A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).

Abstract:

BACKGROUND:Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations. METHODS:We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their genotype. RESULTS:We identified 14 CF patients within a 23-year period, corresponding to a cumulative incidence of 1:3012 births, being three of them born from consanguineous unions. Genetic analysis revealed three CFTR genotypes: p.[Ser4Ter];[Gln1100Pro] was present in one patient with a less severe phenotype (1/14); c.[120del23];p.[Phe508del], a very rare one (2/14); and p.[Phe508del];[Phe508del] in the remaining patients (11/14). Clinically, respiratory infections (8/14) and growth failure (6/14) were the most common initial manifestations. All patients presented pancreatic dysfunction, with 21.4 and 100% of them showing endocrine and exocrine insufficiency, respectively. As expected, patients with severe phenotype were homozygous for p.Phe508del and had the lowest value of body mass index. CONCLUSIONS:The present study demonstrated that São Miguel Island has an increased incidence of CF when compared to recent Portuguese data (1:7500 live births). It also allowed a comprehensive overview of CF in São Miguel, improving medical practice along with genetic counselling and creating opportunities for genotype-targeted therapies.

journal_name

BMC Pediatr

journal_title

BMC pediatrics

authors

Rosa J,Gaspar-Silva P,Pacheco P,Silva C,Branco CC,Vieira BS,Carreiro A,Gonçalves J,Mota-Vieira L

doi

10.1186/s12887-019-1903-y

subject

Has Abstract

pub_date

2020-01-03 00:00:00

pages

2

issue

1

issn

1471-2431

pii

10.1186/s12887-019-1903-y

journal_volume

20

pub_type

杂志文章
  • Evaluation of the Family Integrated Care model of neonatal intensive care: a cluster randomized controlled trial in Canada and Australia.

    abstract:BACKGROUND:Admission to the neonatal intensive care unit (NICU) may disrupt parent-infant interaction with adverse consequences for infants and their families. Several family-centered care programs promote parent-infant interaction in the NICU; however, all of these retain the premise that health-care professionals sho...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1186/s12887-015-0527-0

    authors: O'Brien K,Bracht M,Robson K,Ye XY,Mirea L,Cruz M,Ng E,Monterrosa L,Soraisham A,Alvaro R,Narvey M,Da Silva O,Lui K,Tarnow-Mordi W,Lee SK

    更新日期:2015-12-15 00:00:00

  • Negative exploration for pyloric stenosis--is it preventable?

    abstract:BACKGROUND:The diagnosis of infantile hypertrophic pyloric stenosis (IHPS), although traditionally clinical, is now increasingly dependent on radiological corroboration. The rate of negative exploration in IHPS has been reported as 4%. The purpose of our study was to look at elements of supportive clinical evidence lea...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/1471-2431-8-37

    authors: Mullassery D,Mallappa S,Shariff R,Craigie RJ,Losty PD,Kenny SE,Pilling D,Baillie CT

    更新日期:2008-09-24 00:00:00

  • Macronutrient content of pooled donor human milk before and after Holder pasteurization.

    abstract:BACKGROUND:Donor human milk (DHM) is the best alternative for preterm infants when their own mother's milk is unavailable. DHM should be pasteurized to guarantee microbiological safety; however, this process can influence the macronutrient content. The aim of this study was to investigate the effect of Holder pasteuriz...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-019-1427-5

    authors: Piemontese P,Mallardi D,Liotto N,Tabasso C,Menis C,Perrone M,Roggero P,Mosca F

    更新日期:2019-02-12 00:00:00

  • The Preschool Activity, Technology, Health, Adiposity, Behaviour and Cognition (PATH-ABC) cohort study: rationale and design.

    abstract:BACKGROUND:Prevalence estimates internationally suggest that many preschool-aged children (3-5 years) are insufficiently physically active and engage in high levels of screen-based entertainment. Early childhood is the developmental period for which we know the least about the effects of physical activity on developmen...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-017-0846-4

    authors: Cliff DP,McNeill J,Vella S,Howard SJ,Kelly MA,Angus DJ,Wright IM,Santos R,Batterham M,Melhuish E,Okely AD,de Rosnay M

