Polimorfismo de metilenotetrahidrofolato reductasa en pacientes jóvenes con ataque cerebrovascular e infección por virus de inmunodeficiencia humana / Methylenetetrahydrofolate reductase polymorphism in young patients with stroke and human immunodeficiency virus

Resumen Introducción: El ataque cerebrovascular (ACV) en pacientes jóvenes está asociado a factores de riesgo no convencionales y su búsqueda activa puede disminuir la recurrencia de estos eventos. Presentación del caso: Se presentaron dos casos de pacientes jóvenes con infección por virus de inmuno-deficiencia humana (VIH) que mostraron síntomas neurológicos, con evidencia en resonancia magnética (RM) de un evento isquémico de evolución subaguda y niveles de homocisteína elevados, a quienes se les realizó una búsqueda de mutación de metilenotetrahidrofolato reductasa (MTHFR), la cual fue positiva para mutación homocigota. Discusión: La infección por VIH aumenta el riesgo de ACV en la población joven, sin embargo, su efecto en pacientes con viremia controlada está poco claro (1). La presencia de déficit de proteína S y la hiperhomocisteinemia son los estados procoagulantes más frecuentes en pacientes con VIH (2). El papel que juegan la presencia de mutaciones genéticas en relación con la hiperhomocisteinemia en pacientes con VIH aún está por establecerse. Conclusiones: La búsqueda activa de factores de riesgo no frecuentes en pacientes jóvenes con ACV juega un rol importante en la prevención de futuros eventos y modificación de la enfermedad. Así, las pruebas genéticas abren nuevas posibilidades para entender la fisiopatología de la enfermedad y encontrar nuevas relaciones entre factores de riesgo.

Abstract Introduction: Stroke in young patients is associated with unconventional risk factors. The active search for these risk factors can reduce the recurrence of such events. Case presentation: We present two cases of young patients with human immunodeficiency virus (HIV) infection presenting neurological symptoms, with evidence of a subacute ischemic event in the magnetic resonance, and high homocysteine levels who underwent a search for the methylenetetrahydrofolate reductase (MTHFR) mutation, which was positive for the homozygous mutation. Discussion: HIV infection increases the risk of stroke in the young population; however, its effect in patients with controlled viremia is unclear. The presence of protein S deficiency and hyperhomocysteinemia are the most frequent procoagulant states in patients with HIV. The role of genetic mutations and hyperhomocysteinemia in patients with HIV is yet to be established. Conclusion: The active search for rare risk factors in young stroke patients plays an important role in preventing future events and modifying the course of the disease. Genetic tests open up new possibilities to understand the pathophysiology of the disease and find new relationships between risk factors.

Analysis of Related Characteristics of Cerebral Infarction Patients with Hyperhomocysteinemia / 医学研究杂志

Objective To investigate the common symptoms and associated disease characteristics of hyperhomocysteinemia in cere-bral infarction patients and the correlation analysis of influencing factors.Methods A total of 151 participants with blood homocysteine≥15μmol/L and 86 participants with blood homocysteine＜15μmol/L were identified as the hyperhomocysteinemia with cerebral infarction group(H group)and the normal cerebral infarction group(N group),respectively.The symptoms and influence factors in the two groups were compared.Results Among cerebral infarction patients,patients in H group were older(P=0.049),more male(P=0.002),had a history of smoking(P=0.025),diabetes(P=0.008),hyperlipidemia(P=0.034),folate deficiency(P=0.002)and associated cognitive impairment(P=0.009)and language barrier(P=0.043).Binary Logistic regression analysis showed that age(P=0.023),diabetes(P=0.018),folate deficiency(P=0.026),and cognitive impairment(P=0.019)were independent related factors of in-creased blood homocysteine level.Conclusion Cerebral infarction patients with hyperhomocysteinemia are elderly,and most of them have diabetes,folate deficiency,and cognitive impairment.

