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Last update 23 Jan 2025

Ablepharon Macrostomia Syndrome

Last update 23 Jan 2025

Basic Info

Synonyms

ABLEPHARON-MACROSTOMIA SYNDROME, AMS, Ablepharon macrostomia syndrome

+ [5]

Introduction

An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation.

Drugs associated with Ablepharon Macrostomia Syndrome

Compound danshen dripping pills

Target-

Mechanism-

Active Org.

Tasly Pharmaceutical Group Co., Ltd. [+1]

Originator Org.

Tasly Pharmaceutical Group Co., Ltd.

Active Indication

Diabetic Retinopathy [+3]

Inactive Indication

Angina, Stable

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

CN [+6]

First Approval Date01 Jan 1994

Clinical Trials associated with Ablepharon Macrostomia Syndrome

NCT05023941

/ CompletedPhase 4IIT

Optimization Strategy for the Prevention of Acute Mountain Sickness by Remote Ischemic Preconditioning Combined With Acetazolamide

The primary objective of the study will be to determine whether rapid remote limb ischemic preconditioning (RIPC) combined with acetazolamide can further reduce the incidence of acute mountain sickness (AMS) during the 6-hour hypoxic chamber.

Start Date01 Dec 2021

Sponsor / Collaborator

Capital University of Medical Sciences

CTR20212354

/ RecruitingPhase 3

一项评估T89预防和治疗急进高原期间急性高原反应（AMS）的安全性和有效性的多中心、双盲、随机和安慰剂对照的关键三期临床研究

[Translation] A multicenter, double-blind, randomized, placebo-controlled pivotal Phase III clinical study to evaluate the safety and efficacy of T89 in preventing and treating acute mountain sickness (AMS) during rapid altitude exposure

本项临床试验的目标为评估T89预防急性高原反应（AMS）和缓解急进高原期间AMS症状的安全性和有效性。

[Translation]

The goal of this clinical trial is to evaluate the safety and efficacy of T89 in preventing acute mountain sickness (AMS) and relieving AMS symptoms during acute altitude sickness.

Start Date20 Sep 2021

Sponsor / Collaborator

Tasly Pharmaceutical Group Co., Ltd.

NCT02244437

/ CompletedPhase 4IIT

Ibuprofen vs Acetaminophen in the Prevention of Acute Mountain Sickness: A Double Blind, Randomized Controlled Trial

AMS (acute mountain sickness) affects those who ascend too high (>2000m) too fast. Acetazolamide is an effective drug for the prevention of AMS where proper acclimatization with gradual ascent may not be an option. AMS presents with headache and other non-specific symptoms such as nausea, tiredness, and dizziness. Because of the side effects of acetazolamide such as a tingling sensation, other drugs have been investigated to see if they will prevent AMS. Ibuprofen has recently been shown to prevent AMS. In this present study the investigators want to see if acetaminophen can also prevent AMS as acetaminophen unlike ibuprofen does not have gastric side effects. Second, because acetaminophen has much less anti-inflammatory component than ibuprofen, it may also provide some insight into the pathophysiology of AMS if acetaminophen were found to be effective in the prevention of AMS.

Start Date01 Oct 2014

Sponsor / Collaborator

Mountain Medicine Society of Nepal

100 Clinical Results associated with Ablepharon Macrostomia Syndrome

100 Translational Medicine associated with Ablepharon Macrostomia Syndrome

0 Patents (Medical) associated with Ablepharon Macrostomia Syndrome

2,403

Literatures (Medical) associated with Ablepharon Macrostomia Syndrome

01 Mar 2025·Cancer Letters

From pathogenesis to precision medicine: Transformative advances in research and treatment of ameloblastoma

Review

Author: Cao, Wei ; Zhao, Zhang ; Wang, Cheng ; Xiong, Gan

Odontogenic neoplasms of the jaw are dominated by ameloblastoma (AM), a locally aggressive epithelial tumor with a significant propensity for recurrence. The World Health Organization's 2022 update to the AMclassification system underscores recent progress in comprehending its underlying mechanisms and refining clinical approaches. Contemporary research has yielded significant insights into the genetic underpinnings of AM, paving the way for the development of precision-based treatment strategies. Advanced genetic profiling has revealed a significant frequency of BRAF (V-raf murine sarcoma viral oncogene homolog) V600E and SMO (Smoothened) gene alterations in AM. Importantly, therapeutic interventions specifically designed to target these genetic aberrations, including BRAF and MEK pathway blockers, have shown encouraging results in terms of both effectiveness and tolerability, as documented in individual case reports and small-scale clinical investigations. This comprehensive review summarizes the recent modifications to the World Health Organization's categorization of AMs, explores progress in elucidating their underlying molecular pathways, and evaluates emerging targeted treatment modalities. Our objective is to present a thorough synthesis of contemporary scientific discoveries and therapeutic interventions, potentially paving the way for more efficacious and individualized clinical management protocols for this complex neoplasm.

