1.Retrospective study on the impact of penile corpus cavernosum injection test on pe-nile vascular function
Yan CHEN ; Kuangmeng LI ; Kai HONG ; Shudong ZHANG ; Jianxing CHENG ; Zhongjie ZHENG ; Wenhao TANG ; Lianming ZHAO ; Haitao ZHANG ; Hui JIANG ; Haocheng LIN
Journal of Peking University(Health Sciences) 2024;56(4):680-686
Objective:To investigate the impact of age,various hormonal levels,and biochemical markers on penile cavernous body vascular function in patients with erectile dysfunction(ED).Me-thods:A retrospective analysis of clinical data from male patients with ED who underwent color duplex Doppler ultrasonography(CDDU)and intracavernosal injection test(ICI)at the Reproductive Medicine Center of Peking University Third Hospital from January 2020 to August 2023.Data were managed and processed using SPSS 29.0,and a multivariable Logistic regression analysis was conducted.Results:A total of 700 ED patients were included,with 380 showing negative ICI results and 320 positive.In the study,84 patients had a peak systolic velocity(PSV)<25 cm/s,while 616 had PSV ≥ 25 cm/s;202 patients had end-diastolic velocity(EDV)>5 cm/s,and 498 had EDV ≤5 cm/s.264 patients had ab-normal PSV and/or EDV results,and 436 had normal results for both.Patients with vascular ED had sig-nificantly lower estrogen levels(t=-3.546,P<0.001),lower testosterone levels(t=-2.089,P=0.037),and a higher rate of hyperglycemia(x2=12.772,P=0.002)compared with those with non-vascular ED.The patients with arterial ED were older(t=3.953,P<0.001),had a higher rate of hyperglycemia(x2=9.518,P=0.009),and a higher estrogen/testosterone ratio(t=2.330,P=0.020)compared with those with non-arterial ED.The patients with mixed arteriovenous ED had higher age(t=3.567,P<0.001),lower testosterone levels(t=-2.288,P=0.022),a higher rate of hyperglycemia(x2=12.877,P=0.002),and a larger estrogen/testosterone ratio(t=2.096,P=0.037)compared with those with normal findings.Multifactorial Logistic regression analysis indicated that higher levels of estrogen were a protective factor for vascular ED(OR=1.009,95%CI:1.004-1.014),and glucose 7.0 mmol/L was a risk factor(OR=0.381,95%CI:0.219-0.661).Older age was a risk factor for arte-rial ED(OR=0.960,95%CI:0.938-0.982).Additionally,older age(OR=0.976,95%CI:0.958-0.993)and glucose levels of 5.6-6.9 mmol/L(OR=0.591,95%CI:0.399-0.876)were also risk fac-tors for mixed arterio-venous ED.Conclusion:Hyperglycemia and aging may impair penile cavernous body vascular function,while higher levels of estrogen may have a protective effect on it.
2.Analysis of factors affecting the success rate of microsperm extraction in patients with idiopathic non-obstructive azoospermia
Zixuan XUE ; Yangyi FANG ; Jiayuan PAN ; Zhigao HUANG ; Yanlin TANG ; Li ZHANG ; Haitao ZHANG ; Wenhao TANG ; Defeng LIU ; Jiaming MAO ; Haocheng LIN ; Lianming ZHAO ; Zhe ZHANG ; Kai HONG
Chinese Journal of Urology 2024;45(12):932-939
Objective:This study aims to investigate the determinants influencing the efficacy of microsurgical sperm retrieval in individuals diagnosed with idiopathic non-obstructive azoospermia (iNOA).Methods:A retrospective analysis was performed on the clinical data of 757 patients diagnosed with iNOA who underwent microsurgical sperm extraction at Peking University Third Hospital between January 2019 and December 2021. The median age of patients was 31(29, 33)years, and the duration of infertility was 3(2, 5)years. A total of 169 patients (22.3%) received preoperative pharmacological treatment with agents such as follicle-stimulating hormone, human chorionic gonadotropin, or aromatase inhibitors. Additionally, 327 patients (43.2%) underwent testicular biopsy (TESA) prior to surgery. Among these, 51 cases (15.9%) exhibited sperm presence on smear microscopy, while 57 cases (17.8%) demonstrated sperm presence on pathological examination. The pathological classifications of the biopsies included 102 cases (31.9%) of reduced spermatogenic function, 66 cases (20.6%) of delayed sperm maturation, and 63 cases (19.7%) of sertoli cell-only syndrome.Preoperative median pituitary prolactin(PRL)was 9.1(6.5, 12.5)ng/ml, follicle-stimulating hormone (FSH)20.1(14.2, 28.5)U/L, luteinizing hormone (LH)7.9(5.5, 11.3)U/L, testosterone(T)117 .0(81.3, 154.0)nmol/L, estradiol(E2)8.7(6.3, 11.8)pmol/L. Under general anesthesia, patients underwent microsurgical testicular incision for sperm