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Bardet-Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in Bbs4 or Bbs18. We find that BBS patients have a higher prevalence of certain autoimmune diseases. Both BBS patients and animal models have altered red blood cell and platelet compartments, as well as elevated white blood cell levels. Some of the hematopoietic system alterations are associated with BBS-induced obesity. Moreover, we observe that the development and homeostasis of B cells in mice is regulated by the transport complex BBSome, whose dysfunction is a common cause of BBS. The BBSome limits canonical WNT signaling and increases CXCL12 levels in bone marrow stromal cells. Taken together, our study reveals a connection between a ciliopathy and dysregulated immune and hematopoietic systems.

Bardet-Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by dysfunction of primary cilia. The immune system of patients with BBS or another ciliopathy has not been investigated, most likely because hematopoietic cells do not form cilia. However, there are multiple indications that the impairment of the processes typically associated with cilia might influence the hematopoietic compartment and immunity. In this study, we analyzed clinical data of BBS patients as well as a corresponding mouse model of BBS4 deficiency. We uncovered that BBS patients have higher incidence of certain autoimmune diseases. BBS patients and animal models have elevated white blood cell levels and altered red blood cell and platelet compartments. Moreover, we observed that BBS4 deficiency alters the development and homeostasis of B cells in mice. Some of the hematopoietic system alterations were caused by the BBS-induced obesity. Overall, our study reveals a connection between a ciliopathy and the alterations of the immune system and the hematopoietic compartment.

Bardet–Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. Nineteen disease-causing genes (BBS1–19) have been identified, of which mutations in BBS1 are most common in North America and Europe. A hallmark of the disease, renal malformation is heterogeneous and is a cause of morbidity and mortality through the development of CKD. We studied the prevalence and severity of CKD in 350 patients with Bardet–Biedl syndrome–related renal disease attending the United Kingdom national Bardet–Biedl syndrome clinics to further elucidate the phenotype and identify risk indicators of CKD. Overall, 31% of children and 42% of adults had CKD; 6% of children and 8% of adults had stage 4–5 CKD. In children, renal disease was often detected within the first year of life. Analysis of the most commonly mutated disease-associated genes revealed that, compared with two truncating mutations, two missense mutations associated with less severe CKD in adults. Moreover, compared with mutations in BBS10, mutations in BBS1 associated with less severe CKD or lack of CKD in adults. Finally, 51% of patients with available ultrasounds had structural renal abnormalities, and 35% of adults were hypertensive. The presence of structural abnormalities or antihypertensive medication also correlated statistically with stage 3b–5 CKD. This study describes the largest reported cohort of patients with renal disease in Bardet–Biedl syndrome and identifies risk factors to be considered in genetic counseling.

ContextBardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome.ObjectiveWe describe the endocrine and metabolic characteristics of a large BBS population compared with matched control subjects.DesignWe performed a case-control study.SettingThis study was performed at a hospital clinic.PatientsStudy patients had a clinical or genetic diagnosis of BBS.Main Outcome MeasurementsOur study determined the prevalence of a metabolic syndrome in our cohort.ResultsA total of 152 subjects were studied. Eighty-four (55.3%) were male. Mean (± standard deviation) age was 33.2 ± 1.0 years. Compared with age-, sex-, and body mass index–matched control subjects, fasting glucose and insulin levels were significantly higher in subjects with BBS (glucose: BBS, 5.2 ± 1.2 mmol/L vs control, 4.9 ± 0.9 mmol/L, P = 0.04; insulin: BBS, 24.2 ± 17.0 pmol/L vs control, 14.2 ± 14.8 pmol/L, P < 0.001). Serum triglycerides were significantly higher in subjects with BBS (2.0 ± 1.2 mmol/L) compared with control subjects (1.3 ± 0.8 mmol/L; P < 0.001), but total cholesterol, high-density lipoprotein, and low-density lipoprotein were similar in both groups. Systolic blood pressure was higher in the BBS group (BBS, 135 ± 18 mm Hg vs control subjects, 129 ± 16 mm Hg; P = 0.02). Alanine transaminase was raised in 34 (26.8%) subjects with BBS, compared with five (8.9%) control subjects (P = 0.01). The rate of metabolic syndrome, determined using International Diabetes Federation criteria, was significantly higher in the BBS group (54.3%) compared with control subjects (26% P < 0.001). Twenty-six (19.5%) of male subjects with BBS were hypogonadal (serum testosterone, 9.9 ± 5.3 mmol/L), but significant pituitary abnormalities were uncommon. Subclinical hypothyroidism was present in 24 of 125 (19.4%) patients with BBS, compared with 3 of 65 (4.6%) control subjects (P = 0.01).ConclusionsInsulin resistance and the metabolic syndrome are increased in adult patients with BBS compared with matched control subjects. Increased subclinical hypothyroidism in the BBS cohort needs further investigation.

