scholarly journals AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures

Biomolecules ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. 1100
Author(s):  
Takeyori Saheki ◽  
Mitsuaki Moriyama ◽  
Aki Funahashi ◽  
Eishi Kuroda
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Causative Gene ◽  
Mitochondrial Transporter ◽  
Excess Amount ◽  
Therapeutic Procedures ◽  
Other Substances ◽  
History Of ◽  
Citrin Deficiency ◽  
Aspartate Glutamate Carrier

Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia. AGC2 or citrin deficiency shows their symptoms following sugar/carbohydrates intake excess and this disease is now known as a pan-ethnic disease. AGC2 (aspartate glutamate carrier 2) or citrin is a mitochondrial transporter which transports aspartate (Asp) from mitochondria to cytosol in exchange with glutamate (Glu) and H+. Asp is originally supplied from mitochondria to cytosol where it is necessary for synthesis of proteins, nucleotides, and urea. In cytosol, Asp can be synthesized from oxaloacetate and Glu by cytosolic Asp aminotransferase, but oxaloacetate formation is limited by the amount of NAD+. This means an increase in NADH causes suppression of Asp formation in the cytosol. Metabolism of carbohydrates and other substances which produce cytosolic NADH such as alcohol and glycerol suppress oxaloacetate formation. It is forced under citrin deficiency since citrin is a member of malate/Asp shuttle. In this review, we will describe history of identification of the SLC25A13 gene as the causative gene for adult-onset type II citrullinemia (CTLN2), a type of citrin deficiency, pathophysiology of citrin deficiency together with animal models and possible treatments for citrin deficiency newly developing.

scholarly journals Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia

Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 455-458
Author(s):  
Pingrun Chen ◽  
Xin Gao ◽  
Bin Chen ◽  
Yan Zhang
Keyword(s):  
Liver Transplantation ◽  
Liver Cirrhosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Chinese Patients ◽  
Type Ii ◽  
Adult Onset ◽  
Altered Consciousness ◽  
History Of ◽  
Citrin Deficiency

Abstract Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousness and refractory hyperammonaemia. The diagnosis was finally confirmed by gene analysis. The patient recovered after liver transplantation. It can be learned from this case that CD should be considered in patients with refractory hyperammonaemia and paroxysmal mental disorder without a history of liver disease.

scholarly journals Case report: An adult-onset type II citrin deficiency patient in the emergency department

2016 ◽  
Vol 12 (1) ◽  
pp. 410-414 ◽  
Author(s):  
LUJIA TANG ◽  
LIANG CHEN ◽  
HAIRONG WANG ◽  
LIHUA DAI ◽  
SHUMING PAN
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Type Ii ◽  
Adult Onset ◽  
Onset Type ◽  
Citrin Deficiency

scholarly journals Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency

Diseases ◽  
2020 ◽  
Vol 8 (1) ◽  
pp. 2
Author(s):  
Chalongchai Chalermwat ◽  
Thitipa Thosapornvichai ◽  
Laran T. Jensen ◽  
Duangrurdee Wattanasirichaigoon
Keyword(s):  
Liver Diseases ◽  
Model Organism ◽  
Type Ii ◽  
Wild Type ◽  
Over Expression ◽  
Fat Utilization ◽  
Functional Homolog ◽  
Citrin Deficiency ◽  
Aspartate Glutamate Carrier ◽  
Yeast Model

Citrin is a liver-specific mitochondrial aspartate–glutamate carrier encoded by SLC25A13. Citrin deficiency caused by SLC25A13 mutation results in carbohydrate toxicity, citrullinemia type II, and fatty liver diseases, the mechanisms of some of which remain unknown. Citrin shows a functional homolog in yeast aspartate-glutamate carrier (Agc1p) and agc1Δ yeasts are used as a model organism of citrin deficiency. Here, we found that agc1Δ yeasts decreased fat utilization, impaired NADH balance in peroxisomes, and decreased chronological lifespan. The activation of GPD1-mediated NAD+ regeneration in peroxisomes by GPD1 over-expression or activation of the malate–oxaloacetate NADH peroxisomal shuttle, by increasing flux in this NADH shuttle and over-expression of MDH3, resulted in lifespan extension of agc1Δ yeasts. In addition, over-expression of PEX34 restored longevity of agc1Δ yeasts as well as wild-type cells. The effect of PEX34-mediated longevity required the presence of the GPD1-mediated NADH peroxisomal shuttle, which was independent of the presence of the peroxisomal malate–oxaloacetate NADH shuttle and PEX34-induced peroxisome proliferation. These data confirm that impaired NAD+ regeneration in peroxisomes is a key defect in the yeast model of citrin deficiency, and enhancing peroxisome function or inducing NAD+ regeneration in peroxisomes is suggested for further study in patients’ hepatocytes.

