Garcia-Patterson A.,Servei dEndocrinologia i Nutricio |
Aulinas A.,Servei dEndocrinologia i Nutricio |
Sojo L.,Servei dEndocrinologia i Nutricio |
Ginovart G.,Servei de Pediatria |
And 3 more authors.
Diabetic Medicine | Year: 2011
Aims To assess perinatal outcome in women with pregestational diabetes mellitus according to the sex of the fetus. Methods A retrospective review of all singleton pregnancies of women with pregestational diabetes progressing to a gestational age of 22weeks or more who attended the diabetes and pregnancy clinic from 1981 to 2006 (n=455). We compared maternal characteristics and perinatal outcomes (perinatal mortality, major congenital malformations, small and large for gestational age newborns, preterm birth and a composite of the former) according to the sex of the fetus. A logistic regression analysis was performed using the composite perinatal outcome as the dependent variable and all maternal variables and sex of fetus as potential predictors. Results Maternal characteristics did not differ in mothers of male and female newborns. In the whole cohort, the composite perinatal outcome was significantly higher in male fetuses; adjusted OR 1.61 (95%CI1.04-2.50). Conclusions In women with pregestational diabetes, perinatal outcome was poorer in male newborns despite similar maternal characteristics. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.
Martin-Campos J.M.,Biomedical Research Institute Sant Pau |
Martin-Campos J.M.,CIBER ISCIII |
Roig R.,Biomedical Research Institute Sant Pau |
Roig R.,Hospital Of La Santa Creu I Sant Pau |
And 13 more authors.
Clinica Chimica Acta | Year: 2012
Background: Familial hypobetalipoproteinemia (FHBL), characterized by extremely low levels of plasma apolipoprotein (apo) B and cholesterol associated with low-density lipoproteins (LDLc), is considered to be an autosomal co-dominant disorder of heterogeneous origin. The main genetic disorder associated with FHBL consists of mutations in the APOB gene, while other less frequent forms are associated with mutations in NPC1L1, PCSK9, a still unidentified gene in 3p21.1-22 and, more recently, in ANGPTL3. Methods: We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB. The entire coding region and intron-exon boundaries of the ANGPTL3 gene were amplified and sequenced. Results: Two probands were positive for the same frameshift mutation, a deletion of 5. bp in codon 121 in ANGPTL3, which produces a truncated protein of 122 residues. This mutation in homozygosis was associated in both families with combined hypolipidemia, characterized by low plasma apoB, low total, LDL and HDL cholesterol and low triglycerides. Conclusion: We confirm the existence of a new phenotype of FHBL, denominated familial combined hypolipidemia, which consist of a biochemical phenotype of low LDLc, low apoB, low TG and, unlike APOB mutations, low HDL cholesterol, due to a loss-of-function mutation in ANGPTL3. © 2011 Elsevier B.V.
Rajmil L.,Agencia de Qualitat i Avaluacio Sanitaries de Catalonia AQuAS |
Rajmil L.,IMIM Institute Hospital del Mar dInvestigacions MediquesBarcelona |
Rajmil L.,CIBER ISCIII |
Robles N.,Agencia de Qualitat i Avaluacio Sanitaries de Catalonia AQuAS |
And 5 more authors.
Anales de Pediatria | Year: 2015
Abstract Objectives To describe the preferences to complete questionnaires via the internet by schoolchildren, as well as to analyze the attitude towards the use of internet to communicate with health professionals. Methods Cross-sectional study of a school population in Palafolls (Barcelona, n = 923) was conducted in October and November 2013. Participants completed both internet and paper versions on a single school day, in random order, and with at least an interval of 2 hours. Preferences to answer internet vs paper version were recorded, along with the willingness to share information with health professionals. Percentages of use preferences and attitudes were estimated, and logistic regression models were fitted to analyze the association with the preferences and willingness to share information with health professionals. Results Participation rates were 77% (n = 715), of whom 42.4% (38.7 to 46.0) preferred the internet version, and 20.6% (17.6 to 23.6) the paper version. Older children (odds ratio [OR] = 0.89, 0.84 to 0.95 for age), and those from families with secondary school (OR = 0.63, 0.43 to 0.93), and university degree (OR = 0.61, 0.38 to 0.97) were less likely to prefer the internet version, while boys (OR = 1.55, 1.10 to 2.16) and those children reporting sedentary habits (OR = 1.78, 1.06 to 3.0) were more likely to prefer the internet version. Those scoring higher quality of life (OR = 1.03, 1.01-1.05) and not reporting sedentary habits (OR = 0.33, 0.15 to 0.73) were factors associated with a positive attitude to share information with health professionals. Conclusions Younger children prefer to use the internet. Although Internet use is very widespread, it is less used to communicate with health professionals. © 2014 Asociación Española de Pediatría.
Lujan M.,Hospital Of Sabadell |
Lujan M.,Autonomous University of Barcelona |
Lujan M.,CIBER ISCIII |
Gallardo X.,Servei de Diagnostic per la Imatge |
And 5 more authors.
