Background/Objectives: Global ageing is associated with an increase in the frequency of peripheral arterial disease (PAD), which is often complex to manage postoperatively. The aim of this study was to describe postop...Background/Objectives: Global ageing is associated with an increase in the frequency of peripheral arterial disease (PAD), which is often complex to manage postoperatively. The aim of this study was to describe postoperative complications of Lower limb arteriopathy in geriatric units. Materials and Methods: This was a retrospective, descriptive study from July 2019 to June 2022 of patients aged at least 65 years hospitalized in the geriatric unit of the FANN hospital for postoperative management of a Lower limb arteriopathy. Sociodemographic, clinical and evolutionary characteristics were collected and analyzed using Epi info version 7.2.6 software. Results: Forty patients met the criteria, representing 7.69% of hospital admissions. The average age was 77.5 years, with women in majority (75%). The mean time to geriatric admission after surgery was 9 ± 3 days. Poly pathologies (≥3 comorbidities) were present in 55% of patients. Cardiovascular risk factors were dominated by high blood pressure (85%), followed by mellitus diabetes (52.5%) and dyslipidemia (12.5%). Other associated comorbidities were dominated by heart disease (40%), followed by ischemic stroke (27.5%) and major cognitive impairment (27.5%). Excessive chronic arterial disease of the limbs was the predominant vascular diagnosis (80%) and amputation was the most common surgical procedure (62.5%), especially of the thigh (42.4%). Symptoms included refusal to eat (70%) and mental confusion (70%). The geriatric syndromes were mainly acute loss of functional independence (97.5%) and malnutrition (77.5%). The average number of acute diagnoses on admission was 4 ± 1, represented mainly by infectious diseases (31.5%), dominated by superinfection of the amputation stump (55%) and pulmonary infection (25%). Mortality rate was 22.5%. Conclusion: Post-surgical complications are frequent in the geriatric population, with a high mortality rate. Prior geriatric assessment would optimize postoperative results.展开更多
The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoenceph...The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.展开更多
OBJECTIVE: To explore the curative effects of warming needle moxibustion combined with manipulation massage on cervical spondylotic vertebral arteriopathy and its influence on the cerebral blood flow and cervical vert...OBJECTIVE: To explore the curative effects of warming needle moxibustion combined with manipulation massage on cervical spondylotic vertebral arteriopathy and its influence on the cerebral blood flow and cervical vertebra function. METHODS: A total of 84 patients with cervical spondylotic vertebral arteriopathy admitted to our hospital from February 2016 to June 2017 were selected, and all patients were divided into an observation group (n=42) and a control group (n=42) according to the random number table method. The patients in the control group were given conventional western treatment, and the patients in the observation group were treated with warming needle moxibustion combined with manipulation massage on the basis of the control group. After 4 weeks of treatment, the changes of main clinical symptoms (vertigo, headache, neck and shoulder pain, tinnitus), cervical function (clinical symptoms, clinical examination, daily life action) and cerebral blood flow parameters (average blood flow velocity of left vertebral artery, right vertebral artery and basilar artery) of the 2 groups were observed, and the clinical efficacy of the 2 groups were statistically analyzed. RESULTS: The scores of vertigo, headache, neck and shoulder pain and tinnitus in the 2 groups were all significantly lower than before treatment (P < 0.05), and the clinical symptom scores in the observation group were significantly lower after treatment (P < 0.05);After treatment, the scores of clinical symptoms, clinical examination and daily life action in the 2 groups were significantly higher than those before treatment (P < 0.05), and the increase of cervical vertebral function score in the observation group was better than that in the control group (P < 0.05);The mean blood flow velocity of the left vertebral artery, right vertebral artery and the basilar artery in the 2 groups after treatment were significantly higher than before treatment (P < 0.05), and the increase of the above cerebral blood flow parameters in the observation group were higher than the control group (P < 0.05). The total effective rate was 92.9% in the observation group and 76.2% in the control group after treatment, and the difference between the 2 groups was statistically significant (P < 0.05). CONCLUSION: Warming needle moxibustion combined with manipulation massage can quickly relieve the clinical symptoms of patients with cervical spondylotic vertebral arteriopathy, improve the cervical function and cerebral blood flow parameters, increase the vertebrobasilar artery blood flow, and promote the recovery of the disease.展开更多
