Comparison of MRI, MRA, and DSA for Detection of Cerebral Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.

BACKGROUND AND PURPOSE: Patients with hereditary hemorrhagic telangiectasia (HHT) have a high prevalence of brain vascular malformations, putting them at risk for brain hemorrhage and other complications. Our aim was to evaluate the relative utility of MR imaging and MRA compared with DSA in detecting cerebral AVMs in the HHT population. MATERIALS AND METHODS: Of 343 consecutive patients evaluated at the University of California, San Francisco HTT Center of Excellence, 63 met the study inclusion criteria: definite or probable hereditary hemorrhagic telangiectasia defined by meeting at least 2 Curacao criteria or positive genetic testing, as well as having at least 1 brain MR imaging and 1 DSA. MRIs were retrospectively reviewed, and the number of AVMs identified was compared with the number of AVMs identified on DSA. RESULTS: Of 63 patients, 45 (71%) had AVMs on DSA with a total of 92 AVMs identified. Of those, 24 (26%) were seen only on DSA; 68 (74%), on both DSA and MR imaging; and 5 additional lesions were seen only on MR imaging. Of the 92 lesions confirmed on DSA, 49 (53.3%) were seen on the 3D-T1 postgadolinium sequence, 52 (56.5%) were seen on the 2D-T1 postgadolinium sequence, 35 (38.0%) were seen on the SWI sequence, 24 (26.1%) were seen on T2 sequence, and 25 (27.2%) were seen on MRA. The sensitivity and specificity of MR imaging as a whole in detecting AVMs then confirmed on DSA were 80.0% and 94.4%, respectively, and the positive and negative predictive values were 97.3% and 65.4%, respectively. CONCLUSIONS: This study reinforces the use of MR imaging as a primary screening tool for cerebral AVMs in patients with hereditary hemorrhagic telangiectasia and suggests that 3D-T1 postgadolinium and 2D-T1 postgadolinium performed at 3T are the highest yield sequences.

A prospective cohort study characterising patients declined emergency laparotomy: survival in the 'NoLap' population.

Patients eligible for emergency laparotomy who do not proceed to surgery are not as well characterised as patients who do proceed to surgery. We studied patients eligible for laparotomy, as defined by National Emergency Laparotomy Audit criteria, from August 2015 to October 2016. We analysed the association of individual variables with survival and two composite scores: P-POSSUM and a general survival model. Out of 314 patients, 214 (68%) underwent laparotomy and 100 (32%) did not. Median (IQR [range]) follow-up was 1.3 (0.1-1.8 [0.0-2.5]) years for the cohort, 1.5 (1.1-2.0 [0.0-2.6]) years after laparotomy and 0.0 (0.0-1.1 [0.0-2.2]) years without laparotomy. There were 126/314 (40%) deaths in the follow-up period, 52/214 (24%) deaths after laparotomy and 74/100 (74%) deaths without surgery. Ninety out of 126 deaths (71%) were within one month of hospital admission. Patient variables were different for the two groups, which when combined in the general survival model generated background median (IQR [range]) life expectancies of 12 (6-21 [0-49]) and 4 (2-6 [0-36]) years, respectively, p < 0.0001. 'Poor fitness' precluded laparotomy in 74/100 (74%) patients. The decision to not operate involved a consultant less often than the decision to operate: 66/100 (66%) vs. 178/214 (83%), p = 0.001. Our study supports the contention that survival beyond 30 postoperative days could be predicted reasonably accurately. Survival in patients who did not have laparotomy was shorter than expected. Emergency laparotomy might have prolonged survival in some patients.

Trauma video review utilization: A survey of practice in the United States.

INTRODUCTION: Trauma video review (TVR) for quality improvement and education in the United States has been described for nearly three decades. The most recent information on this practice indicated a declining prevalence. We hypothesized that TVR utilization has increased since most recent estimates. METHODS: We conducted a survey of TVR practices at level I and level II US trauma centers. We distributed an electronic survey covering past, current, and future TVR utilization to the Eastern Association for the Surgery of Trauma membership. RESULTS: 45.0% of US level I and level II trauma centers completed surveys. 71/249 centers (28.5%) had active TVR programs. The use of TVR did not differ between level I and level II centers (28.8% vs. 27.8%, p = 0.87). Respondents using TVR were overwhelmingly positive about its perception (median score 8, [IQR 6-9]; 10 = 'best') at their institutions. CONCLUSIONS: TVR use at Level I centers has increased over the past decade. Increased TVR utilization may form the basis for multicenter studies comparing processes of care during trauma resuscitation.

