The Effect of (−)-Epigallo-catechin-(3)-gallate on Amyloidogenic Proteins Suggests a Common Mechanism

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

Download Full-text

STUDY OF PEDIATRIC INJURIES: PATTERNS AND OUTCOME

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v3i8.485 ◽

2019 ◽

Vol 3 (8) ◽

Author(s):

Yasir. B. Elshambaty

Keyword(s):

School Level ◽

Common Mechanism ◽

Injury Patterns ◽

Severe Injuries ◽

Injured Child ◽

Cross Sectional ◽

Pediatric Injuries ◽

Pediatric Injury ◽

The Common ◽

Structured Questionnaire

Purpose this study aims to show the patterns and outcome of pediatric injury among those living in Albaha region in Saudi Arabia Methods this is a cross-sectional descriptive household-based study, included children between 0-17 years old both male and female. The data were collected with structured questionnaire between 20 Nov – 20 Dec 2018 and analyzed with SPSS version 25 Results the total of participants was 257 injured child. 199(77.4%) are male and 58(22.6%) are female. About 44%of them were injured at pre-school level and 56% were traumatized at school age. The least incidence of injury occurred in those less than 2 yrs and higher incidence in those between 3-10 yrs old. The most common mechanism of injury was falling from height. The most affected group age by RTA accidents was 11-17 yrs old. Approximately 83% of the injured children required hospital management. Only one third of the injuries were associated complications. The most common injured anatomic part was the upper limb and the least affected part was the spine. Only 5% of the injuries were associated with a disability and the common was loss of organ or part of it. Paralysis occurred in less than 1% and head injury resulted in disabilities more than 1%. Conclusion the vast majority of the injuries in our participants are not serious. The severe injuries were associated with RTA-related trauma. Most of injuries due to falling from height are not serious. We recommend not to allow the children to drive cars. Keywords: pediatric injuries; injury patterns; household.

Download Full-text

A common mechanism links activities of butyrate in the colon

10.26434/chemrxiv.5414065.v1 ◽

2017 ◽

Author(s):

Mohit S. Verma ◽

Michael J. Fink ◽

Gabriel L Salmon ◽

Nadine Fornelos ◽

Takahiro E. Ohara ◽

...

Keyword(s):

Stem Cells ◽

Histone Deacetylases ◽

Biological Activities ◽

Short Chain Fatty Acids ◽

Common Mechanism ◽

Epithelial Stem Cells ◽

Degree Of Unsaturation ◽

Structure Activity ◽

Starting Point ◽

New Compounds

Two biological activities of butyrate in the colon (suppression of proliferation of colonic epithelial stem cells and inflammation) correlate with inhibition of histone deacetylases. Cellular and biochemical studies of molecules similar in structure to butyrate, but different in molecular details (functional groups, chain-length, deuteration, oxidation level, fluorination, or degree of unsaturation) demonstrated that these activities were sensitive to molecular structure, and were compatible with the hypothesis that butyrate acts by binding to the Zn<sup>2+</sup> in the catalytic site of histone deacetylases. Structure-activity relationships drawn from a set of 36 compounds offer a starting point for the design of new compounds targeting the inhibition of histone deacetylases. The observation that butyrate was more potent than other short-chain fatty acids is compatible with the hypothesis that crypts evolved (at least in part), to separate stem cells at the base of crypts from butyrate produced by commensal bacteria.

Download Full-text