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Objective:Evaluate the influence of different pressure transmission media of urodynamic water filled catheter(WFC) and air charged catheter(ACC) on the pressure measurement results to determine whether they can be used interchangeably.Methods:The results of 2 147 patients who underwent urodynamic examination in our hospital from January 2014 to December 2020 were retrospectively analyzed. A total of 2 538 times of bladder manometry data were obtained, including 1 299 times in WFC group, 856 times in male and 443 times in female, aged 37(24, 50)years, course of disease 1.2(0.4, 5.0) years, 1 130 times in neurogenic bladder(NB)and 169 times in non-neurogenic bladder(N-NB); In ACC group, there were 1 239 times, 773 times for male and 466 times for female, with age of 37(24, 55)years, course of disease of 1.5(0.5, 6.0)years, 1 040 times for Nb and 199 times for N-NB. There was no significant difference in baseline data of general clinical data between the two groups. The intravesical pressure(Pves), intra-abdominal pressure(Pabd)and detrusor pressure(Pdet) of WFC and ACC patients during filling and urination were analyzed. For traumatic spinal cord injury(SCI) and idiopathic patients, the two sets of pressure measurement data were analyzed separately. Nonparametric test and Chi-square test were used to compare the Pves, Pabd, and Pdet recorded by the two manometry catheters before, at the end and after urination, the maximum detrusor pressure at DO(Pdet.max-DO), and the maximum detrusor pressure during spontaneous urination (Pdet. max) and the detrusor pressure (Pdet.Qmax) corresponding to the maximum urine flow rate, the maximum urethral pressure (MUP) and the maximum urethral closure pressure (MUCP) during resting urethral pressure profile, and the initial cough Pdet signal pattern (typeⅠ, typeⅡand typeⅢ).Results:Regardless of the cause, the Pabd values measured by ACC were significantly higher than WFC before filling, end filling and after voiding[18(10, 26)cmH 2O vs.15(11, 21)cmH 2O; 23(16, 31)cmH 2O vs. 20(14, 26)cmH 2O; 23(15, 31)cmH 2O vs.18(12, 24)cmH 2O], and Pdet were significantly lower than WFC[0(0, 0) cmH 2O vs. 0(0, 1)cmH 2O; 5(1, 13)cmH 2O vs. 9(4, 17)cmH 2O; 6(1, 12)cmH 2O vs. 7(3, 14)cmH 2O]. In the initial cough state, Pves and Pabd increase value were also significantly lower than that of WFC [22(12, 36)cmH 2O vs. 23(14, 38)cmH 2O; 20(10, 33)cmH 2O vs. 21(12, 36)cmH 2O]. The Pves measured by ACC was also significantly higher than WFC before filling and after voiding[18(10, 27)cmH 2O vs. 16(11, 21)cmH 2O; 30(22, 39)cmH 2O vs. 26(20, 36)cmH 2O]. Maximum urethral pressure (MUP) and maximum urethral closure pressure (MUCP) measured by ACC were significantly higher than WFC [91(69, 118)cmH 2O vs.81(64, 106)cmH 2O; 77(55, 103)cmH 2O vs. 68(48, 91)cmH 2O], and there were no significant differences in Pdet.max-DO、Pdet.max和Pdet.Qmax. For patients with traumatic SCI, the Pves measured by ACC was significantly higher than WFC before filling[15(10, 24)cmH 2O vs. 14(10, 20)cmH 2O], and only MUP was significantly higher than WFC in the measurement of urethral pressure[95(71, 119)cmH 2O vs. 85(65, 112)cmH 2O], and there were no significant differences in Pdet.max-DO, Pdet.max, Pdet.Qmax and MUCP. For idiopathic patients, Pves measured by ACC before filling and after urination were significantly higher than WFC[25(20, 29)cmH 2O vs. 18(11, 23)cmH 2O; 35(29, 44)cmH 2O vs. 28(20, 38)cmH 2O], while Pdet.max-DO, Pdet.max, Pdet.Q max, MUP and MUCP were not significantly different in different pressure measurement systems. For the comparison of the initial cough Pdet signal pattern, ACC is easier to detect type Ⅰ, and WFC is easier to detect type Ⅱ and type Ⅲ. Conclusions:Compared with WFC, ACC measured higher Pves and Pabd and lower Pdet in resting state, and lower Pves and Pabd in initial cough state. The pressure values and signal pattern measured by WFC and ACC are not completely consistent, so they cannot be used interchangeably.
