Cornelia de Lange syndrome is a rare congenital malformation disease,and its typical features include growth restriction,mental retardation,craniofacial abnormality and hirsutism.This study reported 2 cases of CdLS patients,summarized their clinical manifestations and gene mutation characteristics,and the relevant literatures were reviewed.Patient 1,a 5-year-old girl,was admitted to the hospital due to growth retardation.Physical examination revealed hirsutism,monobrow,small and sparse teeth,hemangiomas(approximately 2 cm×2 cm)on the chest and back,delayed language development,and intellectual disability.The height was 98 cm[≤-2 standard deviation(SD)],the weight was 15 kg(-2SD--1SD),the head circumference was 46 cm(-3SD--2SD).Brain magnetic resonance imaging(MRI)plain scan showed slightly enlarged left lateral ventricle and bilateral lateral ventricle triangles,slightly thickened bilateral maxillary sinus and ethmoid sinus mucosa.Echocardiography revealed mild regurgitation of the mitral and tricuspid valves.Patient 2,a 1-month-old girl,was admitted to the hospital due to postpartum shortness of breath.The physical examination highlighted hirsutism,short nose,soft cleft palate,dysphagia,positive three-concave sign,audible throat sound,small hands,palm penetration in the left hand,short fifth finger of the right hand,limited right hip abduction,foot varus,and a white spot at the bottom of the right eye.Ultrasonography at 1 month showed mild regurgitation of the tricuspid valve and an open foramen ovale.Brain MRI at 2 d showed a few patchy low-signal shadows in the longitudinal fissure cistern and tentorium,a small amount of subarachnoid hemorrhage,and a small amount of fluid in the bilateral maxillary sinus,ethmoid sinus,and middle ear mastoid.No obvious structural or numerical abnormalities were observed in the chromosome karyotypes.Whole-exome sequencing detected a heterozygous variation of c.6653_6655del in the NIPBL gene in patient 1 and a heterozygous variation of c.337C＞T in the NIPBL gene in patient 2.These variations were not found in their parents.The study revealed that NIPBL gene variation could be the genetic cause of the two patients with CdLS.The identification of the variation c.337C＞T may expand the variation spectrum of the NIPBL gene,providing valuable insights into the pathogenic genetic basis of CdLS.

OBJECTIVE: To explore the feasibility and effectiveness of repairing surgical defect in pharyngo-laryngeal malignant tumor with free rectus femoris flap. METHODS: The clinical data of 34 patients with surgical defects in pharyngo-laryngeal malignant tumor who met the selection criteria between July 2014 and August 2024 were retrospectively analyzed. There were 25 males and 9 females, aged 25-82 years, with a median age of 54 years. The disease duration ranged from 2 months to 2 years, with a median of 7 months. The tumor locations included the oropharynx, hypopharynx, cervical esophagus, and larynx. Pathological types included squamous cell carcinoma (29 cases), myoepithelial carcinoma (2 cases), adenoid cystic carcinoma (1 case), and diffuse large B-cell lymphoma (2 cases). TNM staging: 16 cases of T ₄N ₁M ₀, 3 cases of T ₄N ₂M ₀, 3 cases of T ₄N ₀M ₀, 10 cases of T ₃N ₁M ₀, and 2 cases of T ₃N ₀M ₀. The 2017 American Joint Committee on Cancer (AJCC) staging was stage Ⅲ in 2 cases and stage Ⅳ in 32 cases. The blood supply of the proximal rectus femoris muscle was observed by enhanced CT of the lower limb vessels before operation, and the surgical defects ranged from 3.0 cm×2.0 cm to 12.0 cm×8.5 cm. The blood supply and perforators of rectus femoris muscle were explored during operation, and the free rectus femoris flap pedicled with the direct vascular stem of rectus femoris muscle was used to repair the defect. For the patients with pharyngeal fistula or obvious neck swelling after operation, the blood supply of the flap was analyzed by vascular enhanced CT to determine the corresponding strategies of nutritional support, anti-infection, dressing change and drainage. Radiotherapy and chemotherapy were supplemented in 27 patients with lymph node metastasis after operation. RESULTS: All the 34 patients were followed up 1-10 years, with an average of 3 years. The flap was found to be necrotic by fibrolaryngoscopy at 1 week after operation in 2 cases, and the incision healed after dressing change and nutritional support, and no reoperation was performed. The flap was in good condition at 1 week after operation in 4 cases, and the signs of gradual necrosis of the flap were found within 1 month after operation, of which 2 cases were healed after dressing change, 1 case was removed the necrotic tissue by reoperation, and 1 case was healed after pectoralis major myocutaneous flap was used to repair the pharyngeal tissue defect. The flaps survived in 28 cases, including 4 cases of pharyngeal fistula, which healed by dressing change. Twenty-two cases achieved satisfactory results in swallowing or phonation. Two patients with total laryngectomy and voice reconstruction underwent reoperation to seal the voice tube because of postoperative aspiration. During the follow-up, 1 case had tracheal stomal recurrence, 2 cases had bone metastasis, and 1 case had bone and lung metastasis. CONCLUSION The free rectus femoris flap has good flexibility, the volume of the flap is easy to adjust, and the incision of the donor site is concealed, which is expected to become a new choice for the repair of the surgical defect in pharyngo-laryngeal malignant tumor.
Humans ; Male ; Middle Aged ; Female ; Aged ; Adult ; Plastic Surgery Procedures/methods* ; Retrospective Studies ; Laryngeal Neoplasms/pathology* ; Aged, 80 and over ; Pharyngeal Neoplasms/pathology* ; Free Tissue Flaps/blood supply* ; Quadriceps Muscle/transplantation* ; Surgical Wound/surgery* ; Treatment Outcome

