The purpose of this investigation was to elucidate the clinical characteristics and genetic underpinnings of a pediatric patient with neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSW, OMIM#617807). The affected individual, a 1-year-9-month-old male, displayed physical development retardation and distinctive facial features, notably periorbital puffiness, upward-gazing palpebral fissures, a shortened philtrum, a tented mouth, and conical-shaped digits. Clinically, the patient presented with profound global developmental retardation, marked language deficits, hypotonia, and an ataxic gait. Subtle, non-diagnostic alterations were identified in cranial magnetic resonance imaging and visual evoked potential assessments. The trio-whole exome sequencing analysis revealed a de novo heterozygous mutation, c.202G>A (p.A68T), within the RAB11B gene, a known pathogenic variant linked to NDAGSW. Neurodevelopmental disorders due to RAB11B gene variants are rare disorders with clinical manifestations of severe mental retardation, aphasia, motor retardation, gait abnormalities with peculiar phenotypical features, structural abnormalities of the brain, and reduced cerebral white matter, cerebellar hypoplasia, and hypoplasia of the corpus callosum as seen on cranial imaging. Based on the characteristics of the disease, the heterozygous missense mutation c.202G>A (p.Ala68Thr) in the RAB11B gene was identified as the genetic etiology of the child.

Objective:To explore the clinical effects of various special forms of the descending branch of the lateral circumflex femoral artery (DLCFA) perforator flaps in repairing high-voltage electrical burn wounds on the wrist.Methods:This study was a retrospective observational study. From September 2014 to June 2024, 79 male patients with high-voltage electrical burns on the wrist, aged 20 to 62 years and met the inclusion criteria, were admitted to Beijing Jishuitan Hospital Affiliated to Capital Medical University, with wrist high-voltage electrical burn wound (hereinafter referred to as wrist wound) types being classified as type Ⅱ or type Ⅲ. In the early stage after injury, debridement was performed on the patients' wrists. Based on the wound condition and flap indications, the flow-through, lobed, chimeric, flow-through-lobed, lobed-chimeric, flow-through-chimeric, or flow-through-lobed-chimeric DLCFA perforator flap was employed individually, and the flow-through-chimeric DLCFA perforator flap and tensor fascia lata myocutaneous flap were employed in combination to repair the wounds. The donor site wounds were repaired using direct sutures or skin grafting. The number of various DLCFA perforator flaps resected during surgery and the number of various types of wrist wounds repaired were recorded, as well as the closure status of the donor site wound. The postoperative flap survival, occurrence of vascular crisis, wound or suture site healing, and patency of the reconstructed artery in flow-through flaps were recorded. During follow-up, the appearance of the flap, scar formation, and the presence of thigh muscle herniation were observed.Results:Intraoperatively, 11 flow-through DLCFA perforator flaps were resected to repair 11 type Ⅱ wrist wounds, 13 lobed DLCFA perforator flaps were resected to repair 9 type Ⅱ and 4 type Ⅲ wrist wounds, 16 chimeric DLCFA perforator flaps were resected to repair 16 type Ⅱ wrist wounds, 11 flow-through-lobed DLCFA perforator flaps were resected to repair 5 type Ⅱ and 6 type Ⅲ wrist wounds, 10 lobed-chimeric DLCFA perforator flaps were resected to repair 5 type Ⅱ and 5 type Ⅲ wrist wounds, 6 flow-through-chimeric DLCFA perforator flaps were resected to repair 6 type Ⅱ wrist wounds, 7 flow-through-lobed-chimeric DLCFA perforator flaps were resected to repair 7 type Ⅲ wrist wounds, and 5 flow-through-chimeric DLCFA perforator flaps combined with tensor fascia lata myocutaneous flaps were resected to repair 5 type Ⅲ wrist wounds. Seventy-four patients had their donor site wounds closed by direct suturing, while 5 patients had their donor site wounds closed by skin grafting. Postoperatively, the flaps in 3 patients developed vascular crisis, including 1 case of arterial crisis and 2 cases of venous crises but survived after emergency vascular exploration and other treatments; the remaining flaps survived completely. Postoperatively, 3 patients had seepage beneath their flaps, which were closed after dressing changes; the remaining patients' wounds or suture sites all healed. Anteriography showed that all reconstructed arteries in 35 patients who underwent flow-through flap transplantation were patent postoperatively. During the follow-up period of 3 months to 1 year, 20 patients had bloated flap, while the rest had good flap appearance; linear scars were left in the donor sites that underwent direct wound closure, and the skin-grafted areas of the donor site wounds showed no significant patchy hypertrophic scarring; no thigh muscle herniation occurred.Conclusions:Taking the full advantage of perforator flaps, various special forms of the DLCFA perforator flaps are used to repair the three-dimensionally injury wounds caused by high-voltage electrical burns on the wrist, which not only minimizes the damage to the donor site but also allow the recipient site to be well repaired, showing good appearance in the recent follow-up.

