[Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis].

Objective: To investigate the clinical presentation and genetic characteristics of malignant infantile osteopetrosis. Methods: This was a retrospective case study. Thirty-seven children with malignant infantile osteopetrosis admitted into Beijing Children's Hospital from January 2013 to September 2022 were enrolled in this study. According to the gene mutations, the patients were divided into the CLCN7 group and the TCIRG1 group. Clinical characteristics, laboratory tests, and prognosis were compared between two groups. Wilcoxon test or Fisher exact test were used in inter-group comparison. The survival rate was estimated with the Kaplan-Meier method and the Log-Rank test was used to compare the difference in survival between groups. Results: Among the 37 cases, there were 22 males and 15 females. The age of diagnosis was 0.5 (0.2, 1.0) year. There were 13 patients (35%) and 24 patients (65%) with mutations in CLCN7 and TCIRGI gene respectively. Patients in the CLCN7 group had an older age of diagnosis than those in the TCIRGI group (1.2 (0.4, 3.6) vs. 0.4 (0.2, 0.6) years, Z=-2.60, P=0.008). The levels of serum phosphorus (1.7 (1.3, 1.8) vs. 1.1 (0.8, 1.6) mmol/L, Z=-2.59, P=0.010), creatine kinase isoenzyme (CK-MB) (457 (143, 610) vs. 56 (37, 82) U/L, Z=-3.38, P=0.001) and the level of neutrophils (14.0 (9.9, 18.1) vs. 9.2 (6.7, 11.1) ×109/L, Z=-2.07, P=0.039) at diagnosis were higher in the CLCN7 group than that in the TCIRG1 group. However, the level of D-dimer in the CLCN7 group was lower than that in the TCIRGI group (2.7 (1.0, 3.1) vs. 6.3 (2.5, 9.7) µg/L, Z=2.83, P=0.005). After hematopoietic stem cell transplantation, there was no significant difference in 5-year overall survival rate between the two groups (92.3%±7.4% vs. 83.3%±7.6%, χ²=0.56, P=0.456). Conclusions: TCIRGI gene mutations are more common in children with osteopetrosis. Children with TCIRGI gene mutations have younger age, lower levels of phosphorus, CK-MB, and neutrophils and higher level of D-dimer at the onset. After hematopoietic stem cell transplantation, patients with CLCN7 or TCIRGI gene mutations have similar prognosis.

Oral administration of short chain fatty acids could attenuate fat deposition of pigs.

Short chain fatty acids (SCFAs) are the main products of indigestible carbohydrates that are fermented by microbiota in the hindgut. This study was designed to investigate the effects of oral SCFAs administration on the lipid metabolism of weaned pigs. A total of 21 barrows were randomly allocated into three groups, including control group (orally infused with 200 mL physiological saline per day), low dose SCFAs group (orally infused with 200 mL SCFAs containing acetic acid 20.04 mM, propionic acid 7.71 mM and butyric acid 4.89 mM per day), and high dose SCFAs group (orally infused with 200 mL SCFAs containing acetic acid 40.08 mM, propionic acid 15.42 mM and butyric acid 9.78 mM per day). The results showed that the average daily feed intake of SCFAs groups were lower than that of control group (P<0.05). Oral administration of SCFAs decreased the concentrations of triglyceride (TG), total cholesterol (TC), high density lipoprotein-cholesterol and insulin (P<0.05), and increased the leptin concentration in serum (P<0.05). The total fat, as well as TC and TG levels in liver, was decreased by oral SCFAs administration (P<0.05). In addition, SCFAs down-regulated the mRNA expressions of fatty acid synthase (FAS) and sterol regulatory element binding protein 1c (P<0.05), and enhanced the mRNA expression of carnitine palmitoyltransferase-1α (CPT-1α) in liver (P<0.05). SCFAs also decreased FAS, acetyl-CoA carboxylase (ACC) and peroxisome proliferator activated receptor σ mRNA expressions in longissimus dorsi (P<0.05). And in abdominal fat, SCFAs reduced FAS and ACC mRNA expressions (P<0.05), and increased CPT-1α mRNA expression (P<0.05). These results suggested that oral administration of SCFAs could attenuate fat deposition in weaned pigs via reducing lipogenesis and enhancing lipolysis of different tissues.