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Objective@#To summarize the clinical characteristics of a patient with cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome, followed by relative literature review.@*Methods@#The medical history, physical examination and results of relative auxiliary examinations were collected from a CAPOS syndrome patient, who was definitely diagnosed by gene detection.@*Results@#The patient was a 20-year-old male, complaining of poor coordination for 19 years, impaired vision for 15 years and hearing loss for 13 years. When he was eleven months old, weakness of four limbs happened after diarrhea but recovered spontaneously a few days later. Then his poor coordination was discovered. His vision has decreased progressively since the age of five and he began to suffer from bilateral hearing loss after fever at the age of seven. Anti-infectious and immunoregulatory treatment was ineffective at that time. Physical examination showed that bilateral visual acuity decreased. Transient horizontal gaze-evoked nystagmus and bilateral hearing loss were detected. Obvious shaking was observed with closed eyes and toes together. Finger-to-nose, finger tracking, heel-knee-tibia and alternate motion tests were slightly inaccurate. Deep tendon reflexes disappeared and no pes cavus was observed. Pure tone audiometry revealed bilateral sensorineural hearing loss. Cranial magnetic resonance imaging indicated bilateral optic atrophy. ATP1A3 gene detection in the patient showed c. 2452G>A (p. Glu818Lys) heterozygous mutation while his parents were detected no such mutation in the same locus.@*Conclusions@#As for young patients who suffer from acute cerebellar ataxia after fever, disappeared tendon reflexes, atrophy of optic nerves or sensorineural hearing loss, they should be alerted to CAPOS syndrome when immunomodulating or anti-inflammatory therapy has been proved to be useless. Positive family history and ATP1A3 gene mutation would be beneficial to definite diagnosis.
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Objective To summarize the clinical characteristics of a patient with cerebellar ataxia,areflexia,pes cavus,optic atrophy and sensorineural hearing loss (CAPOS) syndrome,followed by relative literature review.Methods The medical history,physical examination and results of relative auxiliary examinations were collected from a CAPOS syndrome patient,who was definitely diagnosed by gene detection.Results The patient was a 20-year-old male,complaining of poor coordination for 19 years,impaired vision for 15 years and hearing loss for 13 years.When he was eleven months old,weakness of four limbs happened after diarrhea but recovered spontaneously a few days later.Then his poor coordination was discovered.His vision has decreased progressively since the age of five and he began to suffer from bilateral hearing loss after fever at the age of seven.Anti-infectious and immunoregulatory treatment was ineffective at that time.Physical examination showed that bilateral visual acuity decreased.Transient horizontal gaze-evoked nystagmus and bilateral hearing loss were detected.Obvious shaking was observed with closed eyes and toes together.Finger-to-nose,finger tracking,heel-knee-tibia and alternate motion tests were slightly inaccurate.Deep tendon reflexes disappeared and no pes cavus was observed.Pure tone audiometry revealed bilateral sensorineural hearing loss.Cranial magnetic resonance imaging indicated bilateral optic atrophy.ATP1A3 gene detection in the patient showed c.2452G＞A (p.Glu818Lys) heterozygous mutation while his parents were detected no such mutation in the same locus.Conclusions As for young patients who suffer from acute cerebellar ataxia after fever,disappeared tendon reflexes,atrophy of optic nerves or sensorineural hearing loss,they should be alerted to CAPOS syndrome when immunomodulating or anti-inflammatory therapy has been proved to be useless.Positive family history and ATP1A3 gene mutation would be beneficial to definite diagnosis.