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditar5 small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imag...Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditar5 small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography (EDI-OCT) to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging (MPRI) findings. Methods: Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First ttospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microblecds were evaluated. All patients and controls underwent EDI-OCT to measure subtbveal choroidal thickness (SFCT), inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner (AVRin) and outer diameters (AVRout). The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman's correlation was used to investigmc the correlation between retinal vessel changes and MRI lesions. Results: In CADASI L patients, mean SFCT (268.37 ± 46.50 μm) and mean arterial inner diameter (93.46 ± 9.70 gin) were signilicantly lower than that in controls (P 〈 0.00 ), P = 0.048, respectively). Mean arterial outer diameter ( 131.74 ± 10.87 μm), venous inner ( 128.99 ± 13.62 μm) and outer diameter ( 164.82 ±14.77 μm), and mean arterial ( 19.13 ±1.85 μm) and venous ( 17.91 ±2.76 μm) wall thickness were significantly higher than that in controls (P = 0.023, P 0.004, P 〈 0.001, P 〈 0.001, respectively). Arterial inner diameter (r= - 0.39, P 0.044)] AVRin (r -0.65, P 〈 0.001), and AVR,, (r =0.56, P - 0.002) showed a negative correlation with the number of small infarcts. Venous inner diameter (rs=0.46, P= 0.016) showed a positive correlation with the number of small infarcts. Venous inner diameter (r 0.59, P = 0.002), outer diameter (rs=0.47, P= 0.017), showed a positive correlation with the number of cerebral microbleeds (CM Bs). AVRin (r =0.52, P = 0.007) and AVRout (r = -0.40, P =0.048) showed a negative correlation with the number of CMBs. Conclusions: Measurement of retinal vessels using EDI-OCT correlates moderately well with MRI parameters. EDI-OCT might bc a useful evaluation tool for CADASIL patients.展开更多
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), is the most common cause of inherited cerebral small vessel disease, inherited stroke and inherited vascular dement...Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), is the most common cause of inherited cerebral small vessel disease, inherited stroke and inherited vascular dementia. It is not infrequent for CADASIL to be mistaken and mistreated for multiple sclerosis (MS). A much less frequent but existing scenario is the co-occurrence of CADASIL and MS (or MS-like inflammatory condition). Such patients may present with spinal cord lesions, brain or spinal cord enhancing lesions, positive oligoclonal bands and high IgG index in the cerebrospinal fluid and good response to corticosteroids or immunomodulating treatments. CADASIL through various mechanisms may trigger or modulate autoimmune reactions, and either be complicated by an inflammatory component or cause an MS-like disorder.展开更多
Objective To investigate the clinical features,imaging features,pathological features and gene diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL).Methods ...Objective To investigate the clinical features,imaging features,pathological features and gene diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL).Methods Clinical manifestations,signs and imaging characteristics of a female patient hospitalized in the First Affiliated Hospital of Zhengzhou University for more than 10 days due to headache were analyzed,and skin biopsy and HTRA1 and Notch3 gene detection were performed.展开更多
Background: Diabetic foot is a frequent complication of diabetes, of multifactorial origin, associating nervous and/or circulatory disorders to which infection is often added. Its care is multidisciplinary and require...Background: Diabetic foot is a frequent complication of diabetes, of multifactorial origin, associating nervous and/or circulatory disorders to which infection is often added. Its care is multidisciplinary and requires coordination between different actors. In this context, arterial doppler ultrasound is essential in the diagnosis of diabetic arteriopathy and participates in therapeutic decision-making. The aim of this study was to describe the abnormalities found on Doppler ultrasonography of patients hospitalized for the diabetic foot in the Ivory Coast. Methods: We conducted a retrospective descriptive study including 235 patients hospitalized for the diabetic foot in the Endocrinology department of the Yopougon University Hospital from February 2002 to December 2015. All records of patients who performed arterial Doppler ultrasound of the lower limbs were selected and the various abnormalities were described. Results: The sex ratio (M/F) was 1.1 (124 men to 111 women). The predominant age group was 61.2 