SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening.

We describe a case of a 21 years old woman affected by Citrullinemia type 1- Arginosuccinate Synthase deficiency (ASSD)-who underwent a SARS CoV2 infection during the first phase of pandemic burst in Italy. She had no symptoms of infection nor a metabolic crisis. After recovery from SARS CoV2, she experienced a worsening in their epilepsy despite therapy, with one/two crisis a week.

Metabolic alterations in spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (SBMA) is a rare, X-linked neuromuscular disease characterised by lower motor neurons degeneration, slowly progressive myopathy and multisystem involvement. SBMA is caused by trinucleotide repeat expansion in the first exon of the androgen receptor (AR) gene on chromosome X that encodes a polyglutamine (polyQ) tract in the AR protein. Disease onset occurs between 30-60 years of age with easy fatigability, muscle cramps, and weakness in the limbs. In addition to neuromuscular involvement, in SBMA phenotype, many non-neural manifestations are present. Recently, some studies have reported a high prevalence of metabolic and liver disorders in patients with SBMA. Particularly, fatty liver and insulin resistance (IR) have been found in many SBMA patients. The alteration of AR function and the androgen insensitivity can be involved in both fatty liver and IR. In turn, IR and liver alterations can influence neuromuscular damage through different mechanisms. These data lead to consider SBMA as a metabolic as well as a neuromuscular disease. The mechanism of metabolic alterations, their link with the neuromuscular damage, the effects on the course of disease and their treatment will have to be yet fully clarified.

Sugar cane policosanol failed to lower plasma cholesterol in primitive, diet-resistant hypercholesterolaemia: a double blind, controlled study.

Previous clinical studies have shown that oral administration of sugar cane policosanol (SCP) reduces plasma total cholesterol and low-density lipoprotein cholesterol levels. A double blind, randomized, placebo controlled trial was performed in hypercholesterolaemic, diet-resistant patients. Seventy patients meeting the selection criteria were enrolled. Each subject was treated with policosanol 10 mg/d in addition to a dietetic regimen for 8 weeks. At the start and at the end of the study body weight, body mass index (BMI), total cholesterol, HDL-cholesterol, LDL-cholesterol and triglycerides (TG) plasma levels were measured. Thirty-three subjects in the policosanol and Thirty-one subjects in the control group completed the study. During the study body mass index, total cholesterol, HDL-cholesterol, LDL-cholesterol and triglycerides plasma levels did not change significantly within and between groups. In conclusion, sugar cane policosanol at a dose of 10mg/d showed no lipid lowering effects in subjects with primitive, diet-resistant hypercholesterolaemia.

Liquorice-induced hypokalaemia and water retention in the absence of hypertension.

This is a case report of a woman who showed headache, weakness, upper-limb edema and a generalized convulsive seizure after chronic ingestion of liquorice. She was taking oral contraceptives which can predispose to liquorice toxicity. Plasma potassium, aldosterone, renin activity and albumin were below the normal level. The abdominal echography and computerized tomography scan demonstrated a perihepatic and perisplenic thin liquid layer with liquid collection in the pelvis. The bioelectrical impedance suggested a hyperhydration state. After stopping the liquorice, the laboratory and bioelectrical values normalized and clinical upper-limb edema and the liquid in the abdomen disappeared in a few days.

Effect of sugar cane policosanol on lipid profile in primary hypercholesterolemia.

Policosanol, a mixture of long-chain aliphatic primary alcohols, is used as a cholesterol-lowering supplement. The effectiveness of policosanol is still questionable. To determine the lipoprotein-lowering effects of Cuban sugar cane-derived policosanol a double-blind, randomized, placebo controlled trial was performed. Sixty-eight primary hypercholesterolemic subjects were enrolled and randomly assigned to the treatment or to the control group. The first group received sugar cane policosanol 20 mg daily for 8 weeks, while the control group was treated with placebo. All subjects followed a normocaloric diet. The content of policosanol in the supplement tablets was assessed by gas chromatography. A total of 32 subjects in the policosanol group and 31 subjects in the control group completed the study. Body mass index, total cholesterol, HDL-cholesterol, LDL-cholesterol and triglyceride plasma levels did not change significantly in either group. In conclusion, sugar cane policosanol at doses of 20 mg daily showed no lipid lowering effects in subjects with primary hypercholesterolemia.

