied by electroencephalographic patterns corresponding to epileptiform activity...
January 31, 2023: Genes
https://read.qxmd.com/read/36709936/-analysis-of-suox-gene-variants-and-clinical-features-in-a-child-with-isolated-sulfite-oxidase-deficiency
#40
JOURNAL ARTICLE
Yujuan Wang, Xinqiang Lan
OBJECTIVE: To explore the clinical features and genetic basis for a child with early-onset Isolated sulfite oxidase deficiency (ISOD). METHODS: A child with ISOD who was admitted to Weihai Hospital Affiliated to Qingdao University on May 10, 2020 was selected as the study subject. Clinical data of the child was analyzed. The child and her parents were subjected to trio-whole exome sequencing, and candidate variants were verified by Sanger sequencing. RESULTS: The female neonate was transferred to the intensive care unit due to "secondary pollution of amniotic fluid and laborious breathing for 11 minutes", and had developed frequent convulsions...
February 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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