Four cases of Raoultella planticola conjunctivitis.

AIMS: This brief report of four cases of conjunctivitis caused by Raoultella planticola provides a description of possibly the first documented cases of this eye infection. METHODS: The laboratory database and medical records were used to trace all the R. planticola-positive conjunctival swabs obtained in our institution. Four cases were identified and available relevant information was obtained. RESULTS: This organism causes a non-specific purulent conjunctivitis that seems to have a benign course and tends to be responsive to a topical fluoroquinolone. CONCLUSIONS: The possibility of atypical organisms must be considered when managing infective conjunctivitis. Conjunctival swabs should be obtained and topical treatment switched when initial empirical therapy fails.

Does self-motivation improve success rates of pelvic floor muscle training in women with urinary incontinence in a secondary care setting?

INTRODUCTION AND HYPOTHESIS: Pelvic floor muscle training (PFMT) is the recommended first-line treatment for women with urinary incontinence (UI). Success rates are variable and dependent on a number of factors. The development of an incontinence treatment motivation questionnaire (ITMQ) provides us with a tool to assess patient self-motivation with respect to PFMT and UI. The aim of this study was to determine the effect of women's self-motivation to perform PFMT on outcome. METHODS: Women with stress predominant UI completed an ITMQ and a 24-h pad test and then underwent a 12-week course of supervised PFMT. At the end of their treatment they completed a patient global impression of improvement questionnaire (PGI-I) and a second 24-h pad test. The PGI-I scores and the difference in pad test weight correlated with the ITMQ according to Spearman's correlation coefficient. RESULTS: Sixty-five women were recruited. Thirty-two (49%) patients perceived themselves as having improved, 28 women (43%) did not experience any change in symptoms and 5 women (8%) felt that their symptoms deteriorated following treatment. When correlating the PGI-I with the ITMQ, 3 of the 5 domains: MQS1 (positive attitude for treatment; p = 0.003), MQS3 (frustration of living with incontinence; p = 0.002) and MQS4 (desire for treatment; p = 0.002) correlated significantly with outcome. Desire for treatment was the only domain to correlate with change in pad weight (p = 0.001). CONCLUSION: Self-motivation is essential in order to determine improved success rates with PFMT.

Lower urinary tract symptoms in women with benign joint hypermobility syndrome: a case-control study.

INTRODUCTION AND HYPOTHESIS: Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder associated with joint hypermobility. BJHS is under-recognised by medical professionals and is poorly managed. The aim of our study was to determine whether lower urinary tract symptoms (LUTS), including urinary incontinence (UI) and anterior compartment prolapse, are more common in women with BJHS than in the normal population. METHODS: This was a prospective case-control study. Women diagnosed with BJHS according to the Brighton criteria were recruited from a tertiary referral clinic. Controls were recruited from hospital personnel. Both groups completed the King's Health Questionnaire (KHQ) and the Prolapse Quality of Life Questionnaire (P-QoL). Objective assessment of pelvic organ prolapse (POP) was undertaken using the Pelvic Organ Prolapse Quantification (POP-Q) system. Analyses were performed using SPSS version 17.0. The statistical difference was analysed using McNemar's test. Comparison of QoL scores was performed with the Wilcoxon signed-rank test. RESULTS: Sixty individuals were recruited and matched with 60 healthy women. The prevalence of UI in those with BJHS was significantly higher than in controls(73.3 % vs. 48.3 %). The impact of UI on QoL was statistically significant in all domains of the KHQ. There was a significant difference between groups in most urinary-specific symptoms of the KHQ. A significant number of women with BJHS suffer from voiding difficulties. Prolapse of the anterior vaginal wall was objectively more severe in those with BJHS. CONCLUSIONS: Women with BJHS have LUTS and anterior compartment prolapse, which significantly impair their QoL. It is important to identify women who are symptomatic. The addition of a systematic active case-finding approach may be more effective in identifying these cases.

Prolapse and sexual function in women with benign joint hypermobility syndrome.

