Severe transient neonatal long QT syndrome due to maternal paroxetine usage: a case report
Sign Up to like & getrecommendations! Published in 2019 at "Cardiology in the Young"
DOI: 10.1017/s1047951119001938
Abstract: Abstract A female neonate with in utero selective serotonin reuptake inhibitor exposure presented with bradycardia shortly after birth. Electrocardiography showed severe QT prolongation and second-degree atrioventricular block. Over time QT-times spontaneously normalised and genetic testing… read more here.
Keywords: long syndrome; neonatal long; severe transient; usage ... See more keywords
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression
Sign Up to like & getrecommendations! Published in 2020 at "Liver International"
DOI: 10.1111/liv.14642
Abstract: ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholestasis. We describe a group of patients with biallelic ABCB11 variants whose disorder manifested as transient neonatal cholestasis (TNC). read more here.
Keywords: deficiency presenting; neonatal cholestasis; transient neonatal; abcb11 deficiency ... See more keywords
Transient neonatal hypocalcaemia caused by maternal hyperparathyroidism
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-248262
Abstract: Hypocalcaemia in neonates can range from asymptomatic to a potentially life-threatening condition. We present a case of a 36 weeks gestational age boy, admitted to our neonatal intensive care unit for jitteriness, mild hypotonia and breastfeeding… read more here.
Keywords: neonatal hypocalcaemia; maternal hyperparathyroidism; transient neonatal; hypocalcaemia ... See more keywords
Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes
Sign Up to like & getrecommendations! Published in 2024 at "Pediatric Diabetes"
DOI: 10.1155/pedi/3624339
Abstract: Introduction: Transient neonatal diabetes mellitus (TNDM) is a heterogeneous subtype of neonatal diabetes that usually presents within the first days or weeks of life, spontaneously remits in infancy, but can recur in childhood or adolescence… read more here.
Keywords: clinical characteristics; transient neonatal; remission; neonatal diabetes ... See more keywords
Autosomal dominant transmission of transient neonatal lactic acidosis: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pediatrics"
DOI: 10.1186/s12887-020-02085-x
Abstract: Background Lactic acidosis is a common finding in neonates, in whom mitochondrial dysfunction is often secondary to tissue hypoperfusion, respiratory failure, and/or sepsis. Primary (non-physiological) lactic acidosis is comparatively rare, and suggests the presence of… read more here.
Keywords: acidosis; lactic acidosis; transient neonatal; case ... See more keywords
Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pediatrics"
DOI: 10.1186/s12887-020-02201-x
Abstract: Background Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play… read more here.
Keywords: bsep abcb11; neonatal cholestasis; transient neonatal; report ... See more keywords
Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0580
Abstract: Abstract Objectives Niemann–Pick disease type C (NPC) is a lysosomal storage disease due to impaired intracellular lipid trafficking caused by biallelic pathogenic variants in NPC1 or NPC2 genes. NPC is classified according to the age… read more here.
Keywords: niemann pick; transient neonatal; disease type; cholestasis ... See more keywords
Case 3: An Unusual Case of Transient Neonatal Encephalopathy.
Sign Up to like & getrecommendations! Published in 2019 at "NeoReviews"
DOI: 10.1542/neo.20-8-e472
Abstract: A 7-day-old female neonate presents to a local hospital with lethargy, grunting, fast breathing, and abnormal movements after a short history of poor feeding overnight. She was born at 39 weeks’ gestation via cesarean section… read more here.
Keywords: case unusual; neonatal encephalopathy; transient neonatal; unusual case ... See more keywords
1636-P: Transient Neonatal Diabetes: Clinical Differences between Patients Bearing KATP Mutations and 6q24 Defects May Guide Genetic Screening
Sign Up to like & getrecommendations! Published in 2020 at "Diabetes"
DOI: 10.2337/db20-1636-p
Abstract: Transient neonatal diabetes mellitus (TNDM) is a subtype of neonatal diabetes (diagnosis: ≤ 180 days of life) characterized by remission within months from onset. TNDM is almost invariably associated with mutations in genes encoding the… read more here.
Keywords: diabetes onset; remission; transient neonatal; 6q24 defects ... See more keywords
Transient Neonatal Diabetes Mellitus with an Unknown Cause in a 1-Month-Old Infant: A Case Report
Sign Up to like & getrecommendations! Published in 2024 at "Healthcare"
DOI: 10.3390/healthcare12131257
Abstract: Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes characterized by hyperglycemia that remits during infancy with a tendency to recur in later life. This case report presents the history of… read more here.
Keywords: transient neonatal; diabetes mellitus; neonatal diabetes; case report ... See more keywords