Comparing Male and Female Resident Physicians in Central Venous Catheter Insertion Self-confidence and Competency: A Retrospective Cohort Study.

BACKGROUND: Female physicians often report lower self-confidence in their procedural and clinical competency compared to male physicians. There is limited data regarding self-reported confidence of female versus male trainees and any relation to objective competency in central venous catheter insertion. OBJECTIVE: To analyze differences between male and female trainees in self-confidence and skill-based outcomes in placing central venous catheters. DESIGN: Using data from a central venous catheter simulation training program at a large tertiary medical center, we performed linear regressions to analyze confidence difference pre- and post-training, number of restarts, and number of cannulation attempts while controlling for baseline demographic characteristics of the sample. PARTICIPANTS: PGY-1 physician residents in all residency specialties who insert central venous catheters in the clinical setting at a tertiary academic center with a sample size of 281 residents. MAIN MEASURES: Confidence difference pre- and post-training measured on a Likert scale 1-5, number of restarts (novel global assessment variable), and number of cannulation attempts during the competency evaluation. KEY RESULTS: Female trainees had both lower pre-program confidence (1.35 versus 1.74 out of 5, p < 0.001) and lower post-program confidence (3.77 versus 4.12 out of 5, p = 0.0021) as compared to male trainees. There was no statistically significant difference in number of restarts (95% CI - 0.073 to 0.368, p = 0.185) or cannulation attempts (95% CI - 0.039 to 0.342, p = 0.117) between sexes in linear regressions controlled for age, specialty designation, prior central venous catheter training, prior ultrasound guided vessel cannulation training, and pre-training confidence level. CONCLUSIONS: Female trainees rated their confidence significantly lower than their male counterparts both before and after the training program, despite no significant difference in skill-based outcomes. We discuss potential implications for trainees acquiring procedural skills during residency and for physician educators as they design training programs and delegate procedural opportunities.

Proposal for standardization of laparoscopic D3 lymphadenectomy for right colon cancer.

BACKGROUND: This study presents a laparoscopic surgical protocol for right hemicolectomy and D3 lymphadenectomy (R-D3L) in right colon cancer and reports the oncological outcomes based on a prospective series. METHODS: The study comprises two phases. In the first phase, a dynamic demonstration of the R-D3L surgical protocol is provided through textual explanation, illustrations, and edited surgical videos. The protocol emphasizes technical steps such as dissection of the embryological plane of the right mesocolon, high tie of ileocolic vessels, surgical trunk of Gillot dissection, and high tie of superior right colic vein (SRCV). In the second phase, a prospective observational study was conducted involving patients undergoing R-D3L surgery with this protocol between July 2015 and July 2021. Demographic, perioperative, and postoperative variables are analyzed, along with anatomopathological variables and oncological outcomes. RESULTS: A total of 33 patients were analyzed. Median operative time was 202 min. Perioperative bleeding occurred in 6%. Postoperative complications were mild (Clavien-Dindo III in 2%). Postoperative ileus was observed in 15%. No anastomotic dehiscence was reported. The median postoperative stay was 7 days. The median number of resected lymph nodes was 26, with 27% having positive nodes and 70% were classified as stage T3 or T4. After a median follow-up of 45 months, local recurrence, distant recurrence, and carcinomatosis rates were 0%. Mortality rate from other causes was 9%. CONCLUSION: The surgical protocol shown in the present study could help in the implementation of this technique in those units that consider it appropriate.

Menstrual hygiene management among adolescent girls in West Africa: A systematic review.

A systematic literature review was conducted to examine all recent academic, peer-reviewed studies of menstrual hygiene management (MHM) across adolescent girls in Anglophone West Africa. The objective was to assess the status of the scholarship surrounding the knowledge, attitudes, and practices of MHM across English-speaking West African countries and identify gaps in the literature for further research. The authors searched the epidemiological literatures indexed in PubMed and cross-referenced bibliographies for studies published between 2010-2022. Of 59 abstracts and articles screened, 35 met the final inclusion criteria. Despite differences in study design, setting, and data sources, the study results concurred on an average age of menarche between 12-15 years old among adolescent girls. The knowledge of MHM came from multiple sources, most commonly mothers, female siblings, and teachers and higher knowledge was associated with age, source, wealth, religion, and education level. Less than half of the adolescent girls knew about menstruation before menarche. Many studies showed that girls were shocked by their first period and fearful of staining. Menstruation was associated with dysmenorrhea, fear/embarrassment, and missing school. The existing studies suggest that more implementation and evaluation of menstrual hygiene management materials, education, and facilities are needed to address the educational, physical, and social disparities that exist among girls in West African countries.

