Objective:To explore the clinical effect of thin superficial circumflex iliac artery perforator flap with venous superdrainage in treatment of wound in extremities.Methods:Clinical data of 20 patients who were treated from January 2018 to January 2024 in the Department of Burns and Plastic Surgery, Affiliated Hospital of Zunyi Medical University were retrospectively analysed. The soft tissue defects in extremity were reconstructed with thin perforator flaps of superficial iliac circumflex artery with venous superdrainage. There were 13 patients with upper limb defects and 7 with ankle defects. Of the defects, 12 were of trauma, 2 of tumour resection, 3 of scar release surgery and 3 of donor flat harvesting. The defects ranged from 5.0 cm×4.0 cm to 18.0 cm×7.0 cm in size. During the surgery, portable Doppler was used to detect the perforating branches of the superficial rotational iliac artery and design flaps. The flaps were 5.0 cm×5.0 cm to 20.0 cm×7.0 cm in size, including 16 single-lobed flaps, 3 double-lobed flaps and 1 triple-lobed flaps. The flaps were 2-7 mm in thickness, with an average of 4 mm. Based on the distribution of perforators, the flaps carried the superficial helioiliac artery and the accompanying vein, as well as the superficial helioiliac vein. The superficial helioiliac artery and the accompanying vein were anastomosed during the surgery, and the superficial helioiliac vein was anastomosed to the superficial or deep vein of the recipient site for superreflux. The donor sites were all directly sutured and closed. Postoperative follow-up was conducted by visits of outpatient clinic, and via telephone and WeChat interviews. The survival and appearance of the flaps and complications were observed.Results:A total of 22 arteries and 42 veins of the 20 flaps were anastomosed in surgery. All flaps survived. The donor sites were closed in the first stage. No vascular compromise occurred. One patient had early exudate under the flap on the exposed wound of interphalangeal joint, which healed after routine dressing change and drainage. All patients were included in the postoperative follow-up, with a peroid over 5 to 40 months, at 10.8 months in average. The flaps were thin and soft, with good wear resistance and without pigmentation. The healing of donor sites was good except 1 donore site that had early lymphatic leakage, which was cured after compression and drainage. A linear scar left at the donor sites and it was acceptable to the patients.Conclusion:The treatment of defective soft tissue wounds in extremities using thin perforator flap with venous superdrainage of the superficial circumflex iliac artery is safe and feasible. No further flap thinning surgery is required, and there is a reliable clinical effect.

OBJECTIVE: To compare the effectiveness of single-stage vascularized lymph node transfer (VLNT) combined with lymphaticovenular anastomosis (LVA) and liposuction (LS) (3L) versus LVA combined with LS (2L) for the treatment of moderate-to-late stage upper limb lymphedema following breast cancer surgery. METHODS: A retrospective analysis was conducted on the clinical data of 16 patients with moderate-to-late stage upper limb lymphedema after breast cancer surgery, treated between June 2022 and June 2024, who met the selection criteria. Patients were divided into 3L group (n=7) and 2L group (n=9) based on the surgical approach. There was no significant difference (P>0.05) in baseline data between the groups, including age, body mass index, duration of edema, volume of liposuction, International Society of Lymphology (ISL) stage, preoperative affected limb volume, preoperative circumferences of the affected limb at 12 levels (from 4 cm distal to the wrist to 42 cm proximal to the wrist), preoperative Lymphoedema Quality of Life (LYMQoL) score, and frequency of cellulitis episodes. The 2L group underwent LS on the upper arm and proximal forearm and LVA on the middle and distal forearm. The 3L group received additional VLNT in the axilla, with the groin serving as the donor site. Outcomes were assessed included the change in affected limb volume at 12 months postoperatively, and comparisons of limb circumferences, LYMQoL score, and frequency of cellulitis episodes between preoperative and 12-month postoperative. Ultrasound evaluation was performed at 12 months in the 3L group to assess lymph node viability. RESULTS: Both groups were followed up 12-20 months, with an average of 15.13 months. There was no significant difference in the follow-up time between the groups (t=-1.115, P=0.284). All surgical incisions healed by first intention. No adverse events, such as flap infection or necrosis, occurred in the 3L group. At 12 months after operation, ultrasound confirmed good viability of the transferred lymph nodes in the 3L group. Palpation revealed significant improvement in skin fibrosis and improved skin softness in both groups. Affected limb volume significantly decreased in both groups postoperatively (P<0.05). The reduction in limb volume significantly greater in the 3L group compared to the 2L group (P<0.05). Circumferences at all 12 measured levels significantly decreased in both groups compared to preoperative values (P<0.05). The reduction in circumference at all 12 levels was better in the 3L group than in the 2L group, with significant differences observed at 7 levels (8, 12, 16, 30, 34, 38, and 42 cm) proximal to the wrist (P<0.05). Both groups showed significant improvement in the frequency of cellulitis episodes and LYMQoL scores postoperatively (P<0.05). While the improvement in LYMQoL scores at 12 months did not differ significantly between groups (P>0.05), the reduction in cellulitis episodes was significantly greater in the 3L group compared to the 2L group (P<0.05). CONCLUSION The combination of VLNT+LVA+LS provides more durable and comprehensive outcomes for moderate-to-late stage upper limb lymphedema after breast cancer surgery compared to LVA+LS, offering an improved therapeutic solution for patients.