retrieval.The surgical testicular volume was measured at a median of 6(5, 10) ml. Among the cases studied, 59 patients (7.7%) underwent left testicular surgery, 213 patients (28.1%) underwent right testicular surgery, and 485 patients (64.0%) underwent bilateral testicular surgery. Furthermore, 44 patients (5.8%) underwent a second microsurgical sperm retrieval procedure, while 4 patients (0.5%) underwent a third procedure.Based on the presence of sperm identified during the surgical procedure, participants were categorized into a sperm retrieval group and a non-sperm retrieval group. Clinical data of these two groups were analyzed. A subgroup analysis was performed on the observed indicators. Both univariate and multivariate logistic regression analyses were employed to examine the factors influencing the micro sperm retrieval rate.Results:Among the 757 iNOA patients, 255(33.7%) obtained sperm through micro sperm retrieval, while 502(66.3%) did not obtain sperm through micro sperm retrieval. The age of sperm-receiving group was higher than that of the non-sperm-receiving group [32(30, 35)years vs. 30(28, 33)years, P<0.01], and the course of infertility was longer than that of the non-sperm-receiving group [3.0(2.0, 5.5)years vs. 3.0(2.0, 4.0)years, P=0.004]. There was no significant difference in the sperm acquisition rate in the subgroup with or without preoperative drug treatment [38.5%(65/169)vs. 32.7%(185/566), P=0.164]. There was statistical significance in the sperm collection rate of different TESA results in subgroups [85.7%(24/28)of sperm were detected by microscopic smear and pathological examination and 75.9%(22/29)of sperm were detected by pathological examination and no sperm were detected by microscopic smear and 17% of sperm were not detected by microscopic smear and pathological examination (42/247), P<0.01). The rate of spermatogenesis in the subgroup with low spermatogenic function was significantly higher than that in the subgroup with spermatogenic maturation retardation and sercell-only syndrome [47.1%(48/112), 12.1%(8/66)vs. 11.1%(7/63), P<0.01]. There was no significant difference in testicular volume between the seminal and non-seminal groups [6.0(5.0, 10.0)ml vs. 6.0(5.0, 9.5)ml, P=0.862]. Pituitary prolactin [8.3(5.8, 12.0)ng/ml vs. 9.3(7.5, 13.0)ng/ml, P=0.001] and FSH[18.3(11.8, 27.4)U/L vs. 20.7(15.2, 28.7)U/L, P=0.005] in spermated group were lower than those in non-spermated group. Luteinizing hormone [7.6(5.1, 11.0)U/L vs. 8.0(5.6, 11.5)U/L, P=0.126], testosterone [8.8(6.0, 11.8)nmol/L vs. 8.7(6.4, 11.7)nmol/L, P=0.607], estradiol [124.0(87.8, 156.0)nmol/L vs. 114.5(79.9, 151.3)nmol/L, P=0.105] had no significant difference. The recovery rate of the first operation was higher than that of the second operation [97.7%(43/44)vs. 81.8%(36/42), P=0.032]. The sperm retrieval rate of bilateral operation was significantly lower than that of unilateral operation [6.0% bilateral (29/485)vs. 86.4% left (51/59)vs. 82.2% right (175/213), P<0.01]. The proportion of no sperm on one side of bilateral operation and only 4.7%(23/485)on the opposite side were obtained. The results of multivariate analysis showed that >30 and ≤40 years old subgroup ( OR=2.226, 95% CI 1.364-3.632, P=0.001), >40 and ≤50 years old subgroup ( OR=4.282, 95% CI 1.457-12.588, P=0.008)was higher than that of >20 and ≤30 years old subgroup. The sperm acquisition rate of the sperm subgroup was significantly increased by smear microscopy and pathological examination ( OR=6.486, 95% Cl 1.444-29.127, P=0.015), while the sperm acquisition rate of the sperm subgroup was not significantly decreased by smear microscopy and pathological examination ( OR=0.420, 95% Cl 0.200-0.881, P=0.022). The pathological type of puncture was associated with lower spermatogenesis maturation block ( OR=0.099, 95% CI 0.019-0.509, P=0.006). Higher FSH (>7.6 U/L)was associated with lower sperm yield ( OR=0.324, 95% CI 0.122-0.856, P=0.023). Conclusions:Age, FSH level, results of testicular biopsy and pathologic type of biopsy are independent factors affecting the sperm retrieval rate of iNOA patients undergoing micro-TESE. The success rate of sperm retrieval diminished following multiple surgical procedures. Furthermore, for patients who did not have sperm successfully retrieved from one side, that the likelihood of sperm retrieval from contralateral surgery would also be low.
