A Review of Remote Monitoring in Neuromodulation for Chronic Pain Management.

Purpose Of Review: Neuromodulation techniques have emerged as promising strategies for managing chronic pain. These techniques encompass various modalities of nerve stimulation, including Spinal Cord Stimulation (SCS), Dorsal Root Ganglion Stimulation (DRG-S), and Peripheral Nerve Stimulation (PNS). Studies consistently demonstrate significant improvements in pain intensity, quality of life, and reduced opioid usage among patients treated with these modalities.

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.

Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other potential treatment options, including adeno-associated virus (AAV) gene therapy.

Glycogen storage diseases.

Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future research directions. Some GSDs have available guidelines for diagnosis and management.

Utility of the HScore for Predicting COVID-19 Severity.

Background: Cytokine release syndrome is a life-threatening condition known to cause fever and multiple organ dysfunction and is suspected to be related to the severity of coronavirus disease 2019 (COVID-19). We sought to examine the utility of the HScore and non-cytokine markers of inflammation for predicting COVID-19 outcomes. We hypothesized that cytokine storm, assessed by a modified HScore, would be linked to more severe COVID-19 symptoms and higher mortality.

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.

There is a broad differential diagnosis of infantile hepatosplenomegaly, with some etiologies being debilitating and treatable. A structured approach to history, examination, and laboratory and radiographic findings is important in diagnosis. Herein, we present a case of Wolman disease presenting as hepatosplenomegaly in an infant.

Association of Natural Waterways and Infection in Eastern Wisconsin: A Case-Control Study.

Preliminary research has suggested possible associations between natural waterways and infection, and we previously explored these associations in eastern Wisconsin using positive serogroup 1 urine antigen tests (LUAT) as diagnostic. This case-control study was a secondary analysis of home address data from patients who underwent LUAT at a single eastern Wisconsin health system from 2013 to 2017. Only zip codes within the health system's catchment area that registered ≥3 positive cases and ≥50 completed tests, as well as geographically adjacent zip codes with ≥2 positive cases and ≥50 tests, were included.

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.

Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient with GSDIa and very early-onset inflammatory bowel disease (VEO-IBD). Larger studies are needed to better understand this possible association, elucidate the mechanism of VEO-IBD in GSDIa, and inform management.

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.

Background: Primary ciliary dyskinesia (PCD) is a motile ciliopathy characterised by otosinopulmonary infections. Inheritance is commonly autosomal recessive, with extensive locus and allelic heterogeneity. The prevalence is uncertain.

A novel cause of emergent hyperammonemia: fungemia and meningitis.

Among etiologies of hyperammonemic emergencies, infection must be considered in certain clinical contexts, particularly among immunocompromised individuals. Although is known to be urease-producing, to our knowledge it has not previously been described as a cause of hyperammonemia in patients. We report an immunocompromised man with acute on chronic kidney disease with hyperammonemic crisis due to meningitis and fungemia.

The Annual Institutional Review-Key Performance Measures and Processes.

Background: The Accreditation Council for Graduate Medical Education (ACGME) requires sponsoring institutions to demonstrate effective oversight through an annual institutional review (AIR). The ACGME only requires 3 elements to be reported, and it is up to the discretion of the designated institutional official (DIO) whether other supporting information should be included. This leads to uncertainty and inconsistency for DIOs as they decide what to report.

Epidemiologic Survey of Legionella Urine Antigen Testing Within a Large Wisconsin-Based Health Care System.

Purpose: Legionella pneumophila pneumonia is a life-threatening, environmentally acquired infection identifiable via Legionella urine antigen tests (LUAT). We aimed to identify cumulative incidence, demographic distribution, and undetected disease outbreaks of Legionella pneumonia via positive LUAT in a single eastern Wisconsin health system, with a focus on urban Milwaukee County.

Methods: A multilevel descriptive ecologic study was conducted utilizing electronic medical record data from a large integrated health care system of patients who underwent LUAT from 2013 to 2017.

Life-threatening presentations of propionic acidemia due to the Amish founder variant.

Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic decompensation and another with cardiogenic shock. PA can present with life-threatening metabolic decompensation or an adult-onset severe cardiomyopathy.

Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.

Objective: To evaluate whether cystic fibrosis transmembrane conductance regulator (CFTR) variants are more common among individuals tested for primary ciliary dyskinesia (PCD) compared with controls.

