Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.

Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a "molar tooth sign" of the midbrain and a "batwing sign" of the fourth ventricle along with large retroorbital cysts bilaterally. The diagnosis of autosomal recessive Joubert syndrome type 6 due to homozygous pathogenic variant c.725A > G p. (Asn242Ser) in TMEM67 gene was confirmed by whole exome sequencing. Left eye had nystagmus and the left optic nerve and retina showed epipapillary and subretinal fibrosis, respectively. Scleral buckle was performed for left non-rhegmatogenous retinal detachment which then improved and has been stable. Conclusions and Importance: We present a rare case of JS with some unique ophthalmic features which expand clinical knowledge on this complex systemic and ocular entity.

A bibliographic review of sustainability research output and investment in 10 leading public health journals across three time periods.

Objectives: Long-term delivery, or sustainability, of evidence-based interventions is necessary for public health benefits to be realised. However, sustainment of effective interventions is poor. Understanding the evidence-base and identifying potential gaps is necessary to inform where future research efforts are most warranted. Study design: We undertook a repeat cross-sectional bibliographic review of research published in 10 public health journals across three time periods (2010, 2015 and 2020/2021). Methods: Studies were eligible if they were a data-based study or review article. Studies were assessed as to whether they focused on sustainability. The percentage of public health research studies assessing sustainability overall and by the three time periods was calculated. The association between time period and the proportion of sustainability articles was assessed using logistic regression. Descriptive statistics were used to summarise study characteristics overall and by time period. Results: 10,588 data-based articles were identified, of which 1.3 % (n = 136) focused on sustainability. There was a statistically significant association between time period and the proportion of sustainability research, with a slight increase across the three time periods: 0.3 % (95 % CI: 0.1 %, 0.7 %) in 2010, 1.4 % (95 % CI: 1.0 %, 1.9 %) in 2015 and 1.6 % (95 % CI: 1.3 %, 1.9 %) in 2020/2021. Most research was descriptive/epidemiological (n = 69, 51 %), few focused on measurement (n = 2, 1.5 %) and none on cost effectiveness. Only one intervention study assessed the effect of specific sustainability strategies. Conclusions: This bibliographic review highlights the need for more public health research on sustainability, particularly in the areas of measurement, sustainability interventions, and cost effectiveness.

A cluster randomised controlled trial to assess the effectiveness of a multi-strategy sustainability intervention on teachers' sustained implementation of classroom physical activity breaks (energisers): study protocol.

BACKGROUND: Governments internationally have invested hugely in the implementation and scale-up of school-based physical activity interventions, but have little evidence of how to best sustain these interventions once active implementation support ceases. This study will assess the effectiveness of a multi-strategy sustainability intervention on classroom teachers' sustainment of energisers (short 3-5 min physical activity breaks during class-time) scheduled across the school day from baseline to 12 and 24-month follow-up. METHODS: A cluster randomised controlled trial will be conducted in 50 primary schools within the Hunter New England, Illawarra Shoalhaven, Murrumbidgee and Northern New South Wales (NSW) Local Health Districts of NSW Australia. Schools will be randomly allocated to receive either usual support or the multi-strategy sustainability intervention that includes: centralised technical assistance from a trained project officer; formal commitment and mandated change obtained from school principals; training in-school champions; reminders for teachers; educational materials provided to teachers; capturing and sharing local knowledge; and engagement of parents, carers and the wider school community. The primary trial outcome will be measured via a teacher logbook to determine the between-group difference in the change in mean minutes of energisers scheduled across the school day at 12 and 24-month follow-up compared to baseline. Analyses will be performed using an intention to treat framework. Linear mixed models will be used to assess intervention effects on the primary outcome at both follow-up periods. DISCUSSION: This study will be one of the first randomised controlled trials to examine the impact of a multi-strategy sustainability intervention to support schools' sustainment of a physical activity intervention. The proposed research will generate new evidence needed for the partnering organisations to protect their considerable investments to date in physical activity promotion in this setting and will provide seminal evidence for the field globally. TRIAL REGISTRATION: ACTRN12620000372987 version 1 registered 17th March 2020. Version 3 (current version) updated 4th August 2023.

Cryoablation of Bone Metastases from Renal Cell Carcinoma for Local Tumor Control.