Une revue systématique de la littérature a été menée pour examiner toutes les études universitaires récentes évaluées par des pairs sur la gestion de l'hygiène menstruelle (MHM) chez les adolescentes d'Afrique de l'Ouest anglophone. L'objectif était d'évaluer l'état de la recherche sur les connaissances, les attitudes et les pratiques de la GHM dans les pays anglophones d'Afrique de l'Ouest et d'identifier les lacunes dans la littérature pour des recherches plus approfondies. Les auteurs ont recherché dans la littérature épidémiologique indexée dans PubMed et des bibliographies croisées pour les études publiées entre 2010 et 2022. Sur les 59 résumés et articles examinés, 35 répondaient aux critères d'inclusion finaux. Malgré les différences dans la conception, le cadre et les sources de données de l'étude, les résultats de l'étude concordaient sur un âge moyen des premières règles entre 12 et 15 ans chez les adolescentes. La connaissance de la GHM provenait de sources multiples, le plus souvent des mères, des frères et sœurs et des enseignants, et les connaissances supérieures étaient associées à l'âge, à la source, à la richesse, à la religion et au niveau d'éducation. Moins de la moitié des adolescentes connaissaient leurs règles avant les premières règles. De nombreuses études ont montré que les filles étaient choquées par leurs premières règles et craignaient les taches. Les menstruations étaient associées à la dysménorrhée, à la peur/à la gêne et à l'absence à l'école. Les études existantes suggèrent qu'une plus grande mise en œuvre et une plus grande évaluation du matériel, de l'éducation et des installations de gestion de l'hygiène menstruelle sont nécessaires pour remédier aux disparités éducatives, physiques et sociales qui existent parmi les filles dans les pays d'Afrique de l'Ouest.

Surgical treatment trends and outcomes for anal fistula: fistulotomy is still accurate and safe. Results from a nationwide observational study.

PURPOSE: The aim of the present study was to analyse current surgical treatment preferences for anal fistula (AF) and its subtypes and nationwide results in terms of success and complications. METHODS: A retrospective multicentre observational cohort study was conducted. The study period was 1 year (2019), with a follow-up period of at least 1 year. A descriptive analysis of patient characteristics and trends regarding technical options was performed. Univariate and multivariate Cox regression models were used to analyse factors associated with healing and faecal incontinence (FI). RESULTS: Fifty-one hospitals were involved, providing data on 1628 patients with AF. At a median follow-up of 18.3 (9.9-28.3) months, 1231 (75.9%) patients achieved healing, while 390 (24.1%) did not; failure was catalogued as persistence in 279 (17.2.0%) patients and as recurrence in 111 (6.8%). On multivariate analysis, factors associated with healing were fistulotomy (OR 5.5; 95% CI 3.8-7.9; p < 0.001), simple fistula (OR 2.1; 95% CI 1.5-2.8; p < 0.001), single tract (HR 1.9; 95% CI 1.3-2.8; p < 0.001) and number of preparatory surgeries (none vs. 3; HR 1.8; 95% CI 1.2-2.8; p = 0.006). Regarding de novo FI, in the multivariate analysis previous anal surgery (OR 1.5, 95% CI 1.0-2.4, p = 0.037), age (OR 1.02, 95% CI 1.00-1.04, p = 0.002) and being female (OR 1.7, 95% CI 1.1-2.5, p = 0.008) were statistically related. CONCLUSIONS: Anal fistulotomy is the most used procedure for AF, especially for simple AF, with a favourable overall balance between healing and continence impairment. Sphincter-sparing or minimally invasive sphincter-sparing techniques resulted in lower rates of healing. In spite of their intended sphincter-sparing design, a certain degree of FI was observed for several of these techniques.

Capsular release following total shoulder arthroplasty: an analysis of early outcomes.