3.Analysis of factors affecting the success rate of microsperm extraction in patients with idiopathic non-obstructive azoospermia
Zixuan XUE ; Yangyi FANG ; Jiayuan PAN ; Zhigao HUANG ; Yanlin TANG ; Li ZHANG ; Haitao ZHANG ; Wenhao TANG ; Defeng LIU ; Jiaming MAO ; Haocheng LIN ; Lianming ZHAO ; Zhe ZHANG ; Kai HONG
Chinese Journal of Urology 2024;45(12):932-939
Objective:This study aims to investigate the determinants influencing the efficacy of microsurgical sperm retrieval in individuals diagnosed with idiopathic non-obstructive azoospermia (iNOA).Methods:A retrospective analysis was performed on the clinical data of 757 patients diagnosed with iNOA who underwent microsurgical sperm extraction at Peking University Third Hospital between January 2019 and December 2021. The median age of patients was 31(29, 33)years, and the duration of infertility was 3(2, 5)years. A total of 169 patients (22.3%) received preoperative pharmacological treatment with agents such as follicle-stimulating hormone, human chorionic gonadotropin, or aromatase inhibitors. Additionally, 327 patients (43.2%) underwent testicular biopsy (TESA) prior to surgery. Among these, 51 cases (15.9%) exhibited sperm presence on smear microscopy, while 57 cases (17.8%) demonstrated sperm presence on pathological examination. The pathological classifications of the biopsies included 102 cases (31.9%) of reduced spermatogenic function, 66 cases (20.6%) of delayed sperm maturation, and 63 cases (19.7%) of sertoli cell-only syndrome.Preoperative median pituitary prolactin(PRL)was 9.1(6.5, 12.5)ng/ml, follicle-stimulating hormone (FSH)20.1(14.2, 28.5)U/L, luteinizing hormone (LH)7.9(5.5, 11.3)U/L, testosterone(T)117 .0(81.3, 154.0)nmol/L, estradiol(E2)8.7(6.3, 11.8)pmol/L. Under general anesthesia, patients underwent microsurgical testicular incision for sperm retrieval.The surgical testicular volume was measured at a median of 6(5, 10) ml. Among the cases studied, 59 patients (7.7%) underwent left testicular surgery, 213 patients (28.1%) underwent right testicular surgery, and 485 patients (64.0%) underwent bilateral testicular surgery. Furthermore, 44 patients (5.8%) underwent a second microsurgical sperm retrieval procedure, while 4 patients (0.5%) underwent a third procedure.Based on the presence of sperm identified during the surgical procedure, participants were categorized into a sperm retrieval group and a non-sperm retrieval group. Clinical data of these two groups were analyzed. A subgroup analysis was performed on the observed indicators. Both univariate and multivariate logistic regression analyses were employed to examine the factors influencing the micro sperm retrieval rate.Results:Among the 757 iNOA patients, 255(33.7%) obtained sperm through micro sperm retrieval, while 502(66.3%) did not obtain sperm through micro sperm retrieval. The age of sperm-receiving group was higher than that of the non-sperm-receiving group [32(30, 35)years vs. 30(28, 33)years, P<0.01], and the course of infertility was longer than that of the non-sperm-receiving group [3.0(2.0, 5.5)years vs. 3.0(2.0, 4.0)years, P=0.004]. There