BACKGROUND: Patients with bone metastases from renal cell carcinoma often are not surgical candidates and have a poor prognosis. There are limited data on the use of cryoablation as a locoregional therapy for bone metastases. Our objective was to assess the local tumor-control rate following cryoablation of bone metastases in the setting of renal cell carcinoma. METHODS: We retrospectively reviewed the medical records of patients with metastatic renal cell carcinoma who underwent cryoablation for bone metastases between 2007 and 2014. We excluded patients if the intent of treatment was for pain palliation only, if cryoablation was performed without an attempt for complete tumor control (cytoreduction), or if the patient had no further follow-up beyond the cryoablation procedure. We recorded patient demographics, procedural variables, and complications. Cross-sectional imaging and clinical follow-up were reviewed to determine disease recurrence. The median overall survival and recurrence-free survival were determined using the Kaplan-Meier method. RESULTS: Forty patients (30 male and 10 female) with 50 bone metastases were included for analysis. The mean patient age was 62 years (range, 47 to 82 years). The median follow-up was 35 months (95% confidence interval [CI], 22.7 to 74.4 months). Twenty-five (62.5%) of the 40 patients had oligometastatic disease, defined as ≤5 metastases at the time of ablation. The mean tumor size was 3.4 ± 1.5 cm. Metastases in the pelvic region represented 68% of the treated tumors (34 of 50). The overall local tumor-control rate per lesion was 82% (41 of 50). Patients with oligometastatic disease experienced better local tumor control (96% [24 of 25]) compared with patients who had >5 metastases (53.3% [8 of 15]) (p = 0.001). The local tumor-control rate was better for lesions for which a larger mean difference between maximum ice-ball diameter and maximum lesion diameter was achieved (2.2 ± 0.9 cm for those without recurrence versus 1.35 ± 1.2 cm for those with recurrence; p = 0.005). There were 3 grade-3 complications and 1 grade-4 complication. CONCLUSIONS: Cryoablation can be effective for achieving local oncologic control in bone metastases from renal cell carcinoma and may represent a valuable alternative to surgical metastasectomy in select patients. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

CT abdominal imaging findings in patients with sickle cell disease: acute vaso-occlusive crisis, complications, and chronic sequelae.

Sickle cell disease (SCD) is the most prevalent hemoglobinopathy. Survival in patients with SCD has improved over the past few decades. These patients experience a lifetime of repeated acute pain crises, which are thought to result from sickling and microvascular occlusions; acute abdominal pain is common. Moreover, repeated crises often lead to organ dysfunction, such as asplenia, hepatic failure, and renal failure. The spleen, liver, biliary system, kidneys, and gastrointestinal tract can all be affected. Patients may undergo CT to further direct clinical management. We review the spectrum of CT imaging findings of abdominal manifestations in patients with SCD, from the acute microvascular occlusive pain crisis to the potential complications and chronic sequelae.

Acute gastrointestinal vaso-occlusive ischemia in sickle cell disease: CT imaging features and clinical outcome.

PURPOSE: The purpose of this study was to determine the incidence, specific imaging features, and outcome of gastrointestinal vaso-occlusive ischemia (GVOI) in sickle cell patients undergoing CT for acute abdominal pain. METHODS: This HIPAA-compliant, IRB-approved retrospective study evaluated sickle cell patients with an abdominal pain crisis and acute gastrointestinal abnormalities on CT from 1/2006 to 1/2014. CT findings were divided into those compatible and incompatible with bowel ischemia or clinical diagnosis of GVOI. Two abdominal radiologists (1, 13 years' experience) reviewed the CTs for specific imaging features of ischemia. Clinical laboratory values (lactate, WBC) and outcome were recorded. Descriptive statistics and Wilcoxon-Mann-Whitney two-sample rank-sum test were performed. RESULTS: Of 217 CTs, 33 had acute gastrointestinal abnormalities: 75% (25/33) consistent with ischemia and clinical GVOI. Complications of ischemia occurred in 16% (4/25): ileus (50%), perforation (25%), and pneumatosis (25%). In uncomplicated cases, all had bowel wall thickening: segmental 52% (11/21) or diffuse 48% (10/21). The colon was commonly involved (76%, 16/21), particularly the ascending (57%, 12/21). Most abnormalities (52%, 11/21) were in the superior mesenteric artery distribution. Average lactate (4.3 ± 4.0 mmol/L, p = 0.02) and WBC count (20.1 ± 10.4, ×1000 cells/µL, p = 0.01) were significantly higher in GVOI. Overall mortality in patients with GVOI was 17% (3/18). CONCLUSION: GVOI is an important feature of the acute abdominal crisis in patients with sickle cell disease and can be seen in up to 75% of patients with abnormal bowel findings on CT. The diagnosis should be strongly considered in sickle cell patients with CT findings of diffuse or segmental bowel wall thickening, particularly involving the colon.

