Acropectorovertebral Dysplasia, F-Form

Last update 08 May 2025

Basic Info

Synonyms

ACROPECTOROVERTEBRAL DYSPLASIA, ACRPV, Acropectorovertebral Dysplasia, F-Form

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Introduction

A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36.

Clinical Trials associated with Acropectorovertebral Dysplasia, F-Form

DRKS00035300

/ RecruitingNot ApplicableIIT

Evaluation of the Cross-Clinic Initiative Stark im Sturm - Support for Children of Parents with Substance Use Disorders and Other Mental Illnesses

Start Date27 Nov 2024

Sponsor / Collaborator

Zentralinstitut für Seelische Gesundheit

100 Clinical Results associated with Acropectorovertebral Dysplasia, F-Form

100 Translational Medicine associated with Acropectorovertebral Dysplasia, F-Form

0 Patents (Medical) associated with Acropectorovertebral Dysplasia, F-Form

Literatures (Medical) associated with Acropectorovertebral Dysplasia, F-Form

26 Sep 2024·Microbiology and Molecular Biology Reviews

The biology and pathogenicity of Clostridium perfringens type F: a common human enteropathogen with a new(ish) name

Review

Author: Navarro, Mauricio ; McClane, Bruce A ; Uzal, Francisco A ; Shrestha, Archana ; Mehdizadeh Gohari, Iman ; Li, Jihong

SUMMARY In the 2018-revised Clostridium perfringens typing classification system, isolates carrying the enterotoxin ( cpe ) and alpha toxin genes but no other typing toxin genes are now designated as type F. Type F isolates cause food poisoning and nonfoodborne human gastrointestinal (GI) diseases, which most commonly involve type F isolates carrying, respectivefooly, a chromosomal or plasmid-borne cpe gene. Compared to spores of other C. perfringens isolates, spores of type F chromosomal cpe isolates often exhibit greater resistance to food environment stresses, likely facilitating their survival in improperly prepared or stored foods. Multiple factors contribute to this spore resistance phenotype, including the production of a variant small acid-soluble protein-4. The pathogenicity of type F isolates involves sporulation-dependent C. perfringens enterotoxin (CPE) production. C. perfringens sporulation is initiated by orphan histidine kinases and sporulation-associated sigma factors that drive cpe transcription. CPE-induced cytotoxicity starts when CPE binds to claudin receptors to form a small complex (which also includes nonreceptor claudins). Approximately six small complexes oligomerize on the host cell plasma membrane surface to form a prepore. CPE molecules in that prepore apparently extend β-hairpin loops to form a β-barrel pore, allowing a Ca 2+ influx that activates calpain. With low-dose CPE treatment, caspase-3-dependent apoptosis develops, while high-CPE dose treatment induces necroptosis. Those effects cause histologic damage along with fluid and electrolyte losses from the colon and small intestine. Sialidases likely contribute to type F disease by enhancing CPE action and, for NanI-producing nonfoodborne human GI disease isolates, increasing intestinal growth and colonization.

01 Jan 2023·Therapeutic Advances in Neurological Disorders

Therapeutic plasma exchange in the management of stiff person syndrome spectrum disorders: a case series and review of the literature

Article

Author: Hu, Chen ; Patel, Eshan U. ; Wang, Yujie ; Mercure-Corriveau, Nicolas ; Zhu, Xianming ; Bloch, Evan M. ; Obando, Danielle ; Crowe, Elizabeth P. ; Newsome, Scott D. ; Tobian, Aaron A. R. ; Roy, Shuvro

