The clinical manifestations, biochemical parameters and imaging examination, genetic test results, and treatment of 3 cases of X-linked adrenoleukodystrophy(X-ALD) patients were reviewed and analyzed, and the structure of adrenoleukodystrophy protein(ALDP) was analyzed. All 3 patients were male. Patients 1 and 2 were childhood cerebral ALD(CCALD), patients 3 was adrenomyeloneuropathy(AMN), and all of them were misdiagnosed at early stage. Brain magnetic resonance imaging(MRI), and hematologic examinations showed the neurological demyelination of X-ALD, adrenocortical insufficiency, and accumulation of very long chain fatty acids(VLCFAs). Sequencing of ABCD1 gene revealed 3 new pathogenic mutations[c.910delins22(p.A304delins8), c. 887A>C(p.Y296S), and c. 1451_1481del(p.P484fs)], which affected the key structure of ALDP and led to the disease. Patients 1 and 2 received hematopoietic stem cell transplantation, and their condition continued to progress after surgery. Patient 3 was in stable condition. The misdiagnosis rate of X-ALD is high, clinicians should be vigilant. In this study, 3 new mutations were found, which expanded the ABCD1 gene mutation spectrum in patients with X-ALD. It is important to note that early identification and early diagnosis of X-ALD should be made to reduce misdiagnosis and mistreatment.

Acute intermittent porphyria(AIP) is a rare inherited metabolic disease that can cause severe and fatal acute attacks. This article shares the treatment and management of a severe AIP patient. It is proposed that (1) avoiding incentives is essential; (2) emotional problems easily overlooked should be paid attention; (3) long-term follow-up and patient education can improve the prognosis. The patient underwent renal biopsy during the remission period. We found a red-brown-yellow-white refractive index crystal under a polarized light microscope that had not been reported in the previous literature, which was speculated to be a porphyrin crystal.

Acute intermittent porphyria (AIP) is a rare disease caused by autosomal dominant inheritance caused by mutations in PDGD/ HMBS gene. Clinical manifestations include severe abdominal pain, intestinal paralysis, limb weakness, epilepsy and psycho-emotional abnormalities. Due to the rarity of the disease and insufficient awareness of medical staff, the rate of clinical misdiagnosis is extremely high. Psycho-emotional abnormality is an important clinical manifestation of AIP and a common cause of acute attacks, but the current clinical attention is far from enough. This article reviews the current situation of anxiety, depression and other psycho-emotional abnormalities, quality of life, pain, fatigue, sleep, fear of disease progression, disease stigma, psychological pain and other indicators of AIP patients, in order to provide directions for improving domestic medical staff's medical care for AIP patients and to provide a basis for preventing attacks, reducing complications and improving prognosis.

The etiology of 46, XY disorders of sex development is complex and the clinical manifestations are various. Patients with a female phenotype often present with primary amenorrhea during adolescence, which is difficult to find. We analyze the clinical features of 3 cases of female phenotype diagnosed by gene sequencing. The pathogenesis, clinical manifestations, diagnosis, and treatment were reviewed.

Objective:To explore the effect of paradoxical intention training on the sleep quality, negative emotion and quality of life of elderly patients with obstructive sleep apnea syndrome (OSAS) .Methods:From March 2018 to February 2020, convenience sampling was used to enroll 130 elderly OSAS patients admitted to the First Affiliated Hospital of Zhengzhou University. Patients were randomly divided into control group and observation group, with 65 cases in each group. Control group implemented routine nursing, while observation group conducted paradoxical intention training based on routine nursing. Pittsburgh Sleep Quality Index (PSQI) , Hospital Anxiety and Depression Scale (HADS) , Calgary Sleep Apnea Quality of Life Index (SAQLI) were used before and after the intervention to compare the sleep quality, psychological status and quality of life between two groups.Results:After one week of intervention, the score of PSQI, anxiety subscale (HADS-A) , depression subscale (HADS-D) of observation group were (7.08±2.70) , (6.25±1.20) and (6.34±1.24) respectively, lower than those of control group, the differences were statistically significant ( t=4.871, 9.439, 8.754; P<0.01) . After the intervention, the total score of SAQLI in observation group was (4.87±0.35) and that in control group was (4.22±0.25) , the difference was statistically significant ( t=12.184, P<0.01) . Conclusions:Paradoxical intention training can help improve the sleep quality, psychological conditions and quality of life of elderly OSAS patients.