The purpose of this investigation was to elucidate the clinical characteristics and genetic underpinnings of a pediatric patient with neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSW, OMIM#617807). The affected individual, a 1-year-9-month-old male, displayed physical development retardation and distinctive facial features, notably periorbital puffiness, upward-gazing palpebral fissures, a shortened philtrum, a tented mouth, and conical-shaped digits. Clinically, the patient presented with profound global developmental retardation, marked language deficits, hypotonia, and an ataxic gait. Subtle, non-diagnostic alterations were identified in cranial magnetic resonance imaging and visual evoked potential assessments. The trio-whole exome sequencing analysis revealed a de novo heterozygous mutation, c.202G>A (p.A68T), within the RAB11B gene, a known pathogenic variant linked to NDAGSW. Neurodevelopmental disorders due to RAB11B gene variants are rare disorders with clinical manifestations of severe mental retardation, aphasia, motor retardation, gait abnormalities with peculiar phenotypical features, structural abnormalities of the brain, and reduced cerebral white matter, cerebellar hypoplasia, and hypoplasia of the corpus callosum as seen on cranial imaging. Based on the characteristics of the disease, the heterozygous missense mutation c.202G>A (p.Ala68Thr) in the RAB11B gene was identified as the genetic etiology of the child.

Objective:To explore the clinical effects of various special forms of the descending branch of the lateral circumflex femoral artery (DLCFA) perforator flaps in repairing high-voltage electrical burn wounds on the wrist.Methods:This study was a retrospective observational study. From September 2014 to June 2024, 79 male patients with high-voltage electrical burns on the wrist, aged 20 to 62 years and met the inclusion criteria, were admitted to Beijing Jishuitan Hospital Affiliated to Capital Medical University, with wrist high-voltage electrical burn wound (hereinafter referred to as wrist wound) types being classified as type Ⅱ or type Ⅲ. In the early stage after injury, debridement was performed on the patients' wrists. Based on the wound condition and flap indications, the flow-through, lobed, chimeric, flow-through-lobed, lobed-chimeric, flow-through-chimeric, or flow-through-lobed-chimeric DLCFA perforator flap was employed individually, and the flow-through-chimeric DLCFA perforator flap and tensor fascia lata myocutaneous flap were employed in combination to repair the wounds. The donor site wounds were repaired using direct sutures or skin grafting. The number of various DLCFA perforator flaps resected during surgery and the number of various types of wrist wounds repaired were recorded, as well as the closure status of the donor site wound. The postoperative flap survival, occurrence of vascular crisis, wound or suture site healing, and patency of the reconstructed artery in flow-through flaps were recorded. During follow-up, the appearance of the flap, scar formation, and the presence of thigh muscle herniation were observed.Results:Intraoperatively, 11 flow-through DLCFA perforator flaps were resected to repair 11 type Ⅱ wrist wounds, 13 lobed DLCFA perforator flaps were resected to repair 9 type Ⅱ and 4 type Ⅲ wrist wounds, 16 chimeric DLCFA perforator flaps were resected to repair 16 type Ⅱ wrist wounds, 11 flow-through-lobed DLCFA perforator flaps were resected to repair 5 type Ⅱ and 6 type Ⅲ wrist wounds, 10 lobed-chimeric DLCFA perforator flaps were resected to repair 5 type Ⅱ and 5 type Ⅲ wrist wounds, 6 flow-through-chimeric DLCFA perforator flaps were resected to repair 6 type Ⅱ wrist wounds, 7 flow-through-lobed-chimeric DLCFA perforator flaps were resected to repair 7 type Ⅲ wrist wounds, and 5 flow-through-chimeric DLCFA perforator flaps combined with tensor fascia lata myocutaneous flaps were resected to repair 5 type Ⅲ wrist wounds. Seventy-four patients had their donor site wounds closed by direct suturing, while 5 patients had