Objective:To analyze the incidence and influencing factors of lymphopenia in prostate cancer patients undergoing pelvic radiotherapy.Methods:A retrospective analysis was conducted on 123 prostate cancer patients treated at the Department of Radiation Oncology, Peking University First Hospital, from November 2011 to May 2015. Radiotherapy was administered using conventional fractionated intensity-modulated radiotherapy. Blood routine, including absolute lymphocyte count (ALC), was performed on patients before radiotherapy, weekly during radiotherapy, and at the end of radiotherapy. Severe lymphopenia was defined as an ALC <500 cells/μl. Based on whether the minimum ALC during radiotherapy was lower than 500 cells/μl, the entire cohort and 55 patients (excluding those with undelineated pelvic bone marrow due to radiotherapy planning system issues) with delineated pelvic bone marrow (divided into pelvic bone marrow, iliac bone marrow, and lower pelvic bone marrow) were stratified into a severe lymphopenia group (33 cases and 16 cases, respectively) and a mild lymphopenia group (90 cases and 39 cases, respectively). Differences in clinical factors and dosimetric parameters were compared between the groups using the chi-square test (or Fisher's exact test), t-test, and Wilcoxon rank-sum test. Univariate and multivariate logistic regression analyses were performed to identify the clinical and dosimetric factors influencing severe lymphopenia. Results:All 123 prostate cancer patients experienced lymphopenia during radiotherapy, with a median minimum ALC of 0.6×10 9/L [range: (0.2-2.3)×10 9/L]. Severe lymphopenia occurred in 26.8% (33 cases) of patients. Univariate analysis of the entire cohort showed that pre-radiotherapy baseline ALC, initial neutrophil-to-lymphocyte ratio, prostate-specific antigen value, Gleason score, and pelvic radiotherapy were promoting factors for severe lymphopenia ( P<0.05). Multivariate analysis identified pre-radiotherapy baseline ALC ( OR=0.217, 95% CI: 0.072-0.650, P=0.006) and pelvic radiotherapy ( OR=23.852, 95% CI: 2.834-200.787, P=0.004) as promoting factors for severe lymphopenia. In patients with delineated pelvic bone marrow, univariate analysis showed that pelvic bone marrow V 30 Gy and V 40 Gy, iliac bone marrow V 30 Gy and V 40 Gy, lower pelvic bone marrow V 30 Gy and V 40 Gy were promoting factors for severe lymphopenia during treatment ( P<0.05). Conclusions:Lymphopenia is common in prostate cancer patients undergoing radiotherapy, with a high incidence of severe lymphopenia. Pre-radiotherapy baseline ALC, as well as pelvic, iliac, and lower pelvic bone marrow V 30 Gy and V 40 Gy, are promoting factors for severe lymphopenia during radiotherapy.

