ABSTRACT
Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed.
ABSTRACT
The melanocortin-4 receptor (MC4R) gene codes for a G protein transmembrane receptor playing an important role in energy homeostasis control. In pig a single nucleotide polymorphism c.1426G>A has been identified and associated to average daily gain, feed intake and fatness traits but a lack of agreement on the effects of the gene on carcass traits in different breeds comes out from many studies. In the present study the c.1426G>A polymorphism is analysed in two Italian pig breeds, Large White and Duroc to study the association of the MC4R gene with some carcass traits. The results show that the c.1426G>A polymorphism affects daily gain, feed conversion ratio and ham weight in both breeds, lean cuts in the Italian Duroc and backfat thickness in the Italian Large White. The presence of MC4R mRNA transcript in different porcine tissues was analysed.
Subject(s)
Meat , Polymorphism, Single Nucleotide , Receptor, Melanocortin, Type 4/genetics , Swine/genetics , Animals , Body Weight , Breeding , DNA/isolation & purification , Female , Gene Expression Profiling/methods , Gene Expression Regulation , Gene Frequency , Genotype , Italy , Male , Muscle, Skeletal , Phenotype , RNA, Messenger/genetics , RNA, Messenger/metabolism , Receptor, Melanocortin, Type 4/metabolismABSTRACT
A palatal expansion prosthesis made of cast silver can be easily fabricated at any facility that has the ability to cast type III gold. The ductility and malleability of pure silver allow for ease of adaptation or alteration as a chairside or operating room procedure.
Subject(s)
Palatal Expansion Technique/instrumentation , Equipment Design , Humans , SilverABSTRACT
A procedural outline has been presented for the accomplishment of a diagnostic wax-up as a preliminary step to actual preparation of the teeth as suggested by the proponents of gnathologic techniques. 8.9) The use of this technique will decrease the possibility of error in the construction of any extensive fixed partial denture prosthesis. The success of any procedure required the willingness of general dentists and specialists to, 'Spend more time planning than doing.'
