Idiopathic Group Research Articles

Clinical factors and predictors for spontaneous separation of epiretinal membranes.

To investigate the clinical characteristics, imaging features, and predictive factors for spontaneous separation in patients with idiopathic or secondary ERM. The overall cohort was divided into two subgroups: idiopathic ERM (28 eyes, 56%) and secondary ERM (22 eyes, 44%). Electronic records and multimodal imaging were reviewed. Among the 50 eyes included in this study, the self-separation of ERM occurred over a mean duration of 28.1 ± 25.3months (median: 25.4months). Compared with the secondary ERM group, the idiopathic group had a shorter interval to separation (idiopathic vs. secondary, 23.4 vs. 34.1months, respectively; P = .01) and better vision at diagnosis (logMAR 0.094 vs. 0.224; P = .009) and after separation (logMAR 0.097 vs. 0.188; P = .01). Overall, in both subgroups, spontaneous ERM separation appeared to have been induced by posterior vitreous detachment (PVD) (P < .001). Multivariate analysis revealed that the self-separation interval (odds ratio [OR] 0.936) and IRF (OR 0.049) were significantly associated with complete ERM separation (all P < .05). Additionally, secondary ERM (OR 15.224) and lower initial best-corrected visual acuity (OR 267.589) were significantly associated with improvements in vision after self-separation (all P < .05). The self-separation of ERM appears to be induced by PVD development in most eyes. Owing to the possibility of complete spontaneous separation, surgical membrane peeling may be delayed by up to 28months in eyes without PVD, regardless of whether the cause is idiopathic or secondary. Patients with secondary ERM may experience favorable visual improvement after self-separation despite having poor vision at diagnosis and IRF on OCT. What is known • An epiretinal membrane (ERM), the most prevalent retinal disease in adults, is less understood regarding clinical factors and the accurate mechanism of spontaneous separation. What is new • The separation of ERM appears to be induced by PVD development in most eyes. • Favorable vision outcomes were associated with secondary ERMs and lower initial visual acuity. • Complete ERM separation was associated with a shorter self-resolution interval and the absence of intraretinal fluid (IRF) in OCT imaging.

Clinical manifestations and quality of life in patients with different types of idiopathic megabowel

AIM: to compare the clinical and diagnostic features and quality of life in patients with different types of idiopathic megabowel. PATIENTS AND METHODS: 157 patients with idiopathic megacolon/megarectum, confirmed by barium enema, were divided on 3 groups: 1) distal idiopathic megabowel (megarectum ± distal third of sigmoid colon dilatation); 2) idiopathic megacolon (variable extent of colon dilatation with a normal size rectum); 3) idiopathic megabowel (megarectum ± variable extent of colon dilatation). Hirschsprung’s disease was excluded in all patients based on complex of clinical features, barium enema and anorectal manometry results and (if needed) rectal Swenson’s biopsy. RESULTS: the cohort included 70 (44.6 %) patients with distal idiopathic megabowel, 50 (31.8 %) patients with idiopathic megacolon and 37 (23.6 %) patients with idiopathic megabowel. Wexner constipation scale rate, rate of integral parameters “abdominal discomfort” and “defecation difficulties”, summary assessment of quality of life by IBSQOL questionnaire did not differ between groups (p &gt; 0.05). At the same time patients with distal idiopathic megabowel were statistically significant younger (p &lt; 0.01), had significant higher rate of faecal incontinence due to faecal impaction overflow (p &lt; 0.01), had less often bowel movement. Also these patients had significant higher rate of distal contrast retention (p &lt; 0.01) during gut transit test, but their colonic transit time was slight faster (p = 0.04).In multivariate analysis both megarectum (OR = 25.42; 95 % CI 5.01–128.92) and insufficiency of anal sphincter (OR = 4.71; 95 % CI 1.38–16.14) were independent predictors of faecal incontinence. The surgical treatment was performed most often in idiopathic megacolon group (p &lt; 0.01), mainly due to colon volvulus. The most patients with distal idiopathic megabowel (97.1 %) were successfully maintained with a conservative treatment. CONCLUSION: there was not substantial difference in clinical features and quality of life in patients with different types of idiopathic megabowel, except of significant higher rate of faecal incontinence and less often bowel movement in distal idiopathic megabowel group. Faecal incontinence in these patients is linked disturbance rather intestinal, than anal component of continence. The necessity in surgical treatment was rising most often in cases of idiopathic megacolon. The conservative treatment was quite effective in most patients with distal idiopathic megabowel.