years. Type 2 diabetes was found in 97.4% of cases. The average evolution of diabetes was 8.9 years with extremes of 1 and 32 years. Wet gangrene was the most common type of lesion found in 75.8% of cases. On ultrasonography, 98.7% of the patients had an arterial abnormality of the lower limbs. It was bilateral in 62.2% of cases, dominated by atheromatous overloads and mediacalcosis in 46.4% and 43.8% of cases, respectively. Arterial stenosis was lesions hemodynamically found in 76.3% of cases and arterial occlusions in 32.7% of cases. The amputation rate was 72.7%. Conclusion: This study shows the high frequency of arterial abnormalities in patients with the diabetic foot with a predominantly distal involvement. Arterial Doppler ultrasound of the lower limbs remains an essential tool in the care of diabetic foot. This easily accessible, non-invasive examination has a key role in therapeutic decision-making.展开更多
Mitochondrial disorders(MIDs)are usually multisystem disorders(mitochondrial multiorgan disorder syndrome)either on from onset or starting at a point during the disease course.Most frequently affected tissues are thos...Mitochondrial disorders(MIDs)are usually multisystem disorders(mitochondrial multiorgan disorder syndrome)either on from onset or starting at a point during the disease course.Most frequently affected tissues are those with a high oxygen demand such as the central nervous system,the muscle,endocrine glands,or the myocardium.Recently,it has been shown that rarely alsothe arteries may be affected(mitochondrial arteriopathy).This review focuses on the type,diagnosis,and treat-ment of mitochondrial vasculopathy in MID patients.A literature search using appropriate search terms was carried out.Mitochondrial vasculopathy manifests as either microangiopathy or macroangiopathy.Clinical manifestations of mitochondrial microangiopathy include leukoencephalopathy,migraine-like headache,stroke-like episodes,or peripheral retinopathy.Mitochondrial macroangiopathy manifests as atherosclerosis,ectasia of arteries,aneurysm formation,dissection,or spontan-eous rupture of arteries.The diagnosis relies on the documentation and confirmation of the mitochondrial metabolic defect or the genetic cause after exclusion of non-MID causes.Treatment is not at variance compared to treatment of vasculopathy due to non-MID causes.Mitochondrial vasculopathy exists and manifests as micro-or macroangiopathy.Diagnosing mitochondrial vasculopathy is crucial since appropriate treatment may prevent from severe complications.展开更多
This study is a report on one 59-year-old male patient with hereditary multi-infarct dementia who came from a family with a positive family history of this disease. The patient primarily presented with dizziness accom...This study is a report on one 59-year-old male patient with hereditary multi-infarct dementia who came from a family with a positive family history of this disease. The patient primarily presented with dizziness accompanied by vertigo and a positive Romberg's sign. Skull magnetic resonance images showed lacunar infarction in bilateral temporal lobes, bilateral basal ganglias, periventricular white matter and semioval center, and ischemic focus accompanied by white matter degeneration, exhibiting senile morphological brain changes. No abnormalities were observed by skull magnetic resonance angiography. Gene detection further confirmed that there was Arg607Cys heterozygous mutation in exon 11 of the Notch3gene. No other mutations in exons were detected.展开更多
Background:The etiology of pulmonary arterial hypertension associated with congenital heart disease(PAHCHD)is complicated and the phenotype is heterogeneous.Genetic defects of NOTCH3 were associated withcerebral disea...Background:The etiology of pulmonary arterial hypertension associated with congenital heart disease(PAHCHD)is complicated and the phenotype is heterogeneous.Genetic defects of NOTCH3 were associated withcerebral disease and pulmonary hypertension.However,the relationship between NOTCH3 mutations and theclinical phenotype has not been reported in CHD-PAH.Methods:We eventually enrolled 142 PAH-CHD patientsfrom Fuwai Hospital.Whole exome sequencing(WES)was performed to screen the rare deleterious variants ofNOTCH3 gene.Results:This PAH-CHD cohort included 43(30.3%)men and 99(69.7%)women with the meanage 29.8±10.9 years old.The pathogenic or likely pathogenic mutations of NOTCH3 were identified in five cases.Patients 2,5,8 and 11 carried the same NOTCH3 mutation c.1630C>T(pArg544Cys),which is the hot-spotmutation for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL).Patient 3 carried the NOTCH3 mutation p.Arg75Gln that has also been reported to be associatedwith the CADASIL.Patients 2,5,8,11 took the examination of the cerebral magnetic resonance imaging(MRI)and confirmed the phenotype of CADASIL.Conclusions:We first reported the NOTCH3 rare mutationsand CADASIL phenotypes in CHD-PAH patients.The NOTCH3 rare variants were with a relatively high positiverate and CADASIL phenotypes were likely enriched in PAH-CHD patients.The preoperative neurological examinationmight be recommended for PAH-CHD patients to determine the surgical contraindications and reduceintraoperative neurological complications.展开更多
