Evaluation of pancreatic function / 中国小儿急救医学

The evaluation of pancreatic function includes the evaluation of endocrine function and exocrine function.Insufficiency of pancreatic endocrine function can lead to pancreatic related diabetes.The pancreatic endocrine function is often evaluated by fasting blood glucose, two hours postprandial blood glucose, and glycosylated hemoglobin.Pancreatic exocrine dysfunction can lead to abdominal pain, abdominal distension, fatty diarrhea, malnutrition, weight loss and other manifestations.Pancreatic exocrine dysfunction is often atypical, and it is difficult to accurately evaluate pancreatic exocrine function, so the evaluation of pancreatic exocrine function is particularly important.There are indirect and direct methods to evaluate pancreatic exocrine function.At present, the most commonly used direct detection method is the detection of pancreatic function under intravenous anesthesia endoscope.Fecal elastase-1 is a commonly used indirect detection method at present.

Research progress of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy / 中华神经科杂志

Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy is one of the subtypes of immune-mediated necrotizing myopathy. Anti-HMGCR antibodies induce complement activation,subsequently resulting in myofiber necrosis,regeneration with autophagy abnormalities and mitochondrial changes. The age of onset is from children to adulthood. Some patients have a history of exposure to statins. Most patients are subacute onset. The patients with chronic progressive process, are more like muscular dystrophy. The main symptoms are proximal symmetrical weakness of limbs and usually accompanied with extra-muscle symptoms. The MRI showed muscle edema in all patients and fatty infiltrates in some patients. Myositis-specific auto-antibodies and muscle biopsies play key roles in diagnosis of HMGCR myopathy. Corticosteroids and immunosuppressants were first line therapy. Pediatric patients or patients with chronic course are usually refractory, and the efficacy of different combinations of immunosuppressants needs to be further investigated.

Clinical significance of circulating tumor cells testing in auxiliary diagnosis ofgastrointestinal cancer

Routine diagnostic tools and serum biomarkers of gastrointestinal (GI) cancer has limits in detecting early and micrometastasis,and circulating tumor cells (CTCs) had emerged as a promising metrics to complement this gap. The presentstudy is designed to explore technical feasibility of using CTCs as an auxiliary diagnostic tool in GI cancer. Over all 70inpatients with GI cancer and 30 healthy volunteers were recruited, and 10 mL of peripheral venous blood was collectedfrom all subjects. CTCs were detected by microfluidic blood rare cell analysis technique, and the sensitivity and specificityof CTCs in GI cancer diagnosis were derived from comparison with the pathological diagnosis results and tumor serummarker results. Compared with the healthy volunteers, the CTCs levels of the patients in gastrointestinal cancer group weresignificantly increased. Advanced stage subjects demonstrated higher level of CTCs, yet without statistical significance. Thesensitivity of CTCs to diagnose stage I to IV disease were 84.62%, 94.12%, 94.44%, and 100.00% respectively, yieldingcomprehensive sensitivity was 92.56% and specificity was 89.66%. Combined detection of CTCs and four tumor serummarkers was helpful in detecting positive rate, but without statistical signifiance compared with detecting CTCs alone. Ourstudy demonstrates the value of CTCs as an auxiliary diagnostic method for gastrointestinal cancer, and is expected to makeup for the deficiency of routine tissue biopsy, which can be used alone or in combination with conventional serum tumormarkers that can greatly promote the clinical diagnosis/prognosis of gastrointestinal cancer

Human immunodeficiency virus-associated nemaline myopathy: a case report and literature review / 中华神经科杂志

