Objective:To explore the clinical manifestations and genetic basis for a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1 A (CMT1A).Methods:A patient admitted to the Department of Neurology, Xijing Hospital Affiliated to Air Force Medical University in June 2022 was selected as the study subject. Clinical data of the patient was collected, and 17 family members from four generations of this pedigree were traced based on pes arcuatus and atypical clinical symptoms. Neuroultrasound and genetic testing were carried out on available family members. Whole exome sequencing and multiple ligation-dependent probe amplification assay were carried out for the proband and some of the affected members of the pedigree.Results:The proband, a 15-year-old male, had presented with paroxystic limb pain with weakness, accompanied by pes cavus and hypertrophy of gastrocnemius muscles, without stork leg sign caused by muscles atrophy in the distal lower extremities. MRI has revealed no sign of fat infiltration in the muscles of both legs. Nerve conduction examination had indicated damages of the sensory and motor nerves of the limbs, mainly with demyelinating changes. Seven members of the pedigree had pes arcuatus, including 5 presenting with paroxysmal neuropathic pain and myasthenia in the limbs, whilst 2 were without any clinical symptoms. Neurosonography of the proband, his brother, father and aunt showed thickened peripheral nerves of the extremities with unclear bundle structure. Genetic analysis revealed a large repeat encompassing exons 1 to 5 of the PMP22 gene and flanking regions (chr17: 15133768_15502298) in some of the affected members, which was predicted to be pathogenic. Conclusion:The duplication of PMP22 gene was considered to be pathogenic for this CMT1A pedigree.

Objective To discuss the correlation between levels of hs-CRP,IL-6 and MMP-9 with cerebral microbleeding (CMB).Methods A total of 201 of non-acute ischemic cerebrovascular were collected and performed heal MRI+ susceptibility-weighted imaging(SWI).The patients were divided into the CMB group(49 cases) and non-CMB group(152 cases) according to the SWI examination results.The clinical data were recorded in the two groups.The levels of inflammatory mediators high-sensitivity C-reactive protein (hs-CRP),interleukin-6 (IL-6) and matrix metalloproteinase-9(MMP-9) were tested.The Logistic regression analysis was used to analyze the relation between the levels of hs-CRP,IL-6 and MMP-9 with cerebral microbleeding.Results The levels of inflammatory mediators hs-CRP,IL-6 and MMP-9 in the CMB group were significantly higher than those in the non-CMB group (P＜0.05).The logisticMultivariate logistic regression analysis showed that the levels of hs-CRP,IL-6 and MMP-9[OR value(95％CI):1.745(1.342-2.270),1.223(1.018-1.533),1.284(1.082-1.423),P＜0.05)] were the risk factors of CMB after adjusting the influence of age,sex and traditional risk factors.Conclusion The levels of inflammatory mediators hs-CRP,IL-6 and MMP-9 are closely associated with CMB,which participate in CMB occurrence.

Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.
Biomedical Research ; methods ; trends ; Cockayne Syndrome ; genetics ; DNA Damage ; DNA Repair ; genetics ; Genetic Predisposition to Disease ; genetics ; Humans ; Skin ; metabolism ; pathology ; radiation effects ; Trichothiodystrophy Syndromes ; genetics ; Ultraviolet Rays ; Xeroderma Pigmentosum ; genetics

OBJECTIVETo report on two children manifesting multiple cafe-au-lait spots suspected as neurofibromatosis type 1, and perform NF1 gene mutation analysis.

METHODSBlood samples were collected from the 2 children, their unaffected parents and 100 normal controls. The entire coding region of the NF1 gene was amplified by PCR and subjected to direct sequencing.

RESULTSIn patient 1, a novel frameshift mutation c.1948delT (p.Leu650TyrfsX38) was identified in exon 12 of the NF1 gene. And in patient 2, a previously reported nonsense mutation c.541C>T (p.Gln181X) was revealed in exon 4b. The same mutations were not detected in their unaffected parents or 100 normal controls.

CONCLUSIONThe two patients were diagnosed with neurofibromatosis type 1 by molecular genetic testing. The pathogenic mutations were c.1948delT and c.541C>T, respectively.

