Urological complications caused by inferior vena cava filters: a systematic review.

INTRODUCTION: Inferior vena cava (IVC) filters act in preventing pulmonary embolisms (PE). Various complications have been reported with their use. However, a credible urological complication rate, filter characteristics, and clinical presentation has yet to be summarized. Thus, we reported these complications in the form of a systematic review. EVIDENCE ACQUISITION: A search strategy was designed using PubMed, MEDLINE, and EMBASE on February 10th, 2022. The design of this search strategy did not include any language restrictions. The key words (and wildcard terms) used in the search strategy were urolog*, ureter*, bladder, kidney coupled with filter, inferior vena cava, and cava*. Inclusion criteria were: patients older than 18, with previous IVC filter placement, and urologic complication reported. Exclusion criteria were: patients younger than 18, no IVC filter placement, and no urologic complication reported. Other case series and reviews were excluded to avoid patient duplication. EVIDENCE SYNTHESIS: Thirty-five articles were selected for full-text screening. Thirty-seven patient cases were reviewed, and the median age was 53 (range: 21-92 years old). Abdominal and or flank pain was reported in 16 (43%) patients, hematuria was seen in eight (22%) and two (5%) patients died due to acute renal failure resulting from the urologic complications of the IVC filter. Indications for IVC filter placement were recurrent pulmonary embolism (PE), contraindication to or noncompliance with anticoagulant therapy. The IVC filters were infrarenal in 29 (78.4%) patients, suprarenal in five (13.5%) patients, not reported in two patients, and misplaced into the right ovarian vein in one patient. Three or more imaging modalities were obtained in 19 patients (51%) for planning. IVC filter removal was not performed in 17 (45.9%) patients, endovascular retrieval occurred in nine (24.3%) patients, and open removal was performed in seven (18.9%) patients, and tissue interposition was performed in two (5.4%) patients. One patient did not have the management reported. CONCLUSIONS: Urological complications caused by IVC filters although rare, are likely underreported, require extensive workup, and pose surgical challenges. Due to their complex management, filter retrieval should be planned for as soon as feasible, and plans should be made as early as during the IVC filter implant. For those that do develop complications, clinical judgement must be exercised in management, and open surgical, endovascular or even conservative management strategies can be viable options and should be discussed in a multidisciplinary setting.

Diagnostic and Surgical Implications of Non-occlusive Mesenteric Ischemic Ileus Associated With Common Celiacomesenteric Trunk: A Case Report and Literature Review.

The celiacomesenteric trunk (CMT), an exceedingly rare anatomic variant uniting the celiac artery and superior mesenteric artery (SMA), holds significant clinical and surgical implications. Despite its rarity, understanding these implications is crucial for effective management. This report outlines the case of a 99-year-old female presenting with septic shock and abdominal pain, with imaging revealing an incidental CMT. This paper aims to elucidate the surgical implications associated with CMT through a comprehensive case review and literature search. A 99-year-old female with multiple cardiovascular comorbidities presented with altered mental status and right lower quadrant abdominal pain. Upon arrival, the patient exhibited disorientation, an inability to follow commands, hypoxia, and hypotension. Significant laboratory findings included a white count of 20.6 x 109/L, lactate of 6.1 mmol/L, glucose of 53 mg/dL, alanine transaminase (ALT)/aspartate aminotransferase (AST) of 186/336 U/L, and creatinine of 4.2 mg/dL. Immediate interventions involved high-flow oxygen, fluid resuscitation, intravenous antibiotics, and admission to the ICU for septic shock. A CT angiogram (CTA) revealed an incidental large common trunk comprising the celiac trunk and superior mesenteric artery (SMA). There was a high-grade stenosis at the origin of the SMA. However, all the vessels were widely patent distally, and acute mesenteric occlusion was ruled out. By day 12, the patient achieved clinical stability after conservative management and was discharged. Complications such as aneurysm, dissection, stenosis, thrombosis, or acute occlusion of a CMT may necessitate complex surgical interventions, including endovascular procedures or open hepatic surgery. Understanding these technical complexities is vital for avoiding surgical complications in critically ill patients.

Heart rate and breathing effects on attention and memory (HeartBEAM): study protocol for a randomized controlled trial in older adults.

