更新于：2024-09-05

Ischiopatellar Dysplasia

坐骨跖骨发育不良

更新于：2024-09-05

基本信息

别名

COXOPODOPATELLAR SYNDROME、Coxopodopatellar Syndrome、Coxopodopatellar syndrome

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简介

A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features.

关联

项与坐骨跖骨发育不良相关的临床试验

NCT04956757 / CompletedN/AIIT

Investigating the Effect of Scapula Retraction Exercises on Acromiohumeral Distance Values and Symptoms (Pain and Disability) in Patients With SPS

Scapula retraction exercises are often recommended as a part of the exercise programs. The primary aim of this study is to investigate the initial effect of the scapula retraction exercises on acromiohumeral distance (AHD) at varying shoulder abduction angles and to compare asymptomatic subjects. The secondary aim of this study is to investigate the effect of scapula retraction exercises on AHD values and symptoms (pain and disability) in patients with SPS.

开始日期2021-07-30

申办/合作机构

Hacettepe University

NCT03669237 / CompletedN/AIIT

A Randomized Study From Single Institutions on Postoperative Bowel Function Following Sphincter Preservation Surgery in Patients With Rectal Cancer by Different Reconstruction Methods

Colorectal cancer is one of the most common malignant tumors in the world. Surgery is still the main treatment for rectal cancer. With the popularization of stapler technology and the application of preoperative neoadjuvant therapy, more and more patients with rectal cancer have treated sphincter preservation surgery for rectal cancer. postoperative observation found that some patients with rectal cancer anus-preserving surgery had different degrees of defecation dysfunction after surgery, such as incontinence, tightness, increased frequency of bowel movements, and constipation. These clinical symptoms have been classified as "Low anterior resection syndrome (LARS)" in recent years.Now there is no treatment for LARS.Meanwhile,J-pouch and side-to-end anastomosis can help the patients,but there is few trials can prove this.This trial means to prove weather side-to-end anastomosis can improve bowel of rectal patients afer surgery.

开始日期2018-10-12

申办/合作机构

北京大学人民医院

NCT03494192 / CompletedN/AIIT

Utilizing Scapula Retraction Exercises With or Without Glenohumeral Rotational Exercises With a Gradual Progression: A Double-Blind Randomized Controlled Trial for Subacromial Pain Syndrome

Abnormal reduction of the AHD has been considered as one of the possible mechanisms in the aetiology of subacromial pain syndrome. Maintenance of the AHD is crucial for prevention and rehabilitation of rotator cuff related disorders.
The development of a rehabilitation treatment plan is based in part on the assessment of scapular motion and muscle deficits in patients with shoulder pain. Rehabilitation should be based on the identified impairments.
The aim of this study is to investigate the effect of utilizing scapula retraction exercises with or without glenohumeral rotational exercises at gradual shoulder elevation angles into a scapular stabilization program on functionality, pain and AHD in patients with SPS and compare with health population.

开始日期2018-08-01

申办/合作机构

Hacettepe University

100 项与坐骨跖骨发育不良相关的临床结果

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100 项与坐骨跖骨发育不良相关的转化医学

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0 项与坐骨跖骨发育不良相关的专利（医药）

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1,417

项与坐骨跖骨发育不良相关的文献（医药）

2024-03-01·Neurology(R) neuroimmunology & neuroinflammation

Severe Stiff-Person Syndrome After COVID.

Article

作者: Marinos C Dalakas

OBJECTIVES:

To describe a patient with mild GAD-positive stiff-leg syndrome (SLS) who developed severely disabling stiff-person syndrome (SPS) 1 week after mild COVID-19 and discuss the impact of viral implications.

METHODS:

Video-documented serial clinical observations at baseline, after acute COVID-19, and after IVIG treatments.

RESULTS:

A 39-year-old man with left-SLS was stable during a 2-year follow-up with low-dose antispasmodics, working fully and functioning normally, even able to run. One week after mild COVID-19, he started to experience generalized SPS symptomatology that steadily worsened the following 2-3 weeks, becoming unable to walk, requiring a walker, with significant thoracolumbar and bilateral leg stiffness and spasms. GAD ab were very high. After 3 monthly IVIg infusions he showed improvements, but his gait remains significantly stiff. All clinical changes, from baseline to post-Covid, and then post- IVIg have been video-documented.

DISCUSSION:

This is the first, clearly documented, severe GAD-positive SPS after COVID-19. Although viral or postviral causation can be incidental, the temporal connection with acute COVID-19, the severe disease worsening after symptom-onset, and the subsequent steady improvement after IVIg, suggest viral-triggered autoimmunity. Because COVID-19 reportedly can trigger or worsen GAD-associated diabetes type 1 through proinflammatory mediators, and SPS has been reportedly triggered by West Nile Virus, possibly through molecular mimicry, this case of acutely converting GAD-SLS to GAD-SPS suggest the need to explore viral etiologies in patients with GAD-SPS experiencing acute, long-lasting episodic exacerbations of stiffness and spasms.