Correlation Between the Prevalence of HHcy，Blood Lipids and Uric Acid in the Tibetan Population in Northwest Xizang / 中山大学学报(医学科学版)

ObjectivesTo understand the prevalence of hyperhomocysteinemia （HHcy） in the Tibetan population in Northwest Xizang， and its association with lipids and blood uric acid， and to explore the prevention and treatment strategies for chronic diseases such as HHcy in Northwest Xizang. MethodsIn this survey， questionnaires， physical examinations， and biochemical tests were conducted on 3432 Tibetan residents aged 18 years and older who had resided in Northwest Xizang （Ngari Prefecture， Nagqu City） for more than 6 months using a multistage stratified whole cluster random sampling method. ResultsThe prevalence of HHcy among Tibetan residents in Northwest Xizang was 75.7%， much higher than that of the average population in China （37.2%）. Blood uric acid、high-density lipoprotein cholesterol and low-density lipoprotein cholesterol were risk factors for HHcy. ConclusionThe prevalence of HHcy is higher in the Tibetan population in northwest Xizang. Therefore， the local governments should urge people to establish a healthy lifestyle and enhance early intervention for HHcy by improving diet and lifestyle， thereby reducing the risk of cardiovascular， cerebrovascular and other related diseases.

Hemorrhagic Cerebrovascular Disease: An Unusual Presentation of Hyperhomocysteinemia / Accidente cerebrovascular hemorrágico: una inusual presentación de hiperhomocisteinemia / Acidente vascular cerebral hemorrágico: uma apresentação incomum da hiper-homocisteinemia

Introduction: Stroke is a major cause of morbidity and mortality worldwide, with hemorrhagic stroke being the deadliest form of acute stroke. Therefore, the cause of the event should be determined to direct the associated therapy and take preventive measures. Hyperhomocysteinemia has been described as a rare etiology of stroke. Although hyperhomocysteinemia has been associated with venous thrombotic events, altered endothelial function, and procoagulant states, its clinical role in stroke remains controversial. Case description: We present a case of a 60-year-old male patient with primary autoimmune hypothyroidism who presented with dysarthria, facial paresis, and left upper-limb monoparesis after sexual intercourse. A simple skull computed tomography scan showed hyperintensity in the right basal ganglion, indicating an acute hemorrhagic event. Etiological studies were performed, including ambulatory blood pressure monitoring, cerebral angiography, and transthoracic echocardiogram, which ruled out underlying vascular pathology. During follow-up, vitamin B12 deficiency and hyperhomocysteinemia were detected, without other blood biochemical profile alterations. Supplementation was initiated, and homocysteine levels gradually decreased, without new neurological deficits observed during follow-up. Conclusion: Quantification of homocysteine should be considered in patients with a cerebrovascular disease without apparent cause, as documenting hyperhomocysteinemia and correcting its underlying etiology are essential not only for providing appropriate management but also for preventing future events.

Introducción: el accidente cerebrovascular es una causa importante de morbilidad y mortalidad en todo el mundo, y el accidente cerebrovascular hemorrágico es la forma más mortífera de accidente cerebro- vascular agudo. La determinación de la causa del evento es esencial para dirigir la terapia asociada y poder tomar medidas preventivas. La hiperhomocisteinemia se ha descrito como una etiología poco frecuente de accidente cerebrovascular. Aunque esta se ha asociado con eventos trombóticos venosos, disfunción endotelial alterada y estados procoagulantes, sigue siendo controvertido su papel clínico en el accidente cerebrovascular. Descripción del caso: se presenta el caso de un hombre de 60 años con hipotiroidismo autoinmune primario que presentó disartria, paresia facial y monoparesia del miembro superior izquierdo después de un encuentro sexual. Una simple tomografía computarizada de cráneo mostró hipointensidad en la región del ganglio basal derecho, que indicaba un evento hemorrágico agudo. Se realizaron estudios etiológicos, incluyendo monitorización ambulatoria de la presión arterial, angiografía cerebral y ecocardiograma transtorácico, que descartaron patología vascular subyacente. Durante el seguimiento, se detectó deficiencia de vitamina B12 e hiperhomocisteinemia, sin otras alteraciones en el perfil bioquímico sanguíneo. Se inició la suplementación y los niveles de homocisteína disminuyeron gradualmente, sin observar nuevos déficits neurológicos durante el seguimiento. Conclusión: la cuantificación de homocisteína debe ser considerada en casos de enfermedad cerebrovascular sin causa aparente, dado que documentar la hiperhomocisteinemia y corregir su etiología subyacente es esencial no solo para proporcionar un manejo adecuado, sino también para prevenir eventos futuros.