Objective:To summarize the clinical, pathological and muscle magnetic resonance imaging (MRI) features of human immunodeficiency virus (HIV)-associated nemaline myopathy (NM; HIV-NM).Methods:The present patient was a 23-year-old man with HIV infection who developed progressive proximal weakness and atrophy for more than 10 months. He was admitted to the Department of Neurology of Beijing Ditan Hospital in early June 2021. Electromyography showed myogenic findings. The serum creatine kinase was 202.4 U/L. CD 4+ count was 585×10 6/L. Serum monoclonal immunoglobulin (M protein) was negative. The patient underwent MRI examination of bilateral thigh muscles, biopsy of left biceps brachii and gene detection. The clinical, pathological and muscle MRI changes of HIV-NM were summarized based on the literature review. Results:MRI examination of bilateral thigh muscles showed edema changes. Muscle biopsy showed nemaline structures in some muscle fibers, accompanied by fiber atrophy and regeneration. No gene mutation related to clinical phenotype was found by second-generation sequencing. After intravenous immunoglobulin combined with prednisone, the patient′s weakness symptoms were significantly improved. A total of 17 cases of HIV-NM (including the present case) were identified in the literature, who were aged (33.7±9.1) years. Fifteen were males and two were females. All patients developed proximal limb weakness. Creatine kinase was normal or slightly elevated. Serum monoclonal protein was positive in 3 cases (3/7). Immunosuppressive therapy was effective.Conclusions:The main clinical characteristics of HIV-NM are progressive proximal limb weakness and muscle atrophy. The muscle pathology shows a large number of nemaline structures in atrophic muscle fibers. Muscle edema can be seen on muscle MRI. This is the first report of HIV-NM in China, which may be a special subtype of immune myopathy.

Characteristics of neuralgia in patients with Fabry disease in China / 中华神经科杂志

Objective:To summarize the characteristics of neuralgia in Fabry disease and explore the effects of genders and alpha-galactosidase A (GLA) gene mutation types on neuralgia.Methods:Questionnaires and Brief Pain Inventory evaluations were conducted on the recruited patients diagnosed as Fabry disease in Department of Neurology, Peking University First Hospital from January 2001 to April 2020. The characteristics of the neuralgia were summarized, and the portrait of neuralgia between male and female patients, and the patient groups carrying truncated mutations and non-truncated mutations of GLA gene was compared.Results:A total of 93 patients with Fabry disease were enrolled. The incidence of neuralgia was 91.4% (85/93),and the average onset age of pain was 9 years. The average remission age was 20 years with the remission incidence of 22.8% (18/79). Pain attack on extremities [96.5%(82/85)] was the most common form. The neuralgia relieving rate of male patients [17.5%(11/63)] was lower than that of females (7/16, χ2=5.01, P=0.025).Brief Pain Inventory scores showed that the degree of most severe pain attack within 24 hours of male patients (4.16±3.20) was higher than that of females (2.07±2.02, t=3.03, P=0.004),and the impact of pain on daily life [male 4 (7) vs female 0 (4), Z=-2.33, P=0.020], walking ability [male 5 (8) vs female 0 (2), Z=-2.87, P=0.004], daily work [male 5 (8) vs female 0 (2), Z=-3.10, P=0.002], relationship [male 2 (6) vs female 0 (3), Z=-2.67, P=0.008] and interests [male 4 (8) vs female 0 (3), Z=-2.81, P=0.005] of male patients was also higher than female patients. The truncated mutation group [1 (2)] only showed higher score on the current pain level than the non-truncated mutation group [0(0), Z=-2.89, P=0.003]. Conclusions:The neuralgia in Chinese patients with Fabry disease showed high incidence and early onset. Male patients presented more severe pain than female which led to a greater impact on life, while the type of GLA gene mutation had less impact on neuralgia.

SPTLC2 gene mutation leads to intermediate Charcot-Marries-Tooth disease: a family report / 中华神经科杂志

Objective:To report a SPTLC2 gene mutation in a family with a phenotype of Charcot-Marie-Tooth disease.Methods:To screen the family of patients with pathogenic mutations of SPTLC2 gene from the database of hereditary peripheral neuropathy in the Department of Neurology, Peking University First Hospital, and to collect their clinical data, peripheral nerve conduction examination, nerve ultrasound examination, pathological examination of the peroneal nerve and whole exome sequencing results of prohand.Results:One family was screened, the proband was a 16-year-old female with 4 years of sensory loss and anhidrosis of both lower limbs and 16 months of walking difficulty who admitted to Peking University First Hospital in January 2022. Physical examination showed sensory loss, dry skin and weakness in distal limbs. Her father had numbness and dry skin in the distal lower limbs from childhood,weakness and atrophy of his lower limbs in adulthood. He died at age of 52 years old. The nerve conduction study revealed no action potentials of the sensory and motor nerves of the lower limbs in the proband. The amplitude of the compound muscle action potential of the motor conduction of the bilateral ulnar nerve and median nerve decreased, and the nerve conduction velocity of the bilateral median nerve were 32 m/s and 24 m/s. Neurosonography showed thickening of peripheral nerves. Sural biopsy revealed severe loss of myelinated and unmyelinated nerve fibers with onion bulbs formation. SPTLC2 gene showed a known heterozygous p.G435V mutation. The lower limb weakness was improved after oral L-serine.Conclusions:SPTLC2 gene mutation can lead to an intermediate Charcot-Marie-Tooth disease phenotype. L-serine can improve the limb weakness.

