- Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. [Journal Article]
- JBJ Bone Miner Res 2018 Jun 22
- Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities; autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 200...
Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities; autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15 (CARD15). NOD2 is a microbe sensor in leukocyte cytosol that activates and regulates inflammation. PGA is characterized by a triad of auto-inflammatory problems (dermatitis, uveitis, and arthritis) in early childhood, which suggests the causal NOD2/CARD15 mutations are activating defects. Additional complications of PGA were recognized especially when NOD2 mutation analysis became generally available. However, in PGA hypercalcemia is only briefly mentioned, and generalized osteosclerosis is not reported although NOD2 regulates NF-κB signaling essential for osteoclastogenesis and osteoclast function. Herein, we report a 4-year-old girl with PGA uniquely complicated by severe 1,25(OH)2 D-mediated hypercalcemia, nephrocalcinosis, and compromised renal function together with radiological and histopathological features of osteopetrosis (OPT). The classic triad of PGA complications was absent although joint pain and an antalgic gait accompanied wrist, knee, and ankle swelling and soft non-tender masses over her hands, knees, and feet. MRI revealed tenosynovitis in her hands and suprapatellar effusions. Synovial biopsy demonstrated reactive synovitis without granulomas. Spontaneous resolution of metaphyseal osteosclerosis occurred while biochemical markers indicated active bone turnover. Anti-inflammatory medications suppressed circulating 1,25(OH)2 D, corrected the hypercalcemia, and improved her renal function, joint pain and swelling, and gait. Mutation analysis excluded idiopathic infantile hypercalcemia, type 1, and known forms of OPT, and identified a heterozygous germline missense mutation in NOD2 common in PGA (c.1001G > A, p.Arg334Gln). Thus, radiological and histological findings of OPT and severe hypercalcemia from apparent extrarenal production of 1,25(OH)2 D can complicate NOD2-associated PGA. Although the skeletal findings seem inconsequential, treatment of the hypercalcemia is crucial to protect the kidneys. This article is protected by copyright. All rights reserved.
- Preliminary Experience With More Stable Polidocanol Foam in the Sclerotherapy of Head and Neck Venous Malformations. [Journal Article]
- DSDermatol Surg 2018 Jun 21
- CONCLUSIONS: The prolonged half-life of HA-POL foam sclerotherapy of VMs in the head and neck is safe and effective.
- Factors Associated With Inadequate Intraoperative Baseline Lower Extremity Somatosensory Evoked Potentials. [Journal Article]
- JCJ Clin Neurophysiol 2018 Jun 21
- CONCLUSIONS: Adequate baselines are paramount for successful intraoperative neurophysiologic monitoring. However, certain patient-specific factors are associated with inadequate baseline SEP signals. Physical examination findings and a detailed chart review can be done to identify these factors and guide expectations during monitoring. Further research related to patient-specific factors amenable to modification can further improve our capacity to protect the nervous system during surgery.
- A case of large deep fibrolipoma in the left subclavicular region that compromised the branchial plexus and thoracic duct: A case report. [Journal Article]
- IJInt J Surg Case Rep 2018 Jun 07; 48:139-141
- CONCLUSIONS: The exact etiology of fibrolipomas remains disputed, and endocrine, dysmetabolic, genetic, and traumatic factors have been often considered. A fibrolipoma characteristically grows by simple expansion in a well-encapsulated fashion without the tissue infiltration that is more characteristic of liposarcomas.The purpose of this case report is to highlight an unusually large tumor of this type in a dangerous area that caused thoracic outlet syndrome-like symptoms.
- Machine-learning in grading of gliomas based on multi-parametric magnetic resonance imaging at 3T. [Journal Article]
- CBComput Biol Med 2018 Jun 15; 99:154-160
- CONCLUSIONS: In this study, machine-learning based on multiregional and multi-parametric MRI data has proven to be an important tool in grading glial tumors accurately even in this limited patient population. Future studies are needed to investigate the use of machine learning algorithms for brain tumor classification in a larger patient cohort.
- Semi-interpenetrated, dendritic, dual-responsive nanogels with cytochrome c corona induce controlled apoptosis in HeLa cells. [Journal Article]
- EJEur J Pharm Biopharm 2018 Jun 19
- The use of thermoresponsive nanogels (NGs) allows the controlled release of therapeutic molecules upon a thermal switch. Usually, this strategy involves the use of temperature increase to activate ca...