Diagnostic performance of imaging criteria for distinguishing autoimmune cholangiopathy from primary sclerosing cholangitis and bile duct malignancy.

OBJECTIVE: To determine the diagnostic performance of imaging criteria for distinguishing Ig-G4-associated autoimmune cholangiopathy (IAC) from primary sclerosing cholangitis (PSC) and bile duct malignancy. METHODS: A medical records search between January 2008 and October 2013 identified 10 patients (8 M, 2 F, mean age 61 years, range 34-82) with a clinical diagnosis of IAC. Fifteen cases of PSC (6 M, 9 F, mean age 50, range 22-65) and 15 cases of biliary malignancy (7 M, 8 F, mean age 65, range 48-84) were randomly selected for comparative analysis. Three abdominal radiologists independently reviewed MRI with MRCP (n = 32) or CT (n = 8) and ERCP (n = 8) for the following IAC imaging predictors: single-wall bile duct thickness >2.5 mm, continuous biliary involvement, gallbladder involvement, liver disease, peribiliary mass, or pancreatic and renal abnormalities. Each radiologist provided an imaging-based diagnosis (IAC, PSC, or cancer). Imaging predictor sensitivity, specificity, accuracy, and association with IAC using Fisher's exact test. Inter-reader agreement determined using Fleiss' kappa statistics. RESULTS: For diagnosis of IAC, sensitivities and specificities were high (70-93%). Pancreatic abnormality was strongest predictor for distinguishing IAC from PSC and cancer, with high diagnostic performance (70-80% sensitivity, 87-97% specificity), significant association (p < 0.01), and moderate inter-reader agreement (κ = 0.59). Continuous biliary involvement was moderately predictive (50-100% sensitivity, 53-83% specificity) and trended toward significant association in distinguishing from PSC (p = 0.01-0.19), but less from cancer (p = 0.06-0.62). CONCLUSION: It remains difficult to distinguish IAC from PSC or bile duct malignancy based on imaging features alone. The presence of pancreatic abnormalities, including peripancreatic rind, atrophy, abnormal enhancement, or T2 signal intensity, strongly favors a diagnosis of IAC.

Magnetic Resonance Imaging in the Diagnosis, Staging, and Surveillance of Cervical Carcinoma.

Cervical carcinoma remains a common gynecologic malignancy. Magnetic resonance imaging is a useful and accurate tool in the diagnosis, staging, and follow-up of cervical carcinoma. This article describes the optimal techniques for magnetic resonance evaluation of the cervix, illustrates the role of magnetic resonance imaging in patients with known or indicated cervical carcinoma, and describes key aspects of staging and management of cervical carcinoma.

Magnetic Resonance Imaging of Benign and Malignant Uterine Neoplasms.

Benign and malignant uterine masses can be seen in the women. Some of these are asymptomatic and incidentally discovered, whereas others can be symptomatic. With the soft tissue contrast resolution magnetic resonance imaging can render a definitive diagnosis, which can further help streamline patient management. In this article we show magnetic resonance imaging examples of benign and malignant masses of the uterus and their treatment strategies.

Origin, Incidence, and Management of Nongynecologic Pelvic Masses Seen on Cross-sectional Imaging.

OBJECTIVE: To characterize the origin of nongynecologic pelvic masses. STUDY DESIGN: Using a radiology database, women who underwent transvaginal ultrasound, CT scan, or MRI for the indication of pelvic mass or pelvic fullness were identified. Demographic information, radiologic data, and outcomes were reviewed. RESULTS: A total of 450 women underwent imaging for the above indications been 2002 and 2012. Of those women, 347 had at least 1 pelvic mass; 3 women had both gynecologic and nongynecologic masses, and 13 women had 2 gynecologic masses. Forty women (12%) had nongynecologic pathology. Of the nongynecologic masses 13 were gastrointestinal in origin, 9 were urologic, and 9 were neuromuscular. Other etiologies included metastatic cancers, iatrogenic masses, and hematologic masses. Seventy-four women had malignant pathology (21%): 17/40 (43%) of nongynecologic pelvic masses and 57/320 (18%) of gynecologic masses (p < 0.05). CONCLUSION: Compared to pelvic masses of gynecologic origin, nongynecologic pelvic masses are more likely to be malignant.

Impact of CT in elderly patients presenting to the emergency department with acute abdominal pain.

