scholarly journals S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model

Antioxidants ◽  
2021 ◽  
Vol 10 (9) ◽  
pp. 1424
Author(s):  
Miguel López de Heredia ◽  
Lourdes Muñoz ◽  
Ciriaco Carru ◽  
Salvatore Sotgia ◽  
Angelo Zinellu ◽  
...  
Keyword(s):  
Mouse Model ◽  
Stone Formation ◽  
Imaging Techniques ◽  
Surgical Interventions ◽  
Urinary Levels ◽  
Cystine Stone ◽  
Cystine Stones ◽  
Functional Deterioration ◽  
Urine Levels ◽  
Main Clinical Manifestation

Cystinuria, a rare inherited aminoaciduria condition, is characterized by the hyperexcretion of cystine, ornithine, lysine, and arginine. Its main clinical manifestation is cystine stone formation in the urinary tract, being responsible for 1–2% total and 6–8% pediatric lithiasis. Cystinuria patients suffer from recurrent lithiasic episodes that might end in surgical interventions, progressive renal functional deterioration, and kidney loss. Cystinuria is monitored for the presence of urinary cystine stones by crystalluria, imaging techniques or urinary cystine capacity; all with limited predicting capabilities. We analyzed blood and urine levels of the natural antioxidant L-ergothioneine in a Type B cystinuria mouse model, and urine levels of its metabolic product S-methyl-L-ergothioneine, in both male and female mice at two different ages and with different lithiasic phenotype. Urinary levels of S-methyl-L-ergothioneine showed differences related to age, gender and lithiasic phenotype. Once normalized by L-ergothioneine to account for interindividual differences, the S-methyl-L-ergothioneine to L-ergothioneine urinary ratio discriminated between cystine lithiasic phenotypes. Urine S-methyl-L-ergothioneine to L-ergothioneine ratio could be easily determined in urine and, as being capable of discriminating between cystine lithiasis phenotypes, it could be used as a lithiasis biomarker in cystinuria patient management.

MP12-12 ?-LIPOIC ACID SUPPRESSES CYSTINE STONE FORMATION IN A GENETIC MOUSE MODEL OF CYSTINURIA

2017 ◽  
Vol 197 (4S) ◽  
Author(s):  
Tiffany Zee ◽  
Neelanjan Bose ◽  
Jarcy Zee ◽  
Jennifer Beck ◽  
See Yang ◽  
...  
Keyword(s):  
Mouse Model ◽  
Lipoic Acid ◽  
Stone Formation ◽  
Genetic Mouse Model ◽  
Cystine Stone

scholarly journals The Impact of Diet on Urinary Risk Factors for Cystine Stone Formation

Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 528
Author(s):  
Roswitha Siener ◽  
Norman Bitterlich ◽  
Hubert Birwé ◽  
Albrecht Hesse
Keyword(s):  
Risk Factors ◽  
Dietary Habits ◽  
Sodium Intake ◽  
Stone Formation ◽  
Dietary Treatment ◽  
Vegetarian Diet ◽  
Dietary Sodium ◽  
Urine Ph ◽  
Cystine Stone ◽  
The Impact

Despite the importance of dietary management of cystinuria, data on the contribution of diet to urinary risk factors for cystine stone formation are limited. Studies on the physiological effects of diet on urinary cystine and cysteine excretion are lacking. Accordingly, 10 healthy men received three standardized diets for a period of five days each and collected daily 24 h urine. The Western-type diet (WD; 95 g/day protein) corresponded to usual dietary habits, whereas the mixed diet (MD; 65 g/day protein) and lacto-ovo-vegetarian diet (VD; 65 g/day protein) were calculated according to dietary reference intakes. With intake of the VD, urinary cystine and cysteine excretion decreased by 22 and 15%, respectively, compared to the WD, although the differences were not statistically significant. Urine pH was significantly highest on the VD. Regression analysis showed that urinary phosphate was significantly associated with cystine excretion, while urinary sulfate was a predictor of cysteine excretion. Neither urinary cystine nor cysteine excretion was affected by dietary sodium intake. A lacto-ovo-vegetarian diet is particularly suitable for the dietary treatment of cystinuria, since the additional alkali load may reduce the amount of required alkalizing agents.

scholarly journals The Long-Term Follow-Up of Patients with Cystine Stones: A Single-Center Experience for 13 Years

2021 ◽  
Vol 10 (7) ◽  
pp. 1336
Author(s):  
Toshifumi Takahashi ◽  
Shinya Somiya ◽  
Katsuhiro Ito ◽  
Toru Kanno ◽  
Yoshihito Higashi ◽  
...  
Keyword(s):  
Surgical Intervention ◽  
Median Number ◽  
Small Sample ◽  
Age At Diagnosis ◽  
Surgical Interventions ◽  
Significant Difference ◽  
Long Term Follow Up ◽  
Cystine Stones