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Objective To evaluate the clinical manifestations, metal metabolism, imaging characteristics and treatment response in patients with delayed Wilson disease (WD). Methods Patients with untreated WD (40 with delayed onset and 40 with non?delayed onset) were enrolled. Twenty healthy people were included as normal controls. All patients were evaluated with modified Young scale neural symptom scores, grade of Child liver function and mental symptoms rating scale, magnetic resonance imaging (MRI) scan, magnetic sensitive imaging (susceptibility weighted imaging, SWI), metal metabolism. Corrected phase (CP) was measured at SWI. After 2 week treatment, neurologic symptoms, liver function, and metal metabolism were reviewed. Results The total score of neurological symptoms in WD patients with delayed onset was lower than that of non?delayed onset (13.00 ± 6.87 vs. 21.13 ± 5.53, P=0.033). The scores of SCL?90 and HAMA depression scales in patients with delayed onset were lower than those of non?delayed onset. On T2 weighted imaging, areas including substantia nigra and thalamus, the caudate nucleus, globus pallidus, putamen presented high signal rate in patients with delated onset than those with non?delayed (P=0.022, 0.037, 0.022, 0.037, 0.029 respectively). The SWI CP values of cangbai sphere and shell nucleus in patients with delayed onset were lower than those with non?delayed onset. Patients with delayed onset had higher urinary copper than those with non?delayed onset before and after treatment (P=0.040, 0.036). After treatment, the score of abnormal tremor and gait in patients with delayed onset was decreased (P=0.037, 0.044), while as the occurrence of neurological symptoms was increased by 10%, and the liver function level in patients with delayed WD was decreased in 3 cases. Conclusions The brain of WD patients with delayed onset is mainly composed of metal deposits, however the cell damage is not apparent. Clinical symptoms are characterized by significant liver injury, but relatively mild neurological and psychiatric symptoms. Patients with delayed WD have higher urinary copper excretion than those with non?delayed WD. Chelating agents improves the neurological symptoms in patients with delayed onset.
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Objective To analyze the diagnosis and therapy of adult-onset type Ⅱ citrullinemia (CTLN2) and compare the clinical data before and after treatment.Methods The clinical data of one patient of CTLN2 from Department of Neurology , the First Affiliated Hospital, Sun Yat-sen University on 9th December 2015 were collected.Treatment plan was formulated and adjusted by long-term follow-up.Results The patient was a 23-year-old male, complaining of recurrent mental and behavior disorders.MMSE score was 16.Blood transaminase, ammonia and citrulline were elevated and abdomen CT showed fatty liver disease.Cranial MRI showed encephaledema and SLC 25A13 gene analysis showed 851-854delGTAT homozygous mutation.Arginine was given for treatment and reduced gradually.In two years of follow-up, the patient had no longer suffered from mental and behavior disorders.Blood transaminase and ammonia remained normal.Conclusions The diagnosis of CTLN2 should be considered when a patient suffers from recurrent mental and behavior disorders , elevated blood transaminase and ammonia.Arginine along with high protein, high fat and low carbohydrates diet can improve prognosis effectively.
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Objective To evaluate functional activity of the subcortical nuclei in Wilson's disease (WD) using resting state functional MRI (rs-fMRI),and to evaluate damage to the functional conjunction in the extracorticospinal tract in WD patients.Methods Twenty-two patients with WD (between January 2015 and January 2016),including 18 with cerebral type and 4 with hepatic type,and 20 age-matched healthy controls were enrolled.Neurological symptoms were scored using the modified Young Scale.Patients with cerebral type WD were divided into 4 subgroups.All study subjects underwent rs-fMRI of the brain.The values of amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (REHO) in the thalamus,caudate nucleus,putamen and globus pallidus were determined.The relationships between rsfMRI metrics and clinical status were evaluated.Results ALFF values were lower in the caudate nucleus,putamen and right thalamus of WD patients than in controls (t =-3.07,-3.00,-3.12,-2.46,-2.20;P =0.005,0.006,0.004,0.020,0.036),while REHO values were lower in the left caudate nucleus and left thalamus of WD patients (t =-2.38,-2.16;P =0.025,0.040).In the caudate nucleus (P =0.032,0.029,0.023),thalamus (P =0.022,0.041,0.035) ALFF values were lower in group 4 than in other groups.REHO values of the putamen (P =0.040,0.017,0.040) and thalamus (P =0.024,0.029 7,0.041) were higher in group 4 than in other groups.ALFF values in the caudate nucleus (t =-0.29,P=0.037),and thalamus (t =-1.77,P =0.042) were lower,and REHO values in the caudate nncleus (t =-1.46,P =0.040) were lower,in patients of cerebral type than in hepatic type patients.Conclusions The damage to the functional activity of the subcortical nuclei may occur in the WD patients.The functional activity of nuclei may be different between hepatic and cerebral type patients.Damage to the activity of neurons in the putamen and thalamus may correlate with psychiatric symptoms in WD patients.