was no significant difference in the sperm acquisition rate in the subgroup with or without preoperative drug treatment [38.5%(65/169)vs. 32.7%(185/566), P=0.164]. There was statistical significance in the sperm collection rate of different TESA results in subgroups [85.7%(24/28)of sperm were detected by microscopic smear and pathological examination and 75.9%(22/29)of sperm were detected by pathological examination and no sperm were detected by microscopic smear and 17% of sperm were not detected by microscopic smear and pathological examination (42/247), P<0.01). The rate of spermatogenesis in the subgroup with low spermatogenic function was significantly higher than that in the subgroup with spermatogenic maturation retardation and sercell-only syndrome [47.1%(48/112), 12.1%(8/66)vs. 11.1%(7/63), P<0.01]. There was no significant difference in testicular volume between the seminal and non-seminal groups [6.0(5.0, 10.0)ml vs. 6.0(5.0, 9.5)ml, P=0.862]. Pituitary prolactin [8.3(5.8, 12.0)ng/ml vs. 9.3(7.5, 13.0)ng/ml, P=0.001] and FSH[18.3(11.8, 27.4)U/L vs. 20.7(15.2, 28.7)U/L, P=0.005] in spermated group were lower than those in non-spermated group. Luteinizing hormone [7.6(5.1, 11.0)U/L vs. 8.0(5.6, 11.5)U/L, P=0.126], testosterone [8.8(6.0, 11.8)nmol/L vs. 8.7(6.4, 11.7)nmol/L, P=0.607], estradiol [124.0(87.8, 156.0)nmol/L vs. 114.5(79.9, 151.3)nmol/L, P=0.105] had no significant difference. The recovery rate of the first operation was higher than that of the second operation [97.7%(43/44)vs. 81.8%(36/42), P=0.032]. The sperm retrieval rate of bilateral operation was significantly lower than that of unilateral operation [6.0% bilateral (29/485)vs. 86.4% left (51/59)vs. 82.2% right (175/213), P<0.01]. The proportion of no sperm on one side of bilateral operation and only 4.7%(23/485)on the opposite side were obtained. The results of multivariate analysis showed that >30 and ≤40 years old subgroup ( OR=2.226, 95% CI 1.364-3.632, P=0.001), >40 and ≤50 years old subgroup ( OR=4.282, 95% CI 1.457-12.588, P=0.008)was higher than that of >20 and ≤30 years old subgroup. The sperm acquisition rate of the sperm subgroup was significantly increased by smear microscopy and pathological examination ( OR=6.486, 95% Cl 1.444-29.127, P=0.015), while the sperm acquisition rate of the sperm subgroup was not significantly decreased by smear microscopy and pathological examination ( OR=0.420, 95% Cl 0.200-0.881, P=0.022). The pathological type of puncture was associated with lower spermatogenesis maturation block ( OR=0.099, 95% CI 0.019-0.509, P=0.006). Higher FSH (>7.6 U/L)was associated with lower sperm yield ( OR=0.324, 95% CI 0.122-0.856, P=0.023). Conclusions:Age, FSH level, results of testicular biopsy and pathologic type of biopsy are independent factors affecting the sperm retrieval rate of iNOA patients undergoing micro-TESE. The success rate of sperm retrieval diminished following multiple surgical procedures. Furthermore, for patients who did not have sperm successfully retrieved from one side, that the likelihood of sperm retrieval from contralateral surgery would also be low.
