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Last update 08 May 2025

Mental Retardation, X-Linked, Syndromic 5

Last update 08 May 2025

Basic Info

Synonyms

Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures, Dandy-Walker malformation-basal ganglia disease-seizures syndrome, MENTAL RETARDATION, X-LINKED, SYNDROMIC 21

+ [20]

Introduction

A rare, X-linked inherited syndrome characterized by mental retardation and additional features, which include choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain.

Clinical Trials associated with Mental Retardation, X-Linked, Syndromic 5

NCT01194531

/ TerminatedPhase 4

IPSO Trial - Impact of Parental Support on Pregnancy Outcomes: A Multi-Center, Randomized, Open-Label Study to Evaluate the Implantation and Pregnancy Rates Following 24 Chromosome Aneuploidy Screening With Parental Support in Patients Undergoing In Vitro Fertilization (IVF)

Natera is recruiting patients for a research study evaluating pregnancy and implantation rates in women undergoing In Vitro Fertilization (IVF) and Preimplantation Genetic Screening (PGS). PGS is also referred to as Preimplantation Genetic Diagnosis (PGD) for aneuploidy.
Healthy women undergoing IVF who are between the ages of 35 to 42 years are being recruited to participate in a randomized study.
The purpose of this study is to determine whether PGS- testing of embryos created during IVF for chromosomal abnormalities, prior to transfer to the uterus- improves pregnancy and implantation rates in patients when compared to patients whose embryos are not tested. PGS will be conducted using 24 Chromosome Aneuploidy Screening with Parental Support from Natera.
All subjects who qualify and enroll will receive discounted IVF medications (both TEST and CONTROL arms). If you become pregnant during the study, you will receive a small payment for providing information about your pregnancy and birth. If you are assigned to the TEST arm of the study you will receive free PGS.

Start Date01 Sep 2010

Sponsor / Collaborator

Natera, Inc.

[+1]

NL-OMON23652

/ CompletedNot ApplicableIIT

Among IVF-ICSI patients with poor implantation, does PGS increase pregnancy rates and live birth rates?

Start Date01 Nov 2001

Sponsor / Collaborator-

100 Clinical Results associated with Mental Retardation, X-Linked, Syndromic 5

100 Translational Medicine associated with Mental Retardation, X-Linked, Syndromic 5

0 Patents (Medical) associated with Mental Retardation, X-Linked, Syndromic 5

422

Literatures (Medical) associated with Mental Retardation, X-Linked, Syndromic 5

31 Dec 2025·Annals of Medicine

Impact of parathyroid gland classification on hypoparathyroidism following total thyroidectomy with central neck dissection for differentiated thyroid cancer

Article

Author: Zhang, Ping ; Wang, Bin ; Sheng, Qixuan ; Li, Wei ; Shan, Chengxiang ; Zhang, Wei ; Xu, Xinyun ; Rao, Wensheng ; Wang, Qiang ; Zha, Siluo ; Qiu, Ming

OBJECTIVETo assess the impact of parathyroid gland (PG) classification on hypoparathyroidism incidence following total thyroidectomy (TT) with central neck dissection (CND) in patients with differentiated thyroid carcinoma (DTC).METHODSIn this prospective cohort study, adult patients with DTC who underwent TT with CND between 2021 and 2023 were enrolled, with a maximum follow-up duration of 32 months. A simplified PG classification system was employed, categorizing glands into four distinct types: tightly connected, loosely connected, non-connected, and thymic. The intraoperative frequency of each PG type was recorded based on this classification. Parathyroid hormone (PTH) levels were routinely tested 1 day, 1 month, 6 months and 1 year after surgery. The association between PG classification and the incidence of postoperative hypoparathyroidism was then systematically analysed.RESULTSAmong 135 patients with DTC (mean age: 48.50 ± 10.52 years; 101 women), 62 patients (45.93%) developed hypoparathyroidism on postoperative day 1 (POD1), while 14 patients (10.37%) experienced hypoparathyroidism on postoperative month 1 (POM1). All patients exhibited PTH normalization within six months, with no permanent hypoparathyroidism cases. A total of 532 PGs were identified: 264 (49.62%) were tightly connected, 150 (28.20%) loosely connected, 95 (17.86%) non-connected, and 23 (4.32%) thymic. The highest prevalence of hypoparathyroidism on POD1 was observed in patients with four tightly connected PGs (p < 0.001). Patients with four tightly connected PGs had a significantly greater incidence of hypoparathyroidism than those with none (p = 0.024). Regression analysis revealed that each additional tightly connected PG increased the risk of hypoparathyroidism by 1.38 times (p = 0.019). Tightly connected PGs demonstrated predictive value for POD1 hypoparathyroidism (AUC = 0.604, cut-off: two tightly connected glands). In contrast, thymic PGs did not provide a protective effect.CONCLUSIONPG classification may serve as a valuable tool for surgeons in intraoperative parathyroid preservation and the prediction of postoperative hypoparathyroidism in patients with DTC. Notably, DTC patients with more than two tightly connected PGs are at an elevated risk of developing temporary hypoparathyroidism, emphasizing the importance of meticulous parathyroid preservation during surgical procedures.