their donor site wounds closed by skin grafting. Postoperatively, the flaps in 3 patients developed vascular crisis, including 1 case of arterial crisis and 2 cases of venous crises but survived after emergency vascular exploration and other treatments; the remaining flaps survived completely. Postoperatively, 3 patients had seepage beneath their flaps, which were closed after dressing changes; the remaining patients' wounds or suture sites all healed. Anteriography showed that all reconstructed arteries in 35 patients who underwent flow-through flap transplantation were patent postoperatively. During the follow-up period of 3 months to 1 year, 20 patients had bloated flap, while the rest had good flap appearance; linear scars were left in the donor sites that underwent direct wound closure, and the skin-grafted areas of the donor site wounds showed no significant patchy hypertrophic scarring; no thigh muscle herniation occurred.Conclusions:Taking the full advantage of perforator flaps, various special forms of the DLCFA perforator flaps are used to repair the three-dimensionally injury wounds caused by high-voltage electrical burns on the wrist, which not only minimizes the damage to the donor site but also allow the recipient site to be well repaired, showing good appearance in the recent follow-up.

Objective·To analyze the clinicopathologic characteristics,gene mutation profile,and prognostic factors of thyroid diffuse large B-cell lymphoma(DLBCL).Methods·From November 2003 to December 2021,a total of 66 patients with thyroid DLBCL[23 cases(34.8%)with primary thyroid DLBCL,and 43 cases(65.2%)with secondary thyroid DLBCL]admitted to Ruijin Hospital,Shanghai Jiao Tong University School of Medicine were retrospectively analyzed for their clinicopathological data,survival and prognostic factors.Gene mutation profiles were evaluated by targeted sequencing(55 lymphoma-related genes)in 40 patients.Results·Compared to primary thyroid DLBCL,secondary thyroid DLBCL had advanced ratio of Ann Arbor stage Ⅲ?Ⅳ(P=0.000),elevated serum lactate dehydrogenase(LDH)(P=0.043),number of affected extranodal involvement≥2(P=0.000),non-germinal center B cell(non-GCB)(P=0.030),BCL-2/MYC double expression(DE)(P=0.026),and international prognostic index(IPI)3?5-scores(P=0.000).The proportion of patients who underwent thyroid surgery(P=0.012)was lower than that of patients with primary thyroid DLBCL.The complete remission(CR)rate in primary thyroid DLBCL patients was higher than that in secondary thyroid DLBCL patients(P=0.039).Fifty-five patients(83%)received rituximab combined with cyclophosphamide,doxorubicin,vincristine,and prednisone(R-CHOP)-based first-line regimen.The estimated 5-year progression free survival(PFS)rate of primary thyroid DLBCL patients was 95.0%,higher than the 49.7%of the secondary patients(P=0.010).Univariate analysis showed that Ann Arbor Ⅲ?Ⅳ(HR=4.411,95%CI 1.373?14.170),elevated LDH(HR=5.500,95%CI 1.519?19.911),non-GCB(HR= 5.291,95%CI 1.667?16.788),and DE(HR=6.178,95%CI 1.813?21.058)were adverse prognostic factors of PFS in patients with thyroid DLBCL.Ann Arbor Ⅲ?Ⅳ(HR=7.088,95%CI 0.827?60.717),elevated LDH(HR=6.982,95%CI 0.809?60.266),and DE(HR=18.079,95%CI 1.837?177.923)were adverse prognostic factors of overall survival(OS).Multivariate analysis showed that Ann Arbor Ⅲ?Ⅳ(HR=4.693,95%CI 1.218?18.081)and elevated LDH(HR=5.058,95%CI 1.166?21.941)were independent adverse prognostic factors of PFS in patients with thyroid DLBCL.Targeted sequencing data showed mutation frequency>20%in TET2(n=14,35%),KMT2D(n=13,32%),TP53(n=11,28%),GNA13(n=10,25%),KMT2C(n=9,22%),and TP53 were adverse prognostic factors of PFS in patients with thyroid DLBCL(P=0.000).Conclusion·Patients with primary thyroid DLBCL have better PFS and OS than those with secondary thyroid DLBCL.Ann Arbor Ⅲ?Ⅳ,elevated LDH,non-GCB,and DE(MYC and BCL2)are adverse prognostic factors in thyroid DLBCL.TET2,KMT2D,TP53,GNA13,and KMT2C are commonly highly mutated genes in thyroid DLBCL,and the prognosis of patients with TP53 mutations is poor.

