Role of primary care in the follow-up of patients with obstructive sleep apnoea undergoing CPAP treatment: a randomised controlled trial.

OBJECTIVE: To evaluate whether follow-up of patients with obstructive sleep apnoea (OSA) undergoing CPAP treatment could be performed in primary care (PC) settings. DESIGN: Non-inferiority, randomised, prospective controlled study. SETTINGS: Sleep unit (SU) at the University Hospital and in 8 PC units in Lleida, Spain. PARTICIPANTS: Patients with OSA were randomised to be followed up at the SU or PC units over a 6-month period. MAIN OUTCOMES MEASURED: The primary outcome was CPAP compliance at 6 months. The secondary outcomes were Epworth Sleep Scale (ESS) score, EuroQoL, patient satisfaction, body mass index (BMI), blood pressure and cost-effectiveness. RESULTS: We included 101 patients in PC ((mean±SD) apnoea-hypopnoea index (AHI) 50.8±22.9/h, age 56.2±11 years, 74% male) and 109 in the SU (AHI 51.4±24.4/h, age 55.8±11 years, 77% male)). The CPAP compliance was (mean (95% CI) 4.94 (4.47 to 5.5) vs 5.23 (4.79 to 5.66) h, p=0.18) in PC and SU groups, respectively. In the SU group, there were greater improvements in ESS scores (mean change 1.79, 95% CI +0.05 to +3.53, p=0.04) and patient satisfaction (-1.49, 95% CI -2.22 to -0.76); there was a significant mean difference in BMI between the groups (0.57, 95% CI +0.01 to +1.13, p=0.04). In the PC setting, there was a cost saving of 60%, with similar effectiveness, as well as a decrease in systolic blood pressure (-5.32; 95% CI -10.91 to +0.28, p=0.06). CONCLUSIONS: For patients with OSA, treatment provided in a PC setting did not result in worse CPAP compliance compared with a specialist model and was shown to be a cost-effective alternative. TRIAL REGISTRATION NUMBER: Clinical Trials NCT01918449.

Adaptive behaviour in Angelman syndrome: its profile and relationship to age.

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder usually caused by an anomaly in the maternally inherited chromosome 15. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioural phenotype that reportedly includes happy disposition, attraction to/fascination with water and hypermotoric behaviour. METHOD: We studied the level of adaptive behaviour and the adaptive behavioural profile in the areas of 'motor skills', 'language and communication', 'personal life skills' and 'community life skills' in a group of 25 individuals with genetically confirmed AS, to determine whether there is a specific adaptive behaviour profile. RESULTS AND CONCLUSIONS: None of the individuals, whatever their chronological age, had reached a developmental age of 3 years. A specific adaptive behaviour profile was found, with 'personal life skills' emerging as relative strengths and 'social and communication skills' as weaknesses.

[Malama project in the Region of Murcia (Spain): environment and breastfeeding]. / Proyecto Malama en la Región de Murcia (España): medio ambiente y lactancia materna.

OBJECTIVES: To identify protective factors and risk factors for the initiation and length of breastfeeding and full breastfeeding, in the Region of Murcia (Spain). PATIENTS AND METHODS: The Malama study (Medio Ambiente y Lactancia Materna) is a follow up study from birth up to years of 1,000 mother-child pairs. A description of breastfeeding practices are presented here, the survival curve of breastfeeding and a Cox regression model of the pilot study that includes 101 mother-child pairs and 6 months of follow-up. RESULTS: After six months the prevalence of breastfeeding was 35 %. The mean duration of full breastfeeding was 63 days (median 45 days) with six months prevalence of 8 %. Hazard ratios (HR) for full breastfeeding were, to be a smoker (1.89; 95 % CI: 1.18-3.02), older than 35 years of age (2.04; 95 % CI: 1.22-3.42), caesarean birth (1.63; 95 % CI: 1.00-2.66). As well as those previously mentioned risks for breastfeeding, there were also hazard ratios for primary school education or less (1.63; 95 % CI: 0.98-2.82); to have breastfed an earlier child for at least 16 weeks (0.33; 95 % CI: 0.13-0.79), and to be the first birth (0.50; 95 % CI: 0.27-0.95). The length of both breastfeeding and full breastfeeding increased with the length of the maternal leave (0.96; 95 % CI: 0.94-0.99). Pregestational occupational exposure to endocrine disruptors did not seem to interfere with the duration of breastfeeding. CONCLUSIONS: In order to improve quality and duration of breastfeeding programmes, paediatric research and training on breastfeeding practice should be encouraged, to reduce unnecessary caesarean sections, promote tobacco cessation, focus human and economic resources to women with less education, and include legal mechanisms to ensure longer maternal leave.

Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.

beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences.

[Mental deficiency preceded by transitory hypertonic cerebral motor disorder]. / Deficiencia mental precedida de trastorno motor cerebral hipertónico transitorio.