Introdução: o acidente vascular cerebral (AVC) é uma das principais causas de morbidade e mortalidade em todo o mundo, sendo o AVC hemorrágico a forma mais letal de AVC agudo. A determinação da causa do evento é essencial para direcionar a terapia associada e poder tomar medidas preventivas. A hiperhomocisteinemia tem sido descrita como uma etiologia rara de acidente vascular cerebral. Embora a hiper-homocisteinemia tenha sido associada a eventos trombóticos venosos, disfunção endotelial alterada e estados pró-coagulantes, seu papel clínico no AVC permanece controverso. Descrição do caso: apresentamos o caso de um homem de 60 anos com hipotireoidismo autoimune primário que apresentou disartria, paresia facial e monoparesia do membro superior esquerdo após relação sexual. A tomografia computadorizada de crânio mostrou hipointensidade na região do gânglio da base direito, indicando evento hemorrágico agudo. Foram realizados estudos etiológicos, incluindo monitorização ambulatorial da pressão arterial, angiografia cerebral e ecocardiograma transtorácico, que descartaram patologia vascular subjacente. Durante o acompanhamento, foram detectados deficiência de vitamina B12 e hiper-homocistei- nemia, sem outras alterações no perfil bioquímico sanguíneo. A suplementação foi iniciada e os níveis de homocisteína diminuíram gradualmente, sem novos déficits neurológicos observados durante o acompanhamento. Conclusão: a quantificação da homocisteína deve ser considerada em casos de doença vascular cerebral sem causa aparente, pois documentar a hiper-homocisteinemia e corrigir sua etiologia subjacente é essencial não apenas para fornecer manejo adequado, mas também para prevenir eventos futuros.

Homocysteine level of Tibetan population settled down at different altitudes / 基础医学与临床

Objective To investigate and analyze the level of homocysteine(Hcy)in Tibet and to analyze the differences of Hcy level in different altitude regions,genders and ages,and thus to provide the prevalence profile of hyperhomocysteine and the differences in relevant tests between HHcy(hyperhomocysteinemia)and non-HHcy pop-ulations.Methods Totally 1 615(male n＝585)subjects were selected from Ngari,Lhasa,Shigatse and Nyingchi plat-eau areas of Tibet by stratified cluster sampling.Serum Hcy level was analyzed and the difference of Hcy level in pop-ulations located at different altitude plateau areas,gender groups were found.The prevalence of hyperhomocysteine and related test were analyzed.Kruskal Wallis test was used to compare Hcy levels in different altitudes,genders and age groups,and Pearson Chi-square test was used to compare HHcy prevalence.Variance analysis was used for the differences of different test indicators between non-HHcy and HHcy populations.Results The level of Hcy in differ-ent regions and different genders were statistically significant,which was higher in males than that in females,and higher in Lhasa and Shigatse than in Nyingchi and Ngari.There was difference in serum HHcy prevalence among dif-ferent genders,regions and age groups.Males showed a higher level than females,people from Lhasa and Shigatse showed a higher level than those from Nyingchi and Ngari.Conclusions The incidence of hyperhomocysteinemia in Tibet is statistically significant in different areas,different genders and different age groups.So this study provides a scientific basis for the rational use of Hcy as an indicator in clinical practice of prevention and treatment of related diseases in plateau areas.

Homocysteine and ischemic stroke / 国际脑血管病杂志

Studies have confirmed that homocysteine is associated with ischemic stroke. This article reviews the correlation between homocysteine and ischemic stroke risk, etiological type, severity, outcome, as well as the research progress of reducing homocysteine to prevent ischemic stroke.

Homocysteine and intracerebral hemorrhage / 国际脑血管病杂志

An increasing number of studies have shown that homocysteine is associated with intracerebral hemorrhage. This article reviews the correlation between homocysteine and the incidence risk, clinical characteristics, clinical outcomes of intracerebral hemorrhage, as well as the treatment methods for reducing homocysteine.

