Mental Retardation, X-Linked, With Brachydactyly and Macroglossia

Last update 01 Nov 2024

Basic Info

Synonyms

CABEZAS SYNDROME, Cabezas Syndrome, Cabezas X-Linked Mental Retardation Syndrome

+ [20]

Introduction

An X-linked recessive condition caused by mutations(s) in the CUL4B gene on chromosome Xq23, encoding a core component of the E3 ubiquitin ligase complex. It is characterized by short stature, hypogonadism, and abnormal gait.

100 Clinical Results associated with Mental Retardation, X-Linked, With Brachydactyly and Macroglossia

100 Translational Medicine associated with Mental Retardation, X-Linked, With Brachydactyly and Macroglossia

0 Patents (Medical) associated with Mental Retardation, X-Linked, With Brachydactyly and Macroglossia

Literatures (Medical) associated with Mental Retardation, X-Linked, With Brachydactyly and Macroglossia

01 Oct 2024·The Journal of Dermatology

Cross‐sectional study using the University of California, Los Angeles, Scleroderma Clinical Trials Consortium Gastrointestinal Tract Instrument 2.0 (UCLA SCTC GIT 2.0) for gastrointestinal disorders of systemic sclerosis

Article

Author: Takeuchi, Saki ; Ito, Yumi ; Hisada, Satoko ; Kodera, Masanari ; Yamada, Yoshihiro ; Tozawa, Takahisa

AbstractThis study aimed to identify severe gastrointestinal ailments in patients with systemic sclerosis (SSc), investigate the role of antibodies in gastrointestinal disorders, and explore the relationship between limited cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc) in terms of gastrointestinal involvement and its association with skin stiffness. We used the University of California, Los Angeles, Scleroderma Clinical Trials Consortium Gastrointestinal Tract Instrument 2.0 (UCLA SCTC GIT 2.0) questionnaire to assess gastrointestinal disturbances in 100 patients with SSc. Gastrointestinal impairment was categorized into three levels: absence of or minor symptoms, moderate symptoms, and severe symptoms, as indicated by the total gastrointestinal tract (GIT) score. Comparing 27 patients with dcSSc and 73 patients with lcSSc, severe gastrointestinal disturbances were found in 7.4% of patients with dcSSc and 4.1% of patients with lcSSc. A total of 18.0% of anticentromere antibody (ACA)–positive patients exhibited moderate to severe symptoms, while 9.1% of antitopoisomerase 1 antibody–positive patients displayed similar symptoms. The average disease duration in patients with severe symptoms was 15.0 years, in those with moderate symptoms was 10.3 years, and in those who were symptom‐free or mildly affected was 8.5 years. Among 16 patients with moderate to severe gastrointestinal disorders, a positive correlation was observed between the modified Rodnan skin thickness score (mRSS) and total GIT score. In addition, a positive correlation was identified between fecal incontinence and mRSS, with weaker correlations for reflux and bloating symptoms. Patients with gastrointestinal disorders showed a tendency to worsen over time, particularly in ACA‐positive patients with dcSSc. Furthermore, a correlation was observed between mRSS and fecal incontinence, reflux, and abdominal bloating in patients with moderate to severe gastrointestinal disturbances.

01 Sep 2024·RMD Open

Development of a multivariable prediction model for progression of systemic sclerosis-associated interstitial lung disease

Article

Author: Toenges, Gerrit ; Distler, Oliver ; Smith, Vanessa ; Avouac, Jerôme ; Kuwana, Masataka ; Hoffmann-Vold, Anna-Maria ; Alves, Margarida

ObjectiveTo develop a multivariable model for predicting the progression of systemic sclerosis-associated interstitial lung disease (SSc-ILD) over 52 weeks.MethodsWe used logistic regression models to analyse associations between candidate predictors assessed at baseline and progression of SSc-ILD (absolute decline in forced vital capacity (FVC) % predicted >5% or death) over 52 weeks in the placebo group of the SENSCIS trial. Analyses were performed in the overall placebo group and in a subgroup with early and/or inflammatory SSc and/or severe skin fibrosis (<18 months since first non-Raynaud symptom, elevated inflammatory markers, and/or modified Rodnan skin score (mRSS) >18) at baseline. Model performance was assessed using the area under the receiver operating characteristic curve (AUC).ResultsIn the overall placebo group (n=288), the performance of the final multivariable model for predicting SSc-ILD progression was moderate (apparent AUC: 0.63). A stronger model, with an apparent AUC of 0.75, was developed in the subgroup with early and/or inflammatory SSc and/or severe skin fibrosis at baseline (n=155). This model included diffusing capacity of the lung for carbon monoxide (DLco) % predicted, time since first non-Raynaud symptom, mRSS, anti-topoisomerase I antibody status and mycophenolate use.ConclusionPrediction of the progression of SSc-ILD may require different approaches in distinct subgroups of patients. Among patients with SSc-ILD and early and/or inflammatory SSc and/or severe skin fibrosis, a nomogram based on a multivariable model may be of value for identifying patients at risk of short-term progression.

01 May 2024·The Journal of Dermatology

Clinical features of patients with connective tissue disease with anti–human upstream binding factor antibodies: A single‐center retrospective study

Article

Author: Kitano, Tasuku ; Sawada, Kaori ; Mizumaki, Kie ; Maeda, Shintaro ; Horii, Motoki ; Fushida, Natsumi ; Fujii, Ko ; Watanabe, Satoshi ; Matsushita, Takashi ; Hamaguchi, Yasuhito ; Oishi, Kyosuke ; Numata, Natsuki

AbstractAnti–human upstream‐binding factor (anti‐hUBF) antibodies have been reported predominantly in patients with connective tissue diseases (CTDs); these have also been reported in patients without CTDs such as hepatocellular carcinoma. Because of the low frequency of expression and few case reports, there is no consensus on the clinical significance of these antibodies. Thus, we aimed to examine the clinical features of patients with anti–hUBF antibodies and analyzed 1042 patients with clinically suspected CTDs. The presence of anti–hUBF antibodies was screened using immunoprecipitation assays. Of the 1042 patients, 19 (1.82%) tested positive for anti–hUBF antibodies; among them, 10 (56%) were diagnosed with undifferentiated CTD (UCTD), six with systemic sclerosis (SSc) and three with other diseases. Five of the 10 patients with UCTD were referred to our hospital with suspected SSc. None of the five patients fulfilled the 2013 American College of Rheumatology/European League Against Rheumatism classification criteria, but three scored seven points, a relatively high score. Six anti–hUBF‐positive patients with SSc had a significantly lower modified Rodnan skin score (mRSS) than that of anti–hUBF‐negative patients with SSc (2 [0–2] vs 7 [0–49], p < 0.01). Compared with anti–topoisomerase I‐positive patients, anti–hUBF‐positive patients had a significantly lower mRSS (2 [0–2] vs 13 [0–42], p < 0.01) and lower incidence of scleroderma renal crisis (0 of 6 vs 8 of 184, p < 0.01). Compared with anti–centromere‐positive patients, anti–hUBF‐positive patients had a higher incidence of interstitial lung disease (ILD), but the difference was not statistically significant (4 of 6 vs 19 of 239). In conclusion, anti–hUBF antibodies were predominantly detected in patients with CTDs and UCTD. In patients with CTDs, SSc exhibited a high ratio, displaying a lower mRSS and higher incidence of ILD. In patients with UCTD, careful follow‐up is recommended as they may develop CTDs in the future.

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Mental Retardation, X-Linked, With Brachydactyly and Macroglossia

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