Acute Renal Infarction: A 12-Year Retrospective Analysis

Introduction: Acute renal infarction (ARI) is a relatively rare and underdiagnosed condition. Presenting symptoms are nonspecific, and imaging is the mainstay for diagnosis. This study attempts to characterize the profile of patients with ARI and identify possible risk factors. Methods: All inpatients admitted with diagnosis of ARI between 2010 and 2022 were included in this single-center retrospective observational study. Patients with chronic renal infarction, iatrogenic causes, and without radiographic evidence of ARI were excluded. Clinical, laboratory, and radiological findings of patients were collected. Patients were grouped into three groups based on probable etiology: cardiovascular, hypercoagulable disorders, and idiopathic, and analyzed. Results: Eighty-five patients were included. Mean age of patients was 61.6 ± 17.54 years. Cardiovascular group had the highest number of patients (49.4%) of which atrial fibrillation was the most common etiology (59.5%). Malignancy was the most common etiology in the hypercoagulable disorder group (69.3%). Patients in the idiopathic group were significantly younger and had higher mean body mass index than the other 2 groups at presentation. Smokers had 9 times higher risk of renal infarction in cardiovascular group and 1.7 times higher risk in hypercoagulable when compared to the idiopathic group. 48.2% of patients developed renal infarction though they were on antiplatelets/anticoagulants. Conclusion: ARI is a rare and often underdiagnosed condition that can have residual renal dysfunction. It is important to consider ARI as a differential especially in young patients with risk factors even if they are on anticoagulation medication.

Comparison of surgical outcomes of macular telangiectasia type 2 associated macular hole with idiopathic macular hole: A tertiary center review.

To assess the longitudinal surgical outcomes of macular telangiectasia type 2 macular hole (MacTel-MH) and compare them with those of idiopathic MH. This retrospective, single-tertiary center study included patients who underwent MH surgery between January 2015 and September 2023. Patients with characteristic optical coherence tomography (OCT) findings of MacTel in both eyes or those who underwent fluorescence angiography were classified as having MacTel MH. Baseline and postoperative best-corrected visual acuity and OCT parameters were reviewed. Totally, 27 and 243 eyes with MacTel and idiopathic MH, respectively, were included. MH closure rate was better achieved in idiopathic than in MacTel MH group at 2 years postoperatively. Temporal recovery of ellipsoid zone and external limiting membrane was more prominent in MacTel than in idiopathic MH group. Statistically significant visual acuity improvement was seen between 3 months and 2 years postoperatively in MacTel MH group. To the best of our knowledge, this is the first study to analyze the surgical outcomes of MacTel MH in both anatomical and functional aspects and compare them with patients with idiopathic MH. Postoperative microglia change would have affected the restoration of outer retinal layer of patients; however, further studies are needed for clarification.

Evaluation of the Results of Intracytoplasmic Sperm Injection and Microdissection Testicular Sperm Extraction Treatments in Patients with Nonobstructive Azoospermia According to Etiological Factors: A Retrospective Analysis

Objective: This study aimed to retrospectively compare the results of microdissection testicular sperm extraction (microTESE) and Intracytoplasmic sperm injection (ICSI) treatments in nonobstructive azoospermia (NOA) patients with different aetiologies. Determinants (clinical characteristics) for microTESE outcomes were compared between patients with successful sperm retrieval (SSR) and sperm retrieval failure (SRF). Methods: A total of 510 NOA patients who underwent microTESE between January 2015 and January 2024 were included in this study. Patients were classified according to the cause of NOA and SSR, fertilisation rate, clinical pregnancy, and overall live birth rate were evaluated. Results: The SSR rate was 44.1% in the whole population. The idiopathic patient group had the lowest SSR rate (X2: 34.81; p&lt;0.01). There was no difference between the groups in terms of fertilisation rate, clinical pregnancy and overall live birth rate. There was a negative correlation between age and SSR rates in patients with idiopathic NOA (t:-0.27; p&lt;0.01). SSR rates were higher in patients with cryptorchidism (right: t:0.8; P:0.003; left: t:0.72; p:0.002) and mumps orchitis (right: t:0.76; P&lt;0.01; left: t:0.76; p=0.003). Conclusion: Etiology has a significant role in terms of SSR in patients with NOA. SSR was found to be significantly less in patients with idiopathic NOA compared to other causes. In addition, age and testicular volume were significant predictive factors for SSR in patients with idiopathic and acquired NOA.

