The general skeletal features of Multicentric Carpotarsal Osteolysis:what the radiologist needs to know

Purpose of review:Radiographic imaging is the first investigational step in detecting Multicentric carporarsal osteolysis, and the radiologist must be aware then familiar with the radiological features in order both to reach a prompt diagnosis and then to classify the patient’s condition at this important time for considering early management. Here we review the literature on this topic. Recent Findings: Patients with multicentric carpotarsal osteolysis (MCTO) are frequently diagnosed with juvenile idiopathic arthritis (JIA). Initially, their symptoms are arthritic and include pain, swelling and stiffness.Among the many published studies, some are case reports that describe the phenotypical manifestations with a brief discussion of the radiographic findings and subsequently of the genetic analysis which eventually leads to a definitive diagnosis.Some patients develop end- stage renal failure, and a delay in identifying this condition can lead to unfavorable progression of the disease.In addition, we found reports of joint inflammation based on imaging and pain relief with antirheumatics for osteolysis and bone destruction. Various studies discuss the radiological findings, including the disappearance of the carpal and tarsal bones.Others describe the genetic mutations, including MAFB, that are associated with the condition, and its possible management through the use of therapeutic drugs.A very recent description of serial radiographs taken from a young age suggests that dysfunctional bone formation can play a role in the skeletal phenotype of MCTO.Summary:The unique features of clinical presentation, atypical radiological findings, failure to obtain remission with medical treatment and consanguinity, should guide clinicians towards the diagnosis of this condition.We summarize the X-ray findings which are highly specific and can therefore differentiate with confidence between this condition and others. Further performance of gene.

Di (2-ethylhexyl) phthalate-induced hypospadias in SD rats is related with Mafb expression: a transcriptome profiling-based study / 南方医科大学学报

OBJECTIVE@#To investigate the transcriptome profile of genital tubercles (GTs) in male SD rats and explore the mechanism of hypospadias induced by Di (2-ethylhexyl) phthalate (DEHP).@*METHODS@#Forty time-pregnant SD rats were randomly divided into 4 equal groups, namely GD16 group and GD19 group (in which the male GTs were collected on gestation day[GD]16 and GD19 for RNA-seq, respectively), control group and DEHP exposure group (with administration of oil and 750 mg/kg DEHP by gavage from GD12 to GD19, respectively).In the control and DEHP exposure groups, the GTs were collected from the male fetuses on GD19.5, and scanning electron microscopy and HE staining were used to observe the morphological changes.The differentially expressed genes (DEGs) in the GTs were screened using lllumina HiSeq 2000 followed by GO and KEGG enrichment analyses to characterize the transcriptome profile.Immunofluorescence assay was performed to verify the DEGs (Mafb) identified by RNA-seq results.Immunofluorescence assay and Western blotting were used to examine the expression levels of Mafb in the penile tissue.@*RESULTS@#A total of 1360 DEGs were detected in the GTs between GD16 group and GD19 group by RNA-seq.Among these genes, 797 were up-regulated and 563 were down-regulated.These DEGs were mainly enriched in the cell adhesion plaque signaling pathway, axon guidance signaling pathway, and extracellular matrix receptor signaling pathway.Compared with that in GD16 group, Mafb was significantly up-regulated in GD19 group, which was consistent with the sequencing results.Mafb and β-catenin were significantly down-regulated in DEHP-exposed group compared with the control group ( < 0.01).@*CONCLUSIONS@#Mafb expression increases progressively with the development of GTs in male SD rats.DEHP exposure causes significant down-regulation of Mafb and β-catenin, suggesting that β-catenin signaling pathway that affects Mafb is related to DEHP-induced hypospadias in SD rats.

MAFB mediates the therapeutic effect of sleeve gastrectomy for obese diabetes mellitus by activation of FXR expression

Farnesoid X receptor (FXR) and related pathways are involved in the therapeutic effect of sleeve gastrectomy for overweight or obese patients with diabetes mellitus. This study aimed to investigate the mechanism of FXR expression regulation during the surgical treatment of obese diabetes mellitus by sleeve gastrectomy. Diabetic rats were established by combined streptozotocin and high-fat diet induction. Data collection included body weight, chemical indexes of glucose and lipid metabolism, liver function, and the expression levels of musculoaponeurotic fibrosarcoma oncogene family B (MAFB), FXR, and related genes induced by sleeve gastrectomy. Chang liver cells overexpressing MAFB gene were established to confirm the expression of related genes. The binding and activation of FXR gene by MAFB were tested by Chip and luciferase reporter gene assays. Vertical sleeve gastrectomy induced significant weight loss and decreased blood glucose and lipids in diabetic rat livers, as well as decreased lipid deposition and recovered lipid function. The expression of MAFB, FXR, and FXR-regulated genes in diabetic rat livers were also restored by sleeve gastrectomy. Overexpression of MAFB in Chang liver cells led to FXR gene expression activation and the alteration of multiple FXR-regulated genes. Chip assay showed that MAFB could directly bind with FXR promoter, and the activation of FXR expression was confirmed by luciferase reporter gene analysis. The therapeutic effect of sleeve gastrectomy for overweight or obese patients with diabetes mellitus was mediated by activation of FXR expression through the binding of MAFB transcription factor.

The association of MAFB gene polymorphism with nonsyndromic cleft lip with or without cleft palate in Ningxia Hui and Han population / 实用口腔医学杂志

Objective:To study the association between non-syndrome cleft lip and palate (NSCL/P)and MAFB (rs6072081, rs6065259,rs17820943,rs11696257)gene polymorphism in NingXia Hui and Han population.Methods:512 cases of NSCL/P,258 case of Hui nationality and 254 of Han,174 cases of complete 3 core family members(patients and their parents),142 cases of single parents families(patients and their single parents),were collected in patient group.505 cases of healthy newborns were collected in control group.The MAFB gene SNPs were determined with TaqMan SNPs genotyping methods and the data were analyzed by case-con-trol analysis,transmission disequilibrium test(TDT)and family based association test(FBAT).Results:Case-control analysis found that,there was a statistical significance of the genotypes and allele frequency between patients and the controls in MAFB of the 4 locus (P 0.05).Conclusion:The 4 locus single nucle-otide polymorphism was associated with NSCL/P in Ningxia population.