Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Pain assessment in children is vital in clinical practice. Accurate evaluation of pain intensity in children is the prerequisite for implementing effective analgesic interventions, it is necessary to chose age-specific assessment tools tailored to developmental stages of children. The degrees of patin reported by children themselves are the gold standard for evaluation, and self-assessment should be prioritized when feasible. In addition, behavioral and physiological assessments also show good reliability and validity. This review summarizes current domestic and international researches on pediatric pain assessment tools and their clinical applications, aiming to provide reference for optimizing pain evaluation in pediatric practice.

Pain assessment in children is vital in clinical practice. Accurate evaluation of pain intensity in children is the prerequisite for implementing effective analgesic interventions, it is necessary to chose age-specific assessment tools tailored to developmental stages of children. The degrees of patin reported by children themselves are the gold standard for evaluation, and self-assessment should be prioritized when feasible. In addition, behavioral and physiological assessments also show good reliability and validity. This review summarizes current domestic and international researches on pediatric pain assessment tools and their clinical applications, aiming to provide reference for optimizing pain evaluation in pediatric practice.

11β-Hydroxylase deficiency(11β-OHD) is a relatively rare type of autosomal recessive hereditary disease congenital adrenal cortical hyperplasia. This article reports the diagnosis and treatment of a case of 11β-OHD combined with subacute thyroiditis leading to severe hypokalemia treated in our hospital, along with a review of relevant literature.

Objective:To evaluate the clinical application of urine sediment score (USS) in early diagnosis, etiological differentiation, staging and prognosis of acute kidney injury (AKI), and to investigate the diagnostic efficacy of independent USS and its combination with blood urea nitrogen(Bun) serum creatinine(sCr) and uric acid(UA) in AKI.Methods:From August 23 to September 28, 2023, 9 020 morning urine samples of hospitalized patients in the First Hospital of Jilin University were detected by Sysmex UF5000.A total of 3 226 ssamples with small and round cell (SRC) > 1/μl and/or CAST>1/μl were screened for microscopic examination, and 404 cases with positive renal tubular epithelial cells and/or cast were enrolled in this study. There were 218 males and 186 females, aged 59.5 (49.0, 71.0) years. The 404 cases were divided into the USS AKI group (345 cases) and the USS non-AKI group (59 cases) according to the USS results based on the microscopic findings. According to Kidney Disease: Improving Global Outcomes (KDIGO) criteria, they were divided into KDIGO criteria AKI group (63 cases) and KDIGO criteria non-AKI group (341 cases), and the AKI group was divided into renal AKI group (33 cases) and non-renal AKI group (30 cases). According to the clinical diagnosis recorded in the medical records, they were divided into clinically diagnosed AKI group (29 cases) and clinically diagnosed non-AKI group (375 cases).The χ 2 test or Fisher exact test was used to compare USS in different AKI causes and stages. Logistic regression was used to calculate the odds ratio of renal AKI and stage 3 AKI. The area under the receiver operating characteristic curve was used to evaluate the sensitivity and specificity of USS, sCr, UA and Bun alone and in combination in the diagnosis of AKI, and the best cut-off value, sensitivity and specificity in the diagnosis of AKI were calculated. P < 0.05 was considered statistically significant. Results:The USS was used to identify the etiology of KDIGO standard AKI group,and there were significant differences in USS between renal AKI group and non-renal AKI group (χ 2=11.070, P<0.001). Compared to USS=1, the odds ratio of renal AKI was 8.125 when USS≥2 (95% CI 2.208—29.901). There was a statistically significant difference in the comparison of USS between groups in each stage of the AKI staging study based on USS (χ 2=15.724, P<0.05). Compared to USS=1, the odds ratio of stage 3 AKI was 9.714 when USS≥2 (95% CI 1.145-82.390). The AUC of independent USS in the diagnosis of AKI was 0.687 (95% CI 0.618-0.757, P<0.001), the specificity was 65.7% and the sensitivity was 61.9%. The AUC of USS combined with Bun, sCr, UA in the diagnosis of AKI was 0.794 (95% CI 0.608-0.980, P<0.05), the specificity was 82.4%, and the sensitivity was 88.9%. Conclusions:There wasan increased likelihood of renal AKI or stage 3 AKI while USS≥2,and whose combination with Bun, sCr and UA will improve the diagnostic efficiency of AKI.

