scholarly journals Pitfalls in measuring plasma cholesterol in the Smith–Lemli–Opitz syndrome

1997 ◽  
Vol 43 (1) ◽  
pp. 129-133 ◽  
Author(s):  
Petr E Jira ◽  
Jan G N de Jong ◽  
Fokje S M Janssen-Zijlstra ◽  
Udo Wendel ◽  
Ron A Wevers
Keyword(s):  
Gas Chromatography ◽  
Plasma Cholesterol ◽  
Cholesterol Oxidase ◽  
Correct Diagnosis ◽  
Severe Form ◽  
Cholesterol Concentration ◽  
Quantitative Results ◽  
Opitz Syndrome ◽  
High Concentrations

Abstract Correct quantitative results for plasma cholesterol, 7-dehydrocholesterol (7-DHC), and 8-dehydrocholesterol (8-DHC) are invaluable for making the correct diagnosis in patients with the Smith–Lemli–Opitz syndrome (SLO) and for biochemical monitoring of these patients during therapy. The enzymatic method for cholesterol measurement based on cholesterol oxidase gives falsely high values for plasma cholesterol in samples from patients with SLO. Both 7-DHC and 8-DHC contribute substantially to the test result, given that they are accepted substrates of cholesterol oxidase. All cholesterol methods making use of this enzyme are expected to give unreliable results with plasma samples from SLO patients. Cholesterol values found with these methods may be low-normal in individual cases with SLO. Therefore, other techniques for measuring cholesterol, 7-DHC, and 8-DHC, e.g., gas chromatography, should be used for diagnosing these patients and for follow-up during therapy. However, a normal value for plasma cholesterol, as obtained by gas chromatography, does not exclude SLO. The diagnosis should always be confirmed or excluded by testing for the presence of high concentrations of 7-DHC and 8-DHC in plasma. We found that one patient with a severe form of the disease had a plasma cholesterol concentration of 20 μmol/L—to our knowledge, the lowest value ever recorded in a human being.

scholarly journals Healing below the ankle is possible in patients with diabetes mellitus and a forefoot gangrene

2021 ◽  
Vol 9 ◽  
pp. 205031212110291
Author(s):  
Targ Elgzyri ◽  
Jan Apelqvist ◽  
Eero Lindholm ◽  
Hedvig Örneholm ◽  
Magdalena Annersten Gershater
Keyword(s):  
Diabetic Foot ◽  
Clinical Characteristics ◽  
Foot Ulcer ◽  
Major Amputation ◽  
Severe Form ◽  
Foot Ulcers ◽  
Vascular Intervention ◽  
Co Morbidity ◽  
Patients With Diabetes

Background: Forefoot gangrene in patients with diabetes is a severe form of foot ulcers with risk of progress and major amputation. No large cohort studies have examined clinical characteristics and outcome of forefoot gangrene in patients with diabetes. The aim was to examine clinical characteristics and outcome of forefoot gangrene in patients with diabetes admitted to a diabetic foot centre. Methods: Patients with diabetes and foot ulcer consecutively presenting were included if they had forefoot gangrene (Wagner grade 4) at initial visit or developed forefoot gangrene during follow-up at diabetic foot centre. Patients were prospectively followed up until final outcome, either healing or death. The median follow-up period until healing was 41 (3–234) weeks. Results: Four hundred and seventy-six patients were included. The median age was 73 (35–95) years and 63% were males. Of the patients, 82% had cardiovascular disease and 16% had diabetic nephropathy. Vascular intervention was performed in 64%. Fifty-one patients (17% of surviving patients) healed after auto-amputation, 150 after minor amputation (48% of surviving patients), 103 had major amputation (33% of surviving patients) and 162 patients deceased unhealed. Ten patients were lost at follow-up. The median time to healing for all surviving patients was 41 (3–234) weeks; for auto-amputated, 48 (10–228) weeks; for minor amputated, 48 (6–234) weeks; and for major amputation, 32 (3–116) weeks. Conclusion: Healing without major amputation is possible in a large proportion of patients with diabetes and forefoot gangrene, despite these patients being elderly and with extensive co-morbidity.

Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol

2000 ◽  
Vol 23 (6) ◽  
pp. 638-639 ◽  
Author(s):  
V. Bzdúch ◽  
D. Behúlová ◽  
L. Kozák ◽  
J. Škodová ◽  
E. Véghová ◽  
...  
Keyword(s):  
Plasma Cholesterol ◽  
Opitz Syndrome

scholarly journals Urinary Carnosinase-1 Excretion is Associated with Urinary Carnosine Depletion and Risk of Graft Failure in Kidney Transplant Recipients: Results of the TransplantLines Cohort Study

Antioxidants ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1102
Author(s):  
Angelica Rodriguez-Niño ◽  
Diego O. Pastene ◽  
Adrian Post ◽  
M. Yusof Said ◽  
Antonio W. Gomes-Neto ◽  
...  
Keyword(s):  
Kidney Transplant ◽  
Graft Failure ◽  
Cox Regression ◽  
Carbonyl Stress ◽  
Transplant Recipients ◽  
Kidney Transplant Recipients ◽  
Increased Risk ◽  
High Concentrations ◽  
Kidney Function Decline

Carnosine affords protection against oxidative and carbonyl stress, yet high concentrations of the carnosinase-1 enzyme may limit this. We recently reported that high urinary carnosinase-1 is associated with kidney function decline and albuminuria in patients with chronic kidney disease. We prospectively investigated whether urinary carnosinase-1 is associated with a high risk for development of late graft failure in kidney transplant recipients (KTRs). Carnosine and carnosinase-1 were measured in 24 h urine in a longitudinal cohort of 703 stable KTRs and 257 healthy controls. Cox regression was used to analyze the prospective data. Urinary carnosine excretions were significantly decreased in KTRs (26.5 [IQR 21.4–33.3] µmol/24 h versus 34.8 [IQR 25.6–46.8] µmol/24 h; p < 0.001). In KTRs, high urinary carnosinase-1 concentrations were associated with increased risk of undetectable urinary carnosine (OR 1.24, 95%CI [1.06–1.45]; p = 0.007). During median follow-up for 5.3 [4.5–6.0] years, 84 (12%) KTRs developed graft failure. In Cox regression analyses, high urinary carnosinase-1 excretions were associated with increased risk of graft failure (HR 1.73, 95%CI [1.44–2.08]; p < 0.001) independent of potential confounders. Since urinary carnosine is depleted and urinary carnosinase-1 imparts a higher risk for graft failure in KTRs, future studies determining the potential of carnosine supplementation in these patients are warranted.

Performance of commercially-available cholesterol self-tests

2021 ◽  
pp. 000456322199239
Author(s):  
Steef Kurstjens ◽  
Eugenie Gemen ◽  
Selina Walk ◽  
Tjin Njo ◽  
Johannes Krabbe ◽  
...  
Keyword(s):  
High Density Lipoprotein ◽  
Diagnostic Performance ◽  
Plasma Cholesterol ◽  
Density Lipoprotein ◽  
High Density ◽  
Cholesterol Concentration ◽  
Limited Information ◽  
Plasma Cholesterol Concentration ◽  
Lipid Panel ◽  
Better Regulation