BACKGROUND: In healthy people, the "fight-or-flight" sympathetic system is counterbalanced by the "rest-and-digest" parasympathetic system. As we grow older, the parasympathetic system declines as the sympathetic system becomes hyperactive. In our prior heart rate variability biofeedback and emotion regulation (HRV-ER) clinical trial, we found that increasing parasympathetic activity through daily practice of slow-paced breathing significantly decreased plasma amyloid-ß (Aß) in healthy younger and older adults. In healthy adults, higher plasma Aß is associated with greater risk of Alzheimer's disease (AD). Our primary goal of this trial is to reproduce and extend our initial findings regarding effects of slow-paced breathing on Aß. Our secondary objectives are to examine the effects of daily slow-paced breathing on brain structure and the rate of learning. METHODS: Adults aged 50-70 have been randomized to practice one of two breathing protocols twice daily for 9 weeks: (1) "slow-paced breathing condition" involving daily cognitive training followed by slow-paced breathing designed to maximize heart rate oscillations or (2) "random-paced breathing condition" involving daily cognitive training followed by random-paced breathing to avoid increasing heart rate oscillations. The primary outcomes are plasma Aß40 and Aß42 levels and plasma Aß42/40 ratio. The secondary outcomes are brain perivascular space volume, hippocampal volume, and learning rates measured by cognitive training performance. Other pre-registered outcomes include plasma pTau-181/tTau ratio and urine Aß42. Recruitment began in January 2023. Interventions are ongoing and will be completed by the end of 2023. DISCUSSION: Our HRV-ER trial was groundbreaking in demonstrating that a behavioral intervention can reduce plasma Aß levels relative to a randomized control group. We aim to reproduce these findings while testing effects on brain clearance pathways and cognition. TRIAL REGISTRATION: ClinicalTrials.gov NCT05602220. Registered on January 12, 2023.

Increased histological severity and chronicity of interface inflammation in anti-MDA5 dermatomyositis-A comparative dermatopathological analysis.

Anti-melanoma differentiation-associated gene 5 (MDA5) dermatomyositis is characterized by serological detection of anti-MDA5 antibody and rapidly progressive interstitial lung disease. In this study, the largest cohort of skin biopsies to date of anti-MDA5 dermatomyositis was reviewed and compared with cases of dermatomyositis with negative serology. Findings contribute to the histological diagnosis and evaluation of the severity of cutaneous inflammation in anti-MDA5 dermatomyositis. Skin biopsies collected over a 7-year period from individuals with clinically and histologically confirmed dermatomyositis with anti-MDA5 serology were reviewed. A total of 46 cases with 17 anti-MDA5 positive cases were retrieved. Patients with positive antibody were younger (53.7 vs. 60.6 years, p = .013). No differences in epidermal changes (p > .05) were observed. Pertaining to interface changes, anti-MDA5 dermatomyositis showed a higher degree of pigmentary incontinence (p = .014), suggesting increased and sustained cutaneous inflammation. Periodic acid-Schiff (PAS) stain demonstrated a greater degree of basement membrane thickening (p = .045). Other parameters, including dermal inflammation, dermal mucin deposition and vasculitic/vasculopathic features did not show statistical difference between anti-MDA5 positive and negative dermatomyositis (p > .05). Findings suggest increased cutaneous inflammation for anti-MDA5 dermatomyositis. In skin biopsies, marked pigmentary incontinence or basement membrane thickening should raise suspicion of anti-MDA5 dermatomyositis.

Multimodal neuroimaging data from a 5-week heart rate variability biofeedback randomized clinical trial.

