[A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome].

A 5-year-old female patient, presented with"night blindness and poor hearing for 1 year"whose first diagnosis was Usher syndrome due to retinitis pigmentosa accompanied by sensorineural deafness. Compound heterozygous variants (c.5G>A, p.W2*/c.3022C>T, p.P1008S) of PEX1, the causative gene for Zellweger spectrum disorder was confirmed by targeted exome sequencing analysis. Permanent tooth enamel dysplasia, nail leukoplakia, and biochemical abnormalities of peroxisome which is consistent with mild Zellweger spectrum disorder were found when she followed up.

Analysis of risk factors and prognosis of post-stroke pulmonary infection in integrated ICU.

OBJECTIVE: The incidence of SAP (stroke-associated pneumonia) is high in integrated ICU (Intensive Care Unit), and it might result in sepsis, which exacerbates the clinical outcome and increases mortality. It is necessary to investigate the epidemiological features of post-stroke infection and sepsis, identify the risk factors and analyze the prognosis. PATIENTS AND METHODS: We retrospectively analyzed the data of 329 patients with cerebral infarction or cerebral hemorrhage, from seven tertiary university hospitals in Suzhou, Jiangsu Province, between January 1, 2016, and December 31, 2016. Basic demographic and clinical data including common health evaluation, stroke severity, microbiological parameters, surgical interventions and treatments were recorded for the analysis. SAP was diagnosed according to the criteria and recommendation from American Heart Association (AHA). RESULTS: 188 (66.4%) patients suffered pneumonia, 124 patients were diagnosed as SAP. Compared with SAP, patients with non-SAP pulmonary infection had prolonged mechanical ventilation time, prolonged central venous catheter indwelling time, and higher incidence of sepsis (17.7% vs. 48.4%). 53 patients (18.7%) developed sepsis during hospitalization, whose mortality rate during hospitalization and the occurrence of neurologic dysfunction at 3 months were significantly increased (p<0.05). 130 positive results of sputum cultures were found. The detected pathogens were mainly gram-negative bacteria. The pathogenic detection rate of non-SAP patients with pulmonary infection was higher (78.1%). The in-hospital mortality was 16.3% and the related risk factors were higher NIHSS score at admission, lower GCS score at admission, pulmonary infection (especially non-SAP pulmonary infection) and sepsis during hospitalization. CONCLUSIONS: The incidence of pulmonary infection after stroke in the integrated ICU is high, and it is easy to be complicated with sepsis, prolonging the mechanical ventilation time, central venous catheter indwelling time and hospitalization time, and the prognosis of long-term neurological function is relatively poor. The definition of stroke-associated pneumonia has implications for the classification of clinical infections, the prediction of possible pathogenic pathogens, and the guidance of anti-infective treatment.

[Effects of lappaconitine on intraoperative administration of remifentanil induced postoperative hyperalgesia in general anaesthesia patients].

Objective: To explore the effects of lappaconitine on intraoperative administration of remifentanil induced postoperative hyperalgesia in general anaesthesia patients. Methods: One hundred and twenty patients from March to October 2016 undergoing elective thyroid operation under general anaesthesia at Ningbo NO.2 hospital, American Society of Anesthesiologists(ASA) Ⅰ or Ⅱ grade, aged 20-60, were enrolled in this study and randomly assigned to 3 groups (n=40). Remifentanil was intraoperatively infused at 0.1 µg·kg(-1)·min(-1) (Group S) or 0.3 µg·kg(-1)·min(-1) (Groups L and G), and patients in group G received lappaconitine 8 mg 30 minutes before the ending of surgery. Mechanical pain thresholds, visual analogue scale (VAS) and additional analgesics were recorded at 2, 6 and 24 hours after the operation. Results: There was no significant difference among the VAS and additional analgesics in three groups at 2, 6 and 24 h after operation (all P>0.05). There was no significant difference among the mechanical pain thresholds in three groups before and 2 h after operation (all P>0.05). The mechanical pain thresholds of group S, L and G was (45.7±15.6), (35.8±15.0), (47.6±16.4)g at 6 h and (50.7±17.0), (33.7±14.0), (49.7±13.9 )g at 24 h after operation. There was significant difference among the mechanical pain thresholds in group S, L and G at 6 h and 24 h after operation (F=6.586, 16.089, all P<0.01). Compared to group S, the mechanical pain thresholds significantly decreased in group L at 6 h and 24 h after operation (q=2.837, 5.045, all P<0.01). While there was a significantly increase in pain thresholds at 6 h and 24 h postoperatively in group G, as compared with the group L (q=3.384, 4.770, all P<0.01). Conclusion: Lappaconitine significantly alleviated intraoperative administration of remifentanil induced postoperative hyperalgesia in general anaesthesia patients.

Effects of dietary supplementation of methionine and lysine on milk production and nitrogen utilization in dairy cows.

