Hereditary hemochromatosis (HH) is a common genetic disease in the United States, but little is known about the diagnosis from the patient's perspective. The purpose of this study was to characterize the circumstances surrounding the diagnosis of HH and assess treatments and health information needs.We surveyed US adults aged 18 years and older who were diagnosed with HH after 1996. Response rate was 46%, with a total sample size of 979. Respondents were asked about the use of genetic and clinical markers in their diagnosis, current treatments, and health information needs.Results were stratified by age, education, and income status. Total of 90.0% of women and 75.5% of men were genetically tested for HH (P < .01). Approximately half (52.5%) were diagnosed by a gastroenterologist, hematologist, or other specialty physician and half were diagnosed by a primary care provider. Most of the respondents thought their HH had improved with the initial treatment and most patients were still receiving treatment for HH. Patient interest in learning more about specific hemochromatosis topics was generally high.Since the introduction of genetic identification of HH, these tests have been used in the diagnosis of the majority of patients. Primary care physicians may need to be more aware HH and strategies for diagnosis.
Abstract There is considerable research to define novel and safe adjuvants for use in vaccine formulations. Here, we focused on a gel-slurry delivery method to drive pro-inflammatory vaccine-specific responses using CpGs as adjuvant. The gel slurry hardens at body temperature, forming a gel matrix depot that releases CpGs and antigen, attracting antigen presenting cells. We vaccinated mice with recombinant Hepatitis B antigen using 8 different adjuvant schemes comparing induction of cytokines and antibody subtypes. We compared delivery using two different gel-slurrys with Alhydrogel (Alum) and Complete Freunds adjuvant (CFA). Each was mixed +/- CpGs. Mice vaccinated with gel slurry plus CpGs had significantly higher vaccine-specific antibody responses than mice vaccinated with antigen and CFA. Recall assays showed cells from mice vaccinated with Alhydrogel or CFA upregulated IL-10 at 72h compared to cells from gel-slurry + CpG vaccinated mice. Similar results were seen for IL-4. CpG use reduced levels of IL-5 to background in all groups compared to elevated levels in CFA. No differences in levels of IFNg and TNF. We are currently assaying for Ag-specific antibody isotype titers. The use of gel slurry plus CpGs to deliver vaccine antigens should have great utility for a number of vaccine formulations. Ultimately, this type of vaccine delivery system may facilitate development of therapeutic vaccines as well as prophylactic.
Toxic ingestions are an increasing concern among pediatric patients in the United States. Less common, but troubling, are those patients with persistent toxicity symptoms despite stabilization, resuscitative, and decontamination efforts. We report a case of refractory serotonin toxicity in an adolescent for whom endoscopic removal of medication remnants led to the resolution of his clinical course. A 14-year-old male patient with anxiety and depression, treated with escitalopram and clonidine, presented to an outside hospital (OSH) emergency department (ED) with tonic-clonic seizure activity and altered mental status. Non-contrast head computed tomography (CT), complete blood count, and basic metabolic panel were unrevealing. Repeated seizure activity that occurred in the OSH ED prompted transfer to a tertiary pediatric care facility for ongoing management. Based on the constellation of symptoms (tachycardia, muscle rigidity, and lower extremity clonus) and his medication history, there was concern for serotonin toxicity. His clinical course worsened, despite treatment with midazolam and cyproheptadine, requiring intubation for respiratory failure. Because of his refractory symptoms and concern for ongoing medication side effects, on hospital day 4, he underwent an esophagogastroduodenoscopy (EGD), which revealed 20 partially digested pills firmly adhered to the gastric mucosa. The pill fragments were removed and whole bowel irrigation was started, and the patient improved rapidly, allowing for extubation within 24 hours. An EGD is not routinely used for the management of toxic ingestions. In addition to this case, evidence from prior case reports supports the judicious use of EGD as a diagnostic and therapeutic decontamination modality for severe toxicities.
Background: Every year, approximately 250,000 women die of cervical cancer, a preventable disease. Nearly 90% of those deaths occur in developing countries. Incidence and mortality rates of cervical cancer in developed countries have decreased approximately 80% since the Pap smear was incorporated into the public health system and regular screening was recommended. The success of this system has not been experienced in developing countries and as a result, the burden of cervical cancer disproportionately affects women with the fewest resources to treat it.
Objectives: The primary aim of this thesis is to conduct a literature review to identify barriers and facilitators to cervical cancer screening in developing countries. Secondly, the researcher is an intern with the nonprofit organization, Basic Health International (BHI). In an effort to improve the low screening rates in El Salvador, one of the countries where BHI works, the researcher proposes a study to identify the barriers and facilitators to cervical cancer screening for women in rural El Salvador.
Methods: The researcher used the University of Pittsburgh Health Sciences Library including PubMed, and EBSCO to search for literature on this topic. Relevant articles included
those published between 1995 and 2012, addressing barriers and facilitators to cervical cancer screening in developing countries.
Results: Twenty-two articles were chosen for review based on the specified exclusion and inclusion criteria. The articles were analyzed using the Social Ecological Model and geographic region. The majority of the literature addressed individual level factors that affect screening behavior of women in developing countries.
Conclusions: The literature search revealed that there are multiple levels and channels through which public health professionals can intervene, while the individual level factors paint a picture of who is least likely to be screened. In looking forward, there is a possibility of targeting women for intervention using these profiles. Furthermore, the public health relevance of the literature search is that it emphasizes the role that culture plays on health behaviors, and the importance of identifying the barriers and facilitators to cervical cancer screening in a population.
The use of ultrasound-guided regional anesthesia is growing as a modality for analgesia provision within the pediatric emergency department. We present a case in which a paravenous saphenous nerve block was used for anesthesia during incision and drainage of a lower extremity abscess. We further review the technique and literature concerning this straightforward and effective procedure.
Objective Older people with multiple sclerosis (MS) have a less active radiological and clinical presentation, but many still attain significant levels of disability; but what drives worsening disability in this group? Methods We used data from the UK MS Register to characterize demographics and clinical features of late‐onset multiple sclerosis (LOMS; symptom onset at ≥50 years), compared with adult‐onset MS (AOMS; onset 18–49 years). We performed a pathology study of a separate MS cohort with a later onset (n = 18, mean age of onset 54 years) versus AOMS (n = 23, mean age of onset 29 years). Results In the Register cohort, there were 1,608 (9.4%) with LOMS. When compared with AOMS, there was a lower proportion of women, a higher proportion of primary progressive MS, a higher level of disability at diagnosis (median MS impact scale 36.7 vs. 28.3, p < 0.001), and a higher proportion of gait‐related initial symptoms. People with LOMS were less likely to receive a high efficacy disease‐modifying treatment and attained substantial disability sooner. Controlling for age of death and sex, neuron density in the thalamus and pons decreased with onset‐age, whereas actively demyelinating lesions and compartmentalized inflammation was greatest in AOMS. Only neuron density, and not demyelination or the extent of compartmentalized inflammation, correlated with disability outcomes in older‐onset MS patients. Interpretation The more progressive nature of older‐onset MS is associated with significant neurodegeneration, but infrequent inflammatory demyelination. These findings have implications for the assessment and treatment of MS in older people. ANN NEUROL 2024;95:471–486
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