Objectivization of vacuum-compression therapy effects on micro- and macrovascular perfusion in type 2 diabetic patients

2020 ◽  
Vol 65 (4) ◽  
pp. 469-476
Author(s):  
Jaroslav Prucha ◽  
Vladimir Socha ◽  
Lenka Hanakova ◽  
Andrej Lalis ◽  
Karel Hana
Keyword(s):  
Lower Limb ◽  
Compression Therapy ◽  
Neurological Complications ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Therapeutic Procedures ◽  
History Of ◽  
Injury Recovery ◽  
Type 2 Diabetic

AbstractThe present study aimed to evaluate the characteristic influence of physical therapeutic procedures of vacuum-compression therapy (VCT) on microvascular perfusion (MiP) and macrovascular perfusion (MaP) of the lower limb in diabetic patients. A sample of nine patients with a medical history of type 2 diabetes was used for the purpose of this study. Most of the subjects’ medical conditions included venous and neurological complications of the lower limb, whereas the rest of the subjects entered the treatment due to injury recovery or their phlebological disease. The PeriFlux System 5000 (Perimed, Sweden) diagnostic device was used to measure MiP. The MaP was evaluated based on the perfusion index (PI) using the Extremiter monitoring device (Embitron, Czech Republic) designed to perform VCT procedures. The study found that MiP and MaP increase as an effect of VCT procedures and at the same time PI clearly reflects the effect of the applied vacuum and compression phases, verifying the method’s vital influence on peripheral perfusion disorders.

The Natural History of Cerebral Dural Arteriovenous Fistulae

Neurosurgery ◽  
2012 ◽  
Vol 71 (3) ◽  
pp. 594-603 ◽  
Author(s):  
Bradley A. Gross ◽  
Rose Du
Keyword(s):  
Natural History ◽  
Significant Risk ◽  
Venous Drainage ◽  
Type I ◽  
Type Ii ◽  
Arteriovenous Fistulae ◽  
Type Iii ◽  
History Of ◽  
Venous Ectasia ◽  
Cortical Venous Drainage

Abstract BACKGROUND: Hemorrhage from cerebral dural arteriovenous fistulae (dAVF) is a considerable source of neurological morbidity and even mortality. OBJECTIVE: To evaluate the natural history of cerebral dAVF. METHODS: We reviewed our own cohort of 70 dAVF and incorporated results from the literature, synthesizing pooled hemorrhage rates and evaluating risk factors for 395 dAVF in 6 studies. RESULTS: No hemorrhages occurred during 409 lesion-years of follow-up of Borden type I dAVF; however, cortical venous drainage developed in 1.4%. Like type I dAVF, type II dAVF demonstrated a female predilection and were most commonly transverse-sigmoid or cavernous. Eighteen percent of type II dAVF presented with hemorrhage (95% confidence interval [CI]: 8%-36%), and the annual hemorrhage rate was 6% (95% CI: 0.1%-19%). Borden type III dAVF demonstrated a male predilection and were most commonly tentorial or petrosal. Thirty-four percent presented with hemorrhage (95% CI: 0.4%-49%), with an annual hemorrhage rate of 10% (95% CI: 4%-20%), increasing to 21% for those with venous ectasia (95% CI: 4%-66%). The hemorrhage rate decreased to 2% for asymptomatic or minimally symptomatic type II or III dAVF (95% CI: 0.2%-8%), and increased to 10% for those presenting with nonhemorrhagic neurological deficits (95% CI: 0.9%-41%) and to 46% for those presenting with hemorrhage (95% CI: 11%-130%). CONCLUSION: Venous ectasia is a significant risk factor for hemorrhage among dAVF with cortical venous drainage. In addition, those with hemorrhagic presentation, even compared with nonhemorrhagic neurological deficit presentation, as well as Borden type III dAVF compared with type II dAVF demonstrated a trend toward greater hemorrhage rates.

Anxiety disorders and substance abuse

2016 ◽  
Vol 33 (S1) ◽  
pp. S384-S384
Author(s):  
I. Prieto Sánchez ◽  
M.D.L.C. Ramírez Domínguez ◽  
S. Fernández León ◽  
M. Reina Domínguez ◽  
N. Garrido Torres ◽  
...  
Keyword(s):  
Anxiety Disorders ◽  
Dual Diagnosis ◽  
Behavioral Problems ◽  
Strong Association ◽  
Epidemiological Studies ◽  
Distinctive Features ◽  
Other Substances ◽  
History Of ◽  
Competing Interest ◽  
Substance Disorder