We present data from the Heart Rate Variability and Emotion Regulation (HRV-ER) randomized clinical trial testing effects of HRV biofeedback. Younger (N = 121) and older (N = 72) participants completed baseline magnetic resonance imaging (MRI) including T1-weighted, resting and emotion regulation task functional MRI (fMRI), pulsed continuous arterial spin labeling (PCASL), and proton magnetic resonance spectroscopy (1H MRS). During fMRI scans, physiological measures (blood pressure, pulse, respiration, and end-tidal CO2) were continuously acquired. Participants were randomized to either increase heart rate oscillations or decrease heart rate oscillations during daily sessions. After 5 weeks of HRV biofeedback, they repeated the baseline measurements in addition to new measures (ultimatum game fMRI, training mimicking during blood oxygen level dependent (BOLD) and PCASL fMRI). Participants also wore a wristband sensor to estimate sleep time. Psychological assessment comprised three cognitive tests and ten questionnaires related to emotional well-being. A subset (N = 104) provided plasma samples pre- and post-intervention that were assayed for amyloid and tau. Data is publicly available via the OpenNeuro data sharing platform.

Pre-Emptive Opioid-Sparing Medication Protocol Decreases Pain and Length of Hospital Stay in Children Undergoing Posterior Spinal Instrumented Fusion for Scoliosis.

Background: Poorly controlled post-operative pain following Posterior Spinal Instrumented Fusion (PSIF) for scoliosis may be associated with delayed ambulation and longer hospital stays. Multimodal analgesia use has been shown to provide superior analgesia with improved recovery and reduction of post-operative morbidity in other orthopedic subspecialties, but has not been described with pediatric patients undergoing spinal surgery. Objective: We describe a novel, pre-emptive, opioid-sparing pediatric pain medication protocol that is started two days prior to surgery, in accordance with first-order pharmacokinetics, and continued post-operatively until discharge with the goal of decreasing post-operative pain, improving early mobilization, and ultimately decreasing the patient's length of hospital stay. Methods: We retrospectively reviewed 116 PSIF cases from March 2014 to November 2017. Fifty-two patients received standard analgesia before August 2016, and 64 patients after August 2016 received the pre-emptive protocol consisting of a standardized combination of acetaminophen, celecoxib, and gabapentin two days prior to surgery and continued during their inpatient stay. Scheduled oxycodone and intravenous hydromorphone via patient controlled analgesia (PCA) were given to both groups equally during the post-operative hospital stay. We analyzed length of stay, total opioid consumption, and maximum pain scores per day from surgical to discharge date. Results: 116 patients were included: 64 patients in the pre-emptive group and 52 patients in the standard group. Length of hospital stay significantly differed, with means of 3.9 days in the pre-emptive group and 4.5 days in the standard analgesia group (p<0.05). Patients in the pre-emptive group recorded significantly lower maximal pain levels than those in the standard analgesia group on post-operative days #1 (4.9 vs. 5.8, p=0.0196), #3 (4.4 vs. 6.1, p=0.0006), and #4 (4.2 vs. 5.4, p=0.0393). Total post-operative morphine equivalents taken did not significantly differ between the two groups. Conclusion: This is a preliminary report demonstrating a significant decrease in maximal pain score and length of stay following PSIF on a cohort of patients receiving a novel pre-emptive opioid-sparing pain medication protocol based on first order pharmacokinetics. Future studies should investigate degree of mobilization and opioid consumption and maximal pain level after discharge from the hospital. Level of Evidence: III.

Mohs Surgery for Periocular Basal Cell Carcinoma Without a Mohs Surgeon: The First Series in Hong Kong.

