Objective:To investigate the clinical characteristics of encephalocraniocutaneous lipomatosis (ECCL) in pediatric patients.Methods:A retrospective analysis was conducted on the clinical data of 2 ECCL cases admitted to Children′s Hospital Affiliated to Zhengzhou University between January 2024 and December 2024. Additionally, a review of relevant literature was performed to summarize the clinical features of this condition.Results:Case 1 is a male patient aged 2 years and 10 months, while case 2 is a female patient aged 8 months. Both patients presented with seizures and exhibited nevus psiloliparus on the scalp, non-scarring alopecia, nodular skin tags around the eyes, and ocular choristomas. Brain magnetic resonance imaging revealed leptomeningeal angiomatosis in both cases, with case 1 also demonstrating an intracranial lipoma and case 2 showing localized cerebral atrophy and an arachnoid cyst. Whole-exome sequencing of peripheral blood and copy number variation analysis in both cases did not identify any pathogenic variants. Additionally, no relevant pathogenic variants were detected in the scalp lesion tissue of case 2. A review of the literature revealed that, to date, there have been 5 reported domestic cases, 132 reported foreign cases in pediatric populations, totally 139 cases including 2 cases described in this article. Among these patients, 86 are male, 49 are female, and the gender of 4 cases remains unspecified. Clinical manifestations observed included seizures in 79.0% (64/81) of cases and developmental delay in 64.7% (57/88). Cutaneous lesions were characterized by non-scarring alopecia in 100% (97/97) of cases,non-hair-bearing fatty tissue nevi in 98.3% (58/59), nodular skin tags in 96.5% (56/58), and subcutaneous lipomas in 94.8% (73/77). Ocular lesions predominantly involved choristomas, occurring in 91.8% (90/98) of cases. Central nervous system abnormalities were identified as ventricular dilatation or hydrocephalus in 85.0% (68/80) of cases, intracranial lipomas in 82.1% (69/84), localized cerebral atrophy in 80.9% (34/42), intracranial vascular anomalies in 74.1% (23/31), and spinal lipomas in 66.6% (30/45).Conclusions:ECCL is an uncommon neurocutaneous disorder with the potential to impact various organ systems, notably the integumentary, ocular, and central nervous systems. Pediatric patients may exhibit symptoms such as seizures, developmental delays, and additional clinical manifestations, necessitating vigilant monitoring and management.

Objective:To investigate the clinical effect of the divisional design in composite labia minora and clitoral hood reduction.Methods:A retrospective analysis was performed on 57 patients diagnosed with labia minora and clitoral hood hypertrophy at Department of Plastic Surgery, Nanjing Medical University Friendship Plastic Surgery Hospital between July 2018 and May 2021. The ages of the patients ranged from 24 to 45 years with an average of (31.0±8.2) years. Preoperative symptoms and surgical demands included: appearance concerns in 57 cases (100%), irritation during friction in 49 cases (86.0%), and discomfort during intercourse in 22 cases (38.6%). The complex hypertrophy was divided into simple labia minora hypertrophy and clitoral hood hypertrophy. Then the reduction of clitoris hood was performed according to the prepuce morphology, and labiaplasty was performed using edge resection. The operative effects, patient satisfaction, and postoperative complications were assessed.Results:All incisions healed primarily with no flap necrosis or marginal infections. Hematoma occurred in 1 case which recovered well after timely treatment. All patients were followed up for 3-12 months. 54 cases were satisfied with the labia minora and clitoral hood shape and reported no sensory abnormality. Bilateral asymmetry occurred in 2 cases, one of which required further surgical repair. Scar hyperplasia occurred and was gradually softened after 6 months in 1 case. Of the 57 patients with appearance concerns, 55 (96.5%) patients reported improved appearance postoperatively. Of the 49 patients with preoperative friction discomfort, 47 (95.9%) patients achieved symptom relief. Of the 22 patients reporting sexual discomfort, 15 (68.1%) patients noted enhanced sexual satisfaction postoperatively. Overall, 54 (94.7%) patients were satisfied, 2 (3.5%) patients were moderately satisfied, and 1 (1.8%) patient was unsatisfied.Conclusions:For patients with labia minora and clitoral hood hypertrophy, the application of divisional design is surgically simple and safe. It achieves satisfactory outcomes with no severe adverse reactions.