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson's disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 × 10-34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 × 10-35). Female patients were 22% more likely to have a positive PDGT (P = 3 × 10-4), and for individuals with FH+ this likelihood was 55% higher (P = 1 × 10-14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD.

Bone mineral density: Comparison between women under hormone replacement therapy with Turner syndrome or idiopathic premature ovarian insufficiency

ContextTurner syndrome (TS) is characterized by short stature and premature ovarian insufficiency (POI). The main long-term complication of POI is osteoporosis, which can be prevented by hormone replacement therapy (HRT). ObjectiveThe objective of our study was to compare initial bone mineral density (BMD) and progression between TS and idiopathic POI patients under HRT. MethodsA single-center retrospective study was conducted between 1998 and 2018. All women had undergone at least two bone densitometry assessments at least 2 years apart. ResultsSixty-eight TS patients and 67 idiopathic POI patients were included. Mean age at initial assessment was 27 years (IQR, 21–35.5 years) in TS patients and 31.5 years (IQR, 23–37 years) in idiopathic POI patients (P=0.1). Lumbar and femoral neck BMD were lower in the TS group than in the idiopathic POI group (respectively 0.89g/cm2 versus 0.95g/cm2, P=0.03; 0.70g/cm2 versus 0.77g/cm2, P<0.0001). Mosaic karyotype was associated with better BMD in TS patients while history of growth hormone treatment had no impact on BMD. Over time, a significant gain in vertebral BMD was observed in TS patients versus a loss of BMD in idiopathic POI patients (P=0.0009). ConclusionTS patients had a lower BMD at baseline than idiopathic POI patients, at both spinal and femoral levels. Over time, on HRT, a significant gain in vertebral BMD was observed in patients with TS, compared with a loss of BMD in patients with idiopathic POI. We hypothesized that earlier initiation and longer duration of HRT played an important role in this finding. Long-term prospective follow-up to assess the incidence of fractures in TS would be useful.

Effects of Intra-Articular Triamcinolone Injection on Adhesive Capsulitis after Breast Cancer Surgery.

To investigate the effects of intra-articular glenohumeral joint triamcinolone injection in treating secondary adhesive capsulitis after breast cancer surgery. This study prospectively enrolled 37 participants, including 22 in the breast cancer surgery group and 15 in the idiopathic group. All participants received intra-articular glenohumeral joint triamcinolone injection in the affected shoulder joint. The clinical outcomes included the Shoulder Pain and Disability Index (SPADI), passive range of motion (PROM), and pain intensity on the Numeric Rating Scale (NRS), which were evaluated before the intervention and 1, 3, and 6 months after. The primary outcome of this study was the mean difference in the total SPADI from baseline to 6 months after the intervention. The mean differences in the total SPADI scores from baseline to 6 months after the intervention were 36.2 ± 16.4 and 47.9 ± 15.2 in the breast cancer surgery group and the idiopathic group, respectively. There was no significant difference between the two groups (p = 0.1495). However, the improvements in the SPADI pain subscale at the 3- and 6-month follow-up visits (-31.2 vs. -48.8, p = 0.042; -34.1 vs. -50.7, p = 0.0006) and the PROM of abduction at the 3-month follow-up (52.4 vs. 70.3, p = 0.0072) were inferior in the breast cancer surgery group compared to the idiopathic group. There were no adverse events in either group. Intra-articular triamcinolone injection is an effective and safe treatment option for adhesive capsulitis after breast cancer surgery; however, it has less effect than for idiopathic adhesive capsulitis.

Prognostic value of coexisting conditions and complications in pleuroparenchymal fibroelastosis: a single-center retrospective study.