Objective:To explore the repair strategy of chest radiation ulcer after radical mastectomy for breast cancer and its clinical effect.Methods:The study was a retrospective observational study. From September 2020 to September 2023, 27 female patients (aged 37-83 years) with chest radiation ulcers after radical mastectomy for breast cancer who met the inclusion criteria were admitted to Beijing Jishuitan Hospital Affiliated to Capital Medical University, of which 7 patients developed significant pain in the chest region. Various examinations were completed to accurately assess the presence of tumors and depth of radiation ulcers. After tumor recurrence was ruled out, the ulcer wounds were thoroughly debrided (the wound size after debridement was 8 cm×7 cm to 18 cm×18 cm). At the same time, pathological examination of the wound tissue and bacterial culture of the wound tissue/exudate samples were performed. The wound repair surgery was performed at the same time after debridement or one week after vacuum sealing drainage (VSD) treatment. Based on the location and size of the wound, the age and overall condition of the patient, as well as the principle of minimizing damage to the donor site, the most suitable tissue flap was selected to repair the wound. The donor site wound was transplanted with a split-thickness skin graft or sutured together. The level and tissue structure of radiation injury, and the type and size of transplanted tissue flap were recorded. The results of postoperative pathological examination of wound tissue and bacterial culture of wound tissue/exudate samples, pain relief, survival of tissue flap, and wound healing were recorded. During the follow-up, the shape of the tissue flap, whether the ulcer recurred, the wound healing of the donor site, and whether the abdominal wall hernia occurred in the donor site of the rectus abdominis myocutaneous flap were observed.Results:Radiation injury involved ribs and costal cartilage in 21 cases, ribs, sternum, and clavicle in 4 cases, and clavicle and subclavian artery in 2 cases. Twelve patients were transplanted with rectus abdominis myocutaneous flap, eight patients with latissimus dorsi myocutaneous flap, three patients with internal thoracic artery perforator flap, three patients with superior epigastric artery perforator flap, and one patient with free deep inferior epigastric perforator flap. The size of tissue flap was 14 cm×8 cm to 20 cm×20 cm. After surgery, no tumor component was found in the pathological examination of wound tissue; 25 patients were positive and 2 patients were negative in bacterial culture results of wound tissue/exudate samples; the pain of 7 patients was completely relieved. The tissue flaps of 25 patients survived completely after surgery, and the wounds healed. Two patients had partial necrosis at the tip of the rectus abdominis myocutaneous flap, which healed after debridement and tissue flap repair. The patients were followed up for 6 months to 2 years. The appearance of the tissue flaps was good, and no ulcer recurred. The linear scar was left on the donor site, and no abdominal wall hernia occurred in the donor site of the rectus abdominis myocutaneous flap.Conclusions:Thorough debridement and VSD treatment after accurate assessment of the extent of damage, and the selection of appropriate tissue flap to repair the wound based on the patient's general condition, the wound characteristics, and the principle of minimizing damage to the donor site are good repair strategies for the chest radiation ulcers after radical mastectomy for breast cancer. By using the strategies, the wounds could be closed as soon as possible, preventing ulcer recurrence and having a good prognosis.