BACKGROUND: The purpose of this study is to analyze the outcomes of open and arthroscopic capsular release following total shoulder arthroplasty. METHODS: Over 15 years, 19 patients experienced persistent shoulder stiffness after anatomic total shoulder arthroplasty refractory to nonoperative treatment, requiring either open (n = 5) or arthroscopic (n = 14) capsular release. There were seven (39%) patients who had a prior diagnosis of stiffness before the primary arthroplasty. RESULTS: At a follow-up of 2.3 years (1-5.5), there were changes in range of motion, including forward flexion (77°-117°), abduction (49°-98°), external rotation (9°-19°), internal rotation at 0° (Sacrum to L1), and pain (4.1-2.3) scores (p < 0.01). There were seven (37%) patients that required a reoperation following the initial capsular release. The survival-free of reoperation at 2 and 5 years was 76% and 53%, respectively, while the survival-free of revision surgery at 2 and 5 years was 83%. Furthermore, three (16%) patients required a repeat capsular release. Overall, there were 11 (58%) complications, including stiffness (n = 9), infection (n = 1), subscapularis rupture (n = 2), glenoid loosening (n = 3), and pain with weakness requiring reoperation (n = 1). CONCLUSIONS: Shoulder stiffness after total shoulder arthroplasty is a very difficult pathology to treat, with high rates of complications and reoperations after capsular release. Overall, in patients that do not develop glenoid loosening, capsular release does improve the patient's pain and shoulder motion. Furthermore, when patients develop stiffness, it is critical to rule out other etiologies, such as glenoid loosening, prior to proceeding with capsular release. LEVEL OF EVIDENCE IV: Retrospective case series.

Biological mesh reconstruction versus primary closure for preventing perineal morbidity after extralevator abdominoperineal excision: a multicentre retrospective study.

AIM: The aim of the study was to compare the incidence of perineal hernia and the perineal wound morbidity following extralevator abdominoperineal excision (ELAPE) between two groups - primary perineal closure and reconstruction with a biological mesh. METHOD: One hundred and forty-seven consecutive patients who underwent ELAPE for primary rectal cancer between January 2007 and December 2018 in two tertiary referral centres were retrospectively identified from prospective databases. Perineal closure was carried out via primary closure or with a biological mesh (porcine dermal collagen mesh). Outcome measures were perineal hernia and perineal wound morbidity (infection, dehiscence, persistent sinus and chronic pain). RESULTS: A total of 139 patients were included in the study. A prophylactic mesh was used in 80 (57.5%) and primary closure was practised in 59 (42.4%) patients. The median follow-up was 30 (interquartile range 46.88) months. Thirty patients (21.6%) developed perineal hernia. No significant differences were found between prophylactic mesh and primary closure (16.3% vs 23.3%, P = 0.07). The median period between surgery and hernia diagnosis was 8 months in the primary closure group and 24 months in the mesh group (P < 0.01). Perineal wound morbidity was significantly higher in the prophylactic mesh group (55% vs 33.9%, P < 0.01). CONCLUSION: In our study, the use of a biological mesh did not reduce the rate of perineal hernia, although it did delay its appearance. Perineal closure using a biological mesh may increase perineal morbidity, both acute and chronic.

Determinants of the current and future distribution of the West Nile virus mosquito vector Culex pipiens in Spain.

Changes in environmental conditions, whether related or not to human activities, are continuously modifying the geographic distribution of vectors, which in turn affects the dynamics and distribution of vector-borne infectious diseases. Determining the main ecological drivers of vector distribution and how predicted changes in these drivers may alter their future distributions is therefore of major importance. However, the drivers of vector populations are largely specific to each vector species and region. Here, we identify the most important human-activity-related and bioclimatic predictors affecting the current distribution and habitat suitability of the mosquito Culex pipiens and potential future changes in its distribution in Spain. We determined the niche of occurrence (NOO) of the species, which considers only those areas lying within the range of suitable environmental conditions using presence data. Although almost ubiquitous, the distribution of Cx. pipiens is mostly explained by elevation and the degree of urbanization but also, to a lesser extent, by mean temperatures during the wettest season and temperature seasonality. The combination of these predictors highlights the existence of a heterogeneous pattern of habitat suitability, with most suitable areas located in the southern and northeastern coastal areas of Spain, and unsuitable areas located at higher altitude and in colder regions. Future climatic predictions indicate a net decrease in distribution of up to 29.55%, probably due to warming and greater temperature oscillations. Despite these predicted changes in vector distribution, their effects on the incidence of infectious diseases are, however, difficult to forecast since different processes such as local adaptation to temperature, vector-pathogen interactions, and human-derived changes in landscape may play important roles in shaping the future dynamics of pathogen transmission.

