Clin Pediatr (Phila) 2021 Jul 10;60(8):336-340. Epub 2021 May 10.
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Neuroimage Clin 2021 Jun 5;31:102709. Epub 2021 Jun 5.
Institute of Bioengineering, Ecole Polytechnique Fédérale de Lausanne, Switzerland; Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland; Brain and Mind Research, Clinical Sciences, Murdoch Children's Research Institute, Melbourne, Australia; Division of Development and Growth, Department of Paediatrics, Faculty of Medicine, University of Geneva, Switzerland. Electronic address:
Agenesis of the corpus callosum (AgCC) is a congenital brain malformation characterized by the complete or partial failure to develop the corpus callosum. Despite missing the largest white matter bundle connecting the left and right hemispheres of the brain, studies have shown preserved inter-hemispheric communication in individuals with AgCC. It is likely that plasticity provides mechanisms for the brain to adjust in the context of AgCC, as the malformation disrupts programmed developmental brain processes very early on. Read More
Methods Enzymol 2021 9;654:383-405. Epub 2021 Apr 9.
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, United States. Electronic address:
Patch clamp recording enabled a revolution in cellular electrophysiology, and is useful for evaluating the functional consequences of ion channel gene mutations or variants associated with human disorders called channelopathies. However, due to massive growth of genetic testing in medical practice and research, the number of known ion channel variants has exploded into the thousands. Fortunately, automated methods for performing patch clamp recording have emerged as important tools to address the explosion in ion channel variants. Read More
Mol Cell Endocrinol 2021 Jun 10:111359. Epub 2021 Jun 10.
Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética. Buenos Aires, Argentina; CONICET-Universidad de Buenos Aires. Instituto de Inmunología, Genética y Metabolismo (INIGEM). Buenos Aires, Argentina. Electronic address:
Thyroglobulin (TG) is a large glycosylated protein of 2,767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead to permanent congenital hypothyroidism. Read More
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2021 ;24:30-36
Department of Cardiac Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
Hypoplastic left heart complex with "borderline left ventricle" and intact ventricular septum is a clinical conundrum for the congenital heart surgeon. The choice between neonatal biventricular repair and single ventricle palliation can be challenging, and the current tools to aid in the decision-making process fail to account for the morbidity associated with intermediate and late diastolic dysfunction. Staged ventricular recruitment, consisting of valvular repair techniques, resection of endocardial fibroelastosis, atrial septal restriction, and augmentation of pulmonary blood flow, has been shown to improve left ventricular size and function culminating in eventual biventricular circulation. Read More
J Neurol Neurosurg Psychiatry 2021 Jun 8. Epub 2021 Jun 8.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Background: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres.Methods: WES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and stringent algorithms for assessing sequence variants. Pathogenic or likely pathogenic missense variants were interpreted using in silico prediction tools, family segregation analysis, previous publications of disease association and relevant biological assays. Read More