Clinical characteristics and dietary factors of elderly type 2 diabetes mellitus complicated with hyperhomocysteinemia / 公共卫生与预防医学

Objective To analyze in elderly type 2 diabetes (diabetes mellitus type 2, T2DM) combined high homocysteine levels (Hyperhomocysteinemia, HHcy) clinical characteristics and dietary factors, provide theoretical basis for T2DM combined HHcy patient's diagnosis and treatment. Methods A total of 186 elderly T2DM patients admitted to our hospital from January 2020 to June 2022 were selected and divided into control group (without HHcy) and observation group (with HHcy) according to whether the patients were complicated with HHcy. The age, gender, body mass index (BMI), mean course of disease, SBP, fasting blood glucose (FPG), glycosylated hemoglobin (HbA1c), triglyceride (TG), low density lipoprotein cholesterol (LDL-C) levels, whether complicated with carotid plaque were compared between the two groups. Univariate analysis and logistic regression analysis were used to analyze the dietary factors affecting HHcy in T2DM patients. Results Among the 186 T2DM patients, 47 (25.27%) had HHcy. The serum Hcy level in the experimental group was significantly higher than that in the control group (P0.05). In terms of dietary factors , there were significant differences between the two groups in daily vegetable intake, daily meat intake, daily quantity of soy products (P1050g (OR=3.652) were dietary independent risk factors for HHcy in T2DM patients (P1050 g. Dietary adjustment should be actively adopted to reduce the risk of HHcy in T2DM patients.

Papilledema and abducens nerve palsy associated with vitamin B12 deficiency

Papilledema is defined as optic disc swelling that is secondary to elevated intracranial pressure. Vision is usually well preserved with this condition. The optic discs appear blurred in papilledema. Elevation in intracranial pressure is due to variety of reasons of which intracranial hemorrhageis the most common. We present a case in which our patient developed papilledema due to vitamin B12 deficiency. Lateral rectus muscle palsy occurs due to abducens nerve palsy. The lateral rectus muscle is responsible for lateral movement of the eyeball, specificallyabduction. Its palsy results in sudden onset of horizontal double vision, which is worse when the patient looks to the affected side. There is also limited outward movement of the affected eye. Abducens nerve palsy can occur due to ischemia injury, stroke, infection, brain tumour, elevated intracranial pressure, or inflammation of the nerve. In our patient the abducens nerve palsy was due to homocysteinemia secondary to dietary vitamin B12 deficiency. Homocysteine is a potent atherosclerotic risk factor and can cause ischemic nerve palsy, as seen in our patient.

The Role of High Concentrations of Homocysteine for the Development of Fetal Growth Restriction / O papel de altas concentrações de homocisteína para o desenvolvimento da restrição de crescimento fetal

Abstract Objective To assess homocysteine (Hcy) levels in the three trimesters of pregnancy in women with fetal growth restriction (FGR) and to evaluate the role of Hcy as a possible predictor of FGR. Methods A total of 315 singleton pregnant women were included in the present prospective cohort study and were monitored since the 1st trimester of pregnancy before delivery. Newborns were monitored for the first 7 days of life. Patients who had risk factors for FGR were excluded. Fetal growth restriction was defined according to uterine fundal height (< 10 percentile), ultrasound fetometry (< 5 percentile), and anthropometry of newborns (<5 percentile). The concentrations of Hcy were detected at between 10 and 14, between 20 and 24, and between 30 and 34 weeks of pregnancy by enzyme-linked immunosorbent assay (ELISA). Receiver operating characteristics (ROC) curve test and diagnostic odds ratio (DOR) were performed to evaluate the results of ELISA. Results The concentration of Hcy in patients with FGR was 19.65 umol/L at between 10 and 14 weeks, compared with 9.28 umol/L in patients with normal fetal growth (p<0.0001). The optimal cut-off level for Hcy in the 1st trimester of pregnancy was>13.9 umol/L with AUC 0.788, sensitivity of 75%, specificity of 83.6%, and DOR of 15.2. Conclusion Assessment of serum Hcy concentration may be used as a predictor of FGR, with the highest diagnostic utility in the 1st trimester of pregnancy.