Objective:To investigate the effect of hydromorphone combined with ropivacaine on hemodynamics, maternal and infant outcomes in labor analgesia.Methods:From April 2018 to April 2020, 150 pregnant women with single full-term pregnancy undergoing labor analgesia in Meishan Hospital Affiliated of West China Hospital, Sichuan University were randomly divided into two groups, with 75 cases in each group. The control group was given ropivacaine for labor analgesia, while the observation group was given hydromorphone combined with ropivacaine for labor analgesia. The scores of visual analogue scale (VAS), heart rate (HR), mean arterial pressure (MAP) and blood oxygen saturation (SpO 2) at the time of entering the room (T 1), after the first dose for 5 min (T 2), 10 min (T 3), after delivery for 30 min (T 4) and 60 min (T 5) were compared between the two groups. Results:The scores of VAS at T 2, T 3, T 4, T 5 in two group were decreased, and the scores of VAS in the observation group were lower than that in the control group: (5.12 ± 0.98) scores vs. (7.11 ± 1.10) scores, (4.39 ± 0.61) scores vs. (5.77 ± 0.75) scores, (3.12 ± 0.38) scores vs. (4.88 ± 0.91) scores, (2.12 ± 0.37) scores vs. (3.98 ± 1.11) scores, the differences were statistically significant ( P<0.05). The levels of HR, MAP, SpO 2 in two groups at different time point had no significant differences ( P>0.05). There were no significant difference between the first stage of labor, the second stage of labor and the third stage of labor ( P>0.05). There was no significant difference in the 5 min Apgar score of newborns and the incidence of maternal adverse reactions between the two groups ( P>0.05). Conclusions:Hydromorphone combined with ropivacaine for labor analgesia effect is ideal, and has little impact on hemodynamics of patients, and will not increase the safety risk of mother and infant.

Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
46, XX Disorders of Sex Development/genetics* ; Adult ; Aromatase/metabolism* ; Female ; Gynecomastia/genetics* ; Humans ; Infertility, Male ; Male ; Metabolism, Inborn Errors ; Mutation ; Pregnancy

Objective:To evaluate the effects of weight-bearing area compression injury of the femoral head on the prognosis of elderly acetabular fractures after open reduction and internal fixation.Methods:A retrospective analysis of 36 elderly patients with acetabular fractures treated with open reduction and internal fixation during January 2014 to January 2018 were conducted. All patients with compression injury of the weight-bearing area of the femoral head, including 22 males and 14 females with 73.2±6.5 years old (range 60-87 years old), were included. The compression injury of weight-bearing area of the femoral head was not treated. According to the Letournel-Judet classification of acetabular fractures, there were 14 cases with both-column, 12 cases with anterior column and posterior hemitransverse, 4 cases with T type, 4 cases with transverse, and 2 cases with posterior column+ posterior wall. A total of 14 cases were accompanied by acetabular joint surface compression, while 29 cases were accompanied by joint dislocation. The Merle d'Aubigné score was used to evaluate the hip function during follow-up. The Matta classification method was used to evaluate the results of acetabular fracture reduction. The Kellgren-Lawrence classification standard and Ficat-Alert staging method were used to evaluate the traumatic arthritis of the hip and femoral head necrosis, respectively. During the follow-up, the femoral head necrosis with stage III, IV, or traumatic arthritis III, IV, or with indications for joint replacement was defined as surgery failure. CT scans of the pelvis were performed before and at 2-5 days after operation. The compression size of the femoral head on the coronal and axial planes of the CT scan was calculated for the compression volume. The compression severity was divided into small (<1 cm 3), medium (1-2 cm 3) and large (>2 cm 3) according to the volume. Binary Logistic regression analysis was used to analyze whether the postoperative measurement of the femoral head compression volume was associated with the risk of surgical failure. Results:All patients were followed up for 34.7±8.9 months (range 25-54 months). There were 7 cases with large compression of femoral head, 14 cases with medium, and 15 cases with small pre-operatively. However, there were 12 cases, 10 cases and 14 cases with large, medium and small at 2-5 days after operation, respectively. Six cases were excellent reduction, 22 cases were good, and 8 cases were poor. Thus, the excellent and good rate was 78% (28/36). At the last follow-up, Merle d'Aubigné score was excellent in 2 cases, good in 8 cases, fair in 5 cases, and poor in 21 cases. The excellent and good rate was 28% (10/36). There were 20 cases with surgery failure with 56% (20/36) failure rate. There were no statistically significant differences in the patient's age, body mass index, operation duration, blood volume, fracture type, fracture reduction, combined acetabular joint surface compression, and combined joint dislocation between the two groups. However, there was a statistically significant difference in the frequency distribution of compression volume in the weight-bearing area of the femoral head after surgery (χ 2=22.047, P<0.001). In patients with large, medium, and small-volume compression of the femoral head weight-bearing area, the surgery failure rates were 92%, 80%, and 7%, respectively. The large and medium-volume compression of the femoral head weight-bearing area were independent risk factors for surgical failure. Conclusion:Open reduction and internal fixation can be used to treat elderly patients with acetabular fractures combined with femoral head compression injury. Despite satisfactory reduction for acetabular fractures, the larger volume of femoral head compression affects the clinical outcomes with extremely high rate of surgical failure within 2 years.