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Objective To investigate the clinical manifestation, inherited pattern and the related factor of Hunting?ton disease families. Method The clinical data from 12 HD families was collected from 2013-2014. Patients received the genetic test and neurological evaluation including motor, cognitive and problem of behavior. Results There were 12 patients having the IT15 gene dynamic mutations, including 1 Juvenile Huntington disease patient and 3 pre-symptomat?ic mutant gene carriers. The average CAG repeats of these patients was between the range of 40 to 60, and the average on?set age ranged from 13 to 54 year-old. Positive family history and genetic anticipation could be observed. Patients pre?sented with different clinical manifestations at the early stage while had typical chorea movements, declined cognitive and psychiatric symptoms at the late stage of the illness. Conclusions There are typical triad symptoms in the late stage but not in the early stage nor pre-symptom stage illness. Clinical manifestation and the neuroimaging are both of great ref?erence value, and the genetic test is essential for final diagnosis.
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Objective To investigate the causative mutations of CYP27A1 gene in a sporadic cerebrotendinous xanthomatosis patient. Methods Genomic DNA was extracted from peripheral blood of the patient and her parents. All exons and splice sites of CYP27A1 gene were amplified by polymerase chain reaction (PCR) followed by Sanger sequenc-ing. 105 healthy unrelated subjects were also sequenced for the novel mutation in CYP27A1. Results A novel splice site mutation c.446+1G>T, a novel missense mutation c.877A>T(p.Met293Leu) and a known missense mutation c.1016C>T (p.Thr339Met) of CYP27A1 gene were identified in the patient. The mother carriers the two novel mutations and the fa-ther the c.1016C>T(p.Thr339Met) mutation. The two novel mutations were absent in 105 control subjects, respectively. Conclusions Our study detected two novel mutations, c.446+1G>T and c.877A>T, as well as a known mutation c.1016C>T, of CYP27A1 in a sporadic cerebrotendinous xanthomatosis patient. Our data provide novel information for the mutational spectrum of the gene, which is applicable in the genetic testing and diagnosis. The data also provide in-sight into the pathogenesis of the disease.
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Objective To enhance clinicians' intention to the importance of early diagnosis,early therapy and follow-up of type Ⅱ citrullinemia.Methods The clinical data of one adult-onset type Ⅱ citrullinemia pedigree were collected. The gene mutation type of SLC25A13 of proband and her daughter were determined by PCR and direct gene sequencing.Results The patient was a 27 years-old female,who complained of repeated dizziness, vomiting for more than 2 years and recurrent attacks of altered consciousness for about one and a half year.An abdominal ultrasonogram,liver magnetic resonance imaging and liver histology obtained by needle biopsy all determined the liver pathological changes of liver cirrhosis.Electroencephalogram showed sharp waves. The plasma amino acid showed a marked elevation of blood citrulline.Laboratory findings revealed a highly increased concentration of plasma ammonia during every episode. Mutation analysis of the SLC25A13 gene identified a homozygote of 851del4 in the patient,and heterozygote of 851del4 in her daughter. Conclusions For adults,unexplained dizziness,vomiting,but liver function still in the compensation,especially accompanied by neuropsychologic symptoms are highly suggestive of adult-onset type Ⅱ citrullinemia.SLC25A13 gene analysis contributes to the diagnosis of this disease,avoids invasive investigations and early confirmation of this disease means long-term dietary advice,genetic counseling,medical surveillance and early preparation for liver transplantation if is necessary.