Effect of Dietary Non-phytate Phosphorus Levels on the Diversity and Structure of Cecal Microbiota in Meat Duck from 1 to 21 d of age.

The study was conducted to distinguish the effect of dietary non-phytate phosphorus (NPP) levels on the community diversity and structure of the cecal microbiota in meat duck based on 16S rDNA high-throughput sequencing. In total, 525 1-d-old ducklings were fed diets (105 ducklings, 7 pens of 15 ducklings, on each diet) containing five levels of NPP (0.22, 0.34, 0.40, 0.46, and 0.58%) for 21 days. The results showed that dietary NPP levels linearly and quadratically increased (P < 0.05) 21 d body weight, 1 to 21 d feed intake and NPP intake, and contrarily, linearly decreased (P < 0.05) ß-diversity of cecal microbial population in ducks. ß-diversity analyses showed that microbiota clustering based on dietary NPP levels occured, with 0.22% NPP groups distinctly different from the 0.46% and 0.58% NPP group samples. Moreover, dietary NPP levels could change the relative abundance of the phylum Proteobacteria (linear, P < 0.05), genera Eubacterium coprostanoligenes (quadratic, P < 0.05), Ruminococcaceae UCG-014 (quadratic, P < 0.05) and Subdoligrannulum (linear, P < 0.05), and Lachnospiraceae family (quadratic, P < 0.05) in cecal microbiota of ducks. Increasing the dietary NPP level influenced the cecal microbiota and positively affected the growth of meat ducks.

Effect of maternal canthaxanthin and 25-hydroxycholecalciferol supplementation on the performance of ducklings under two different vitamin regimens.

This study investigated the effects of maternal canthaxanthin (CX, 6 mg/kg) and 25-hydroxycholecalciferol (25-OH-D3 , 0.069 mg/kg) supplementation on the performance of Cherry Valley ducklings under two different vitamin regimens. A total of 780 duck breeder females and 156 males were randomly allotted to two diets with or without the addition of the mixture of CX and 25-OH-D3 (CX+25-OH-D3 ) for 32 weeks. Ducklings (males and females separately) hatched from eggs laid at 24 weeks of the duck breeder trial were fed with a NRC vitamin regimen, and ducklings (males and females separately) hatched from eggs laid at 32 weeks of the duck breeder trial were fed with a HIGH vitamin regimen (had higher levels of all vitamins except biotin than NRC vitamin regimen), for 14 days. The results showed that, maternal CX+25-OH-D3 supplementation increased the shank pigmentation for 7-days post hatch in ducklings under a NRC vitamin regimen, and for 14-days post hatch in ducklings under a HIGH vitamin regimen. Growth performance, antioxidant status and serum phosphorus of ducklings under a NRC vitamin regimen were increased by maternal CX+25-OH-D3 supplementation; however, these positive effects were not observed in ducklings under a HIGH vitamin regimen. Males revealed increased growth performance in ducklings under both NRC and HIGH vitamin regimens. Sexual differences in shank pigmentation, antioxidant status, tibia strength and serum phosphorus were not consistent as they were dependent on maternal CX+25-OH-D3 status or dietary vitamin regimens. Data suggest that maternal CX+25-OH-D3 supplementation is important for starter ducklings under a NRC vitamin regimen, but not HIGH vitamin regimen.

Effect of tea polyphenols on production performance, egg quality, and hepatic antioxidant status of laying hens in vanadium-containing diets.

