Heterogeneous Cardiac-Derived and Neural Crest-Derived Aortic Smooth Muscle Cells Exhibit Similar Transcriptional Changes After TGFβ Signaling Disruption.

Background: Smooth muscle cells (SMCs) of cardiac and neural crest origin contribute to the developing proximal aorta and are linked to disease propensity in adults.

Methods: We analyzed single-cell transcriptomes of aortic SMCs from adult mice to determine basal states and changes after disrupting TGFβ (transforming growth factor-β) signaling necessary for aortic homeostasis.

Results: A minority of Myh11 lineage-marked SMCs differentially expressed genes suggestive of embryological origin.

[MAIGNE'S THORACOLUMBAR JUNCTION SYNDROME].

The characteristic of thoracolumbar junction syndrome (TLJS( described by Maigne are pain in the iliac crest and tenderness on palpation at the level of the junction between the lower dorsal and the upper lumbar vertebra. It is an often unrecognized and treatable cause of low back pain. TLJS is commonly associated with those who have low back pain, although it does not always present pain in this region.

Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy.

Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy.

The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare syndrome presenting in early childhood associated with a high risk of mortality between 50 and 60%. It is characterised by rapid, early onset of obesity between 1.5-7 years, along with central hypoventilation and hypothalamic dysfunction, such as central hypothyroidism, hyperprolactinemia, disorders of sodium and water balance, growth hormone deficiency, adrenocortical insufficiency, or disorders of puberty and features of autonomic dysregulation.

A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.

Hajdu Cheney Syndrome (HCS), a monogenic disorder associated with NOTCH2 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia. To determine the consequences of a HCS pathogenic variant in human cells, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH2 mutation or null for HES1 alleles were created.

Systemic sclerosis and acute heart failure in prosthetic heart valve patients: A retrospective analysis.

Background: Acute heart failure in patients with prosthetic heart valves is a complex problem with clinical and therapeutic challenges. Systemic sclerosis is a chronic autoimmune disease frequently associated with valvular abnormalities. The association between systemic sclerosis and acute heart failure in patients with prosthetic heart valves remains understudied.

Fatal Fat Embolism Syndrome After Posterior Spinal Fusion: A Case Report.

Posterior spinal fusion with instrumentation is a routine elective treatment of lumbar stenosis with radiculopathy and myelopathy. Fat embolism syndrome (FES) is a rare complication of this procedure. We describe the first documented case of fatal FES after an L3-L5 posterior spinal fusion using off-label bone morphogenic protein 2 (BMP-2) and allograft instead of iliac crest bone grafting.

Epigastric discomfort in a young woman: unveiling a case of CREST syndrome.

Introduction And Importance: CREST syndrome is a clinical condition seen in relation to systemic sclerosis, which meets at least three of its five clinical features: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. Three of these clinical features (Raynaud's phenomenon, sclerodactyly, and esophageal dysmotility) are often present in classical subsets of SSc: limited and diffuse, and their presence alone in association does not define CREST syndrome. Laboratory findings (autoimmunity) are crucial for diagnosis.

Differences in metabolic syndrome severity and prevalence across nine waist circumference measurements collected from smartphone digital anthropometrics.

Background & Aims: Given the technological advances in 3D smartphone (SP) anthropometry, this technique presents a unique opportunity to improve metabolic syndrome (MetS) screening through optimal waist circumference (WC) landmarking procedures. Thus, the purpose of this study was to evaluate the associations between individual MetS risk factors and nine independent WC sites collected using tape measurement or SP anthropometrics and to determine the differences in MetS severity and prevalence when using these different WC measurement locations.

Methods: A total of 130 participants (F:74, M:56; age: 27.