Background: Stiff person syndrome spectrum disorders (SPSD) are a rare group of disabling neuroimmunological disorders. SPSD often requires immune therapies, especially in the setting of inadequate response to symptomatic treatments. The safety and efficacy of therapeutic plasma exchange (TPE) in SPSD remains uncertain. Objectives: To describe the safety, tolerability, and efficacy of TPE in patients with SPSD. Design: A retrospective observational study. Methods: A retrospective review of SPSD patients seen at Johns Hopkins Hospital (JHH) from 1997 to 2021 was performed. Patient demographics/history, examination/diagnostic findings, treatment response, and TPE-related complications were recorded. Assessment for any associations between clinical characteristics, including age, sex, clinical phenotype, and time on immunotherapy, and response to TPE 3 months after treatment was performed. A subgroup of 18 patients treated with TPE at JHH and 6 patients treated with TPE at outside institutions were evaluated for any change in usage of symptomatic medications 3 months after the TPE treatment. Literature review of SPSD and TPE was also conducted. Results: Thirty-nine SPSD patients were treated with TPE (21 at JHH and 18 at outside institutions); median age 48 years, 77% female, median modified Rankin Scale 3; mean initial anti-GAD65 antibody titer was 23,508 U/mL. Twenty-four patients (62%) had classic SPS, 10 (26%) had SPS-plus, 2 (5%) had progressive encephalomyelitis with rigidity and myoclonus, and 3 (8%) had pure cerebellar ataxia. All patients were on symptomatic treatments, 30 (77%) previously received IVIg, and 3 (8%) previously received rituximab. Four patients (10%) had a TPE-related adverse event. One developed asymptomatic hypotension, another had both line thrombosis and infection, and two had non-life-threatening bleeding events. Twenty-three (59%) patients reported improvement in symptoms after TPE. Of the subgroup of 24 patients evaluated for any change in usage of symptomatic medications 3 months after the TPE treatment, 14 (58%) required fewer GABAergic symptomatic medications. Literature review identified 57 additional patients with SPSD; 43 (75%) reported temporary improvement after TPE. Conclusion: The majority of patients treated with TPE had improvement. Moreover, most patients evaluated for any change in usage of symptomatic medications after the TPE treatment no longer required as much symptomatic medications months after TPE. TPE appears safe and well-tolerated in SPSD. Further studies are needed to assess the long-term efficacy of TPE in SPSD and identify which patients may benefit the most from TPE.

01 Dec 2022·Environmental Geochemistry and Health

Potential fluoride exposure from selected food crops grown in high fluoride soils in the Makueni County, south-eastern Kenya

Article

Author: Dowling, Kim ; Mouri, Hassina ; Cave, Mark ; Gikuma-Njuru, Peter ; Gevera, Patrick Kirita

AbstractMakueni County, located in south-eastern Kenya, faces challenges such as limited potable water and restricted food supplies as the result of semi-aridity. High fluoride (F) concentrations have been reported in drinking water with resultant dental fluorosis affecting the local population. To determine the potential F exposure through the consumption of food crops grown in the area, F concentration was assessed in the main five locally grown and consumed crops. Additionally, the water-soluble F fraction was determined from 30 soil samples with mineralogical determination of 20 samples. Mean F concentration in the food crops was in the order; 700, 288, 71.2, 36.6, and 29 mg/kg in kale, cowpeas leaves, green grams, cowpeas (legume portion), and maize, respectively. The F concentration in farm soils ranged from 0 to 3.47 mg/kg (mean of 0.87 mg/kg) and showed a significant strong positive correlation (p = 0.03, r = 0.89) with F values in the crops. Apatite, muscovite, and biotite were identified as the F-rich minerals present. While considering two hypothetical F absorption fractions (75 and 100%), the estimated average daily dose (EADD) of F from consuming the crops ranged between 0.004 and 65.17 mg/kg/day where the highest values were from the vegetables. Most of these values were higher than the F reference dose (RfD) of 0.06 mg/kg. The estimated EADD values of several hypothetical meals prepared from the analyzed crops revealed that steamed kale and maize porridge pose the highest health risk of F associated diseases to the local population, whereas boiled cowpeas pose no health risk. Children, due to their higher daily energy requirement and low body weight, were the most vulnerable group at risk of high daily F intake relative to the RfD. These results suggest that consumption of the analyzed food crops in Makueni County may significantly contribute to F related diseases in the local population. This creates a food security issue for the area because of the potential health risks associated with these crops which are highly relied upon in the semi-arid area with a limited selection of food crops available and viable to grow.

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