This study was conducted to determine the effect of tea polyphenols (TP) on production performance, egg quality, and hepatic-antioxidant status of laying hens in vanadium-containing diets. A total of 300 Lohman laying hens (67 wk old) were used in a 1 plus 3 × 3 experiment design in which hens were given either a diet without vanadium and TP supplementation (control) or diets supplemented with 5, 10, or 15 mg V/kg and TP (0, 600, 1,000 mg/kg) diets for 8 wk, which included 2 phases: a 5-wk accumulation phase and a 3-wk depletion phase. During the accumulation phase, dietary vanadium addition decreased (linear, P < 0.01) albumen height and Haugh unit (HU), and TP supplementation mitigated (linear effect, P < 0.01) this reduction effect induced by vanadium. Eggshell thickness (linear, P < 0.01), redness (linear and quadratic, P < 0.05), and yellowness (linear and quadratic, P < 0.05) were decreased by vanadium and increased by the effect of TP when a vanadium-containing diet was fed. In the depletion phase, the bleaching effect on eggshells induced by vanadium disappeared one wk after vanadium withdrawal. Eggshell thickness, eggshell strength, albumen height, and HU were lower (P < 0.05) in the 15 mg/kg vanadium group compared with the control diet until 2 wk post vanadium challenge, but hens fed 15 mg/kg vanadium and 600 mg/kg TP showed no difference from the control diet only after 1 wk withdrawal. In the liver, the activity of glutathione S-transferases and glutathione peroxidase was increased (linear, P < 0.01) with the TP addition at 5 wk in the accumulation phase in the vanadium-containing diet; the malondialdehyde content increased (linear effect, P = 0.02) with the addition of vanadium. The results indicate that supplementation of 10 and 15 mg/kg vanadium resulted in reduced albumen quality, bleaching effect on eggshell color, and antioxidant stress in the liver. The effect of TP addition can prevent laying hens from the adverse effect of vanadium on egg quality, liver antioxidant stress and shorten the recovery time.

Effects of dietary canthaxanthin and 25-hydroxycholecalciferol supplementation on the antioxidant status and tibia quality of duck breeders and newly hatched ducklings.

This study evaluated the effects of dietary canthaxanthin (CX) and 25-hydroxycholecalciferol (25-OH-D3) supplementation on the antioxidant status and tibia quality of duck breeders and newly hatched ducklings. In total, 780 female and 156 male duck breeders were randomly allotted to 2 treatments. Duck breeders were fed either a commercial diet (containing 3,000 IU/kg vitamin D3) or the same diet plus a mixture of CX (6 mg/kg) and 25-OH-D3 (0.069 mg/kg) for 40 wk. The antioxidant status of duck breeders, egg yolk, and ducklings; tibia quality of duck breeders and ducklings; and shell quality of breeder eggs were investigated. The total antioxidant capacity of breeder female liver (P = 0.028), breeder male testis (P = 0.049), egg yolk (P = 0.032), one-day-old duckling liver (P = 0.024), and one-day-old duckling yolk sac (P = 0.012) were increased by dietary supplementation of the mixture of CX and 25-OH-D3 The inclusion of CX and 25-OH-D3 decreased liver protein carbonyl of breeder females (P = 0.030), and liver malonaldehyde (P = 0.050) and protein carbonyl (P = 0.030) of breeder males. Yolk (P < 0.001), shank (P < 0.001), and yolk sac pigmentation (P < 0.001) of one-day-old ducklings were increased by the supplementation of the CX and 25-OH-D3 mixture. No differences (P > 0.05) were observed in tibia quality or eggshell quality between treatments. In conclusion, the inclusion of the mixture of CX and 25-OH-D3 in a diet sufficient in vitamin D3 increased antioxidant status but not tibia quality of duck breeders and newly hatched ducklings.

The effects of maternal dietary vitamin premixes, canthaxanthin, and 25-hydroxycholecalciferol on the performance of progeny ducklings.