Design of Semirigid Wearable Devices Based on Skin Strain Analysis.

Nowadays, both usability and comfort play a key role in the development of medical and wearable products. When designing any device that is in contact with the human body, the mechanical behavior of the embraced soft tissue must be known. The unavoidable displacement of the soft tissue during motion may lead to discomfort and, thus, the removal of the wearable product. This paper presents a new methodology to design and test a wearable device based on the measurement of the dynamic skin strain field. Furthermore, from this field, the anatomical lines with minimum strain (lines of nonextension (LoNEs)) are calculated to design the structural parts of the wearable device. With this new criterion, the resulting product is not only optimized to reduce the friction in skin-device interface, but fully personalized to the patient's morphology and motion. The methodology is applied to the design of an ankle-foot wearable orthosis for subjects with ankle dorsiflexors muscles weakness due to nervous system disorders. The results confirm that the use of LoNEs may benefit the design of products with a high interaction with the skin.

The impact of the reverse prosthesis on revision shoulder arthroplasty: analysis of a high-volume shoulder practice.

BACKGROUND: Since the approval of reverse shoulder arthroplasty (RSA) in 2004, the use of shoulder arthroplasty increased dramatically. Although the success of RSA in the revision setting has been demonstrated, there remains a paucity of studies examining the epidemiology of RSA in revision arthroplasty. This study describes trends of revision arthroplasty during the "era of the reverse," from 2005 through 2016. METHODS: In a multicenter retrospective analysis, we analyzed 274 revision shoulder arthroplasties converted to a RSA (n = 182), anatomic total shoulder arthroplasty (TSA, n = 68), or hemiarthroplasty (n = 24) from 2005 to 2016. Demographics, surgical indications, and types of prosthesis were analyzed. RESULTS: The number of revision arthroplasties increased over 12 years. From 2005 to 2010, TSA (33%) or hemiarthroplasty (16%) were used in similar rates as RSA (51%). From 2011 to 2016, there was a much higher incidence of revision arthroplasty with RSA (78%) compared with TSA (19%) or hemiarthroplasty (3%). Specifically, the number of RSAs increased in 2011 to 2016 compared with 2005 to 2010 in patients aged younger than 60 years, obese patients, patients with indications of glenoid loosening, and those with a diagnosis of diabetes mellitus or rheumatoid arthritis. CONCLUSIONS: The use of RSA for revision arthroplasty increased over the "era of the reverse" and became the majority by 2016. The reverse prosthesis has had expanding indications regarding both patient demographics and pathology. This study demonstrates the reverse prosthesis has had a similar and even more profound effect on revision shoulder arthroplasty than what has previously been well documented in the primary setting.

Examining school-based hygiene facilities: a quantitative assessment in a Ghanaian municipality.

BACKGROUND: The crucial role of adequate water, sanitation and hygiene (WASH) facilities in influencing children's handwashing behaviour is widely reported. Report from UNICEF indicates a dearth of adequate data on WASH facilities in schools, especially in the developing world. This study sought to contribute to building the evidence-base on school hygiene facilities in Ghana. The study further explored for possible associations and differences between key variables within the context of school water, sanitation and hygiene. METHODS: Data was collected from 37 junior high schools using an observational checklist. Methods of data analysis included a Scalogram model, Fisher's exact test, and a Student's t-test. RESULTS: Results of the study showed a facility deficiency in many schools: 33% of schools had students washing their hands in a shared receptacle (bowl), 24% had students using a single cotton towel to dry hands after handwashing, and only 16% of schools had a functional water facility. Furthermore, results of a proportion test indicated that 83% of schools which had functional water facilities also had functional handwashing stations. On the other hand, only 3% of schools which had functional water facilities also had a functional handwashing stations. A test of difference in the proportions of the two sets of schools showed a statistically significant difference (p < 0.001). In addition, 40% of schools which had financial provisions for water supply also had functional handwashing stations. On the other hand, only 7% of schools which had financial provisions for water supply also had functional handwashing stations. There was a statistically significant difference in the proportions of the two sets of schools (p = 0.02). CONCLUSION: We conclude that it is essential to have a financial provision for water supply in schools as this can potentially influence the existence of a handwashing station in a school. An intervention by government, educational authorities and civil society organisations towards enabling schools in low resource areas to have a sustainable budgetary allocation for WASH facilities would be timely.

