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Last update 08 May 2025

Progeroid Syndrome, Congenital, Petty Type

Last update 08 May 2025

Basic Info

Synonyms

CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE, Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

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Introduction

A rare premature aging syndrome with characteristics of pre and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanelle and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

Clinical Trials associated with Progeroid Syndrome, Congenital, Petty Type

JPRN-jRCT2051220177

/ RecruitingPhase 1/2IIT

Double-blind, randomized, controlled trial of EIM-001 administered intramuscularly in patients with Fontaine classification IIb lower extremity atherosclerosis obliterans

Start Date01 Mar 2023

Sponsor / Collaborator-

TCTR20180829001

/ RecruitingNot ApplicableIIT

Practical pain assessment tools for chronic pain patients in Thai circumstance

Start Date20 Aug 2018

Sponsor / Collaborator

Siriraj Hospital

100 Clinical Results associated with Progeroid Syndrome, Congenital, Petty Type

100 Translational Medicine associated with Progeroid Syndrome, Congenital, Petty Type

0 Patents (Medical) associated with Progeroid Syndrome, Congenital, Petty Type

360

Literatures (Medical) associated with Progeroid Syndrome, Congenital, Petty Type

18 Apr 2025·JCEM Case Reports

Familial Paraganglioma Presenting With Acute Coronary Syndrome and Coronary Vasospasm

Article

Author: Puig-Jové, Carlos ; Simó-Servat, Andreu ; García Pascual, Luis ; Barahona, María-José ; Perea, Verónica ; Quirós, Carmen

AbstractFamilial paraganglioma syndrome (FPS) is a rare genetic disorder characterized by the development of paragangliomas (PGLs) and pheochromocytomas (PCCs). Here, we describe the case of a 42-year-old man with a family history of FPS, who presented with episodic chest pain and was diagnosed with acute coronary syndrome secondary to cardiac PGL-induced vasospasm. A thorough review of the family history confirmed several cases of PGLs and PCCs in the immediate family circle. A pathogenic variant in the succinate dehydrogenase (SDH) gene was revealed, elucidating the hereditary nature of the condition. Subsequent gallium (68Ga)-edotreotide positron emission tomography confirmed the presence of multiple lesions with increased uptake consistent with PGLs, including 2 primary cardiac PGLs that may have accounted for a coronary vasospasm due to the secretion of catecholamines.

01 Apr 2025·DEN Open

Proton pump inhibitor‐induced large gastric polyps can regress within 2 months after discontinuation: Experience from two cases

Article

Author: Takahashi, Sakuma ; Yamamoto, Kumiko ; Ishikawa, Shigenao ; Wato, Masaki ; Inaba, Tomoki ; Izumikawa, Koichi ; Nakamura, Satoko ; Colvin, Hugh Shunsuke ; Yamauchi, Kenji ; Kawano, Seiji

AbstractThe long‐term use of proton pump inhibitors (PPIs) can induce fundic gland polyps (FPs) in the stomach, sometimes leading to numerous large FPs (LFPs). Although PPI discontinuation can reduce LFP size and number, the underlying process remains unstudied.A 63‐year‐old woman on esomeprazole (20 mg daily for 10 years) was scheduled for endoscopic LFP removal. After PPI discontinuation, her LFPs regressed to <10 mm within 35 days. A 60‐year‐old male physician on rabeprazole (10 mg daily for 12 years) had LFPs detected via esophagogastroduodenoscopy screening. He opted for weekly esophagogastroduodenoscopy with pathological evaluations to monitor changes post‐discontinuation.One week after PPI withdrawal, gastric juice acidity and viscosity increased, with erosion observed on nearly all LFP surfaces. By day 35, all LFPs regressed and resembled sporadic FPs. This study demonstrated that PPI‐induced LFPs regress within a short period post‐discontinuation and suggests that LFP volume reduction is linked to gastric environment changes, particularly increased acidity.

04 Feb 2025·Microbiology Spectrum

Comparison of positive BioFire FilmArray meningitis/encephalitis (ME) panels, CSF cultures, CSF parameters, clinical presentation and in-patient mortality among patients with bacterial and fungal meningitis

Article

Author: Arora, Vaneet ; Myint, Thein ; Conejo Castillo, Marice Ruiz ; Soria, Jaime ; Ribes, Julie A. ; Gao, Yuanzheng

ABSTRACT The BioFire FilmArray meningitis/encephalitis panel (MEP) was brought to the University of Kentucky in 2016 to aid in the identification of community-acquired meningitis and encephalitis (ME). This panel has shown variable performance with some institutions showing high sensitivity and specificity for many pathogens but others seeing false positives during clinical use. We evaluated the panel’s performance using retrospective chart review of patients at the University of Kentucky from October 2016 to September 2022, including 7,551 MEP results. Cerebrospinal fluid (CSF) samples with positive results for bacterial and fungal pathogens were compared with CSF and blood cultures, other laboratory parameters, and clinical presentations, to classify MEP results as true positive (TP), likely TP, or false positive (FP). Of 132 patients with positive bacterial or fungal MEP results, 48.9% of bacterial and 88.9% of cryptococcal analytes were classified as TP. The positive predictive value (PPV) varied by organism, with the highest being Listeria monocytogenes and Neisseria meningitidis . One-third of the FP results were Streptococcus agalactiae . Among patients with likely TP, 75.7% (28 out of 37) received oral or IV antibiotics before blood or CSF culture. MEP was 100% specific compared to culture. The PPV based on pathogen ranged from 78.6% to 100%. Interestingly, 27.4% (29 out of 106) cases (excluding FPs) would have no pathogen definitively identified if MEP had not been used. This study highlights the utility of MEP in rapidly diagnosing ME, particularly in patients pretreated with antibiotics. It also emphasizes the importance of correlating MEP results with clinical assessments and other diagnostic tests to assure accuracy. IMPORTANCEThis study compares the performance of the meningitis/encephalitis panel (MEP) in detecting bacterial and fungal pathogens with cerebrospinal fluid cultures and other parameters. Almost half of bacterial analytes of MEP had positive cerebrospinal fluid (CSF) or blood cultures; the remaining 42% of bacterial analytes were correlated with clinical presentation and other CSF parameters. 27.4% (29 out of 106) cases would not have had a pathogen definitively identified if the MEP had not been used. This study highlights the importance of using MEP as a diagnostic tool, especially in patients who have already received antibiotics, where traditional culture-based methods may not be diagnostic. This research underscores the use of MEP in improving the speed of diagnosing meningitis. However, it emphasizes that MEP can produce false positive results in some patients. It is therefore necessary to interpret MEP results together with clinical assessments and other diagnostic tests to ensure the most accurate diagnosis.

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Progeroid Syndrome, Congenital, Petty Type

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