Do adult patients with congenital colorectal conditions know their diagnosis?

PURPOSE: Limited research exists about the knowledge that adult patients have about their congenital colorectal diagnosis. METHODS: This was an IRB approved, prospective study of patients in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Surveys were administered through REDCap after patients consented to being contacted for research purposes. Patients provided demographic data, which was linked to surgical records, and the diagnoses provided by patients were compared with diagnoses recorded by the original surgeons. RESULTS: One hundred and thirty-one questionnaires were collected, 115 patients had anorectal malformations (ARM) and 16 had Hirschsprung disease (HD). Seven patients who had ARM were unaware that they had an ARM or HD. The type of ARM recorded by the surgeon was unavailable for comparison with the patient's reported diagnosis in four cases. Of the 111 remaining patients with ARM, only 32 of them (29%) knew what their own type of anomaly was. Female patients recalled their diagnosis more often than male patients (42.4% vs 13.5%). All 16 participants with HD correctly identified their diagnosis severity as HD with or without total colonic aganglionosis. CONCLUSION: The results of this study demonstrate patient's limited understanding of their type of ARM and highlight the urgent need to enhance communication and education strategies, such as issuing patients with medical diagnosis identification cards. It is critical for clinicians to better communicate with patients to ensure that they and their relatives truly understand their precise diagnosis. Adequately informed patients can better advocate for themselves, adhere to treatments and precautionary recommendations and navigate the complexities of transitional care. Consequently they can more effectively manage their lifelong complications.

Functional, histological and molecular characteristics of human exstrophy detrusor.

INTRODUCTION: Bladder exstrophy is a congenital anomaly involving foetal exposure and protrusion of the open bladder through an incomplete lower abdominal wall. Techniques to surgically correct exstrophy after birth have greatly improved, but it still presents a major challenge to achieve continence and a good quality of life for patients and their families as the pathophysiology of bladder dysfunction is unknown. OBJECTIVES: A multimodal approach was used to characterise the histological and biomechanical properties of exstrophy detrusor. These were correlated with myocyte responses to agonists and an evaluation of developmental signalling pathways to evaluate the cause of bladder dysfunction in exstrophy. STUDY DESIGN: Detrusor muscle specimens were obtained during corrective surgery from four exstrophy groups: neonatal (1-3 days, n = 8), younger children (7 months-5 years, n = 13) and older children (8-14 years, n = 11) undergoing secondary procedures and cloacal exstrophy (16 days-9 years, n = 9); control specimens were obtained from children (3 months-9 years, n = 14) undergoing surgery for other pathologies but with normal bladder function. Five lines of experiments were undertaken: measurement of connective tissue to detrusor muscle ratio, contractile responses to electrical and agonist stimulation; in vitro biomechanical stiffness, intracellular Ca2+ responses to contractile agonists and immunohistochemistry for proteins (MMP-7, cyclinD1, ß-catenin and c-myc) involved in fibrosis generation. Exstrophy data were compared with those from the control group. RESULTS: Exstrophy tissue demonstrated reduced smooth muscle compared with connective tissue, reduced contractile responses and greater mechanical stiffness. However, intracellular Ca2+ responses to agonists were maintained. These changes were greatest in neonatal and cloacal exstrophy samples and least in those from older paediatric bladders. Immunolabelled MMP-7, ß-catenin and c-myc were reduced in exstrophy samples. DISCUSSION: These results highlight the reality that newborns with exstrophy have significantly reduced compliance and bladder underactivity, which may persist or return to normal values with surgery and age. The primary cause of underactivity is increased connective tissue in relation to detrusor muscle; however, detrusor myocyte function remains normal. Finally, the increase of the smooth muscle content in the paediatric bladder group indicates a remodelling response of the bladder to surgical correction and time. Excess gestational fibrosis is associated with changed expression of key proteins in the Wnt-signalling pathway, a potential aetiological factor and therapeutic target. CONCLUSION: Results point to connective tissue deposition as the primary pathological process that determines bladder function with normal myocyte function. Future research that reduces connective tissue deposition may lead to improvement in outcomes for these children.

Modeling the urinary tract-computational, physical, and biological methods.

Models of the lower urinary tract are used to understand better the physiological and pathological functions of the tract and to gain insight into the relative importance of different components. The key requirement of a model is described, namely: to involve a continuous iteration with experiment; whereby experiments provide parameters and validation for components of the model, which is then used to generate hypotheses, which are tested experimentally. Different types of models are described: computational models that describe mathematically the whole urinary tract or components; physical models useful especially in testing medical devices; and tissue-engineered models. The purpose of modeling is first described in terms of the ability of models to predict the properties of the system of interest, using components that have a physiological interpretation, and to gain insight into the relative importance of different components. Examples are used to illustrate the use of modeling the urinary tract with reference to the different categories listed above.

A semi-centennial report on the participants depicted in Joel Babb's portrait, 'the first successful kidney transplantation'.