Pleuroparenchymal fibroelastosis (PPFE) is a rare idiopathic interstitial lung disease (ILD) characterized by subpleural parenchymal fibrosis and elastosis mainly in the upper lobes. PPFE occurs in a secondary form that overlaps with underlying medical conditions or complications. This study evaluated the clinical impact of coexisting factors on the survival of patients with PPFE. Fifty-five PPFE patients were retrospectively evaluated. The patients' diagnoses were categorized as "idiopathic PPFE" with no known cause or "secondary PPFE" with underlying medical conditions or complications. The clinical characteristics and survival rates of these groups were compared. Twenty-eight patients (50.9%) were diagnosed with idiopathic PPFE and 27 (49.1%) with secondary PPFE, including cases of occupational dust exposure, connective tissue disease (CTD), post-hematopoietic stem cell transplantation (HSCT), and a family history of ILD. The idiopathic and secondary PPFE groups had similar clinical features, laboratory tests, and pulmonary function profiles, including a low body mass index, normal Krebs von den Lungen-6, high surfactant protein-D, and high residual volume/total lung capacity. In the secondary PPFE group, post-HSCT was associated with a worse prognosis, and CTD was associated with better prognosis. A multivariate analysis demonstrated that post-HSCT and a reduced forced vital capacity were significantly associated with a worsened survival in patients with PPFE. The prognosis of PPFE is highly influenced by underlying medical conditions or complications. Patients with post-HSCT PPFE should be monitored particularly closely, as they are at higher risk of a poor prognosis than others.

Genome-Wide Association Study with Three Control Cohorts of Japanese Patients with Esotropia and Exotropia of Comitant Strabismus and Idiopathic Superior Oblique Muscle Palsy.

Esotropia and exotropia in the entity of comitant strabismus are multifactorial diseases with both genetic and environmental backgrounds. Idiopathic superior oblique muscle palsy, as the predominant entity of non-comitant (paralytic) strabismus, also has a genetic background, as evidenced by varying degrees of muscle hypoplasia. A genome-wide association study (GWAS) was conducted of 711 Japanese patients with esotropia (n= 253), exotropia (n = 356), and idiopathic superior oblique muscle palsy (n = 102). The genotypes of single nucleotide polymorphisms (SNPs) were determined by Infinium Asian Screening Array. Three control cohorts from the Japanese population were used: two cohorts from BioBank Japan (BBJ) and the Nagahama Cohort. BBJ (180K) was genotyped by a different array, Illumina Infinium OmniExpressExome or HumanOmniExpress, while BBJ (ASA) and the Nagahama Cohort were genotyped by the same Asian array. After quality control of SNPs and individuals, common SNPs between the case cohort and the control cohort were chosen in the condition of genotyping by different arrays, while all SNPs genotyped by the same array were used for SNP imputation. The SNPs imputed with R-square values ≥ 0.3 were used to compare the case cohort of each entity or the combined entity with the control cohort. In comparison with BBJ (180K), the esotropia group and the exotropia group showed CDCA7 and HLA-F, respectively, as candidate genes at a significant level of p < 5 × 10-8, while the idiopathic superior oblique muscle palsy group showed DAB1 as a candidate gene which is involved in neuronal migration. DAB1 was also detected as a candidate in comparison with BBJ (ASA) and the Nagahama Cohort at a weak level of significance of p < 1 × 10-6. In comparison with BBJ (180K), RARB (retinoic acid receptor-β) was detected as a candidate at a significant level of p < 5 × 10-8 in the combined group of esotropia, exotropia, and idiopathic superior oblique muscle palsy. In conclusion, a series of GWASs with three different control cohorts would be an effective method with which to search for candidate genes for multifactorial diseases such as strabismus.

The Role of Glutathione Administration in the Treatment of Infertility Men

Lipid peroxidation negatively affects sperm function by decreasing the number of motile sperm in the reproductive tract, which is caused by a disruption in the balance of sex hormones that regulate male fertility. A total of 80 adult men, aged 36-55 years, participated in this study. The group comprised 40 fertile control men and 40 men with idiopathic infertility who received antioxidant treatment. Among them, 15 men were younger than 36 years and 65 men were older than 36 years. All the infertile men had been married for at least five years and had no children. The study samples were collected from an infertility clinic at Kirkuk Teaching Hospital and private clinics. Each patient received glutathione supplementation once a day for five months, starting oral antioxidant therapy in July and continuing until December 2023, along with garlic taken twice daily with food. Initially, there were slight but significant differences observed in FSH and LH levels between the control group and infertility patients before treatment, while testosterone levels were significantly lower in the infertility group. However, after five months of treatment, there was a significant increase in FSH, LH, and testosterone levels in the idiopathic infertility group compared to the control group. The research indicated a significant increase in seminal plasma glutathione (GSH) and glutathione peroxidase (GPx) and a significant reduction in seminal plasma malondialdehyde (MDA). These changes led to a significant increase in the sperm count of idiopathic infertility men after five months of treatment compared to the control group. Furthermore, FSH levels significantly increased after two months of treatment, with a corresponding increase in serum GSH. Thus, the administration of glutathione with garlic significantly reduced serum MDA and significantly increased serum FSH, total testosterone, and the count of motile sperm in idiopathic infertility men. Key Words: L-Glutathione250MG , Garlic ,idiopathic infertility men ,sperm count ,total testosterone

