Benjamin L. Hamel's research while affiliated with Mayo Clinic - Rochester and other places

The patient is an otherwise healthy two-month-old boy who received the recommended vaccinations for his age group, which included the rotavirus pentavalent vaccine (RV5; RotaTeq) at his two-month well child visit. Three days later, he developed prolonged non-bloody diarrhea and was found to have persistently positive rotavirus antigen in his stool. Subsequent workup revealed mild defects in his functional T-cell immunocompetence. Genetic testing was obtained through the Invitae panel and was negative for hereditary forms of primary immunodeficiencies. The rotavirus antigen was found to have cleared from his stool around four months after receiving the RV5. Unfortunately, the source of the rotavirus infection was unable to be determined. The caregivers had misconceptions about the vaccine and the child's immune system function which led to refusal of any further vaccinations. Healthcare providers should strive to develop honest and respectful relationships with parents to have thoughtful dialogues regarding vaccine safety and efficacy.

The PAX1 gene plays an important role in the development of the parathyroid glands and the thymus. Mouse knockout models of PAX1, PAX3, and PAX9 have been found to have hypoplastic or absent parathyroid glands. To our knowledge, there are no reported cases of PAX1-associated hypoparathyroidism in humans. We present a case of hypoparathyroidism in a 23-month-old boy with a homozygous pathogenic variant in the PAX1 gene ( PAX1 NM_006192.5 c.463_465del variant), predicted to cause an in-frame deletion of asparagine at position 155 (p.Asn155del) of the PAX1 protein. The hypoparathyroidism was unmasked after the patient developed significant hypocalcemia while receiving GoLYTELY (polyethylene glycol 3350, sodium sulfate anhydrous, sodium bicarbonate, sodium chloride, potassium chloride) for bowel cleanout. The patient had mild and asymptomatic hypocalcemia prior to hospitalization. The patient was noted to have inappropriately normal parathyroid hormone (PTH) level at the time of documented hypocalcemia thereby suggesting a diagnosis of hypoparathyroidism. Plain language summary The first human case of hypoparathyroidism associated with a rare genetic disorder: a case report of PAX1 gene mutation The paired box ( PAX) gene family is important for embryo development. One subfamily, PAX1, is necessary for development of the spinal column, thymus (important for the immune system development), and parathyroid (helps regulate the amount of calcium in the body). We present the case of a 23-month-old boy with known PAX1 gene mutation who came in with episodes of vomiting and poor growth. His presentation was thought to be most likely related to constipation. He was started on bowel cleanout medication and intravenous fluids. However, his calcium that had been mildly low subsequently dropped to very low levels. The level of parathyroid hormone (which helps regulate calcium levels) was inappropriately normal, meaning that his body was unable to make more, and was consistent with hypoparathyroidism. He was treated with calcium supplements and vitamin D and calcium levels normalized. He continues to be on calcium and vitamin D and calcium levels have remained stable. Doctors should keep this complication in mind when treating patients with PAX1 gene mutation.

Objective: Examine cochlear implant (CI) users' ability to identify safety-relevant environmental sounds, imperative for safety, independence, and personal well-being. Methods: Twenty-one experienced adult CI users completed an Environmental Sound Identification (ESI) test consisting of 42 common environmental sounds, 28 of which were relevant to personal safety, along with 14 control sounds. Prior to sound identification, participants were shown sound names and asked to rate the familiarity and, separately, relevance to safety of each corresponding sound on a 1-5 scale. Results: Overall ESI accuracy was 57% correct for the safety-relevant sounds and 55% correct for control sounds. Participants rated safety-relevant sounds as more important to safety and more familiar than the non-safety sounds. ESI accuracy significantly correlated with familiarity ratings. Conclusion: The present findings suggest mediocre ESI accuracy in postlingual adult CI users for safety-relevant and other environmental sounds. Deficits in the identification of these sounds may put CI listeners at increased risk of accidents or injuries and may require a specific rehabilitation program to improve CI outcomes. Level of evidence: 4 Laryngoscope, 2022.

Objectives: Existing cochlear implant (CI) outcomes research demonstrates a high degree of variability in device effectiveness among experienced CI users. Increasing evidence suggests that verbal learning and memory (VL&M) may have an influence on speech recognition with CIs. This study examined the relations in CI users between visual measures of VL&M and speech recognition in a series of models that also incorporated spectro-temporal discrimination. Predictions were that (1) speech recognition would be associated with VL&M abilities and (2) VL&M would contribute to speech recognition outcomes above and beyond spectro-temporal discrimination in multivariable models of speech recognition. Methods: This cross-sectional study included 30 adult postlingually deaf experienced CI users who completed a nonauditory visual version of the California Verbal Learning Test-Second Edition (v-CVLT-II) to assess VL&M, and the Spectral-Temporally Modulated Ripple Test (SMRT), an auditory measure of spectro-temporal processing. Participants also completed a battery of word and sentence recognition tasks. Results: CI users showed significant correlations between some v-CVLT-II measures (short-delay free- and cued-recall, retroactive interference, and "subjective" organizational recall strategies) and speech recognition measures. Performance on the SMRT was correlated with all speech recognition measures. Hierarchical multivariable linear regression analyses showed that SMRT performance accounted for a significant degree of speech recognition outcome variance. Moreover, for all speech recognition measures, VL&M scores contributed independently in addition to SMRT. Conclusion: Measures of spectro-temporal discrimination and VL&M were associated with speech recognition in CI users. After accounting for spectro-temporal discrimination, VL&M contributed independently to performance on measures of speech recognition for words and sentences produced by single and multiple talkers. Level of evidence: 3 Laryngoscope, 2022.