Objective To study the effect and mechanism of Dl-3-n-butylphthalide(NBP) on mem-ory and learning ability in type 2 diabetes model db/db mice. Methods Sixteen male db/db mice were ran-domly divided into the NBP group and diabetes group,with 8 mice in each group. Eight male db/m mice of the same age were treated as the control group. NBP group was given NBP by gavage,while diabetes group and control group were given equal volume vegetable oil by gavage. After 6 weeks treatment,Morris water maze was used to examine the spatial memory and learning ability of the mice in each group. The changes of long-term potentiation ( LTP) in the hippocampus area of mice were detected by electrophysiological tech-niques. RT-PCR and Western blot were employed to measure expressions of VEGF,caspase-3,and Aβ1-42 in hippocampus of mice. Results Compared with the control group((21. 49±4. 41)s),average escape la-tency of day 5 in the diabetes group and NBP group were increased significantly ((51. 69±5. 45)s,(26. 92± 4. 76)s,t=9. 21,2. 35,both P<0. 05). Compared with the control group(7. 00±0. 60),the number of cross-ing the target platform in the diabetes group and NBP group were decreased significantly(2. 34± 0. 27), (4. 95±0. 54),t=-6. 56,-2. 49;both P<0. 05). Compared with the control group((255. 90±54. 24)%), LTP level in hippocampus of the diabetes group and NBP group were significantly decreased ( 130. 97 ± 14. 08)%,(176. 17 ± 18. 96)%,t=-4. 25,-2. 38; both P<0. 05). The relative expression of VEGF, caspase-3,and Aβ1-42 in the diabetes group and NBP group were significantly increased compared with those of the control group (t=4. 59,8. 42;7. 36,3. 85;3. 84,2. 11;all P<0. 05). Compared with the diabetes group,the escape latency of day 5,the number of crossing the target platform and LTP level were improved in the NBP group (t=-7. 25,4. 06,3. 25;all P<0. 05). The decreased expression of caspase-3,Aβ1-42 and increased expression of VEGF were reversed after NBP treatment in db/db mice (t=-4. 14,-2. 31,3. 42;all P<0. 05). Conclusion NBP might improve cognitive function and LTP by exerting anti-apoptosis effect through inhibiting the deposition of Aβ1-42 and upregulating VEGF expression in hippocampus of db/db mice.

To explore the present status of fluid therapy and clinical outcome in critically ill patients in intensive care units (ICU).ICU patients consecutively admitted to our ICU were prospectively enrolled.Patients' demographics,laboratory data,fluid record and clinical outcome were collected.Fluid intake quantity of all patients was at peak on the fifth day which was 2 806 (1 997,3 582)ml.From the fourth day in ICU,fluid balance started to benegative as-84 (-1 127,612)ml and gradually increased.Crystalloid solution was the main components.For treatment purposes,medication injections and nutrients were major fluids.Positive correlations were found between total fluid intake quantity,total crystalloid volume,total colloidal volume and hospital stay,ICU stay,duration of intubation (r values as 0.211,0.686,0.282,0.155,0.506,0.174,0.209,0.072,0.292,respectively P＜0.05).Moreover,positive correlations were also demonstrated between total colloidal volume and total bilirubin,direct bilirubin,alanine transaminase,aspartate transaminase,blood urea nitrogen,serum creatinine (r values as 0.196,0.242,0.190,0.335,0.284,0.223,respectively P＜0.05).

Objective To investigate the role of neuroglobin ( NGB) in oxygen-glucose deprivation and reoxygenation ( OGD/R ) induced mitochondrial depolarization and reactive oxygen species ( ROS ) production in a human neuroblastoma cell line (SH-SY5Y).Methods SH-SY5Y cells were transfected with lentivirus to establish a stable cell line of NGB knockdown ( KD).After treated with OGD/R, cells were collected at different time points to analyze NGB mRNA and protein levels.Furthermore, cells were stained with JC-1 and DCFH-DA to evaluate mitochondrial depolarization and ROS production by inverted fluorescence microscope.Also, to determine the neurotoxicity , we measured the lactate dehydrogenase ( LDH) level in the cell culture medium.Results After the treatment of OGD/R, the NGB mRNA and protein started to elevate and peak at 4 h and 8 h (2.04 ±0.35 fold,1.69 ±0.18 fold).Compared with the vector group , NGB KD group had much more mitochondrial depolarization [ JC-1 red/green ( 1.10 ±0.10 ) vs (1.46 ±0.11),P<0.05] and ROS production [DCFH-DA fluorescence (36.30 ±5.32) vs (16.26 ± 2.97),P<0.05].Furthermore, NGB KD groups had a higher level of LDH release [(63.42 ±6.14)%vs (49.65 ±5.09 )%, P <0.05 ].Conclusions NGB plays an important role in the homeostasis of mitochondria.Knockdown of NGB results in increased mitochondrial depolarization , ROS production and neurotoxicity under hypoxia circumstances.

