Publications by authors named "Daniel V DiGiacomo"
Health-related quality of life (HRQoL) measures individual well-being across physical, psychological, and social domains. Patients with predominantly antibody deficiency (PAD) are at risk for morbidity and mortality, however, the effect of these complications on HRQoL requires additional study. Patients with PAD were asked to voluntarily complete the Centers for Disease Control (CDC) HRQoL-14 Healthy Days Measure questionnaire.
View Article and Find Full Text PDFHealth-related quality of life (HRQoL) measures individual well-being across physical, psychological, and social domains. Patients with predominantly antibody deficiency (PAD) are at risk for morbidity and mortality, however, the effect of these complications on HRQoL requires additional study. Patients with PAD were asked to voluntarily complete the Centers for Disease Control (CDC) HRQoL-14 Healthy Days Measure questionnaire.
View Article and Find Full Text PDFBackground: An adequate understanding of the relationship between breast-feeding practices and infant food allergy is essential for clinicians. Although there is evidence of an education gap in general breast-feeding concepts, little is known about the pediatric trainee knowledge and practice with regard to breast-feeding, maternal diet, and potential allergy outcomes.
Objective: To assess pediatric residents' knowledge, describe practices, and evaluate a module designed to provide evidence-based education about breast-feeding, food allergy, and food avoidance to inform future resources on the topic of breast-feeding and allergic outcomes.
Article Synopsis
- - Myhre syndrome is a rare genetic disorder linked to mutations in the SMAD4 gene, with recent studies from Massachusetts General Hospital highlighting its complexities through evaluations of 47 patients.
- - The findings indicate that symptom progression occurs in all patients after at least 5 years of observation, with different SMAD4 variants associated with varying health outcomes, particularly regarding hearing loss and aortic hypoplasia.
- - There is a call for more research and evidence-based guidelines to improve understanding and treatment of Myhre syndrome, especially given the serious complications observed, including deaths related to cardiovascular issues.
Article Synopsis
- Patients with predominantly antibody deficiency (PAD) initially produce lower anti-SARS-CoV-2 spike antibodies after their first two vaccine doses compared to healthy individuals; however, their responses to subsequent vaccinations require further research.
- A study analyzed anti-spike antibody levels in 117 adults with PAD and 192 healthy controls after up to 5 vaccine doses, looking specifically at antibody responses and neutralization effectiveness against different SARS-CoV-2 variants.
- While individuals with severe PAD showed greater increases in antibody levels with more vaccinations, overall, all PAD patients experienced improved anti-spike antibodies, which correlated with their ability to neutralize the virus strains.
Background: Predominantly antibody deficiency (PAD) is associated with noninfectious inflammatory gastrointestinal disease. Population estimates of celiac disease (CeD) risk in those with PAD are limited.
Objective: To estimate population risk of PAD in individuals with CeD.
Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet's- and inflammatory bowel disease (IBD)-like disorder termed "deficiency in ELF4, X-linked" (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses.
View Article and Find Full Text PDFBackground: Racial and ethnic disparities in life expectancy in the United States have been widely documented. To date, there remains a paucity of similar data in patients with inborn errors of immunity (IEIs).
Objective: Our aim was to examine racial and ethnic differences in mortality due to an IEI in the United States.
Data regarding response to SARS-CoV-2 immunization in pediatric patients with predominantly antibody deficiency (PAD) is limited. We evaluated SARS-CoV-2 immunization response by anti-SARS-CoV-2-spike antibody level in 15 pediatric PAD patients. These data were compared to a published cohort of adult PAD patients (n=62) previously analyzed following SARS-CoV-2 immunization at our single center institution.
View Article and Find Full Text PDFUnlabelled: PURPOSE : Predominant antibody deficiency (PAD) disorders, including common variable immunodeficiency (CVID), have been linked to increased risk of gastrointestinal infections and inflammatory bowel diseases. However, there are limited data on the relationship between PAD, specifically CVID, and risk of microscopic colitis (MC).
Methods: We performed a nationwide case-control study of Swedish adults with MC diagnosed between 1997 and 2017 (n = 13,651).
Article Synopsis
- Nodular regenerative hyperplasia (NRH) significantly affects patients with common variable immunodeficiency (CVID), leading to severe health issues, and liver biopsy is currently the standard method for diagnosing NRH.
- A study using ultrasound-based transient elastography (TE) showed that CVID patients with NRH exhibited much higher liver stiffness compared to those without NRH and a control group with non-alcoholic fatty liver disease (NAFLD).
- The research found that while specific histopathologic features of NRH did not correlate with liver stiffness, increased liver stiffness was linked to clinical signs of portal hypertension, indicating that TE could help in early detection and management of NRH in CVID patients.
Article Synopsis
- Patients with predominant antibody deficiency (PAD) exhibit a significantly lower antibody response to SARS-CoV-2 vaccines compared to healthy controls, especially those with severe PAD conditions.
- Factors contributing to poor immune response include low levels of specific T and B cells, and prior B-cell depletion therapy.
- Administering an additional dose of mRNA vaccine significantly boosts antibody levels in PAD patients, indicating potential for improved immunity.
Objectives: Early-onset colorectal cancer (CRC) incidence rates are rising. This group is susceptible to heritable conditions (i.e.
View Article and Find Full Text PDFObjectives: Clinical inference suggests the prevalence of non-celiac gluten sensitivity is substantially higher than that of celiac disease in the USA. Unfortunately, there are currently no data supporting these claims. The authors analyzed nationally representative data to estimate the prevalence of adherence to a gluten-free diet among participants without celiac disease and also to characterize the demographics and general health status of these participants.
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