Background and Aims:Early-onset extensive emphysematous pancreatitis(EP)is a rare but highly lethal subtype of infected pancreatic necrosis(IPN),characterized by abrupt onset and rapid deterioration.This study aimed to investigate its clinical characteristics,microbiological spectrum,treatment approaches,and outcomes to provide evidence for early identification and timely intervention.Methods:A retrospective analysis was performed on 305 IPN patients treated at Xiangya Hospital,Central South University,from January 2010 to October 2023.Eight patients who developed gas accumulation involving≥50%of pancreatic or peripancreatic necrosis within two weeks of onset were defined as early-onset extensive EP.Their clinical data were compared with those of ordinary IPN patients.Results:Early-onset extensive EP accounted for 2.6%of all IPN cases.The early-onset extensive EP group had significantly higher mortality and multiple organ failure rates compared with the ordinary IPN group(75.0%vs.24.6%and 75.0%vs.34.7%,respectively;both P<0.05).A total of 15 microbial isolates were identified from early-onset extensive EP patients,predominantly Klebsiella pneumoniae(62.5%)and Escherichia coli(37.5%).The infection rate of carbapenem-resistant Enterobacteriaceae(CRE)was markedly higher in the EP group than in the ordinary IPN group(75.0%vs.31.1%,P=0.015).Most patients were treated using a step-up approach based on percutaneous catheter drainage,with no significant difference in treatment strategy between the two groups(P=0.625).Conclusion:Early-onset extensive EP represents a rare and fulminant subtype of IPN with extremely poor outcomes.Klebsiella pneumoniae and CRE are the predominant pathogens.Early radiological evaluation and timely intervention are crucial for improving prognosis in these patients.

Objective:To explore the chain mediating effect of coping style and illness perception between intolerance of uncertainty and fear of disease progression in patients with intracranial aneurysm.Methods:A total of 270 patients with intracranial aneurysms admitted to the neurosurgery department of 2 hospitals in Guangzhou from October 2023 to June 2024 were selected by convenience sampling method. The general information questionnaire, intolerance of uncertainty scale-12, the brief disease perception questionnaire, medical coping mode questionnaire(MCMQ) and fear of progression questionnaire-short form were used to investigate the subjects. Statistical description and Spearman correlation analysis were performed using IBM SPSS 25.0 software, and AMOS 23.0 software was used to test and correct the structural equation models.Results:The total score of fear of disease progression in patients with intracranial aneurysms was 27.50(20.00, 34.00). The total score of intolerance of uncertainty was 23.50(19.75, 29.00). The sores of confrontation, avoidance and submission in MCMQ were 18.69±5.44, 12.00(10.00, 15.00) and 7.00(5.00, 9.00), respectively.The total score of illness perception was 37.23±11.60. Fear of disease progression was positively correlated with intolerance of uncertainty, submission and illness perception ( r=0.614, 0.696, 0.680, all P<0.01). The direct effect of intolerance of uncertainty on fear of disease progression was significant in patients with intracranial aneurysms ( β=0.431, P<0.001). Intolerance of uncertainty indirectly affected fear of disease progression through submission ( β=0.181, P<0.001) and illness perception ( β=0.092, P<0.001). Submission and illness perception played chain-mediating effect in the relationship between intolerance of uncertainty and fear of disease progression ( β=0.103, P<0.001). Conclusion:The intolerance of uncertainty in patients with intracranial aneurysms can positively predict the fear of disease progression. Submission and illness perception played a chain mediating role between intolerance of uncertainty and fear of disease progression in patients with intracranial aneurysms.

Objective To introduce the formulation and effect evaluation of performance appraisal scheme for pharmacists in comprehensive pharmacy.Methods A comprehensive evaluation method formulated by critical event method and grade scoring method was adopted to evaluate the workload,work ability,learning ability,and work discipline.Results From September 2022 to August 2023,the average score of monthly pharmacist assessment increased from 73.9 to 87.9,the satisfaction rate increased from(7.5±1.52)to(11.5±2.66)(P＜0.05),and the number of patients with drug consultation increased from 5 cases to 61 cases.Conclusion The performance appraisal scheme can significantly improve the work ability and enthusiasm of pharmacists.

Objective To construct a decision support education program for the family members of patients with advanced cancer and to investigate its application effects,so as to improve understanding and acceptance of hospice care for family members of advanced cancer patients.Methods Using the Ottawa Decision Support Framework as a theoretical guide,the program was initially drafted based on a literature review,qualitative interview and expert consultation.From September 2023 to January 2024,a convenience sampling method was used to select patients' families in a tertiary-level hospital in Tianjin as the research subjects,and they were randomly divided into an experimental group and a control group.The experimental group received the decision support education program in addition to routine care,while the control group received routine care.Family members' knowledge about hospice,the scores on the Death Attitude Profile Scale,and their willingness to choose hospice care were compared before and after the interventions.Results The program finally included 4 first-level items,15 second-level items,and 59 third-level items.During the program implementation phase,4 cases withdrew from the study,resulting in 46 cases in the experimental group and 47 cases in the control group.After intervention,the experimental group had higher scores on hospice knowledge and positive attitude towards death than the control group,while scores on negative attitude towards death were lower(P＜0.05);their willingness to choose hospice care for themselves and for the patients was higher than that of the control group(P＜0.05).Conclusion The hospice care decision support education program is scientific,feasible and practical,which can improve the knowledge of hospice care of the family members,improve their attitude towards death,and ultimately improve their willingness to choose hospice care.

