Objective: To evaluate the efficacy of modified femoral neck osteotomy (mFNO) in the surgical treatment of patients with ankylosing spondylitis (AS) and severe spinal kyphosis combined with hip flexion contracture.
Methods: A retrospective analysis was conducted on 61 AS patients (103 hips) with spinal kyphosis and hip flexion contracture who underwent pedicle subtraction osteotomy (PSO) and total hip arthroplasty (THA) from January 1, 2019 to November 15, 2023. Data on mFNO operation time, blood loss, preoperative and postoperative values of the angle of the trunk and lower limb (ATL), hip passive range of motion (ROM), visual analogue scale (VAS), and incidence of in-hospital complications were recorded. Statistical analysis was performed using paired-samples t test. P < 0.05 was considered statistically significant.
Results: The study ultimately included 10 cases, 9 males and 1 female, with an average age of (41.30±9.03) years. These patients underwent surgery for a total of 52 times, including 19 hips both receiving mFNO and THA, and 14 times PSO. The average operation time for nine bilateral mFNO was (133.11±34.81) min, with blood loss of (433.33±187.10) mL. A unilateral mFNO took 60 min with 200 mL of blood loss. The preoperative ATL of 19 hips was 40.37°±13.66°, and the postoperative ATL value was 88.47°±12.46° (P < 0.05). The preoperative VAS score was 0, while the postoperative VAS score was 5.95±1.51 (P < 0.05). The preoperative hip extension ROM was 37.37°±18.13°, while the postoperative hip extension ROM was -4.95°±21.24° (P < 0.05). Hip flexion ROM improved from 37.37°±18.13° to 50.79°±20.36° after FNO (P < 0.05). There were three cases of in-hospital complications (3/52, 5.67%): One case of postoperative atelectasis following PSO (1/52, 1.92%), one greater trochanter fracture identified during THA (1/52, 1.92%), and one early dislocation post-THA (1/52, 1.92%).
Conclusion: mFNO significantly improves the ATL in AS patients with severe spinal kyphosis combined with hip flexion contracture, facilitating PSO and THA surgeries.
Objective: To describe the epidemiological distribution of hemorrhoids in a physical examination population in China, which could provide evidence for precision prevention and early intervention of hemorrhoids.
Methods: Chinese subjects over 18 years of age who underwent a physical examination in a nationwide chain of physical examination centers in 2018 were studied in a cross-sectional design, which collected information by a questionnaire and physical examination results from each subject. The epidemiological distribution of hemorrhoids was described using Logistic models. The gender-, age-, and region-detection rates of hemorrhoids were standardized to the Sixth National Population Census of the People's Republic of China (2010).
Results: A total of 2 940 295 adult subjects were included in the study, of whom the average age was (41.7±14.0) years, and 52.6% were females. The standardized detection rate of hemorrhoids was higher for females (43.7%) than that for males (17.7%; P < 0.001) in this study. In the females, the age distribution of hemorrhoids was inverted U-shaped, with the highest standardized detection rate of hemorrhoids in the age group of 30-39 years (63.5%). In the males, the standardized detection rate of hemorrhoids increased along with age, with the highest percentage of 17.2% in the age group of 50-59 years, and the standardized detection rate of hemorrhoids in the age group of 60 and above decreased slightly (P < 0.001 for trend test). The participants with hypertension had a higher standardized detection rate of hemorrhoids than those with normal blood pressure in both males and females (P < 0.001). The standardized detection rate of hemorrhoids showed a positive correlation with body mass index (P < 0.001 for trend test in males).
Conclusion: The detection rate of hemorrhoids varied to gender, age, obesity, and hypertension status, which could help to identify the risk factors and the high-risk sub-groups, and hence to strengthen health education and early detection accordingly, which could eventually reduce the incidence of hemorrhoids and improve the quality of life and health in the Chinese population. This study was conducted in a physical examination population, and the conclusions of this study should be extrapolated with caution.
Objective: To analyze the clinical characteristics of acute and chronic gastrointestinal bleeding in patients with end-stage renal disease (ESRD) after kidney transplantation, to improve the understanding of the causes, diagnosis, treatment and prevention of this complication, and to improve the management of patients with gastrointestinal bleeding after kidney transplantation.
