Effects of foot reflexology on disease

In this article,we review a recently published article to explore the significance of foot reflexology in modern medical practice.With the advancement of modern medicine,we are increasingly committed to finding the specific physiological mechanisms of foot reflexes to treat diseases,thereby better proving the therapy’s effectiveness.It has been reported that foot reflexes can activate the cerebral cor-tex and organs corresponding to the feet,stimulating blood flow,nutrition and nerves through neural and endocrine regulation to achieve the purpose of treating and preventing diseases and promoting health.The therapy shows unique po-tential and value,and provides a new perspective on integrating traditional me-dicine and modern medicine.

Predicting cholecystocholedochal fistulas in patients with Mirizzi syndrome undergoing endoscopic retrograde cholangiopancreatography

BACKGROUND Mirizzi syndrome(MS) is defined as an extrinsic compression of the extrahepatic biliary system by an impacted stone in the gallbladder or the cystic duct leading to obstructive jaundice. Endoscopic retrograde cholangiopancreatography(ERCP) could serve diagnostic and therapeutic purposes in patients with MS in addition to revealing the relationships between the cystic duct, the gallbladder, and the common bile duct(CBD). Cholecystectomy is a challenging procedure for a laparoscopic surgeon in patients with MS, and the presence of a cholecystocholedochal fistula renders preoperative diagnosis important during ERCP.AIM To evaluate cholecystocholedochal fistulas in patients with MS during ERCP before cholecystectomy.METHODS From 2004 to 2018, all patients diagnosed with MS during ERCP were enrolled in this study. Patients with associated malignancy or those who had already undergone cholecystectomy before ERCP were excluded. In total, 117 patients with MS diagnosed by ERCP were enrolled in this study. Among them, 21 patients with MS had cholecystocholedochal fistulas. MS was further confirmed during cholecystectomy to check if cholecystocholedochal fistulas were present. The clinical data, cholangiography, and endoscopic findings during ERCP were recorded and analyzed.RESULTS Gallbladder opacification on cholangiography is more frequent in patients with MS complicated by cholecystocholedochal fistulas(P < 0.001). Pus in the CBD and stricture length of the CBD longer than 2 cm were two additional independent factors associated with MS, as demonstrated by multivariate analysis(odds ratio 5.82, P = 0.002;0.12, P = 0.008, respectively).CONCLUSION Gall bladder opacification is commonly seen in patients with MS with cholecystocholedochal fistulas during pre-operative ERCP. Additional findings such as pus in the CBD and stricture length of the CBD longer than 2 cm may aid the diagnosis of MS with cholecystocholedochal fistulas.

Identification of 1q21.1 microduplication in a family:A case report

BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders,autism spectrum disorders,congenital malformations,and congenital heart defects with genetic heterogeneity.CASE SUMMARY We reported a pediatric patient with 1q21.1 microduplication syndrome,and carried out a literature review to determine the correlation between 1q21.1microduplication and its phenotypes.We summarized the patient’s medical history and clinical symptoms,and extracted genomic DNA from the patient,her parents,elder brother,and sister.The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period.Whole exon sequencing and whole genome low-depth sequencing(CNV-seq)were then performed.Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region,which was located in the 1q21.1 region.Family analysis showed that the pathogenetic duplication fragment,which was also detected in her elder brother’s DNA originated from the mother.CONCLUSION Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome,which is of great significance for genetic counseling and early intervention.

De novo mutation of NAXE(APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1:A case report

BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE(or APOA1BP)-related defects.CASE SUMMARY The patient was a girl aged 2 years and 10 mo.She was hospitalized due to walking disorder for>40 d.The clinical manifestations were ataxia,motor function regression,hypotonia,and eyelid ptosis.Within 1 mo of hospitalization,she developed sigh breathing,respiratory failure,cerebellar edema and brain hernia,and finally she died.Changes were found in cranial imaging,including cerebellar edema accompanied by symmetrical myelopathy.Through whole exome sequencing,we detected NAXE compound heterozygous variation(NM 144772.3)c.733A>C(p.Lys245Gln,dbSNP:rs770023429)and novel variation c.370G>T(p.Gly124Cys)in the germline gene.The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1.CONCLUSION This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in China' Mainland.The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.