Humans ; Female ; Lipectomy/methods* ; Retrospective Studies ; Anastomosis, Surgical/methods* ; Lymphedema/etiology* ; Middle Aged ; Upper Extremity/surgery* ; Breast Neoplasms/surgery* ; Lymph Nodes/blood supply* ; Adult ; Lymphatic Vessels/surgery* ; Iliac Artery/surgery* ; Postoperative Complications/surgery* ; Perforator Flap/blood supply* ; Treatment Outcome ; Mastectomy/adverse effects* ; Quality of Life ; Aged

Virus-induced senescence (VIS) is a significant biological phenomenon, which is associated with declining immune function, accelerating aging process and causing aging-related diseases. A variety of common viruses, including RNA viruses (such as SARS-CoV-2), DNA viruses (such as herpesviruses and hepatitis B virus), and prions can cause VIS in host cells. The primary mechanisms include abnormal activation of the cGAS-STING signaling pathway, DNA damage response, and potential correlations with the integrated stress response due to intracellular phase separation. Viral infection and cellular senescence influence each other: cellular senescence serves as a defense to restrict viral replication and transmission, while some viruses exploit cellular senescence to enhance their infectivity and replication. Understanding the mechanisms of VIS is conducive to the development of therapeutic strategies for viral infections and promotion of healthy aging. However, there is lack of research on therapeutic targets and drug development in this field so far. Although senolytics may be effective for anti-senescent cells therapy, their efficacy for VIS needs evidence from further clinical trials. This article reviews the research progress on the connection between viral infection and cellular senescence, to provide insights for the prevention and treatment of aging related diseases.
Humans ; Cellular Senescence/physiology* ; Virus Diseases/physiopathology* ; Signal Transduction ; Nucleotidyltransferases/metabolism* ; DNA Damage ; Virus Replication ; COVID-19 ; Membrane Proteins/metabolism* ; SARS-CoV-2

ObjectiveTo observe the effect of Yangxin Tongmai Formula （养心通脉方） by midnight-noon ebb-flow administration method for rat models of premature coronary heart disease （PCHD） with blood stasis syndrome， and to explore the possible mechanism of action from the perspective of DNA methylation differential gene expression. MethodsThere were 3 SD rats in each of the blank group， model group and Yangxin Tongmai Formula group， and the rats in the model group and Yangxin Tongmai Formula group were fed with high-fat chow plus vitamin D3 by gavage plus isoproterenol hydrochloride by subcutaneous injection to construct rat models of PCHD with blood stasis syndrome. After successful modelling， rats in Yangxin Tongmai Formula group were gavaged with 18 g/（kg‧d） of Yangxin Tongmai Formula， and rats in blank group and the model group were gavaged with 4 ml/（kg‧d） of 0.9% NaCl solution， and serum samples of rats in each group were collected for DNA methylation sequencing after 3 weeks to screen for the relevant DNA methylation differentiation genes. In addition， rats with successful modelling of PCHD with blood stasis were randomly divided into model group， Yangxin Tongmai Formula with midnight-noon ebb-flow administration method group ［18 g/（kg‧d） of Yangxin Tongmai Formula was gavaged twice in the heart channel period （12：00） and