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Journal of Diabetes Investigation Jul 2024Diabetes mellitus (DM) and arginine vasopressin deficiency (AVP-D) are characterized by polyuria. Marfan syndrome is an autosomal dominant disorder caused by...
Diabetes mellitus (DM) and arginine vasopressin deficiency (AVP-D) are characterized by polyuria. Marfan syndrome is an autosomal dominant disorder caused by pathogenetic variants in FBN1. Here, we report a patient with type 2 diabetes mellitus, AVP-D, and Marfan syndrome. Although the coexistence of type 2 diabetes mellitus and AVP-D is rare, for those patients with type 2 diabetes mellitus, the existence of AVP-D should be considered when polyuria is not in accordance with the blood glucose levels, especially for those with a low urine specific gravity. Specific symptoms or signs help to identify Marfan syndrome early, and genetic testing of the FBN1 pathogenetic variant helps to make a definitive diagnosis.
Topics: Humans; Diabetes Mellitus, Type 2; Marfan Syndrome; Arginine Vasopressin; Male; Middle Aged; Female; Polyuria; Fibrillin-1
PubMed: 38429969
DOI: 10.1111/jdi.14169 -
BMC Cardiovascular Disorders Feb 2024There is a paucity of Chinese studies evaluating the quality of life (QoL) in young acute type A aortic dissection (AAAD) patients with Marfan syndrome.
BACKGROUND
There is a paucity of Chinese studies evaluating the quality of life (QoL) in young acute type A aortic dissection (AAAD) patients with Marfan syndrome.
METHODS
Young adult AAAD patients (younger than 45 years old) underwent surgical treatment at our institution from January 2017 to December 2020 were consecutive enrolled. The hospital survivors completed 1 year of follow up. Patients were divided into two groups according to the presence or absence of Marfan syndrome (MFS). A 1:1 propensity score matching (PSM) with a caliper 0.2 was conducted to balance potential bias in baseline. The follow-up data were analyzed primarily for change in quality of life and anxiety status.
RESULTS
After PSM, 32 comparable pairs were matched. The baseline data were comparable and postoperative complications were similar between groups. In terms of SF-36 scale, the role physical, bodily pain, role emotional and mental health subscales were no significantly improved in MFS patients over time. At 1 year after discharged, the subscale of mental health and bodily pain were significantly lower in the MFS group than in the non-MFS group. In terms of HADS assessments, the level of anxiety in MFS patients was significantly higher than in non-MFS patients at 1 year after discharged.
CONCLUSIONS
The QoL in young AAAD patients with MFS is lower than those without MFS after surgery. This may be associated with the uncontrollable persistent chronic pain and the uncertainty and concerns for the disease's progression.
Topics: Young Adult; Humans; Middle Aged; Marfan Syndrome; Quality of Life; Aortic Dissection; Pain; China
PubMed: 38424531
DOI: 10.1186/s12872-024-03740-2 -
Cureus Jan 2024Meningoceles refer to the protrusion of meninges filled with cerebrospinal fluid (CSF) through a bone defect. There is scarce literature on the management of multiple...
Meningoceles refer to the protrusion of meninges filled with cerebrospinal fluid (CSF) through a bone defect. There is scarce literature on the management of multiple giant anterior sacral meningoceles (ASMs). We report the case of a patient with Marfan syndrome presenting with gait disturbances and dizziness triggered by posture changes due to multiple giant ASMs. The patient was managed through an anterior approach involving a multidisciplinary team of surgeons. Care was taken to limit the persistence of CSF leak using an omental pedicled flap. This technique has only been mentioned twice in the literature for such cases. A literature review was conducted focusing on the evolution course and surgical strategy of meningoceles.
PubMed: 38384626
DOI: 10.7759/cureus.52724 -
The American Journal of Case Reports Feb 2024BACKGROUND Micropulse transscleral cyclophotocoagulation is a non-invasive, widely employed procedure that uses diode laser to target the ciliary body to lower the...
BACKGROUND Micropulse transscleral cyclophotocoagulation is a non-invasive, widely employed procedure that uses diode laser to target the ciliary body to lower the intraocular pressure. Despite its acknowledged efficacy, certain complications are recognized, with neurotrophic keratopathy being a rare yet serious consequence. This report seeks to shed light on a potential high-risk subgroup susceptible to neurotrophic keratopathy, exemplified by our patient with Marfan syndrome, a condition characterized by thin sclera. CASE REPORT Our patient, who was confirmed to have Marfan syndrome with pseudophakic glaucoma, underwent micropulse transscleral cyclophotocoagulation due to high intraocular pressure bilaterally and subsequently quickly manifested neurotrophic keratopathy in both eyes postoperatively. Swift initiation of management involved a comprehensive approach, including topical antibiotics, preservative-free lubrication, medroxyprogesterone acetate 1%, serum balanced salt solution (BSS) 50%, and the application of bandage contact lenses to expedite healing. Fortunately, the left eye demonstrated resolution within 10 days, while the right eye exhibited delayed healing, leading to subsequent scarring. CONCLUSIONS This report highlights the critical importance of recognizing populations predisposed to neurotrophic keratopathy before subjecting them to micropulse transscleral cyclophotocoagulation. Such awareness allows for the fine-tuning of procedural parameters, offering a strategic approach to mitigate the risk of neurotrophic keratopathy development. By further exploring and recognizing potential risk factors, clinicians can enhance patient outcomes and refine the safety profile of micropulse transscleral cyclophotocoagulation.
Topics: Humans; Ciliary Body; Laser Coagulation; Marfan Syndrome; Glaucoma; Risk Assessment; Treatment Outcome
PubMed: 38384125
DOI: 10.12659/AJCR.942538 -
Clinical Case Reports Feb 2024Marfan syndrome (MFS) is an autosomal dominantly inherited condition that has varying phenotypic expressions. This case report describes one such African patient, from...
