OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

3‐M syndrome is an autosomal recessive disorder characterized by severe pre‐ and postnatal growth retardation and minor skeletal changes. We have previously identified CUL7 as a disease‐causing gene but we have also provided evidence of genetic heterogeneity in the 3‐M syndrome. By homozygosity mapping in two inbred families, we found a second disease locus on chromosome 2q35–36.1 in a 5.2‐Mb interval that encompasses 60 genes. To select candidate genes, we performed microarray analysis of cultured skin fibroblast RNA from one patient, looking for genes with altered expression; we found decreased expression of IGFBP2 and increased expression of IGFBP5. However, direct sequencing of these two genes failed to detect any anomaly. We then considered other candidate genes by their function/location and found nine distinct mutations in the OBSL1 gene in 13 families including eight nonsense and one missense mutations. To further understand the links between OBSL1, CUL7, and insulin‐like growth factor binding proteins (IGFBPs), we performed real‐time quantitative PCR (RT‐PCR) analysis for OBSL1, CUL7, IGFBP2, and IGFBP5, using cultured fibroblast RNAs from two patients with distinct OBSL1 mutations (p.F697G; p.H814RfsX15). We found normal CUL7 mRNA levels but abnormal IGFBP2 and IGFBP5 mRNA levels in the two patients, suggesting that OBSL1 modulates the expression of IGFBP proteins. Hum Mutat 30:1–7, 2009. © 2009 Wiley‐Liss, Inc.     

Opinions of families,staff, and patients about family participation in care in intensive care units

PurposeThe aims of the study were to assess opinions of caregivers, families, and patients about involvement of families in the care of intensive care unit (ICU) patients; to evaluate the prevalence of symptoms of anxiety and depression in family members; and to measure family satisfaction with care.Materials and MethodsBetween days 3 and 5, perceptions by families and ICU staff of family involvement in care were collected prospectively at a single center. Family members completed the Hospital Anxiety and Depression Scale (HADS) and a satisfaction scale (Critical Care Family Needs Inventory). Nurses recorded care provided spontaneously by families. Characteristics of patient-relative pairs (n = 101) and ICU staff (n = 45) were collected. Patients described their perceptions of family participation in care during a telephone interview, 206 ± 147 days after hospital discharge.ResultsThe numbers of patient-relative pairs for whom ICU staff reported favorable perceptions were 101 (100%) of 101 for physicians, 91 (90%) for nurses, and 95 (94%) for nursing assistants. Only 4 (3.9%) of 101 families refused participation in care. Only 14 (13.8%) of 101 families provided care spontaneously. The HADS score showed symptoms of anxiety in 58 (58.5%) of 99 and of depression in 26 (26.2%) of 99 family members. The satisfaction score was high (11.0 ± 1.25). Among patients, 34 (77.2%) of 44 had a favorable perception of family participation in care.ConclusionsFamilies and ICU staff were very supportive of family participation in care. Most patients were also favorable to care by family members.     

Immediate and short-term effects of phototherapy on pain,muscle activity,and joint mobility in women with temporomandibular disorder: a randomized,double-blind,placebo-controlled,clinical trial

Objectives: The aim of the present study was to evaluate the immediate and short-term effects of phototherapy on pain intensity, the pressure pain threshold (PPT), maximum vertical mandibular movement, and the electrical activity of the masseter and temporal muscles in women with temporomandibular disorder (TMD).

Methods: Sixty women were randomly allocated to four different groups and submitted to phototherapy with a combination of super-pulsed laser (905?nm), red (640?nm), and infrared (875?nm) light emitting diodes in the same equipment on the masseter (three points) and temporal (two points) muscles bilaterally in a single session. The following doses were used in each point of application: Group 1 – 2.62 J; Group 2 – 5.24 J; Group 3 – 7.86 J; placebo group. Pain intensity was determined using the visual analog scale. The PPT was analyzed using a digital algometer. Vertical mandibular movement was measured using digital calipers. Myoelectrical activity of the masseter and temporal muscles was measured using electromyography. Four evaluations were performed: pre-intervention, immediately after, 24 and 48?hours after phototherapy.

Outcomes: A significant reduction in pain intensity during the post-treatment evaluations in comparison to the pretreatment evaluation was observed in group 1 (Median difference?=?2.60 [95% CI?=?1.35–3.85]) and group 2 (Median difference?=?2.2 [95% CI?=?0.98–3.42]) especially after 48?hours and group 3 (Median difference?=?2.50 [95% CI: 0.56–4.46]) especially after 24?hours, with a moderate effect size, but no effect was found regarding the other variables.

Conclusions: A single session of combined phototherapy was capable of reducing pain intensity in individuals patients with TMD.

ClinicalTrials.gov (NCT02018770).

• Implications for Rehabilitation

• Phototherapy device combining two light sources (LED and laser), and different densities in the same device is a novelty in the rehabilitation market, and has proved to be a useful intervention for people with temporomandibular disorders.

• This mode of phototherapy is another option that assists in the rapid intervention in pain symptoms, promoting a considerable degree of comfort to the patient moments after its application.

     

Quality of life after a stay in the intensive care unit

The study of quality of life is a critical indicator in evaluating the care of patients in intensive care. This must be measured to detect signs of psychological and physical sequelae and adapt patient support accordingly.     

A continuous quality-improvement program reduces nosocomial infection rates in the ICU

Objective To assess the impact of a continuous quality-improvement program on nosocomial infection rates.Design and setting Prospective single-center study in the medical-surgical ICU of a tertiary care center.Patients We admitted 1764 patients during the 5-year study period (1995–2000); 55% were mechanically ventilated and 21% died. Mean SAPS II was 37±21 points and mean length of ICU stay was 9.7±16.1 days.Interventions Implementation of an infection control program based on international recommendations. The program was updated regularly according to infection and colonization rates and reports in the literature.Measurements and results Prospective surveillance showed the following rates per 1000 procedure days: ventilator-associated pneumonia (VAP) 8.7, urinary tract infection (UTI) 17.2, central venous catheter (CVC) colonization 6.1, and CVC-related bacteremia and2.0; arterial catheter colonization did not occur. In the 5 years following implementation of the infection control program there was a significant decline in the rate per patient days of UTI, CVC colonization, and CVC-related bacteremia but not VAP. Between the first and second 2.5-year periods the time to infection increased significantly for UTI and CVC-related colonization.Conclusions A continuous quality-improvement program based on surveillance of nosocomial infections in a nonselected medical-surgical ICU population was associated with sustained decreases in UTI and CVC-related infections.Electronic Supplementary Material Supplementary material is available in the online version of this article at .     

Ability of family members to predict patient's consent to critical care research

Objective

A European Union Directive provides for the designation of a surrogate who can consent to or refuse inclusion of an incapacitated patient in research studies. The accuracy with which surrogates consent to research on behalf of patients has not been evaluated in the intensive care unit (ICU).

Methods

A prospective multicenter study was conducted in ten ICUs of the French Famirea study group between July and October 2004. Two hypothetical studies were simultaneously submitted to the patient, surrogate, and physician at the time that the patient was discharged to a ward. One study involved minimal risk and the other greater-than-minimal risk to the patients.

Results

With the minimal risk study there was patient-surrogate discrepancy in 32% of cases and patient-physician discrepancy in 25%. Corresponding figures with the greater-than-minimal risk study were 42% and 46%. None of the collected variables differed significantly between cases with and without patient-surrogate discrepancy.

Conclusions

Family members designated to serve as surrogate decision makers may fail to accurately consent to research for critically ill patients in one-third to nearly one-half of cases.