Vacuoles in muscle fiber: pathological differences in various diseases / 中华神经科杂志

The vacuole in muscle fibers is a non-specific myopathological change. As a myopathological term, it occurs in several rare disorders. The vacuoles are mostly related to the autophagy of glycogen, lipids, abnormal proteins, and organelles, and a few are caused by glycogen or lipids deposition or sarcoplasmic reticulum luminal vacuolization. The vacuoles impair the structure of muscle fibers, being one of the myopathological features in various diseases. In this review, clinical features and myopathological changes of various diseases with vacuolar muscle fibers were introduced and the diagnostic value of intrafibral vacuoles was focused on. Knowing the underlying pathogenesis is required to understand these myopathological changes.

Clinical, myopathological and imaging features of pediatric anti-3-hydroxy-3-methylglutaryl- coenzyme A reductase myopathy / 中华神经科杂志

Objective:To determine the clinical, pathological and imaging phenotypes of pediatric patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy to explore its diagnostic strategies.Methods:The clinical features of 10 pediatric patients with anti-HMGCR myopathy in the Department of Neurology, Peking University First Hospital from July 2014 to July 2021 were collected. Muscle biopsies were performed in all patients, with histological, enzymatic histochemical and immunohistochemical staining.Results:The male to female ratio was 6∶4, the age of onset was 3-16 (8.3±3.7) years, 2 cases had subacute onset, and 8 cases experienced chronic progressive onset. All patients presented with neck and proximal muscular weakness of all limbs. Skin rash was observed in 2 cases. Serum creatine kinase was 998-27 981 U/L. The electromyography results were available from 6 cases, who experienced myogenic changes. The muscle magnetic resonance imaging was performed in 5 cases and revealed muscle edema predominantly in posterior compartment of thigh, with mild fatty infiltrate in 2 cases. An initial diagnosis was limb-girdle muscular dystrophy in 7 cases, but with subsequently negative genetic testing. Muscle biopsies revealed scattered necrotic fibers and regenerating fibers, complement deposition in sarcolemma basement-membrane areas of non-necrotic fibers and a few of lymphocyte infiltrate in all specimens. Moreover, a high frequency of major histocompatibility complex Ⅰ expression in muscle fibers was observed in 9 cases, proliferation of connective tissue of endomysium in 8 cases, muscle fiber hypertrophy in 4 cases and vacuoles in 2 cases.Conclusions:Pediatric anti-HMGCR myopathy is frequently misdiagnosed as muscular dystrophy. Systematic consideration of anti-HMGCR myopathy and testing for myositis specific antibody in children with genetically unconfirmed muscular dystrophy may help the differential diagnosis.

Risk Factors Predicting Upper Urinary Tract Damage in Patients With Myelodysplasia: Data Analysis of 637 Cases From A Single Center / 대한배뇨장애요실금학회지