Marfan syndrome (MFS) is an autosomal dominantly inherited condition that has varying phenotypic expressions. This case report describes one such African patient, from Ghana, who had typical clinical and imaging traits of MFS but was first diagnosed incidentally at the age of 23 years. In this report, we explore the challenges of early diagnosis in this population.
PubMed: 38380377
DOI: 10.1002/ccr3.8494 -
Frontiers in Pediatrics 2024Transforming growth factor β (TGFβ) metabolism plays an important role in the pathogenesis of Marfan syndrome (MFS). Accordingly, drug therapy uses TGFβ receptor...
INTRODUCTION
Transforming growth factor β (TGFβ) metabolism plays an important role in the pathogenesis of Marfan syndrome (MFS). Accordingly, drug therapy uses TGFβ receptor blockade to slow down the cardiovascular manifestations, above all aortic root dilatation. Angiotensin II type 1 receptor blockers (ARBs) have been shown to reduce TGFβ levels in adults. Data on childhood are lacking and are now being investigated in the TiGer For Kids study presented here.
METHODS
We examined 125 children without chronic disease and 31 pediatric Marfan patients with a proven variant with regard to TGFβ levels. In addition, we measured TGFβ levels during the initiation of ARB therapy in pediatric Marfan patients.
RESULTS
In children without chronic disease, TGFβ levels were found to decrease from childhood to adolescence ( < 0.0125). We could not measure a relevantly increased TGFβ level in pediatric Marfan patients. However, we showed a significant suppression of the TGFβ level after treatment with ARBs ( < 0.0125) and a renewed increase shortly before the next dose.
DISCUSSION
The TGFβ level in childhood changes in an age-dependent manner and decreases with age. The TGFβ level drops significantly after taking ARBs. Based on our experience and data, a TGFβ receptor blockade in childhood seems reasonable. So far, TGFβ level cannot be used as an MFS screening biomarker.
PubMed: 38379908
DOI: 10.3389/fped.2024.1276215 -
JACC. Basic To Translational Science Jan 2024Major pathologic changes in the proximal aorta underlie the life-threatening aortic aneurysms and dissections in Marfan Syndrome; current treatments delay aneurysm...
Major pathologic changes in the proximal aorta underlie the life-threatening aortic aneurysms and dissections in Marfan Syndrome; current treatments delay aneurysm development without addressing the primary pathology. Because excess oxidative stress and nitric oxide/protein kinase G signaling likely contribute to the aortopathy, we hypothesized that cobinamide, a strong antioxidant that can attenuate nitric oxide signaling, could be uniquely suited to prevent aortic disease. In a well-characterized mouse model of Marfan Syndrome, cobinamide dramatically reduced elastin breaks, prevented excess collagen deposition and smooth muscle cell apoptosis, and blocked DNA, lipid, and protein oxidation and excess nitric oxide/protein kinase G signaling in the ascending aorta. Consistent with preventing pathologic changes, cobinamide diminished aortic root dilation without affecting blood pressure. Cobinamide exhibited excellent safety and pharmacokinetic profiles indicating it could be a practical treatment. We conclude that cobinamide deserves further study as a disease-modifying treatment of Marfan Syndrome.
PubMed: 38362350
DOI: 10.1016/j.jacbts.2023.07.014 -
JACC. Basic To Translational Science Jan 2024
PubMed: 38362344
DOI: 10.1016/j.jacbts.2023.09.011 -
Molecular Therapy. Methods & Clinical... Mar 2024
PubMed: 38357700
DOI: 10.1016/j.omtm.2024.101196 -
Medical Science Monitor : International... Feb 2024Aortic root aneurysms are one of the most common aortic root diseases, involving the aortic valve, aortic sinus, bilateral coronary arteries, and part of the ascending... (Review)
Review
Aortic root aneurysms are one of the most common aortic root diseases, involving the aortic valve, aortic sinus, bilateral coronary arteries, and part of the ascending aorta. It is a life-threatening aortic disease with a high mortality rate of approximately 90%, due to aortic aneurysm rupture. Aortic valve insufficiency is one of the most common complications of aortic root aneurysms that can lead to acute left heart failure. The etiology of aortic root aneurysms is not yet completely clear and is mainly related to genetic diseases, such as Marfan syndrome and atherosclerosis. It can also occur secondary to aortic valve stenosis or a bivalve deformity. Surgery is the primary treatment for aortic root aneurysms, and aortic root replacement is a classic surgical method. However, the incidences of perioperative complications and mortality are relatively high, particularly in high-risk patients. In recent years, the anatomical structure of the aortic root has been gradually refined, and an in-depth understanding of root aneurysms has led to individualized treatment methods. Conservative drug therapy (ß-receptor blockers, angiotensin-converting enzyme inhibitors, or angiotensin receptor blockers), Bentall and modified Bentall surgeries (Button technology, Cabrol surgery, and modified Cabrol surgery), valve-sparing aortic root replacement (David and Yacoub), personalized external aortic root support, and endovascular intervention therapy have significantly improved the perioperative and long-term survival rates of patients with aortic root aneurysms. However, different treatment methods have their own advantages and disadvantages. This review aimed to summarize the current research progress and treatment of aortic root aneurysms.
Topics: Humans; Aortic Root Aneurysm; Aorta; Aortic Aneurysm, Thoracic; Marfan Syndrome; Aortic Valve Insufficiency; Aortic Valve; Aortic Diseases; Treatment Outcome
PubMed: 38332569
DOI: 10.12659/MSM.943216