01 Mar 2025·Journal of Stroke and Cerebrovascular Diseases

Predictors of outcome in patients with presumed reversible cerebral vasoconstriction syndrome (RCVS)

Article

Author: Theiss, Peter ; Fuentes, Angelica ; Madapoosi, Adrusht ; Amin-Hanjani, Sepideh ; Tshibangu, Mpuekela ; Alaraj, Ali ; McGuire, Laura Stone ; Mrad, Tatiana Abou ; Sanchez-Forteza, Anthony

INTRODUCTIONReversible cerebral vasoconstriction syndrome (RCVS) is thought to be benign by nature, but a proportion of patients still suffer from neurological deficits on follow-up.OBJECTIVETo understand what factors may influence a patient's recovery from RCVS.METHODSThe Clinical Research Data Warehouse at this institution was employed to search the medical records for patients with diagnosis and treatment of RCVS (2010-2021). After screening, 85 patients met inclusion criteria for a presumed diagnosis of RCVS with reported follow-up data. Patients were assessed by discharge modified Rankin Scale (mRS), which was grouped as lower (0 or 1) (n = 54) and higher (2 to 6) (n = 31). Clinical and radiographic data were analyzed.RESULTSMedian follow-up time was 80.0 (36.3-136) days for the lower discharge mRS group and 89.0 (39.0-179) days for the higher discharge mRS group. There were more females in the lower discharge mRS group (p = 0.027). Multivariate analysis selected sex (OR 0.220, 95% CI 0.068-0.709) and headache on presentation (OR 0.071, 95% CI 0.017-0.288) as predictive of lower discharge mRS, and a history hypertension (HTN) ([OR], 5.24 [95% CI, 1.65 - 16.7]), IPH on presentation ([OR], 8.21 [95% CI, 1.65 - 40.8]), and AMS on presentation ([OR], 25.8 [95% CI, 4.75 - 140]) as predictive of higher discharge mRS.CONCLUSIONFemale sex and headache are associated with lower discharge mRS, while a history of HTN, IPH, and altered mental status are associated with higher discharge mRS. Future studies with larger sample size may help elucidate factors associated with poor neurological outcome.

01 Feb 2025·International Journal of Infectious Diseases

Evolution of pharmacist roles in antimicrobial stewardship: A 20-year systematic review

Review

Author: Charani, Esmita ; Mohamed, Zubair Umer ; Nampoothiri, Vrinda ; Hisham, Mohamed ; Mbamalu, Oluchi ; Singh, Sanjeev K

INTRODUCTIONWhilst pharmacists are recognized as key contributors to antimicrobial stewardship (AMS) programs, the extent of their participation varies in different countries. We report a systematic review of pharmacist roles in AMS over 20 years.METHODSA systematic review of the literature describing pharmacist-led or driven AMS and its outcomes published in English between January 01, 2000, and June 30, 2020, was conducted across the main databases for research publication.RESULTSThe analysis included 111 papers, of which 77.5% (86/111) were from high-income countries (HIC) predominantly from the USA. While pharmacist-led or driven AMS interventions were reported only from HICs in the early 2000s, the review found a progressive rise in such studies from all income settings with audit and feedback being the most frequent intervention reported. Between 2016 and 2020, studies on pharmacists-led or driven outpatient AMS and interventions related to beta-lactam or penicillin allergy were reported from HICs. Key outcomes reported include improved appropriateness of antimicrobial therapy and decreased consumption of antimicrobials.CONCLUSIONExisting evidence demonstrates the positive impact of pharmacists' involvement in AMS. There needs to be a concerted effort in facilitating pharmacist roles in AMS across all countries, irrespective of income setting.

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Ablepharon Macrostomia Syndrome

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