Purpose To report the first series of Mohs micrographic surgery (MMS) in Hong Kong, where the roles of a Mohs surgeon were shared and coordinated by a "mobile" surgeon. METHODS DESIGN: Prospective non-comparative interventional case series. SUBJECTS: 20 consecutive Chinese patients (10 male, age 78.5+10.4 years, range 55-91 years) with primary periocular basal cell carcinoma (pBCC) referred to the university oculoplastic unit between October 2007 and August 2013. INTERVENTION: MMS were conducted according to a streamlined standard operating procedure emphasizing surgeon-driven mapping, specimen orientation, and on-site clinico-histological correlation with the dermatopathologist at the frozen-section laboratory. MAIN OUTCOME MEASURES: Clinical and histological characteristics of tumors, layers of Mohs procedures, complications, and biopsy-confirmed recurrence at the same location. Results All 20 patients received MMS as planned. Sixteen pBCCs (80%) were diffusely pigmented, and three (15%) were focally pigmented. Sixteen were also nodular. The average tumor diameter was 7+3 (3-15) mm. Seven (35%) were within 2 mm of the punctum. Histologically, 11 (55%) were nodules, and four (20%) were superficial. An average of 1.8+0.8 Mohs levels were performed. Apart from the initial two patients, who required four and three levels, respectively, seven (35%) patients were cleared after the first level of MMS using a 1mm clinical margin. The remaining 11 patients required two levels with an additional 1-2mm margin, but only focally as guided histologically. Defects in 16 patients (80%) were reconstructed by local flaps, two by direct closure, and two with pentagon closure. Among the seven patients with pericanalicular BCC, three patients had their remaining canaliculi successfully intubated, while two developed stenotic upper and two lower punctae postoperatively. One patient had prolonged wound healing. Three patients had lid margin notching, two had medial ectropion, one had medial canthal rounding, and two had lateral canthal dystopia. No recurrence was detected at a mean follow-up of 80+23 months (43 to 113 months) in all patients. Conclusions MMS was successfully introduced in Hong Kong without a Mohs surgeon. Providing complete microscopic margin control and preserving tissues, it was proven to be a valuable treatment option for pBCC. Our multidisciplinary protocol demonstrated that these merits are possible and warrant validation in other resource-limited healthcare settings.

Adolescent idiopathic scoliosis patients treated with bracing, surgery, or observation showed no difference in behavioral and emotional function over a 2-year period.

The purpose of this study was to assess if behavior and emotional function, as measured by the Pearson Behavioral Assessment Survey for Children, Second Edition (BASC-2) in patients and parents, changes with differing treatment protocols in patients with adolescent idiopathic scoliosis (AIS). One previous study showed abnormal BASC-2 scores in a substantial number of patients diagnosed with AIS; however, no study has assessed how these scores change over the course of treatment. AIS patients aged 12 to 21 years completed the BASC-2. The 176-item questionnaire was administered to subjects at enrollment, assessing behavioral and emotional problems across 16 subscales of 5 domains: school problems, internalizing problems, inattention/hyperactivity, emotional symptoms index, and personal adjustment. Parents were given an equivalent assessment survey. Surveys were administered again after 2 years. Subject treatment groups (bracing, surgery, and observation) were established at enrollment. Patients were excluded if they did not complete the BASC-2 at both time points. Forty-six patients met the inclusion criteria, with 13 patients in the surgical, 20 in the bracing, and 13 in the observation treatment groups. At enrollment, 26% (12/46) of subjects with AIS had a clinically significant score in 1 or more subscales, and after 2 years 24% (11/46) of subjects reported a clinically significant score in at least 1 subscale (P = .8). There were no significant differences in scores between enrollment and follow-up in any treatment group. Similar to what was reported in a previous study, only 36% (4/11) of patients had clinically significant scores reported by both patient and parent, conversely 64% (7/11) of parents were unaware of their child's clinically significant behavioral and emotional problems. Common patient-reported subscales for clinically significant and at-risk scores at enrollment included anxiety (24%; 11/46), hyperactivity (24%; 11/46), attention problems (17%; 8/46), and self-esteem (17%; 8/46). At 2-year follow-up, the most commonly reported subscales were anxiety (28%; 13/46), somatization (20%; 9/46), and self-esteem (30%; 14/46). Patients with AIS, whether observed, braced or treated surgically, showed no significant change in behavior and emotional distress over the course of their treatment, or compared with each other at 2-year follow-up.

A rare presentation of pemphigus vegetans as an isolated vegetative lesion-Review of histopathological clues and treatment effects in multiple biopsy specimens.

