169 unselected children were given the WPPSI at 4 1/2 years and the WISC-R at 8 1/2 years. Retrospective data on perinatal risk factors and neurological disease in childhood were collected. Verbal-performance discrepancies at 4 1/2 years were not related to perinatal risk, childhood neurological disease, left-handedness or subsequent reading ability. A weak relationship was found between WISC-R verbal-performance discrepancies and perinatal history. At 8 1/2 years, VIQ correlated much more strongly with reading ability than did PIQ. Consequently, the relationship between verbal-performance discrepancy and specific reading retardation depends critically on how reading retardation is defined. Logical problems concerning the definition of specific reading retardation are discussed.
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http://dx.doi.org/10.1016/s0010-9452(80)80039-6 | DOI Listing |
J Clin Endocrinol Metab
December 2024
Research Centre for Medical Genetics, Moscow, Russian Federation.
Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.
Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.
Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.
Pak J Med Sci
November 2024
Nazia Liaqat, MBBS, FCPS (Obstetrics & Gynecology) Associate Professor, Department of Gynecology, Medical Teaching Institute, Lady Reading Hospital, Peshawar, Pakistan.
Swiss Med Wkly
November 2024
Service of Old Age Psychiatry, Department of Psychiatry, Lausanne University Hospital and University of Lausanne, Prilly, Switzerland.
Eur J Obstet Gynecol Reprod Biol
January 2024
Department of Women and Children's Health, St Thomas' Hospital, King's College London, UK; Department of Perinatal Imaging, St Thomas' Hospital, King's College London, UK; Department of Fetal Medicine, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Virus Res
November 2023
Obstetrical Department, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222006, China. Electronic address:
Background: Human Cytomegalovirus virus (HCMV) is a worldwide virus that causes no serious symptoms in most adults. However, HCMV infection during pregnancy, it may lead to a series of serious complications, such as hearing loss, mental retardation, visual impairment, microcephaly and developmental retardation.
Aim: The aim of this study was to develop a simple, low dependence on equipment and accurate method for HCMV detection based on the recombinase polymerase amplification (RPA) and lateral flow chromatography strip (LFS) reading.
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