Hepatic angiomyolipoma （HAML） is a rare benign mesenchymal tumor frequently observed in middle-aged women. Due to the absence of prominent symptoms in the early stage and the lack of specific imaging findings， the diagnosis of this disease can be challenging， leading to a high rate of misdiagnosis. This article reports a case of giant HAML with subcapsular rupture that was misdiagnosed as hepatocellular carcinoma and introduces the characteristics of the case and its diagnosis and treatment process， in order to provide a reference for the diagnosis and treatment of this type of disease.

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.
Humans ; Deafness/genetics* ; Hearing Loss, Sensorineural/diagnosis* ; Phenotype ; Metabolic Diseases/genetics* ; Genetic Counseling

Objective : To investigate the effect and mechanism of ARRB1 on Armillariella tabescens polysaccharides reversal of 5-fluorouracil ( 5-FU ) -induced chemotherapeutic intestinal mucosal injury． Methods : Twelve ARRB1 knockout ( ARRB1 －/ － ) and wild-type ( WT) C57BL /6 mice were randomly divided into Control，Model and ATPS groups (200 mg / kg) ，respectively．5-FU (50 mg / kg) was injected intraperitoneally for 7 days to establish a model of chemotherapeutic intestinal mucosal injury．The histopathological damage of jejunum was evaluated by HE staining ; the activity of serum superoxide dismutase (SOD) and diamine oxidase (DAO) was measured by kits ; the expression of tight junction protein (TJ) markers ZO-1，Occludin，Claudin-1 and proliferation-associated protein Ki-67 was detected by immunohistochemistry．Crypt isolation and organoid culture were used to detect the growth status of small intestinal organoids. Results : 5-FU chemotherapy reduced body weight，aggravated histopathological damage in small intestine，decreased SOD level，TJ protein and Ki-67 protein expression，increased serum DAO level，decreased spherical structure formation rate and organoid formation rate ; compared with the model group，after ATPS treatment，WT mice recovered body weight，decreased pathological damage，increased serum SOD level，TJ protein and Ki-67 protein expression，DAO levels decreased，and the rates of spherical structure for- mation and organoid formation were significantly higher．However，ARRB1 －/ － mice failed to reverse the effect of 5- FU after ATPS treatment． Conclusion ATPS reverses 5-FU-induced intestinal mucositis through the protective effects of ARRB1 on intestinal barrier and organoid growth.

Objective: To investigate the reversal effect of cinobufagin ( CINO) combined with 5-fluorouracil (5- FU) on human colorectal cancer ( CRC) drug-resistant cell line HCT15 /5-FU，and to clarify the regulatory role of hypoxia-inducible factor-1α (HIF-1 α) / vascular endothelial growth factor (VEGF) pathway in reversing chemoresistance of colorectal cancer． Methods : MTT assay was used to detect the changes of drug resistance and drug resistance index，flow cytometry was used to evaluate the apoptosis of cells ，scratch test and Transwell assay were used to detect the changes of cell migration and invasion ability．Western blot was used to detect the expressions of epithelial-mesenchymal transition (EMT) related proteins and HIF-1 α/ VEGF pathway-related proteins. Results: Compared with HCT15 cells，the resistance index of HCT15 /5-FU was about 8. 720． CINO combined with 5-FU could significantly enhance the drug sensitivity of HCT15 /5-FU cells，reduce drug resistance index，up-regulate the level of apoptosis，and inhibit cell migration and invasion in a dose-dependent manner．Western blot results showed that CINO combined with 5-FU could inhibit the activity of EMT and HIF-1 α/ VEGF pathway． Conclusion CINO can reverse 5-FU resistance of colorectal cancer in vitro，and its mechanism may be related to the regulation of the HIF-1 α/ VEGF pathway and the inhibition of EMT and angiogenesis.

Objective:To investigate the safety and efficacy of ultrasound-guided percutaneous radiofrequency ablation in the treatment of nonmetastatic pheochromocytoma.Methods:A retrospective analysis was performed on 7 patients with nonmetastatic pheochromocytoma admitted to the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2020, all of whom underwent ultrasound-guided percutaneous radiofrequency ablation. The changes of postoperative blood pressure, improvement of symptoms, intraoperative and postoperative complications were observed.Plasma free methoxypinephrine (MN) and normetanephrine (NMN) levels were recorded before and 2 weeks after operation. The reduction rate of ablation lesion volume at 1, 3 and 6 months after operation was calculated.Results:Postoperative blood pressure of all 7 patients was reduced to the normal range within 3 days, and symptoms such as headache were significantly relieved immediately after operation.No serious complications occurred during or after operation. Plasma free MN and NMN levels decreased to normal levels 2 weeks after operation. The mean reduction rates of the ablation lesions at 1, 3 and 6 months after operation were (46.61±13.42)%, (67.21±10.54)% and (85.73±4.15)%, respectively. Postoperative follow-up of 12-30 months showed that the blood pressure, plasma free MN and NMN levels of the patients were all in the normal range, and no symptoms such as headache and palpitation occurred again. All the tumors were completely ablated, and no recurrence was observed.Conclusions:Ultrasound-guided percutaneous radiofrequency ablation in the treatment of nonmetastatic pheochromocytoma is minimally invasive, safe and effective, and can retain adrenal cortex function, which is worthy of clinical promotion.