Objective:To explore the clinical effects of chimeric perforator flaps in repairing wounds with bone or internal fixation exposure and wounds with osteomyelitis.Methods:This study was a retrospective observational study. From January 2018 to December 2022, 20 patients with wounds with bone or internal fixation exposure and wounds with osteomyelitis who met the inclusion criteria were admitted to Beijing Jishuitan Hospital Affiliated to Capital Medical University, including 19 males and 1 female, aged from 21 to 73 years. Among the 21 wounds, there were 5 wounds with bone exposure, 12 wounds with osteomyelitis, and 4 wounds with internal fixation exposure. After the debridement in the first stage, the wound area was 6 cm×3 cm to 22 cm×10 cm. Then vacuum sealing drainage was carried out for 5 to 7 days. In the second stage, the wounds were covered with pedicled chimeric medial sural artery perforator flap, pedicled chimeric posterior tibialis artery perforator flap, free chimeric perforator flap pedicled with descending branch of lateral circumflex femoral artery, free chimeric medial sural artery perforator flap or free chimeric deep circumflex iliac artery perforator flap with incision area of 7 cm×5 cm to 25 cm×12 cm. The chimeric muscle flap was used to fill and cover irregular deep cavities. The wounds in the flap donor sites were sutured directly or repaired with medium-thickness skin grafts from the thigh. The survival of flap and the healing of wound in flap donor site were observed after operation. The recurrence of infection was followed up.Results:Among the 18 free chimeric perforator flaps, 16 flaps survived successfully; one flap experienced a venous crisis on the day of surgery and survived completely after emergency exploration and re-anastomosis; another one flap had partial distal necrosis, which healed after dressing changes. All the wounds in the flap donor sites healed evenly. All 3 pedicled chimeric perforator flaps survived; one of them developed sub-flap infection but healed after debridement and bone cement placement. The wound in the donor site of 1 flap developed incision dehiscence, which healed successfully after redebridement and suturing. The donor site wounds of the rest 2 flaps healed well. During 3 to 12 months of follow-up, the patients with wounds with bone or internal fixation exposure showed no signs of abnormal exudation or infection, and no infection recurrence was observed in patients with wounds with osteomyelitis.Conclusions:The application of chimeric perforator flaps is effective in covering wounds, filling dead spaces, and controlling infection in wounds with bone or internal fixation exposure and wounds with osteomyelitis. Moreover, this method minimizes the damage to the donor site.

Objective:To explore the relationship between anhedonia and suicidal ideation and the effects of anhedonia on suicidal ideation in patients with first-episode untreated depressive disorder.Methods:Totally 106 in-patients who met the diagnostic criteria for depressive disorder of the Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition(DSM-5)were invited to participate in the study.Anhedonia,depressive symptoms and sui-cidal ideation were assessed with the Snaith-Hamilton Pleasure Scale(SHAPS),Hamilton Depression Scale(HAMD)and Beck Scale for Suicide Ideation(BSI),respectively.If both items 4 and 5 of BSI were 0,it indicated non-suicidal ideation,the subjects were divided into a group of suicidal ideation(n=66)and a group non-suicidal ideation(n=40).Spearman correlation analysis and multivariate binary logistic regression analysis were used for a-nalysis.Results:The correlation between the scores of SHAPS and HAMD was not statistically significant(P＞0.05).The SHAPS scores were positively correlated with the BSI scores(r=0.70,P＜0.01).Meanwhile,binary logistic regression analysis showed that anhedonia was one of a risk factor for suicidal ideation(OR=2.34,95％CI:1.58-3.47,P＜0.001).Conclusion:It suggests that anhedonia maybe partially independent of other depres-sive symptoms and it is one of the risk factors for suicidal ideation in first-episode untreated patients with depressive disorder.