Objective To investigate the diagnostic value of neuron-specific enolase(NSE),central nervous system specific protein (S100β),interleukin-6 (IL-6) in sepsis-associated encephalopathy (SAE).Methods Clinical data of patients admitted to ICU and diagnosed with sepsis were collected from January 2015 to June 2016 in Xiangya Hospital,Central South University.SAE was defined as cerebral dysfunction in the presence of sepsis that also fulfilled the exclusion criteria.The acute physiology and chronic health score (APACHE Ⅱ),sequential organ failure assessment (SOFA),NSE,S100β,IL-6,ICU stay time and 28-day mortality were compared between the two groups.NSE,S1003 and IL-6 were measured on the 1 st and 3rd day in ICU to determine the optimal cut-off value of SAE.Results Among 59 enrolled patients,36 were assigned to SAE group while 23 were non-SAE group.The SAE group had a significantly higher APACHE Ⅱ and SOFA scores,as well as the length of ICU stay (P ＜ 0.01).The levels of NSE,S1003 and IL-6 in the two groups both increased on the 1st day,and decreased on the 3rd day.The level of NSE on the 1st day [19.28 (13.00,30.52) μg/L vs 16.61 (7.58,22.01 μg/L)] and the 3rd day[16.03 (9.40,21.29) μg/L vs 11.39(8.49,15.00) μg/L,P=0.029],IL-6 on the 1st day[676.25(81.34,5 000.00) mg/L vs [209.10(42.27,648.20) mg/L,P =0.005] and the 3rd day [157.10 (72.85,687.63) mg/L vs 55.92 (31.62,177.00) mg/L,P =0.026] of SAE group was significantly higher than those of non-SAE group.However S100β between groups on the 1st day [0.33(0.15,0.54) μg/L vs 0.23(0.16,0.53) μg/L] and the 3rd day[0.19(0.10,0.29) μg/L vs 0.10(0.05,0.17) μg/L] was neither significant (P ＞0.05).The diagnostic values for SAE of NSE,S1003 and IL-6 were 14.36 μg/L,0.14 μg/L and 91.305 mg/L with sensitivity 61.1％,61.1％,72.2％ and specificity 73.9％,69.6％,69.6％,respectively.The diagnostic AUC of NSE and IL-6 combination was 0.774,95％ CI 0.651-0.896.Conclusion All sepsis patients have different degrees of brain injury.NSE combined with IL-6 on the 3rd day in ICU demonstrates the diagnostic significance of SAE.

Objective To investigate the correlation and significance of S100A12 with obstructive sleep apnea hypopnea syndrome (OSAHS).Methods Fifty-three patients with OSAHS were chosen as OSAHS group and 46 healthy volunteers were chosen as control group.The levels of S100A12 and hs-CRP in the two groups were compared,and its relationship with those of epworth (ESS),apnea hypopnea index (AHI),and minimum blood oxygen saturation (L-SpO2) were analysised.Results The scores of ESS,BMI,A HI,L-SpO2,hs-CRP and S100A12 in two groups were statistically significant (P＜0.05).The severity of hs-CRP in severe OSAHS group was significantly higher than that of mild OSAHS group (P＜0.05).There was no significant difference in hs-CRP between moderate OSAHS group and mild OSAHS group and severe group (P＞0.05).The level of S100A12 in severe OSAHS group was significantly higher than that of moderate OSAHS group and OSAHS mild group(P＜0.05).The level of S100A12 in moderate moderate group was significantly higher than that of mild group(P＜0.01).hs-CRP was negatively correlated with ESS and AHI (r=0.822,0.787,P＜0.01),was positively correlated with L-SpO2 (r=-0.740,P＜0.01),S100A12 was positively correlated with ESS and AHI (r =0.707,P ＜ 0.01),and negatively correlated with ESS and AHI (r =0.707,0.807,P＜0.01),and negatively correlated with with L-SpO2 (r=-0.670,P＜0.01).Conclusion S100A12 is associated with OSAHS.The higher the severity of OSAHS,the higher the S100A12 value,which can be used as a new predictor of cardiovascular disease risk in OSAHS patients.