The cost-effectiveness of the arthroscopic Bankart versus open Latarjet in the treatment of primary shoulder instability.

BACKGROUND: The purpose of this study was to conduct a cost-effectiveness analysis of the arthroscopic Bankart and the open Latarjet in the treatment of primary shoulder instability. METHODS: This cost-effectiveness study used a Markov decision chain and Monte-Carlo simulation. Existing literature was reviewed to determine the survivorship and complication rates of these procedures. Health utility states (EQ-5D and quality-adjusted life-years) of the Bankart and Latarjet were prospectively collected. Using these variables, the Monte-Carlo simulation was modeled 100,000 times. RESULTS: In reviewing the literature, the overall recurrence rate is 14% after the arthroscopic Bankart and 8% after the open Latarjet. Postoperative health utility states were equal between the 2 procedures (mean EQ-5D, 0.930; P = .775). The Monte-Carlo simulation showed that the Bankart had an incremental cost-effectiveness ratio of $4214 and the Latarjet had an incremental cost-effectiveness ratio of $4681 (P < .001). CONCLUSION: Both the arthroscopic Bankart and open Latarjet are highly cost-effective; however, the Bankart is more cost-effective than the Latarjet, primarily because of a lower health utility state after a failed Latarjet. Ultimately, the clinical scenario may favor Latarjet (ie, critical glenoid bone loss) in certain circumstances, and decisions should be made on a case by case basis.

Importance of the Moskowitz artery in the laparoscopic medial approach to splenic flexure mobilization: a cadaveric study.

BACKGROUND: The medial approach in laparoscopic splenic flexure mobilization is based on the entrance to the lesser sac just above the ventral edge of the pancreas (VEOP). The artery of Moskowitz runs through the base of the mesocolon, just above the VEOP. The aim of this study was to assess the incidence of the artery of Moskowitz, its route and its distance from the VEOP. METHODS: We performed a cadaveric study on 27 human cadavers. The vascular arcades of the splenic flexure were dissected, the number of vascular arches, and the origin and localization of its terminal anastomosis were recorded. The splenic flexure avascular space (SFAS) was defined as the avascular zone in the mesocolon delimited by the VEOP, middle colic artery, ascending branch of the left colic artery and the vascular arch of the splenic flexure nearest to the VEOP and was quantified as the distance between the VEOP and the most proximal arch RESULTS: The artery of Drummond was identified in 100% of the cadavers. In 5 of 27 (18%) Riolan's arch was present, and in 3 of 27 (11%) the Moskowitz artery was found. The mean distance from the VEOP to the artery of Moskowitz was 0.3 cm (SD 0.04). This vascular arch travelled from the origin of the middle colic artery to the distal third of the ascending branch of the left colic artery. The SFAS was greater (p = 0.001) in cadavers that only presented the artery of Drummond (mean 6.8 cm; SD 1.25) than in those with Riolan's arch (mean 4.5 cm; SD 0.5) CONCLUSIONS: In the medial approach for laparoscopic mobilization of the splenic flexure, when only one of the arches is present, the avascular area is an extensive and secure territory. If the artery of Moskowitz is present, the area is nonexistent and this would contraindicate the approach due to risk of iatrogenic bleeding. A radiological preoperatory study could be essential for accurate and safe surgery in this area.

Consumption of Fish Oil Providing Amounts of Eicosapentaenoic Acid and Docosahexaenoic Acid That Can Be Obtained from the Diet Reduces Blood Pressure in Adults with Systolic Hypertension: A Retrospective Analysis.