Adult ; Base Sequence ; Exons ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; Neurofibromatosis 1 ; genetics ; Neurofibromin 1 ; genetics ; Point Mutation

Objective To understand the incidence pattern of fall among older adults in Anhui province during 2006-2014,and provide scientific basis for intervention strategies and decision-making.Methods The incidence data of fall in elderly adults from 6 sentinel hospitals in 2 national injury surveillance areas in Anhui province between 2006 and 2014 were collected for this descriptive epidemiological analysis of the overall incidence trend,demographic characteristics,case distribution and clinical characteristics of fall cases in the elderly.Results The fall case number,the proportions of fall cases to injury cases and to overall fall cases in the elderly all increased from 2006 to 2014.The fall was the first cause of the elderly injury during the past 9 years.The sex ratio was 0.74 and the cases in males decreased with age.In both males and females,the cases in retirees and the jobless accounted for the highest proportions.The annual incidence peak was during August to October,and two daily incidence peaks were during 9 am-ll am and 16 pm-18 pm.The elderly falls mainly occurred at home (62.07％),and more females were affected than males (70.27％ vs.50.97％).Leisure activity and homework related falls accounted for 49.18％ and 28.67％ respectively,and more housework related falls occurred in females than in males.Contusion/abrasion was the first injury caused by fall in males (42.63％) and fracture was the first injury caused by fall in females (47.27％).Head was the first injury site in males (38.04％) and leg was the first injury site in females (29.29％).Most injuries caused by fall were mild (55.12％) and moderate (41.84％) in severity,but the proportions of moderate and severe cases increased gradually with age.Conclusion Fall in the elderly has become a public health problem.It is necessary to take targeted prevention and control measures according to the gender and age distributions of the fall in the elderly.

In this study, it is to compare the effectiveness of prevention against and treatment of doxorubicin (DOX) induced cardiotoxicity by dexrazoxane and schisandrin B (Sch B) in rats. Sprague-Dawley (SD) rats were randomly divided into the following 6 groups: normal saline group, DOX group, DOX+DEX group, DOX+Sch B (80 mg x kg(-1)) group, DOX+Sch B (40 mg x kg(-1)) group and DOX+Sch B (20 mg x kg(-1)) group. The results showed that Sch B could combat the increase of myocardial enzymes in peripheral blood, decrease of the enzyme activity of myocardial tissue antioxidant enzymes and disorders of systolic and diastolic function of heart in rats intravenously injected with doxorubicin (15 mg x kg(-1)). Sch B was better than DEX in protecting rat against DOX-induced the symptoms. Sch B could protect rat against DOX-induced acute cardiomyopathy and has clinical potential applications.

Objective To evaluate the value of the short-segment nerve conduction studies (SSCSs, inching test) in the diagnosis and localization of cubital tunnel syndrome (CubTS).Methods The clinical and electrophysiologic data of 46 patients (92 limbs from 32 men and 14 women, aged from 19 to 59 years, with average age of 41.2 years) with CubTS were collected.The symptoms occurred in unilateral arm in 41 patients and bilateral arms in 5 patients, involving 35 left arms and 16 right arms.SSCSs were performed in both arms in all the 46 patients.Sixty ulnar nerves were studied in 30 healthy control subjects using SSCSs.Results The 51 symptomatic arms with CubTS were abnormal in long segment motor nerve conduction studies.There were 68 abnormal arms ( 51 symptomatic arms, 17 asymptomatic arms ) in SSCSs.The lesions were located 2 cm proximal to the elbow-the elbow segment ( AE2-E ) in 41 arms (44.6%),the elbow-2 cm distal to the elbow segment (E-BE2) in 23 arms (25%), 4 cm proximal to the elbow-2 cm proximal to the elbow segment (AE4-AE2) in 18 arms (19.6%), 6 cm proximal to the elbow-4 cm proximal to the elbow segment (AE6-AE4) in 9 arms (9.8%), 2 cm distal to the elbow-4 cm distal to the elbow segment (BE2-BE4) in 8 arms(8.6%) and 4 cm distal to the elbow-6 cm distal to the elbow segment (BE4-BE6) in 6 arms(6.5%),respectively.Conclusions SSCSs are more sensitive in detecting CubTS than the conventional long segment motor conduction studies.SSCSs could precisely localize the entrapment lesions in patients with CubTS ,might be a useful tool for the detection of ulnar mononeuropathy at the elbow, especially for diagnosing the patients with CubTS who have no clinical features or have a normal long segmental nerve conduction findings.