Background Hypercholesterolemia (plasma cholesterol concentration ≥5.2 mmol/L) is a risk factor for cardiovascular disease and stroke. Many different cholesterol self-tests are readily available at general stores, pharmacies and web shops. However, there is limited information on their analytical and diagnostic performance. Methods We included 62 adult patients who required a lipid panel measurement (cholesterol, high-density lipoprotein (HDL), triglycerides and LDLcalc) for routine care. The performance of five different cholesterol self-tests, three quantitative meters ( Roche Accutrend Plus, Mission 3-in-1 and Qucare) and two semi-quantitative strip tests ( Veroval and Mylan MyTest), was assessed according to the manufacturers’ protocol. Results The average plasma cholesterol concentration was 5.2 ± 1.2 mmol/L. The mean absolute relative difference (MARD) of the five cholesterol self-tests ranged from 6 ± 5% ( Accutrend Plus) to 20 ± 12% ( Mylan Mytest). The Accutrend Plus cholesterol meter showed the best diagnostic performance with a 92% sensitivity and 89% specificity. The Qucare and Mission 3-in-1 are able to measure HDL concentrations and can thus provide a cholesterol:HDL ratio. The Passing-Bablok regression analyses for the ratio showed poor performance in both self-tests ( Mission 3-in-1: y = 1.62x–1.20; Qucare: y = 0.61x + 1.75). The Accutrend Plus is unable to measure the plasma high-density lipoprotein concentration. Conclusions/interpretation: The Accutrend Plus cholesterol meter (Roche) had excellent diagnostic and analytic performance. However, several of the commercially-available self-tests had considerably poor accuracy and diagnostic performance and therefore do not meet the required qualifications, potentially leading to erroneous results. Better regulation, standardization and harmonization of cholesterol self-tests is warranted.

Juvenile Granulosa Cell Tumors of the Ovary

2020 ◽  
Vol 154 (5) ◽  
pp. 635-644
Author(s):  
Yuhong Ye ◽  
Chengyu Lv ◽  
Songhua Xu ◽  
Yupeng Chen ◽  
Ru Qian ◽  
...  
Keyword(s):  
Granulosa Cell ◽  
Correct Diagnosis ◽  
Pelvic Mass ◽  
Stage Iv ◽  
Abdominal Distension ◽  
Granulosa Cell Tumors ◽  
Pathologic Features ◽  
Stage Iv Disease ◽  
Sclerosing Stromal Tumor

Abstract Objective To explore the clinical and pathologic features of ovarian juvenile granulosa cell tumors (JGCTs). Methods Clinical data, histopathologic observations, immunohistochemical results, FOXL2 mutation status, and follow-up information of 7 JGCT cases were studied. Results The patients most commonly presented with abdominal distension and pain (5 cases), followed by precocious puberty (1 case) and a pelvic mass (1 case). Six patients had stage I disease, and 1 had stage IV disease. The microscopic examinations typically showed lobular growth punctuated by variably sized and shaped follicles. Rare features included a reticular-cystic appearance mimicking a yolk sac tumor (2 cases), a lobular appearance similar to a sclerosing stromal tumor (1 case), strands and cords (1 case), pseudopapillary appearance (2 cases), spindle cell appearance (1 case), microcystic appearance (1 case), hobnail cells (1 case), and rhabdomyoid cells (1 case). No FOXL2 mutation was encountered. After a median follow-up of 53 months, only 1 patient with a strongly diffuse TP53-positive tumor died of the disease, and 2 successfully had babies. Conclusions JGCT is a rare neoplasm with a wide morphologic spectrum and is easily confused with other tumors. Familiarity with the characteristics, rare atypical appearances, and immunohistochemical results may aid in obtaining a correct diagnosis.

scholarly journals Effect of dietary cholesterol on plasma cholesterol concentration in subjects following reduced fat, high fibre diet.

BMJ ◽  
1987 ◽  
Vol 294 (6568) ◽  
pp. 333-336 ◽  
Author(s):  
J Edington ◽  
M Geekie ◽  
R Carter ◽  
L Benfield ◽  
K Fisher ◽  
...  
Keyword(s):  
Plasma Cholesterol ◽  
Dietary Cholesterol ◽  
Cholesterol Concentration ◽  
Plasma Cholesterol Concentration ◽  
High Fibre Diet ◽  
Reduced Fat ◽  
Fibre Diet ◽  
High Fibre

scholarly journals Health effects of vegetarian and vegan diets

2006 ◽  
Vol 65 (1) ◽  
pp. 35-41 ◽  
Author(s):  
Timothy J. Key ◽  
Paul N. Appleby ◽  
Magdalena S. Rosell
Keyword(s):  
Fatty Acids ◽  
Health Effects ◽  
Fruits And Vegetables ◽  
Plasma Cholesterol ◽  
Cholesterol Concentration ◽  
Vitamin B ◽  
Cross Sectional ◽  
Western Countries ◽  
Vegetarian Diets ◽  
Long Chain

