Partington X-Linked Mental Retardation Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 1, MENTAL RETARDATION, X-LINKED 36, MENTAL RETARDATION, X-LINKED, SYNDROMIC 1

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Introduction

Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (<i>ARX</i>) gene (Xp22.13). Transmission is X-linked recessive.

100 Clinical Results associated with Partington X-Linked Mental Retardation Syndrome

100 Translational Medicine associated with Partington X-Linked Mental Retardation Syndrome

0 Patents (Medical) associated with Partington X-Linked Mental Retardation Syndrome

Literatures (Medical) associated with Partington X-Linked Mental Retardation Syndrome

01 May 2024·Journal of Health Psychology

Post-traumatic stress in older, community-dwelling adults with hypertension during the COVID-19 pandemic: An investigation of pre-pandemic sociodemographic, health, and vascular and inflammatory biomarker predictors

Article

Author: Lobo, Judith D ; Redwine, Laura S ; Walker, Amanda L ; Castillo, Monica Feliz R ; Pung, Meredith A ; Wilson, Kathleen L ; Ang, Gavrila ; Leal, Juan Andrew ; Hong, Suzi ; Sanchez, Yaniel Ramirez ; Troyer, Emily A ; Cirilo, Anthony ; Kohn, Jordan N ; Pruitt, Christopher

COVID-19 pandemic-related traumatic stress (PRTS) symptoms are reported in various populations, but risk factors in older adults with chronic medical conditions, remain understudied. We therefore examined correlates and pre-pandemic predictors of PRTS in older adults with hypertension during COVID-19. Participants in California, aged 61–92 years ( n = 95), participated in a pre-pandemic healthy aging trial and later completed a COVID-19 assessment (May to September 2020). Those experiencing ⩾1 PRTS symptom ( n = 40), and those without PRTS symptoms ( n = 55), were compared. The PRTS+ group had poorer mental and general health and greater impairment in instrumental activities of daily living. Pre-pandemic biomarkers of vascular inflammation did not predict increased odds of PRTS; however, greater pre-pandemic anxiety and female gender did predict PRTS during COVID-19. Our findings highlight PRTS as a threat to healthy aging in older adults with hypertension; targeted approaches are needed to mitigate this burden, particularly for females and those with pre-existing anxiety.

01 Jan 2024·Journal of Cutaneous Pathology

Superficial CD34 fibroblastic tumors and PRDM10‐rearranged soft tissue neoplasm: An evolving diagnosis

Author: Sligh, James ; Gibbs, Julie ; Parsa, Leila ; Johnson, Cassandra

AbstractSuperficial CD34 fibroblastic tumors (SCD34FT) and PRDM10‐rearranged tumors (PRTs) are mesenchymal tumors that have recently received increased scientific attention due to their irrefutable similarities yet debatable relationship. A 74‐year‐old male presented to the dermatology clinic with a violaceous, well‐defined nodule on the left medial knee of 2‐year duration. Shave biopsy demonstrated spindle cells arranged in a vaguely storiform pattern forming fascicles. Immunohistochemical stains were positive for vimentin, CD68, CD10, and CD34 diffusely. ERG, S‐100, HMB45, and SOX‐10 were negative. Molecular studies identified a mediator complex subunit 12 (MED12)‐PR/SET Domain 10 (PRDM10) gene fusion thus favoring confirming the diagnosis of a PRT. Our patient underwent wide local excision with negative margins and had no complications. This case aims to provide context for considering SCD34FT and PRT as intersecting entities and to discuss a diagnostic approach when encountering these tumors.

01 Oct 2023·International Orthopaedics

Concomitant posterior anchoring further reduces posterior meniscal extrusion during pullout repair of medial meniscus posterior root tears: a retrospective study

Article

Author: Furumatsu, Takayuki ; Tamura, Masanori ; Ozaki, Toshifumi ; Hiranaka, Takaaki ; Zhang, Ximing ; Kintaka, Keisuke ; Higashihara, Naohiro ; Xue, Haowei

PURPOSETranstibial pullout repair improves the clinical outcomes of medial meniscus (MM) posterior root tears (PRTs); however, reducing MM extrusion remains challenging. Thus, the purpose of this study was to examine the role of additional posterior anchoring (PA) during pullout repair in reducing the severity of MM extrusion compared to pullout repair alone.METHODSPatients who underwent pullout repair with two-cinch stitches (TCS) only or TCS combined with PA (TCS-PA)-deployment of an additional suture anchor in the posteromedial corner of MM-were included retrospectively. MM medial and posterior extrusion (MMME and MMPE), MM extrusion and remaining volume (MMEV and MMRV), and corresponding ratios were evaluated pre-operatively and three months post-operatively using a three-dimensional meniscal model at 10° and 90° of knee flexion and compared within and between groups.RESULTSA total of 15 and 16 patients treated with TCS and TCS-PA, respectively, were enrolled. At 90° knee flexion, both techniques significantly reduced MMPE (TCS: 4.2 ± 0.7 mm to 3.5 ± 0.6 mm, p < 0.05; TCS-PA: 3.7 ± 0.8 mm to 2.8 ± 0.7 mm, p < 0.05) at three months post-operatively. TCS-PA reduced MMPE more significantly than TCS alone (p < 0.05). Only TCS-PA significantly improved the MMEV and MMRV ratios (39.6 ± 8.9% to 28.1 ± 6.0%, p < 0.05 and 60.4 ± 8.9% to 71.9 ± 6.0%, p < 0.05, respectively). Significance was not found in all other comparisons.CONCLUSIONSBoth techniques improved MMPE at knee flexion at the three month follow-up, with TCS-PA providing significantly superior results. Our findings support the evidence that the application of PA may be an effective surgical option for alleviating persistent MMPE.

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Partington X-Linked Mental Retardation Syndrome

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