OBJECTIVE: To determine whether pelvic organ prolapse (POP) and sexual dysfunction are more severe in women with benign joint hypermobility syndrome (BJHS) than in the normal population. DESIGN: Case-control study. SETTING: King's College Hospital NHS Foundation Trust, London, UK and University College Hospital, London, UK. POPULATION: Women diagnosed with BJHS (n = 60) at University College Hospital. Control participants (n = 60) recruited from King's College Hospital NHS Foundation Trust. METHODS: Objective assessment of POP was undertaken using the Pelvic Organ Prolapse Quantification System (POP-Q). Both groups were asked to complete the Prolapse quality of life (P-QOL) and pelvic organ prolapse/urinary incontinence sexual (PISQ-12) questionnaires. MAIN OUTCOME MEASURES: Comparison of vaginal anatomy using POP-Q between the two groups. Comparison of P-QOL and PISQ-12 quality of life scores between the two groups. RESULTS: In all, 120 women (60 in Study group, 60 in Control group) were recruited. All women in the study group were matched with healthy control women according to age, parity and ethnicity. There was a statistically significant difference between points Aa, Ba, Ap, Bp and C in study and control groups showing that prolapse is objectively more severe in those with BJHS. Significantly more women with BJHS felt that POP interfered with sex and defecation compared with the control group. The impact of prolapse symptoms on quality of life was statistically different in almost all nine P-QOL domains. CONCLUSIONS: A large number of women with BJHS have prolapse symptoms, which significantly affect their quality of life. POP is more severe in women with BJHS.

Prognostic research and its potential role in modern gynaecology: a call for more prognostic research in urogynaecology.

Over the last 30 years, many researchers have focussed on therapeutic and aetiological studies. Randomised controlled trials (RCT) are considered the 'gold standard' in research circles ( Ward et al. 2004 ). Prognostic research has been neglected probably due to a combination of a lack of perception of its importance and also a failure to produce good quality trials. The word 'prognosis' means the ability to foresee or predict an outcome or an event. Prognostic research in medicine is the ability to predict the likelihood of outcomes from a number of clinical variables. There are two main forms of prognostic research. One form identifies the prognostic value of a single risk factor (e.g. a tumour marker). The second one focuses on the development of a model based on multiple variables and is called multivariable prognostic modelling. The planning and powering of prognostic studies is managed differently from traditional randomised controlled trials.

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

Clubfoot is a common birth defect characterized by inward posturing and rigid downward displacement of one or both feet. The etiology of syndromic forms of clubfoot is varied and the causes of isolated clubfoot are not well understood. A microduplication of 2.2 Mb on chromosome 17q23.1q23.2 which includes T-box 4 (TBX4), a hindlimb-specific gene, and 16 other genes was recently identified in 3 of 66 families reported as nonsyndromic clubfoot, but additional non-foot malformations place them in the syndromic clubfoot category. Our study assesses whether variation in or around TBX4 contributes to nonsyndromic clubfoot. To determine whether this microduplication was a common cause of nonsyndromic clubfoot, 605 probands (from 148 multiplex and 457 simplex families) with nonsyndromic clubfoot were evaluated by copy number and oligonucleotide array CGH testing modalities. Only one multiplex family (0.68%) that had 16 with clubfoot and 9 with other foot anomalies, had a 350 kb microduplication, which included the complete duplication of TBX4 and NACA2 and partial duplication of BRIP1. The microduplication was transmitted in an autosomal dominant pattern and all with the microduplication had a range of phenotypes from short wide feet and toes to bilateral clubfoot. Minimal evidence was found for an association between TBX4 and clubfoot and no pathogenic sequence variants were identified in the two known TBX4 hindlimb enhancer elements. Altogether, these results demonstrate that variation in and around the TBX4 gene and the 17q23.1q23.2 microduplication are not a frequent cause of this common orthopedic birth defect and narrows the 17q23.1q23.2 nonsyndromic clubfoot-associated region.

The bladder diary: do women perceive it as a useful investigation?

OBJECTIVE: The completion of a bladder diary is routinely undertaken as part of the initial assessment of women presenting with lower urinary tract symptoms. Anecdotally some women find it a nuisance to fill in a fluid volume chart. The QQ10 is a questionnaire which has been developed to evaluate the use of other questionnaires or investigations. This study aims to assess women's perception of completing a bladder diary as part of their investigative process and to identify reasons why some may fail to complete one. STUDY DESIGN: All women attending a one-stop urogynaecology clinic were sent instructions to fill in a three-day bladder diary. Those who filled a diary in were asked to fill in a QQ10 questionnaire. Those who did not fill one in were asked to give a reason for not doing so. RESULTS: 128 women attended the clinic over a study period. Of these 100 (78%) completed a diary and hence a modified QQ10 form and 28 women (22%) did not. The mean value score was found to be high, at 72.6 (SD 17.87) whilst the mean burden score was low at only 27.7 (SD. 21.14). The majority of women who did not fill one in claimed they had not received a diary in the first place. CONCLUSION: Most women appear to fill in a diary. The high mean value score and the low mean burden score indicate that women do not find filling in a diary a particularly onerous task.