The effect of the content of lysine and methionine in metabolizable protein (MP) on lactation performance and N utilization in Chinese Holstein cows was determined. A control diet (C) was formulated to be adequate in energy but slightly limiting in MP. The concentration of Met and Lys in MP was 1.87 and 5.93%, respectively. The treatments were as follows (% of Met or Lys in MP): L=diet C supplemented with L-lysine-HCl at 0.49% on a dry matter (DM) basis (Met, 1.87; Lys, 7.00); M=diet C supplemented with 2-hydroxy-4-(methylthio)-butanoic acid (HMB) at 0.15% (Met, 2.35; Lys, 5.93); ML=diet C supplemented with 0.49% L-lysine HCl and 0.15% HMB (Met, 2.39; Lys, 7.10). The diets were fed to 60 Chinese Holsteins in mid-lactation (average days in milk=120, and milk yield=32.0 kg/d) for 8 wk. Milk yield was increased by supplementation of either Lys (1.5 kg/d) or Met (2.0 kg/d), and supplementation of both Lys and Met further increased milk yield (3.8 kg/d). There was no significant difference in dry matter intake across treatment groups. Cows on treatments M (3.95%) and ML (3.90%) had higher milk fat content than those on C (3.60%) and L (3.67%), but there were no significant differences in milk protein and lactose contents or somatic cell count among treatments. Supplementation of Met or Lys significantly increased Met or Lys concentration in arterial plasma. Treatment ML had a higher conversion of intake N to milk N and lower urea N concentrations in serum, urine, and milk than did treatment C. Supplementing HMB and L-lysine-HCl to provide approximately 2.3% Met and 7.0% Lys of the MP in diets slightly limiting in MP increased milk production, milk protein yield, and N utilization efficiency.

Effect of level of metabolizable protein on milk production and nitrogen utilization in lactating dairy cows.

The objective of this study was to investigate the effects of the level of metabolizable protein (MP) on milk production and nitrogen utilization in Chinese Holstein dairy cows. Forty multiparous dairy cows (body weight = 590 kg; days in milk = 135; average milk yield = 30.2 kg/d) were assigned to treatments randomly within groups based on days in milk and milk production. Animals were offered diets with different levels of MP: 8.3% (diet A), 8.9% (diet B), 9.7% (diet C), and 10.4% (diet D) of dry matter. The MP level in diet A was designed to meet the current Chinese National Station of Animal Production and Health guidelines, whereas that in diet D was based on the National Research Council (2001) model. The experiment lasted for 7 wk. Milk yield and milk composition (fat, protein, and lactose) were recorded, and urea nitrogen concentrations in serum, urine, and milk were measured during the experiment. Milk yield and milk protein percentage increased as the MP increased up to 9.7% of dry matter, and then leveled off. Concentrations of nitrogen in urine, serum, and milk increased linearly as the amount of MP was increased, indicating decreased efficiency of nitrogen utilization. Milk lactose percentage and total solids percentage showed no significant differences among the 4 diets. We concluded that the optimal dietary MP level was at 9.6% of dry matter for Chinese Holstein dairy cows producing 30 kg of milk per day.

Effects of dietary sources of vegetable oils on performance of high-yielding lactating cows and conjugated linoleic acids in milk.

This study was conducted to examine the effects of dietary supplementation with vegetable oils on performance of high-yielding lactating cows and conjugated linoleic acid (CLA) content in milk fat. Twelve lactating Holstein cows in early lactation (30 to 45 d postpartum) were used in a triple 4 x 4 Latin square design. In each period, the cows in each group were fed the same basal diet and received one of the following treatments: 1) control (without oil), 2) 500 g of cottonseed oil, 3) 500 g of soybean oil, and 4) 500 g of corn oil. Each experimental period lasted for 3 wk, with the first 2 wk used for adaptation to the diet. Supplementation with vegetable oils tended to increase milk yield, with the highest milk yield in the cottonseed oil group (35.0 kg/d), compared with the control (34.4 kg/d). Milk fat percentage was decreased, but there were few effects on percentage and yield of milk protein as well as milk fat yield. The cows fed added soybean oil produced milk with the highest content of trans-11 C(18:1) (23.8 mg/g of fat), which was twice that of the control (12.6 mg/g of fat). Content of cis-9, trans-11 CLA in milk fat increased from 3.5 mg/g in the control to 6.0, 7.1, and 10.3 mg/g for the cows fed oils from cottonseed, corn, and soybean, respectively. A significant linear relationship existed between trans-11 C(18:1) and cis-9, trans-11 CLA. Supplementation with oils doubled the content of total fatty acids in blood plasma, with little difference between different vegetable oil sources. Octadecenoic acid content was significantly higher in blood plasma of animals fed added oils from cottonseed and soybean than those fed with corn oil and control. The plasma trans-11 C(18:1) content was significantly higher in the oil-added animals than in control. Supplementation of vegetable oils tended to improve milk production of lactating cows, and the CLA content in milk fat was significantly increased. Soybean oil seemed to be the optimal source to increase CLA production.