Joseph Murray performed the first successful human kidney transplant on December 23, 1954. Forty-three years later, he along with participants Francis Moore and Leroy Vandam, commissioned a painting of the event from artist Joel Babb (1). To document this unique record of medical history, we identify all those present at the operation and depicted in the portrait, describe how the artist created the work, explain irregularities and inaccuracies in the painting, provide a 50-year follow-up on everyone involved, and comment on any influence this landmark event may have had on their subsequent careers.

A study of how urology out-patients like to receive clinical information.

INTRODUCTION: As part of the NHS Plan the UK Department of Health has suggested that both patients and general practitioners (GPs) are written to following hospital consultations. We audited the responses of patients and GPs to this practice. PATIENTS AND METHODS: A total of 160 patients in one consultant urologist's clinic were included. The consultant had never routinely copied GP letters to patients. The SpR in the same clinic had routinely done so in previous posts. Patients who had received letters (group A) and those who had not (group B) were asked to complete a postal questionnaire. GPs were also sent a questionnaire to assess their opinion. The responses were analysed. RESULTS: Questionnaires were sent out to patients (80 to group A and 80 to group B. From this, 100 (62.5%) responses were received (A 48 [60%]; B 52 [65%]). Of respondents, 81% were male. Overall, 98% of those patients who received a letter agreed with its contents, and stated they would keep the letter and take it to a subsequent doctor's appointment. Of respondents, 83% (A) and 96% (B) had never received a doctor's letter before but 83% (40 [83%, A], 43 [83%, B]; P > 0.05) of respondents would like to receive doctors' letters in the future. some 22 GP practices received and completed questionnaires at a PCT meeting and 74% of GPs agreed with the practice of copying patients their letters. CONCLUSIONS: The results of this study suggest that patients should be offered a copy of their letter and that their response should be documented in the notes. This may serve to improve communication with the patient but should not be undertaken without their agreement.

Standing the test of time: the long-term results of urethroplasty.

The principle indication for urethral surgery is stricture disease. There are a number of factors that influence the outcome of surgery including location of the stricture, stricture length, aetiology, previous surgery and selection of procedure. Outcomes for different techniques are summarised. The gold standard remains anastomotic urethroplasty, where appropriate, with patch urethroplasty or two-stage stage procedures for more complicated strictures especially the penile urethra.

Stomal complications of ileal conduits are significantly higher when formed in women with intractable urinary incontinence.

PURPOSE: The ileal conduit is held to be the safest and simplest form of urinary diversion. There are few reports about long-term problems after ileal conduit formation, especially intractable urinary incontinence in females. We reviewed long-term stomal complications in patients with an ileal conduit. MATERIALS AND METHODS: Notes on 93 consecutive patients in whom an ileal conduit was created were reviewed. Information was collected on patient demographics, indications for an ileal conduit and long-term complications, in particular parastomal and incisional hernias, stomal retraction, stenosis or prolapse and the development of a redundant loop. Mean followup available was 63.4 months (range 1 to 434). RESULTS: A total of 33 males with a mean age of 60.1 years (range 2 to 78) and 60 females with a mean age of 48.2 years (range 4 to 79) underwent ileal conduit diversion. The main indications for an ileal conduit were intractable incontinence in 44 patients (47%), cancer in 31 (33%) and interstitial cystitis in 8 (9%). In male, continent female and incontinent female patients A parastomal hernia developed in 3 (9%), 2 (9.5%) and 12 (31%), an incisional hernia developed in 1 (3%), 1 (4.8%) and 2 (5%), stomal retraction developed in 0, 2 (9.5%) and 12 (31%), stomal stenosis developed in 0 (0%), 1 (4.8%) and 6 (15.4%), and a redundant loop developed in 0 (0%), 2 (9.5%) and 5 (12.8%), respectively. A total of 23 patients (24.7%) required further surgery for stomal problems with 13 (57%) requiring more than 1 reoperation, of whom 9 were incontinent females. CONCLUSIONS: An ileal conduit is associated with a stomal complication rate of 34.4% (61% in incontinent females and 18% in other patients) and a 4.3% incisional hernia rate. Reoperation is required for stomal complications in 24.7% of cases. Stomal complication rates and reoperation rates vary by sex and the indication for ileal conduit, and they are significantly higher for those performed for intractable urinary incontinence in females.

The morbidity of buccal mucosal graft harvest for urethroplasty and the effect of nonclosure of the graft harvest site on postoperative pain.