Fruit cracking is a common physiological disease. Many fruits such as tomato, sweet cherry, apple, jujube, pomegranate, and litchi are liable to crack, causing considerable economic loss and agricultural resources waste. The mechanisms of fruit cracking are comprehensive. Some correlations have been observed between susceptibility of fruit cracking and some fruit traits (genetic, fruit size, fruit shape, fruit growth rate, water content, fruit skin characteristics, related gene expression, etc). Also, environmental condition (temperature, light, rainfall, etc) and orchard management (irrigation, sun-shade, mineral, growth regulator, etc) can influence fruit cracking. Here, progress in studies on fruit cracking is reviewed to provide a reference for prevention and control of fruit cracking.
Fruit ; Litchi ; Lycopersicon esculentum

The environmental gas concentration affects the storage period and quality of fruits and vegetables. High concentration CO₂ treating for a long time will cause damage to fruits, However, the specific molecular mechanism is unclear. To analyze the mechanism of CO₂ injury in apple, high-throughput sequencing technology of Illumina Hiseq 4000 and non-targeted metabolism technology were used to analyze the transcriptome sequencing and metabolomics analysis of browning flesh tissue of damage fruit and normal pulp tissue of the control group. A total of 6 332 differentially expressed genes were obtained, including 4 187 up-regulated genes and 2 145 down regulated genes. Functional analysis of the differentially expressed genes confirmed that the occurrence of CO₂ injury in apple was related to redox process, lipid metabolism, hormone signal transduction process and energy metabolism process. Twenty candidate browning genes were successfully screened, among which grxcr1 (md14g1137800) and gpx (md06g1081300) participated in the reactive oxygen species scavenging process, and pld1_ 2 (md15g1125000) and plcd (md07g1221900) participated in phospholipid acid synthesis and affected membrane metabolism. mdh1 (md05g1238800) participated in TCA cycle and affected energy metabolism. A total of 77 differential metabolites were obtained by metabolomic analysis, mainly organic acids, lipids, sugars and polyketones, including 35 metabolites related to browning. The metabolism of flavonoids was involved in the browning process of apple. Compared with the control tissue, the content of flavonoids such as catechin and quercetin decreased significantly in the damaged apple tissue, the antioxidant capacity of cells decreased, the redox state was unbalanced, and the cell structure was destroyed, resulting in browning. The results of this study further enrich the theoretical basis of CO₂ damage, and provide reference for the practical application of high concentration CO₂ preservation technology.
Carbon Dioxide ; Fruit ; Gene Expression Regulation, Plant ; Malus/genetics* ; Metabolome ; Transcriptome