【Objective】 To analyze the clinical characteristics of children with ammonium urate stones in Xinjiang, so as to provide reference for the prevention and treatment of this disease. 【Methods】 The clinical data of all children with ammonium urate stones admitted to the People’s Hospital of Xinjiang Uygur Autonomous Region from 2016 to 2021 were retrospectively analyzed, including age, sex, body mass index, stone site, stone size, stone component, urine pH, urine culture and biochemical examination results. The serum total protein, albumin, sodium, potassium, calcium, magnesium, uric acid and urine pH were compared between the pure and mixed groups. 【Results】 A total of 61 children (31.6%) had ammonium urate stones, their average age was (4.05±3.37) years, and the male to female ratio was 2.21∶1. Among them, there were 37 cases (60.7%) of renal calculi and 50 cases (82.0%) of upper urinary calculi. The most common component of mixed ammonium urate stones was calcium oxalate, including calcium oxalate monohydrate, calcium oxalate monohydrate and calcium oxalate dihydrate. Compared with mixed type, children with pure stone type had a younger age (P=0.001) and a smaller stone size (P=0.003). Positive urine culture was detected in 14 cases (23.0%), 7 of which (50% were infected with Escherichia coli, and 11 (78.6%) with non-urease bacteria. 【Conclusion】 Non-urease bacteria are the main pathogens of urinary tract infection in children with ammonium urate stones. The incidence is higher in boys, and the most common stone location is upper urinary tract. Calcium oxalate is the most common mixed component. Pure type is more common in young children and the stones are relatively small.

Objective:To analyze the composition and clinical characteristics of urinary calculi in infants in Xinjiang.Methods:The clinical data of 75 infants with urinary calculi admitted to the People′s Hospital of Xinjiang Uygur Autonomous Region from January 2016 to December 2021 were retrospectively analyzed, including the general situation of the children, stone-related parameters, random urine pH value, urine culture and biochemical examination results. The serum uric acid, serum calcium, urine pH value, positive rate of urine culture, and stone length between infants with and without ammonium urate stones were compared. Measurement data conforming to normal distribution were expressed as mean ± standard deviation ( ± s), and independent sample t-test was used for inter-group comparison. Measurement data that did not conform to the normal distribution were expressed as the median (interquartile distance) [ M ( Q1, Q3)], and Mann-Whitney U test was used for comparison between groups. The Chi-square test, continuity-corrected Chi-square test or Fisher exact probability method were used for the comparison of count data. Results:The median age of infants with urinary calculi was 23.04 months, and the ratio of male to female was 3.2∶1. More than half of the infants (81.3%, 61/75) came from rural areas, 57.3% (43/75) were malnourished, 33.3% (25/75) were complicated with urinary tract infection, and 8.0% (6/75) were combined with urinary system congenital malformation. The calculi were found in 53 cases (70.67%) of kidney, 27 cases (36.0%) of ureter, 17 cases (22.67%) of urethra and 16 cases (21.33%) of bladder. The analysis of calculi composition showed that there were 44 cases (58.67%) of ammonium urate, 39 cases (52.0%) of calcium oxalate, 14 cases (18.67%) of apatite carbonate and 7 cases (9.33%) of uric acid. Kidney calculi was more common in female infants ( P=0.011). Compared with the infant group ( n=19), calcium oxalate stones were more common in the preschooler group ( n=56) ( P=0.039), but there were not statistical difference in the incidence of ammonium urate, apatite carbonate and uric acid stones. There were not statistical difference in gender, age, place of residence, nutritional status, serum uric acid, serum calcium, urine pH value, positive rate of urine culture, stone maximum diameter and incidence of bladder stones between ammonium urate group and non-ammonium urate group. Conclusions:The incidence of urinary calculi in infants is higher in boys, and the most common site of calculi is the upper urinary tract, especially in female kidney calculi. Ammonium urate is the main component of urinary calculi in infants. Calcium oxalate stones are more common in preschooler group. Infants with urinary calculi are mostly rural residents, and malnutrition and urinary tract infection are more common.