An unusual case of pediatric painless ophthalmoplegia.

Acquired unilateral ophthalmoplegia in childhood has many potential causes. Tolosa-Hunt Syndrome is characterized by painful ophthalmoplegia caused by nonspecific inflammation of cavernous sinus or superior orbital fissure. It is rarely present in children. Corticosteroid treatment is the current mainstay of treatment but cases of THS that failed to respond to steroids have been reported. We report a case of cavernous sinus pseudotumour presenting as a painless ophthalmoplegia in a child, in which complete resolution was spontaneous. To our knowledge, such a case has never been reported in the literature.

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.

Heterozygous humans for PAX2 mutations show autosomal dominant papillorenal syndrome (PRS), consisting of ocular colobomas, renal hypo/dysplasia and progressive renal failure in childhood. PAX2 mutations have also been identified in patients with isolated renal hypo/dysplasia. Twenty unrelated children and young adults with kidney and urinary tract malformations and no ocular abnormalities were retrospectively recruited for PAX2 mutational analysis. All patients had undergone renal transplantation after end-stage renal disease. We identified two new sequence variations: (i) a deletion causing a frameshift (c.69delC) and (ii) a nucleotide substitution determining a splice site mutation (c.410+5 G/A) by predictive analysis. Therefore, we suggest PAX2 molecular analysis to be extended to all patients with congenital malformations of kidney and urinary tract (CAKUT).

Prevalence of incontinence and incontinence-specific quality of life impairment in women with cystic fibrosis.

AIMS: Cystic fibrosis (CF) is the commonest autosomal recessive disorder in Caucasians. With advancing medical technology, the life expectancy has more than double in the last twenty years. This has led to new unforeseen health problems like urinary incontinence. The aim was to establish the prevalence, symptomatic typology, and quality of life impact of incontinence in a population of women with CF. METHODS: Women were recruited from two London tertiary referral centres for CF. They were asked to fill in a self- completed anonymous King's Health Questionnaire (KHQ) for assessment of symptoms and quality of life Impairment. Their age was also noted. Descriptive statistics are reported. Correlation was assessed using Pearson's Product Moment Correlation Coefficient (r). RESULTS: One hundred and forty six women were approached for enrolment. 98(67%) consented to take part in study. Their mean age was 28. Seventy three (74%) reported symptoms of urinary incontinence, which in all cases was perceived as stress urinary incontinence. Of these 44(60%) reported mild stress incontinence, 16(22%) moderate stress incontinence and 13(18%) severe stress incontinence. Continent and incontinent women perceived their general health to be similarly poor (mean score 40 vs 44 points). Strong positive correiations were found between age and stress urinary incontinence severity (r=0.742; P <0.001) and between age and total King's Health Questionnaire score (r=0.828; P <0.001). CONCLUSIONS: Women with CF have a higher prevalence of stress urinary incontinence than the general population, with both the prevalence and associated quality of life impairment increasing with age.

Hypothalamic AMP-activated protein kinase activation with AICAR amplifies counterregulatory responses to hypoglycemia in a rodent model of type 1 diabetes.