This trial studied the effects of maternal dietary vitamin premixes, and the mixture of canthaxanthin (CX) and 25-hydroxycholecalciferol (25-OH-D3) on the performance of progeny ducklings. Four maternal diets were used under a 2 × 2 factorial arrangement with 2 kinds of vitamin premixes (Regular and High; High premix had higher levels of all vitamins except K3 than the Regular premix), and with or without the addition of the mixture of CX (6 mg/kg) and 25-OH-D3 (0.069 mg/kg). Cherry Valley duck breeders (38-wk-old) were fed with corn-wheat flour-soybean meal-based diets for 8 wk, and then eggs were collected and hatched. Healthy ducklings (equal number of female and male) from each maternal group were randomly selected and received the same commercial starter (1 to 14 d) and grower (15 to 35 d) pellet diet for 35 d. Maternal High vitamin premix increased shank pigmentation (1 d, P = 0.001), BW (1 d, P < 0.001 and 14 d, P = 0.006), BW gain (1 to 14 d, P = 0.008), G:F ratio (1 to 14 d, P = 0.007), superoxide dismutase (SOD; 1 d liver, P = 0.027 and 14 d serum, P = 0.031), and total antioxidant capacity (1 d liver, P < 0.001); and decreased protein carbonyl (14 d serum, P = 0.011) of ducklings. The mixture of CX and 25-OH-D3 increased yolk pigmentation (P < 0.001); increased shank pigmentation (1 d, P < 0.001 and 14 d, P < 0.001), BW (1 d, P < 0.001), feed intake (15-35 d, P = 0.014), SOD (1 d liver, P = 0.032), and tibia ash (14 d, P = 0.010) of ducklings; and decreased malondialdehyde (P < 0.001) and protein carbonyl (P = 0.044) of yolks, and malondialdehyde (14 d serum, P < 0.001) of ducklings. In conclusion, either maternal High vitamin premix or maternal supplementation of the CX and 25-OH-D3 mixture improves growth performance and antioxidant status of ducklings.

Effects of dietary DL-2-hydroxy-4(methylthio)butanoic acid supplementation on growth performance, indices of ascites syndrome, and antioxidant capacity of broilers reared at low ambient temperature.

This study examined the effects of dietary DL-2-hydroxy-4(methylthio)butanoic acid (DL-HMTBA) supplementation on growth performance, antioxidant capacity, and ascites syndrome (AS) in broilers reared at low ambient temperature (LAT) from 7 to 28 days of age. Eight hundred 7-day-old broilers were randomly assigned to two ambient temperatures (LAT and normal ambient temperature [NAT]), four supplemental DL-HMTBA levels (0.17, 0.34, 0.51, and 0.68 %) of the basal diet in a 2 × 4 factorial arrangement (ten replicate pens; ten birds/pen). LAT and NAT indicate temperatures of 12-14 and 24-26 °C in two chambers, respectively, and broilers were reared at these temperatures from 7 to 28 days of age. LAT significantly decreased body weight gain (P < 0.001), serum glutathione (GSH) content (day 14, P = 0.02; day 28, P = 0.045), glutathione peroxidase (GSH-Px) activity, and total antioxidant capacity (T-AOC) at 21 days (P = 0.001, 0.015) and 28 days (P = 0.017, 0.010) and increased feed conversion ratio (FCR) (P < 0.001), serum malondialdehyde (day 21, P = 0.000) and protein carbonyl Level (day 14, P = 0.003; day 21, P = 0.035). As for incidence of AS, there were significant effects of LAT on red blood cell (RBC) count (P < 0.05), hematocrit (HCT) (P < 0.05), and the right to total ventricular weight ratio (RV/TV) at 21 days (P = 0.012) and 28 days (P = 0.046). Supplementation of DL-HMTBA markedly decreased RV/TV at day 28 (P = 0.021), RBC (day 21, P = 0.008), HCT (day 21, P < 0.001), mean cell hemoglobin (day 14, P = 0.035; day 21, P = 0.003), and serum protein carbonyl level (day 21, P = 0.009), while significantly increased serum GSH content (day 14, P = 0.022; day 28, P = 0.001), SOD and GSH-Px activities at 21 days of age (P < 0.001 and P = 0.037). The optimal supplemental DL-HMTBA levels in basal diet of broilers aged from 7 to 28 days under low or normal temperatures were similar, so the authors recommended supplemental of DL-HMTBA level was 0.46 %.