Resumo Objetivo Avaliar os níveis de homocisteína (Hcy) em três trimestres da gravidez em mulheres com restrição de crescimento fetal (FGR, na sigla em inglês) e avaliar o papel da Hcy como possível preditor de FGR. Métodos Um total de 315 gestantes solteiras foram incluídas no presente estudo de coorte prospectivo e monitoradas desde o 1° trimestre de gravidez antes do parto. Os recém-nascidos foram acompanhados durante os primeiros 7 dias de vida. Pacientes que apresentam fatores de risco para FGR foram excluídos. A FGR foi definida de acordo com a altura do fundo do útero (< percentil 10), ultrassonografia fetometria (< percentil 5) e antropometria dos recém-nascidos (< percentil 5). As concentrações de Hcy foram detectadas entre 10 e 14, entre 20 e 24 e entre 30 e 34 semanas de gravidez por ensaio de imunoabsorção enzimática (ELISA, na sigla em inglês). O teste da curva das características de operação do receptor (ROC, na sigla em inglês) e a razão de chances de diagnóstico (DOR, na sigla em inglês) foram realizados para avaliar os resultados do ELISA. Resultados A concentração de Hcy em pacientes com FGR foi de 19,65 umol/L entre 10 e 14 semanas, em comparação com 9,28 umol/L em pacientes com crescimento fetal normal (p<0,0001). O nível de corte ideal para Hcy no 1° trimestre da gravidez foi>13,9 umol/L com AUC 0,788, sensibilidade de 75%, especificidade de 83,6%, e DOR 15,2. Conclusão A avaliação da concentração sérica de Hcy pode ser usada como um preditor de FGR, com maior utilidade diagnóstica no 1° trimestre de gravidez.

Association between MTHFR gene polymorphism and primary hypertension in children / 中国当代儿科杂志

OBJECTIVES@#To study the distribution characteristics of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in children with primary hypertension, and to explore the association between MTHFR C677T gene polymorphism and H-type hypertension in children.@*METHODS@#A total of 121 children with primary hypertension who were hospitalized in the department of cardiovascular medicine from January to July 2021, newly diagnosed, and untreated were retrospectively selected as the subjects. The children were divided into three groups: CC genotype (19 children), CT genotype (51 children), and TT genotype (51 children). According to the serum homocysteine (Hcy) level, they were divided two groups: H-type hypertension (47 children) and simple hypertension (74 children). The medical data were compared between the groups. The association between MTHFR C677T gene polymorphism and H-type hypertension was evaluated.@*RESULTS@#The mutation frequency of T allele in children with primary hypertension was significantly higher than that in healthy adults in Beijing and Chinese Han adults (P<0.001). The serum Hcy level in the TT genotype group was significantly higher than that in the CC and CT genotype groups (P<0.001). The serum Hcy level in the H-type hypertension group was significantly higher than that in the simple hypertension group (P<0.001), and MTHFR C677T was mostly TT genotype, which was associated with the risk of H-type hypertension (OR=12.71, P<0.001). There was no significant difference in the incidence rate of target organ damage between the H-type hypertension and simple hypertension groups (P>0.05). However, multiple organ involvement was observed in the H-type hypertension group at diagnosis, accounting for 11% (5/47).@*CONCLUSIONS@#The mutation rate of MTHFR C677T T allele in children with primary hypertension is high and associated with the serum Hcy level. TT genotype is an independent risk factor for H-type hypertension in children, and it may be related to the severity of early target organ damage.

Cerebral infarction complicated with multiple arterial thrombosis caused by cystathionine beta-synthase gene mutation in youth: a case report / 中华神经科杂志

Hyperhomocysteinemia (HHcy) is one of the independent risk factors for youth cerebral infarction. Gene mutation of key enzymes in homocysteine metabolism is the main cause of HHcy. Few cases of cystathionine beta-synthase (CBS) compound heterozygous mutation complicated with pulmonary embolism and lower extremity artery embolism have been reported. This article reported a young cerebral infarction patient complicated with pulmonary embolism and lower extremity artery embolism, who was subsequently detected with significantly elevated blood Hcy, and finally etiologically diagnosed with CBS 833 T>C/1082C>T compound heterozygous mutation. With the treatment of folic acid, methyl cobalt amine, vitamin B 6 and anticoagulant, the blood Hcy has been gradually declined, and no new thrombotic events occurred during the follow-up period of a year.

