BACKGROUND

Granulomatous mastitis (GM) of the breast has long posed a clinical dilemma in terms of diagnosis and management. GM can range from acute to chronic inflammations, which will have treatment implications. Inflammation of the breast may clinically mimic breast carcinomas and pyogenic abscesses. Thus, in the absence of known etiology, such as trauma or breastfeeding, GM may be difficult to diagnose. Currently, the incidence of GM is 2.4 per 100,000 women and 0.37% of the total population in the US. The rarity of GM contributes to it being a poorly understood disease. It has no definite clinical features and is often confused with a neoplasm or infection clinically and radiologically.

The study aimed to describe the clinical characteristics of GM seen in the Breast Care Clinic in the Philippine General Hospital (PGH) from January 2015 to June 2019. This study would initially provide institutional data on GM that is relevant in the Philippines.

This is a retrospective observational study of patients with GM seen in the Philippine General Hospital, a national tertiary referral hospital, from January 2015 to June 2019.

A total of 43 patients with pathological findings of GM from January 1, 2015 to June 15, 2019 were recorded. Among these 43 patients, 98% were female. The median age was 38.9 ± 11.3 years old. In 60.5% (26 out of 43) of patients, the initial impression was breast malignancy. The most common clinical presentation in 69.8% (30 out of 43) of the subjects was a breast mass. In more than 50% of the patients, breast ultrasonography was the initial imaging performed. The histopathologic profile of the patients showed inflammation, of which, the greatest were that of chronic granulomatous inflammation (46.5%, n-20). Treatment options performed were tended more medical (53.5%, n-23) than surgical (16.3%, n-7).Among those who received medical treatment, the therapeutics given were antitubercular medications (34.9%, n-15) and antibiotics (16.3%, n-7), while the others had a combination of antitubercular and antibiotic regimen medications (2.3%, n-1); unknown treatment (25.6%, n-11) and none (11.6%, n-5). For patient outcomes, no mortalities were recorded during the study period. However, most patients had inconsistent followups. Approximately 7%-23% of the patients who had followed up within the six months showed improvement or resolution of symptoms.

This study assessed the clinical profiles of patients with GM in a national tertiary referral hospital. Internationally, there is still no consensus on the algorithm and management of GM patients. However, the authors recommend a close follow-up every two weeks to re-evaluate patient response to the medical regimen being administered. The authors recommend a prospective study with a longer follow-up period to gain a deeper understanding of GM in Filipinos.

BACKGROUND

Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by inflammatory arthritis and extra-articular involvement. Comorbidities are highly prevalent in patients with RA, in particular cardiovascular disease (CVD), which is responsible for over 50% of premature deaths. This study aimed to describe cardiovascular diseases and their risk factors among patients with rheumatoid arthritis in the Philippine General Hospital (PGH).

To describe cardiovascular (CV) diseases and their risk factors among patients with rheumatoid arthritis.

A retrospective descriptive cross-sectional study was done in the University of the Philippines – Philippine General Hospital (UP-PGH) inpatient and outpatient services. The study included patients 18 years old and above diagnosed with RA and fulfills the 1987 American College of Rheumatology or 2010 American College of Rheumatology-European League Against Rheumatism (ACR/EULAR) classification criteria with no overlap features with other autoimmune connective tissue diseases and with complete records of the information required for the study from January 2019-December 2022. The primary outcomes of interest were the prevalence of CV diseases and CV risk factors. Descriptive statistics were used to summarize the data.

There were 123 patients in the study, 93.4% outpatients, and 95.1% females, with a mean age and disease duration of 51.3 and 9.8 years, respectively. Disease activity was moderate in 35% and high in 9.7%, based on disease activity score (DAS 28) or clinical disease activity index (CDAI) scores. Methotrexate (54%) was the most commonly used conventional synthetic disease-modifying antirheumatic drug (csDMARD). Glucocorticoid use was observed in 51.2%. None of the patients were receiving a biologic DMARD. There were 24 (19.5%) patients with CV diseases, namely myocardial infarction, heart failure, and stroke. There were 87 (70%) patients with at least one CV risk factor and 62 (50.4%) with multiple risk factors. The risk factors identified were: dyslipidemia (43.1%), hypertension (40.7%), elevated body mass index (35.7%), and diabetes mellitus (15.4%). There were f ive deaths in the hospitalized patients (4%), one due to a myocardial infarction.

The majority (70%) in our cohort had at least one CV risk factor, 19.5% had an identified CV disease, and one died from a myocardial infarction. Dyslipidemia was the most common CV risk factor. The high proportion of patients with CV disease and CV risk factors highlights the need to add the screening and management of CV diseases and risk factors as a priority among patients with rheumatoid arthritis.

Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.466G>T, in cilia- and flagella-associated protein 300 ( CFAP300 ) resulting in a stop codon (p.Glu156*) through whole-exome sequencing (WES). The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). Our results expand the spectrum of CFAP300 variants in PCD and provide reproductive guidance for infertile couples suffering from PCD caused by them.
Adult ; Female ; Humans ; Male ; Pregnancy ; China ; Ciliary Motility Disorders/genetics* ; Codon, Nonsense ; East Asian People/genetics* ; Exome Sequencing ; Homozygote ; Infertility, Male/genetics* ; Kartagener Syndrome/genetics* ; Pedigree ; Sperm Injections, Intracytoplasmic ; Cytoskeletal Proteins/genetics*

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

Isolated male epispadias typically presents with preputial defects and dorsal urethral dehiscence. A less common subtype, known as concealed epispadias, is distinguished by an intact prepuce. Despite its clinical relevance, there is limited literature on this variant. In this study, we retrospectively analyzed the clinical data of 86 pediatric patients with isolated male epispadias treated in Beijing Children's Hospital (Beijing, China) from May 2004 to July 2023, including 19 cases of concealed epispadias and 67 of nonconcealed epispadias. We compared clinical characteristics, preoperative diagnostics, surgical techniques, postoperative outcomes, and sexual function during follow-up between the concealed and nonconcealed groups. No significant differences were observed between the two groups regarding surgical methods, postoperative complications, or rates of urinary incontinence. However, notable distinctions were found in the age at initial diagnosis, timing of surgery, frequency of incontinence, location of the urethral meatus, and postoperative urinary incontinence scores (all P < 0.05). Given the absence of penopubic epispadias in concealed cases, we categorized glans and penile epispadias within nonconcealed epispadias as distal epispadias ( n = 40) and subsequently compared them with concealed epispadias cases. The postoperative urinary incontinence scores did not differ significantly between the concealed and distal epispadias groups. These findings suggest that concealed epispadias represents a relatively milder form of the condition, characterized by the absence of penopubic involvement, lower rates of urinary incontinence, and favorable surgical outcomes. However, the intact prepuce in concealed cases underscores the need for careful identification and early diagnosis.
Humans ; Male ; Retrospective Studies ; Epispadias/classification* ; China ; Tertiary Care Centers ; Child, Preschool ; Child ; Postoperative Complications/epidemiology* ; Urinary Incontinence/epidemiology* ; Urethra/surgery* ; Infant ; Penis/surgery* ; Adolescent ; Urologic Surgical Procedures, Male/methods* ; East Asian People

Individuals with congenital absence of the vas deferens (CAVD) may transmit cystic fibrosis (CF)-causing variants of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene to their offspring through assisted reproductive technology (ART). We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis. CFTR was sequenced in 145 Chinese individuals with CAVD. CFTR variants were classified as CF-causing or non-CF-causing variants regarding clinical significance. A comprehensive genotype analysis was performed in Chinese individuals with CAVD, incorporating previous studies and our study cohort. The prevalence of CF-causing variants was estimated through meta-analysis. In our cohort, 56 different CFTR variants were identified in 108 (74.5%) patients. Twenty variants were categorized as CF-causing and were detected in 28 (19.3%) patients. A comprehensive genotype analysis of 867 patients identified 174 different CFTR variants. Sixty-four were classified as CF-causing variants, 56.3% of which had not been previously reported in Chinese patients with CF. Meta-analysis showed that 14.8% (95% confidence interval [CI]: 11.0%-18.9%) CAVD cases harbored one CF-causing variant, and 68.6% (95% CI: 65.1%-72.0%) CAVD cases carried at least one CFTR variant. Our study underscores the urgent need for extensive CFTR screening, including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants, in Chinese individuals with CAVD before undergoing ART. The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.
Adult ; Humans ; Male ; China ; Cohort Studies ; Cystic Fibrosis/genetics* ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics* ; Genotype ; Male Urogenital Diseases/genetics* ; Mutation ; Vas Deferens/abnormalities* ; East Asian People/genetics*

Thalassemia is a group of hereditary disorders characterized by ineffective erythropoiesis due to hemoglobin synthesis abnormalities, resulting in varying degrees of chronic anemia. Patients with transfusion-dependent thalassemia rely on lifelong regular blood transfusions and iron chelation therapy. Proper transfusion treatment and management of transfusion-related complications are essential to ensure the growth and development of pediatric patients and to improve their quality of life. The guideline working group has developed the guideline by referencing domestic and international guidelines, expert consensus, and relevant studies. The aim is to further standardize the transfusion management of transfusion-dependent thalassemia in children in China.
Humans ; Thalassemia/therapy* ; Blood Transfusion/standards* ; Child ; East Asian People