IntroductionPatients with anxiety disorders are more vulnerable to develop other comorbid conditions. In particular, large epidemiological studies show a strong association between different anxiety disorders and substance use disorders.ObjectivesTo show the prevalence of major anxiety disorders and the consumption of different substances. As well as the particular characteristics of this dual diagnosis and treatments that have proven more effective.MethodsExhaustive review of all the material published on this topic in the recent years.ConclusionsNearly 24% of patients with anxiety disorder suffer from a comorbid substance disorder use in their lifetime (17.9% diagnosis of alcohol abuse or dependence diagnosis and 11.9% of abuse or dependence on other drugs). Dual patients show a number of distinctive features, such as more frequency in males, family history of alcohol or other substances abuse and behavioral problems, early parental loss among others.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Salivary Pro-Inflammatory Markers and Smoking Status Influences the Treatment Effectiveness of Periodontal Disease Patients with Hypertension

2021 ◽  
Vol 18 (14) ◽  
pp. 7364
Author(s):  
Kun-Tsung Lee ◽  
Zhu-Ling Guo ◽  
Nai-Chia Teng ◽  
Kuei-Ling Christine Hsu ◽  
I-Hui Chen ◽  
...  
Keyword(s):  
Periodontal Disease ◽  
Recovery Rate ◽  
Inflammatory Markers ◽  
Treatment Effectiveness ◽  
Smoking Status ◽  
Periodontal Diseases ◽  
Probing Depth ◽  
Before And After ◽  
Therapeutic Procedures ◽  
History Of

Background: Hypertension and periodontal diseases share several risk factors. Inflammation biomarkers in saliva are related to hypertension and periodontal disease. The aim of this study was to explore the role of the salivary inflammatory biomarkers in the treatment effectiveness of patients with hypertension and periodontal disease. Methods: This observational study enrolled 160 subjects diagnosed with periodontitis, 40 of which had a history of hypertension. All subjects had completed scaling and root planning therapeutic procedures within four weeks. The clinical periodontal parameters (i.e., bleeding on probing, plaque control record (PCR), and probing depth (PD)) were evaluated before and after the treatment. Pro-inflammatory markers were determined using a commercial kit. Results: The recovery rate (PD 4–9 mm) in non-hypertensive subjects was significantly higher than in hypertensive subjects (60.47% vs. 52.60%, respectively; p = 0.04). All clinical parameters, excluding PCR, positively correlated with salivary IL-1β at baseline and after completing treatment. Our results showed that increased salivary IL-1β levels were positively associated with decreased PCR (β = −27.65 and p = 0.05) and PD recovery rate (β = −17.05 and p = 0.02) in hypertensive subjects. Conclusions: The present study sheds important light on the clinical use of salivary pro-inflammatory cytokines as valuable biomarkers for predicting the treatment effectiveness of patients suffering from hypertension and periodontitis.

Comparison of Wrist Motion and Grip Strength in a Normal Chinese and Caucasian Population

2016 ◽  
Vol 21 (03) ◽  
pp. 364-368 ◽  
Author(s):  
Yan Yan Kwok ◽  
Pak-Cheong Ho ◽  
Guy Feldman ◽  
Eugene Lo ◽  
Erik Wells ◽  
...  
Keyword(s):  
Grip Strength ◽  
Mixed Model ◽  
Wrist Joint ◽  
Asian Population ◽  
Caucasian Population ◽  
Relative Contribution ◽  
Therapeutic Procedures ◽  
History Of ◽  
Joint Flexion ◽  
And Gender

Background: Anatomical and functional differences between Asian and Caucasian populations have been described and are important in treatment of wrist pathology. The purpose of this study was to establish and compare normal values in an Asian and Caucasian population. We hypothesized that a normal Asian population will have greater wrist ROM and reduced grip- strength when compared to a normal Caucasian population. Methods: One hundred and–seventy-one normal Asian and 156 normal Caucasian wrists were evaluated. We excluded wrists with current or a history of wrist pathology including past surgery, injury or congenital malformation. We collected demographic information regarding occupation, body mass index (BMI), and previous wrist pathology. The wrist measurements included: wrist extension, flexion, radial, ulnar deviation, and grip strength. Wrists were also evaluated for a mid-carpal clunk, and scaphoid shift test. Mixed models accounted for evaluation of both hands in the same individual and for the relative contribution of different factors to the outcome measures of ROM and grip- strength. Results: The two groups differed in height, BMI and the distribution of occupation. The Asian group had more flexion, less extension and similar radial/ulnar wrist deviation when compared to the Caucasian group. Ethnicity was a significant predictor of wrist joint flexion and extension significantly predicting grip- strength. Age was associated with ROM while occupation, hand side and gender were not significant factors in the mixed model. Conclusions: We found discrete differences between values in the two populations. More study of anatomical morphological patterns may explain the reason for variations in motion and grip- strength. The differences identified in this study between Asian and Caucasian populations should be taken into account when evaluating outcomes of wrist therapeutic procedures and rehabilitation in different communities.

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