In nondiabetic rodents, AMP-activated protein kinase (AMPK) plays a role in the glucose-sensing mechanism used by the ventromedial hypothalamus (VMH), a key brain region involved in the detection of hypoglycemia. However, AMPK is regulated by both hyper- and hypoglycemia, so whether AMPK plays a similar role in type 1 diabetes (T1DM) is unknown. To address this issue, we used four groups of chronically catheterized male diabetic BB rats, a rodent model of autoimmune T1DM with established insulin-requiring diabetes (40 +/- 4 pmol/l basal c-peptide). Two groups were subjected to 3 days of recurrent hypoglycemia (RH), while the other two groups were kept hyperglycemic [chronic hyperglycemia (CH)]. All groups subsequently underwent hyperinsulinemic hypoglycemic clamp studies on day 4 in conjunction with VMH microinjection with either saline (control) or AICAR (5-aminoimidazole-4-carboxamide) to activate AMPK. Compared with controls, local VMH application of AICAR during hypoglycemia amplified both glucagon [means +/- SE, area under the curve over time (AUC/t) 144 +/- 43 vs. 50 +/- 11 ng.l(-1).min(-1); P < 0.05] and epinephrine [4.27 +/- 0.96 vs. 1.06 +/- 0.26 nmol.l(-1).min(-1); P < 0.05] responses in RH-BB rats, and amplified the glucagon [151 +/- 22 vs. 85 +/- 22 ng.l(-1).min(-1); P < 0.05] response in CH-BB rats. We conclude that VMH AMPK also plays a role in glucose-sensing during hypoglycemia in a rodent model of T1DM. Moreover, our data suggest that it may be possible to partially restore the hypoglycemia-specific glucagon secretory defect characteristic of T1DM through manipulation of VMH AMPK.

HLA-DRB1 and multiple sclerosis in Malta.

BACKGROUND: By comparison with the neighboring island of Sicily, the frequency of multiple sclerosis (MS) in Malta is remarkably low. METHODS: To explore whether the relative rarity of MS in Malta might be the result of lower population frequencies of major histocompatibility complex susceptibility alleles, we genotyped the HLA-DRB1 locus in 77 Maltese-born patients (97% of the prevalent unrelated native cases) and 206 Maltese controls. We made comparisons with previously published data for Sicily and other European countries. RESULTS: The anticipated association with HLA-DRB1*15, the main susceptibility allele in most other populations, was confirmed (p(c) = 0.009) but, in addition, we also observed an equally strong, and apparently protective, effect of the HLA-DRB1*11 allele (p(c) = 0.016). In comparison with previously published data from Sicily, we found that all HLA-DRB1 risk alleles were more common in Malta, whereas HLA-DRB1*11 was slightly less common. CONCLUSIONS: The difference in prevalence seen between the neighboring islands of Malta and Sicily cannot be explained by differences in background HLA-DRB1 population allele frequencies, which if anything would predict a higher rate of disease in Malta than in Sicily.

Effect of tension-free vaginal tape position on the resolution of irritative bladder symptoms in women with mixed incontinence.

The aim of this study was to determine whether the position of the tension-free vaginal tape (TVT) has an effect on the resolution of irritative symptoms in women undergoing the TVT operation. Initial audit suggested that more distally placed tapes were more likely to result in the resolution of irritative symptoms. An appropriately powered study was designed to test this theory. Seventy-seven women with urodynamic evidence of detrusor overactivity and urodynamic stress incontinence underwent a transperineal ultrasound scan to ascertain the position of the tape after a TVT. The tape was categorised as proximal, middle or distal urethra. The resolution of irritative symptoms was assessed compared to the TVT position. Forty-five women had distal tapes, 30 had mid-urethral tapes and two had proximal tapes. Women with the TVT placed on the distal urethra were no more likely to experience resolution of their irritative symptoms than women with tapes on the mid-urethra (p > 0.05). Placement of the TVT on any one part of the urethra is not more likely to result in resolution of irritative bladder symptoms.

Surgery for ulcerative colitis.

Ulcerative colitis is an inflammatory condition of unknown aetiology affecting all or part of the rectum and colon. The mainstay of treatment is medical but there are specific indications for surgical intervention. This article reviews the evolution of surgical management and in particular compares outcome from proctocolectomy and pouch surgery. A number of factors determining choice of procedure are examined, including elective or emergency presentation, patient selection, technical issues, morbidity and quality of life. Emphasis is made regarding a full explanation of these factors so that the patient is fully involved in the final decision regarding choice of procedure.

Pathophysiology and clinical aspects of urinary lithiasis.

Urine is a complex balanced solution containing dissociated and non-dissociated solutes. Any variation in urine saturation grade (number of crystals dissolved in a volume of urine), urinary pH and the concentration of crystallization inhibitors can break the normal existing balance and lead to urolithiasis. In the present article we analyze the principal mechanisms (absorptive, renal, resorptive) of hypercalciuria. It will be also shown how heredity directly influences the clinical aspects of cystine, xanthine and oxalate lithiasis and how diet, in association with metabolic disorders, interferes in uric acid and oxalate stone formation. Finally, we report on the roles of urinary tract malformations, urinary tract infections and drugs in the clinical characterization of urolithiasis.