Objective:To observe the effect of catgut-embedding therapy at five neck points in the treatment of cervical spondylotic arteriopathy(CSA)and analyze its effects on the hemodynamics of patients with CSA.Methods:Using ...Objective:To observe the effect of catgut-embedding therapy at five neck points in the treatment of cervical spondylotic arteriopathy(CSA)and analyze its effects on the hemodynamics of patients with CSA.Methods:Using the computer randomization method,72 patients with CSA were divided into a catgutembedding therapy group(n=36,none dropped out)and a western medication group(n=36,none dropped out).In the catgut-embedding therapy group,the therapy was applied to five neck points,i.e.bilateral Jǐngjiājǐ(颈夹脊)at C5,bilateral Jǐngjiājǐ(颈夹脊)at C6,and Dàzhuī(大椎GV14)once a week.One3-week treatment session was required.In the western medication group,flunarizine hydrochloride 5 mg capsules were administered orally once daily for 3 weeks.Efficacy was assessed before and after 3 weeks treatment using a functional evaluation scale for cervical spondylotic arteriopathy(FS-CSA).Changes in vertebral-basilar arterial hemodynamics,serum nitric oxide(NO)level,and plasma endothelin(ET)level were detected.Results:Efficacy was assessed when the treatment session was completed.The total efficacy rate was significantly higher in the catgut-embedding therapy group(86.1%)than in the western medication group(61.1%;P<0.01).The after treatment FS-CSA score was reduced compared with baseline score in both groups(P<0.05),and the reduction in the catgut-embedding therapy group was superior to that in the Western medication group(P<0.05).Compared with baseline,the flow velocity and pulsatility index of the bilateral vertebral and basilar arteries increased at each period in both groups(P<0.05)except for the left systolic velocity of the vertebral artery after treatment.The increase in the catgut-embedding therapy group was greater than that in the western medication group(P<0.05).After treatment,the serum NO concentration was increased and the plasma ET concentration was reduced compared to baseline in both groups(P<0.05),while the improvements in the catgut-embedding therapy group were superior to those in the western medication group(P<0.05).Conclusion:The clinical efficacy in the catgut-embedding therapy group was superior to that in the western medication group.Catgut-embedding therapy at five neck points may effectively improve psychological and functional conditions,promote vertebral basilar arterial supply,and relieve clinical symptoms in patients with CSA.展开更多
文摘Background/Objectives: Global ageing is associated with an increase in the frequency of peripheral arterial disease (PAD), which is often complex to manage postoperatively. The aim of this study was to describe postoperative complications of Lower limb arteriopathy in geriatric units. Materials and Methods: This was a retrospective, descriptive study from July 2019 to June 2022 of patients aged at least 65 years hospitalized in the geriatric unit of the FANN hospital for postoperative management of a Lower limb arteriopathy. Sociodemographic, clinical and evolutionary characteristics were collected and analyzed using Epi info version 7.2.6 software. Results: Forty patients met the criteria, representing 7.69% of hospital admissions. The average age was 77.5 years, with women in majority (75%). The mean time to geriatric admission after surgery was 9 ± 3 days. Poly pathologies (≥3 comorbidities) were present in 55% of patients. Cardiovascular risk factors were dominated by high blood pressure (85%), followed by mellitus diabetes (52.5%) and dyslipidemia (12.5%). Other associated comorbidities were dominated by heart disease (40%), followed by ischemic stroke (27.5%) and major cognitive impairment (27.5%). Excessive chronic arterial disease of the limbs was the predominant vascular diagnosis (80%) and amputation was the most common surgical procedure (62.5%), especially of the thigh (42.4%). Symptoms included refusal to eat (70%) and mental confusion (70%). The geriatric syndromes were mainly acute loss of functional independence (97.5%) and malnutrition (77.5%). The average number of acute diagnoses on admission was 4 ± 1, represented mainly by infectious diseases (31.5%), dominated by superinfection of the amputation stump (55%) and pulmonary infection (25%). Mortality rate was 22.5%. Conclusion: Post-surgical complications are frequent in the geriatric population, with a high mortality rate. Prior geriatric assessment would optimize postoperative results.
基金supported by the Beijing Municipal Education Commission Science and Technology Development Project, No. KM200910025015
文摘The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.