Clinical management of Kawasaki disease faces several challenges, including difficulties in early diagnosis, insufficient personalized treatment, delayed access to information, and inefficient multidisciplinary collaboration. This paper explores the application of the DeepSeek AI model in the management of Kawasaki disease: (1) Enhancing early diagnosis accuracy through the integration and analysis of multimodal data (imaging, laboratory, and clinical data); (2) Dynamically adjusting treatment plans to achieve personalized medicine; (3) Integrating the latest global guidelines and research findings in real-time to optimize clinical processes; (4) Providing personalized health education content to enhance parental involvement; (5) Establishing a platform for sharing clinical data to support intelligent decision-making and multidisciplinary collaboration.
Humans ; Mucocutaneous Lymph Node Syndrome/diagnosis* ; Child ; Artificial Intelligence ; Precision Medicine ; East Asian People

OBJECTIVES: To investigate the disease burden of attention-deficit/hyperactivity disorder (ADHD) among children and adolescents in China and to predict future trends, in order to provide evidence for disease control strategies. METHODS: Based on data from the Global Burden of Disease Study 2021 (GBD 2021), joinpoint regression and prediction models were constructed to analyze and forecast the trends in ADHD burden indicators among Chinese children and adolescents from 1990 to 2021. RESULTS: In 2021, the incidence, prevalence, and disability-adjusted life years (DALYs) rates of ADHD among children and adolescents in China increased by 41.46%, 21.44%, and 21.75%, respectively, compared to 1990. From 1990 to 2021, the disease burden of ADHD showed an overall upward trend across sex and age groups, with a heavier burden among males. The highest incidence was observed in children aged 5-9 years, while the highest prevalence and DALY rates were found in those aged 10-14 years. By 2031, the incidence, prevalence, and DALY rates of ADHD among Chinese children and adolescents are projected to reach 324.88 per 100 000, 3 762.36 per 100 000, and 45.85 per 100 000, respectively. CONCLUSIONS From 1990 to 2021, the incidence, prevalence, and DALY rates of ADHD among children and adolescents in China have all increased, suggesting that more proactive prevention and intervention measures may be needed to alleviate the disease burden of ADHD in this population.
Humans ; Child ; Adolescent ; Attention Deficit Disorder with Hyperactivity/epidemiology* ; Male ; Female ; Child, Preschool ; China/epidemiology* ; Cost of Illness ; Prevalence ; Incidence ; Disability-Adjusted Life Years ; Forecasting ; East Asian People

OBJECTIVES: To explore the association between Chinese visceral adiposity index (CVAI) and the risk of nephrolithiasis. METHODS: This cross-sectional study analyzed data from 78 438 Chinese adults who underwent ultrasound examinations during health screening at the Health Examination Center of Affiliated Hospital of Yangzhou University. Participants were divided into quartiles (Q1-Q4 groups) based on CVAI. Multivariate logistic regression models were utilized to evaluate the association between CVAI and nephrolithiasis risk, followed by subgroup analyses to further explore potential relationships. The performance of CVAI in predicting the risk of nephrolithiasis was evaluated using receiver operating characteristic (ROC) curves. RESULTS: Increased CVAI was significantly associated with a higher risk of nephrolithiasis, with prevalence rising from 3.36% in the Q1 group to 10.67% in the Q4 group (P<0.01). In adjusted models, CVAI was positively correlated with the prevalence rate of nephrolithiasis (OR=1.002, 95%CI: 1.001-1.004, P<0.01). The risks of nephrolithiasis in the Q2, Q3, and Q4 groups were 1.196-fold (95%CI: 1.069-1.338, P<0.01), 1.260-fold (95%CI: 1.109-1.433, P<0.01), and 1.316-fold (95%CI: 1.125-1.539, P<0.01) higher than in the Q1 group, respectively. Subgroup analysis revealed that CVAI was positively associated with the risk of nephrolithiasis in male participants, individuals aged <60 years, the hypertension group, populations with or without diabetes mellitus, and the normal body mass index subgroup. Genders and age had an interaction effect on the correlation between CVAI and the risk of nephrolithiasis development (both P<0.05). The ROC curve analysis demonstrated that CVAI exhibited superior predictive efficacy compared to waist circumference, body mass index, visceral adiposity index, weight-adjusted waist index, cardiometabolic index and body shape index, with an area under the curve of 0.622. CONCLUSIONS In Chinese adults, CVAI is positively associated with the risk of nephrolithiasis development, which may serve as a potential predictive marker for nephrolithiasis.
Humans ; Nephrolithiasis/etiology* ; Male ; Female ; Middle Aged ; Cross-Sectional Studies ; Adult ; Intra-Abdominal Fat ; Risk Factors ; China/epidemiology* ; Adiposity ; Aged ; Logistic Models ; Obesity, Abdominal/epidemiology* ; East Asian People