Auxiliary-Assisted Palladium-Catalyzed Direct C(sp³)–H Sulfonamidation To Afford 1,2-Amino Alcohol Derivatives

An auxiliary-assisted Pd-catalyzed C­(sp³)–H sulfonamidation approach using NFSI as both nitrogen source and oxidant to afford 1,2-amino alcohol derivatives is described in this paper. This method is novel and attractive because of its high yields, wide range of substrate scopes, and good tolerance for many functional groups. Oximido and sulfonyl group can be removed with this method

Additional file 2: of Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

Summary of gene variants detected by targeted sequencing. (DOCX 29 kb

Additional file 1: of Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

List of genes responsible for ARCA. (DOCX 28 kb

Synthesis of Benzofused Five-Ring Sultams via Rh-Catalyzed C–H Olefination Directed by an <i>N</i>‑Ac-Substituted Sulfonamide Group

A Rh-catalyzed <i>N</i>-Ac-sulfonamide group directed C–H olefination–cyclization to afford benzofused five-ring sultam is described with high yield and a wide range of substrate scope. The <i>N</i>-acetyl group is a key for this transformation implying that N–H acidity is the major influence. The acetyl group is removed under mild conditions in excellent yield to provide <i>NH</i>-free sultam that can be transformed into various benzofused five-ring sultam analogues via acylation, nucleophilic substitution, and Mitsunobu alkylation

Video1_Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.MP4

Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. So far, only eleven mutations in the DHDDS gene have been identified. The mutation spectrum of the DHDDS gene in the Chinese population remains unclear.Methods: In this study, we enrolled a Chinese family with myoclonus and/or epilepsy and intellectual disability. The epilepsy and myoclonic tremor were improved after deep brain stimulation (DBS) of the subthalamic nucleus (STN) treatment. Whole exome sequencing and Sanger sequencing were employed to explore the genetic variations of the family.Results: Subsequent to data filtering, we identified a recurrent pathogenic mutation (NM_001243564.1, c.113G>A/p.R38H) in the DHDDS gene in the proband. Sanger sequencing further validated that the presence of the mutation in his affected mother but absent in the health family members. Further bioinformatics analysis revealed that this mutation (p.R38H), located in an evolutionarily conserved region of DHDDS, was predicted to be deleterious.Discussion: In this report, we present the first case of intractable epilepsy and/or myoclonus caused by p.R38H mutation of the DHDDS gene in the Chinese population. Furthermore, this study represents the third report of autosomal dominant familial inheritance of DHDDS mutation worldwide.</p

Tandem Chloropalladation/Cyclization and Dearomative Cyclization toward Functionalized Tricyclic Bridged [3.2.1] Skeleton Compounds

A palladium-catalyzed tandem reaction is reported that involves chloropalladation/cyclization and dearomative cyclization to construct a tricyclic bridged [3.2.1] carbocyclic-skeleton and oxa- and aza-skeletons. In this domino process, a level of ring strain and other competitive reactions, i.e., protonolysis, β-hydride elimination, and chlorination of the C–Pd bond, were suppressed to the lowest level under mild reaction conditions

Table2_Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.DOCX

Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. So far, only eleven mutations in the DHDDS gene have been identified. The mutation spectrum of the DHDDS gene in the Chinese population remains unclear.Methods: In this study, we enrolled a Chinese family with myoclonus and/or epilepsy and intellectual disability. The epilepsy and myoclonic tremor were improved after deep brain stimulation (DBS) of the subthalamic nucleus (STN) treatment. Whole exome sequencing and Sanger sequencing were employed to explore the genetic variations of the family.Results: Subsequent to data filtering, we identified a recurrent pathogenic mutation (NM_001243564.1, c.113G>A/p.R38H) in the DHDDS gene in the proband. Sanger sequencing further validated that the presence of the mutation in his affected mother but absent in the health family members. Further bioinformatics analysis revealed that this mutation (p.R38H), located in an evolutionarily conserved region of DHDDS, was predicted to be deleterious.Discussion: In this report, we present the first case of intractable epilepsy and/or myoclonus caused by p.R38H mutation of the DHDDS gene in the Chinese population. Furthermore, this study represents the third report of autosomal dominant familial inheritance of DHDDS mutation worldwide.</p

Table1_Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.docx

Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. So far, only eleven mutations in the DHDDS gene have been identified. The mutation spectrum of the DHDDS gene in the Chinese population remains unclear.Methods: In this study, we enrolled a Chinese family with myoclonus and/or epilepsy and intellectual disability. The epilepsy and myoclonic tremor were improved after deep brain stimulation (DBS) of the subthalamic nucleus (STN) treatment. Whole exome sequencing and Sanger sequencing were employed to explore the genetic variations of the family.Results: Subsequent to data filtering, we identified a recurrent pathogenic mutation (NM_001243564.1, c.113G>A/p.R38H) in the DHDDS gene in the proband. Sanger sequencing further validated that the presence of the mutation in his affected mother but absent in the health family members. Further bioinformatics analysis revealed that this mutation (p.R38H), located in an evolutionarily conserved region of DHDDS, was predicted to be deleterious.Discussion: In this report, we present the first case of intractable epilepsy and/or myoclonus caused by p.R38H mutation of the DHDDS gene in the Chinese population. Furthermore, this study represents the third report of autosomal dominant familial inheritance of DHDDS mutation worldwide.</p

CEUS renal perfusion images.

<p>CEUS renal perfusion images were converted into a time-intensity curve (TIC) by Q-LAB quantification software, which was generated from the region of interest (ROI). (a) TIC of dog’s right kidney before operation. (b) TIC of dog’s right kidney 5 weeks after the placement of AC. (c) TIC of dog’s right kidney 7 weeks after the placement of AC. TIC showed weekly delayed enhancement and perfusion in the renal perfusion curve. The slope rate of ascending curve was lower and descending curve was higher. It took more time to reach the peak intensity.</p

Pathologic changes of vessel inside and outside AC.

<p>(a) Vessel outside AC: slight hyperplasia of the vascular smooth muscle. (b) Vessel inside AC: Obvious hyperplasia of the vascular smooth muscle, narrowing of the renal artery with wall thickening. (hematoxylin and eosin, original magnification ×40).</p