文摘OBJECTIVE: To explore the curative effects of warming needle moxibustion combined with manipulation massage on cervical spondylotic vertebral arteriopathy and its influence on the cerebral blood flow and cervical vertebra function. METHODS: A total of 84 patients with cervical spondylotic vertebral arteriopathy admitted to our hospital from February 2016 to June 2017 were selected, and all patients were divided into an observation group (n=42) and a control group (n=42) according to the random number table method. The patients in the control group were given conventional western treatment, and the patients in the observation group were treated with warming needle moxibustion combined with manipulation massage on the basis of the control group. After 4 weeks of treatment, the changes of main clinical symptoms (vertigo, headache, neck and shoulder pain, tinnitus), cervical function (clinical symptoms, clinical examination, daily life action) and cerebral blood flow parameters (average blood flow velocity of left vertebral artery, right vertebral artery and basilar artery) of the 2 groups were observed, and the clinical efficacy of the 2 groups were statistically analyzed. RESULTS: The scores of vertigo, headache, neck and shoulder pain and tinnitus in the 2 groups were all significantly lower than before treatment (P < 0.05), and the clinical symptom scores in the observation group were significantly lower after treatment (P < 0.05);After treatment, the scores of clinical symptoms, clinical examination and daily life action in the 2 groups were significantly higher than those before treatment (P < 0.05), and the increase of cervical vertebral function score in the observation group was better than that in the control group (P < 0.05);The mean blood flow velocity of the left vertebral artery, right vertebral artery and the basilar artery in the 2 groups after treatment were significantly higher than before treatment (P < 0.05), and the increase of the above cerebral blood flow parameters in the observation group were higher than the control group (P < 0.05). The total effective rate was 92.9% in the observation group and 76.2% in the control group after treatment, and the difference between the 2 groups was statistically significant (P < 0.05). CONCLUSION: Warming needle moxibustion combined with manipulation massage can quickly relieve the clinical symptoms of patients with cervical spondylotic vertebral arteriopathy, improve the cervical function and cerebral blood flow parameters, increase the vertebrobasilar artery blood flow, and promote the recovery of the disease.
基金This study was supported by grants from the National Key Research and Development Program of China (No. 2016YFC1300600), National Natural Science Foundation of China (No. 81471185), and National Science and Technology Major Project (No. 2011 ZX09307-001-07).
文摘Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditar5 small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography (EDI-OCT) to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging (MPRI) findings. Methods: Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First ttospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microblecds were evaluated. All patients and controls underwent EDI-OCT to measure subtbveal choroidal thickness (SFCT), inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner (AVRin) and outer diameters (AVRout). The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman's correlation was used to investigmc the correlation between retinal vessel changes and MRI lesions. Results: In CADASI L patients, mean SFCT (268.37 ± 46.50 μm) and mean arterial inner diameter (93.46 ± 9.70 gin) were signilicantly lower than that in controls (P 〈 0.00 ), P = 0.048, respectively). Mean arterial outer diameter ( 131.74 ± 10.87 μm), venous inner ( 128.99 ± 13.62 μm) and outer diameter ( 164.82 ±14.77 μm), and mean arterial ( 19.13 ±1.85 μm) and venous ( 17.91 ±2.76 μm) wall thickness were significantly higher than that in controls (P = 0.023, P 0.004, P 〈 0.001, P 〈 0.001, respectively). Arterial inner diameter (r= - 0.39, P 0.044)] AVRin (r -0.65, P 〈 0.001), and AVR,, (r =0.56, P - 0.002) showed a negative correlation with the number of small infarcts. Venous inner diameter (rs=0.46, P= 0.016) showed a positive correlation with the number of small infarcts. Venous inner diameter (r 0.59, P = 0.002), outer diameter (rs=0.47, P= 0.017), showed a positive correlation with the number of cerebral microbleeds (CM Bs). AVRin (r =0.52, P = 0.007) and AVRout (r = -0.40, P =0.048) showed a negative correlation with the number of CMBs. Conclusions: Measurement of retinal vessels using EDI-OCT correlates moderately well with MRI parameters. EDI-OCT might bc a useful evaluation tool for CADASIL patients.
