Introduction: 45,X/46,XY mosaicism is a rare disorder of sex development characterized by marked phenotypic variability, ranging from typical male or female genitalia to significant genital ambiguity. Data describing long-term clinical outcomes in affected patients remain limited. This study aimed to characterize the phenotypic spectrum and longitudinal outcomes of patients with 45,X/46,XY mosaicism, focusing on growth, associated comorbidities, and gonadal pathology. Methodology: We conducted a retrospective longitudinal study at a tertiary paediatric endocrine referral centre between January 2006 and January 2025. Patients with cytogenetically confirmed 45,X/46,XY mosaicism or related variants were included. Clinical presentation, karyotype, anthropometry, hormonal profiles, imaging findings, and gonadal histology were reviewed. External genital phenotype was quantified using the External Masculinization Score (EMS). Height was expressed as standard deviation scores (SDS) relative to population norms and compared with genetic potential. Results: Fourteen patients (10 males, 4 females) with 45,X/46,XY mosaicism were identified. Ambiguous genitalia was the predominant presenting feature, observed in 11 of 12 patients with available phenotype data. Growth impairment was common; median height SDS was −2.62 (range −3.26 to −2.00) in females and −0.46 (range 0.13 to −1.70) in males, both below expected genetic potential. Associated congenital anomalies were present in 25% of patients, including cardiac and renal abnormalities. Male patients demonstrated variable degrees of undervirilization with a median EMS of 4.5 (3.75–7.25). Müllerian duct remnants were identified in 66% of patients on imaging. Testicular microlithiasis was observed in two males. During follow-up, two patients underwent gender reassignment. Histological analysis of 14 gonads obtained via gonadectomy or biopsy revealed abnormal gonadal architecture in all cases. All intra-abdominal gonads demonstrated streak gonads or dysgenetic testicular tissue. Conclusion 45,X/46,XY mosaicism demonstrates a broad phenotypic spectrum with frequent genital ambiguity, growth impairment, and abnormal gonadal development. The high prevalence of gonadal dysgenesis underscores the importance of careful surveillance and individualized multidisciplinary management guided by clinical, endocrine, and histopathological findings.
Child ; Longitudinal Studies ; Mosaicism

OBJECTIVE: To investigate the effect of expansive open-door laminoplasty combined with single lateral mass screw fixation on the posterior longitudinal ligament ossification and cervical instability and its effect on sagittal balance. METHODS: A retrospective analysis of 65 patients with the posterior longitudinal ligament with cervical instability from May 2012 to July 2018 was conducted. The patients were divided into two groups according to the surgical method. Thirty-four patients were treated with open-door laminoplasty including 19 males and 15 females, aged 49 to 60 years old with an average age of (54.4±4.77) years old;symptoms lasted 8 to 39 months with an average of (21.0±8.2) months. Thirty-one patients were treated with single-door laminoplasty combined with single mass screw fixation including 17 males and 14 females, aged 50 to 59 years old with an average age of (55.4±3.2) years;symptoms lasted 7 to 48 months with an average of (23.7±13.1) months. General information of the two groups, including operation time, intraoperative blood loss, and postoperative complications was recorded. Sagittal vertical axis(SVA), C₀-C₂ and C₂-C₇ cobb angle were measured by X-ray before operation and at the last follow-up. Clinical efficacy was evaluated using the Japanese Orthopaedic Association(JOA) score. RESULTS: Surgery was successful in all patients. The operation time (109±15) min in the single-door laminoplasty combined with lateral mass screw fixation group was longer than that in the single-door group(128±16) min(P<0.05). There was no significant difference in intraoperative blood loss, postoperative axial symptoms and follow-up time between two groups(P>0.05). At the latest follow-up, both groups showed significant improvement in the motor and sensory components of the JOA score and the total JOA score compared to pre-surgery(P<0.05) and no significant change in bladder function score(P>0.05). There was no significant difference between two groups(P>0.05). At the latest follow-up, the C₀-C₂ Cobb angle increased in both groups compared to preoperative and more the single-door laminoplasty group(P<0.05). The angle of the C₂-C₇ Cobb angle decreased in both groups, and the reduction was greater in the single-door laminoplasty combined with lateral mass screw fixation group(P<0.05). There was a significant increase in C₂-C₇ SVA in the single-door laminoplasty group(P<0.05) and no significant change the single-door laminoplasty combined with lateral screw fixation group(P>0.05). CONCLUSION Posterior cervical laminoplasty with unilateral lateral mass screw fixation combined with single-door vertebral plate shaping surgery improves the neurological function and quality of life in patients with cervical spondylotic myelopathy complicated by ossification of the posterior longitudinal ligament and cervical instability. Compared with single-door vertebral plate shaping surgery, postoperative cervical lordosis and forward-tilt can be improved.
Humans ; Middle Aged ; Male ; Female ; Laminoplasty/methods* ; Ossification of Posterior Longitudinal Ligament/physiopathology* ; Bone Screws ; Cervical Vertebrae/physiopathology* ; Retrospective Studies ; Joint Instability/surgery*