2024-03-01·Neurology(R) neuroimmunology & neuroinflammation

Glycine Receptor β-Targeting Autoantibodies Contribute to the Pathology of Autoimmune Diseases.

Article

作者: Anna-Lena Wiessler ; Ivan Talucci ; Inken Piro ; Sabine Seefried ; Verena Hörlin ; Betül B Baykan ; Erdem Tüzün ; Natascha Schaefer ; Hans M Maric ; Claudia Sommer ; Carmen Villmann

BACKGROUND AND OBJECTIVES:

Stiff-person syndrome (SPS) and progressive encephalomyelitis with rigidity and myoclonus (PERM) are rare neurologic disorders of the CNS. Until now, exclusive GlyRα subunit-binding autoantibodies with subsequent changes in function and surface numbers were reported. GlyR autoantibodies have also been described in patients with focal epilepsy. Autoimmune reactivity against the GlyRβ subunits has not yet been shown. Autoantibodies against GlyRα1 target the large extracellular N-terminal domain. This domain shares a high degree of sequence homology with GlyRβ making it not unlikely that GlyRβ-specific autoantibody (aAb) exist and contribute to the disease pathology.

METHODS:

In this study, we investigated serum samples from 58 patients for aAb specifically detecting GlyRβ. Studies in microarray format, cell-based assays, and primary spinal cord neurons and spinal cord tissue immunohistochemistry were performed to determine specific GlyRβ binding and define aAb binding to distinct protein regions. Preadsorption approaches of aAbs using living cells and the purified extracellular receptor domain were further used. Finally, functional consequences for inhibitory neurotransmission upon GlyRβ aAb binding were resolved by whole-cell patch-clamp recordings.

RESULTS:

Among 58 samples investigated, cell-based assays, tissue analysis, and preadsorption approaches revealed 2 patients with high specificity for GlyRβ aAb. Quantitative protein cluster analysis demonstrated aAb binding to synaptic GlyRβ colocalized with the scaffold protein gephyrin independent of the presence of GlyRα1. At the functional level, binding of GlyRβ aAb from both patients to its target impair glycine efficacy.

DISCUSSION:

Our study establishes GlyRβ as novel target of aAb in patients with SPS/PERM. In contrast to exclusively GlyRα1-positive sera, which alter glycine potency, aAbs against GlyRβ impair receptor efficacy for the neurotransmitter glycine. Imaging and functional analyses showed that GlyRβ aAbs antagonize inhibitory neurotransmission by affecting receptor function rather than localization.

2024-03-01·Neurology(R) neuroimmunology & neuroinflammation

Successful Autologous Hematopoietic Stem Cell Transplant in Glycine Receptor Antibody-Positive Stiff Person Syndrome.

Article

作者: Sofia I Celli ; Richard Nash ; Kelli M Money ; Madeline Garza ; Tyler L Borko ; Christopher Mizenko ; Constance McMenamin ; Gloria Von Geldern ; George Georges ; Amanda L Piquet

BACKGROUND AND OBJECTIVES:

To describe a case of glycine receptor (GlyR) antibody-positive stiff person syndrome (SPS) treated with autologous hematopoietic stem cell transplant (aHSCT).

METHODS:

This was a multicenter collaboration for the treatment of a single patient who underwent aHSCT as part of a clinical trial (NCT00716066). To objectively assess the response to transplantation, several clinical outcome measures were evaluated pretransplant and up to 18 months post-transplant, including modified Rankin Score (mRS), stiffness index, Hauser Ambulation Score (HAS), hypersensitivity index, timed 25-foot walk, and Montreal Cognitive Assessment.

RESULTS:

After transplant, the patient achieved sustained clinical improvement evidenced across various clinical scales, including mRS, stiffness index, HAS, and 25-foot walk time.

DISCUSSION:

aHSCT represents a promising treatment option for SPS, including for GlyR-positive patients. In addition, this case represents the need to validate and standardize best clinical outcome measures for patients with SPS.

CLASSIFICATION OF EVIDENCE:

Class IV; this is a single observational study without controls.