Study Design: Data were studied from 1021 individuals with commercial genetic testing for suspected PCD and 91 777 controls with genetic testing at the same company (Invitae) for symptoms/diseases unrelated to PCD or CFTR testing. The prevalence of CFTR variants was compared between controls and each of 3 groups of individuals tested for PCD (PCD-positive, -uncertain, and -negative molecular diagnosis).

Hemophilia A and B mice, but not VWFmice, display bone defects in congenital development and remodeling after injury.

While joint damage is the primary co-morbidity of hemophilia, osteoporosis and osteopenia are also observed. Coagulation factor VIII deficient (FVIII) mice develop an osteoporotic phenotype in the absence of induced hemarthrosis that is exacerbated two weeks after an induced joint injury. Here we have compared comprehensively the bone health of clotting factor VIII, factor IX, and Von Willebrand Factor knockout (FVIII, FIX, and VWF respectively) mice both in the absence of joint hemorrhage and following induced joint injury.

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Background: OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral-facial-digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X-linked intellectual disability, Joubert syndrome type 10 (JBTS10), Simpson-Golabi-Behmel syndrome type 2 (SGBS2), and retinitis pigmentosa. Recently, OFD1 pathogenic variants have been implicated in primary ciliary dyskinesia (PCD), a disorder of the motile cilia with a phenotype that includes recurrent oto-sino-pulmonary infections, situs abnormalities, and decreased fertility.

Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population.

Previous reports of lung function in cystic fibrosis (CF) patients with liver disease have shown worse, similar, or even better forced expiratory volume in 1 second (FEV1), compared to CF patients without liver disease. Varying definitions of CF liver disease likely contribute to these inconsistent relationships reported between CF lung function and liver disease. We retrospectively evaluated spirometric data in 179 subjects (62% male; 58% Phe508del homozygous) with severe CF liver disease (CFLD; defined by presence of portal hypertension due to cirrhosis).

Myelodysplasia and Mast Cell Leukemia with t(9;22).

Introduction: Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL.

Introducing a Novel Applicant Ranking Tool to Predict Future Resident Performance: A Pilot Study.

The purposes of this study are to (1) introduce our novel Applicant Ranking Tool that aligns with the Accreditation Council for Graduate Medical Education competencies and (2) share our preliminary results comparing applicant rank to current performance. After a thorough literature review and multiple roundtable discussions, an Applicant Ranking Tool was created. Feasibility, satisfaction, and critiques were discussed via open feedback session.

Nonalcoholic Steatohepatitis and Endpoints in Clinical Trials.

Nonalcoholic fatty liver disease (NAFLD) is now the leading cause of liver disease in developed countries, and the rates of NAFLD continue to rise in conjunction with the obesity pandemic. While the majority of patients with isolated steatosis generally have a benign course, a diagnosis of nonalcoholic steatohepatitis (NASH) carries a significantly higher risk for progression of disease, cirrhosis, and death. Pharmacologic therapeutic interventions in NASH have largely proven to be ineffective or unappealing due to long-term side-effect profiles, and the majority of patients cannot achieve or sustain targeted weight loss goals, necessitating an urgent need for therapeutic trials and drug development.

Clinical indicators associated with HIV acquisition in the United States Air Force.

Mandatory HIV screening of United States Air Force (USAF) personnel every two years effectively identifies incident cases, however testing frequency limits the ability to detect early HIV infection. Identifying clinical indicators of HIV in the USAF population is necessary to develop a supplemental provider-based targeted testing strategy. We conducted a matched case-control study of male active duty USAF personnel with a new HIV diagnosis (n = 452) between 1996 and 2011 matched to five randomly selected controls (n = 2176).

Preclinical Evidence on the Anticancer Properties of Food Peptides.

Natural, synthetic and analogues of peptides have shown prospects for application in cancer chemotherapy. Notably, some food protein-derived peptides are known to possess anticancer activities in cultured cancer cells, and also in animal cancer models via different mechanisms including induction of apoptosis, cell cycle arrest, cellular membrane disruption, inhibition of intracellular signalling, topoisomerases and proteases, and antiangiogenic activity. Although the mechanism of several anticancer food peptides is yet to be clearly elucidated, there is potential for practical applications of the peptides as functional food and nutraceutical ingredients, especially in adjuvant cancer therapy.