PURPOSE: Ultrasonography has been used increasingly in orthopaedic practice credited to its low cost, easy accessibility, non-invasiveness, reproducibility, and safety from radiation. The purpose of this study was to test the validity and efficacy of ultrasonography as an adjunct in the assessment of fracture healing in long bones treated with intramedullary interlocking devices and its predictive value in determining the need for a secondary surgical procedure. METHODS: This was a descriptive longitudinal study of 40 skeletally mature patients from November 2016 to February 2019, who sustained long bone fractures of the tibia or femur treated using intramedullary interlocking nails. Patients with comminuted and segmental fracture patterns were excluded from the study. Each patient was evaluated at 6- and 12-week post-surgery using standard orthogonal radiographs and ultrasonography to assess fracture healing. Patients were then followed up until fracture union. Quantitative data was analyzed using frequency statistics and descriptive data with inferential statistics. RESULTS: Ultrasonography predicted 87.5% union and 12.5% delayed or non-union as early as 6 weeks after surgery, while radiographs predicted 22.5% union as late as 3 months of follow-up. The sensitivity and specificity of ultrasonography in assessing fracture healing were 100% and 97.2%, respectively, with a positive predictive value of 80.0%. Vascular resistance index was less than 0.5 in all patients who developed delayed or non-union. CONCLUSION Ultrasonography is able to predict fracture outcomes much earlier than standardized radiographs with comparable sensitivity and specificity. Vascular resistance index is an objective parameter in assessing callus quality and predicting fracture outcomes.
Humans ; Fracture Fixation, Intramedullary/methods* ; Male ; Female ; Ultrasonography/methods* ; Adult ; Fracture Healing ; Tibial Fractures/diagnostic imaging* ; Middle Aged ; Femoral Fractures/diagnostic imaging* ; Longitudinal Studies ; Bone Nails ; Young Adult ; Predictive Value of Tests ; Aged ; Treatment Outcome ; Adolescent