Objective To introduce the formulation and effect evaluation of performance appraisal scheme for pharmacists in comprehensive pharmacy.Methods A comprehensive evaluation method formulated by critical event method and grade scoring method was adopted to evaluate the workload,work ability,learning ability,and work discipline.Results From September 2022 to August 2023,the average score of monthly pharmacist assessment increased from 73.9 to 87.9,the satisfaction rate increased from(7.5±1.52)to(11.5±2.66)(P＜0.05),and the number of patients with drug consultation increased from 5 cases to 61 cases.Conclusion The performance appraisal scheme can significantly improve the work ability and enthusiasm of pharmacists.

Objective:To explore the chain mediating effect of coping style and illness perception between intolerance of uncertainty and fear of disease progression in patients with intracranial aneurysm.Methods:A total of 270 patients with intracranial aneurysms admitted to the neurosurgery department of 2 hospitals in Guangzhou from October 2023 to June 2024 were selected by convenience sampling method. The general information questionnaire, intolerance of uncertainty scale-12, the brief disease perception questionnaire, medical coping mode questionnaire(MCMQ) and fear of progression questionnaire-short form were used to investigate the subjects. Statistical description and Spearman correlation analysis were performed using IBM SPSS 25.0 software, and AMOS 23.0 software was used to test and correct the structural equation models.Results:The total score of fear of disease progression in patients with intracranial aneurysms was 27.50(20.00, 34.00). The total score of intolerance of uncertainty was 23.50(19.75, 29.00). The sores of confrontation, avoidance and submission in MCMQ were 18.69±5.44, 12.00(10.00, 15.00) and 7.00(5.00, 9.00), respectively.The total score of illness perception was 37.23±11.60. Fear of disease progression was positively correlated with intolerance of uncertainty, submission and illness perception ( r=0.614, 0.696, 0.680, all P<0.01). The direct effect of intolerance of uncertainty on fear of disease progression was significant in patients with intracranial aneurysms ( β=0.431, P<0.001). Intolerance of uncertainty indirectly affected fear of disease progression through submission ( β=0.181, P<0.001) and illness perception ( β=0.092, P<0.001). Submission and illness perception played chain-mediating effect in the relationship between intolerance of uncertainty and fear of disease progression ( β=0.103, P<0.001). Conclusion:The intolerance of uncertainty in patients with intracranial aneurysms can positively predict the fear of disease progression. Submission and illness perception played a chain mediating role between intolerance of uncertainty and fear of disease progression in patients with intracranial aneurysms.

Objective:To explore the current situation and influencing factors of home care needs of primary caregivers of stroke patients based on the existence-relatedness-growth (ERG) need theory, so as to provide reference for the development of effective intervention programs in the future.Methods:The supplemental sequential mixed methods design was adopted. From December 2023 to June 2024, convenience sampling was used to select the primary home caregivers ( n=210) of stroke patients as study subjects in community health service centers in Guangzhou. The survey was conducted using the General Information Questionnaire, Barthel Index, and Professional Care Needs Questionnaire for Family Caregivers of Stroke. Multiple linear regression was used to analyze the influencing factors of home care need scores. In July 2024, 11 primary home caregivers of stroke patients were selected for semi-structured interviews using purposive sampling method. NVivo14.0 software was used for data storage and processing, and Colaizzi 7-step method was used for extracting and summarizing interview data. Results:In the quantitative study, 210 questionnaires were distributed and 202 were effectively collected, with an effective response rate of 96.19%. The total score for home care needs of 202 primary caregivers was (117.31±13.64). Multiple linear regression analysis showed that patients' marital status, history of falls, activities of daily living, caregiver's educational level, average daily caregiving time, and number of caregivers were the influencing factors of home care need score ( P<0.05). In the qualitative study, three themes were distilled, namely the need for disease knowledge and rehabilitation skills, the need for emotional and psychological interventions, and the need for social resource utilization and economic support. Integrating the results of quantitative and qualitative studies revealed that primary caregivers of stroke patients were characterized by congruence, complementarity, and expansiveness in the three dimensions of ERG needs, respectively. Conclusions:The home care needs of primary caregivers of stroke patients present multidimensional and hierarchical characteristics and are influenced by multiple factors such as the functional status of the patients and the characteristics of the caregivers. The quality of community care services should be strengthened, community resource allocation should be optimized, and training programs based on the hierarchy of needs should be constructed to meet the home care needs of primary caregivers of stroke patients.