PURPOSE: The purpose of the study was to document the clinical impact of CT in elderly patients presenting to the emergency department (ED) with abdominal pain. METHODS: This retrospective IRB-approved study from 2006 to 2013 evaluated 464 patients ≥80 years (mean 89 years, range 80-100: M150, W314), who presented to the ED with acute abdominal symptoms and underwent CT. CTs were divided into those negative and positive for actionable findings, defined as potentially requiring a change in surgical or medical management. Physician diagnosis, treatment plan, and disposition before and after CT were reviewed in the electronic medical record to assess CT influence on management and disposition. CT diagnosis was confirmed with final clinical diagnosis, surgical intervention, pathology, and follow-up. Descriptive statistics were used. RESULTS: CTs were positive in 55%. The most common diagnoses were SBO (18%), diverticulitis (9%), non-ischemic vascular-related emergency (6%), bowel ischemia (4%), appendicitis (3%), and colonic obstruction (2%). These diagnoses were clinically unsuspected prior to CT in 43% (p < 0.05), with significant difficultly in diagnosing SBO (p < 0.05), diverticulitis (p < 0.01), and colonic obstruction (p < 0.01). Positive CT results influenced treatment plans in 65%, surgical in 48%, and medical in 52%. Disposition from the ED was significantly affected by CT (p < 0.001), 65% of admissions with positive CT (p < 0.001) and 63% of discharges with negative CT (p < 0.001). CONCLUSION: Utilization of abdominopelvic CT in geriatric patients presenting to the ED with acute abdominal symptoms strongly influences clinical management and significantly affects disposition. As the US population ages, the clinical impact of emergent CT in the elderly will intensify.

CT of Gastrointestinal Vasoocclusive Crisis Complicating Sickle Cell Disease.

OBJECTIVE: The purposes of this article are to illustrate the CT appearance of gastrointestinal vasoocclusive crisis in patients with sickle cell disease (SCD), highlight potential complications, and review other conditions that may have similar findings. CONCLUSION: The gastrointestinal vasoocclusive crisis in SCD is rare but can result in potentially life-threatening ischemia and death. Knowledge of the spectrum of CT features of the gastrointestinal vasoocclusive crisis is important in making the diagnosis and potentially preventing complications.

Image-guided percutaneous drainage vs. surgical repair of gastrointestinal anastomotic leaks: is there a difference in hospital course or hospitalization cost?

PURPOSE: To identify differences in hospital course and hospitalization cost when comparing image-guided percutaneous drainage with surgical repair for gastrointestinal anastomotic leaks. MATERIALS AND METHODS: A retrospective IRB-approved search using key words "leak" and/or "anastomotic" was performed on all adult CT reports from 2002 to 2011. CT examinations were reviewed for evidence of a postoperative gastrointestinal leak and assigned a confidence score of 1-5 (1 = no leak, 5 = definite leak). Patients with an average confidence score <4 were excluded. Type of surgery, patient data, method of leak management, number of hospital admissions, length of hospital stay, discharge disposition, number of CT examinations, number of drains, and hospitalization costs were collected. RESULTS: One hundred thirty-nine patients had radiographic evidence of a gastrointestinal anastomotic leak (esophageal, gastric, small bowel or colonic). Nine patients were excluded due to low confidence scores. Twenty-seven patients underwent surgical repair (Group A) and 103 were managed entirely with percutaneous image-guided drainage (Group B). There was no significant difference in patient demographics or number of hospital admissions. Patients in Group A had longer median hospital stays compared to Group B (48 vs. 32 days, p = 0.007). The median total hospitalization cost for Group A was more than twice that for Group B ($99,995 vs. $47,838, p = 0.001). Differences in hospital disposition, number of CT examinations, number of drains, and time between original surgery and first CT examination were statistically significant. CONCLUSION: Gastrointestinal anastomotic leaks managed by percutaneous drainage are associated with lower hospital cost and shorter hospital stays compared with surgical management.

The incarcerated uterus: a review of MRI and ultrasound imaging appearances.

OBJECTIVE: The objective of this article is to review the MRI and ultrasound appearances of incarcerated uterus. CONCLUSION: Incarcerated uterus is a rare but serious complication of pregnancy in which the gravid uterus becomes trapped in the posterior pelvis. Characteristic MRI and ultrasound imaging features enable definitive diagnosis of incarcerated uterus, which reduces risks of complications that can lead to maternal and fetal morbidity and mortality.

Cancer in pregnancy: cross-sectional oncologic imaging utilization at a tertiary care center with an algorithmic approach to imaging.