4.Relationship between serum reproductive hormones and sperm parameters and surgical outcomes in Micro-TESE
Chenyao DENG ; Defeng LIU ; Wenhao TANG ; Lianming ZHAO ; Haocheng LIN ; Jiaming MAO ; Zhe ZHANG ; Yuzhuo YANG ; Haitao ZHANG ; Hui JIANG ; Kai HONG
Journal of Modern Urology 2023;28(12):1032-1037
【Objective】 To investigate the relationship between serum reproductive hormones and sperm parameters and outcomes of micro-testicular sperm extraction (Micro-TESE). 【Methods】 Clinical data of 1 091 patients treated in our hospital during Jan. and Dec.2021 were retrospectively analyzed. According to the sperm concentration,the patients were divided into non-obstructive azoospermia (NOA) group (group A,n=418),normal sperm concentration group (group B,n=615),mild to moderate oligospermia group (group C,n=18),severe oligospermia group (group D,n=18),and obstructive azoospermia group (group E,n=22). In group A,244 cases treated with Micro-TESE were grouped into the sperm-acquired group (Micro-TESE positive group,n=82) and non-sperm-acquired group (Micro-TESE negative group,n=162),and according to the pathological types of testicular tissue,the patients were divided into normal testicular tissue with hypospermatogenesis group (HYPO group,n=129),maturation arrest group (MA group,n=10),and support-only cell syndrome group (SCO group,n=122). Differences in semen parameters and reproductive hormone levels were compared,and relationship between reproductive hormones and sperm parameters and Micro-TESE outcomes was determined with Pearson correlation analysis. 【Results】 In the sperm concentration subgroup,the testicular volume of group A was lower than that of group B and group E (P<0.05); the levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH) in group A were the highest (P<0.05),but the level of testosterone (T) was the lowest (P<0.05); the levels of anti-mullerian hormone (AMH) and serum inhibin B (INHB) in group A were lower than those in group B and group E (P<0.05),the normal sperm morphology rate in group B was higher than that in group A and group E (P<0.05); the percentage of forward moving sperm in group B was the highest (P<0.05). Pearson correlation analysis revealed that sperm concentration,normal sperm morphology rate,and percentage of forward moving sperm were negatively correlated with age,FSH,LH (P<0.05),and positively correlated with testicular volume,T,AMH,and INHB (P<0.05). NOA patients were grouped according to testicular histology and pathology. The INHB in the SCO group was the smallest of the three groups (P<0.05); the FSH and LH levels in the SCO group were higher than those in the MA group (P<0.05),while the 17β-estradiol (E
5.Analysis of clinical outcome of asynchronous micro-TESE and ICSI in patients with non-obstructive aoospermia caused by AZFc deletion
Jiaming MAO ; Defeng LIU ; Lianming ZHAO ; Haocheng LIN ; Zhe ZHANG ; Yuzhuo YANG ; Haitao ZHANG ; Kai HONG ; Rong LI ; Hui JIANG
Chinese Journal of Reproduction and Contraception 2023;43(9):944-948
Objective:To evaluate the therapeutic effect of micro-dissection testicular extraction (micro-TESE) combined with intracytoplasmic sperm injection (ICSI) technology, and guide the clinical treatment of non-obstructive azoospermia (NOA) with azoospermia factor (AZF) c-region deletion.Methods:Through retrospective study, the clinical data of NOA patients with AZFc deletion were analyzed who underwent asynchronous micro-TESE in Reproductive Medicine Centre of Peking University Third Hospital from January 2015 to December 2019. The clinical outcomes of ICSI in patients who successfully obtained sperm were followed up, including fertilization rate, good-quality embryo rate, clinical pregnancy rate, abortion rate and live birth rate.Results:A total of 47 patients with NOA caused by AZFc deletion underwent asynchronous micro-TESE and 28 cases successfully found spermatozoa during the operation. The sperm retrieval rate (SRR) was 59.6% (28/47). Totally 25 cases cryopreserved testicular spermatozoa and 15 cases underwent thawed-sperm ICSI and 14 of them found enough spermatozoa for ICSI. Among the 28 patients who successfully found sperm during the first micro-TESE operation, 14 gave up the use of sperm and another 14 later used the thawed sperm for ICSI. A total of 14 cryopreserved sperm ICSI cycles were carried out, followed by 11 embryo transfer cycles. Only one patient successfully gave birth to one health boy. After that 11 patients underwent the second synchronous micro-TESE and spermatozoa were all successfully found during the operation. Eleven cycles used fresh sperm for ICSI followed by 11 embryo transfer cycles. Finally, 3 patients successfully gave birth to 1 boy and 2 girls.Conclusion:Patients of NOA caused by AZFc deletion have a high probability of successfully obtaining spermatozoa in testis through micro-TESE for ICSI to breed offspring with their own biological characteristics. For patients failed in the first asynchronous procedure, the second synchronous micro-TESE with fresh spermatozoa for ICSI can be considered to improve the utilization rate of sperm and the final live birth rate.