Introduction: Cystine stone development is relatively uncommon among patients with urolithiasis, and most studies have reported only on small sample sizes and short follow-up periods. We evaluated clinical courses and treatment outcomes of patients with cystine stones with long-term follow-up at our center. Methods: We retrospectively analyzed 22 patients diagnosed with cystine stones between January 1989 and May 2019. Results: The median follow-up was 160 (range 6–340) months, and the median patient age at diagnosis was 46 (range 12–82) years. All patients underwent surgical interventions at the first visit (4 extracorporeal shockwave lithotripsy, 5 ureteroscopy, and 13 percutaneous nephrolithotripsy). The median number of stone events and surgical interventions per year was 0.45 (range 0–2.6) and 0.19 (range 0–1.3) after initial surgical intervention. The median time to stone events and surgical intervention was 2 years and 3.25 years, respectively. There was a significant difference in time to stone events and second surgical intervention when patients were divided at 50 years of age at diagnosis (p = 0.02, 0.04, respectively). Conclusions: Only age at a diagnosis under 50 was significantly associated with recurrent stone events and intervention. Adequate follow-up and treatment are needed to manage patients with cystine stones safely.

scholarly journals The effect of urinary tract calculosis to levels of low molecular inhibitors of crystallization in the urine

2006 ◽  
Vol 134 (1-2) ◽  
pp. 40-43
Author(s):  
Dragica Milenkovic ◽  
Natasa Lalic
Keyword(s):  
Urinary Tract ◽  
Shock Waves ◽  
Stone Formation ◽  
Upper Urinary Tract ◽  
Therapeutic Procedure ◽  
Residual Stone ◽  
Extracorporeal Shock Waves ◽  
Urinary Levels ◽  
Urinary Tract Stones ◽  
Pre Treatment

The incidence of urinary tract calculosis continuously progresses. The triggering event in the process of stone formation is decreased urinary level of crystallizing inhibitors. The aim of our study was to investigate whether the existing stone or applied therapeutic procedure - extracorporeal shock waves lithotripsy (ESWL) - has effect to urinary levels of Mg, citrate and pyrophosphate. Study included 128 patients with the upper urinary tract stones. ESWL using the Lithostar (Siemens) device was used as a mode of treatment. Out of all patients, 76 (59%) were free of stone particles before 1 month, while 52 (41%) had residual stone fragments even 3 months after ESWL. Mg, citrate and pyrophosphate were measured in 24hurine specimens: before, between days 2 and 3, as well as 1 and 3 months after ESWL. The analysis of the results revealed that stone itself had no effect on urinary crystallizing inhibitors. Detected increased urinary levels of Mg, citrate and pyrophosphate after ESWL, compared with pre-treatment values, could be attributed to applied therapeutic procedure.

Clinical course and cystine stone formation during tiopronin treatment

1995 ◽  
Vol 23 (2) ◽  
pp. 111-117 ◽  
Author(s):  
�. Lindell ◽  
T. Denneberg ◽  
E. Hellgren ◽  
J. -O. Jeppsson ◽  
H. -G. Tiselius
Keyword(s):  
Clinical Course ◽  
Stone Formation ◽  
Cystine Stone

Language Mapping with Magnetoencephalography

2020 ◽  
pp. 247-262
Author(s):  
Panagiotis G. Simos ◽  
Susan M. Bowyer ◽  
Kyousuke Kamada
Keyword(s):  
Imaging Techniques ◽  
Target Function ◽  
Brain Regions ◽  
Language Mapping ◽  
Surgical Interventions ◽  
Cortical Organization ◽  
Language Functions ◽  
Normal Populations ◽  
Motor Cortex Mapping ◽  
The Brain

This chapter explores the applications of magnetoencephalography (MEG) to the study of the brain mechanisms for language functions. Language mapping with MEG has proved helpful in presurgical estimates of the location and extent of language-related cortex as well as in the intraoperative identification of these cortical patches. In fact, in several neurosurgical centers around the world, such assessments are part of the protocol of surgical interventions, especially in the case of epilepsy. Moreover, MEG alone or in combination with other imaging methods, such as functional magnetic resonance imaging (fMRI) and transcranial magnetic stimulation (TMS), is extensively used for the testing of alternative models of cortical organization for language in normal populations. However, applications of MEG to language mapping face most of the limitations that characterize brain imaging techniques relying on hemodynamic measures. Perhaps the most fundamental of these limitations concerns the degree of specificity of results: Activation profiles feature brain regions that may not be indispensable for a particular target function. This problem is particularly serious in the case of language mapping and to a lesser degree in motor cortex mapping.

scholarly journals Primary Omental Torsion in an Old Woman: Imaging Techniques Can Prevent Unnecessary Surgical Interventions

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mohhamad-Hadi Saeed Modaghegh ◽  
Reza Jafarzadeh
Keyword(s):  
Computed Tomography ◽  
Conservative Management ◽  
Clinical Presentation ◽  
Imaging Techniques ◽  
Flank Pain ◽  
Greater Omentum ◽  
Surgical Interventions ◽  
Omental Torsion ◽  
Proper Diagnosis ◽  
Primary Torsion

Torsion and/or infarction of the greater omentum are rare but well-recognized clinical situations which present as an acute abdomen. The etiology is unknown and speculative. In most cases, the pathology is right sided and clinical presentation consists of an acute or subacute flank pain with mild peritonism usually evoking appendicitis or cholecystitis. Nevertheless, knowledge concerning these two problems can help the surgeon in proper diagnosis and treatment. Since the first report on primary torsion by Eitel in 1899, a few hundred more have been reported and some collective reviews published to date. Recently, ultra sonography and computed tomography have proved to provide sufficiently typical, consistent, and well-recognizable features to avoid unnecessary surgery. In this study, we will present a case diagnosed as primary omental torsion based on computed tomography, which underwent successful conservative management.