BACKGROUND: Although many randomized controlled trials (RCTs) have examined the effects of the n-3 (ω-3) fatty acids eicosapentaenoic acid (EPA; 20:5n-3) and docosahexaenoic acid (DHA; 22:6n-3) on blood pressure (BP) and vascular function, the majority have used doses of EPA+DHA of >3 g/d, which are unlikely to be achieved by dietary manipulation. OBJECTIVE: The objective was to examine, by using a retrospective analysis from a multicenter RCT, the impact of recommended EPA+DHA intakes achievable through diet on systolic and diastolic BPs and microvascular function in adults in the United Kingdom. METHODS: In a double-blind, placebo-controlled RCT, healthy men and women (n = 312) consumed a control oil or fish oil (FO) providing 0.7 or 1.8 g EPA+DHA/d, in random order, each for 8 wk. Fasting BP and microvascular function (using laser Doppler iontophoresis) were assessed and plasma collected for the quantification of markers of vascular function. Participants were retrospectively genotyped for the endothelial nitric oxide synthase (eNOS) rs1799983 variant. RESULTS: No effects of n-3 fatty acid treatment or any treatment × eNOS genotype interactions were evident in the group as a whole for any of the clinical or biochemical outcomes. Assessment of response according to hypertension status at baseline indicated a significant (P = 0.046) FO-induced reduction (mean: 5 mm Hg) in systolic BP, specifically in those with isolated systolic hypertension (n = 31). No dose response was observed. CONCLUSIONS: These findings indicate that in adults with isolated systolic hypertension, daily doses of EPA+DHA as low as 0.7 g show clinically meaningful BP reductions, which, at a population level, could be associated with lower cardiovascular disease risk. Confirmation of findings in an RCT in which participants are prospectively recruited on the basis of BP status is required to draw definite conclusions.

Does high-density lipoprotein protect vascular function in healthy pregnancy?

The maternal adaptation to pregnancy includes hyperlipidaemia, oxidative stress and chronic inflammation. In non-pregnant individuals, these processes are usually associated with poor vascular function. However, maternal vascular function is enhanced in pregnancy. It is not understood how this is achieved in the face of the adverse metabolic and inflammatory environment. Research into cardiovascular disease demonstrates that plasma HDL (high-density lipoprotein), by merit of its functionality rather than its plasma concentration, exerts protective effects on the vascular endothelium. HDL has vasodilatory, antioxidant, anti-thrombotic and anti-inflammatory effects, and can protect against endothelial cell damage. In pregnancy, the plasma HDL concentration starts to rise at 10 weeks of gestation, peaking at 20 weeks. The initial rise in plasma HDL occurs around the time of the establishment of the feto-placental circulation, a time when the trophoblast plugs in the maternal spiral arteries are released, generating oxidative stress. Thus there is the intriguing possibility that new HDL of improved function is synthesized around the time of the establishment of the feto-placental circulation. In obese pregnancy and, to a greater extent, in pre-eclampsia, plasma HDL levels are significantly decreased and maternal vascular function is reduced. Wire myography studies have shown an association between the plasma content of apolipoprotein AI, the major protein constituent of HDL, and blood vessel relaxation. These observations lead us to hypothesize that HDL concentration, and function, increases in pregnancy in order to protect the maternal vascular endothelium and that in pre-eclampsia this fails to occur.

Context-dependent effects of yolk androgens on nestling growth and immune function in a multibrooded passerine.

Female birds may adjust their offspring phenotype to the specific requirements of the environment by differential allocation of physiologically active substances into yolks, such as androgens. Yolk androgens have been shown to accelerate embryonic development, growth rate and competitive ability of nestlings, but they can also entail immunological costs. The balance between costs and benefits of androgen allocation is expected to depend on nestling environment. We tested this hypothesis in a multibrooded passerine, the spotless starling, Sturnus unicolor. We experimentally manipulated yolk androgen levels using a between-brood design and evaluated its effects on nestling development, survival and immune function. Both in first and replacement broods, the embryonic development period was shorter for androgen-treated chicks than controls, but there were no differences in second broods. In replacement broods, androgen-treated chicks were heavier and larger than those hatched from control eggs, but this effect was not observed in the other breeding attempts. Androgen exposure reduced survival with respect to controls only in second broods. Regarding immune function, we detected nonsignificant trends for androgen treatment to activate two important components of innate and adaptive immunity (IL-6 and Ig-A levels, respectively). Similarly, androgen-treated chicks showed greater lymphocyte proliferation than controls in the first brood and an opposite trend in the second brood. Our results indicate that yolk androgen effects on nestling development and immunity depend on the environmental conditions of each breeding attempt. Variation in maternal androgen allocation to eggs could be explained as the result of context-dependent optimal strategies to maximize offspring fitness.

