A comparative study for the efficacies of transaxillary non-inflatable endoscopic surgery versus traditional surgery for papillary thyroid carcinoma / 中华耳鼻咽喉头颈外科杂志

Objective: To compare the efficacies between open surgery and axillary non-inflatable endoscopic surgery in papillary thyroid carcinoma (PTC). Methods: A retrospective analysis was performed on 343 patients with unilateral PTC treated by traditional open surgery (201 cases) and transaxillary non-inflating endoscopic surgery (142 cases) from May 2019 to December 2021 in the Head and Neck Surgery of Sichuan Cancer Hospital. Among them, 97 were males and 246 were females, aged 20-69 years. 1∶1 propensity score matching (PSM) was performed on the enrolled patients, and the basic characteristics, perioperative clinical outcomes, postoperative complications, postoperative quality of life (Thyroid Cancer-Specific Quality of Life), aesthetic satisfaction and other aspects of the two groups were compared after successful matching. SPSS 26.0 software was used for statistical analysis. Results: A total of 190 patients were enrolled after PSM, with 95 cases in open group and 95 cases in endoscopic group. Intraoperative blood losses for endoscopic and open groups were [20 (20) ml vs. 20 (10) ml, M (IQR), Z=-2.22], postoperative drainage volumes [170 (70)ml vs. 101 (55)ml, Z=-7.91], operative time [135 (35)min vs. 95 (35)min, Z=-7.34], hospitalization cost [(28 188.7±2 765.1)yuan vs. (25 643.5±2 610.7)yuan, x¯±s, t=0.73], postoperative hospitalization time [(3.1±0.9)days vs. (2.6±0.9)days, t=-3.24], and drainage tube placement time [(2.5±0.8) days vs. (2.0±1.0)days, t=-4.16], with statistically significant differrences (all P<0.05). There was no significant difference in surgical complications (P>0.05). There were significant diffferences between two groups in the postoperative quality of life scores in neuromuscular, psychological, scar and cold sensation (all P<0.05), while there were no statistically significant differences in other quality of life scores (all P>0.05). In terms of aesthetic satisfaction 6 months after surgery, the endoscopic group was better than the open group, with statistically significant difference (χ2=41.47, P<0.05). Conclusion: Endoscopic thyroidectomy by a gasless unilateral axillary approach is a safe and reliable surgical method, which has remarkable cosmetic effect and can improve the postoperative quality of life of patients compared with the traditional thyroidectomy.

Comparison of three kinds of free flaps used in patients with oral and oropharyngeal tumors / 中华耳鼻咽喉头颈外科杂志

Objective: To compare the recovery and quality of life of patients with oral and oropharyngeal tumors treated with three kinds of free soft tissue flaps. Methods: The clinical data of 103 patients, including 66 males and 37 females, aged 26-74 years, who underwent primary repair of defects after resection of oral and oropharyngeal tumors in Sichuan Tumor Hospital from July 2014 to August 2020 were analyzed. Anterolateral thigh flap (ALTF) was used in 43 patients, radial forearm free flap (RFFF) in 45 patients, and lateral arm free flap (LAFF) in 15 patients. Postoperative qualities of life of patients were evaluated by the university of Washington quality of life questionnaire and oral health impact scale (HIP-14 Chinese edition). SPSS 23.0 software was used for statistical analysis. Results: The T staging of RFFF or LAFF group was significantly lower than that of ALTF group (P<0.05). There was no significant difference in mean flap areas between ALTF group ((55.87±27.38) cm2) and LAFF group ((49.93±19.44) cm2), while RFFF group had smaller mean flap area ((33.18±6.05) cm2) than ALTF group (t=5.311, P<0.001) and LAFF group (t=3.284, P=0.005). In terms of oral functions including swallowing, mastication, taste and spitmouth, there were no significant differences between LAFF group and RFFF group (P>0.05), but both groups had better oral functions than ALTF group (P<0.05). There was no significant difference in appearance scores between LAFF group (75(75, 75)) and ALTF group (75(75,75) vs.75(75,75),Z=-1.532, P=0.126), and both groups had higher scores than RFFF group (50(50, 75),Z values were -3.447 and -3.005 respectively, P<0.05). RFFF group had higher speech score (100(67, 100)) than LAFF group (67(50, 76),Z=-2.480, P<0.05) and ALTF group (67(33, 67),Z=-5.414, P<0.05). ALTF group had lower mean score of quality of life than RFFF group [72(56,77) vs.79(69, 89),Z=-3.070, P<0.05), but there was no statistical difference in the mean scores of qualities of life between ALTF group and LAFF group (Z=1.754, P=0.079). According to the evaluation of oral health impact scale (HIP-14 Chinese version) 1 year after surgery, individual item scores and the average score of all items in ALTF group were lower than those in RFFF and LAFF groups (P<0.05), with no significant difference between RFFF group and LAFF group (P>0.05). Conclusions: RFFF has unique advantages for small tissue defects, while ALTF is suitable for large tissue defects, such as buccal penetrating defect, whole tongue and near whole tongue defect, and LAFF is a compromise choice between ALTF and RFFF. ALTF is inferior to RFFF and LAFF in oral functional reconstruction, including swallowing, chewing, taste and spittle. ALTF and LAFF are superior to RFFF in postoperative appearance.

Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS).</p><p><b>METHODS</b>DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced.</p><p><b>RESULTS</b>DNA sequencing has revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop codon resulting premature termination for translation.</p><p><b>CONCLUSION</b>A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.</p>

A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To describe a community-based model for prevention and control of severe alpha and beta thalassemias in Zhuhai city of Guangdong province.</p><p><b>METHODS</b>Couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled in this prospective screening program, which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling. A conventional heterozygote screening strategy was used to determine alpha and beta thalassemia traits in women and their partners according to the standard procedures of hematological phenotype analysis. Then confirmative diagnosis of alpha and beta thalassemia was performed on those couples suspected at-risk for severe thalassemia by using the PCR-based molecular diagnostic assays. The couples at-risk for severe thalassemia were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus.</p><p><b>RESULTS</b>During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening, with 71.38% coverage of total population recorded in this city for premarital screening. Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias, with 4312 for alpha thalassemia (4.5%) and 2251 for beta thalassemia (2.3%), respectively. One hundred and forty-eight couples were diagnosed to be at-risk for thalassemias, including 103 for alpha thalassemia and 45 for beta thalassemia, respectively. Successful prenatal diagnosis was made for 142 (98 for alpha thalassemia and 44 for beta thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias. Twenty-three cases of hydrops fetalis, 4 of Hb H diseases and 14 of beta thalassemia were identified. All 41 pregnancies with affected fetuses were voluntarily terminated. Thus, this has led to a marked decrease of severe thalassemia syndrome since the program started.</p><p><b>CONCLUSION</b>We presented the first community-based prospective screening program in China for control of alpha and beta thalassemia in Zhuhai city with a population of 1.29 million through premarital or prenatal screening. This model could be used for control of thalassemias and other hemoglobinopathies in other regions of China and also in other developing countries.</p>

Rapid differential diagnosis of thalassemia trait and iron-deficiency anemia with stepwise regression analysis / 南方医科大学学报

<p><b>OBJECTIVE</b>To establish a method for rapid differential diagnosis of thalassemia trait (TT) and iron-deficiency anemia (IDA) using stepwise regression analysis.</p><p><b>METHODS</b>Stepwise regression equation was established for differential diagnosis of TT and IDA according to the red cell index, and the accuracy of the differential diagnosis was evaluated using blind analysis.</p><p><b>RESULTS</b>The accuracy of this equation for differential diagnosis of TT and IDA was 86.82%. The sensitivity, specificity and Youden's index in prediction of TT and IDA were 94.29%, 79.66%, 73.9 and 76.92%, 90.52%, and 67.4%, respectively.</p><p><b>CONCLUSION</b>The stepwise regression equation using the red cell index is concise, rapid, and sensitive in differential diagnosis of TT and IDA, and can be well applicable in clinical practice.</p>

Clinical phenotype genotype correlation in children with hemoglobin H disease in Zhuhai area of China / 中华儿科杂志

<p><b>OBJECTIVE</b>Alpha-thalassemia is one of the most common monogene disorders in the world. Most frequently, it is caused by deletions of alpha-globin gene (-alpha or --), and less commonly resulted from the non-deletional mutation (alpha(T)alpha). Hemoglobin H (HbH) disease is the most severe type among survivors of alpha-thalassemia. The clinical presentation of children with the disease was highly heterogeneous. The aim of this study was to investigate the effect of alpha-globin genotypes in the children with HbH disease on predicting the phenotypic severity and to define the factors involved in the disease progress.</p><p><b>METHODS</b>Forty-three children with the disease in Zhuhai area of Guangdong, China were examined by using established techniques to detect genotypes of alpha-globin and to determine all hematological parameters. All detailed clinical data of the cases were recorded. Then clinical and hematological findings, and the correlation with genotypes were evaluated.</p><p><b>RESULTS</b>Six alpha-thalassemia mutations were detected and interacted to produce 5 HbH disease genotypes. Of these genotypes, -alpha(3.7)/--(SEA)(60%), -alpha(4.2)/--(SEA) (19%) and alpha(CS)alpha/--(SEA) (12%) HbH diseases were prevalent in the area. Compared with -alpha(3.7)/--(SEA) HbH disease, significantly lower red blood cell (RBC) count, hemoglobin (Hb), mean corpuscular hemoglobin (MCHC) and HbA(2) (P < 0.05, 0.01, 0.01 and 0.01, respectively), and significantly higher mean corpuscular hemoglobin volume (MCV) and HbH levels (both P < 0.01), and more severe clinical phenotypes were found in the HbH disease with alpha(T)alpha/--(SEA) genotype. While the differences were much more significant when compared with -alpha(3.7)/--(SEA) then compared with -alpha(4.2)/--(SEA) not only in the hematological parameters, but also in the severity of clinical phenotypes. In addition, HbH levels showed anegatively correlation with the RBC count (r = -0.39, P < 0.01).</p><p><b>CONCLUSION</b>The phenotypes of HbH disease may be mainly related to the underlying genotypes. The children with alpha(T)alpha/--(SEA) genotype presented with more severe hematological and clinical phenotypes followed by the -alpha(4.2)/--(SEA) and then -alpha(3.7)/--(SEA) genotypes. But phenotypic severity was not simply related to the degree of alpha-globin deficiency. HbH levels were found to exacerbate anemia. These data might provide comprehensive and very valuable and basic information for the management of HbH disease, genetic counseling and prenatal diagnosis.</p>