To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

Objective To investigate the influence of a disintegrin and metalloproteinase 12(ADAM12),S100 calcium binding protein A8(S100A8),and serum tumor markers on chemotherapy outcomes and prognosis in patients with triple-negative breast cancer.Methods A totla of 300 patients with breast cancer admitted between January 2020 and January 2021 were included.Based on pathological immunohistochemistry findings,the patients were divided into a triple-negative group(n=98,triple-negative breast cancer)and a non-triple-negative group(n=202,non-triple-negative breast cancer).Serum tumor markers(carcinoembryonic antigen[CEA]and carbohydrate antigen 125[CA125]),the levels of ADAM12 and S100A8,and tissue protein expression levels of ADAM12 and S100A8 were compared between the two groups.The relationship between the protein levels of ADAM12 and S100A8 in the cancer tissues and the clinicopathological characteristics of the triple-negative group was analyzed.Differences in the protein levels of ADAM12 and S100A8 between patients with different chemotherapy outcomes(remission vs.non-remission)and different follow-up outcomes(survival vs.death)were analyzed.Kaplan-Meier survival analysis was used to examine the relationship between the protein levels of ADAM12 and S100A8 in cancer tissues and the prognosis.Results The protein expression levels of ADAM12 and S100A8 in cancer tissues from the triple-negative group were higher than those in the non-triple-negative group(P＜0.05).The protein expression levels of ADAM12 and S100A8 in cancer tissues were correlated with tumor diameter,histological grading,axillary lymph node metastasis,TNM staging,and differentiation degree in the triple-negative group(P＜0.05).The levels of CEA,CA125,ADAM12,and S100A8,as well as the protein expression levels of ADAM12 and S100A8 in cancer tissues in the non-remission group,were higher than those in the remission group(P＜0.05).Similarly,these markers were also significantly elevated in the death group compared to those in the survival group(P＜0.05).After 3 years of follow-up,the overall survival(OS)of patients with low ADAM12 expression was 36.0(8.0,36.0)months,while that of patients with high ADAM12 expression was 32.5(4.0,36.0)months,showing a statistically significant difference(log rank x2=12.913,P＜0.001).The OS of patients with low S100A8 expression was 36.0(7.0,36.0)months,while that of the high-expression group was 31.0(4.9,36.0)months,also showing a statistically significant difference(log rank x2=24.151,P＜0.001).Conclusion ADAM12 and S100A8 protein expression levels in triple-negative breast cancer tissues are higher than those in non-triple-negative breast cancer tissues.Serum tumor markers and ADAM12 and S100A8 protein expression levels(in both serum and tumor tissues)affect the chemotherapy outcomes and prognosis of triple-negative breast cancer patients,among which the expression levels of ADAM12 and S100A8 proteins in tumor tissues can serve as predictors of patient prognosis.

The clinical data of a patient with differentiated thyroid carcinoma(DTC)who developed physiological thymic uptake after postoperative iodine-131(131I)therapy were analyzed,and the 3-year follow-up changes in the patient's condition were reviewed.Combined with the literatures and the diagnosis and treatment process,the causes of possible false positives in whole-body scans after iodine therapy for DTC and the mechanism,clinical features,and identification methods of benign thymic 131I uptake were discussed to improve clinicians' understanding and diagnostic ability regarding such conditions and avoid unnecessary multiple iodine treatments.The patient,a 28-year-old female,showed mediastinal imaging after the first 131I treatment,with more pronounced mediastinal iodine uptake during the second treatment.SPECT/CT localized the uptake to enlarged thymus tissue.The stimulated thyroglobulin(Tg)levels before two 131I treatments were high but gradually decreased.Apart from thymic uptake,no other examination evidence suggested DTC metastases.Subsequent follow-up for 3 years showed no pathological changes in the thymus,confirming physiological thymic uptake.Thymic 131I uptake is a common cause of false-positive whole-body scans in post-thyroidectomy patients.When post-131I therapy whole-body imaging shows only mediastinal uptake,especially in the young patients undergoing multiple 131I treatments where thymic 131I uptake intensity increases with successive treatments,even with elevated Tg levels,comprehensive use of imaging results such as SPECT/CT is essential to determine if it is normal thymus,thereby avoiding unnecessary repeated therapies.