Palmitoleic acid (16:1delta9), an unusual monounsaturated fatty acid, is highly valued for human nutrition, medication and industry. Plant oils containing large amounts of palmitoleic acid are the ideal resource for biodiesel production. To increase accumulation of palmitoleic acid in plant tissues, we used a yeast (Saccharomyees cerevisiae) acyl-CoA-delta9 desaturase (Scdelta9D) for cytosol- and plastid-targeting expression in tobacco (Nicotiana tabacum L.). By doing this, we also studied the effects of the subcellular-targeted expression of this enzyme on lipid synthesis and metabolism in plant system. Compared to the wild type and vector control plants, the contents of monounsaturated palmitoleic (16:1delta9) and cis-vaccenic (18:1delta11) were significantly enhanced in the Scdelta9D-transgenic leaves whereas the levels of saturated palmitic acid (16:0) and polyunsaturated linoleic (18:2) and linolenic (18:3) acids were reduced in the transgenics. Notably, the contents of 16:1delta9 and 18:1delta11 in the Scdelta9D plastidal-expressed leaves were 2.7 and 1.9 folds of that in the cytosolic-expressed tissues. Statistical analysis appeared a negative correlation coefficient between 16:0 and 16:1delta9 levels. Our data indicate that yeast cytosolic acyl-CoA-delta9 desaturase can convert palmitic (16:0) into palmitoleic acid (16:1delta9) in high plant cells. Moreover, this effect of the enzyme is stronger with the plastid-targeted expression than the cytosol-target expression. The present study developed a new strategy for high accumulation of omega-7 fatty acids (16:1delta9 andl8:1delta11) in plant tissues by protein engineering of acyl-CoA-delta9 desaturase. The findings would particularly benefit the metabolic assembly of the lipid biosynthesis pathway in the large-biomass vegetative organs such as tobacco leaves for the production of high-quality biodiesel.
Fatty Acid Desaturases ; genetics ; metabolism ; Fatty Acids, Monounsaturated ; metabolism ; Plants, Genetically Modified ; Recombinant Proteins ; genetics ; metabolism ; Saccharomyces cerevisiae ; enzymology ; Saccharomyces cerevisiae Proteins ; genetics ; metabolism ; Tobacco ; genetics ; metabolism

Objective To analyze the features of the latency and interval in somatosensory evoked potentials (SEP) of the upper limbs in subacute combined degeneration(SCD),and evaluate the SEP of the upper limbs in the diagnosis of SCD.Methods Thirty-four defined SCD patients and 22 healthy controls were included in this study.The patients underwent the SEP test and the magnetic resonance imaging(MRI)of spinal cord.The SEP results of the patients were compared with those of the controls.The results of the SEP,which were divided into the peripheral part and central part to be evaluated,were also compared with the related results of the SEP and MRI.Results Compared with the controls,the N9 ((10.80 ± 1.07) ms vs (10.23 ± 0.64) ms,t =3.223),P14 ((17.28 ± 2.56) ms vs (14.62 ± 0.84) ms,t =6.643),N9-P14 ((6.48±2.27) ms vs(4.40-0.58) ms,t =5.951) in the upper limbs and N9((12.11 ±0.83) ms vs (10.93±0.56) ms,t=5.690),P30((36.96±5.56) ms vs(30.37±2.20) ms,t=7.217),P38 ((46.94 ±5.83) ms vs(39.80 ±2.54) ms,t =7.353) in the lower limbs of SCD patients were prolonged (all P ＜0.01),however,the P14-N20 was prolonged without statistical significance.The abnormality of SEP was 80.9％ (110/136),in which the abnormality of the upper limbs was 85.3％ (58/68)while that of the lower limbs was 76.5％ (52/68).N9-P14 had the highest abnormality rate which was 72.1％ (49/68).The patients with SCD with normal N9 had prolonged N9-P14 ((5.98 ± 1.90) ms vs(4.40 ± 0.58) ms,t =5.267,P ＜ 0.01).Conclusions Subacute combined degeneration can involve not only the peripheral part of the somatosensory pathway but also the central part including the brainstem and brain.In the SEP of upper limbs,N9-P14 has the highest abnormality rate which suggests that the part from cervical spinal cord to the brainstem may be the most vulnerable in SCD.The test of SEP in the upper limbs may provide evidence for the damage in the central part in SCD.

Objectives To report the clinical features and treatment in a case with paroxysmal diagonistic ideomotor apraxia after ischemic infarction of the corpus callosum.Methods The neuropsychological tests,brain MRI,the TCD and carotid duplex sonography were carried out in the patient who is right handed and had had presentation of paroxysmal diagonistic ideomotor apraxia for ten days.Results Neuropsychological tests confirmed the diagnosis of paroxysmal diagonistic apraxia in this patient.MRI showed ischemic infarction in the right corpus callosum.The symptomsin the patient were improved after the treatment with aspirin for three months.Conclusion The infarction of corpus callosum may induce paroxysmal diagonistic apraxia.