Preoperative Computed Tomography Virtual Simulation for HeartMate 3 Implantation in Small Children by Akihisa Furuta, MD, PhD, Takeshi Shinkawa, MD, PhD, Yuki Ichihara, MD, PhD, Hisashi Yoshida, MD, Hiroshi Niinami, MD, PhD

“…We present a 9-year-old girl with dilated cardiomyopathy (weight, 20.0 kg; body surface area, 0.86 m2) and an 8-year-old boy with Marfan syndrome with severe ventricular dysfunction (weight, 25.0 kg; body surface area, 1.05 m2), who had preoperative virtual simulation and subsequent successful HeartMate 3 (Abbott Cardiovascular) implantation.…”
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Rapid dilatation of mycotic aneurysm of dissecting aorta caused by Edwardsiella tarda by Naoto Fukunaga, MD, PhD, Tatsuto Wakami, MD, Akio Shimoji, MD, Otohime Mori, MD, Kosuke Yoshizawa, MD, Nobushige Tamura, MD, PhD

“…A 48-year-old woman with Marfan's syndrome presented to our hospital with fever, nausea, and general fatigue. …”
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Physiome II : use of PPI databases to determine the significance of decorin on cartilage degeneration by Chew, Grace Huizhen.

“…It is also hoped that a definitive link can be drawn from DCN association with its protein neighbours to cartilage degenerative diseases such as Osteoarthritis, Ehlers-Danlos Syndrome and the Marfan Syndrome. Three databases were used in this experiment for the prediction of protein interactions, they are: (i) STRING 8.0; (ii) iHOP; and (iii) HPRD. …”
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Development of spinal deformities in the tight-skin mouse by Li, B, Urban, J, Yu, J

“…Tight-skin (TSK) mice are commonly used as an animal model to study the pathogenesis of Marfan syndrome (MFS), but little is known of their skeletal phenotype and in particular of the development of the spinal deformities, common in MFS. …”

Novel insights into complex cardiovascular pathologies using 4d flow analysis by cardiovascular magnetic resonance imaging by Lewandowski, A, Raman, B, Banerjee, R, Milanesi, M

“…It has been possible to gain new insights into cardiovascular pathologies such as, but not limited to, hypertrophic cardiomyopathy, dilated cardiomyopathy, Marfan syndrome and aortic bicuspid valve disease. CONCLUSION: Future work to standardize 4D flow CMR scan acquisition parameters is required, similarly as the development of automated analysis tools and standardized reporting of quantitative metrics to increase capacity for larger studies and translation to clinical practice. …”

Which neurodevelopmental disorders get researched and why? by Bishop, D

“…</p><p> Methods: Bibliographic searches were conducted to identify publications (1985–2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. …”

Percutaneous gluteal artery access to embolize false lumen of type B aortic dissection in marfan patient by Ada Dajci, MD, Alireza Mohseni, MS, Alessia Di Girolamo, MD, Pier Giorgio Nardis, MD, Luca di Marzo, MD, PhD, Wassim Mansour, MD, PhD

“…This case study presents an innovative endovascular approach using percutaneous gluteal artery access for embolizing the false lumen of a type B aortic dissection in a patient with Marfan syndrome. Following multiple complex surgeries, the patient developed an enlarging thoraco-abdominal aneurysm, necessitating an urgent intervention branched endoprosthesis despite persisting false lumen perfusion. …”
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Relations between the occurrence of hypermobility and gender in the group of children aged 6 - 10 years by Joanna Maryczkanicz, Katarzyna Weber-Nowakowska

“… Introduction:Hypermobility of joints in healthy people may be either acquired or congenital be a symptom of a connective tissue disorder such as Marfan syndrome, osteogenesis imperfecta, or Ehler-Danlos syndrome. …”
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Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria. by Hutchinson, S, Aplin, RT, Webb, H, Kettle, S, Timmermans, J, Boers, G, Handford, P

“…Homocystinurics often exhibit phenotypic abnormalities that are similar to those found in Marfan syndrome (MFS), a heritable connective tissue disorder that is caused by reduced levels of, or defects in, the cysteine-rich extracellular matrix (ECM) protein fibrillin-1. …”

Impact of feeding problems on nutritional intake and growth: Oxford Feeding Study II. by Sullivan, P, Juszczak, E, Lambert, B, Rose, M, Ford-Adams, M, Johnson, A

“…Diagnostic categories of disability were: CP (n=90); global developmental delay (n=3); Marfan syndrome (n=1); intractable epilepsy (n=2); agenesis of the corpus callosum (n=2); methyl malonic aciduria (n=1); and congenital rubella (n=1). …”

Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus by Daro Jeong, Jung Hyun Lee, Seom Gim Kong

“…He was suspected of having a hereditary connective-tissue disorder and was diagnosed with Loeys-Dietz syndrome type 1 by next-generation sequencing. Similar to Marfan syndrome and Ehlers-Danlos syndrome, this disease has a high risk of aortic aneurysm and aortic dissection. …”
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A Case Report on Spontaneous Coronary Artery Dissection in a Patient with Churg-Strauss Syndrome by Neel Kanth Issar, Jayachandra Amarapalli, Prabhat Sharma, Ajay Shankar Prasad, Narendra Pachehra

“…It may be associated with autoimmune disease, connective tissue disorder, collagen vascular disease, Marfan syndrome, intense physical exercise and during peripartum period. …”
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Coarctation of the Aorta with Arterial Tortuosity Syndrome &ndash; A Case Report with Cinematic Rendering by Asafu Adjaye Frimpong G, Aboagye E, Tannor EK, Chigbu CNC, Daboner VT

“…Considering the non-specific indications and the overlap of ATS with other disorders of the connective tissue such as Williams Beuren syndrome (elastin), Marfan syndrome (fibrillin-1) and Ehlers Danlos syndrome (Type III collagen), it is vital to keep a high diagnostic suspicion in the analysis of the condition. …”
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Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis. by Sacha A Jensen, Ondine Atwa, Penny A Handford

“…The human FBN1 gene encodes fibrillin-1 (FBN1); the main component of the 10-12 nm diameter extracellular matrix microfibrils. Marfan syndrome (MFS) is a common inherited connective tissue disorder, caused by FBN1 mutations. …”
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Endovascular Aortic Repair (EVAR) Method in The Management of Abdominal Aortic Aneurysm by Abed Nego Okthara Sebayang, Niko Azhari Hidayat

“…Aortic disease is a collection of diseases of the aorta, which includes aortic aneurysms; acute aortic infections consisting of aortic dissection, intramular hematoma, penetration of atherosclerotic ulcers (PAU) and traumatic injury to the aorta; pseudoaneurysm; aortic rupture; Marfan syndrome; and congenital abnormalities such as coarctation of the aorta. …”
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Effects of changing the timing of warfarin administration in combination with fluconazole on prolongation of the PT-INR: a case report by Hayato Akamatsu, Hiroo Nakagawa, Ichiro Matsumaru, Junya Hashizume, Hitomi Harasawa, Yukinobu Kodama, Takashi Miura, Kaname Ohyama

“…Case presentation A female patient in her 30s with Marfan syndrome had undergone the Bentall procedure with a mechanical valve and total arch replacement for acute aortic dissection Stanford A type and rupture of the ascending aorta. …”
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Anterior Segment Imaging and Treatment of a Case with Syndrome of Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism by Ahmad M. Mansour, Mohammad H. Younis, Rola H. Dakroub

“…The girl had abnormal facial features (a beaked nose and long face) with normal chromosomal studies, negative fluorescent in situ hybridization study for velocardiofacial syndrome and an absence of signs suggesting Marfan syndrome. Under general anesthesia, attempts at deepening the anterior chamber with sodium hyaluronate 3% led to a spontaneous dislocation of the lens into the anterior chamber, facilitating its aspiration. …”
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Professional footballers have a limited understanding of the precompetition medical assessment and the possible outcomes including disqualification: a cross-sectional survey by Mark L Fulcher, Thomas J Chin, Arier C L Lee

“…Most participants did not know the definitions of syncope (n=181, 93.3%) or Marfan syndrome (n=183, 94.3%). Fifty players (28.1%) did not know that disqualification was a possible outcome of a PCMA, and younger players were less aware of this possible outcome (p=0.0216).Conclusion Professional footballers appear to have a limited understanding of the purpose of a PCMA, emphasising the musculoskeletal system and performance. …”
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Clinical manifestations, imaging findings and laboratory abnormalities in 51 patients with autosomal dominant polycystic kidney disease: Experience at Tirupati, South India by K M Bhargav, B Siddhartha Kumar, Alladi Mohan, L R Aramadhaka, B Manoj Prajwal, D Prabath Kumar, B Vijayalakshmi Devi, V Sivakumar

“…Other associated co-morbid conditions were type 2 diabetes mellitus (n = 6); Marfan's syndrome with mitral valve prolapsed and renal cell carcinoma (one patient each). …”
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Ehlers-Danlos syndrome type IV by Germain Dominique P

“…In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. …”
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