Status of hyperhomocysteinemia in China: results from the China Stroke High-risk Population Screening Program, 2018 / 医学前沿

A nationwide survey was conducted from October 2018 to September 2019 to assess the prevalence of hyperhomocysteinemia (Hhcy) and its influencing factors in China. A standardized questionnaire was used to collect information. Hhcy was defined as the level of serum homocysteine (HCY) ⩾ 15.0µmol/L. The H-type hypertension (HHYP) was defined as hypertension with an elevated serum HCY 15.0µmol/L). Finally, 110 551 residents ⩾ 40 years of age from 31 provinces in the mainland of China were included. Overall, the median serum HCY level was 10.9µmol/L (interquartile range 7.9-15.1). A total of 28 633 participants (25.9%) were defined as Hhcy. The Hhcy prevalence ranged from 7.9% in Shanghai to 56.8% in Tianjin. The data showed that serum HCY levels were associated with age, male gender, cigarette smoking, hypertension, diabetes, ethnicity, endurance in exercise (inverse), and fruit and vegetable intake (inverse). In addition, 15 486 participants were defined as HHYP, and the rate was 14.0%. HHYP was an independent predictor of stroke with an adjusted odds ratio of 1.752 (95% CI 1.338-2.105). The geographical distribution pattern of the Hhcy epidemic reflects dynamic differences, and national strategies should be carried out to further improve the care of patients with Hhcy across China.

The protective effect of miR-5088-5p on hepatocyte pyroptosis induced by homocysteine / 中国药理学通报

Aim To explore the role of miR-5088-5p in hepatocyte pyroptosis induced by homocysteine. Methods Hepatocytes were cultured and divided into control group and Hcy group. After transfected miR-5088-5p NC and miR-5088-5p mimic under Hcy treatment, the expression of NLRP3, Caspase 1 and IL-1β was detected by Western blot. The expression of miR-5088-5p was detected by RT-qPCR. CBS

Hyperhomocysteinemia is a risk factor for intracranial aneurysms / 国际脑血管病杂志

Objective:To investigate the correlation between hyperhomocysteinemia (HHcy) and the onset of intracranial aneurysm (IAs).Methods:Patients with IA visited the Department of Neurosurgery, the First People's Hospital of Kashgar from February 2017 to November 2020 were retrospectively included as a case group, while patients with trigeminal neuralgia visited the hospital at the same time were selected as a control group. Demographic data, vascular risk factors and laboratory findings were compared between the two groups. Multivariate logistic regression analysis was used to determine the correlation between HHcy and IAs. Results:A total of 150 patients with IA (case group) and 112 patients with trigeminal neuralgia (control group) were included. Univariate analysis showed that there were significant differences in age, hypertension, drinking, triglyceride, low-density lipoprotein cholesterol, total Hcy and HHcy between the two groups (all P<0.05). Multivariate logistic regression analysis showed that there were significant independent correlation among males (odds ratio [ OR] 0.320, 95% confidence interval [ CI] 0.167-0.613; P=0.001), hypertension ( OR 4.915, 95% CI 2.674-9.036; P<0.001), triglycerides ( OR 1.342, 95% CI 1.030-1.750; P=0.030), total Hcy ( OR 1.171, 95% CI 1.082-1.268; P<0.001), HHcy ( OR 3.574, 95% CI 1.522-8.391; P=0.003) and IAs. Conclusion:HHcy is an independent risk factor for the increased risk of IAs.