Background Parents of infants hospitalized in the neonatal intensive care unit (NICU) frequently need guidance to prepare them for the care and health promotion of their child after hospital discharge. The health literacy of the parents should be considered so that education can be tailored to meet their needs. It is also important to understand the parents' preferences for how, and from whom, they receive education. Purpose The purpose of this study was to identify health literacy levels of parents of infants in an NICU and preferences for who they want to provide them with education. Methods An exploratory, descriptive design was used to assess participant health literacy and preferences for obtaining child health information. Only mothers (no fathers) with babies in the NICU were available to complete the survey. Mean participant age was 26.4 years (SD = 6.7). Results Participants had a mean Rapid Estimate of Adult Literacy in Medicine, Revised, score of 5.64 (SD = 2.4), indicating a low level of health literacy. Questions regarding when to administer medication were correctly answered by 69% of participants. Proper medication dosage was understood by 92% of participants; however, only 30% were able to correctly convert measurements. One-on-one discussions with a physician were the preferred source of health information for 80% of participants. Implications for practice/research The current exploratory study provides new information that will help inform the development of future studies and increase awareness of nurses regarding health literacy and the specific types of skills for which parents need the most help.

The implementation of the Research Champions program was an effective strategy to increase the confidence of direct care nurses in research skills, a goal for staff development educators. Postprogram questionnaires conducted at 12 months assessed participants' confidence in specific areas: critique of research manuscripts, comprehension of research statistics, knowledge of the ethics of research, and using research in practice. Data supported that participants' confidence increased in all areas assessed.

Social bees have a diverse fauna of symbiotic mesostigmatic mites, including highly pathogenic parasites of the honeybee, but there are few reports of Mesostigmata phoretic on or inhabiting the nests of solitary or communal, ground-nesting bees. In south-eastern Australia, however, native bees in the family Halictidae carry what appears to be a substantial radiation of host-specific mesostigmatans in the family Laelapidae. Herein, we redescribe the obscure genus Raymentia , associated with Lasioglossum (Parasphecodes ) spp. bees (Halictidae) and describe two new species, R. eickwortiana from L. lacthium (Smith) and R. walkeriana from L. atronitens (Cockerell). The type species, R. anomala Womersley, is associated with L. altichum (Smith). In addition, we review the mites known to be associated with Australian bees, provide a key to differentiate them, and describe and illustrate acarinaria of the Halictinae. We also report on the first occurrences in Australia of the genera Trochometridium Cross (Heterostigmata: Trochometridiidae), from L. eremaean Walker (Halictidae), and Cheletophyes Oudemans (Prostigmata: Cheyletidae) from Xylocopa Latreille (Xylocopinae), and on the previously unknown association between a Neocypholaelaps Vitzthum (Mesostigmata: Ameroseiidae) and Lipotriches tomentifera (Friese) (Halictidae).

A tone complex made of harmonic components that are added in cosine‐starting phase can be discriminated from complexes comprised of identical harmonics that are added with random‐starting phases. Phase discrimination occurs when unresolved harmonics interact within a single auditory channel. When harmonics are resolved, there is less interaction among components resulting in poorer phase discrimination performance. Thus, phase discrimination indirectly reflects spectral resolvability. Performance in a phase discrimination task was measured in chinchillas and human listeners to compare spectral resolvability between the two groups. Subjects discriminated a cosine‐phase tone complex from random‐phase tone complexes in a go/no‐go behavioral paradigm. Tone complexes were comprised of a 250‐Hz fundamental frequency and N consecutive higher harmonics, where N was 5, 10, 20, and 40. Performance was evaluated in terms of d’. The results show that the measured d’ increased as N increased, and values of d’ for each...