PURPOSE: To review utilization of imaging in pregnant patients with malignancies and define an imaging algorithm in this patient population. METHODS: Pregnant patients with concurrent diagnoses of malignancy from January 2002 to January 2011 were identified using an institutional electronic medical record system. Patients with history of malignancy concurrent with pregnancy who had documented cross-sectional imaging studies were included. Clinical charts were reviewed, and patient demographics, diagnoses, indication for imaging, imaging findings, and oncologic stage were recorded. Descriptive statistics were performed. RESULTS: Thirty-eight women were identified with malignancy concurrent with pregnancy. Twenty-seven patients had cross-sectional imaging studies during their pregnancy. There were 20 new diagnoses of malignancy and 7 with recurrent tumor. The most common new malignancies were lymphoma (5/27, 19%) and breast cancer (4/27, 15%). Two thirds (18/27, 66%) of the patients underwent at least one imaging study associated with ionizing radiation. CT imaging was utilized in 13 (48%) of 27 patients and MRI was used in 14 (52%) of 27 patients. Fifteen (75%) of the 20 patients with new diagnoses underwent oncologic staging with imaging that meets the standard of care based on National Comprehensive Cancer Network guidelines. An imaging algorithm was created as a guideline for the most common malignancies in pregnancy. CONCLUSIONS: Cross-sectional oncologic imaging in the pregnant patient involves a variety of imaging modalities including those with ionizing radiation. This imaging largely follows standard of care for the nonpregnant patient and is tailored to specific patient complaints. A generalized algorithm is offered here for imaging pregnant oncology patients.

Mandated radiologist-performed electronic order entry: effect on CT oral contrast administration.

OBJECTIVE: The purpose of this study was to determine whether radiologist-performed electronic order entry affects use of oral contrast material for CT. Contrast media have been classified as medications by The Joint Commission, which necessitates a physician order for their administration. MATERIALS AND METHODS: In a retrospective study, rates of use of oral and IV contrast material for inpatient abdominopelvic CT examinations performed 6 months before and 6 months after the date of implementation of computerized physician order entry were calculated. Radiologist perception of order entry time was assessed by survey; order entry time was measured for 10 blinded radiologists. Descriptive, chi-square, and Student t test statistics were used. RESULTS: A protocol that normally includes oral or IV contrast administration was used for 1693 CT examinations (784 before and 909 after May 25, 2010). No significant change (p > 0.05) was found in ratios of indications for CT, rates of use of IV contrast material, or rates of use of oral contrast material after computerized physician order entry was implemented. The mean perceived order entry time was 3 minutes 3 seconds (weighted average); the actual time was 1 minute 47 seconds (range, 1:19-2:25 minutes). The extrapolated cumulative order entry time was 26 hours 38 minutes of physician time in the 6-month period after computerized physician order entry was started. Most of the survey respondents (98%, 41/42) did not think radiologist order entry improved patient safety, and 43% (18/42) believed it to be very or extremely disruptive. CONCLUSION: Mandatory radiologist-performed electronic order entry does not negatively affect the rate of use of oral contrast for inpatient abdominopelvic CT, but it is potentially time-consuming and disliked by participating radiologists.

HIV and chronic methamphetamine dependence affect cerebral blood flow.

Human immunodeficiency virus (HIV) and methamphetamine (METH) dependence are independently associated with neuronal dysfunction. The coupling between cerebral blood flow (CBF) and neuronal activity is the basis of many task-based functional neuroimaging techniques. We examined the interaction between HIV infection and a previous history of METH dependence on CBF within the lenticular nuclei (LN). Twenty-four HIV-/METH-, eight HIV-/METH+, 24 HIV+/METH-, and 15 HIV+/METH+ participants performed a finger tapping paradigm. A multiple regression analysis of covariance assessed associations and two-way interactions between CBF and HIV serostatus and/or previous history of METH dependence. HIV+ individuals had a trend towards a lower baseline CBF (-10%, p = 0.07) and greater CBF changes for the functional task (+32%, p = 0.01) than HIV- subjects. Individuals with a previous history of METH dependence had a lower baseline CBF (-16%, p = 0.007) and greater CBF changes for a functional task (+33%, p = 0.02). However, no interaction existed between HIV serostatus and previous history of METH dependence for either baseline CBF (p = 0.53) or CBF changes for a functional task (p = 0.10). In addition, CBF and volume in the LN were not correlated. A possible additive relationship could exist between HIV infection and a history of METH dependence on CBF with a previous history of METH dependence having a larger contribution. Abnormalities in CBF could serve as a surrogate measure for assessing the chronic effects of HIV and previous METH dependence on brain function.