Methods: The clinical, imaging and pathological data of patients with gastrointestinal bleeding after kidney transplantation in the Department of Urology of The First Affiliated Hospital of Anhui Medical University from August, 2015 to December, 2020 were collected. The etiology, early clinical manifestations, abnormal laboratory tests and examinations, treatment procedures, late prevention and treatment measures and outcomes of gastrointestinal bleeding were retrospectively studied, and the relevant literature was summarized and reviewed.
Results: A total of 17 patients were included in this study. Nine patients had chronic small amount of bleeding, hemoglobin gradually decreased, melena and fecal occult blood positive in the early stage, and the general condition was good, vital signs were stable, and were cured by drug treatment. Gastroscopy showed small ulcers with active bleeding foci in 2 cases, and the bleeding was stopped by titanium clips, and the prognosis was good. Gastroscopy showed that the anterior wall longitudinal ulcer at the junction of gastric antrum body was not effective in 1 case, and the small branch of right gastroepithelial artery was embolized, and the patient recovered and discharged after 2 weeks. Gastroscopy showed deep pit ulcer at the lesser curvature of gastric antrum in 1 patient, who underwent distal gastroduodenal artery embolization and had a good prognosis. Gastroscopy showed huge multiple ulcers in the stomach and duodenal bulb in 2 patients, who underwent subtotal gastrectomy and partial duodenectomy, duodenal stump exclusion and remnant gastrojejunostomy. One patient recovered and was discharged, and the other patient died of rebleeding on the 12th day after surgery. Two cases of diverticulum underwent surgical resection of diverticulum, and the prognosis was good.
Conclusion: The onset of gastrointestinal hemorrhage in kidney transplant patients is insidious, and the condition is acute or slow, which can cause different degrees of damage to the patient and the transplanted kidney. Active prevention, early diagnosis, timely drug treatment, if the effect is not good, decisive endoscopic titanium clip hemostasis, transvascular interventional embolization, and even surgical treatment can minimize the harm of gastrointestinal bleeding.
Objective: To delve into the intricate relationship between common genetic variations across the entire genome and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P).
Methods: Utilizing summary statistics data from genome-wide association studies (GWAS), a thorough investigation to evaluate the impact of common variations on the genome were undertook. This involved assessing single nucleotide polymorphism (SNP) heritability across the entire genome, as well as within specific genomic regions. To ensure the robustness of our analysis, stringent quality control measures were applied to the GWAS summary statistics data. Criteria for inclusion encompassed the absence of missing values, a minor allele frequency ≥1%, P-values falling within the range of 0 to 1, and clear SNP strand orientation. SNP meeting these stringent criteria were then meticulously included in our analysis. The SNP heritability of NSCL/P was calculated using linkage disequilibrium score regression. Additionally, hierarchical linkage disequilibrium score regression to partition SNP heritability within coding regions, promoters, introns, enhancers, and super enhancers were employed, and the enrichment levels within different genomic regions using LDSC (v1.0.1) software were further elucidated.
Results: Our study drew upon GWAS summary statistics data obtained from 806 NSCL/P trios, comprising a total of 2 418 individuals from the Chinese population. Following rigorous quality control procedures, 490 593 out of 492 993 SNP were deemed suitable for inclusion in SNP heritability calculations. The observed SNP heritability of NSCL/P was 0.55 (95%CI: 0.28-0.82). Adjusting for the elevated disease pre-valence within our sample, the SNP heritability scaled down to 0.37 (95%CI: 0.19-0.55) based on the prevalence observed in the general Chinese population. Notably, our enrichment analysis unveiled significant enrichment of SNP heritability within enhancer regions (15.70, P=0.04) and super enhancer regions (3.18, P=0.03).
Conclusion: Our study sheds light on the intricate interplay between common genetic variations and the risk of NSCL/P in the Chinese population. By elucidating the SNP heritability landscape across different genomic regions, we contribute valuable insights into the genetic basis of NSCL/P. The significant enrichment of SNP heritability within enhancer and super enhancer regions underscores the potential role of these regulatory elements in shaping the genetic susceptibility to NSCL/P. This paves the way for further research aimed at uncovering novel genetic pathogenic factors underlying NSCL/P pathogenesis.