PURPOSE: To evaluate the diagnostic accuracy of the observational chart for traumatic limb swelling (OCTLS) for osteofascial compartment syndrome (OCS). METHODS: This was a descriptive-longitudinal study. Data of 316 patients who underwent surgical treatment for tibial fractures in our department from January 2015 to December 2023 were collected. Patients with Gustilo type II or higher open fractures, vascular injury, or bilateral fractures were excluded from the study. Two groups of double-blinded investigators independently assessed patients for the presence of OCS using 2 distinct diagnostic methods. Three senior orthopedic trauma surgeons evaluated patients with post-fracture calf swelling for OCS and the need for fasciotomy based on clinical signs and their extensive clinical experience. Subsequently, fasciotomy was performed according to their judgment, followed by postoperative examination of muscle and soft tissue conditions. Additionally, a follow-up evaluation was conducted to assess for complications such as ischemic muscle contracture. Another 3 trained researchers used OCTLS to grade swelling severity and determine the need for fasciotomy. The final diagnostic gold standard of OCS was determined by referring to whether there was escape of muscles at fasciotomy and/or color change in the muscles or muscle necrosis intraoperatively, and neurological abnormality or contracture at the last follow-up. The results of the 2 diagnostic methods were compared with the final diagnostic result. Kappa consistency test, paired χ² test (McNemar test), and receiver operating characteristic curve were used to evaluate the diagnostic efficacy of the 2 diagnostic methods. RESULTS: Of the 316 patients, 211 were finally included in the study, including 160 males and 51 females, with an average follow-up time of (14.5 ± 2.7) months. Among the 211 patients with tibial fracture-associated swelling, 42 were definitively diagnosed with OCS. Based on clinical symptoms and signs judgment, among the 65 fasciotomy patients, 38 were confirmed as correct, while among the 146 non-fasciotomy patients, 4 developed ischemic muscle contractures. Based on the OCTLS for assessment, fasciotomy was correctly recommended in 36 out of 43 cases, while 6 out of 168 non-fasciotomy patients developed OCS. Compared to the use of the gold standard, clinical signs judgment showed moderate consistency (McNemar's test p < 0.001, Kappa = 0.618, p < 0.001), whereas OCTLS demonstrated strong agreement (McNemar's test p = 1.000, Kappa = 0.808, p < 0.001). Receiver operating characteristic analysis revealed higher diagnostic accuracy for OCTLS (area under curve = 0.908, 95% CI: 0.843 - 0.972) compared to clinical signs judgment (area under curve = 0.872, 95% CI: 0.812 - 0.933). OCTLS achieved superior accuracy (93.8% vs. 85.3%, χ² = 8.221, p < 0.001) and a lower fasciotomy rate (20.4% vs. 30.8%, χ² = 6.023, p = 0.014). CONCLUSION Compared to clinical signs judgment, OCTLS significantly reduces unnecessary fasciotomy, improves diagnostic accuracy for OCS, and enables non-invasive, dynamic, and quantitative assessment, making it a valuable tool for clinical practice.
Humans ; Compartment Syndromes/etiology* ; Male ; Female ; Adult ; Tibial Fractures/surgery* ; Middle Aged ; Fasciotomy ; Edema/etiology* ; Longitudinal Studies ; Aged ; Young Adult

Extensive studies have identified potential adverse effects on semen quality of obesity, based on body mass index, but the association between body fat distribution, a more relevant indicator for obesity, and semen quality remains less clear. We conducted a longitudinal study of 4304 sperm donors from the Guangdong Provincial Human Sperm Bank (Guangzhou, China) during 2017-2021. A body composition analyzer was used to measure total and local body fat percentage for each participant. Generalized estimating equations were employed to assess the association between body fat percentage and sperm count, motility, and morphology. We estimated that each 10% increase in total body fat percentage (estimated change [95% confidence interval, 95% CI]) was significantly associated with a 0.18 × 10 6 (0.09 × 10 6 -0.27 × 10 6 ) ml and 12.21 × 10 6 (4.52 × 10 6 -19.91 × 10 6 ) reduction in semen volume and total sperm count, respectively. Categorical analyses and exposure-response curves showed that the association of body fat distribution with semen volume and total sperm count was stronger at higher body fat percentages. In addition, the association still held among normal weight and overweight participants. We observed similar associations for upper limb, trunk, and lower limb body fact distributions. In conclusion, we found that a higher body fat distribution was significantly associated with lower semen quality (especially semen volume) even in men with a normal weight. These findings provide useful clues in exploring body fat as a risk factor for semen quality decline and add to evidence for improving semen quality for those who are expected to conceive.
Humans ; Male ; Adult ; Semen Analysis ; China ; Body Fat Distribution ; Longitudinal Studies ; Sperm Count ; Sperm Motility ; Body Mass Index ; Tissue Donors ; Obesity/complications* ; Spermatozoa ; Young Adult ; Middle Aged ; East Asian People