Destroyed lung contributes to the recurrence of hemoptysis after bronchial artery embolization in patients with post-tuberculosis bronchiectasis

BackgroundBronchiectasis has high rates of hemoptysis and recurrent hemoptysis, which is inconsistent among various etiologies. Idiopathic bronchiectasis and post-tuberculous bronchiectasis are two important etiologies in China, but the differences in clinical features and risk factors of recurrent hemoptysis have not been elucidated. MethodsPatients hospitalized for idiopathic bronchiectasis or post-tuberculosis bronchiectasis were included. Patients were followed up for at least 24 months post-BAE. Demographic characteristics and clinical data were collected and analyzed between idiopathic bronchiectasis and post-tuberculosis bronchiectasis. Based on the outcomes of recurrent severe hemoptysis in patients with post-tuberculosis bronchiectasis, Cox regression models were used to identify risk factors for recurrence. ResultsAmong 417 patients including 352 idiopathic bronchiectasis and 65 post-tuberculous bronchiectasis, 209 (50.1%) were females. Compared with the idiopathic group, the proportion of patients with female (54.5% vs. 26.2%, p < 0.001), with sputum (79.5% vs. 36.9%, p < 0.001), isolation of Pseudomonas aeruginosa (28.7% vs. 7.7%, p < 0.001), and the number of bronchiectatic lobes≥ 3(98.3% vs 50.8%, p < 0.001) were lower, and the proportion of destroyed lung (4.5% vs. 26.6%, p < 0.001) and recurrence of severe hemoptysis (22.4% vs. 41.5%, p = 0.001) were higher in the post-tuberculous group. Among patients with post-tuberculosis bronchiectasis, destroyed lung [HR: 3.2(1.1,9.1), p = 0.026] and abnormal esophageal proper artery [HR: 2.8(1.1,7.0), p = 0.032] were two independent risk factors for the recurrence of hemoptysis. ConclusionsThe recurrence rate of severe hemoptysis in patients with post-tuberculous bronchiectasis receiving BAE is high, and the proper esophageal artery should be actively evaluated and standardized treatment should be given.

Outcomes of Ponseti Method for the Treatment of Clubfeet in Children With Arthrogryposis.

The Ponseti serial casting method is the method of choice in treating children with congenital clubfeet. The arthrogrypotic clubfoot has traditionally been considered challenging to treat, with higher rates of recurrence and the need for more corrective surgeries. However, initial reports have found promising results in using the Ponseti method to treat arthrogrypotic feet. This study aims to compare the outcomes of idiopathic versus arthrogrypotic clubfeet following initial treatment with the Ponseti serial casting method. A retrospective review of medical records from a single institution was conducted. Data was collected from children ages 0 to 18 with idiopathic or arthrogrypotic clubfoot treated from 2002 to 2022 with Ponseti-style serial casting with a minimum 2-year follow-up. Recurrence was defined as the need for additional casting or subsequent surgeries following initial correction. Data was collected on relevant patient demographics, previous treatment, casting records, Achilles tenotomies, and surgical treatments. A total of 352 patients (546 feet) met inclusion criteria. In all, 334 idiopathic and 18 arthrogrypotic patients were analyzed with an average follow-up duration of 3.4 and 4.2 years, respectively. Twelve patients had distal arthrogryposis, and 6 had amyoplasia. In all, 93.4% of idiopathic and 72.2% of arthrogrypotic patients successfully achieved correction with Ponseti casting and Achilles tenotomy. Recurrence rates were significantly higher in the arthrogrypotic group at 83.3% compared with 44.6% in the idiopathic group ( P =0.001). A posterior or posterior medial release was performed in 35.0% of idiopathic and 66.7% arthrogrypotic feet. We report the largest series of arthrogrypotic clubfeet treated by Ponseti casting to the best of our knowledge. In contrast to earlier reports, our investigation underscores that while the Ponseti method may be able to secure initial correction in arthrogrypotic clubfeet, on average, at a 3-year follow-up, the prognosis is less favorable. These patients exhibit higher recurrence and often require operative treatment. Notably, a posterior medial release may eventually be needed in up to 6 of 10 patients. Level III-therapeutic studies-investigating the results of treatment.