31 Dec 2025·European Journal of Psychotraumatology

Emotional vs. social loneliness and prolonged grief: a random-intercept cross-lagged panel model

Article

Author: O’Connor, Maja ; Vedder, Anneke ; Boelen, Paul A.

Background: Bereavement following death, with loneliness as a prominent feature, can result in enduring stress and compromised health.Objective: Building on Weiss's ([1973]. Loneliness: The experience of emotional and social isolation. MIT Press) proposal of two distinct types of loneliness, this study investigated within-person associations between emotional loneliness (EL) and prolonged grief symptoms (PGS) (aim 1), as well as social loneliness (SL) and PGS (aim 2) over four years following spousal loss. Additionally, we examined the impact of gender, age, and education on the main factors.Methods: We used random-intercept cross-lagged panel modelling (RI-CLPM) to analyse self-reported data from 338 Danish spousal-bereaved adults (58% female; mean age = 72.1; range 65-81 years) on EL and SL (single-item questions) and PGS (Inventory of Complicated Grief, short version) at 6, 13, 18, and 48 months post-loss.Results: We found (1) within-person associations between EL and PGS; (2) no within-person associations between SL and PGS. In our model, PGS predicted EL over time, with no reciprocal effect. In contrast, PGS and SL were unrelated. Age did not link with EL, SL, or PGS. More years of education were associated with less EL and SL, but not with PGS. Gender influenced the association between SL and PGS.Conclusions: This study enhances our understanding of longitudinal, within-person associations between EL, SL, and PGS. Consistent with Weiss's (1973) relational theory of loneliness in widowhood, results highlight the unique role of EL. While replication is needed due to limitations like single-item measures and varying intervals, these findings emphasize EL's importance in widowhood and offer a basis for better understanding and addressing PGS. Monitoring the relationship between loneliness and grief may help healthcare providers offer timely, targeted interventions.

01 Jun 2025·Auris Nasus Larynx

The impact of detecting and autotransplanting parathyroid gland with near-infrared imaging during total laryngectomy with total thyroidectomy

Article

Author: Yokoyama, Yusuke ; Ohshima, Shusuke ; Tanaka, Ryoko ; Saijo, Kohei ; Takahashi, Yuto ; Takahashi, Takeshi ; Yamazaki, Keisuke ; Otaki, Kohei ; Ueki, Yushi ; Shodo, Ryusuke ; Matsuyama, Hiroshi ; Horii, Arata ; Omata, Jo

OBJECTIVEPersistent postoperative hypoparathyroidism (hypoPT) after total thyroidectomy (TT) is a serious complication necessitating lifelong treatment. HypoPT would be more serious when combined with total laryngectomy (TL), since in situ preservation nor autotransplantation of parathyroid glands (PGs) is not always attempted. This study examined the accuracy of identifying PGs using near-infrared fluorescence imaging (NIFI) and assessed the oncological safety and impact of PG autotransplantation on hypoPT in TL+TT.METHODSThis prospective study was conducted between June 2020 and November 2023 at three hospitals in Niigata, Japan. Twelve patients who underwent TL+TT were included. Specimens were evaluated for autofluorescence (AF) using NIFI ex vivo followed by histological examination. Levels of albumin-corrected calcium and intact parathyroid hormone (PTH) were monitored postoperatively.RESULTSTwenty-nine AF-positive tissues were identified as possible PGs using NIFI. Histological examination revealed that 27 were PGs and 2 were adipose tissues: 0-5 (median=2) PGs were autotransplanted per patient. All 272 tissues isolated as lymph nodes by the surgeon's visual inspection were negative for AF, none of which were PGs by histological examinations. Therefore, NIFI exhibited 100 % sensitivity and 99 % specificity for PG identification. The rate of persistent postoperative hypoPT was 33 % (4/12). After a median follow-up of 42 months (range 16-54 months), no tumor recurrence was observed in the sites of parathyroid autotransplantation.CONCLUSIONThis study demonstrated the high accuracy of NIFI in identifying PGs during TL+TT. PG autotransplantation with NIFI assistance emerged as a viable technique for mitigating postoperative hypoPT in TL+TT procedures.

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Mental Retardation, X-Linked, Syndromic 5

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