Correlation between MTHFR gene C677T polymorphism, homocysteine and early neurological deterioration in Han population with acute ischemic stroke in Chengdu area / 国际脑血管病杂志

Objective:To investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and early neurological deterioration (END) in Han population with acute ischemic stroke in Chengdu area, and the interaction with other traditional risk factors.Methods:Consecutive Han patients with acute ischemic stroke admitted to the Department of Neurology, the Third People's Hospital of Chengdu from January 2017 to June 2019 were enrolled prospectively. Using the candidate gene association study method, MTHFR gene C677T polymorphism was used as a genetic marker to analyze the correlation between END and MTHFR gene polymorphism, and analyze the interaction of gene-END traditional risk factors.Results:A total of 434 patients with acute ischemic stroke were enrolled in the study, and 129 had END (29.7%). Multivariate logistic regression analysis showed that hyperglycemia (odds ratio [ OR] 2.410, 95% confidence interval [ CI] 1.436-4.046; P<0.001), hyperhomocysteinemia ( OR 2.570, 95% CI 1.229-5.376; P=0.012) and moderate to severe neurological deficit (baseline National Institutes of Health Stroke Scale score >5) ( OR 2.158, 95% CI 1.337-3.484; P=0.002) at admission were independently correlated with END. There was a correlation between C677T polymorphism and END. TT genotype ( OR 1.710, 95% CI 1.021-2.863; P=0.002) and A allele ( OR 1.583, 95% CI 1.181-2.121; P=0.002) could significantly increase the risk of END. Interaction analysis showed that there was interaction effect between C677T polymorphism and hyperglycemia at admission, alcohol drinking and moderate to severe neurological deficit. Interaction could increase the risk of END, but it did not reach statistical significance ( OR 1.237, 95% CI 0.227-6.734; P=0.806). Conclusion:MTHFR gene C677T polymorphism and hyperhomocysteinemia are associated with END in Han population with acute ischemic stroke in Chengdu area.

Methylmalonic acidemia involving high cervical spinal cord leading to respiratory failure: a case report / 中国综合临床

Late onset methylmalonic acidemia (MMA) is a rare genetic metabolic disease.This case is a 46 year old adult patient with MMA complicated with hyperhomocysteinemia.It starts with progressive limb weakness and mental abnormality, and has dysuria and respiratory failure.Neurological examination showed decreased muscle strength of limbs and pyramidal tract sign.The levels of blood homocysteine and urinary methylmalonic acid increased significantly.Head, neck, thoracolumbar magnetic resonance imaging showed abnormal signals in the spinal cord from the level of foramen magnum to the level of lumbar 1 vertebral body.Two heterozygous variants of mmachc were found by gene detection: c: 609G>A, c: 349G>A, consistent with cobalamin C deficiency.Treat with L-carnitine, vitamin B12 and betaine.The patients′ mental symptoms, limb muscle strength and respiratory failure were improved, and the level of blood homocysteine also decreased significantly.

Mechanism of hyperhomocysteinemia induced renal injury in CBS+/- mice / 中国组织工程研究

BACKGROUND: In chronic kidney disease, there is often an increase in the level of homocysteine, which can lead to podocyte apoptosis, but the specific mechanism is not clear. OBJECTIVE: To investigate the mechanism of hyperhomocysteinemia-induced renal injury in Cbs+/- mice. METHODS: Cbs+/+ mice (control group) and Cbs+/- mice (model group) with similar body weight were selected, with 10 mice in each group, and were fed with high methionine diet. After 8 weeks, the mice were killed, the serum was separated and the kidney tissue was obtained. The levels of serum homocysteine, urea nitrogen and creatinine were measured by automatic biochemical analyzer. The renal injury was observed by Periodic Acid-Schiff staining and transmission electron microscope. TUNEL staining was used to observe the apoptosis of glomeruli. The protein expression levels of Bax, Bcl-2 and caspase12 were detected by western blot. RESULTS AND CONCLUSION: Compared with Cbs+/+ mice, the level of serum homocysteine, urea nitrogen and creatinine in Cbs+/- mice were significantly increased (P < 0.01). The Periodic Acid-Schiff staining results showed that the glomerular basement membrane of Cbs+/+ mice was clear and the thickness was uniform, while the Cbs+/- mouse glomerular basement membrane showed varying degrees of uneven thickness, widening of membrane area and thickening of matrix. Under the transmission electron microscope, the glomerular basement membrane of Cbs+/+ mice was clear and the foot process was regular, while the glomerular basement membrane of Cbs+/- mice was locally thickened and the foot process was irregular fusion. TUNEL staining showed that the number of apoptotic cells in glomeruli of Cbs+/- mice was significantly increased compared with Cbs+/+ mice; meanwhile, western blot detection showed that the protein levels of Bax/Bcl-2 and caspase12 were significantly increased (P < 0.05). To conclude, podocyte apoptosis plays an important role in hyperhomocysteinemia-induced renal injury in Cbs+/- mice.