Cystine stones

2018 ◽  
Author(s):  
Michel Daudon ◽  
Paul Jungers
Keyword(s):  
Amino Acids ◽  
Sodium Intake ◽  
Stone Formation ◽  
Preventive Therapy ◽  
Potassium Citrate ◽  
Close Monitoring ◽  
Urine Ph ◽  
Flexible Ureterorenoscopy ◽  
Equal Distribution ◽  
Cystine Stones

Cystinuria, an autosomal recessive disease (estimated at 1:7000 births worldwide), results from the defective reabsorption of cystine and dibasic amino acids (also ornithine, arginine, lysine, COAL) by epithelial cells of renal proximal tubules, leading to an abnormally high urinary excretion of these amino acids. Due to the poor solubility of cystine at the usual urine pH, formation of cystine crystals and stones ensues. Incidence of homozygotes is estimated at 1 in 7000 births worldwide, but is lower in European countries and much higher in populations with frequent consanguinity. Cystine stones represent 1–2% of all stones in adults and 5–8% in paediatric patients, with an equal distribution between males and females.Cystinuria is caused by inactivating mutations in the gene SLC3A1 or SLC7A9, both encoding proteins contributing to the function of the heterodimeric transport system of cystine.Cystine nephrolithiasis may present in infants, most frequently in adolescents or young adults, sometimes later. Cystine calculi are weakly radio-opaque. Stone analysis using infrared spectroscopy (or X-ray diffraction) allows immediate and accurate diagnosis. Urinary amino acid chromatography quantifies urinary cystine excretion, needed to define the therapeutic strategy.Urological treatment of cystine stones currently uses extracorporeal stone wave lithotripsy or flexible ureterorenoscopy with Holmium laser, that is, minimally invasive techniques. However, as cystine stones are highly recurrent, preventive therapy is essential.Medical treatment combines reduced methionine and sodium intake, to lower cystine excretion; hyperdiuresis (> 3 L/day) to reduce cystine concentration; and active alkalinization preferably using potassium citrate (40–80 mEq/day) to increase cystine solubility by rising urine pH up to 7.5–8. If these measures are insufficient to prevent recurrent stone formation, a thiol derivative (D-penicillamine or tiopronin), which converts cystine into a more soluble disulphide, should be added. Close monitoring and adherence of the patient to the therapeutic programme are needed to ensure life-long compliance, the key for successful prevention in the long term.

scholarly journals Molecular features assisting in diagnosis, surgery, and treatment decision making in low-grade gliomas

2015 ◽  
Vol 38 (3) ◽  
pp. E2 ◽  
Author(s):  
Ricky Chen ◽  
Vijay M. Ravindra ◽  
Adam L. Cohen ◽  
Randy L. Jensen ◽  
Karen L. Salzman ◽  
...  
Keyword(s):  
Imaging Techniques ◽  
Molecular Genetic ◽  
Treatment Decision ◽  
Resonance Spectroscopy ◽  
Low Grade ◽  
Isocitrate Dehydrogenase 1 ◽  
Genetic Event ◽  
Surgical Interventions ◽  
Low Grade Gliomas ◽  
Molecular Features

The preferred management of suspected low-grade gliomas (LGGs) has been disputed, and the implications of molecular changes for medical and surgical management of LGGs are important to consider. Current strategies that make use of molecular markers and imaging techniques and therapeutic considerations offer additional options for management of LGGs. Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes suggest a role for this abnormal metabolic pathway in the pathogenesis and progression of these primary brain tumors. Use of magnetic resonance spectroscopy can provide preoperative detection of IDH-mutated gliomas and affect surgical planning. In addition, IDH1 and IDH2 mutation status may have an effect on surgical resectability of gliomas. The IDH-mutated tumors exhibit better prognosis throughout every grade of glioma, and mutation may be an early genetic event, preceding lineage-specific secondary and tertiary alterations that transform LGGs into secondary glioblastomas. The O6-methylguanine-DNAmethyltransferase (MGMT) promoter methylation and 1p19q codeletion status can predict sensitivity to chemotherapy and radiation in low- and intermediate-grade gliomas. Thus, these recent advances, which have led to a better understanding of how molecular, genetic, and epigenetic alterations influence the pathogenicity of the different histological grades of gliomas, can lead to better prognostication and may lead to specific targeted surgical interventions and medical therapies.

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