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Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.
No full textIntroduction: Combined oxidative phosphorylation deficiency-12 (COXPD12) is a rare autosomal recessive disorder. Neurological findings and lactic acidosis can be presenting signs of COXPD12. Case Presentation: Here, we present identical dysmorphic facial features that have not been described before in the literature, in 2 patients with two different EARS2 gene variants. Case 1 was a 2.5- month-old male who presented with hypotonia and lactic acidosis. Cranial magnetic resonance imaging (MRI) showed diffusion restriction in the supratentorial deep white matter, around the ventricle, in the bilateral periaqueductal gray matter at the level of the basal ganglia, and in the dentate nuclei in the tegmentum. Case 2 was a 2-month-old boy who also presented with lactic acidosis and hypotonia. Diffusion MRI reported hypomyelination. Dysmorphic facial features including slight metopic ridge, ptosis, wide palpebral fissure length, sparse eyebrows, bulbous nose, thin upper lip, full cheeks, small chin, large ears, thin ear helix, and prominent antihelix were common findings in both patients. Molecular genetic analysis indicated c.319C>T(p. Arg107Cys) common genetic variant in our 2 patients. In case 2, the second allele was a novel genetic variant. Conclusion: For COXPD12 disease, facial features are considered the main diagnostic clue, such as hypotonia or lactic acidosis; thus, the characteristic facial phenotype will help clinicians diagnose the disease
Özgül Öğrenme Bozukluğunda Yürütücü İşlevler, Zihin Kuramı Becerileri, Duygu Düzenleme Becerileri ile Sosyal Becerilerin İlişkisi
No full textThe Entanglement of Water, Human and Non-Human Agencies in Paolo Bacigalupi's The Water Knife, Ship Breaker and The Drowned Cities in The Light of The Blue Humanities
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The origins of copper ores at Gre Fiılla (TÜRKI YE): Lead isotopic evidence for multi-source procurement
No full textGre F & imath;lla in southeastern Anatolia is a Pre-Pottery Neolithic site that provides critical insights into the emergence of metallurgy. Excavations at the site have revealed numerous copper ore fragments and copper objects, indicating an early engagement with metal production. Inductively Coupled Plasma-Mass Spectrometer (ICP-MS) and lead isotope analysis (LIA) of copper ore samples from Gre F & imath;lla demonstrates a multi-source procurement strategy. While the majority of samples exhibit isotopic signatures consistent with the Bolkar-Ergani group, defined by overlapping values from southeastern and central Anatolian deposits, some samples closely align with the Alihoca ore deposit. These results indicate that copper used at Gre F & imath;lla came from both nearby and distant sources, reflecting the existence of complex and long-distance networks during the Pre-Pottery Neolithic B (PPNB). Additionally, the presence of various sources both for obsidian and copper highlights the community's integration into extensive systems of "exotic" material exchange. Such networks likely played a key role in fostering cultural connectivity across the Near East, contributing to the shared development of rituals, symbolic practices, and craft traditions observed among early Neolithic societies
