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
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
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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