    更新日期:2017-04-04 00:00:00

  • Clinical, etiological and antimicrobial susceptibility profile of pediatric urinary tract infections in a tertiary care hospital of Nepal.

    abstract:BACKGROUND:Urinary tract infection (UTI) is one of most common pediatric infections. The study was designed to assess the clinical profile, common bacterial microorganisms causing UTI and their antimicrobial susceptibility patterns at B. P. Koirala Institute of Health Sciences (BPKIHS) hospital. METHODS:This is a pros...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-019-1410-1

    authors: Shrestha LB,Baral R,Poudel P,Khanal B

    更新日期:2019-01-29 00:00:00

  • SPORTS STARS study protocol: a randomised, controlled trial of the effectiveness of a physiotherapist-led modified sport intervention for ambulant school-aged children with cerebral palsy.

    abstract:BACKGROUND:Modified sport interventions run by physiotherapists have shown potential as cost-effective, engaging, and effective interventions to improve gross motor skills and support transition to real-world sports participation for children with cerebral palsy. At present, this population demonstrates decreased parti...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12887-018-1190-z

    authors: Clutterbuck GL,Auld ML,Johnston LM

    更新日期:2018-08-02 00:00:00

  • Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study.

    abstract:BACKGROUND:Mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans). Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of u...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/1471-2431-5-9

    authors: Wegrzyn G,Kurlenda J,Liberek A,Tylki-Szymanska A,Czartoryska B,Piotrowska E,Jakóbkiewicz-Banecka J,Wegrzyn A

    更新日期:2005-05-09 00:00:00

  • Parental decision making involvement and decisional conflict: a descriptive study.

    abstract:BACKGROUND:Decisional conflict is a state of uncertainty about the best treatment option among competing alternatives and is common among adult patients who are inadequately involved in the health decision making process. In pediatrics, research shows that many parents are insufficiently involved in decisions about the...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-017-0899-4

    authors: Boland L,Kryworuchko J,Saarimaki A,Lawson ML

    更新日期:2017-06-13 00:00:00

  • A multicenter, randomized, open-label, active-comparator trial to determine the efficacy, safety, and pharmacokinetics of intravenous ibuprofen for treatment of fever in hospitalized pediatric patients.

    abstract:BACKGROUND:Oral antipyretics are commonly used to treat pediatric patients who develop fevers. However, patients presenting to the emergency department or undergoing surgery are frequently unable to tolerate oral antipyretics. Rectal formulations are available; however, this route of administration is unpredictable. Th...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1186/s12887-017-0795-y

    authors: Khalil SN,Hahn BJ,Chumpitazi CE,Rock AD,Kaelin BA,Macias CG

    更新日期:2017-02-01 00:00:00

  • Diagnostic performance of individual characteristics and anthropometric measurements in detecting elevated serum alanine aminotransferase among children and adolescents.

    abstract:BACKGROUND:Screening for elevated serum alanine aminotransferase (ALAT) can help identifying individuals at the risks of chronic and metabolic diseases, but blood collection is invasive and cannot be widely used for investigations. Considered as simple and inexpensive screening indices, individual characteristics and a...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-020-02033-9

    authors: Ou YL,Lai YR,Jiang CN,Zhang J,Ding Z

    更新日期:2020-03-20 00:00:00

  • Development of rhabdomyolysis in a child after norovirus gastroenteritis.

    abstract:BACKGROUND:In children, the most significant cause of rhabdomyolysis or muscle breakdown is viral infection. However, there are no reports that norovirus, a gastroenteric virus that commonly infects children, specifically causes rhabdomyolysis. Here, we report the first pediatric case of norovirus-associated rhabdomyol...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-016-0720-9

    authors: Nishio T,Yonetani R,Ito E,Yoneta M,Maruo Y,Yoshida T,Sugimoto T

    更新日期:2016-11-04 00:00:00

  • Brain biomarkers and pre-injury cognition are associated with long-term cognitive outcome in children with traumatic brain injury.