OBJECTIVE: To analyse clinical and outcome features of patients with mental retardation and transient hypertonia in early life which lead to the diagnosis of hypertonic cerebral palsy. MATERIAL AND METHODS: We study six patients that presented with the above features in our neuropediatric out patients clinic. Clinical data related with the hypertonic signs and its evolution were collected. All the patients were assessed to find their present cognitive and development state. RESULTS: Clinical and radiological signs of a possible prenatal neurological damage were found in all the patients. Structural anomalies were presented in neuroimaging in five cases. Agenesia or hypoplasia of corpus callosum was the most common finding. The pattern of progression of this cases were: 1. Improvement of hypertonia with almost normal tone by the age of two years. 2. Despite of the resolution of motor signs, persistence of different degrees of mental retardation. CONCLUSIONS: Our reported patients presented a peculiar pattern of progression within the wide variability of the cerebral palsy group.

[Type I glutaric acidity with arachnoidal cysts]. / Aciduria glutárica tipo I con quistes aracnoideos.

Two sisters are shown who have been diagnosed as having glutaric acidity (GA) type I, in the neuroimage of which bilateral arachnoidal cysts were shown. There is a remarkable lack of correlation between the clinical status of the patients and the arachnoidal cysts. The younger sister developed the first symptoms of her illness at around 5 years of age, whereas the cysts had already been diagnosed at the age of one. It was considered convenient to doubt the diagnosis of type I GA, given the presence of bilateral or familiar arachnoidal cysts, despite the lack of symptoms.

Bioactivity of the essential oil of Bupleurum fruticosum.

The essential oil of Bupleurum fruticosum was investigated qualitatively and quantitatively together with the anti-inflammatory activity of the whole essential oil and its major components. In addition, antispasmodic activity was determined in rat uterus preparations using acetylcholine and oxytocin as agonists. The anti-inflammatory activity shown by the essential oil can be attributed in part to the two major components, alpha-pinene and beta-pinene, although the presence of thymol and carvacrol, minor components capable of potentiating the action of these hydrocarbons, was also confirmed.

Diagnosis of brucellosis by using blood cultures.

The performances of three blood culture systems, Hemoline performance diphasic medium (bioMérieux, Marcy l'Etoile, France), Bactec Plus Aerobic/F* (Becton Dickinson, Paramus, N.J.), and Vital Aer (bioMérieux), were compared for the diagnosis of 17 cases of brucellosis. By using a 5-day incubation protocol, positive results were 52.9, 82.4, and 11.8%, respectively. When the protocol was extended to 7 days, the results were 76.5, 94.1, and 47.1%, respectively. Bactec was the fastest system (P < 0.05).

Performance of six culture media for isolation of Salmonella species from stool samples.

The relative performance of five plating media [Rambach agar; salmonella-shigella (SS) agar, novobiocin-brilliant green-glycerol-lactose (NBGL), modified semisolid Rappaport-Vassiliadis medium (MSRV), and Salmonella Detection and Identification-2 (SM2)] and selenite broth (SB) subcultured in SS agar in the recovery of Salmonella spp. from 500 human stool specimens was evaluated. On Rambach agar and SS agar, the C8-esterase test was also used for selection of suspicious colonies. Eighty-one samples were positive for salmonellae on at least one of the six media. Sensitivities and specificities of MSRV, SB, NBGL, SS, Rambach agar, and SM2 were 95.1 and 98.1%, 87.6 and 99.8%, 79 and 91.9%, 69.1 and 99.3%, 56.8 and 96.9%, and 54.3 and 92.4%, respectively. There were statistically significant differences between MSRV and NBGL, Rambach agar, SS agar, and SM2 (p < 0.005), between SB and SS agar, Rambach agar, and SM2 (p < 0.05), and between NBGL and SM2 and Rambach agar (p < 0.005). The greatest number of isolates was recovered with MSRV, whose performance surpassed that of enrichment in selenite broth, probably because the subcultures were not repeated on MSRV. This hypothesis is now under investigation. The specificity of each of the five solid media was greater than 90%.

Comparison of five plating media for isolation of Salmonella species from human stools.

A comparative study was carried out to evaluate the performances of different culture media for the recovery of Salmonella spp. from 1,000 routine samples of human stools. By direct plating we tested Salmonella-Shigella agar (SS), Hektoen enteric agar (HE), bismuth sulfite agar (BS), novobiocin-brilliant green-glycerol-lactose agar (NBGL) and SM-ID medium (SM), and after selenite enrichment, we tested all of the media except HE. C8-esterase and oxidase tests were used for the screening of Salmonella spp. on SS and HE. The total number of Salmonella isolates from direct culture was 74, with respective sensitivities and positive predictive values (PPVs) of 78.4 and 61%, 64.9 and 18.7%, 36.5 and 34.2%, 55.4 and 20.7%, and 39.2 and 43.9% for NBGL, SS, HE, BS, and SMID, respectively. After enrichment, the total number of Salmonella isolates was 88. The respective sensitivities and PPVs obtained were 90.9 and 62.5%, 92 and 17%, 90.9 and 32% and 93.2 and 71.3% for NBGL, SS, BS, and SM, respectively. According to our results, NBGL in direct plating was the medium with the highest sensitivity with respect to the sensitivities of the other media, with significant statistical differences (P < 0.05). Likewise, the PPV for NBGL was also the highest (61%). After enrichment in selenite broth, the sensitivities of the four media tested were similar, with the best PPV obtained with SM (71.3%); this was followed by NBGL (62.5%). When C8-esterase was used on SS or HE, the PPVs improved from less than 40% to about 100%.