This study was to survey the relationship between semen values and demographics, comorbidities, and recreational substance use in a large cohort of adult men at the University of Chicago Medical Center Department of Urology (Chicago, IL, USA). We performed an analysis from January 2013 to December 2023 of semen samples obtained from adult patients at our institution and collected their demographics, comorbid medical conditions, and recreational substance use information. Patients were divided into categories of normozoospermia, oligozoospermia, and azoospermia on the basis of the 5 th version of the World Health Organization (WHO) guidelines. Data were analyzed by univariate linear and logistic regression models, after which statistically significant variables were placed into multivariable models. Azoospermia and oligozoospermia were both associated with Caucasian or Black, Indigenous, and People of Color (BIPOC) race (both P < 0.001), increasing age ( P = 0.005 and P < 0.001, respectively), anemia ( P < 0.001 and P = 0.02, respectively), lifetime tobacco use (both P < 0.001), lifetime alcohol use ( P = 0.02 and P < 0.001, respectively), and lifetime use of at least two recreational substances ( P < 0.001 and P = 0.003, respectively) in multivariable models. Oligospermia was additionally associated with benign prostatic hyperplasia (BPH; P = 0.003) in multivariable models. This study suggests that at-risk populations may benefit from additional early screening and workup for infertility.
Humans ; Male ; Adult ; Longitudinal Studies ; Middle Aged ; Semen Analysis ; Life Style ; Oligospermia/epidemiology* ; Azoospermia/epidemiology* ; Comorbidity ; Midwestern United States/epidemiology* ; Young Adult

OBJECTIVE: Acupuncture has demonstrated efficacy as a treatment for fibromyalgia; however, predictors of short- and long-term analgesic response in this population are not well understood. METHODS: This manuscript describes a secondary analysis of a single-center, blinded, sham-controlled, randomized longitudinal acupuncture clinical trial in fibromyalgia. Baseline characterization included pressure pain threshold and pain interference, while residualized change in pain intensity from baseline to follow-up served as the primary outcome measure. Participants were randomized into groups that received verum (n = 36) or sham (n = 29) acupuncture treatment over a 12-week period (18 treatments) and were followed for 37 weeks from the initiation of treatment. RESULTS: Lower pressure pain thresholds at baseline were associated with greater analgesia only in the sham treatment group immediately following treatment, while those with higher pressure pain thresholds had greater analgesia with verum treatment (B = -13.43, P = 0.001). Additionally, greater perceived impact of pain at baseline was predictive of greater short-term analgesia irrespective of treatment. Pressure pain threshold was not found to be predictive of long-term differential treatment response (B = -1.71, P = 0.66). There was a significant difference in the relationship between perceived impact of pain at baseline and subsequent long-term analgesia between groups where those with greater perceived impact of pain displayed improved long-term analgesia for verum acupuncture compared to the sham group (B = -11.37, P = 0.004). CONCLUSION Our results support the use of a self-reported pain outcome in predicting long-term analgesia following acupuncture in fibromyalgia. Please cite this article as: Murphy AE, Arewasikporn A, Taylor-Swanson L, Williams DA, Harris RE. Pressure pain threshold and perceived impact of pain differentially predict short-term and long-term pain reduction following acupuncture in fibromyalgia. J Integr Med. 2025; 23(2): 152-158.
Adult ; Female ; Humans ; Male ; Middle Aged ; Acupuncture Therapy ; Fibromyalgia/therapy* ; Pain Management/methods* ; Pain Measurement/statistics & numerical data* ; Pain Threshold/physiology* ; Pressure ; Treatment Outcome ; Longitudinal Studies

OBJECTIVE: This study examines the sequential mediating roles of body pain and self-reported health in the association between sleep duration and self-reported life satisfaction among elderly Chinese adults. METHODS: Data from the fifth wave of the China Health and Retirement Longitudinal Survey (CHARLS) were used to analyse the relationships between sleep duration and body pain, self-reported health, and life satisfaction through logistic regression and Restricted Cubic Spline (RCS) analyses. The sequential mediation effects of body pain and self-reported health status were examined via chain mediation analysis. RESULTS: Logistic regression analysis showed that sleeping fewer than 6 hours or 6-7 hours was linked to higher risks of body pain, poor health, and dissatisfaction with life compared to sleeping 7-8 hours (all P < 0.05). Additionally, those sleeping more than 9 hours also had increased risks of poor health and dissatisfaction with life compared to those sleeping 7-8 hours (all P < 0.05). Chain mediation analysis showed that body pain and self-reported health status sequentially mediated 46.15% of the association between sleep duration and life satisfaction. CONCLUSION Body pain and self-reported health may shape the relationship between sleep duration and life satisfaction in elderly Chinese adults.
Humans ; Male ; Female ; Aged ; Personal Satisfaction ; Sleep ; Health Status ; Self Report ; China ; Middle Aged ; Longitudinal Studies ; Pain/psychology* ; Sleep Duration