项与坐骨跖骨发育不良相关的新闻（医药）

2023-05-05

·BioSpace

Aditxt Subsidiary Adimune Signs Clinical Trial Agreement with Top Research Institution to Study Stiff Person Syndrome

Adimune, Inc. is nearing completion of its pre-clinical package for the immunotherapy clinical study drug candidate ADI-100 Collaboration will initially target Stiff Person Syndrome, a rare, central nervous system disease frequently associated with other autoimmune diseases such as type-1 diabetes Clinical trial at Mayo Clinic is planned with enrollment of approximately 10-15 patients RICHMOND, Va.--(BUSINESS WIRE)--Aditxt, Inc. (NASDAQ: ADTX) (“Aditxt” or the “Company”), a global innovation company focused on therapeutics and technologies that modulate and monitor the immune system, today announces that its subsidiary Adimune™, Inc. (“Adimune”), has signed a clinical trial agreement with Mayo Clinic to advance clinical studies targeting autoimmune diseases of the central nervous system (“CNS”) with the initial focus on the rare, but debilitating, autoimmune disease Stiff Person Syndrome (“SPS”). Adimune was founded earlier this year to lead Aditxt’s immune modulation therapeutic programs. For the past 18 months, Aditxt has been preparing to launch its first immune modulation product candidate, ADI™-100, targeting several clinical trials to demonstrate its safety and indications of efficacy. ADI-100 is designed to tolerize against an antigen known as glutamic acid decarboxylase (“GAD”), which is implicated in type-1 diabetes, psoriasis, and in many autoimmune diseases of the CNS. “We are extremely pleased about having the opportunity to work with Mayo Clinic on trying to restore immune tolerance in patients suffering from devastating progressive autoimmune central nervous system disorders,” said Dr. Joachim Friedrich Kapp, the co-CEO of Adimune. “The collaboration will include both pre-clinical and clinical studies and builds on Adimune’s current efforts to advance the full pre-clinical and clinical programs of ADI-100. We believe that the pre-clinical studies will help us to expand on the understanding of the technology, specifically the mechanism of action which induces antigen-specific immune tolerance without impairing the responsiveness of the immune system to fight infections and cancers.” Adimune plans to initiate clinical studies using ADI-100, targeting autoimmune diseases of the CNS that are mediated by GAD, starting with SPS. According to the National Organization of Rare Diseases, the exact incidence and prevalence of SPS is unknown; however, one estimate places the incidence at approximately 1 in 1 million individuals in the general population. The clinical trial is expected to begin in 2023 with enrollment of approximately 10-15 patients, some of whom may also suffer from type-1 diabetes. “With autoimmune disorders of the central nervous system, including multiple sclerosis and other rare diseases affecting millions of people, this step supports our mission of ‘Making Promising Innovations Possible, Together,’” says Adimune Co-CEO and Aditxt Co-Founder, CEO and Chairman, Amro Albanna. About Aditxt, Inc. Aditxt®, Inc. (NASDAQ: ADTX) is a global innovation company focused on therapeutics and technologies that monitor and modulate the immune system. Headquartered in Richmond, Virginia, with operations in Silicon Valley, California, and New York, New York. Aditxt’s mission “Making Promising Innovations Possible, Together” is defined by our growing ecosystem of research institutions, global industry partners and shareholders who inform and inspire our mission. Aditxt’s diverse innovation portfolio includes: Adimune™, Inc., aimed at developing and designing a new class of therapeutics for retraining the immune system to address organ rejection, autoimmunity, and allergies; Adivir™, Inc., focused on identifying, developing and commercializing new ways to treat infectious diseases; and Pearsanta, Inc., which intends to offer personalized immune monitoring for a wide range of health conditions, including hereditary cancer, wounds and cardiomyopathy. For more information, visit the Company’s websites at , and Follow us on LinkedIn for the latest company news. Forward-Looking Statements Certain statements in this press release constitute "forward-looking statements" within the meaning of federal securities laws. Forward-looking statements include statements regarding the Company's intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the Company's ongoing and planned product and business development; the Company’s ability to secure the capital necessary to satisfy its obligations under the clinical trial agreement with the Mayo Clinic; the Company’s ability to enroll qualifying patients in the study; the Company's intellectual property position; the Company's ability to develop commercial functions; expectations regarding product launch and revenue; the Company's results of operations, cash needs, spending, financial condition, liquidity, prospects, growth and strategies; the industry in which the Company operates; and the trends that may affect the industry or the Company. Forward-looking statements are not guarantees of future performance and actual results may differ materially from those indicated by these forward-looking statements as a result of various important factors, as well as market and other conditions and those risks more fully discussed in the section titled "Risk Factors" in the Company's most recent Annual Report on Form 10-K, as well as discussions of potential risks, uncertainties, and other important factors in the Company's other filings with the Securities and Exchange Commission. All such statements speak only as of the date made, and the Company undertakes no obligation to update or revise publicly any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

免疫疗法临床研究