BACKGROUND: Pemphigus is a group of immunobullous dermatoses characterized by the presence of autoantibodies directed against adhesion molecules of keratinocytes, with pemphigus vegetans being the rarest form, accounting for 1%-2% of all cases of pemphigus. Pemphigus vegetans is characterized by verrucous vegetative lesions in addition to vesiculobullous lesions. METHODS: We report a rare case of pemphigus vegetans presenting as an isolated vegetative lesion in the groin 3 months prior to the development of blisters. Owing to the atypical presentation, multiple biopsies were performed before and after corticosteroid treatment. RESULTS: Comparing the histopathology of pre-treatment and post-treatment biopsy specimens, the resolution of intraepidermal microabscesses, and reduction in intraepidermal and dermal inflammatory infiltrates, spongiosis and interface change, attributable to treatment, were noted. However, direct immunofluorescence showed persistent intracellular intraepidermal deposition of IgG and C3 2 weeks into treatment, despite near-complete resolution of blisters on clinical examination. Clinical regression of the vegetative lesion was noted only after 6 weeks into corticosteroid treatment, while histopathological evidence of treatment was apparent at the second week. CONCLUSION: The current case illustrates the importance of a liberal use of immunofluorescence studies in establishing the uncommon yet significant diagnosis of pemphigus vegetans, particularly for vegetative lesions that are persistent, in the intertriginous areas and/or in the setting of concurrent cutaneous or mucosal symptoms.

Heart rate variability (HRV) changes and cortical volume changes in a randomized trial of five weeks of daily HRV biofeedback in younger and older adults.

Previous studies indicate that the structure and function of medial prefrontal cortex (PFC) and lateral orbitofrontal cortex (OFC) are associated with heart rate variability (HRV). Typically, this association is assumed to reflect the PFC's role in controlling HRV and emotion regulation, with better prefrontal structural integrity supporting greater HRV and better emotion regulation. However, as a control system, the PFC must monitor and respond to heart rate oscillatory activity. Thus, engaging in regulatory feedback during heart rate oscillatory activity may over time help shape PFC structure, as relevant circuits and connections are modified. In the current study with younger and older adults, we tested whether 5 weeks of daily sessions of biofeedback to increase heart rate oscillations (Osc+ condition) vs. to decrease heart rate oscillations (Osc- condition) affected cortical volume in left OFC and right OFC, two regions particularly associated with HRV in prior studies. The left OFC showed significant differences in volume change across conditions, with Osc+ increasing volume relative to Osc-. The volume changes in left OFC were significantly correlated with changes in mood disturbance. In addition, resting low frequency HRV increased more in the Osc+ than in the Osc- condition. These findings indicate that daily biofeedback sessions regulating heart rate oscillatory activity can shape both resting HRV and the brain circuits that help control HRV and regulate emotion.

PRAME immunostain expression in sebaceous lesions, cutaneous carcinomas and adnexal structures.

The use of immunostain for PRAME antigen is well established for cutaneous melanolocytic lesions. However, its staining in other cutaneous structures and lesions is under reported. This study assessed PRAME staining in a large cohort of normal skin tissue, sebaceous lesions, and cutaneous carcinomas to better delineate patterns of PRAME immunoreactivity. PRAME immunostaining was performed on sections of sebaceous lesions and tissue microarrays of basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs). Normal cutaneous adnexal structures were assessed on the sections of sebaceous lesions. For sebaceous lesions and non-lesional sebaceous glands, PRAME immunostaining was assessed for mature, germinative and sebocytes independently. A total of 193 sebaceous lesions, 64 BCCs and 35 SCCs were stained for PRAME immunostain. Staining pattern was predominantly cytoplasmic in normal apocrine glands, germinative sebocytes of sebaceous glands, and hair germs (p<0.001). Lesional sebocytes did not show different staining compared to normal sebaceous glands (p>0.05). Rare nuclear staining was observed in the normal epidermis (0.6%) and junctional melanocytes (4.1%). BCC, SCC and sebaceous carcinoma all showed low levels of PRAME immunoreactivity with variable proportions of cases demonstrating nuclear staining (BCC 59.4%, SCC 37.1%, sebaceous carcinoma 5.3%). PRAME immunostaining is positive in germinative sebocytes, various cutaneous structures and carcinomas. Nuclear staining, identical to melanoma, was observed in normal epidermis, junctional melanocytes, BCCs, SCCs, and sebaceous carcinomas. The pattern of PRAME staining in the skin must be recognised to avoid pitfalls in interpretating PRAME immunostain.

An Inkjet Printed Flexible Electrocorticography (ECoG) Microelectrode Array on a Thin Parylene-C Film.