pericardium channel period （20：00）］， the Yangxin Tongmai Formula control group ［18 g/（kg‧d） of Yangxin Tongmai Formula was gavaged twice at 8：00 and 18：00］ and the Atorvastatin Calcium group ［atorvastatin calcium tablets solution 1.8 mg/（kg‧d） at the same intervention time as that in Yangxin Tongmai Formula control group］， and set up a blank group of 8 rats in each group. The model group and blank group were gavaged with 0.9% NaCl solution 4 ml/（kg‧d） for the same time as the Yangxin Tongmai Formula control group. After 3 weeks of gavage， the blood lipids ［including total cholesterol （TC）， low-density lipoprotein （LDL）， high-density lipoprotein （HDL）］ levels of rats in each group were detected； the HE staining of myocardial tissues and thoracic aorta was used to observe the pathomorphological changes； the levels of serum inflammation indexes ［tumour necrosis factor alpha （TNF-alpha）， lipopolysaccharide （LPS）， and interleukin 10 （IL-10）］ were detected； immunoprecipitation-realtime fluorescence quantitative PCR was used to detect the relative expression of cardiac tissue screening differential genes. ResultsThe genes screened for differentially methylated regions were calmodulin 2 （Calm2）， calcium voltage-gated channel subunit α1s （Cacna1s）， and phospholipase Cβ1 （Plcb1）. Compared with the blank group， rats in the model group showed elevated levels of TC， LDL， TNF-α and LPS， and decreased levels of HDL and IL-10 （P＜0.05 or P＜0.01）； HE staining showed obvious swelling of myocardial fibres， accompanied by a large number of inflammatory cell infiltration， and thickening of the inner wall of the aortic vessels with internal wall damage， which was visible as a large number of lipid cholesterol crystals and obvious inflammatory cell infiltration. Compared with the model group， the TC， LDL， TNF-α and LPS contents of rats in the Yangxin Tongmai Formula with midnight-noon ebb-flow administration method group， the Yangxin Tongmai Formula control group， and the atorvastatin calcium group all reduced， and the contents of HDL and IL-10 all elevated （P＜0.05）， with the improvement of myocardial tissue damage and the reduction of inflammatory infiltration， and the improvement of the damage of the inner lining of the thoracic aorta and the reduction of lipid infiltration. Compared with Yangxin Tongmai Formula control group， LDL， TNF-α and LPS contents reduced， and IL-10 contents increased in the midnight-noon ebb-flow administration method group （P＜0.05）. Compared with the model group， the relative expression of Calm2 and Plcb1 genes decreased and the relative expression of Cacna1s gene increased in Yangxin Tongmai Formula control group and the midnight-noon ebb-flow administration method group （P＜0.05）； compared with the Yangxin Tongmai Formula control group， the relative expression of Calm2 gene decreased and the relative expression of Cacna1s gene increased in the midnight-noon ebb-flow administration method group （P＜0.05）. ConclusionThe intervention of Yangxin Tongmai Formula in the heart channel period （12：00） and pericardium channel period （20：00） was more effective in improving the blood lipid level， inhibiting inflammation， and improving myocardial tissue damage in rats of PCHD with blood stasis syndrome， and Calm2 and Cacna1s genes may be the key targets of Yangxin Tongmai Formula in intervening the blood stasis syndrome of PCHD.