Purpose@#To determine the risk factors predicting upper urinary tract (UUT) damage using a grading system for upper urinary tract dilation (UUTD) and a descriptive system for all urinary tract dysfunction (AUTD) in patients with myelodysplasia. @*Methods@#Six hundred thirty-seven patients with myelodysplasia were evaluated at our center from January 2008 to November 2019. Clinical data, ultrasonography, magnetic resonance urography, and video-urodynamics (VUDS) parameters were collected. Univariate and multivariate analyses were used to determine the risk factors predicting UUT damage. @*Results@#Three hundred eighty-three males and 254 females were included. The average course of lower urinary tract symptoms (LUTS) was 14.08±7.07 years (range, 3–31 years). The urodynamic diagnoses of all patients were as follows: detrusor overactivity, 26.8%; detrusor underactivity, 6.44%; and acontractile detrusor, 66.72%. UUT damage was determined in 66.56% of the patients. Of the patients, 28.73 % had vesicoureteral reflux (VUR) during filling (bilateral, n=50; unilateral, n=133) on fluoroscopy during VUDS testing. Two hundred thirty-four patients had UUTD (bilateral, n=203; unilateral, n=31). The occurrence of hydronephrosis based on ultrasonography was closely related to ipsilateral VUR (P<0.05). Absent of bladder sensation, long-term course of LUTS, decreased maximum cystometric capacity (MCC) and bladder compliance (BC), and increased postvoid residual urine (PVR) were shown to be independent risk factors in logistic regression analysis. @*Conclusions@#This retrospective study using UUTD and AUTD systems indicated that patients with myelodysplasia have a high incidence of UUT damage. Absence of bladder sensation, long-term course of LUTS, decreased MCC and BC, and increased PVR were independent risk factors predicting UUT damage.

Significance of molecular diagnostic technology in the diagnosis and treatment of inflammatory bowel disease in children / 中华实用儿科临床杂志

With the development of biological technology, molecular diagnosis has been increasingly applied in clinical practice and treatment.Inflammatory bowel disease (IBD) in children is a chronic intestinal inflammation caused by infection, immunity, environment and other factors in a specific genetic background.Children with IBD, especially early-onset and very early-onset IBD, can be considered a monogenic disease.Early identification of such children in clinical work and timely improvement of gene detection can identify the types of gene defects and reveal the inflammatory signal transduction pathways, providing a theoretical basis for the selection of treatment options.Moreover, drug-related pharmacogenetics in the treatment of IBD directly affects the organism′s response rate to drugs, thereby affecting the clinical remission and intestinal mucosal repair.Therefore, the understanding of the characteristics of drug immunogenicity of the Asian population, which can reduce the unnecessary waste of medical resources, the adverse drug reactions in children during the induction and maintenance of remission and complications and recurrence rate, is of great importance.

Progress in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 中华神经科杂志

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3 gene mutations. At present, the pathogenesis and the effective treatments of CADASIL is unclear. This review summarizes the existing pathogenesis of CADASIL, including the dysfunction of cerebral small arteries, the abnormalities of vascular smooth muscle cells, and the possible destruction of blood-brain barrier.

Neuronal intranuclear inclusion disease: the clinical features and pathological findings of peripheral tissue biopsy in nine cases with genetic diagnosis / 中华神经科杂志

Objective:To summarize the clinical features and pathological changes of peripheral tissues from patients with neuronal intranuclear inclusion disease (NIID) diagnosed by genetic tests.Methods:Repeat-primed polymerase chain reaction was used to confirm the GGC repeated expansion in the 5′ untranslated region of the NOTCH2NLC gene in patients with suspected NIID who had visited the Department of Neurology of Peking University First Hospital from January 2018 to February 2020. The clinical data and pathological changes of peripheral tissues from patients with genetically diagnosed NIID were collected retrospectively and analysed. Immunostaining with anti-p62 and anti-ubiquitin antibody was performed on peripheral biopsy specimens.Results:Totally nine patients with NIID who had GGC repeated expansion in the NOTCH2NLC gene were found. Five patients were familial (from three faimilies), and four patients were sporadic. The age of onset was 36-61(51.33±7.12) years. The most common symptoms in this NIID group were episodic emotion and personality change (8/9), paroxysmal disturbance of consciousness (6/9) and intermitant head discomfort (6/9). Other symptoms included cognitive dysfunction, limb weakness, limb sensory disturbance, bladder dysfunction, ataxia, seizures and psychiatric symptoms. Brain magnetic resonance imaging showed high signals along the corticomedullary junction on diffusion-weighted image in eight out of nine patients. Skin biopsied samples from nine patients demonstrated the presence of eosinophilic intranuclear inclusions (IIs), appearing in the nucleus of fibroblasts, fat cells and ductal epithelial cells of sweat glands on hematoxylin-eosin staining. IIs were positive on anti-p62 and anti-ubiquitin immunostaining. Electron microscopy indicated the IIs were composed of a pile of filament materials without membrane. Muscle biopsies from two patients showed no obvious neurogenic or myogenic pathologic changes, except in one patient several rimmed vacuoles fibers were found. In one patient sural nerve biopsy showed severe demyelinating pathological changes. No IIs were found in the muscles and peripheral nerve tissue either by histological examination or by immunohistochemical staining with anti-p62 or anti-ubiquitin, while IIs were found by immunofluorescence staining with both anti-p62 and anti-ubiquitin in three patient′s tissue. Conclusions:The phenotype of this NIID patient group is adult-onset NIID, with episodic encephalopathy as the main clinical manifestation. Skin biopsy has high pathological diagnostic value for NIID. The immunofluorescence staining with anti-p62 and anti-ubiquitin is easier to detect the presence of IIs than histological staining and immumohistochemical staining.