Rheumatoid arthritis (RA) is a common chronic autoimmune inflammatory disease, characterized by persistent polyarthritis. Patients with RA may exhibit varying degrees of B lymphocyte activation, clinically manifested as enlarged lymph nodes. Disease-modifying anti-rheumatic drugs and glucocorticoid are often used to treat RA. Biological agents targeting tumor necrosis factor alpha, interleukin-6(IL-6), and B lymphocytes are often used to treat rheumatoid arthritis. Castleman disease (CD) is a rare benign lymphoproliferative disorder. Histopathological examination is the most important method to diagnose this disease. Based on the different lymph node involvement areas CD can be divided into unicentric CD(UCD) and multicentric CD(MCD). Surgical removal of lymph nodes is a common treatment method for UCD. MCD often requires chemotherapeutic drugs combined with glucocorticoid therapy. For the most recent years, biological agents targeting IL-6 and B lymphocytes have shown good curative effects on CD. In the past, patients with rheumatic immune disease accompanied by Castleman like histopathology in lymph nodes were commonly referred to as rheumatic immune disease combined with CD. In 2021, experts unanimously agreed that autoimmune diseases with Castleman like lymphadenopathy should be diagnosed as rheumatic autoimmune diseases with Castleman like histopathology in lymph nodes. This report introduces a 65-year-old female patient with rheumatoid arthritis who was admitted to the hospital due to joint swelling and pain. Physical and chemical examinations after admission showed that rheumatoid arthritis was in an active phase. Chest CT revealed multiple enlarged lymph nodes in the right armpit. Then it was removed by surgery. The histopathological report showed that the lymphatic sinus disappeared, the lymphoid tissue proliferated, the lymphoid follicles increased, and the size was inconsistent. The small lymphocytes around the germinal centers of some follicles were concentric circles, and the follicular interstitial blood vessels proliferated. She was diagnosed with rheumatoid arthritis with Castleman like histopathology in lymph nodes and was treated with methotrexate and hydroxychloroquine sulfate combined with glucocorticoids. The patient was followed up for 2 years. In the first year after sur-gery, the patient' s condition remained stable and there was no growth of lymph nodes in the right axilla. The patient passed away due to severe infection in the second year after the surgery.
Objective: To analyze the clinical diagnosis, treatment, and prognosis of the patients with pyridoxine-dependent epilepsy (PDE) characterized by infantile epileptic spasm syndrome (IESS).
Methods: A total of 75 PDE patients with ALDH7A1 variants were diagnosed at the Department of Pediatrics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024, and five PDE patients with the phenotype of IESS were selected. The clinical manifestations, treatment, blood biochemistry, metabolic screening, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), and gene testing results of the five PDE patients were analyzed.
Results: Among the five patients diagnosed with PDE, three were female and two were male, and the phenotype was consistent with IESS. The age at the last follow-up was from one year and 3 months to 11 years and 9 months. All the five cases were delivered at term. Two cases had anoxia and asphyxia at birth, and three cases had normal birth history. The onset age of seizure ranged from one day to 4 months after birth. One case presented with epileptic spasms (ES), and three cases presented with focal seizure and ES. The other patient was started with ES, followed by multiple seizure types, including focal seizure and generalized tonic-clonic seizure, and developed epileptic status which caused secondary brain injury. The interictal EEG results showed hypsarrhythmia in three cases, generalized and multifocal discharges in one cases, and multifocal discharges in one case. No abnormalities were found in brain MRI in three cases, and secondary cerebral atrophy and hydrocephalus were observed in two cases during the course of the disease. Gene analysis confirmed that the five patients carried compound heterozygous variants of ALDH7A1, and two of them carried exon deletion variants. High dose pyridoxine treatment started at the end of 2 days, 4 years, 3 years, 4 days. and 2 months after the onset of the disease. Up to the last follow-up, seizures of four cases were controlled, followed by normal EEG. One patient with brain atrophy had uncontrolled seizures and EEG remained abnormal. The neurodevelopment of the three patients were severely delayed, and two were mildly delayed.
Conclusion: IESS could be a rare phenotype of PDE. High doses of pyridoxine can control or reduce the frequency of seizures. Delayed diagnosis and treatment, secondary brain injury, and the genotype, especially deletions variants, were associated with poor prognosis.
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