    abstract:BACKGROUND:Children with traumatic brain injury (TBI) are frequently at risk of long-term impairments of attention and executive functioning but these problems are difficult to predict. Although deficits have been reported to vary with injury severity, age at injury and sex, prognostication of outcome remains imperfect...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1186/s12887-017-0925-6

    authors: Wilkinson AA,Dennis M,Simic N,Taylor MJ,Morgan BR,Frndova H,Choong K,Campbell C,Fraser D,Anderson V,Guerguerian AM,Schachar R,Hutchison J,Canadian Critical Care Trials Group (CCCTG).,Canadian Critical Care Translational Biolo

    更新日期:2017-07-24 00:00:00

  • Unusual presentation of angiomyomatous hamartoma in an eight-month-old infant: case report and literature review.

    abstract:BACKGROUND:Evaluation of palpable neck masses may be a diagnostic problem in pediatric patients, with differential diagnosis including congenital, inflammatory, tumoral and traumatic lesions. Ultrasonography is usually a satisfactory method to make a correct pre-operative evaluation of neck masses, although diagnosis i...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,评审

    doi:10.1186/1471-2431-12-172

    authors: Catania VD,Manzoni C,Novello M,Lauriola L,Coli A

    更新日期:2012-11-06 00:00:00

  • Assessment of atropine-sufentanil-atracurium anaesthesia for endotracheal intubation: an observational study in very premature infants.

    abstract:BACKGROUND:Premedication before neonatal intubation is heterogeneous and contentious. The combination of a short acting, rapid onset opioid with a muscle relaxant is considered suitable by many experts. The purpose of this study was to describe the tolerance and conditions of intubation following anaesthesia with atrop...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/1471-2431-14-120

    authors: Durrmeyer X,Dahan S,Delorme P,Blary S,Dassieu G,Caeymaex L,Carbajal R

    更新日期:2014-05-07 00:00:00

  • Neonatal mortality in the neonatal intensive care unit of Debre Markos referral hospital, Northwest Ethiopia: a prospective cohort study.

    abstract:BACKGROUND:Neonatal mortality remains a serious global public health problem, but Sub-Saharan Africa (SSA), in particular, is largely affected. Current evidence on neonatal mortality is essential to inform programs and policies, yet there is a scarcity of information concerning neonatal mortality in our study area. The...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-020-1963-z

    authors: Alebel A,Wagnew F,Petrucka P,Tesema C,Moges NA,Ketema DB,Yismaw L,Melkamu MW,Hibstie YT,Temesgen B,Bitew ZW,Tadesse AA,Kibret GD

    更新日期:2020-02-15 00:00:00

  • Challenges to and opportunities for the adoption and routine use of early warning indicators to monitor pediatric HIV drug resistance in Kenya.

    abstract:BACKGROUND:Pediatric non-adherence to antiretroviral therapy (ART), loss to follow-up, and HIV drug resistance (HIVDR) are challenges to achieving UNAIDS' targets of 90% of those diagnosed HIV-positive receiving treatment, and 90% of those receiving treatment achieving viral suppression. In Kenya, the pediatric populat...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-018-1209-5

    authors: Pilgrim NA,Okal J,Matheka J,Mukui I,Kalibala S

    更新日期:2018-07-25 00:00:00

  • Potential effects of valproate and oxcarbazepine on growth velocity and bone metabolism in epileptic children- a medical center experience.

    abstract:BACKGROUND:Children with longstanding use of antiepileptic drugs (AEDs) are susceptible to developing low bone mineral density and an increased fracture risk. However, the literature regarding the effects of AEDs on growth in epileptic children is limited. The aim of this study was to investigate the potential effects ...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-016-0597-7

    authors: Lin CM,Fan HC,Chao TY,Chu DM,Lai CC,Wang CC,Chen SJ

    更新日期:2016-05-03 00:00:00

  • Enteral vitamin A for reducing severity of bronchopulmonary dysplasia in extremely preterm infants: a randomised controlled trial.