6.Analysis of clinical outcome of asynchronous micro-TESE and ICSI in patients with non-obstructive aoospermia caused by AZFc deletion
Jiaming MAO ; Defeng LIU ; Lianming ZHAO ; Haocheng LIN ; Zhe ZHANG ; Yuzhuo YANG ; Haitao ZHANG ; Kai HONG ; Rong LI ; Hui JIANG
Chinese Journal of Reproduction and Contraception 2023;43(9):944-948
Objective:To evaluate the therapeutic effect of micro-dissection testicular extraction (micro-TESE) combined with intracytoplasmic sperm injection (ICSI) technology, and guide the clinical treatment of non-obstructive azoospermia (NOA) with azoospermia factor (AZF) c-region deletion.Methods:Through retrospective study, the clinical data of NOA patients with AZFc deletion were analyzed who underwent asynchronous micro-TESE in Reproductive Medicine Centre of Peking University Third Hospital from January 2015 to December 2019. The clinical outcomes of ICSI in patients who successfully obtained sperm were followed up, including fertilization rate, good-quality embryo rate, clinical pregnancy rate, abortion rate and live birth rate.Results:A total of 47 patients with NOA caused by AZFc deletion underwent asynchronous micro-TESE and 28 cases successfully found spermatozoa during the operation. The sperm retrieval rate (SRR) was 59.6% (28/47). Totally 25 cases cryopreserved testicular spermatozoa and 15 cases underwent thawed-sperm ICSI and 14 of them found enough spermatozoa for ICSI. Among the 28 patients who successfully found sperm during the first micro-TESE operation, 14 gave up the use of sperm and another 14 later used the thawed sperm for ICSI. A total of 14 cryopreserved sperm ICSI cycles were carried out, followed by 11 embryo transfer cycles. Only one patient successfully gave birth to one health boy. After that 11 patients underwent the second synchronous micro-TESE and spermatozoa were all successfully found during the operation. Eleven cycles used fresh sperm for ICSI followed by 11 embryo transfer cycles. Finally, 3 patients successfully gave birth to 1 boy and 2 girls.Conclusion:Patients of NOA caused by AZFc deletion have a high probability of successfully obtaining spermatozoa in testis through micro-TESE for ICSI to breed offspring with their own biological characteristics. For patients failed in the first asynchronous procedure, the second synchronous micro-TESE with fresh spermatozoa for ICSI can be considered to improve the utilization rate of sperm and the final live birth rate.
7.Study on TYR gene variant from a pedigree with oculocutaneous albinism.
Yingzhen ZHANG ; Caihong JIN ; Min GUO ; Duofu LI ; Lianming CHAI ; Yang WU ; Donglu LI
Chinese Journal of Medical Genetics 2021;38(9):833-837
OBJECTIVE:
To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA).
METHODS:
Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism patients from this pedigree were analyzed.
RESULTS:
Sequencing results showed that the proband's TYR gene (NM_000372) has c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) compound heterozygous variants. The proband's father carries c.230G>A heterozygous variant, and the mother carries c.120_121insG heterozygous variant, indicating that the proband's two variants are from his father and mother. The former is a known missense variant, which can cause abnormal or loss of the original function of the protein polypeptide chain. The latter c.120_121insG(p.Asp42GlyfsTer35) is an unreported frameshift variant of the TYR gene subregion (EX1; CDS1). PolyPhen-2, SIFT, MutationTaster and FATHMM predictions are all prompted as "harmful variants". This variant caused the amino acid encoded protein to terminate prematurely, producing a truncated protein, which eventually formed a 76-amino acid short-type TYR protein instead of the 529-amino acid wild-type TYR protein. Through the pedigree analysis, the four patients in the pedigree are all of the same type of compound heterozygous variants, and the disease-causing genes are all from the patient's parents. They belong to a special form of consanguineous marriage within 5 generations.
CONCLUSION
The compound heterozygous variants of c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) of the TYR gene may underlie the disease in this pedigree. The gene sequencing results enrich the variant spectrum of the TYR gene, and has facilitated molecular diagnosis for the patient.