The Video-Urodynamic and Electrophysiological Characteristics in Patients With Traumatic Spinal Cord Injury / 대한배뇨장애요실금학회지

Purpose@#To investigate the video-urodynamic and pelvic floor electrophysiological characteristics in patients with traumatic spinal cord injury (SCI). @*Methods@#This retrospective reviewed the clinical records, urodynamic and pelvic floor electrophysiological data of 647 patients with traumatic SCI and out of spinal shock. Patients were classified based on American Spinal Injury Association (ASIA) Impairment Scale and urodynamic findings. @*Results@#Of the 647 patients, detrusor overactivity (DO) with or without detrusor sphincter dyssynergia (DSD) was found in 79.5%, 61%, 35.2%, 35%, and 19.2% of patients with cervical, thoracic (T1–9), thoracic (T10–12), lumbar, and conical cauda injury, respectively. Other patients manifested detrusor areflexia (DA). Patients with DO and/or DSD had a longer duration of SCI at each injury level than patients with DA. In suprasacral injury patients with DA, 63.0% (58 of 92) had a normal bulbocavernosus reflex (BCR) response. Compared with patients without bladder sensation (BS), bladder capacity during urine leakage was far higher in those with BS. The manifestation of BCR and somatosensory-evoked potential (SEP) was associated with the level of injury. @*Conclusions@#This study showed a significant correlation between the level of SCI and video-urodynamic findings, but clinical examination cannot by predict bladder function; urodynamic testing is also necessary. In addition, the role of BCR and SEP for guiding bladder management is limited. Moreover, BS is important for urinary control in patients with traumatic SCI.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 中华神经科杂志

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3 gene mutation. The main manifestations of the disease are migraine,cerebral ischemic stroke, progressive cognitive impairment, psychological abnormality which developed at different stage of disease. Multiple cerebral lacunar infarctions, white matter T 2 hyperintensities and cerebral microbleeds can be seen on brain magnetic resonance imaging. The definite diagnosis evidence of CADASIL is the presence of granularosmiophilic material on the surface of arteriolar smooth muscle cells and (or) the identification of pathogenic variants of NOTCH3 gene. With the wide application of second-generation sequencing, more and more patients with CADASIL have been diagnosed. This article will give a summary on the pathogenesis mechanism, clinical manifestations, diagnostic workup, and management of CADASIL.

Frequency-Dependent Effects on Bladder Reflex by Saphenous Nerve Stimulation and a Possible Action Mechanism of Tibial Nerve Stimulation in Cats / 대한배뇨장애요실금학회지

Purpose@#The present study determined the effects of saphenous nerve stimulation (SNS) at different stimulation frequencies on bladder reflex and explored a possible action mechanism of tibial nerve stimulation (TNS) on bladder activity in cats. @*Methods@#Two bipolar nerve cuff electrodes were implanted on the saphenous nerve and the contralateral tibial nerve in 13 cats, respectively. Multiple cystometrograms were obtained to determine the effects of single SNS at different frequencies and that of combined SNS and TNS on the micturition reflex by infusing normal saline. @*Results@#SNS at 1 Hz significantly reduced the bladder capacity (BC) to 59.8%±7.7% and 59.3%±5.8% of the control level at the intensity threshold (T) and 2T, respectively (P0.05), while combined stimulation at 1T significantly increased the BC to 122.7%±1.9% of the control level and induced an inhibitory effect which was similar to that TNS at 2T. @*Conclusions@#The current study revealed that SNS reduced and increased BC depending on different stimulation frequencies. The combined SNS and TNS maximized the clinical efficacy at a low intensity. Also, SNS may be a potential therapeutic mechanism of TNS.