Effect of licorice on the reduction of body fat mass in healthy subjects.

The history of licorice, as a medicinal plant, is very old and has been used in many societies throughout the millennia. The active principle, glycyrrhetinic acid, is responsible for sodium retention and hypertension, which is the most common side-effect. We show an effect of licorice in reducing body fat mass. We studied 15 normal-weight subjects (7 males, age 22-26 yr, and 8 females, age 21-26 yr), who consumed for 2 months 3.5 g a day of a commercial preparation of licorice. Body fat mass (BFM, expressed as percentage of total body weight, by skinfold thickness and by bioelectrical impedance analysis, BIA) and extracellular water (ECW, percentage of total body water, by BIA) were measured. Body mass index (BMI) did not change. ECW increased (males: 41.8+/-2.0 before vs 47.0+/-2.3 after, p<0.001; females: 48.2+/-1.4 before vs 49.4+/-2.1 after, p<0.05). BFM was reduced by licorice: (male: before 12.0+/-2.1 vs after 10.8+/-2.9%, p<0.02; female: before 24.9+/-5.1 vs after 22.1+/-5.4, p<0.02); plasma renin activity (PRA) and aldosterone were suppressed. Licorice was able to reduce body fat mass and to suppress aldosterone, without any change in BMI. Since the subjects were consuming the same amount of calories during the study, we suggest that licorice can reduce fat by inhibiting 11beta-hydroxysteroid dehydrogenase Type 1 at the level of fat cells.

Effects of hypocaloric dietary treatment enriched in oleic acid on LDL and HDL subclass distribution in mildly obese women.

OBJECTIVE: To study the effects of a carbohydrate-enriched (HiCarbo) or olive-oil-enriched (HiMUFA) hypocaloric diet on plasma lipoprotein levels and physical properties. DESIGN: A six-month follow-up dietary intervention study with a HiCarbo diet providing 60% of total calories as complex carbohydrates, 15% as proteins and 25% as fats [10% saturated (SFA); 7% monounsaturated (MUFA); 8% polyunsaturated fatty acids (PUFA)]; or a HiMUFA diet with 40% complex carbohydrates, 15% proteins and 45% fats (10% SFA; 27% MUFA; 8% PUFA). SUBJECTS: Twenty consecutive, mildly obese, normolipidemic premenopausal women (11 on HiCarbo and nine on HiMUFA diets) and 14 age- and sex-matched, lean controls. MEASUREMENTS: Body mass index (BMI), waist/hip ratio, plasma lipoproteins, apolipoprotein (apo) AI and B, LDL and HDL density distribution, and phospholipid fatty acid composition at baseline, and after 3 and 6 months on dietary treatment. RESULTS: Body weight progressively decreased during the first 3 months and then it stabilized during the following 3 months (-11% vs. baseline in both groups; P < 0.01). LDL-Cholesterol decreased significantly in both groups. HDL-Cholesterol increased significantly in the HiMUFA group, whereas a decreased level was observed in the HiCarbo group. At baseline the obese women had higher very low density lipoprotein (VLDL) and dense LDL-Cholesterol, and lower HDL2 cholesterol levels than the controls; these abnormalities persisted in the HiCarbo diet, whilst a significant decrease in the dense LDL associated with an increase in the HDL2 cholesterol was seen in the HiMUFA diet. HDL3 was not affected by either diet. The LDL/HDL-Cholesterol ratio was not affected by the HiCarbo diet, whilst it was significantly reduced after 6 months of HiMUFA diet as compared with baseline. Apo AI increased in the HiMUFA group, and decreased in the HiCarbo group. CONCLUSIONS: Both diets were effective in decreasing body weight. At steady weight conditions, only the HiMUFA diet improved LDL and HDL subclass distribution abnormalities present in mildly obese normolipidemic women.