Epigenetic mechanism causes Wnt9b deficiency and nonsyndromic cleft lip and palate in the A/WySn mouse strain.

BACKGROUND: The heritable multifactorial etiology of human nonsyndromic cleft lip with or without cleft palate (CL ± P) is not understood. CL ± P occurs in 15% of neonates in the homozygous A/WySn mouse strain, with a multifactorial genetic etiology, the clf1 and clf2 variant genes. Clf1 acts as a mutant allele of Wnt9b but its coding sequence is normal. An IAP (intracisternal A particle) retrotransposon inserted near the Wnt9b gene is associated with clf1. METHODS: Transcription of noncoding sequence between the IAP and the Wnt9b gene was examined in A/WySn embryos. The levels of Wnt9b transcript and of an "IAP antisense" transcript initiated in the IAP and extending into the noncoding interval were assayed in A/WySn and C57BL/6J whole embryos or heads across embryonic days 8 to 12. Methylation of the 5' LTR of the IAP was examined in E12 A/WySn embryo heads. RESULTS: Mean Wnt9b transcript levels were lower in A/WySn than in C57BL/6J at all ages examined and lower in CL ± P embryos than in their normal littermates. The "IAP antisense" transcript was found in all A/WySn embryos and was highest in CL ± P embryos. The IAP at Wnt9b was generally unmethylated in CL ± P embryos and approximately 50% methylated in normal littermates. CONCLUSION: The clf1 mutation in A/WySn is a "metastable epiallele", in which stochastic deficiency in some individuals of DNA methylation of a retrotransposon uniquely inserted near the Wnt9b gene allows transcriptional activity of the retrotransposon and interference with transcription from Wnt9b. Methylation of metastable epialleles should be investigated in human nonsyndromic CL ± P.

Improved outcomes using brain SPECT-guided treatment versus treatment-as-usual in community psychiatric outpatients: a retrospective case-control study.

Brain single-photon emission computed tomography (SPECT) scans indirectly show functional activity via measurement of regional cerebral blood flow. Thirty patients at a community-based psychiatric clinic underwent brain SPECT scans. Changes in scoring of before-treatment and after-treatment scans correlated well with changes in patient Global Assessment of Functioning (GAF) scores before treatment and after treatment. Patients were retrospectively matched with controls with similar diagnoses and pretreatment GAF scores, and those who underwent SPECT-guided treatment improved significantly more than the control patients.

Conventional SPECT Versus 3D Thresholded SPECT Imaging in the Diagnosis of ADHD: A Retrospective Study.

Brain single photon emission CT (SPECT) scans indirectly show functional activity via measurement of regional cerebral blood flow. In conventional SPECT scans, the typical tomographic slices are produced. In three-dimensional thresholded SPECT scans, pixels representing activity below a certain threshold are discarded. A retrospective analysis of 427 patients shows that three-dimensional thresholded SPECT scans yield a sensitivity for predicting clinical attention deficit hyperactivity disorder of 54% [95% confidence interval (CI), 46%-61%; specificity, 76%; 95% CI, 71%-81%] compared with 4% sensitivity [95% CI, 2%-8%; specificity, 97%; 95% CI, 94%-98%] for conventional SPECT scans. For 170 of the patients originating from a general psychiatry practice, conventional SPECT showed 10% sensitivity (95% CI, 4%-23%) and 98% specificity (95% CI, 93%-99%), whereas three-dimensional thresholded SPECT showed 83% sensitivity (95% CI, 68%-91%) and 77% specificity (95% CI, 69%-83%). These findings indicate that a much stronger signal is obtained when the three-dimensional thresholded SPECT scan is performed rather than the conventional SPECT scan in detecting attention deficit hyperactivity disorder and suggest similar results may be obtained for other psychiatric disorders.