Objective:To investigate the clinical characteristics of encephalocraniocutaneous lipomatosis (ECCL) in pediatric patients.Methods:A retrospective analysis was conducted on the clinical data of 2 ECCL cases admitted to Children′s Hospital Affiliated to Zhengzhou University between January 2024 and December 2024. Additionally, a review of relevant literature was performed to summarize the clinical features of this condition.Results:Case 1 is a male patient aged 2 years and 10 months, while case 2 is a female patient aged 8 months. Both patients presented with seizures and exhibited nevus psiloliparus on the scalp, non-scarring alopecia, nodular skin tags around the eyes, and ocular choristomas. Brain magnetic resonance imaging revealed leptomeningeal angiomatosis in both cases, with case 1 also demonstrating an intracranial lipoma and case 2 showing localized cerebral atrophy and an arachnoid cyst. Whole-exome sequencing of peripheral blood and copy number variation analysis in both cases did not identify any pathogenic variants. Additionally, no relevant pathogenic variants were detected in the scalp lesion tissue of case 2. A review of the literature revealed that, to date, there have been 5 reported domestic cases, 132 reported foreign cases in pediatric populations, totally 139 cases including 2 cases described in this article. Among these patients, 86 are male, 49 are female, and the gender of 4 cases remains unspecified. Clinical manifestations observed included seizures in 79.0% (64/81) of cases and developmental delay in 64.7% (57/88). Cutaneous lesions were characterized by non-scarring alopecia in 100% (97/97) of cases,non-hair-bearing fatty tissue nevi in 98.3% (58/59), nodular skin tags in 96.5% (56/58), and subcutaneous lipomas in 94.8% (73/77). Ocular lesions predominantly involved choristomas, occurring in 91.8% (90/98) of cases. Central nervous system abnormalities were identified as ventricular dilatation or hydrocephalus in 85.0% (68/80) of cases, intracranial lipomas in 82.1% (69/84), localized cerebral atrophy in 80.9% (34/42), intracranial vascular anomalies in 74.1% (23/31), and spinal lipomas in 66.6% (30/45).Conclusions:ECCL is an uncommon neurocutaneous disorder with the potential to impact various organ systems, notably the integumentary, ocular, and central nervous systems. Pediatric patients may exhibit symptoms such as seizures, developmental delays, and additional clinical manifestations, necessitating vigilant monitoring and management.

Objective:To investigate the clinical effect of the divisional design in composite labia minora and clitoral hood reduction.Methods:A retrospective analysis was performed on 57 patients diagnosed with labia minora and clitoral hood hypertrophy at Department of Plastic Surgery, Nanjing Medical University Friendship Plastic Surgery Hospital between July 2018 and May 2021. The ages of the patients ranged from 24 to 45 years with an average of (31.0±8.2) years. Preoperative symptoms and surgical demands included: appearance concerns in 57 cases (100%), irritation during friction in 49 cases (86.0%), and discomfort during intercourse in 22 cases (38.6%). The complex hypertrophy was divided into simple labia minora hypertrophy and clitoral hood hypertrophy. Then the reduction of clitoris hood was performed according to the prepuce morphology, and labiaplasty was performed using edge resection. The operative effects, patient satisfaction, and postoperative complications were assessed.Results:All incisions healed primarily with no flap necrosis or marginal infections. Hematoma occurred in 1 case which recovered well after timely treatment. All patients were followed up for 3-12 months. 54 cases were satisfied with the labia minora and clitoral hood shape and reported no sensory abnormality. Bilateral asymmetry occurred in 2 cases, one of which required further surgical repair. Scar hyperplasia occurred and was gradually softened after 6 months in 1 case. Of the 57 patients with appearance concerns, 55 (96.5%) patients reported improved appearance postoperatively. Of the 49 patients with preoperative friction discomfort, 47 (95.9%) patients achieved symptom relief. Of the 22 patients reporting sexual discomfort, 15 (68.1%) patients noted enhanced sexual satisfaction postoperatively. Overall, 54 (94.7%) patients were satisfied, 2 (3.5%) patients were moderately satisfied, and 1 (1.8%) patient was unsatisfied.Conclusions:For patients with labia minora and clitoral hood hypertrophy, the application of divisional design is surgically simple and safe. It achieves satisfactory outcomes with no severe adverse reactions.

