A Case of Hailey-Hailey Disease Managed With Oral Magnesium Citrate and High-Dose Vitamin D3.

Hailey-Hailey disease, or benign familial pemphigus, is a rare blistering disease originally described in 1939. The disease is due to an autosomal dominant mutation in the ATP2C1 gene on chromosome 3, which encodes for an adenosine triphosphate-dependent calcium pump in the Golgi apparatus whose function is to maintain intercellular calcium homeostasis. Common treatments for Hailey-Hailey disease involve calcineurin inhibitors, topical corticosteroids, topical or systemic antibiotics, topical antifungals, ablative lasers, or botulin toxin. In this case report, we highlight a unique case of Hailey-Hailey disease that was resistant to many conventional therapies and ultimately managed with oral magnesium citrate and high-dose vitamin D3.

Polymorphic Ventricular Tachycardia Detected With a Smartwatch.

"Wearable" devices are a rapidly evolving technology that often can record and store personal healthcare data. We report the case of a 64-year-old woman who presented with a syncopal episode and subsequent cardiac arrest, ultimately requiring a dual-chamber implantable cardioverter defibrillator. Prior to hospitalization, she obtained electrocardiogram recordings using her Apple Watch, due to feeling unwell, and one showed nonsustained polymorphic ventricular tachycardia. Direct-to-consumer electrocardiogram monitors in "wearables" are increasing in popularity and may play a role in the work-up and diagnosis of patients' symptoms. However, they are not a replacement for healthcare expertise, and their misuse may result in undue anxiety and inappropriate healthcare utilization.

Les appareils « prêt-à-porter ¼ disposent d'une technologie qui évolue rapidement. Ils peuvent souvent enregistrer et stocker les données de santé personnelles. Nous présentons le cas d'une femme de 64 ans qui après avoir subi un épisode de syncope et un arrêt cardiaque subséquent a finalement eu besoin d'un défibrillateur cardioverteur implantable double chambre. Avant l'hospitalisation, elle a obtenu les enregistrements de l'électrocardiogramme grâce à sa montre Apple, puisqu'elle se sentait mal, et l'un des enregistrements montrait une tachycardie ventriculaire polymorphique non soutenue. Les moniteurs électrocardiogrammes vendus directement aux consommateurs dans les « prêts-à-porter ¼ augmentent en popularité et peuvent jouer un rôle dans le bilan de santé et le diagnostic des patients. Toutefois, ils ne remplacent pas les experts de la santé, et leur mésusage peut entraîner une anxiété excessive et une utilisation inappropriée des soins de santé.

Early Lyme neuroborreliosis manifesting as brachial plexopathy and meningitis in Northwestern Ontario, Canada: A case report.

RATIONALE: Lyme disease is a tick-borne disease caused by the spirochete B. burgdorferi, and patients often present with symptoms comparable to a viral-like illness. The diagnosis can be challenging given its wide range of manifestations and diagnostic testing can take days or longer. Here, we present a case of Lyme disease presenting as brachial plexopathy and meningitis. PATIENT CONCERNS: A 76-years-old male presented to a tertiary-care hospital with left arm weakness and neck pain. DIAGNOSIS: Our patient was diagnosed with Lyme neuroborreliosis and had positive serology, including enzyme immunoassay and Western blot. INTERVENTIONS: Our patient received 17 days of ceftriaxone (2g IV daily) followed by oral doxycycline (100mg bid). OUTCOMES: Over the subsequent year, our patient had eventual complete recovery in muscle strength and sensation, with slower improvement to the cervical neck and left arm pain. LESSONS: Incidence of Lyme disease is increasing in North America, and the disease has a wide range of symptoms. Lyme neuroborreliosis (LNB) is 1 presentation and can present with early or late manifestations; clinicians should maintain a high index of suspicion and begin empiric treatment in individuals with a clinical syndrome consistent with LNB. Early LNB manifestations have onset within 6 months of infection and include cranial and peripheral neuropathy, radiculitis, and aseptic meningitis; late LNB encompasses a chronic encephalomyelitis.

Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations.

Congenital absence of the vas deferens (CAVD) is a rare genetic condition first discovered in the mid-18th century related to mutations in the cystic fibrosis transmembrane regulatory genes. The condition is typically found during work-up of male infertility, and the majority of cases can be diagnosed with complete history and physical examination and pertinent investigations. The condition can be separated into three subcategories, and genetic advances have led to a much better understanding behind the disease, its pathogenesis, and options for treatment. In this review, we discuss the genetics, pathogenesis, embryology, and diagnosis of treatment of CAVD. Future work in this area likely will aim to better understand the epigenetic factors that influence the development of the condition in order to identify potential upstream therapeutic targets.

Recurrent melanoma development in a Caucasian female with CDKN2A+ mutation and FAMMM syndrome: A case report.