PURPOSE: We assess the medium and long-term morbidity of buccal mucosal graft (BMG) harvest for urethroplasty, and evaluate the effect of nonclosure of the graft harvest site on postoperative pain. MATERIALS AND METHODS: A questionnaire was mailed to 110 men who underwent BMG urethroplasty between January 1, 1997 and August 31, 2002. Demographic data and side effects of BMG harvest, including oral pain, sensation and intake, were assessed postoperatively. A prospective study was then performed to compare 20 unselected men whose BMG donor site was closed with a group of 20 men in whom it was left open using a 5-point analog pain score that was completed twice daily for the first 5 postoperative days. RESULTS: A total of 49 men with a median age of 49 years (range 23 to 73) returned questionnaires relating to 57 BMG harvests. Of the graft harvests 47 (83%) were associated with postoperative pain, which was worse than expected in 24 (51%). Of the 57 patients 51 (90%) resumed oral liquid intake within 24 hours and 44 (77%) resumed normal diet within 1 week. Postoperative side effects included perioral numbness in 39 (68%) patients with 15 (26%) having residual numbness after 6 months, initial difficulty with mouth opening in 38 (67%) with 5 (9%) having persistent problems, changes in salivation in 6 (11%) and mucous retention cyst that required excision in 1 (2%). The men in the prospective donor site study had a median age of 51 years (range 24 to 70). Mean pain score for patients with donor site closure was 3.68 and was significantly higher than that for patients without donor site closure (2.26, p < 0.01). CONCLUSIONS: Buccal mucosal graft harvest is not a pain-free procedure. Closure of the harvest donor site appears to worsen this pain and it may be best to leave harvest sites open. The main long-term complications are perioral numbness, persistent difficulty with mouth opening and change in salivary function.

Characterization of the control of intracellular [Ca2+] and the contractile phenotype of cultured human detrusor smooth muscle cells.

PURPOSE: We measured the functional properties of cultured human detrusor myocytes with respect to their ability to regulate their intracellular [Ca2+] and generate force in collagen matrices. MATERIALS AND METHODS: Human detrusor biopsies were dissociated into single cells by collagenase treatment and used immediately or cultured in D-valine medium and subsequently used after culture trypsinization. Intracellular [Ca2+] was measured in Fura-2 loaded myocytes. Cell force development was measured by incorporating cells into a collagen gel and attaching it to an isometric strain gauge. RESULTS: Carbachol was equally effective in generating Ca transients in freshly isolated and cultured cells. Carbachol potency (pEC50) and the magnitude of Ca2+ transients were similar. Adenosine triphosphate potency was decreased in cultured cells and Ca2+ transients showed properties consistent with a purinoceptor shift from a purinergic subtype. Temporal restitution of Ca2+ transients was similar in the 2 groups, indicative of retained intracellular Ca2+ stores in cultured cells. Cultured cells (approximately 10(6)) embedded in collagen gel generated a force about 10 times greater than that generated by gel alone. The cell dependent force could be further increased by adding carbachol. CONCLUSIONS: Cultured cells retain the ability to generate agonist induced intracellular Ca2+ transients. There was no evidence that the cell culture altered the properties of muscarinic receptors, although purinoceptor mediated properties were altered. Restitution experiments indicated that functional intracellular Ca2+ stores were retained in cultured cells. Cultured cells also retained a contractile phenotype, especially in response to carbachol. The magnitude of force was attenuated, which may be a function of the biomechanical properties of the gel used to embed the cells.

Selected chitinase genes in cultured and uncultured marine bacteria in the alpha- and gamma-subclasses of the proteobacteria.

PCR primers were patterned after chitinase genes in four gamma-proteobacteria in the families Alteromonadaceae and Enterobacteriaceae (group I chitinases) and used to explore the occurrence and diversity of these chitinase genes in cultured and uncultured marine bacteria. The PCR results from 104 bacterial strains indicated that this type of chitinase gene occurs in two major groups of marine bacteria, alpha- and gamma-proteobacteria, but not the Cytophaga-Flavobacter group. Group I chitinase genes also occur in some viruses infecting arthropods. Phylogenetic analysis indicated that similar group I chitinase genes occur in taxonomically related bacteria. However, the overall phylogeny of chitinase genes did not correspond to the phylogeny of 16S rRNA genes, possibly due to lateral transfer of chitinase genes between groups of bacteria, but other mechanisms, such as gene duplication, cannot be ruled out. Clone libraries of chitinase gene fragments amplified from coastal Pacific Ocean and estuarine Delaware Bay bacterioplankton revealed similarities and differences between cultured and uncultured bacteria. We had hypothesized that cultured and uncultured chitin-degrading bacteria would be very different, but in fact, clones having nucleotide sequences identical to those of chitinase genes of cultured alpha-proteobacteria dominated both libraries. The other clones were similar but not identical to genes in cultured gamma-proteobacteria, including vibrios and alteromonads. Our results suggest that a closer examination of chitin degradation by alpha-proteobacteria will lead to a better understanding of chitin degradation in the ocean.

Survey of medical literature borrowed from the national lending library for science and technology.

This paper reports the results of a four-week questionnaire survey carried out at the National Lending Library (N.L.L.), Great Britian, to discover which types of organizations were the principal users of medical literature, what types of literature were used, and which were the main sources of references to medical publications. Industrial organizations and universities accounted for the majority (62 percent) of the loans, most of which were English-language periodicals published since 1960. For the whole sample, citation lists in periodical articles were the principal sources of references, although for literature published in the last fifteen months, abstracting and indexing journals were the main sources. Of the latter, Index Medicus proved to be the most fruitful source of references. By asking whether the item requested was really useful to their work, a measure of the reliability of the different sources of references was obtained. Appendixes include the questionnaire, a list of the most frequently borrowed journals, and a list of abstracting and indexing journals used as sources of references.