Frequency-Dependent Effects on Bladder Reflex by Saphenous Nerve Stimulation and a Possible Action Mechanism of Tibial Nerve Stimulation in Cats / 대한배뇨장애요실금학회지

Purpose@#The present study determined the effects of saphenous nerve stimulation (SNS) at different stimulation frequencies on bladder reflex and explored a possible action mechanism of tibial nerve stimulation (TNS) on bladder activity in cats. @*Methods@#Two bipolar nerve cuff electrodes were implanted on the saphenous nerve and the contralateral tibial nerve in 13 cats, respectively. Multiple cystometrograms were obtained to determine the effects of single SNS at different frequencies and that of combined SNS and TNS on the micturition reflex by infusing normal saline. @*Results@#SNS at 1 Hz significantly reduced the bladder capacity (BC) to 59.8%±7.7% and 59.3%±5.8% of the control level at the intensity threshold (T) and 2T, respectively (P0.05), while combined stimulation at 1T significantly increased the BC to 122.7%±1.9% of the control level and induced an inhibitory effect which was similar to that TNS at 2T. @*Conclusions@#The current study revealed that SNS reduced and increased BC depending on different stimulation frequencies. The combined SNS and TNS maximized the clinical efficacy at a low intensity. Also, SNS may be a potential therapeutic mechanism of TNS.

Neuronal intranuclear inclusion disease revisiting / 中华神经科杂志

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Skin biopsy, as a screening method, has greatly improved the diagnostic efficiency of the disease. Recently, researchers have successfully identified that the GGC repeat expansion in the 5' region of the NOTCH2NLC gene is the causative mutation of NIID. In addition to the typical NIID phenotype presenting with episodic/progressive encephalopathy, peripheral neuropathy, and autonomic disturbance, the gene mutation had also been reported to be associated with a small portion of Alzheimer 's disease, Parkinsonism, multiple system atrophy and essential tremor patients. So, the name of NOTCH2NLC-related repeat expansion disorder was proposed to include these variable phenotypes. We revisited the discovery milestones, clinical phenotype, laboratory examinations, as well as new insight into diagnosis and treatment of NIID.

An adult case with cerebellar lesion due to methylmalonic academia combined with hyperhomocysteinemia / 中华神经科杂志

An adult man of methylmalonic acidemia combined with hyperhomocysteinemia is reported. He presented with progressive walking instability with mental and behavioral alterations when aged 24 years. Physical examination showed significant cerebellar ataxia and pyramidal signs. Brain magnetic resonance imaging revealed symmetric lesions of bilateral cerebellum. His plasma total homocysteine and urine methylmalonic acid were significantly elevated. Compound heterozygous mutations, c.482G>A and c.217C>T, were found in his MMACHC gene, confirming the diagnosis of cblC deficiency. Improved clinical manifestations and decreased plasma total homocysteine were observed one month after treatment.

Effects of Acute Sacral Neuromodulation at Different Pulse Widths on Bladder Overactivity in Pigs / 대한배뇨장애요실금학회지

PURPOSE: Sacral nerve stimulation has been used to treat overactive bladder. This study evaluated the effects of stimulation using different pulse widths on the inhibition of bladder overactivity by sacral nerve stimulation (SNM) in pigs. METHODS: Implant-driven stimulators were used to stimulate the S3 spinal nerve in 7 pigs. Cystometry was performed by infusing normal saline (NS) or acetic acid (AA). SNM at pulse widths of 64 μsec to 624 μsec was conducted at the intensity threshold at which observable perianal and/or tail movement was induced. Multiple cystometrograms were performed to determine the effects of different pulse widths on the micturition reflex. RESULTS: AA-induced bladder overactivity reduced the bladder capacity to 46.9%±7.1% of the NS control level (P0.05). The actual intensity threshold varied from 0.7 to 8 V. The mean intensity threshold (T visual) for pulse widths of 64 μs, 204 μs, and 624 μs were 5.64±0.76 V, 3.11±0.48 V, and 2.52±0.49 V. T visual for pulse widths of 64 μsec was larger than the other two T visual for pulse widths of 204 μsec and 624 μsec (P0.05). CONCLUSIONS: This study indicated that different pulse widths could play a role in inhibiting bladder overactivity. It is not yet certain which pulse widths increased bladder capacity compared with AA levels, to minimize energy consumption and maintain patient comfort during stimulation, 204 μsec may be an appropriate pulse width for SNM.