Objective:To explore the clinical effect of thin superficial circumflex iliac artery perforator flap with venous superdrainage in treatment of wound in extremities.Methods:Clinical data of 20 patients who were treated from January 2018 to January 2024 in the Department of Burns and Plastic Surgery, Affiliated Hospital of Zunyi Medical University were retrospectively analysed. The soft tissue defects in extremity were reconstructed with thin perforator flaps of superficial iliac circumflex artery with venous superdrainage. There were 13 patients with upper limb defects and 7 with ankle defects. Of the defects, 12 were of trauma, 2 of tumour resection, 3 of scar release surgery and 3 of donor flat harvesting. The defects ranged from 5.0 cm×4.0 cm to 18.0 cm×7.0 cm in size. During the surgery, portable Doppler was used to detect the perforating branches of the superficial rotational iliac artery and design flaps. The flaps were 5.0 cm×5.0 cm to 20.0 cm×7.0 cm in size, including 16 single-lobed flaps, 3 double-lobed flaps and 1 triple-lobed flaps. The flaps were 2-7 mm in thickness, with an average of 4 mm. Based on the distribution of perforators, the flaps carried the superficial helioiliac artery and the accompanying vein, as well as the superficial helioiliac vein. The superficial helioiliac artery and the accompanying vein were anastomosed during the surgery, and the superficial helioiliac vein was anastomosed to the superficial or deep vein of the recipient site for superreflux. The donor sites were all directly sutured and closed. Postoperative follow-up was conducted by visits of outpatient clinic, and via telephone and WeChat interviews. The survival and appearance of the flaps and complications were observed.Results:A total of 22 arteries and 42 veins of the 20 flaps were anastomosed in surgery. All flaps survived. The donor sites were closed in the first stage. No vascular compromise occurred. One patient had early exudate under the flap on the exposed wound of interphalangeal joint, which healed after routine dressing change and drainage. All patients were included in the postoperative follow-up, with a peroid over 5 to 40 months, at 10.8 months in average. The flaps were thin and soft, with good wear resistance and without pigmentation. The healing of donor sites was good except 1 donore site that had early lymphatic leakage, which was cured after compression and drainage. A linear scar left at the donor sites and it was acceptable to the patients.Conclusion:The treatment of defective soft tissue wounds in extremities using thin perforator flap with venous superdrainage of the superficial circumflex iliac artery is safe and feasible. No further flap thinning surgery is required, and there is a reliable clinical effect.

Objective:This study aims to explore the changes in brain surface morphology and their association with psychological characteristics in adolescents experiencing their first episode of major depressive disorder.Methods:This study included 48 adolescents with first-episode major depressive disorder (depression group) admitted to the Department of Psychiatry of the First Affiliated Hospital of Chongqing Medical University from October 2021 to July 2022. At the same period,35 healthy controls (control group) were also enrolled,from communities of Chongqing. All participants underwent assessments for depressive symptoms, emotion regulation capacity, impulsiveness, and psychological resilience using the 17-item Hamilton Depression Scale (HAMD 17), the Patient Health Questionnaire-9 (PHQ-9), the Emotion Regulation Questionnaire (ERQ), the Barratt Impulsiveness Scale-11 (BIS-11), and the Connor-Davidson Resilience Scale (CD-RISC). Structure magnetic resonance imaging (sMRI) was utilized to evaluate brain surface morphology. The values of cortical thickness, fractal dimension, sulcus depth, and cortical gyrification index were calculated. The index of brain surface morphology between the two groups was compared using the two-sample t-test, chi-square test, and non-parametric statistical tests with multiple comparisons correction using threshold-free cluster enhancement (TFCE) and false discovery rate (FDR). Pearson correlation analyses were used to analyze the correlation between the scores of each scale (HAMD 17, PHQ-9, ERQ, BIS-11, and CD-RISC) and the cortical thickness values and fractal dimension in the depression group. In addition, multiple linear regression was used to analyze the impact of clinical symptoms on the cortical thickness values in the depression group. Results:Compared with the control group, the depression group exhibited a significant reduction in the cortical thickness of the left occidental (FDR corrected, P<0.05) and an increase of the fractal dimension in the right insula, right superior temporal gyrus, and right transverse temporal gyrus (TFCE uncorrected, P<0.001). Correlation analyses showed that left occipital cortical thickness was positively correlated with the cognitive reappraisal scores of ERQ ( r=0.315, P=0.029), the total score of CD-RISC ( r=0.366, P=0.016), and the unplanned impulsiveness scores of BIS-11 (reverse scoring for this dimension) ( r=0.354, P=0.014). The partial correlation analysis revealed a positive linear correlation between cortical thickness and unplanned impulsiveness scores after controlling for age ( r=0.467, P=0.001). However, after Bonferroni correction, these correlations were not statistically significant. Conclusions:Compared with healthy individuals, adolescents with first-episode depressive disorders demonstrated increased fractal dimension in the right insula, right superior temporal gyrus, and right transverse temporal gyrus and decreased cortical thickness in the left occipital lobe. The decreased cortical thickness in the left occipital lobe was associated with impaired emotion regulation ability and impulse control ability during periods of stress.