The use of thermoresponsive nanogels (NGs) allows the controlled release of therapeutic molecules upon a thermal switch. Usually, this strategy involves the use of temperature increase to activate cargo expulsion from shrinking NGs. In this study, poly(N-isopropylacrylamide) (pNIPAM)-based NGs were involved in the release of a therapeutic protein corona by temperature decrease. NGs based on dendritic polyglycerol (dPG) and thermoresponsive pNIPAM were semi-interpenetrated with poly(4-acryloylamine-4-(carboxyethyl)heptanodioic acid) (pABC). The resulting semi-interpenetrated NGs retain the thermoresponsive properties of pNIPAM, together with pH-responsive, dendritic pABC as a secondary network, in one single nanoparticle. Semi-interpenetrated polymer network (SIPN) NGs are stable in physiological conditions, exhibit a reversible phase transition at 35 °C, together with tunable electrophoretic mobilities around the body temperature. The binding of A cytochrome c (cyt c) corona was successful formed on SIPN NGs in their collapsed state at (37 °C). Upon cooling of the samples to room temperature, the swelling of the NG effectively boosted the release of cyt c, as compared with the same kept at constant 37 °C. These responsive SIPN NGs were able to deliver cyt c to cancer cells and specifically induce apoptosis at 30 °C, while the cells remained largely unaffected at 37 °C. In this way, we show therapeutic efficacy of thermoresponsive NGs as protein carriers and their efficacy triggered by temperature decrease. We envision the use of such thermal trigger as relevant for the treatment of superficial tumors, in which induction of apoptosis can be controlled by the application of local cooling agents.
- Subchondral Bone and the Osteochondral Unit: Basic Science and Clinical Implications in Sports Medicine. [Journal Article]
- SHSports Health 2018 Jun 01; :1941738118782453
- CONCLUSIONS: Continued explorations into the intricacies of subchondral bone marrow abnormalities and implications for the advent of procedures such as subchondroplasty will inform further research efforts on how interventions aimed at the subchondral bone may provide durable options for knee joint preservation.
- Effect of dehydroepiandrosterone on the liver of perimenopausal rat: multiple doses study. [Journal Article]
- UPUltrastruct Pathol 2018 Jun 22; :1-11
- Dehydroepiandrosterone (DHEA) is a widespread nutritional "anti-aging" supplement. Exogenous supplementation of DHEA is now being commonly used to augment ovarian stimulation in perimenopausal women ...
Dehydroepiandrosterone (DHEA) is a widespread nutritional "anti-aging" supplement. Exogenous supplementation of DHEA is now being commonly used to augment ovarian stimulation in perimenopausal women with diminished ovarian reserve. Whether DHEA causes side effects in such age is, however, unknown. Thus, this study investigates the effects of pharmacological doses of DHEA supplementation on the liver of perimenopausal rats. DHEA supplementation to perimenopausal rats resulted in slight hepatomegaly and steatosis, hepatocytic hypertrophy, mitochondrial swelling, elevation in serum alanine aminotransaminase levels, in addition to the accumulation of lipid droplets and lipolysosomes in a dose-dependent manner. In conclusion, long-term administration of high doses of DHEA causes ultrastructural alterations and changes in the levels of cholesterol and triglyceride in hepatocytes of perimenopausal rats. DHEA at a dose of 50 mg/kg improves health and decreases the body weight, with the least side effects on the liver of perimenopausal rats.
- Sagittal splitting of the temporalis muscle for encephalo-myo-synangiosis to prevent ischemic complications due to a swollen temporalis muscle without inhibiting collateral developments in patients with moyamoya disease. [Journal Article]
- JNJ Neurosurg 2018 Jun 22; :1-8
- CONCLUSIONS: SS of the temporalis muscle might prevent neurological deterioration caused by the swollen temporalis muscle by reducing its volume without inhibiting the development of the collateral vessels.
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- Porcine endothelial grafts could survive for a long term without using systemic immunosuppressors: An investigation of feasibility and efficacy of xeno-Descemet's stripping automated endothelial keratoplasty from WZS-pig to rhesus monkey. [Journal Article]
- XXenotransplantation 2018 Jun 22; :e12433
- CONCLUSIONS: Xeno-DSAEK is feasible and effective, and the technique may reduce the complications common to xeno-PKP. More importantly, the porcine DSAEK grafts could survive for a long term without using systemic immunosuppressors and exhibit promising future for clinical practice.