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Objective To investigate the characteristics of regional cerebral glucose metabolism in patients with fatal familial insomnia(FFI) using 18F-fluorodeoxyglucose(18F-FDG) PET. Methods Patient 1 with symptoms for 2 months and patient 2 with symptoms for 6 months were studied by brain 18 F-FDG PET.Compared with 20 normal controls, the data were analyzed by visual analysis at first, and then each patient was compared with age-matched normal controls using statistical parametric mapping( SPM ). Results As compared with 10 normal controls, metabolic changes in patient 1 was characterized by hypometabolism in thalamus, parietal cortices, caudate nucleus, pre-frontal cortices and posterior cingulate gyrus ( t ＞ 2. 82,P ＜0. 01 ). In patient 2, these changes were more obvious (t ＞ 2. 82, P ＜ 0. 01 ) with metabolic decrease also shown in temporal and occipital cortices ( t ＞ 2. 82, P ＜ 0. 01 ). Conclusion In FFI patients, brain metabolism changes are mainly manifested as hypometabolism in thalamus and cerebral cortex. The metabolic changes in cerebral cortex will be more widely spread with the development of FFI. 18F-FDG PET imaging was a valuable method to evaluate patients with FFI.
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Objective To explore the mechanism of the secondary deterioration of neurological symptoms in Wilson' s disease (WD) at early stage of treatment using D-penicillamine. Methods Forty non-treated WD patients, 32 of encephalic and 8 hepatic type respectively, were enrolled in the study. Their neural symptoms were scored using modified Young grade. Cerebrospinal fluid (CSF) copper, serum copper, urinary copper, neuron specific enolase (NSE) in CSF and the albumin ratio CSF/serum (AR) were measured at the same time. After 3 months of treatment with D-penicillamine, neural symptoms of patients were scored again. All dates were analyzed. Results After 3 months of treatment with D-penicillamine, 15 patients (46. 9%) developed a secondary deterioration in neurological symptoms. The concentration of copper and the NSE in CSF of patients whose neural symptom was increasingly deteriorated. The serum copper declined after treatment((0. 37± 0. 09) vs (0. 25 ± 0. 08) mg/L, t = 3. 17, P < 0. 05). The 24 hours urinary copper of patients whose symptoms had deteriorated was much lower than that of patients who had not. No significant change was found in AR ratio before and after the treatment (9. 53 ± 3.18vs12.24±3.17) in the worsened group (t=1.45, P>0. 05). Conclusions The degree of the injury in the neural system and the dose of penicillamine may affect the deterioration of the neural symptom.
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BACKGROUND: It is of great importance to study the genotype distribution of hereditary ataxia in understanding its epidemiologic rule and pathogenetic pathway.OBJECTIVE: To analyze the distribution of different genotype of hereditary ataxia in south China.DESIGN: A case-control observation.SETTING: Department of Neurology, the First Affiliated Hospital of Sun Yat-sen University.PARTICIPANTS: Forty-three patients (26 males and 17 females) with hereditary ataxia from 36 families and 38 patients with sporadic hereditary ataxia (24 males and 14 females) were selected from the Outpatient Clinic of Neurogenetics, Department of Neurology, the First Affiliated Hospital of Sun Yat-sen University between September 1998 and September 2002. At the same time, 60 healthy individuals from the patients' families and 44randomly-selected healthy physical examinees were taken as controls. All the participants were enrolled voluntarily.METHODS: The fragments of trinucleotide repeats at different sites of mutant genes were amplified with polymerase chain reaction (PCR), and then the lengths were calculated with polyacrylamide gel electrophoresis and imaging analytical software. The repeated numbers of trinucleotide repeats in all the normal and abnormal amplified alleles were calculated respectively.MAIN OUTCOME MEASURES: Different genotype distribution in patients with hereditary ataxia.RESULTS: All the subjects were involved in the analysis of results. Of the detected patients with hereditary ataxia, the Machado-Joseph disease/spinocerebellar ataxia (SCA) 3 was the most common type of autosomal dominant SCA in South China, which was 42.0%, and was followed by SCA2 (7.4%), SCA1 (4.9%), SCA7 (3.7%), SCA6 (2.5%), SCA12 (1.2%).No patient was detected to have SCA8 SCA 10, SCA 17 dentatorubropallidoluysian atrophy (DRPLA) and Friedreich ataxia (FRDA).CONCLUSION: Autosomal dominant SCA3 is the most familiar genotype in South China. Clinical detection of hereditary ataxia should be done firstly aiming at the SCA3 genotype.
