Clinical findings associated with bladder trabeculations in women

Introduction and hypothesis

This study evaluated whether bladder trabeculations are associated with advanced prolapse, urinary urgency, or detrusor overactivity among women undergoing office cystoscopy. It is well established that bladder trabeculations are associated with bladder outlet obstruction (BOO) in men; however, the clinical significance of trabeculations in women is unclear. Whereas an analogous relationship has been proposed between prostatic obstruction in men and advanced pelvic organ prolapse (POP) in women, little data in the medical literature supports this theory.

Methods

A retrospective cohort study was conducted using Current Procedural Terminology (CPT) codes (52000, 52204) to identify all women who underwent office cystoscopy at our urogynecology center between January 2008 and May 2011. The 551 women identified were grouped by the presence or absence of bladder trabeculations. Multivariable logistic regression was used to estimate the association between trabeculations and the primary aim, increasing stage of prolapse, and the secondary aims: bladder outlet obstruction, detrusor overactivity, or urge urinary incontinence (UUI).

Results

Of the 551 women meeting inclusion criteria, 86 had trabeculations. Controlling for age, the odds of bladder trabeculations were eightfold greater for women with stage IV POP when compared with women with stage 0 prolapse [odds ratio (OR) 8.2, 95 % confidence interval (CI) 1.6–43.1]. The odds of bladder trabeculations were twofold greater for women with detrusor overactivity (OR 2.3, 95 % CI 1.3–4.0) found on urodynamic study and also as reflected subjectively by answers to Pelvic Floor Distress Inventory (PFDI) item number 16 (OR 4.2, 95 % CI 1.3–14.5).

Conclusion

In this study, bladder trabeculations were associated with stage IV prolapse in the anterior compartment as well as with detrusor overactivity and UUI.     

Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in All Affected Members of a Large Multigeneration Family

Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage resulting in arthritis. DDH affects 1 in 1000 newborns in the United States; there are well‐defined “pockets” of high prevalence in Japan, and in Italy and other Mediterranean countries. Although reasonably accurate for detecting gross forms of hip dysplasia, existing techniques fail to find milder forms of dysplasia. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in this age group. A sensitive and specific test for DDH has remained a desirable yet elusive goal in orthopedics for a long time. A 72‐member, four‐generation affected family has been recruited, and DNA from its members retrieved. Genomewide linkage analysis revealed a 2.61‐Mb candidate region (38.7–41.31 Mb from the p term of chromosome 3) co‐inherited by all affected members with a maximum logarithm (base 10) of odds (LOD) score of 3.31. Whole exome sequencing and analysis of this candidate region in four severely affected family members revealed one shared variant, rs3732378, that causes a threonine (polar) to methionine (non‐polar) alteration at position 280 in the transmembrane domain of CX3CR1. This mutation is predicted to have a deleterious effect on its encoded protein, which functions as a receptor for the ligand fractalkine. By Sanger sequencing this variant was found to be present in the DNA of all affected individuals and obligate heterozygotes. CX3CR1 mediates cellular adhesive and migratory functions and is known to be expressed in mesenchymal stem cells destined to become chondrocytes. A genetic risk factor that might be among the etiologic factors for the family in this study has been identified, along with other possible aggravating mutations shared by four severely affected family members. These findings might illuminate the molecular pathways affecting chondrocyte maturation and bone formation. © 2013 American Society for Bone and Mineral Research.     

Phospholipase A2 receptor staining in pediatric idiopathic membranous glomerulopathy

Background

Membranous glomerulopathy, though typically a disease of adults, does occur in children. Antiphospholipase A2 receptor (PLA2R) autoantibodies have recently been implicated as a causative agent in most cases of adult primary (idiopathic) membranous glomerulopathy. PLA2R staining of renal biopsies in two recent large case series of adults with primary membranous glomerulopathy showed a sensitivity of approximately 75 % for detecting primary membranous glomerulopathy. To our knowledge, this is the largest study of its kind to assess PLA2R staining in a pediatric population.

Methods

Forty-one consecutive cases of pediatric membranous glomerulopathy were identified from our database, and clinical follow-up was performed to confirm primary membranous glomerulopathy. Twenty-two patients met inclusion criteria and are the subject of this report.

Results

Granular, capillary loop immunofluorescence staining for immunoglobulin G (IgG) was present in 100 % of patients, and C3 staining was present in 77 %. PLA2R staining was identified in ten patients, providing a sensitivity of 45 % [confidence interval (CI) 25–67 %]. Bovine serum albumin staining was performed in all PLA2R-negative cases and showed no positivity. Morphologic findings associated with negative PLA2R staining included segmental membranous lesions, mesangial and subendothelial deposits, C1q and “full-house” staining, and lower-stage lesions by electron microscopy. At 38 months’ average follow-up, all patients were still considered as having primary membranous glomerulopathy, with none developing a clinically detectable secondary etiology.

Conclusions

PLA2R staining sensitivity is much lower in the pediatric than the adult primary membranous glomerulopathy population. This finding suggests a more diverse and currently incompletely described set of etiologies for this disease in this group.