Orodental, ear and eye anomalies in Egyptian Brachmann de Lange syndrome cases

The Brachmann de Lange syndrome (BDLS), first described in its full clinical presentation by Brachmann (1916) and Cornelia de Lange (1933) is a multi-system syndrome involving congenital malformations, growth retardation and neurodevelopmental delay. We describe here twelve Egyptian cases with this syndrome with emphasis on the orodental, ear and eye abnormalities and their relation to the severity of expreseion of the disorder. The crodental anomalies were high arched palate, Iong philtrum, micrognathia, macrostomia hypoplasia of upper anterior teceth, fissured tongue macroglossia. Ear malformations were low-set large ears. Otoscopy revealed normal drum appearance. Audiogram revealed conductive, sensorineural or mixed hearing loss. Ocular manifestations were nystagmus, convergentt squint, enophthalmos, myopia 8 blue scleca. The study emphasizes certain eye, ear and crodental anomalies as diagnostic features of the BDLS which correlate with the severity of expression of the syndrome. None of the cases had chromosomal aberrations and the parental consanguinity rate was not increased thus supporting dominant mutations or minor chromosomal etiology.     

应用改进的眼震图检查先天性眼球震颤

目的评价改进后的眼震图对先天性眼球震颤波形的分析,为其手术治疗提供较为精确的量化标准.方法改进电生理仪的视网膜电图(EOG)程序,分别记录68例患者33cm原在位、右5°、10°、15°、20°,左5°、10°、15°、20°,3m原在位及闭眼的波形,并对其中28例手术患者术前和术后的眼震图进行比较.结果68例患者中,跳动型48例,其中水平跳动46例,垂直跳动2例;水平钟摆型20例.跳动型中,有代偿头位的40例,钟摆型无明显代偿头位.28例手术患者中,水平跳动型26例,水平钟摆型2例.26例跳动型患者均有中间位和代偿头位.术后20例代偿头位消失,6例代偿头位在左5°～10°.按震频、振幅、震强的分组中,处于中等震频、振幅、震强范围内的多见.结论改进的眼震图可以对眼震的振幅、震频、震强、中间位进行量化的检测,从而指导其治疗.     

In vitro and in vivo antifungal activities of the eight steroid saponins from Tribulus terrestris L. with potent activity against fluconazole-resistant fungal pathogens

Antifungal activity of natural products is being studied widely. Saponins are known to be antifungal and antibacterial. We have isolated eight steroid saponins from Tribulus terrestris L. , namely TTS-8, TTS-9, TTS-10, TTS-11, TTS-12, TTS-13, TTS-14 and TTS-15. TTS-12 and TTS-15 were identified as tigogenin-3-O-β-D-xylopyranosyl（1→ 2）-[-β-D-xylopyranosyl（ 1 → 3 ） 3-β- D-glucopyranosyl （ 1 → 4 ）- 1- α-L-rhamnopyranosyl （ 1 → 2 ） 3-β-D-galactopyranoside and tigogenin-3-O-β-D-glucopyranpyranosyl（1→2）-[-β-D-xylopyranosyl（1→ 3）3-β-D-glucopyranosyl（1→4）-β-D-galactopyranoside, respectively. The in vitro antifungal activities of the eight saponins against six fluconazole-resistant yeasts, Candida albicans, Candida glabrata, Candida para psilosis , Candida tropicalis , Candida krusei , and Cryptococcus neo f ormans were studied using microbroth dilution assay. The results showed that TTS-12 and TTS-15 were very effective against several pathogenic candidal species and C. neoformans in vitro. It is noteworthy that TTS-12 and TTS-15 were very active against fluconazole-resistant C. albicans （MIC80 = 4.4, 9.4 mg/ml）, C. neoformans （MIC80 =10.7, 18.7 mg/ml） and inherently resistant C. krusei （MIC80 =8.8, 18.4 mg/ml）. So in vivo activity of TTS-12 in a vaginal infection model with fluconazole-resistant C. albicans was studied in particular. Our studies revealed TTS-12 also showed in vivo activities against fluconazole-resistant yeasts. In conclusion, steroid saponins TTS-12 and TTS-15 from Tribulus terrestris L. have significant in vitro antifungal activity against fluconazole-resistant fungi, especially TTS-12 also showed in vivo activity against fluconazole-resistant C. albicans.     

Diagnostic and Severity-Tracking Biomarkers for Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder afflicting about one in every 68 children. It is behaviorally diagnosed based on a triad of symptoms, including impairment in communication, impairment in sociability and abnormal and stereotypic behavior. The subjectivity of behavioral diagnosis urges the need for clinical biomarker tests to improve and complement ASD diagnosis and treatment. Over the past two decades, researchers garnered a broad range of biomarkers associated with ASD and often correlating with the severity of ASD, which includes metabolic and genetic biomarkers or neuroimaging abnormalities. Metabolic biomarkers are either involved in key pathways such as a trans-sulfuration pathway or produced due to the derangement of these pathways in the case of oxidative stress. Recent studies reported several genetic abnormalities related to ASD, encompassing various mechanisms, from copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) to chromosomal anomalies. However, it is still premature to consider these genetic variants as true biomarkers for ASD, due to their low reproducibility and regional-specific nature. Herein, we comprehensively review state of the art about major biomarkers reported in ASD and the association of some biomarkers with ASD symptoms and severity. It is important to establish those biomarkers to be able to help in the diagnosis and to optimize the treatment of ASD.