OBJECTIVE: Burning solid cooking fuel contributes to household air pollution and is associated with frailty. However, how solid cooking fuel use contributes to the development of frailty has not been well illustrated. METHODS: This study recruited 8,947 participants aged ≥ 45 years from the China Health and Retirement Longitudinal Study, 2011-2018. Group-based trajectory modeling was employed to identify frailty trajectories. Multinomial logistic regression was used to assess the association between solid cooking fuel use and frailty trajectories. Population-attributable fractions were used to estimate the frailty burden from solid fuel use. RESULTS: We identified three frailty trajectories: low-stable ( n = 5,789), moderate-increasing ( n = 2,603), and fast-increasing ( n = 555). Solid fuel use was associated with higher odds of being in the moderate-increasing ( OR: 1.24, 95% CI: 1.08-1.42) and fast-increasing ( OR: 1.48, 95% CI: 1.14-1.92) trajectories. These associations were strengthened by longer solid fuel use ( P for trend < 0.001). Switching to clean fuel significantly reduced the risk of being in these trajectories compared with persistent solid fuel users. Without solid fuel, 8% of moderate- and 19% of fast-increasing trajectories demonstrated frailty development like the low-stable group. CONCLUSION Solid cooking fuel use is associated with frailty trajectories in middle-aged and older Chinese populations.
Humans ; China/epidemiology* ; Cooking ; Male ; Female ; Middle Aged ; Aged ; Air Pollution, Indoor/adverse effects* ; Frailty/etiology* ; Longitudinal Studies ; Cohort Studies

OBJECTIVE: This study aimed to explore the interplay between the life-course body mass index (BMI) trajectories and insulin resistance (IR) on incident diabetes. METHODS: This longitudinal cohort included 2,336 participants who had BMI repeatedly measured 3-8 times between 1989 and 2009, as well as glucose and insulin measured in 2009. BMI trajectories were identified using a latent class growth mixed model. The interplay between BMI trajectories and IR on diabetes was explored using the four-way effect decomposition method. Logistic regression and mediation models were used to estimate the interaction and mediation effects, respectively. RESULTS: Three distinct BMI trajectory groups were identified: low-stable ( n = 1,625), medium-increasing ( n = 613), and high-increasing ( n = 98). Both interaction and mediation effects of BMI trajectories and IR on incident diabetes were significant ( P < 0.05). The proportion of incident diabetes was higher in the IR-obesity than in the insulin-sensitivity (IS) obesity group (18.9% vs. 5.8%, P < 0.001). After adjusting for covariates, the odds ratios (95% confidence intervals) of the IR, IS-obesity, and IR-obesity groups vs. the normal group were 3.22 (2.05, 5.16), 2.05 (1.00, 3.97), and 7.98 (5.19, 12.62), respectively. IR mediated 10.7% of the total effect of BMI trajectories on incident diabetes ( P < 0.001). CONCLUSION We found strong interactions and weak mediation effects of IR on the relationship between life-course BMI trajectories and incident diabetes. IS-obesity is associated with a lower risk of incident diabetes than IR-obesity.
Humans ; Insulin Resistance ; Body Mass Index ; Male ; Female ; Middle Aged ; China/epidemiology* ; Adult ; Longitudinal Studies ; Incidence ; Diabetes Mellitus/epidemiology* ; Aged ; Obesity/epidemiology* ; Diabetes Mellitus, Type 2/epidemiology* ; East Asian People