Objective To observe the protective and anti-inflammatory effects of Emodin and Geniposide compatibility on the intestinal mucosal barrier function damage in rats with systemic inflammatory response syndrome(SIRS).Methods Male Sprague-Dawley(SD)rats aged 6-8 weeks were randomly divided into normal control group,model group,Emodin group,Geniposide group,Emodin and Geniposide compatibility group(compatibility group),and Ulinastatin group.The SIRS model in rats was established by abdominal injection of yeast polysaccharide.The Emodin,Geniposide,Ulinastatin,and compatibility groups received administration immediately and 12 hours after the injection of yeast polysaccharide.After 24 hours of modeling,the contents of D-lactate(D-LA),diamine oxidase(DAO),endotoxin(ET),tumor necrosis factor-α(TNF-α),interleukins(IL-1β,IL-6,IL-10)in the serum of each group were measured;The small intestine was taken for histopathological examination,and the positive protein expression levels of nuclear factor-κB p65(NF-κB p65)and Toll-like receptor 4(TLR-4)in the small intestine tissue were determined by immuno histochemistry.Results Compared with the normal control group,the levels of D-LA,DAO,ET,TNF-α,IL-1β,IL-6 and IL-10 in the serum of the model group were significantly increased[D-LA(μmol/L):99.11±11.93 vs.36.94±1.92,DAO(U/L):5 018.80±759.00 vs.2 253.23±372.40,ET(μg/L):0.36±0.04 vs.0.15±0.02,TNF-α(ng/L):66.61±20.88 vs.9.47±0.78,IL-1β(ng/L):63.73±7.64 vs.25.86±5.90,IL-6(ng/L):392.00±56.47 vs.111.17±36.22,IL-10(ng/L):41.90±8.12 vs.19.75±1.54,all P<0.05],histopathological observations showed that the small intestine mucosa was significantly swollen,the arrangement of mucosal epithelial cells was disordered,and there was cell shedding,increased infiltration of inflammatory cells in the intestinal mucosa,decreased goblet cells,loose and congested lamina propria;the positive protein expression of TLR-4 and NF-κB in the small intestine tissue was enhanced[TLR-4 positive protein expression(A value):0.59±0.08 vs.0.27±0.04,NF-κB positive protein expression(A value):0.65±0.07 vs.0.30±0.06,both P<0.05].Compared with the model group,the levels of D-LA,DAO,and ET in the serum of the Emodin group,Geniposide group,Ulinastatin group,and compatibility group were significantly decreased[D-LA(μmol/L):67.49±8.32,69.08±6.76,69.17±5.63,58.16±7.12 vs.99.11±11.93,DAO(U/L):3 659.38±563.90,3 713.29±354.70,3 575.30±444.4,3 087.01±227.50 vs.5 018.80±759.0,ET(μg/L):0.27±0.04,0.24±0.03,0.23±0.03,0.20±0.02 vs.0.36±0.04,all P<0.05],and the contents of pro-inflammatory factors TNF-α,IL-1β,and IL-6 were significantly decreased[TNF-α(ng/L):44.34±10.63,39.23±11.74,35.80±11.49,28.74±9.56 vs.66.61±20.88,IL-1β(ng/L):50.30±8.22,46.74±5.10,48.25±5.16,40.84±5.02 vs.63.73±7.64,IL-6(ng/L):299.27±50.65,263.98±37.62,281.84±63.24,216.72±38.90 vs.392.00±56.47,all P<0.05].The levels of serum anti-inflammatory factor IL-10 were significantly increased(ng/L:92.63±32.83,87.34±30.79,71.66±16.82,133.70±39.40 vs.41.90±8.12,all P<0.05).The pathological changes in the intestinal tissue of the Emodin group,Geniposide group,compatibility group,and Ulinastatin group were reduced,and the positive expressions of NF-κB p65 and TLR-4 proteins in the small intestine tissue were significantly decreased[TLR-4 positive protein expression(A value):0.49±0.03,0.47±0.08,0.36±0.08,0.42±0.06 vs.0.59±0.08,NF-κB p65 positive protein expression(A value):0.50±0.06,0.49±0.07,0.42±0.06,0.46±0.09 vs.0.65±0.07,all P<0.05].Compared with the Emodin group and Geniposide group,the serum D-LA,DAO,ET,TNF-α,IL-1β,and IL-6 in the compatibility group were significantly decreased,the serum IL-10 level was significantly increased,the pathological changes in the intestinal tissue were reduced,and the expression levels of NF-κB p65 and TLR-4 in the small intestine tissue were significantly decreased(all P<0.05).Conclusions Emodin and Geniposide can help relieve SIRS induced by yeast polysaccharide,and their effect is related to protecting the intestinal mucosal barrier and inhibiting the inflammatory response.When combined,they exhibit a synergistic effect.