Melanoma is a form of skin cancer originating from melanocytes that has an increasing incidence over the past few decades. From 1992 to 2010, the overall incidence of melanoma was 12.29 cases per 100,000 person-years in Canada. Approximately 10% of cases are attributed to a hereditary component, with one of the most common being familial atypical multiple mole melanoma syndrome. In this case report, we highlight the atypical case of a middle-aged Caucasian female with familial atypical multiple mole melanoma syndrome, who has developed dozens of primary melanomas over the past decade. We highlight the management of her case, as well as the importance of monitoring by multiple other subspecialists given the propensity for the development of alternate malignancies.

Tunable Engineered Extracellular Matrix Materials: Polyelectrolyte Multilayers Promote Improved Neural Cell Growth and Survival.

Poly-d-lysine (PDL) and poly-l-lysine are standard surfaces for culturing neural cells; however, both are relatively unstable, costly, and the coated surface typically must be prepared immediately before use. Here, polyelectrolyte multilayers (PEMs) are employed as highly stable, relatively inexpensive, alternative substrates to support primary neural cell culture. Initial findings identify specific silk-based PEMs that significantly outperform the capacity of PDL to promote neuronal survival and process extension. Based on these results, a library of PEM variants, including commercial and bio-sourced polyelectrolytes, is generated and three silk-based PEMs that substantially outperform PDL as a substrate for primary neurons in cell culture are identified. Further, testing these PEM variants as substrates for primary oligodendrocyte progenitors demonstrates that one silk-based PEM functions significantly better than PDL. These findings reveal specificity of cellular responses, indicating that PEMs may be tuned to optimally support different neural cell types.

Hospitalizations in Patients with Systemic Lupus Erythematosus in an Academic Health Science Center.

OBJECTIVE: Hospitalization occurs in about 10% of patients with systemic lupus erythematosus (SLE) each year and accounts for most of the direct cost of SLE patient care. We aimed to determine the frequency of admissions of patients with SLE and describe their causes and outcomes. METHODS: We identified all hospitalizations at University Health Network in the periods 2011-2012 and 2013-2015 with an International Classification of Diseases, 10th ed. code of M32 (SLE). A retrospective chart review of these patients categorized them based on SLE care provider and cause of admission. Frequency of emergency room visits and duration of hospitalization were ascertained. Poisson and linear regressions were performed to determine factors associated with frequency and duration of hospitalizations. RESULTS: There were 247 unique patients with SLE who were hospitalized a total of 491 times: 87.4% were women, average age of 43.9 ± 17.9 years, and disease duration 13.7 ± 12.3 years. Incidental causes were most common (35.6%); 21.4% and 22.4% of admissions were because of active SLE and infection, respectively. The patients with SLE averaged 1.6 hospitalizations lasting 8.5 days. Thirteen percent of hospitalizations resulted in intensive care unit admission, and 2.8% of hospitalizations resulted in death. Patient employment was associated with fewer hospitalizations during 2011-2015. Antimalarial use was associated with fewer hospitalizations as well as shorter length of stay during 2011-2012. The presence of damage correlated with increased hospitalizations. Higher educational level and antimalarial use correlated with shorter length of stay. CONCLUSION: Patients with SLE are frequently hospitalized, often because of active SLE or infection, and re-hospitalized within a short period of time.

Novel intravaginal nanomedicine for the targeted delivery of saquinavir to CD4+ immune cells.

The goal of this study was to develop and characterize an intravaginal nanomedicine for the active targeted delivery of saquinavir (SQV) to CD4(+) immune cells as a potential strategy to prevent or reduce HIV infection. The nanomedicine was formulated into a vaginal gel to provide ease in self-administration and to enhance retention within the vaginal tract. SQV-encapsulated nanoparticles (SQV-NPs) were prepared from poly(lactic-co-glycolic acid) (PLGA) and conjugated to antihuman anti-CD4 antibody. Antibody-conjugated SQV-NPs (Ab-SQV-NPs) had an encapsulation efficiency (EE%) of 74.4% + 3.7% and an antibody conjugation efficiency (ACE%) of 80.95% + 1.10%. Over 50% of total loaded SQV was released from NPs over 3 days. NPs were rapidly taken up by Sup-T1 cells, with more than a twofold increase in the intracellular levels of SQV when delivered by Ab-SQV-NPs in comparison to controls 1 hour post-treatment. No cytotoxicity was observed when vaginal epithelial cells were treated for 24 hours with drug-free Ab-NPs (1,000 µg/mL), 1% HEC placebo gel (200 mg/mL), or 1% HEC gel loaded with drug-free Ab-NPs (5 mg NPs/g gel, 200 mg/mL of gel mixture). Overall, we described an intravaginal nanomedicine that is nontoxic and can specifically deliver SQV into CD4(+) immune cells. This platform may demonstrate potential utility in its application as postexposure prophylaxis for the treatment or reduction of HIV infection, but further studies are required.