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Objective To study the molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 6 (SCA6).Methods 43 patients with autosomal dominant SCA from 36 families and 38 sporadic SCA patients were enrolled in the study. SCA6 (CAG)n dynamic mutations were detected by polymerase chain reaction (PCR). Abnormal allele fragments were sequenced and repeated numbers were calculated. The clinical data of two cases with SCA6 were analyzed.Results CAG repeat of normal SCA6 allele ranged from 10 to 13. CAG repeat of abnormal SCA6 allele expanded to 25 in one familial patient and 24 in one sporadic patient in our study. The basic characteristics of these SCA6 patients were slowly progressive cerebellar ataxia, nystagmus and dysarthria.Conclusion Diagnosis of SCA6 can be confirmed by detection of abnormal CAG repeat expansion. There is no obvious difference of clinical features between SCA6 and other SCA subtypes.
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Objective To explore the clinical features of paroxysmal autonomic nerve dysfunction after brain injury.Methods The clinical data of 22 patients with paroxysmal autonomic never dysfunction after brain injury were analysed retrospectively.Results The 22 patients were in vegetative state.The primary injury in 14 cases were severe traumatic brain injury,2 cases were cerebral or cerebellar hemorrhage and received evacution of hematoma,1 case was heroin toxic encephalopathy,2 cases were severe carbon monoxide poisoning,3 cases were hypoxic-ischemic encephalopathy after cardiopulmonary resuscitation(1 case with electrical injury,1case with coronary angiography and coronary stent implantation and 1 case with cardiac arrest due to anaesthetic accident).They had most of the symptoms such as paroxysmal agitation,hyperthemia,diaphoresis,tachypnea,tachycardia,hypertension,myodystonia and convulsion.No epileptic wave was found on EEG in the stage of attact.Latent period of physiological waves were prolonged and amplitudes were fallen down on brain auditory evoked potential(BAEP) and somatosensory evoked potential(SEP).The lesions in varied degrees were found in the cortex,subcortex,or brainstem by neuroimaging.The medicion such as dopamine agonist or antagonist,benzodiazepines and muscle relaxants were just focused on symptoms.There were 10 cases who got out of vegetative state eventually during 1 to 13 months after onset.Conclusions The clinical features of paroxysmal autonomic nerve dysfunction after brain injury are paroxysmal autonomic nerve dysfunction combining myodystony.The most of the severe patients are in vegetative state.The therapy is only focused on symptoms.
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0.9 mg/L in 6 patients.Kayser-Fleischer ring were found in 85.5 % of all the patients. The abnormal hepatic function in the liver type HLD was more common than that of in the brain type. The liver injury was detectable by B mote ultrasonic wave in different type HLD.MRI examination was taken in 79 patients, 65 of them had showed the symmetry abnormal signs in basal ganglia. Conclusions CP has independent diagnostic values when its content ≤0.08 g/L. Kayser-Fleischer ring is an excellent discriminatory test for the diagnosis of HLD patients with neurological or psychiatric symptom. 24 h urine copper is the best single screening test because it increases over 100 ?g/24 h in all patients who were taken the test. The B mote ultrasonic wave test for the liver and MRI for brain were helpful in detecting the damage in the liver and brain.