The number of food-insecure individuals with diabetes is on the rise. FOODRx is a supplemental healthy food intervention program that gave disease-appropriate food boxes to food-insecure patients ...with diabetes at their care clinic and included nutrition and recipe materials in the patient’s preferred language (English, Spanish, or Somali). Implemented over a twelve-month period, we analyze FOODRx participants’ pre and post clinical measures, health care usage, and program/clinic satisfaction, and found that participation was linked to post improvements in fasting glucose and HgbA1c levels, reductions in ER visits and healthcare costs, and a decline in patients choosing between medication and food. Glucose levels decreased from 214 to 187 mg/dL and HgbA1c levels decreased from 9.6% to 9.1%. Average ER visits dropped from 1.21 to 1 visit and the reductions in healthcare costs were reflected in a decrease of an average of USD 250,000 in insurance claims. Patients were less likely to experience food insecurity, as measured in number of meals skipped and levels of hunger. Finally, the program improved patient satisfaction with the cultural responsiveness of the information shared with them.
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, ...growth retardation and cystinuria type I. While the initially described HCS families live in small regions in Belgium and France, we have now identified HCS alleles in patients and carriers from the Netherlands, Italy, Canada and United States of America. Surprisingly, among the nine deletions detected in those patients, only one novel deletion was found. Furthermore, one previously described deletion was found six times, another twice. Finally, we have investigated the frequency of both deletions using a random Belgian cohort. Given the global occurrence, HCS should be considered in the differential diagnosis of neonatal hypotonia.
Neonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, ...heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.
The clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed.
Clinical DES identified potentially relevant findings in 25 patients (37.9%). The majority of patients had structural anomalies such as birth defects, dysmorphic features, cardiac, craniofacial, and skeletal defects. The average time for clinical rapid testing was 8 days.
Our observations demonstrate the utility of family-based exome sequencing in neonatal patients, including familial cosegregation analysis and comprehensive medical review.
Research in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been ...little systematic research on the experiences of children and adults with RDs in the American healthcare system that identifies commonalities across RDs. This research aimed to: (1) Describe demographics, disease characteristics, diagnostic experiences, access to healthcare, knowledge about RDs, support from healthcare professionals, and patient satisfaction among people with RDs and their caregivers; (2) examine predictors of patient satisfaction among adults with RDs; (3) compare health-related quality of life and stigma to US population norms; 4) examine predictors of anxiety and depression among adults and children with RDs.
This large-scale survey included (n = 1128) adults with RD or parents or caregivers of children with RDs representing 344 different RDs. About one third of participants waited four or more years for a diagnosis and misdiagnosis was common. A subset of participants reported experiencing insurance-related delays or denials for tests, treatments, specialists, or services. Approximately half of participants felt their medical and social support was sufficient, yet less than a third had sufficient dental and psychological support. Patients were generally neither satisfied or dissatisfied with their healthcare providers. Major predictors of satisfaction were lower stigma, lower anxiety, shorter diagnostic odyssey, greater physical function, and less pain interference. Adults and children with RDs had significantly poorer health-related quality of life and stigma in all domains compared to US norms. Predictors of both anxiety and depression were greater stigma/poor peer relationships, fatigue, sleep disturbance, limited ability to participate in social roles, and unstable disease course.
People in the U.S. with RDs have poor health-related quality of life and high stigma. These factors are related to patient satisfaction and healthcare access, including diagnostic delays and misdiagnosis. Advocacy work is needed in order to improve healthcare access and ultimately health-related quality of life for children and adults with RDs.
Mutations in the
GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We ...hypothesized that
GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of
GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for
GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense and splicing mutations. Second, among the frameshift/nonsense mutations, there was a clear genotype-phenotype correlation. Mutations in the first third of the gene (from open reading frame ORF nucleotides nt 1–1997) caused GCPS, and mutations in the second third of the gene (from ORF nt 1998–3481) caused primarily PHS. Surprisingly, there were 12 mutations in patients with GCPS in the 3′ third of the gene (after ORF nt 3481), and no patients with PHS had mutations in this region. These results demonstrate a robust correlation of genotype and phenotype for
GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.
The molecular basis for several hereditary disorders of connective tissues has been elucidated in recent years. In this chapter, we discuss recent advances in the molecular characterization of a ...number of these disorders and examine their clinical applications.
We report the cDNA sequence for the bovine gene for fibrillin corresponding to the human gene, fibrillin 1 (FBN1), and the localization of the gene to bovine chromosome 10 (syntenic group U5). The ...identity between the human and bovine sequences is 97.8% at the amino acid level and 92% at the nucleotide level. The bovine fibrillin sequence contains the same number and type of motifs as the human FBN1 sequence, including the same number of putative calcium binding sites. All of the motifs conform to the patterns demonstrated in the human sequence, and many of the differences in identity between the sequences are conservative.
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