Electrocorticography (ECoG) is a conventional, invasive technique for recording brain signals from the cortical surface using an array of electrodes. In this study, we developed a highly flexible 22-channel ECoG microelectrode array on a thin Parylene film using novel fabrication techniques. Narrow (<40 µm) and thin (<500 nm) microelectrode patterns were first printed on PDMS, then the patterns were transferred onto Parylene films via vapor deposition and peeling. A custom-designed, 3D-printed connector was built and assembled with the Parylene-based flexible ECoG microelectrode array without soldering. The impedance of the assembled ECoG electrode array was measured in vitro by electrochemical impedance spectroscopy, and the result was consistent. In addition, we conducted in vivo studies by implanting the flexible ECoG sensor in a rat and successfully recording brain signals.

Are English-language online patient education materials related to breast cancer risk assessment understandable, readable, and actionable?

PURPOSE: To evaluate the readability, understandability, and actionability of online patient education materials (OPEM) related to breast cancer risk assessment. MATERIAL AND METHODS: We queried seven English-language search terms related to breast cancer risk assessment: breast cancer high-risk, breast cancer risk factors, breast cancer family history, BRCA, breast cancer risk assessment, Tyrer-Cuzick, and Gail model. Websites were categorized as: academic/hospital-based, commercial, government, non-profit or academic based on the organization hosting the site. Grade-level readability of qualifying websites and categories was determined using readability metrics and generalized estimating equations based on written content only. Readability scores were compared to the recommended parameters set by the American Medical Association (AMA). Understandability and actionability of OPEM related to breast cancer high-risk were evaluated using the Patient Education Materials Assessment Tool (PEMAT) and compared to criteria set at ≥70%. Descriptive statistics and inter-rater reliability analysis were utilized. RESULTS: 343 websites were identified, of which 162 met study inclusion criteria. The average grade readability score was 12.1 across all websites (range 10.8-13.4). No website met the AMA recommendation. Commercial websites demonstrated the highest overall average readability of 13.1. Of the 26 websites related to the search term breast cancer high-risk, the average understandability and actionability scores were 62% and 34% respectively, both below criteria. CONCLUSIONS: OPEM on breast cancer risk assessment available to the general public do not meet criteria for readability, understandability, or actionability. To ensure patient comprehension of medical information online, future information should be published in simpler, more appropriate terms.

Designing reliable electrochemical cells for operando lithium-ion battery study.

Operando experiments attract increasing attention in lithium-ion batteries (LIBs) studies for their ability to capture non-equilibrium and fast-transient processes during electrochemical reactions. They provide valuable information and mechanisms that cannot be obtained from ex-situ methods. Designing a suitable and reliable electrochemical cell is the first crucial step for most operando studies. A poorly designed in-situ cell introduces artifacts into the data and might lead to misleading results. Even though many in-situ cells have been designed and applied for operando studies, designing a reliable cell is not trivial, especially for long-term cycling experiments. This study introduces the steps and details of a specific type of in-situ cell, i.e., modified coin cell, that can be applied reliably in various operando experiments. The reliability of the modified coin cell is demonstrated by comparing its electrochemical performance with the standard coin cell. The modified coin cell is then applied in various operando experiments, including operando transmission X-ray microscopy and operando synchrotron X-ray scattering.•Sealing the cell casing window with metal films maintains the overall electrochemical performance of electrodes.•Depending on the operando experiment, the type of the coin cell and the window shape must be selected carefully.

Alkyl-Terminated Gold Nanoparticles as a Self-Therapeutic Treatment for Psoriasis.

We present a self-therapeutic nanoparticle for topical delivery to epidermal keratinocytes to prevent and treat psoriasis. Devoid of known chemical or biological antipsoriatic drugs, this sub-15 nm nanoparticle contains a 3 nm gold core and a shell of 1000 Da polyethylene glycol strands modified with 30% octadecyl chains. When it is applied to imiquimod-induced psoriasis mice without an excipient, the nanoparticle can cross the stratum corneum and preferentially enter keratinocytes. Applying the nanoparticles concurrently with imiquimod prevents psoriasis and downregulates genes that are enriched in the downstream of the interleukin-17 signaling pathway and linked to epidermis hyperproliferation and inflammation. Applying the nanoparticles after psoriasis is established treats the psoriatic skin as effectively as standard steroid and vitamin D analog-based therapy but without hair loss and skin wrinkling. The nanoparticles do not accumulate in major organs or induce long-term toxicity. Our nanoparticle offers a simple, safe, and effective alternative for treating psoriasis.