Long-term Outcomes of Surgically Treated Congenital Dislocation of the Knee.

Congenital dislocation of the knee (CDK) may be idiopathic or associated with another condition, such as Larsen syndrome or arthrogryposis. Surgical reduction of type-3 dislocation may require quadricepsplasty (QP) or femoral diaphyseal shortening (FS). Because it is unknown which treatment is more effective, we evaluated long-term outcomes using patient-reported questionnaires and gait analysis, comparing results by surgery type and underlying diagnosis. Twelve patients (mean age, 19mo) were treated surgically for CDK from 1985 to 2015 and studied 9 to 30 years postoperatively. Three participants had idiopathic CDK, 5 had Larsen syndrome, and 4 had arthrogryposis. Eleven knees underwent QP and 7 underwent FS. Participants were evaluated in our movement science laboratory and completed patient-reported outcome questionnaires. Data were compared with healthy, age-matched control values at the same visit. Surgically treated knees had less flexion during swing ( P <0.01), less overall motion ( P <0.01), greater coronal instability ( P <0.04), and slower gait ( P <0.01) compared with controls. QP knees had more instability in midstance ( P =0.03) and less flexion during gait compared with FS knees, less sagittal power generation than controls ( P <0.01), and trended toward lower scores on Knee Injury and Osteoarthritis Outcome and Lysholm Knee Questionnaires than FS patients did. The idiopathic group had the gait most similar to that of controls, followed by the Larsen syndrome group and then the arthrogryposis group. The idiopathic group also had a better UCLA Activity Score ( P =0.03) than the arthrogryposis group did. Surgical treatment of type-3 CDK will not likely restore normal knee function, suggesting teratologic joint abnormality. In this small series, FS produced better gait mechanics and patient-reported outcomes compared with QP. Not surprisingly, patients with idiopathic CDK had better outcomes than those with a syndromic diagnosis, likely related to having only a single joint affected. Level III.

Clinical features and prognosis of ANCA-associated vasculitis patients who were double-seropositive for myeloperoxidase-ANCA and proteinase 3-ANCA

Anti-neutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) patients with dual positivity for proteinase 3-ANCA (PR3-ANCA) and myeloperoxidase-ANCA (MPO-ANCA) are uncommon. We aimed to investigate these idiopathic double-positive AAV patients’ clinical features, histological characteristics, and prognosis. We reviewed all the electronic medical records of patients diagnosed with AAV to obtain clinical data and renal histological information from January 2010 to December 2020 in a large center in China. Patients were assigned to the MPO-AAV group or PR3-AAV group or idiopathic double-positive AAV group by ANCA specificity. We explored features of idiopathic double-positive AAV. Of the 340 patients who fulfilled the study inclusion criteria, 159 (46.76%) were female, with a mean age of 58.41 years at the time of AAV diagnosis. Similar to MPO-AAV, idiopathic double-positive AAV patients were older and had more severe anemia, lower Birmingham Vasculitis Activity Score (BVAS) and C-reactive protein (CRP) levels, less ear, nose, and throat (ENT) involvement, higher initial serum creatinine and a lower estimated glomerular filtration rate (eGFR) when compared with PR3-AAV (P < 0.05). The proportion of normal glomeruli of idiopathic double-positive AAV was the lowest among the three groups (P < 0.05). The idiopathic double-positive AAV patients had the worst remission rate (58.8%) among the three groups (P < 0.05). The relapse rate of double-positive AAV (40.0%) was comparable with PR3-AAV (44.8%) (P > 0.05). Although there was a trend toward a higher relapse rate of idiopathic double-positive AAV (40.0%) compared with MPO-AAV (23.5%), this did not reach statistical significance (P > 0.05). The proportion of patients who progressed to ESRD was 47.1% and 44.4% in the idiopathic double-positive AAV group and MPO-AAV group respectively, without statistical significance. Long-term patient survival also varied among the three groups (P < 0.05). Idiopathic double-positive AAV is a rare clinical entity with hybrid features of MPO-AAV and PR3-AAV. MPO-AAV is the “dominant” phenotype in idiopathic double-positive AAV.

Efficacy in Using Urodynamic Parameters of Intravesical Electrical Stimulation for Detrusor Underactivity.