Objective:To evaluate the effect of ultrasound-guided subserratus anterior plane block on postoperative analgesia in patients un-dergoing laparoscopic radical gastrectomy.Methods:Sixty patients who underwent elective laparoscopic radical gastrectomy were enrolled between May 2022 and October 2023 at Tianjin Medical University Cancer Institute&Hospital.Patients were assigned into two groups us-ing a random number table method:the control(group C)and the ultrasound-guided serratus anterior plane block(SAPB)(group S).Patient-controlled intravenous analgesia(PCIA)was administered at the end of the surgery.After surgery,visual analogue scale(VAS)of static pain scores was evaluated at 1,6,12,24,and 48 hours.PCIA pump was started at the VAS pain score≥4 after surgery,and sufentanil 0.1μg/kg was intravenously injected when the efficacy was inadequate.The requirement for PCIA use,time to first postoperative anal exhaust,first postoperative out-of-bed activity,first oral intake,and the duration of hospitalization stay were recorded for the two groups.Results:VAS scores were significantly lower at postoperative 1,6,and 12 h in group S than in group C(P<0.05).Additionally,the number of effective uses of PCIA,and rescue analgesia were significantly lower in group S[(6.1±0.4)(2)]than in group C[(18.6±1.4)(17)](P<0.001).The time to first postoperative anal exhaust,first postoperative out-of-bed activity,first oral intake,and duration of hospital stay were shortened in group S than in group C(P<0.05).There were no significant differences in other parameters between these two groups.Conclusion:Ultrasound-guided SAPB can reduce postoperative pain and facilitate fast recovery in laparoscopic radical gastrectomy patients.

Objective:To evaluate the effect of ultrasound-guided internal branch of superior laryngeal nerve(ibSLN) block on the quality of anesthesia recovery in the patients undergoing intracranial tumor surgery.Methods:The data from patients of either gender, aged 18-65 yr, with a body mass index of 18-28 kg/m 2, who underwent intracranial tumor surgery from December 2022 to October 2023, were retrospectively collected. Patients were divided into control group (group C) and ultrasound-guided ibSLN block group (group U). Bilateral ibSLN block was performed with 0.375% ropivacaine hydrochloride 2 ml.The tracheal extubation time, emergence time, development of cardiovascular events within 15 min after extubation, emergence agitation, Ramsay sedation score, Steward recovery score, visual analogue scale scores at 10 min after extubation and development of postoperative sore throat and hoarseness in postanesthesia care unit were recorded. Results:Compared with group C, the incidence of emergence agitation, Ramsay sedation score, visual analogue scale scores and sore throat were significantly decreased, the incidence of hoarseness was increased ( P<0.05), and no significant change was found in the extubation time, emergence time and Steward recovery score in group U( P>0.05). No hypertension, hypotension, tachachycardia and bradycardia were found in two groups. Conclusions:Ultrasound-guided ibSLN block can improve the quality of anesthesia recovery in the patients undergoing intracranial tumor surgery.

Objective:To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age.Methods:Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were analyzed. Totally 220 genes which inherited in a recessive manner of 216-ECS panel were included in the analysis. The analysis included variant carrier rate, gene carrier rate, cumulative carrier rate, at-risk couple rates, and variant spectrum.Results:(1) Pathogenic variants were identified in 1 472 (47.53%, 1 472/3 097) individuals, with an average of 0.65 pathogenic variants per individual. The rate of at-risk couples was 3.93% (56/1 424). (2) A total of 180 genes were identified, with 16 genes exhibiting a gene carrier rate of ≥1% and 33 genes having a rate of ≥0.5%, most of which were associated with inherited metabolic diseases. Noteworthy genes with higher gene carrier rates and high-frequency variants included GJB2: c.235del, PAH: c.728G>A, ATP7B: c.2333G>T, SLC26A4: c.919-2A>G, GALC: c.1901T>C, POLG: c.2890C>T, SLC22A5: c.1472C>G, USH2A: c.2802T>G, SLC25A13: c.852_855del, GAA: c.761C>T and c.752C>T. Conclusion:This study offers a focused analysis of carrier frequencies and hot-spot variants of 216 diseases of the ECS panel constructed by our laboratory among the Chinese population, laying a foundation for the development of ECS programs tailored to the Chinese population.