The 7.0 Tesla magnetic resonance imaging change and its relationship with cognitive impairment in CADASIL patients / 中华神经科杂志

Objective@#To explore the relationship between the cognitive impairment and cerebral lesions using 7.0 Tesla magnetic resonance imaging (MRI) in CADASIL patients. @*Methods@#Thirty five CADASIL patients confirmed by serum NOTCH3 gene detection in Peking University First Hospital from June 2015 to November 2018 were enrolled, including 19 males and 16 females, of which the age of onset was (39.28±8.31) years, the age of admission was (44.61±8.42) years, and the course of disease was (5.29±3.65) years. 7.0 Tesla MRI was performed in all the patients. The numbers of lacunar infarcts and microbleeds were counted and the white matter changes were evaluated with age-related white matter rating scale (ARWMrs). Neuropsychological tests were used to evaluate the global cognition, memory, attention, executive function, visuo-spatial function and language function separately. The z score was calculated to evaluate the impairment extent in different scales. The correlation analysis was performed between image changes and neuropsychological tests. Thirty nine normal controls including 20 males and 19 females with age of (42.54±8.92) years were also enrolled, and the same neuropsychological tests were performed in these subjects. @*Results@#The numbers of microbleeds and lacunar infarcts were 13.71±10.29 and 5.89 (8.74). The ARWMrs score was 11.26±5.31. There were 21 patients (60%) presented with cognitive impairment. In comparison with the controls, the patients presented with global cognitive impairment (MMSE score 26.87±3.95 vs 29.08±0.95), including executive (finishing time of Stroops-c: 80.00 (103.75) s vs 67.79 (16.00) s, correct number of Stroops-c: 48.00 (44.26) vs 50.00 (2.00), time of trail making A test: 55.5 (81.5) s vs 39.0 (5.0) s, time of trail making B test: 171.0 (159.5) s vs 103.0 (54.0) s, false number of trail making B test: 0(2) vs 0(0)), memory (number of register memory: 16.13±5.41 vs 21.1±15.21, number of long term recall: 4.78±2.83 vs 7.41±2.24, number of cue recall memory: 4(6) vs 8(4), number of recognition memory: 10.00 (2.25) vs 11.00 (2.00)), attention (number of digital span: 4.42±1.46 vs 7.89±1.65, correct number of symbol digitalis modality test: 38.47±17.29 vs 51.41±13.00), visuo-spatial (Rey-osterrich: 34 (5) vs 36 (2)) and language function (number of semantic fluency: 14.70±5.54 vs 17.46±5.63) (P<0.05). The z score demonstrated impaired executive function, followed by visuo-spatial dysfunction. The number of lacunar infarcts and microbleeds significantly correlated with short term recall memory (r=-0.404, -0.393), long term recall memory (r=-0.375, -0.395), cue memory (r=-0.395, -0.437), Stroops-c time (r=0.412, 0.503), trails making A test time (r=0.400, 0.434)(P<0.05). The number of lacunar infarcts significantly correlated with symbol digitalis modality test (r=-0.475) (P<0.05). The number of microbleeds significantly correlated with digital span test (r=-0.390), Boston naming test (r=-0.382) and semantic fluency (r=-0.449) (P<0.05). ARWMrs score significantly correlated with MMSE score (r=-0.357), rigister memory (r=-0.342), trails making A finishing time (r=0.425), trails making B finishing time (r=0.463) and correct numbers of trails making B (r=0.392) (P<0.05). @*Conclusions@#CADASIL presented with global cognitive impairment, especially executive function and visuo-spatial function. The white matter changes, lacunar infarcts and microbleeds affected different cognitive function.