High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53-74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 µmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present.

Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.

BACKGROUND: Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). METHODS: We describe genetics of neonatal EB in Hong Kong. RESULTS: Two neonates of consanguineous Pakistani parents had the EB-Pyloric Atresia (EB-PA) variant. One had a 4 kb homozygous deletion of exon 19-25 of the ITGB4 gene, and the other with only a histopathological diagnosis. Both died of sepsis in infancy. Aberrant COL7A1 mutations in the dominant and recessive EB were described. Genetic analysis, together with histopathological classification is important to aid prognosis and counseling. JEB and EB-PA are associated with consanguinity and mortality during infancy. Morbidity and prognosis of the autosomal dominant DEB are optimistic. The autosomal recessive DEB is more severe, with neonatal onset and recurrent blistering. It is also associated with chronicity and malignant changes when the child reaches adulthood. CONCLUSION: Exact genetic diagnosis aids in counseling of the family concerning the prognosis in the affected child and the risk of affected children in future pregnancies.

Perioperative Pain and Addiction Interdisciplinary Network (PAIN): consensus recommendations for perioperative management of cannabis and cannabinoid-based medicine users by a modified Delphi process.

In many countries, liberalisation of the legislation regulating the use of cannabis has outpaced rigorous scientific studies, and a growing number of patients presenting for surgery consume cannabis regularly. Research to date suggests that cannabis can impact perioperative outcomes. We present recommendations obtained using a modified Delphi method for the perioperative care of cannabis-using patients. A steering committee was formed and a review of medical literature with respect to perioperative cannabis use was conducted. This was followed by the recruitment of a panel of 17 experts on the care of cannabis-consuming patients. Panellists were blinded to each other's participation and were provided with rater forms exploring the appropriateness of specific perioperative care elements. The completed rater forms were analysed for consensus. The expert panel was then unblinded and met to discuss the rater form analyses. Draft recommendations were then created and returned to the expert panel for further comment. The draft recommendations were also sent to four independent reviewers (a surgeon, a nurse practitioner, and two patients). The collected feedback was used to finalise the recommendations. The major recommendations obtained included emphasising the importance of eliciting a history of cannabis use, quantifying it, and ensuring contact with a cannabis authoriser (if one exists). Recommendations also included the consideration of perioperative cannabis weaning, additional postoperative nausea and vomiting prophylaxis, and additional attention to monitoring and maintaining anaesthetic depth. Postoperative recommendations included anticipating increased postoperative analgesic requirements and maintaining vigilance for cannabis withdrawal syndrome.

A Multimetric Evaluation of Online Patient Educational Materials for Breast Implant-associated Anaplastic Large Cell Lymphoma.

OBJECTIVE: To assess understandability, actionability, and readability of online patient educational materials (OPEM) related to breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). METHODS: Search volumes for query terms related to BIA-ALCL including "breast implant associated lymphoma," "breast implant associated anaplastic large cell lymphoma," and "BIA-ALCL" were analyzed in one-week increments and normalized to total Google search volume. The same terms were then queried using an online search engine to identify commonly accessed OPEM on this topic. Understandability and actionability of OPEM were evaluated using the Patient Education Materials Assessment Tool. Grade-level readability was determined using generalized estimating equations, with observations nested within readability metrics from each website. All interval estimates were calculated for 95% confidence. RESULTS: Overall, 24 websites were identified based on search parameters. Of these websites, 11 (45.8%) met criteria for understandability, and 1 (4.2%) met criteria for actionability. Overall, readability ranged from 10.2 to 17.3 for all websites with an average grade level readability of 12.4; 0 websites were written at or below a sixth-grade reading level. Government websites had the highest average grade reading level at 14.0, followed by commercial websites at 13.2, nonprofit websites at 12.0, and then academic/hospital-based websites at 11.5. CONCLUSION: The quality of available OPEM on BIA-ALCL is limited. Future development of OPEM should be designed with the goal of improving both comprehension and actionability to help reduce patient anxiety and unnecessary clinical appointments related to this disease.