ObjectiveTo develop a deep learning system for early ultrasound screening of developmental dysplasia of the hip （DDH）， a new smart-hip ultrasound technique （S-hip）， and to validate its clinical application. MethodsWe selected 11，100 annotated and reviewed coronal ultrasound images of infant hips between November 2021 and August 2022， 8，100 of which were used for the training set and 3，000 for the test set， to build a S-hip deep learning system. To verify the consistency between the automated measurement by S-hip and the manual measurements by sonographers， 174 standard coronal ultrasound images of 87 infants' bilateral hips were acquired， then α angle， β angle and femoral head coverage （FHC） were measured by S-hip， an ultrasound expert and a resident. The measurement data and the time required for the measurements were recorded and statistically analyzed. Another 100 standard coronal ultrasound images of the hips were randomly selected and measured twice respectively by the ultrasound expert and resident to assess the intra-sonographer repeatability. ResultsThe intraclass correlation coefficient （ICC） （95% CI） values of α angle， β angle and FHC results measured by S-hip and ultrasound expert were 0.799 （0.738， 0.847）， 0.798 （0.737， 0.846） and 0.934 （0.954， 0.975）， respectively. Those values measured by the ultrasound expert and resident were 0.725 （0.645， 0.789）， 0.674 （0.583， 0.748） and 0.931 （0.908， 0.949）， respectively. The mean absolute errors （MAE） of α angle， β angle and FHC results between measurements by S-hip and ultrasound expert were 2.69 °， 4.43 ° and 2.47%， respectively. The time required for measurements by S-hip， ultrasound expert and resident was （1.59±0.36） s， （18.76±2.23） s and （19.45±2.76） s， respectively. The automated measurement by S-hip cost much shorter time than the manual measurements by sonographers and the difference was statistically significant （P<0.001）. The ICC （95% CI） values of α angle， β angle and FHC results between two measurements by the ultrasound expert were 0.943 （0.916， 0.961）， 0.959 （0.940， 0.972）， and 0.981 （0.971， 0.987）， respectively. Those values by the ultrasound resident were 0.884 （0.833， 0.921）， 0.921 （0.884， 0.946）， and 0.962 （0.944， 0.974）. ConclusionThe S-hip based on a deep learning system is a highly reliable automated technique to accurately measure α angle， β angle and FHC. Compared with ultrasound residents， S-hip allows for a more simplified and significantly quicker measurement， which may enhance the widespread use of hip ultrasound screening in infants.