Albinism, Oculocutaneous/genetics*
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Consanguinity
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Heterozygote
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Humans
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Mutation
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Pedigree
8.Comparison of high or low inferior mesenteric artery ligation in laparoscopic anterior resection of rectum based on CT precise guidance
Haiqing ZHANG ; Guangjun ZHANG ; Yuanzhou SHAN ; Zhongming HUANG ; Zhi YANG ; Lianming ZHOU
Chinese Journal of Postgraduates of Medicine 2021;44(11):1010-1014
Objective:To compare the advantages of high or low inferior mesenteric artery (IMA) ligation in laparoscopic anterior resection of rectum based on CT precise guidance.Methods:One hundred and twenty patients with rectal cancer who underwent laparoscopic anterior resection of rectum in Shanghai Sixth People′s Hospital South Campus from January 2016 to June 2020 were selected. Surgical protocol was selected according to the principle of voluntariness. Sixty-eight cases underwent high IMA ligation (high IMA ligation group), and 52 cases underwent low IMA ligation (low IMA ligation group). The perioperative conditions (operative time, intraoperative blood loss, postoperative anal exhaust time, abdominal drainage, hospitalization time and ileostomy), postoperative pathological data (proximal margin distance, distal margin distance, total number of dissected lymph nodes and number of positive lymph nodes) and postoperative recovery (anastomotic stoma fistula, urinary retention, sexual dysfunction and daily number of defecation) were recorded. The quality of life 6 months after surgery was evaluated by the quality of life instruments for colorectal cancer scale (QLQ-CR38). Patients were followed up for 6 to 36 months, and the local recurrence and distant metastasis were recorded.Results:The postoperative anal exhaust time in low IMA ligation group was significantly shorter than that in high IMA ligation group: (2.87 ± 1.04) d vs. (3.26 ± 1.00) d, and there was statistical difference ( P<0.05); there were no statistical differences in operative time, intraoperative blood loss, abdominal drainage, hospitalization time and rate of ileostomy between 2 groups ( P>0.05). There were no statistical difference in proximal margin distance, distal margin distance, total number of dissected lymph nodes and number of positive lymph nodes between 2 groups ( P>0.05). The incidences of anastomotic stoma fistula, urinary retention and sexual dysfunction in low IMA ligation group were significantly lower than those in high ligation group: 3.85% (2/52) vs. 13.24% (9/68), 3.85% (2/52) vs. 11.76% (8/68) and 5.77% (3/52) vs. 14.71% (10/68), the daily number of defecation was significantly less than that in high ligation group: (2.87 ± 0.98) times vs. (4.05 ± 1.56) times, and there were statistical differences ( P<0.05 or <0.01). The functional dimension, symptom dimension and aggregate score of QLQ-CR38 in low IMA ligation group were significantly higher than those in high ligation group: (15.46 ± 4.22) scores vs. (13.68 ± 3.56) scores, (51.82 ± 13.54) scores vs. (45.65 ± 12.42) scores and (67.28 ± 14.28) scores vs. (59.33 ± 12.85) scores, and there were statistical differences ( P<0.05 or <0.01). There were no statistical difference in the rates of local recurrence and distant metastasis between 2 groups ( P>0.05). Conclusions:The application of low IMA ligation based on CT precise guidance in laparoscopic anterior resection of rectum can obtain the same surgical effect as the high IMA ligation. It can promote the recovery of gastrointestinal function after surgery, reduce the risk of complications, have less effect on the defecation function, which can improve the life quality after the surgery.
9.Mechanism of hyperbaric oxygen alleviating cerebral infarction in rats via regulating miR-153-3p/Bcl-2 axis
Lan ZHANG ; Hui HAN ; Yanfeng ZHANG ; Jie GAO ; Lianming HUANG ; Wenying LI
Chinese journal of nautical medicine and hyperbaric medicine 2021;28(2):174-178
Objective:To explore the effect and mechanism of hyperbaric oxygen (HBO) in alleviating infarction cerebral in rats via regulating miR-153-3p/Bcl-2 axis.Methods:A total of 32 Sprague-Dawley rats were divided into sham operation group, model group, HBO group, and HBO + mimic group according to the random number table method, with 8 rats in each group. The rat cerebral model was established by middle cerebral artery occlusion (MCAO) method. After 48 hours of reperfusion, the rats were euthanized, and their hippocampal and cortical tissues were collected to assess the brain edema and nerve function damage. The TUNEL assay was used to observe the cell apoptosis in rat hippocampus and cortex. The RT-PCR test was used to detect the expression level of miR-153-3p in the rat brain tissue. The Western blotting test was adopted