High-Fat Diet Increased Renal and Hepatic Oxidative Stress Induced by Vanadium of Wistar Rat.

The study was conducted to assess the effect of vanadium (V) in high-fat diet on the liver and kidney of rats in a 5-week trial. Seventy-two female Wistar rats (BW = 95 ± 5 g) were randomly allotted into eight groups. Groups I, II, III, and IV obtained low-fat diet containing 0, 3, 15, and 30 mg/kg V, and V, VI, VII, and VIII groups received the respective vanadium doses with high-fat diet, respectively. There were lesions in the liver and kidney of V, VI, VII, and VIII groups, granular degeneration and vacuolar degeneration were observed in the renal tubular and glomerulus epithelial cells, and hepatocytes showed granular degeneration and vacuolar degeneration. Supplemented high-fat diet with vanadium was shown to decrease (P < 0.05) activities of superoxide dismutase, total antioxidant capacity, glutathione-S transferase, and NAD(P)H/quinone oxidoreductase 1 (NQO1) and increase malondialdehyde content in the liver and kidney. The relative expression of hepatic nuclear factor erythroid 2-related factor 2 (Nrf-2) and NQO1 mRNA was downregulated by V addition and high-fat diet, and the effect of V was more pronounced in high-fat diet (interaction, P < 0.05), with VIII group having the lowest mRNA expression of Nrf-2 and NQO1 in the liver and kidney. In conclusion, it suggested that dietary vanadium ranging from 15 to 30 mg/kg could lead to oxidative damage and vanadium accumulation in the liver and kidney, which caused renal and hepatic toxicity. The high-fat diet enhanced vanadium-induced hepatic and renal damage, and the mechanism was related to the modulation of the hepatic and renal mRNA expression of Nrf-2 and NQO1.

The response of meat ducks from 15 to 35 d of age to gossypol from cottonseed meal.

The objective of this study was to investigate the responses of meat ducks of 15 to 35 d of age to free gossypol (FG) from cottonseed meal (CSM) and to establish the maximum limits of dietary FG concentration based on growth performance, blood parameters, and tissue residues of gossypol. Nine hundred 15-d-old ducks were randomly allocated to 5 treatments with 10 cages/treatment and 18 ducks/cage on the basis of BW. Five isonitrogenous and isocaloric experimental diets were formulated on a digestible amino acid basis to produce diets in which 0% (without FG), 25% (36 mg FG/kg), 50% (75 mg FG/kg), 75% (111 mg FG/kg), and 100% (153 mg FG/kg) of protein from soybean meal were replaced by that from CSM. Increasing dietary FG content, BW, and ADG decreased (linearly, P<0.05, except for ADG of days 29 to 35), and F/G linearly increased (P<0.05). At 35 d, blood hemoglobin, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration linearly decreased (P<0.05), while serum total protein, albumin, and globulin content linearly decreased (P<0.05), and the residue of gossypol in liver, kidney, heart, breast, and leg muscle linearly increased (P<0.001) with increases in dietary FG concentration. Ducks fed 36 mg FG/kg (5.83% CSM of diet) diet had a normal histological structure of liver, and muscle (breast and leg) had no residue of gossypol. The maximum limit of dietary FG concentration was estimated to range from a low of 36 mg/kg to maximize serum globulin concentration to a high of 124 mg/kg to minimize feed intake for 22 to 28 d on the basis of a quadratic broken-line model.

Effects of dietary gossypol concentration on growth performance, blood profiles, and hepatic histopathology in meat ducks.

