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| http://dx.doi.org/10.5664/jcsm.7504 | DOI Listing |
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This case report presents a rare occurrence of 49,XXXXY syndrome in a 14-month-old male, the first documented case from Nepal, highlighting several distinctive clinical features. The patient had a height and weight below the third centile at birth and exhibited dysmorphic facial features, including a flat facial profile, flat nasal bridge, broad nose, low-set ears, and clinodactyly, along with genital anomalies like micropenis and small testes. Neurologically, he demonstrated generalized hypotonia and global developmental delay.
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Congenital myasthenia syndrome (CMS) is an inherited disorder that involves muscle weakness and fatigue. It can present at birth or late childhood and has variable presentations and severity. It consists of a heterogeneous group of disorders characterized by defective neuromuscular junction (NMJ) transmission.
View Article and Find Full Text PDFLiver Transplantation for Children With Budd-Chiari Syndrome: A Case Report From Vietnam and Literature Review.
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Unlabelled: Budd-Chiari syndrome (BCS) presents with various degrees of liver damage, and the choice of treatment depends on the type and extent of hepatic injury. Liver transplantation (LT) is considered as the final treatment option when other interventions are not feasible and when the liver injury is irreversible. We report a case of a pediatric patient with BCS who underwent liver transplantation from a living donor in the context of thrombophilic disorder.
View Article and Find Full Text PDFAltercentric bias in preverbal infants' encoding of object kind.
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University of Copenhagen, Denmark.
Human infants may exhibit an altercentric bias, where the perspective of others biases their own cognition. This bias may serve a crucial learning function in early ontogeny. This work tested the two main predictions of an altercentric bias in 14-month-old infants: (i) conceptual information should also be encoded altercentrically, and (ii) the other's perspective may completely override infants' own processing.
View Article and Find Full Text PDFA Concurrent Validity Study of the Mullen Scales of Early Learning (MSEL) and the MacArthur-Bates Communicative Developmental Inventory (CDI) in Infants with an Elevated Likelihood or Diagnosis of Autism.
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Faculty of Psychology, University of Warsaw, Warsaw, Poland.
Infants at elevated likelihood for or later diagnosed with autism typically have smaller vocabularies than their peers, as shown by the Mullen Scales of Early Learning (MSEL) and the MacArthur-Bates Communicative Developmental Inventory (CDI). However, the extent to which MSEL and CDI scores align remains unclear, especially across clinical and non-clinical populations. This study examined whether the concurrent validity of the MSEL and CDI differs based on autism likelihood and diagnosis.
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