Objective:This study aims to explore the changes in brain surface morphology and their association with psychological characteristics in adolescents experiencing their first episode of major depressive disorder.Methods:This study included 48 adolescents with first-episode major depressive disorder (depression group) admitted to the Department of Psychiatry of the First Affiliated Hospital of Chongqing Medical University from October 2021 to July 2022. At the same period,35 healthy controls (control group) were also enrolled,from communities of Chongqing. All participants underwent assessments for depressive symptoms, emotion regulation capacity, impulsiveness, and psychological resilience using the 17-item Hamilton Depression Scale (HAMD 17), the Patient Health Questionnaire-9 (PHQ-9), the Emotion Regulation Questionnaire (ERQ), the Barratt Impulsiveness Scale-11 (BIS-11), and the Connor-Davidson Resilience Scale (CD-RISC). Structure magnetic resonance imaging (sMRI) was utilized to evaluate brain surface morphology. The values of cortical thickness, fractal dimension, sulcus depth, and cortical gyrification index were calculated. The index of brain surface morphology between the two groups was compared using the two-sample t-test, chi-square test, and non-parametric statistical tests with multiple comparisons correction using threshold-free cluster enhancement (TFCE) and false discovery rate (FDR). Pearson correlation analyses were used to analyze the correlation between the scores of each scale (HAMD 17, PHQ-9, ERQ, BIS-11, and CD-RISC) and the cortical thickness values and fractal dimension in the depression group. In addition, multiple linear regression was used to analyze the impact of clinical symptoms on the cortical thickness values in the depression group. Results:Compared with the control group, the depression group exhibited a significant reduction in the cortical thickness of the left occidental (FDR corrected, P<0.05) and an increase of the fractal dimension in the right insula, right superior temporal gyrus, and right transverse temporal gyrus (TFCE uncorrected, P<0.001). Correlation analyses showed that left occipital cortical thickness was positively correlated with the cognitive reappraisal scores of ERQ ( r=0.315, P=0.029), the total score of CD-RISC ( r=0.366, P=0.016), and the unplanned impulsiveness scores of BIS-11 (reverse scoring for this dimension) ( r=0.354, P=0.014). The partial correlation analysis revealed a positive linear correlation between cortical thickness and unplanned impulsiveness scores after controlling for age ( r=0.467, P=0.001). However, after Bonferroni correction, these correlations were not statistically significant. Conclusions:Compared with healthy individuals, adolescents with first-episode depressive disorders demonstrated increased fractal dimension in the right insula, right superior temporal gyrus, and right transverse temporal gyrus and decreased cortical thickness in the left occipital lobe. The decreased cortical thickness in the left occipital lobe was associated with impaired emotion regulation ability and impulse control ability during periods of stress.

Objective:To analyze clinical phenotypes and pathogenic mutations of a patient with classic tuberous sclerosis complex.Methods:Clinical data was collected from a patient with classic tuberous sclerosis complex. Next-generation sequencing was performed to screen pathogenic gene variants, and Sanger sequencing to verify the mutations. Minigene plasmids were constructed and transfected into the human renal epithelial cell line 293T, and RNA was extracted for transcriptional analysis.Results:The patient clinically presented with recurrent epileptic seizures, facial angiofibroma, periungual fibroma, pulmonary lymphangioleiomyomatosis, renal angiomyolipoma and multiple osteosclerosis. Next-generation sequencing revealed a suspected pathogenic variant in the TSC2 gene in the patient. Sanger sequencing identified a heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene in the patient, but not in his parents or 100 unrelated healthy controls. Moreover, this mutation had not been previously reported. The minigene experiment showed changed mRNA sequence of the TSC2 gene in this patient with loss of the authentic splice site in exon 4 and insertion of a 74-bp intron, which shifted the splice site 90 bp downstream (r.336delins336+16_336+90) .Conclusion:The novel heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene can lead to aberrant splicing, and may contribute to tuberous sclerosis complex in this patient.

Humans ; Autistic Disorder ; China/epidemiology* ; Cohort Studies ; Autism Spectrum Disorder/genetics* ; Asian People