文摘Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), is the most common cause of inherited cerebral small vessel disease, inherited stroke and inherited vascular dementia. It is not infrequent for CADASIL to be mistaken and mistreated for multiple sclerosis (MS). A much less frequent but existing scenario is the co-occurrence of CADASIL and MS (or MS-like inflammatory condition). Such patients may present with spinal cord lesions, brain or spinal cord enhancing lesions, positive oligoclonal bands and high IgG index in the cerebrospinal fluid and good response to corticosteroids or immunomodulating treatments. CADASIL through various mechanisms may trigger or modulate autoimmune reactions, and either be complicated by an inflammatory component or cause an MS-like disorder.
文摘Objective To investigate the clinical features,imaging features,pathological features and gene diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL).Methods Clinical manifestations,signs and imaging characteristics of a female patient hospitalized in the First Affiliated Hospital of Zhengzhou University for more than 10 days due to headache were analyzed,and skin biopsy and HTRA1 and Notch3 gene detection were performed.
文摘Background: Diabetic foot is a frequent complication of diabetes, of multifactorial origin, associating nervous and/or circulatory disorders to which infection is often added. Its care is multidisciplinary and requires coordination between different actors. In this context, arterial doppler ultrasound is essential in the diagnosis of diabetic arteriopathy and participates in therapeutic decision-making. The aim of this study was to describe the abnormalities found on Doppler ultrasonography of patients hospitalized for the diabetic foot in the Ivory Coast. Methods: We conducted a retrospective descriptive study including 235 patients hospitalized for the diabetic foot in the Endocrinology department of the Yopougon University Hospital from February 2002 to December 2015. All records of patients who performed arterial Doppler ultrasound of the lower limbs were selected and the various abnormalities were described. Results: The sex ratio (M/F) was 1.1 (124 men to 111 women). The predominant age group was 61.2 years. Type 2 diabetes was found in 97.4% of cases. The average evolution of diabetes was 8.9 years with extremes of 1 and 32 years. Wet gangrene was the most common type of lesion found in 75.8% of cases. On ultrasonography, 98.7% of the patients had an arterial abnormality of the lower limbs. It was bilateral in 62.2% of cases, dominated by atheromatous overloads and mediacalcosis in 46.4% and 43.8% of cases, respectively. Arterial stenosis was lesions hemodynamically found in 76.3% of cases and arterial occlusions in 32.7% of cases. The amputation rate was 72.7%. Conclusion: This study shows the high frequency of arterial abnormalities in patients with the diabetic foot with a predominantly distal involvement. Arterial Doppler ultrasound of the lower limbs remains an essential tool in the care of diabetic foot. This easily accessible, non-invasive examination has a key role in therapeutic decision-making.
文摘Mitochondrial disorders(MIDs)are usually multisystem disorders(mitochondrial multiorgan disorder syndrome)either on from onset or starting at a point during the disease course.Most frequently affected tissues are those with a high oxygen demand such as the central nervous system,the muscle,endocrine glands,or the myocardium.Recently,it has been shown that rarely alsothe arteries may be affected(mitochondrial arteriopathy).This review focuses on the type,diagnosis,and treat-ment of mitochondrial vasculopathy in MID patients.A literature search using appropriate search terms was carried out.Mitochondrial vasculopathy manifests as either microangiopathy or macroangiopathy.Clinical manifestations of mitochondrial microangiopathy include leukoencephalopathy,migraine-like headache,stroke-like episodes,or peripheral retinopathy.Mitochondrial macroangiopathy manifests as atherosclerosis,ectasia of arteries,aneurysm formation,dissection,or spontan-eous rupture of arteries.The diagnosis relies on the documentation and confirmation of the mitochondrial metabolic defect or the genetic cause after exclusion of non-MID causes.Treatment is not at variance compared to treatment of vasculopathy due to non-MID causes.Mitochondrial vasculopathy exists and manifests as micro-or macroangiopathy.Diagnosing mitochondrial vasculopathy is crucial since appropriate treatment may prevent from severe complications.
基金the National Natural Science Foundation of China,No,31100783Fengxian District Science Technology Commission Foundation of Shanghai,No.2010-101101
文摘This study is a report on one 59-year-old male patient with hereditary multi-infarct dementia who came from a family with a positive family history of this disease. The patient primarily presented with dizziness accompanied by vertigo and a positive Romberg's sign. Skull magnetic resonance images showed lacunar infarction in bilateral temporal lobes, bilateral basal ganglias, periventricular white matter and semioval center, and ischemic focus accompanied by white matter degeneration, exhibiting senile morphological brain changes. No abnormalities were observed by skull magnetic resonance angiography. Gene detection further confirmed that there was Arg607Cys heterozygous mutation in exon 11 of the Notch3gene. No other mutations in exons were detected.