    abstract:BACKGROUND:Intramuscular vitamin A supplementation decreases the risk of bronchopulmonary dysplasia (BPD) in very-low-birth-weight preterm infants without significant adverse effects. However, intramuscular vitamin A supplementation is not widely accepted because of the discomfort and risk of trauma associated with rep...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12887-017-0958-x

    authors: Rakshasbhuvankar A,Patole S,Simmer K,Pillow JJ

    更新日期:2017-12-16 00:00:00

  • A qualitative study reporting maternal perceptions of the importance of play for healthy growth and development in the first two years of life.

    abstract:BACKGROUND:In order for infants and toddlers to meet recommended movement guidelines, their caregivers need to encourage play daily. This study used a qualitative approach to understand how mothers perceive and promote play and physical activity during the first 2 years of life. METHODS:Mothers with children between 0...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-020-02321-4

    authors: Prioreschi A,Wrottesley SV,Slemming W,Cohen E,Norris SA

    更新日期:2020-09-09 00:00:00

  • Is nutritional support needed in late preterm infants?

    abstract:BACKGROUND:Late preterm birth accounts for 70 % of all preterm births. While the impact of feeding problems in very preterm infants has been widely investigated, data on late preterm infants' feeding issues are scarce. The aim of the present study was to investigate the need of nutritional support during hospital stay ...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-015-0511-8

    authors: Giannì ML,Roggero P,Piemontese P,Liotto N,Orsi A,Amato O,Taroni F,Morlacchi L,Consonni D,Mosca F

    更新日期:2015-11-23 00:00:00

  • Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial.

    abstract:BACKGROUND:Insufficient elastin synthesis leads to vascular complications and arterial hypertension in children with Williams-Beuren syndrome. Restoring sufficient quantity of elastin should then result in prevention or inhibition of vascular malformations and improvement in arterial blood pressure. METHODS:The aim of...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12887-019-1544-1

    authors: Kassai B,Bouyé P,Gilbert-Dussardier B,Godart F,Thambo JB,Rossi M,Cochat P,Chirossel P,Luong S,Serusclat A,Canterino I,Mercier C,Rabilloud M,Pivot C,Pirot F,Ginhoux T,Coopman S,Grenet G,Gueyffier F,Di-Fillippo S,Be

    更新日期:2019-05-28 00:00:00

  • Seasonal variation in haematological and biochemical reference values for healthy young children in The Gambia.

    abstract:BACKGROUND:Haematological and biochemistry reference values for children are important for interpreting clinical and research results however, differences in demography and environment poses a challenge when comparing results. The study defines reference intervals for haematological and biochemistry parameters and exam...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-016-0545-6

    authors: Okebe J,Mwesigwa J,Agbla SC,Sanya-Isijola F,Abubakar I,D'Alessandro U,Jaye A,Bojang K

    更新日期:2016-01-11 00:00:00

  • A systematic review of the psychometric properties of Quality of Life measures for school aged children with cerebral palsy.

    abstract:BACKGROUND:This systematic review aimed to evaluate the psychometric properties and clinical utility of all condition specific outcome measures used to assess quality of life (QOL) in school aged children with cerebral palsy (CP). METHODS:Relevant outcome measures were identified by searching 8 electronic databases, s...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,评审

    doi:10.1186/1471-2431-10-81

    authors: Carlon S,Shields N,Yong K,Gilmore R,Sakzewski L,Boyd R

    更新日期:2010-11-09 00:00:00

  • Childhood injuries and food stamp benefits: an examination of administrative data in one US state.