Objective:To investigate the clinical characteristics of patients with keratoconus, and to explore the factors influencing keratoconus severity.Methods:A cross-sectional study was performed.A total of 908 patients (1 476 eyes) with primary keratoconus were enrolled in Henan Eye Hospital from January 2019 to December 2021.The medical history data of patients were collected by face-to-face questionnaire survey.Refractive parameters were measured by subjective optometry.Intraocular pressure (IOP) was measured by a non-contact tonometer, and corrected IOP was calculated by Dresden formula.Corneal topography parameters was obtained using Pentacam HR.The subgroup analysis of clinical characteristics of all patients was performed by age (<21 years, 21~<31 years, ≥31 years) and gender.Disease severity was graded based on steep keratometry (Ks), namely mild (Ks<48 D), moderate (48 D≤Ks<55 D) and severe (Ks≥55 D). The influencing factors of disease severity in keratoconus were analyzed by ordered Logistic regression.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[5]). All subjects or guardians were informed of the purpose and significance of the study and written informed consent was obtained.Results:Of the 908 patients, 622 were with bilateral keratoconus and 286 were with unilateral keratoconus.The median age of onset was 20(17, 26) years, and the median age of diagnosis was 21(18, 27) years.The ratio of males to females was 3.05∶1.There were 9.80%(89/908) of the patients having a history of allergy, 25.55%(232/908) having a history of other systemic diseases, and 1.98%(18/908) having a family history of keratoconus.Of the 1 476 affected eyes, 27.57%(407/1 476) were diagnosed as severe keratoconus, and 61.94%(568/917) had a history of eye rubbing.The medians of sphericity, cylindricity, IOP, corrected IOP, Ks, thinnest corneal thickness (TCT), anterior corneal surface elevation (AE) and posterior corneal surface elevation (PE) were -4.00(-7.00, -1.75)D, -3.50(-6.00, -1.50)D, 12.00(10.30, 13.80)mmHg, 15.40(13.60, 17.00)mmHg, 49.85(46.40, 54.90)D, 460.00(425.00, 490.00)μm, 21.00(13.00, 34.75)μm, 51.00(33.00, 75.00)μm, respectively.The spherical refraction, IOP and corrected IOP were lower and the cylindrical refraction was higher in patients at age <21 years than in patients at age 21~<31 years, and the TCT of patients at age <21 years was higher than that at age ≥31 years, and the differences were statistically significant (all at P<0.05). Compared with female patients, male patients had younger onset age, lower spherical refraction, IOP and corrected IOP, as well as higher cylindrical refraction, AE and PE, showing statistically significant differences (all at P<0.05). The spherical refraction and IOP of male patients were lower than those of female patients at age <21 years, and the cylindrical refraction was higher in males than in females among the patients at age 21~<31 years, and the differences were statistically significant (both at P<0.05). Among the patients with onset age <21 years and diagnosis age <21 years, the ratio of males to females in patients with severe keratoconus was higher than those with mild and moderate disease, and the difference was statistically significant (both at P<0.05). Older age of onset was a protective factor for disease severity in keratoconus (odds ratio=0.981, 95% confidence interval: 0.963~0.999). Conclusions:The younger the onset age of keratoconus patients, the more severe the disease.Among the patients with severe keratoconus, there were more male patients, and males have a younger onset age and severer conditions.It is suggested that early screening of keratoconus in children and adolescents should be strengthened in clinical work, and more active prevention and treatment measures should be taken for younger patients, especially males.

Objective:To evaluate the effect of stroke volume variation (SVV)-guided fluid therapy on perioperative haemodynamics and tissue perfusion in the patients with end-stage renal disease (ESRD) undergoing parathyroidectomy.Methods:One hundred and twenty-one patients of either sex, aged 18-64 yr, of American Society of Anesthesiologists Physical Status classification Ⅲ, with body mass index of 18-28 kg/m 2, with ESRD undergoing elective parathyroidectomy, who received haemodialysis treatment within 24 h before surgery, were enrolled in this study. The patients were divided into standard restrictive fluid therapy group (group SRT, n=61) and goal-directed fluid therapy group (group GDT, n=60) using a random number table method. Group SRT received restrictive fluid therapy, with a continuous infusion of 0.9% normal saline at a rate of 4 ml·kg -1·h -1. Group GDT received goal-directed fluid therapy guided by SVV, and when the SVV≥10% lasted for 5 min, the 0.9% normal saline 3 ml/kg was infused within 5 min until SVV<10%. Systolic blood pressure (SBP) was maintained at ≥90 mmHg or mean arterial pressure(MAP) at ≥65 mmHg throughout the perioperative period in both groups. The intraoperative volume of fluid infused, usage rate and consumption of intraoperative vasoactive drugs were recorded, and arterial blood lactate (Lac) level, MAP, heart rate, cardiac output, and inferior vena cava collapse index (IVC-CI) after removal of endotracheal tube at the end of surgery were measured. MAP was continuously recorded within 12 h after surgery, and MAP variability (CV MAP) was calculated. The occurrence of cardiovascular and cerebrovascular events within 30 days after operation was also recorded. Results:Compared with group SRT, the intraoperative volume of fluid infused was significantly increased, the usage rate of ephedrine and norepinephrine was decreased, the consumption of ephedrine was reduced, and the percentage of postoperative IVC-CI<50% and cardiac output were increased, the percentage of Lac≥2.0 mmol/L and CV MAP were decreased ( P<0.05), and no significant change was found in the incidence of cardiovascular and cerebrovascular events within 30 days after surgery in group GDT ( P>0.05). Conclusions:Compared with restrictive fluid therapy, SVV-guided fluid therapy can optimize the perioperative hemodynamics and tissue perfusion in the patients with ESRD undergoing parathyroidectomy.