Intravesical electrical stimulation (IVES) remains a controversial therapy for detrusor underactivity (DUA). The purpose of this study is to determine the efficacy of IVES in patients with DUA using pre- and post-IVES urodynamic parameters. Intravesical electrical stimulation procedure is performed using a specific catheter equipped with an internal electrical electrode (cathode). The anode is subsequently affixed to the lower abdomen (suprapubic). Afterward, this specialized catheter is connected to a stimulator. Patients undergo a series of 12 IVES procedures in 1 month with the following predetermined parameters: 20 mA amplitude, 20 Hz frequency, 200 µs pulse width, and 60 minutes stimulation time. Patients underwent a follow-up urodynamic examination 1 month after the IVES series is completed. After IVES, several notable changes were observed, including an increase in Qmax from 7.28 ± 5.24 to 7.29 ± 4.09 (P=.030), a decrease in post-void residual (PVR) from 73.03 ± 43.91 to 62.07 ± 39.10 (P=.005), and an increase in PDet@tQmax from 17.10 ± 12.35 to 18.87 ± 12.47 (P=.009). The aetiologies of DUA were categorized into 3 groups: chronic obstruction (CO), idiopathic (Idio), and neurological disorder (ND). The CO group exhibited significant changes in urodynamic parameters, specifically Qmax (P=.001), PVR (P=.001), and PDet@Qmax (P=.035). Similarly, the idiopathic group also demonstrated improvements in Qmax (P=.008), PVR (P=.037), and PDet@ Qmax (P=.033). Intravesical electrical stimulation has been shown to have a positive effect on patients diagnosed with DUA, particularly those whose DUA is idiopathic or due to chronic obstruction.

Oromandibular dystonia: from onset to spread a multicenter italian study.

Detailed information about the epidemiological and phenomenological differences among the aetiological subtypes of oromandibular dystonia (OMD) is lacking. Moreover, the OMD tendency to spread to other body sites has never been investigated. To compare the main demographic and clinical features of OMD in different aetiological groups and assess the risk of spread. We retrospectively analysed data from patients contained in the Italian Dystonia Registry. The risk of spread was assessed by Kaplan Meyer curves and Cox regression analysis. The study included 273 patients (175 women) aged 55.7years (SD 12.7) at OMD onset. Female predominance was observed. Idiopathic dystonia was diagnosed in 241 patients, acquired dystonia in 22. In 50/273 patients, dystonia started in the oromandibular region (focal OMD onset); in 96/273 patients the onset involved the oromandibular region and a neighbouring body site (segmental/multifocal OMD onset); and in 127/273 patients OMD was a site of spread from another body region. Sensory trick (ST) and positive family history predominated in the idiopathic group. No dystonia spread was detected in the acquired group, whereas spread mostly occurred within the first five years of history in 34% of the focal OMD onset idiopathic patients. Cox regression analysis revealed ST as a significant predictor of spread (HR, 12.1; 95% CI, 2.5 - 18.8; P = 0.002). This large study provides novel information about the clinical phenomenology of idiopathic and acquired OMD. We pointed out a possible role of oestrogens in favouring dystonia development. Moreover, we described for the first time the association between ST and dystonia spread, revealing possible common pathophysiological mechanisms. Our findings may be suggested as a referral point for future pathophysiological and therapeutic studies on OMD.

A retrospective clinicopathological study of erythema nodosum.

Erythema nodosum (EN) may be idiopathic or secondary, and usually resolves naturally within 1-2 months. In atypical EN cases, the rash extends beyond the lower limbs to the upper limbs and trunk, and histopathological findings may be accompanied by vasculitis in addition to septal panniculitis. Few studies have examined the differences in the clinical characteristics of patients with EN based on rash distribution. We retrospectively examined whether there was a correlation with clinical information, such as the presence or absence of underlying diseases, by classifying the patients into two groups: the lower limbs group (the EN rash was confined to the lower limbs) and the beyond lower limbs group (the EN rash appeared beyond the lower limbs). Among the 86 adult patients diagnosed with EN at the Dermatology Department of Fujita Medical University between 2015 and 2020, there were 65 cases of the lower limbs group and 21 cases of the beyond lower limbs group. The frequency of underlying diseases was significantly higher in the beyond lower limbs group (76.2%, 16 cases) than in the lower limbs group (40.0%, 26 cases; P < 0.005). Vasculitis was more notable in the beyond lower limbs group (P < 0.05). Significantly higher vasculitis was noted in the EN group with underlying diseases (30.2%, 13 cases) than in the idiopathic EN group without underlying diseases (11.6%, 5 cases; P < 0.05). Neutrophil extracellular traps were positive in approximately 40% of cases in both groups. In the beyond lower limbs group, the possibility of severe cases with underlying diseases, vasculitis, and inflammation must be considered for effective treatment.