Objective Observe the tongue and pulse characteristics of PCOS patients with phlegm-damp syndrome,explore a model for identifying PCOS patients with phlegm-damp syndrome,and provide certain objective tongue and pulse diagnostic indicators with TCM characteristics for clinical treatment.Methods A total of 172 medics were recruited from the Affiliated Shuguang Hospital of Shanghai University of Traditional Chinese Medicine,the Shanghai Hospital of Traditional Chinese Medicine,and Shanghai University of Traditional Chinese Medicine.Including PCOS group(including 68 cases with phlegm-damp syndrome and 38 cases without phlegm-damp syndrome),postmenstrual period group(35 with phlegm-damp syndrome),and normal control group with phlegm-damp syndrome(31).The Smart TCM-Ⅰ type of TCM physiological information analysis system was used to collect tongue image information(including parameters of tongue color and tongue coating)and pulse image information(including amplitude and time domain parameters of pulse wave).Results Comparison of tongue parameters showed that compared to the menstrual late phase group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome showed significantly higher levels of TC H,TC TIP G,TC TIP B,and TC TIP H,but lower TC TIP S;Compared to the control group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome exhibited significantly lower levels of TC ROOT R,TC ROOT V,CC R,CC G,CC B,CC V,CC MID R and CC MID V;Compared to the control group with phlegm-damp syndrome,the menstrual late phase group with phlegm-damps syndrome showed significantly lower levels of TC H,TC R,TC B,TC G,TC V,TC MID H,TC TIP G,TC TIP B,CC R,CC H,CC V,and CC MID H,but higher TC TIP S.The above differences were all significant(P<0.05).Comparison of pulse wave parameters showed that compared with the normal group,the PCOS group showed increased values in H4/H1 L、T4/T L、W1/T L、H2/H1 R、H4/H1 R、W1/T R、H2/H1 L,and T1/T L,while T5/T4 L was decreased;In the menstrual late-phase group,H4/H1 L、H5/H1 L、W1/T L、W1/T R、H2/H1 L、T1/T L、T4/T L、T1/T4 L、H2/H1 R,and H4/H1 R were higher,whereas T5/T4 L were lower.The above differences were all statistically significant(P<0.05).The nomogram diagnostic model for phlegm-damp syndrome of PCOS was established by combining tongue and pulse diagnosis parameters.And the model had a certain reliability.Conclusion The certain objective parameters of tongue and pulse diagnosis can help predict to a certain extent the phlegm-damp syndrome of PCOS,postmenstrual period,and normal control group with phlegm-damp syndrome and non-phlegm-dampness syndrome of PCOS.

The diagnosis of obscure gastrointestinal bleeding in children faces many challenges,including the complexity of etiology and the limitations of diagnostic techniques. This article explored current diagnostic strategies,highlighted the importance of multidisciplinary collaboration,and assessed the potential of emerging technologies such as capsule endoscopy and double balloon enteroscopy.While these technologies offer new diagnostics,cost and operational complexity remain barriers to adoption. Future research directions should include improving access to technology and developing integrated diagnostic pathways to optimize the management of obscure gastrointestinal bleeding in children.

Objective:To describe the clinical and pathological features of patients with myofasciitis.Methods:The clinical manifestations and auxiliary examination (laboratory, electromyogram, imaging and muscle biopsy) results of 52 patients with myofasciitis diagnosed by pathology at Peking University First Hospital from August 2002 to December 2024 were collected and analyzed.Results:Among the 52 patients (33 males and 19 females), the age of disease onset was (34.4±16.4) years (6.0-73.0 years) and the disease duration was 17.7 (0.3, 120.0) months; the main symptoms included myalgia in the distal limbs (28 cases, 53.8%), diffuse cutaneous or muscle sclerosis (21 cases, 40.4%), muscle weakness (22 cases, 42.3%) and limited joint activity (23 cases, 44.2%); 12 patients (23.1%) were combined with other diseases. All patients had no history of vaccination. Laboratory examinations showed that 80.8% (21/26) of patients had elevated C-reactive protein, 80.0% (20/25) had elevated erythrocyte sedimentation rate, and 26.5% (9/34) had elevated creatine kinase. Among 19 patients undergoing electromyography, 6 cases showed myogenic changes, 4 cases showed neurogenic changes, 1 case showed both myogenic and neurogenic changes, and 8 cases showed no obvious abnormality. Myofascial edema was observed in all 15 patients who underwent muscle magnetic resonance imaging, with partial involvement of adjacent muscles in some cases. According to myopathological changes, the 52 patients were divided into macrophagic myofasciitis in 41 cases (78.8%), lymphocytic myofasciitis in 7 cases (13.5%), and eosinophilic fasciitis in 4 cases (7.7%). Among the 52 patients, fibroblast proliferation in the myofascia was present in 39 cases (75.0%), subfascial muscle fiber atrophy in 28 cases (53.8%), and scattered muscle fiber necrosis and regeneration in 15 cases (28.8%). Major histocompatibility complex class Ⅰexpression on muscle fibers was positive in 89.5% (34/38) of patients, and membrane attack complex deposition on muscle fibers and/or capillary walls was present in 39.5% (15/38) of patients. Among 25 patients with follow-up, all received low-dose oral glucocorticoids, and 7 additionally received methotrexate, intravenous immunoglobulin, or hydroxychloroquine. During follow-up, 22 patients showed clinical improvement, 1 patient remained stable, and 2 patients died.Conclusions:Non-vaccine-associated macrophagic myofasciitis is the most common pathological subtype of myofasciitis. A few patients are concomitant with other diseases. Muscle magnetic resonance imaging is helpful in the diagnosis of the disease. Most patients respond to immunosuppressive treatment.