    abstract:BACKGROUND:Currently in the United States, childhood injuries are the leading cause of mortality and morbidity, resulting in an estimated 9.2 million emergency department visits and $17 billion annually in medical costs. For preschoolers, it is also the leading cause of disability. METHODS:We use linked administrative...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-020-02084-y

    authors: Heflin CM,Arteaga I,Ndashimye JF,Rabbitt MP

    更新日期:2020-06-17 00:00:00

  • Factors associated with asthma among under-fives in Mulago hospital, Kampala Uganda: a cross sectional study.

    abstract:BACKGROUND:Asthma is the most common chronic childhood illness, with rapidly increasing prevalence in low-income countries. Among young children, asthma is often under-diagnosed.We investigated the factors associated with asthma among under-fives presenting with acute respiratory symptoms at Mulago hospital, Uganda. M...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/1471-2431-13-141

    authors: Nantanda R,Ostergaard MS,Ndeezi G,Tumwine JK

    更新日期:2013-09-11 00:00:00

  • End-user perspectives to inform policy and program decisions: a qualitative and quantitative content analysis of lifestyle treatment recommendations by adolescents with obesity.

    abstract:BACKGROUND:Lifestyle modifications represent the first line of treatment in obesity management; however, many adolescents with obesity do not meet lifestyle recommendations. Given that adolescents are rarely consulted during health policy development and in the design of lifestyle interventions, their first-hand experi...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-019-1749-3

    authors: Kebbe M,Perez A,Buchholz A,McHugh TF,Scott SD,Richard C,Dyson MP,Ball GDC

    更新日期:2019-11-08 00:00:00

  • Comparison of antibiotic and acyclovir usage before and after the implementation of an on-site FilmArray meningitis/encephalitis panel in an academic tertiary pediatric hospital: a retrospective observational study.

    abstract:BACKGROUND:Prompt initiation of empiric therapy is common practice in case of suspected meningitis or encephalitis. However, in children the most common pathogens are viruses that usually do not require and are not covered by the applied anti-infective treatment. Novel multiplex PCR (mPCR) panels provide rapid on-site ...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/s12887-020-1944-2

    authors: Hagen A,Eichinger A,Meyer-Buehn M,Schober T,Huebner J

    更新日期:2020-02-05 00:00:00

  • Subacute sclerosing panencephalitis: results of the Canadian Paediatric Surveillance Program and review of the literature.

    abstract:BACKGROUND:Subacute Sclerosing Panencephalitis (SSPE) is so rare in developed countries with measles immunization programs that national active surveillance is now needed to capture sufficient number of cases for meaningful analysis of data. Through the Canadian Paediatric Surveillance Program (CPSP), the SSPE study wa...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,评审

    doi:10.1186/1471-2431-5-47

    authors: Campbell C,Levin S,Humphreys P,Walop W,Brannan R

    更新日期:2005-12-15 00:00:00

  • Television viewing in Thai infants and toddlers: impacts to language development and parental perceptions.

    abstract:BACKGROUND:Effects of television to language development in infants and toddlers, especially in the Asian children, are inconclusive. This study aimed to (a) study time spent on television in Thai infants and toddlers (age < 2 years), (b) investigate the association between time spent on television (as recommended by t...

    journal_title:BMC pediatrics

    pub_type: 杂志文章

    doi:10.1186/1471-2431-9-34

    authors: Ruangdaraganon N,Chuthapisith J,Mo-suwan L,Kriweradechachai S,Udomsubpayakul U,Choprapawon C

    更新日期:2009-05-22 00:00:00

  • Treating extravasation injuries in infants and young children: a scoping review and survey of UK NHS practice.

    abstract:BACKGROUND:Extravasation injuries are caused by unintended leakages of fluids or medicines from intravenous lines but there is no consensus on the best treatment approaches, particularly in infants and young children. METHODS:This paper presents a more succinct account of a study of treatments for extravasation injuri...

    journal_title:BMC pediatrics

    pub_type: 杂志文章,评审

    doi:10.1186/s12887-018-1387-1

    authors: Corbett M,Marshall D,Harden M,Oddie S,Phillips R,McGuire W

    更新日期:2019-01-07 00:00:00