Hemiepiphysiodesis for Genu Valgum in Patients With Multiple Hereditary Exostoses.

Genu valgum is a well-known feature of multiple hereditary exostoses (MHE). Though prior reports have demonstrated successful treatment with hemiepiphysiodesis, details regarding the correction rate and comparison to an idiopathic population are lacking. This study aimed to detail our institution's experience with guided growth of the knee in patients with MHE and compare this to an idiopathic population. All pediatric patients (age 18 and younger) with MHE who underwent lower extremity hemiepiphysiodesis at a tertiary care medical center between January 2016 and December 2022 were retrospectively reviewed. Preoperative and postoperative mechanical lateral distal femoral angle (mLDFA) and medial proximal tibial angle (MPTA, the primary outcomes) were measured in addition to mechanical axis deviation (MAD) and hip-knee-ankle angle (HKA). Patients were 1:2 matched based on age, sex, and physes instrumented to a cohort with idiopathic genu valgum. A total of 21 extremities in 16 patients with MHE underwent hemiepiphysiodesis of the distal femur, proximal tibia, and/or distal tibia. The mean age at surgery was 11.7±2.2 years. Mean MAD corrected from zone 1.9±0.7 to -0.3±1.5, while mLDFA corrected from 83.4±2.9 to 91.7±5.2 degrees and MPTA corrected from 95.3±3.6 to 90.5±4.0 degrees in distal femurs and proximal tibias undergoing guided growth, respectively. Three extremities (14.3%) experienced overcorrection ≥5 degrees managed with observation. There were no differences in correction rates per month for mLDFA (0.54±0.34 vs. 0.51±0.29 degrees, P =0.738) or MPTA (0.31±0.26 vs. 0.50±0.59 degrees, P =0.453) between MHE and idiopathic groups. For 11 extremities in the MHE group with open physes at hardware removal, they experienced a mean recurrence of HKA of 4.0±3.4 degrees at 19-month follow-up. Hemiepiphysiodesis corrects lower extremity malalignment in patients with MHE at a similar rate compared with an idiopathic coronal plane deformity population. Rebound deformity of 4 degrees at 19 months after hardware removal in patients with remaining open growth plates should make surgeons conscious of the remaining growth potential when planning deformity correction. Level III.

Preliminary analysis of stimulation parameters for sacral neuromodulation in different indications: a multicenter retrospective cohort study from China.

Sacral neuromodulation (SNM) is an effective approach for treating lower urinary tract dysfunction (LUTD), and stimulation programming is essential for successful treatment. However, research on SNM programming for various indications is limited. Thus, the authors aimed to determine whether there were differences in the stimulation parameters for different SNM indications and the appropriate programming recommendations. Clinical data were retrospectively collected from patients with LUTD who underwent SNM and completed internal pulse generator implantation. The parameters with the highest patient satisfaction or the most symptom improvement during the test period were considered optimal and used to set the programming after internal pulse generator implantation. After screening, 282 patients were enrolled and categorized into four groups based on the following indications: refractory overactive bladder (OAB) ( n =61), neurogenic lower urinary tract dysfunction (nLUTD) ( n =162), interstitial cystitis/painful bladder syndrome (IC/BPS) ( n =24), and idiopathic nonobstructive urinary retention (NOUR) ( n =35). When analyzing the optimal stimulus parameters, disparities in the stimulation amplitude and pulse frequency were noted among the four groups. The stimulation amplitude in the nLUTD group was higher than that in the idiopathic NOUR group ( P =0.013). Differences in pulse frequency were observed between the refractory OAB and nLUTD groups ( P <0.001) and between the refractory OAB and idiopathic NOUR groups ( P =0.001). No differences in the electrode configuration or pulse width settings existed among the four groups. The stimulation parameters for SNM varied among the different indications. For the initial programming of stage I, most patients are recommended to start with stimulation amplitudes below 2 V, although patients with nLUTD may benefit from higher amplitudes. A standard pulse width of 210μs is recommended for all patients. However, for individuals experiencing nLUTD or idiopathic NOUR, the pulse frequency can begin above the standard 14Hz but not exceed 50Hz.