Objective:To report the clinical, imaging, and pathological features of a case of MYH7 gene-related scapuloperoneal myosin storage myopathy. Methods:Clinical data were collected from a patient with MYH7 gene-related scapuloperoneal myosin storage myopathy who presented to Peking University First Hospital in February 2025. The patient was evaluated with muscle magnetic resonance imaging, muscle biopsy, and whole-exome sequencing. Results:The patient was a 52-year-old female, with a 12-year history of progressive difficulty in foot dorsiflexion, exercise-induced fatigue, and lower limb pain. Over the past 3 years, she developed proximal upper limb weakness and post-exertional myalgia. Physical examination revealed scapuloperoneal weakness distribution accompanied by sensorineural hearing loss. Electromyography demonstrated myogenic changes in the deltoid and tibialis anterior muscles. Serum creatine kinase levels were within normal limits. Lower limb magnetic resonance imaging showed mild atrophy of the thigh muscles and significant fatty infiltration in the tibialis anterior, extensor hallucis longus, and extensor digitorum longus. Tibialis anterior muscle biopsy revealed dystrophic-like changes with sub-sarcolemmal hyaline bodies containing abundant granulofilamentous material. Whole exome sequencing identified a heterozygous pathogenic variant of c.5352_5354del(p.K1784del) in the MYH7 gene. Conclusions:This patient is the first reported one in China with MYH7 gene-related scapuloperoneal myosin storage myopathy, exhibiting characteristic scapuloperoneal weakness, selective fatty infiltration of the anterior lower leg muscles on imaging and sub-sarcolemmal hyaline body pathological changes. The diagnosis of this disease relies on characteristic pathological findings and genetic test results.

Objective To evaluate the clinical efficacy and safety of Huoxue Jiedu Prescription in the treatment of polycythemia vera with heat toxicity and blood stasis syndrome.Methods Totally 155 patients of polycythemia vera with heat toxicity and blood stasis syndrome from 5 hospitals including Langfang Traditional Chinese Medicine Hospital from October 2022 to March 2024 were collected.Patients were divided into an observation group(79 cases)and control group(76 cases)using a random number table method.Both groups received conventional Western medicine treatment.The observation group was given Huoxue Jiedu Prescription,one dosage per day,taken orally twice a day;both groups received one treatment course of one month,and three treatment courses were observed.The efficacy of Western medicine and TCM syndromes was observed,and the total symptom assessment scale of myeloproliferative neoplasms(MPN-10)scores,hematological indicators,coagulation function before and after treatment were compared.The safety indicators of the two groups were monitored.Results The control group and observation group lost 2 and 4 cases,respectively.The total effective rate of Western medicine in the observation group was 90.67%(68/75),while the control group was 67.57%(50/74),with statistical significance(P<0.01).The total effective rate of TCM syndromes in the observation group was 94.67%(71/75),while in the control group was 71.62%(53/74),with statistical significance(P<0.01).Compared with before treatment,the total score of MPN-10 in both groups significantly decreased(P<0.05);after treatment,the total score of MPN-10 in the observation group was lower than that in the control group(P<0.05).Compared with before treatment,both groups showed significant reductions in hemoglobin,white blood cell count,hematocrit and platelet count after treatment(P<0.05);after treatment,the above hematological indicators in the observation group were better than those in the control group(P<0.05).Compared with before treatment,the levels of D-dimer and fibrinogen in both groups significantly decreased after treatment,and the activated partial thromboplastin time and prothrombin time were significantly shortened(P<0.05);after treatment,the observation group showed better improvement in the coagulation function indicators compared to the control group(P<0.05).There were no significant adverse reactions in the two groups.Conclusion Huoxue Jiedu Prescription can improve clinical efficacy of polycythemia vera with heat toxicity and blood stasis syndrome,improve hematological indexes,reduce coagulation indexes,and has good safety.

Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.