Vegetarian diets do not contain meat, poultry or fish; vegan diets further exclude dairy products and eggs. Vegetarian and vegan diets can vary widely, but the empirical evidence largely relates to the nutritional content and health effects of the average diet of well-educated vegetarians living in Western countries, together with some information on vegetarians in non-Western countries. In general, vegetarian diets provide relatively large amounts of cereals, pulses, nuts, fruits and vegetables. In terms of nutrients, vegetarian diets are usually rich in carbohydrates, n−6 fatty acids, dietary fibre, carotenoids, folic acid, vitamin C, vitamin E and Mg, and relatively low in protein, saturated fat, long-chain n−3 fatty acids, retinol, vitamin B12 and Zn; vegans may have particularly low intakes of vitamin B12 and low intakes of Ca. Cross-sectional studies of vegetarians and vegans have shown that on average they have a relatively low BMI and a low plasma cholesterol concentration; recent studies have also shown higher plasma homocysteine concentrations than in non-vegetarians. Cohort studies of vegetarians have shown a moderate reduction in mortality from IHD but little difference in other major causes of death or all-cause mortality in comparison with health-conscious non-vegetarians from the same population. Studies of cancer have not shown clear differences in cancer rates between vegetarians and non-vegetarians. More data are needed, particularly on the health of vegans and on the possible impacts on health of low intakes of long-chain n−3 fatty acids and vitamin B12. Overall, the data suggest that the health of Western vegetarians is good and similar to that of comparable non-vegetarians.

scholarly journals Uncommon bilateral maxillary exostosis: case report

2020 ◽  
Vol 68 ◽  
Author(s):  
Ana Luiza Lataliza COSTA ◽  
Ana Luísa Machado BATISTA ◽  
Sara Ferreira dos Santos COSTA ◽  
Juliana Vilela BASTOS ◽  
Roselaine Moreira Coelho MILAGRES ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Oral Cavity ◽  
Clinical Characteristics ◽  
Genetic Factors ◽  
Correct Diagnosis ◽  
Cone Beam ◽  
Panoramic Radiographs ◽  
Dental Radiographs

ABSTRACT Exostoses or hyperostoses are benign bony outgrowths originating from the cortical bone and depend on their location for a more precise designation. The most common types found in the oral cavity are the torus palatinus and the torus mandibularis. Buccal and palatal exostoses are located along the buccal aspect of the maxilla and/or the mandible (commonly in the premolar and molar areas) and on the palatal aspect of the maxilla (usually in the tuberosity area), respectively. The etiology of exostoses still hasn’t been enlightened but an interaction between environmental and genetic factors is accredited. They are usually asymptomatic, unless the mucosa becomes ulcerated. The frequency of exostoses increases with age, having their biggest prevalence from 60 years old, being more common in men and suffering ethnic influences. A thorough evaluation is important for the correct diagnosis since other lesions have similar clinical characteristics to the exostoses such as osteomas. The majority of exostoses are diagnosed clinically along with radiographic interpretations, making the biopsy dispensable and the treatment is usually unnecessary. The aim of this article was to describe a case report of bilateral maxillary exostosis, unusual, in a female patient. If an excessive amount of bone is present the exostoses may exhibit a relative radiopacity on dental radiographs. Initially, periapical and panoramic radiographs were performed to evaluate the alterations. Due to the size of the exostoses a concomitant Cone Beam Computed Tomography was performed to confirm the diagnosis. The patient is in follow-up.

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