OBJECTIVE: Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient. METHODS: The peripheral blood of the patient was cultured for high-resolution chromosome G and C banding karyotype analysis, and then 750K SNP-Array chip detection was performed. RESULTS: Karyotype analysis results showed that the patient's karyotype was 45,XX,-13 [7]/46,XX,r(13) (p13q34) [185]/46,XX,dic r(13;13)(p13q34;p13q34) [14]/ 47,XX,+der(13;13;13;13) (p13q34;p13q34;p13q34; p13q34), dic r(13;13) [1]/ 46,XX [3]. The microarray results showed that the patient had a 3.3 Mb deletion in the 13q34 segment of chromosome 13, which may be related to infertility. CONCLUSION Infertility of the patient reported in this article may be related to the deletion of chromosome segment (13q34-qter).
Adult ; Chimera ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Dacarbazine ; Female ; Humans ; Infertility/genetics* ; Ring Chromosomes

OBJECTIVE: To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions. METHODS: Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis. Genetic counseling and prenatal diagnosis were provided for 3 women carrying the premutations. RESULTS: The carrier rate of CGG repeats of the FMR1 gene was 1 in 178 for the intermediate type and 1 in 772 for the premutation types. The highest frequency allele of CGG was 29 repeats, which accounted for 49.29%, followed by 30 repeats (28.56%) and 36 repeats (8.83%). In case 1, the fetus had a karyotype of 45,X, in addition with premutation type of CGG expansion of the FMR1 gene. Following genetic counseling, the couple chose to terminate the pregnancy through induced labor. The numbers of CGG repeats were respectively 70/- and 29/30 for the husband and wife. In case 2, amniocentesis was performed at 20 weeks of gestation. The number of CGG repeats of the FMR1 gene was 29/-. No abnormality was found in the fetal karyotype and chromosomal copy number variations. The couple chose to continue with the pregnancy. Case 3 refused prenatal diagnosis after genetic counseling and gave birth to a girl at full term, who had a birth weight of 2440 g and no obvious abnormality found during follow-up. CONCLUSION Pregnant women should be screened for FMR1 gene mutations during early and middle pregnancy, and those with high-risk CGG expansions should undergo prenatal diagnosis, genetic counseling and family study.
DNA Copy Number Variations ; Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Genetic Counseling ; Humans ; Mutation ; Pregnancy ; Trinucleotide Repeat Expansion ; Trinucleotide Repeats

Objective:To investigate the relationship between painful tonic spasm (PTS) and spinal cord injury in patients with neuromyelitis optica spectrum disorder (NMOSD).Methods:The clinical data, serum AQP4-IgG antibody levels and magnetic resonance data of 138 patients with NMOSD were analyzed. Those with spinal cord involvement were assessed using the American Spinal Injury Association Impairment Scale (AIS) to investigate the relationship between PTS and spinal cord injury.Results:The prevalence of PTS among the NMOSD patients was 36% (51/138), and all of the 51 NMOSD patients with PTS showed spinal cord lesions, an incidence significantly different from those without PTS. However, there were no significant differences in the age of onset, gender, disease duration, AQP4-IgG levels, lesion location, range of spinal cord lesions, or AIS grade between the NMOSD patients with and without PTS.Conclusion:PTS is a prevalent concomitant of NMOSD. As a common symptom of remission and recurrent remission, PTS is associated with myelopathy. This study failed to find any correlation between PTS and the affected spinal cord site or segment range. There was also no correlation between PTS and AIS grading among these subjects.

Acute-on-chronic liver failure (ACLF) is the most common type of liver failure.Although artificial liver support systems and liver transplantation provide a favorable means for the treatment of liver failure, the mortality rate of liver failure remains high.At present, liver failure is a hot spot and a difficult point in clinical diagnosis and treatment, and liver failure does bring a great economic burden to society and families.This article reviews the definition, pathogenesis, prognosis and treatment of chronic acute liver failure.

OBJECTIVE: To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease. METHODS: Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing. RESULTS: The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic. CONCLUSION PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.
DNA Mutational Analysis ; Female ; Genetic Counseling ; Humans ; Mutation ; Pedigree ; Polycystic Kidney Diseases ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis ; Receptors, Cell Surface ; drug effects