基金Grant 81425002 from the National Science Fund for Distinguished Young ScholarsGrants 81670052,and 81870050 from the National Natural Science Foundation of ChinaGrant 2018ZX09711001-003-012 from the Drug Innovation Major Project,CAMS Fund for Key Laboratory of Pulmonary Vascular Medicine(2017PT32016).
文摘Background:The etiology of pulmonary arterial hypertension associated with congenital heart disease(PAHCHD)is complicated and the phenotype is heterogeneous.Genetic defects of NOTCH3 were associated withcerebral disease and pulmonary hypertension.However,the relationship between NOTCH3 mutations and theclinical phenotype has not been reported in CHD-PAH.Methods:We eventually enrolled 142 PAH-CHD patientsfrom Fuwai Hospital.Whole exome sequencing(WES)was performed to screen the rare deleterious variants ofNOTCH3 gene.Results:This PAH-CHD cohort included 43(30.3%)men and 99(69.7%)women with the meanage 29.8±10.9 years old.The pathogenic or likely pathogenic mutations of NOTCH3 were identified in five cases.Patients 2,5,8 and 11 carried the same NOTCH3 mutation c.1630C>T(pArg544Cys),which is the hot-spotmutation for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL).Patient 3 carried the NOTCH3 mutation p.Arg75Gln that has also been reported to be associatedwith the CADASIL.Patients 2,5,8,11 took the examination of the cerebral magnetic resonance imaging(MRI)and confirmed the phenotype of CADASIL.Conclusions:We first reported the NOTCH3 rare mutationsand CADASIL phenotypes in CHD-PAH patients.The NOTCH3 rare variants were with a relatively high positiverate and CADASIL phenotypes were likely enriched in PAH-CHD patients.The preoperative neurological examinationmight be recommended for PAH-CHD patients to determine the surgical contraindications and reduceintraoperative neurological complications.
基金Supported by Heilongjiang Provincial Natural Science Foundation surface project(H2016068)"Excellent Innovative Talents Support Plan"in Heilongjiang University of Chinese Medicine(2018RCD10)。
文摘Objective:To observe the effect of catgut-embedding therapy at five neck points in the treatment of cervical spondylotic arteriopathy(CSA)and analyze its effects on the hemodynamics of patients with CSA.Methods:Using the computer randomization method,72 patients with CSA were divided into a catgutembedding therapy group(n=36,none dropped out)and a western medication group(n=36,none dropped out).In the catgut-embedding therapy group,the therapy was applied to five neck points,i.e.bilateral Jǐngjiājǐ(颈夹脊)at C5,bilateral Jǐngjiājǐ(颈夹脊)at C6,and Dàzhuī(大椎GV14)once a week.One3-week treatment session was required.In the western medication group,flunarizine hydrochloride 5 mg capsules were administered orally once daily for 3 weeks.Efficacy was assessed before and after 3 weeks treatment using a functional evaluation scale for cervical spondylotic arteriopathy(FS-CSA).Changes in vertebral-basilar arterial hemodynamics,serum nitric oxide(NO)level,and plasma endothelin(ET)level were detected.Results:Efficacy was assessed when the treatment session was completed.The total efficacy rate was significantly higher in the catgut-embedding therapy group(86.1%)than in the western medication group(61.1%;P<0.01).The after treatment FS-CSA score was reduced compared with baseline score in both groups(P<0.05),and the reduction in the catgut-embedding therapy group was superior to that in the Western medication group(P<0.05).Compared with baseline,the flow velocity and pulsatility index of the bilateral vertebral and basilar arteries increased at each period in both groups(P<0.05)except for the left systolic velocity of the vertebral artery after treatment.The increase in the catgut-embedding therapy group was greater than that in the western medication group(P<0.05).After treatment,the serum NO concentration was increased and the plasma ET concentration was reduced compared to baseline in both groups(P<0.05),while the improvements in the catgut-embedding therapy group were superior to those in the western medication group(P<0.05).Conclusion:The clinical efficacy in the catgut-embedding therapy group was superior to that in the western medication group.Catgut-embedding therapy at five neck points may effectively improve psychological and functional conditions,promote vertebral basilar arterial supply,and relieve clinical symptoms in patients with CSA.