Correlation of homocysteine levels with gene polymorphisms of homocysteine metabolic enzymes in physical examination in Nan Chong / 公共卫生与预防医学

Objective To study the correlation of plasma homocysteine (Hcy) levels with the gene polymorphisms of homocysteine metabolic enzymes in physical examination in Nan Chong. Methods A cross-sectional study design was adopted. A total of 470 Han people who received physical examination in the outpatient clinic of Nanchong Central Hospital were enrolled in this study. Blood samples were collected from the research subjects, and general clinical data of the subjects were collected. The plasma Hcy level was determined by a commercial homocysteine assay kit. Genomic DNA was extracted, and a newly-developed technology (improved Multiplex Ligation Detection Reaction, iMLDR) was used to detect target genes and SNPs. The gene polymorphism of Hcy metabolism enzymes MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G was detected, and its correlation with plasma levels of Hcy was analyzed. Results (1) The distribution frequency of the heterozygous genotype of MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G was 46.38%, 35.32%, 17.45%, and 40.85%, while the distribution frequency of the homozygous genotype was 12.13%, 4.04%, 1.49%, and 7.66%, respectively. There was no statistically significant difference in allele frequencies between male and female populations by chi-square test (2) The detection rate of hyperhomocysteinemia (HHcy) was 34.68%. There was significant difference in the levels of plasma Hcy among the three genotypes of MTHFR C677T, and the heterozygous genotype and homozygous genotype of MTHFR C677T increased the risk of HHcy by 2.97 times and 1.917 times, respectively. The genotypes of MTHFR A1298C, MTR A2756G, and MTRR A66G were not found to be correlated with the risk of HHcy. Conclusion MTHFR C677T CT and TT genotypes elevate the plasma Hcy level. The gene polymorphisms of MTHFR A1298C, MS A2756G and MTRR A66G are not risk factors for HHcy.

Clinical outcomes of drug-eluting balloons and drug-eluting stents for the treatment of in-stent restenosis / 中国组织工程研究

BACKGROUND: A series of studies have shown that both drug-eluting balloons and drug-eluting stents are better than the other treatments for drug-eluting in-stent restenosis lesions, but both of them have limitations. OBJECTIVE: To evaluate the long-term therapeutic efficacy of drug-eluting balloons and drug-eluting stents in the treatment of coronary in-stent restenosis. METHODS: A total of 63 patients with in-stent restenosis who received treatment in the First Affiliated Hospital of Inner Mongolia Medical University between January 2016 and December 2017 were included in this study. Among these patients, 32 patients received treatment with drug-eluting balloons (drug-eluting balloon group) and 31 patients were treated with drug-eluting stents (drug-eluting stent group). Coronary artery status before and immediately after surgery, coronary angiography 1 year after surgery, adverse events, and the risk factors of in-stent restenosis were recorded in both groups. The study was approved and supported by the Medical Ethics Committee of Inner Mongolia Medical University. RESULTS AND CONCLUSION: All patients were followed up for 1 year. There were no significant differences in minimum in-stent diameter, target vessel diameter, in-stent lumen loss in the late period between patients receiving treatment with drug-eluting balloons and patients receiving drug-eluting stents (all P > 0. 05). There were no significant differences in secondary restenosis rate (18% vs. 16%, P=0. 216), target lesion revascularization rate (6% vs. 6%, P=0. 513), and incidence of adverse events (9% vs. 10%, P=0. 334) between drug-eluting balloon and drug-eluting stent groups. There were two cases of gastrointestinal bleeding in the drug-eluting stent group, and no gastrointestinal bleeding occurred in the drug-eluting balloon group. Significant difference in gastrointestinal bleeding occurred between these two groups (P < 0. 01). Multi-factor analysis showed that smoking, diabetes and hyperhomocysteinemia are the risk factors of in-stent restenosis. These results suggest that both drug-eluting balloons and drug-eluting stents are the ideal treatments of in-stent restenosis. In clinical practice, individualized treatment options should be considered based on multiple factors.