- Novel anti-obesity effect of scutellarein and potential underlying mechanism of actions. [Journal Article]
- BPBiomed Pharmacother 2019 Jun 19; 117:109042
- CONCLUSIONS: These results suggest that Sc possesses important novel anti-obesity effects accompanying lipid lowering and anti-inflammation-based liver protective effects. These favorable effects are causally associated with the suppression of gene expression of inflammatory cytokines and fine regulation of genes responsible for energy metabolism. Our results advance the understanding of the pharmacological actions of Sc, and provides a role for Sc in effective management of obesity.
- A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia). [Journal Article]
- IJInt J Circumpolar Health 2019; 78(1):1630219
- Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation …
Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four types of WS differing in phenotypic characteristics are now described. We performed a Sanger sequencing of coding regions of genes PAX3, MITF, SOX10 and SNAI2 in the patient with WS from a Yakut family living in the Sakha Republic. No changes were found in the PAX3, SOX10 and SNAI2 coding regions while a previously reported heterozygous transition c.772C>T (p.Arg259*) in exon 8 of the MITF gene was found in this patient. This patient presents rare phenotype of WS type 2: congenital unilateral hearing loss, unilateral heterochromia of irises, and absence of skin/hair depigmentation and dystopia canthorum. Audiological variability in WS type 2, caused by the c.772C>T (p.Arg259*) variant in the MITF gene, outlines the importance of molecular analysis and careful genotype-phenotype comparisons in order to optimally inform patients about the risk of hearing loss. The results of this study confirm the association of pathogenic variants in the MITF gene with WS type 2 and expanded data on the variability of audiological features of the WS.
- [Successful treatment of an infant with a rare anomaly: iliosacral dystopia of the right kidney and obliteration of the left distal ureter]. [Journal Article]
- UUrologiia 2019; (1):102-104
- In the article a rare case of structural anomaly of ureter, namely obliteration, in 1-year-old infant is reviewed. The obliteration was located in the distal part of the left ureter. There was urine …
In the article a rare case of structural anomaly of ureter, namely obliteration, in 1-year-old infant is reviewed. The obliteration was located in the distal part of the left ureter. There was urine leakage through dilated and inflamed wall of the ureter towards right gluteal region with a formation of retroperitoneal abscess. A diagnosis was established based on preoperative MRI and intraoperative antegrade pyeloureterography. Extravesical Lich-Gregoir ureterocystoneostomy was successfully performed.
- [A comparative analysis of the results of percutaneous nephrolithotomy and laparoscopic pyelolithotomy]. [Journal Article]
- UUrologiia 2019; (2):26-30
- CONCLUSIONS: PNL remains the main treatment method for patients with large kidney stones. However, abnormal kidneys, concomitant ureteropelvic junction obstruction or endoscopic treatment failure can be indications to LP.
- Fixation Points in the Treatment of Traumatic Zygomaticomaxillary Complex Fractures: A Systematic Review and Meta-Analysis. [Journal Article]
- JOJ Oral Maxillofac Surg 2019 Apr 30
- CONCLUSIONS: The reported data were limited by low quality, retrospective studies. However, the meta-analysis of randomized control trial data suggested a superiority of 3 points of exposure and fixation regarding fracture stability. When 2 points appear to provide stable fixation, the potential benefits of a third point should be weighed against the cost, operative time, and exposure/periosteal stripping on a case-by-case basis.
- Breast carcinoma metastatic to the bilateral orbits. [Journal Article]
- OOrbit 2019 May 06; :1
- [Melanosis of adipose tissue in a 17-month-old German Fleckvieh bull (Bos taurus)]. [Journal Article]
- TPTierarztl Prax Ausg G Grosstiere Nutztiere 2019; 47(2):121-124
- At meat inspection of a 17-month-old bull (German Fleckvieh), patchy dark discoloration of various organs and tissue sites was noted that was most prominent in perirenal adipose tissue. Microscopic a…
At meat inspection of a 17-month-old bull (German Fleckvieh), patchy dark discoloration of various organs and tissue sites was noted that was most prominent in perirenal adipose tissue. Microscopic analysis revealed melanosis, that is a congenital melanocytic dystopia, as the underlying cause. To the best of our knowledge, this is the first case of melanosis detected in adipose tissue in cattle. We speculate that there is a possible pathogenetic link between obesity and melanosis in the animal.
- A clinical and genetic study of 16 Japanese families with Waardenburg syndrome. [Journal Article]
- GENEGene 2019 Jul 01; 704:86-90
- The purpose of this study is to profile the clinical and genetic features of Japanese Waardenburg syndrome (WS) patients and validate the W index. Sixteen Japanese WS families with congenital sensori…
The purpose of this study is to profile the clinical and genetic features of Japanese Waardenburg syndrome (WS) patients and validate the W index. Sixteen Japanese WS families with congenital sensorineural hearing loss were included in the study. The inner canthal, interpupillary, and outer canthal distances (ICD, IPD, and OCD) were measured for all patients, and patients were screened for presence of PAX3, MITF, SOX10, and EDNRB mutations. The WS patients were clinically classified under the current W index as follows: 13 families with WS1, 2 families with WS2, and 1 family with WS4. In the 13 WS1 families, genetic tests found PAX3 mutations in 5 families, MITF mutations in 4 families, SOX10 mutations in 3 families, and EDNRB mutations in 1 family. 61% of clinically classified WS1 patients under the current W index conflicted with the genetic classification, which implies W index is not appropriate for Japanese population. Resetting the threshold of W index or novel index formulated with ethnicity matched samples is necessary for clinical classification which is consistent with genetic classification for WS patients with distinct ethnicity.
- Lateral rectus dermoid cyst presenting as incomitant esotropia. [Journal Article]
- OOrbit 2019 Jan 28; :1-4
- A 24-year-old male presented with decreased vision associated with inward deviation of his left eye since childhood and gradually progressive prominence of left eye for 6 months. Left eye examination…
A 24-year-old male presented with decreased vision associated with inward deviation of his left eye since childhood and gradually progressive prominence of left eye for 6 months. Left eye examination revealed visual acuity of 2/60, convergent squint with restricted abduction and medial dystopia. Computed tomography (CT) scan showed a well-circumscribed mass with fat fluid levels temporal to the optic nerve indistinguishable from the left lateral rectus. Intraoperatively, a well-encapsulated mass was identified within the lateral rectus muscle which was confirmed as dermoid cyst on histopathology. Patient subsequently underwent surgical correction of his esotropia and the final cosmetic outcome was satisfactory. Dermoid cysts are common orbital lesions usually found overlying suture lines. A dermoid cyst presenting within the ocular muscles is a rare entity. Deep dermoid cyst should be considered as one of the differentials for focal enlargement of extraocular muscles.
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- Orbital Roof Reconstruction Using Nylon Foil Implants. [Journal Article]
- OPOphthalmic Plast Reconstr Surg 2019 Jan 07
- CONCLUSIONS: Nylon foil implantation was an effective and inexpensive surgical technique for orbital roof reconstruction after tumor resection in this small series.