The objective of this study was to determine the effects of gossypol from cottonseed meal (CSM) on growth performance, blood biochemical profiles, and liver histopathology of ducks. A total of 900 1-d-old ducks were randomly allocated to 5 treatments with 12 pens/treatment and 15 ducks/pen. The 5 experimental diets were formulated in such a way that 0% (a corn-soybean meal basal diet, diet 1), 25% (diet 2), 50% (diet 3), 75% (diet 4), and 100% (diet 5) of protein from soybean meal were replaced with that from CSM. All diets were formulated on a digestible amino acid basis. The experiment included 2 phases, the starter phase (1 to 3 wk) where the test diets contained graded levels of CSM and the growth phase (4 to 5 wk) where birds were fed a corn-soybean basal diet to examine the recovery of ducks after CSM withdrawal. Dietary CSM and gossypol linearly (P < 0.01) and quadratically (P < 0.01) decreased ADG and ADFI during d 1 to 14. The threshold of daily total gossypol (TG) and free gossypol (FG) intake based on ADG on d 1 to 7 and d 7 to 14 were 32.20 and 2.64 mg/d, and 92.12 and 9.62 mg/d, respectively. Serum alanine aminotransferase increased (P < 0.05) linearly with increasing level of gossypol in the diets (d 7), whereas aspartate aminotransferase increased (P < 0.05) linearly and quadratically (d 14). Serum albumin concentration decreased (P < 0.05) quadratically with increasing dietary CSM concentrations on d 21. The degree of damage to the liver increased markedly with increasing dietary CSM and gossypol content and the length of CSM and gossypol intake. On d 35, there was no difference on BW and blood profiles of ducks among all treatments. These results suggest that meat ducks' dietary TG and FG concentration should be lower than 928.9 and 77.2 mg/kg, respectively, during d 1 to 21 of age and that a 2-wk withdrawal of diets containing gossypol should be considered.

Effects of low ambient temperatures and dietary vitamin C supplement on growth performance, blood parameters, and antioxidant capacity of 21-day-old broilers.

The study was conducted to determine the effects of low ambient temperature (LAT) and a vitamin C (VC) dietary supplement on the growth performance, blood parameters, and antioxidant capacity of 21-d-old broilers. A total of 400 one-day-old male Cobb broilers were assigned to 1 of 4 treatments as follows: 1) LAT and a basal diet; 2) LAT and a basal diet supplemented with 1,000 mg of VC/kg (LAT + VC); 3) normal ambient temperature (NAT) and a basal diet; 4) NAT and a basal diet supplemented with 1,000 mg of VC/kg (NAT + VC). All birds were fed to 21 d of age. Broilers in groups 1 and 2 were raised at 24 to 26°C during 1 to 7 d, and at 9 to 11°C during 8 to 21 d, whereas groups 3 and 4 were raised at 29 to 31°C during 1 to 7 d and at 24 to 26°C during 8 to 21 d. The LAT increased the feed conversion ratio during the whole experimental period (P < 0.01), whereas it increased heart index at 21 d (P < 0.05) and hematocrit and hemoglobin level at 14 d (P < 0.05). Supplementing the diet with VC increased hematocrit, hemoglobin, and red blood cell count at 21 d (P < 0.05). At 21 d, LAT conditions decreased total antioxidant capacity in the serum, liver, and lungs (P < 0.05), and it also increased the levels of VC in the serum and liver, the amount of protein carbonylation in liver and lungs, and the malondialdehyde level in the lungs (P < 0.05). The addition of VC tended to increase the total antioxidant capacity level in serum (P < 0.1). Low ambient temperature resulted in oxidative stress for broilers that were fed from 1 to 21 d of age, whereas no significant effect was found on the antioxidant activity by dietary VC supplementation.

[Studies on iridoid glycosides from Swertia angustifolia].

Five secoiridoid glycosides were isolated from Swertia angustifolia Buch. -Ham. ex D. Don. The structures of two new compounds, angustiamarin (I) and angustioside (II) with three known compounds sweroside (III), swertiamarin (IV) and epi-eustomoside (V) were elucidated by means of spectroscopic and chemical methods.