to detect the protein expression level of rat brain tissue. The ELISA was used to detect the level of inflammatory factor in the rat brain tissue. The luciferase reporter assay was used to detect the transcription activity of Bcl-2. The RT-PCR test was to detect the expression level of Bcl-2 mRNA in PC-12 cells.Results:Compared with the sham operation group, the expression level of miR-153-3p in the brain tissue of rats in the model group after MCAO treatment was significantly increased, and the expression level of miR-153-3p induced by MCAO was reduced after HBO treatment, but the expression level changing of miR-153-3p in the hyperbaric oxygen + mimic group was obviously reversed after the intervention of mimic-miR-153-3p, and the differences were all statistically significant ( P<0.05). Compared with the sham operation group, the neurological damage score and brain water content in the model group increased, and the score and content decreased after HBO treatment, but the effect of HBO was significantly mitigated after miR-153-5p overexpression; and the differences were all statistically significant ( P<0.05). Compared with the model group, the levels of IL-6, CRP, and TNF-α in the brain tissue of rats in the HBO group were significantly reduced, while the up-regulation of miR-153-3p increased the expression levels of IL-6, CRP, and TNF-α; and the differences were all statistically significant ( P<0.05). When the expression of miR-153-3p in rat PC-12 cells was up-regulated, the fluorescence and transcriptional activity of Bcl-2 were significantly reduced, the expression of miR-153-3p was up-regulated, and the level of Bcl-2 mRNA was reduced; the differences were all statistically significant ( P<0.05). Conclusion:Hyperbaric oxygen can relieve brain edema by improving the brain cell apoptosis and inflammatory reaction induced by MCAO via regulating the miR-153-3p/Bcl-2 axis.
10.Mechanism of hyperbaric oxygen alleviating cerebral infarction in rats via regulating miR-153-3p/Bcl-2 axis
Lan ZHANG ; Hui HAN ; Yanfeng ZHANG ; Jie GAO ; Lianming HUANG ; Wenying LI
Chinese journal of nautical medicine and hyperbaric medicine 2021;28(2):174-178
Objective:To explore the effect and mechanism of hyperbaric oxygen (HBO) in alleviating infarction cerebral in rats via regulating miR-153-3p/Bcl-2 axis.Methods:A total of 32 Sprague-Dawley rats were divided into sham operation group, model group, HBO group, and HBO + mimic group according to the random number table method, with 8 rats in each group. The rat cerebral model was established by middle cerebral artery occlusion (MCAO) method. After 48 hours of reperfusion, the rats were euthanized, and their hippocampal and cortical tissues were collected to assess the brain edema and nerve function damage. The TUNEL assay was used to observe the cell apoptosis in rat hippocampus and cortex. The RT-PCR test was used to detect the expression level of miR-153-3p in the rat brain tissue. The Western blotting test was adopted to detect the protein expression level of rat brain tissue. The ELISA was used to detect the level of inflammatory factor in the rat brain tissue. The luciferase reporter assay was used to detect the transcription activity of Bcl-2. The RT-PCR test was to detect the expression level of Bcl-2 mRNA in PC-12 cells.Results:Compared with the sham operation group, the expression level of miR-153-3p in the brain tissue of rats in the model group after MCAO treatment was significantly increased, and the expression level of miR-153-3p induced by MCAO was reduced after HBO treatment, but the expression level changing of miR-153-3p in the hyperbaric oxygen + mimic group was obviously reversed after the intervention of mimic-miR-153-3p, and the differences were all statistically significant ( P<0.05). Compared with the sham operation group, the neurological damage score and brain water content in the model group increased, and the score and content decreased after HBO treatment, but the effect of HBO was significantly mitigated after miR-153-5p overexpression; and the differences were all statistically significant ( P<0.05). Compared with the model group, the levels of IL-6, CRP, and TNF-α in the brain tissue of rats in the HBO group were significantly reduced, while the up-regulation of miR-153-3p increased the expression levels of IL-6, CRP, and TNF-α; and the differences were all statistically significant ( P<0.05). When the expression of miR-153-3p in rat PC-12 cells was up-regulated, the fluorescence and transcriptional activity of Bcl-2 were significantly reduced, the expression of miR-153-3p was up-regulated, and the level of Bcl-2 mRNA was reduced; the differences were all statistically significant ( P<0.05). Conclusion:Hyperbaric oxygen can relieve brain edema by improving the brain cell apoptosis and inflammatory reaction induced by MCAO via regulating the miR-153-3p/Bcl-2 axis.

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