BioMed Research International | Year: 2013
Purpose. To establish the prevalence of bronchiectasis in asthma in relation to patients' oral corticosteroid requirements and to explore whether the increased risk is due to blood immunoglobulin (Ig) concentration. Methods. Case-control cross-sectional study, including 100 sex- and age-matched patients, 50 with non-steroid-dependent asthma (NSDA) and 50 with steroid-dependent asthma (SDA). Study protocol: (a) measurement of Ig and gG subclass concentration; (b) forced spirometry; and (c) high-resolution thoracic computed tomography. When bronchiectasis was detected, a specific etiological protocol was applied to establish its etiology. Results. The overall prevalence of bronchiectasis was 12/50 in the SDA group and 6/50 in the NSDA group (p=ns). The etiology was documented in six patients (four NSDA and two SDA). After excluding these patients, the prevalence of bronchiectasis was 20% (10/50) in the SDA group and 2/50 (4%) in the NSDA group (P<0.05). Patients with asthma-associated bronchiectasis presented lower FEV1 values than patients without bronchiectasis, but the levels of Ig and subclasses of IgG did not present differences. Conclusions. Steroid-dependent asthma seems to be associated with a greater risk of developing bronchiectasis than non-steroid-dependent asthma. This is probably due to the disease itself rather than to other influencing factors such as immunoglobulin levels. © 2013 Manel Luján et al.
Six-month-old infant with Listeria monocytogenes meningitis. Do we have to think of other diagnoses? [Lactant de 6 mesos amb meningitis per Listeria monocytogenes. Hem de pensar en alguna altra cosa?]
Vila J.D.,Servei de Pediatria |
Lobato Salinas Z.,Servei de Pediatria |
Muixi Rosset J.M.,Servei de Pediatria |
Martin Mateos M.A.,Hospital Sant Joan Of Deu |
And 2 more authors.
Pediatria Catalana | Year: 2014
Introduction. The global incidence of listeriosis has increased in Europe in the last decades. Listeria monocytogenes meningitis is rare except during the neonatal period, and among pregnant women, elderly, and immunosuppressed patients. A thorough immunological evaluation should be performed when those specific conditions are not present. Case report. We report the case of a 6-month-old infant with a diagnosis of L. monocytogenes meningitis. The presence of lymphopenia, a T-B+NK- immunophenotype, and male sex led to the diagnosis of X-linked severe combined immunodeficiency. Discussion. Although the death rate from Listeria meningitis is under 10%, this infection can result in severe sequelae that require close neurological and neuroimaging follow-up. In a pediatric patient being diagnosed with L. monocytogenes meningitis outside of the neonatal period, immunology evaluation should be performed. The diagnosis of a severe combined immunodeficiency is a medical emergency that requires a high level of clinical suspicion; early diagnosis has a major impact on outcome. Survival of patients with severe combined immunodeficiency depends on expeditious stem cell reconstitution with hematopoietic stem cell transplantation. Gene therapy is a promising alternative in selected cases.
Garcia Gonzalez M.M.,Servei de Pediatria |
Calvo M.,Servei de Pediatria |
Villalobos P.,Servei de Pediatria |
Schneider S.,Servei de Pediatria |
And 4 more authors.
Pediatria Catalana | Year: 2010
Introduction. Congenital ichthyosis, which presents as collodion baby, is a very rare disorder. In our national collaborative study of congenital malformations (ECEMC) only one out of more than 100.000 newborns is diagnosed as having congenital ichthyosis. Case report. We describe the case of a trasient collodion baby who, despite the prominent clinical findings at birth, had a bening course. Comments. The differential diagnosis of possible clinical disorders that can manifest as collodion baby in the perinatal period is discussed. Molecular genetic studies are also reviewed.
Castillo Y.,Servei de Pediatria |
Castillo Y.,Fundacio Hospital Of Nens Of Barcelona |
Huguet R.,Fundacio Hospital Of Nens Of Barcelona |
Diaz A.,Servei de Pediatria |
And 3 more authors.
Pediatria Catalana | Year: 2014
Introduction: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease of unknown etiology that usually occurs in early childhood and is characterized by multifocal bone involvement with subacute or chronic clinical course and remission periods. It comes as a separate entity or as part of a syndrome with skin lesions (SAPHO syndrome). The bone lesions mimic an acute osteomyelitis, but microbiological studies are negative. The treatment of choice is with non-steroidal anti-inflammatory drugs. Case report: We report the case of a 7-year-old male who presented with pain, itching, and swelling of the second finger of the right hand for 13 days. A plain X-ray showed osteolytic changes in the middle and proximal phalanges without joint involvement. Blood tests were significant for an elevated ESR, and Tc-99 bone scintigraphy showed multiple bone lesions with intense osteogenic response. The lack of response to antibiotics, the negative cultures, and the nonspecific findings in the multiple bone biopsies suggested the diagnosis of CRMO. Treatment with ibuprofen was started, with improvement in pain, erythema, and edema of the finger, leading to complete resolution. Comments: The diagnosis of CRMO is made based on the compatible clinical and radiological findings, once neoplastic and infectious etiologies have been ruled out by histological and microbiological examination of bone biopsy. Bone scintigraphy is the most sensitive radiological method for diagnosis, as it may reveal asymptomatic lesions and also lesions not seen on plain X-ray.
Correa A.C.N.,Servei de Pediatria |
Mejias J.L.G.,Seccio dUrgencies
Pediatria Catalana | Year: 2011
Introduction. Hand-foot-mouth disease (HFMD) is a common childhood contagious enteroviral infection of clinical diagnosis and self-limited clinical course. The occurrence of onychomadesis in fingernails and toenails several weeks after the resolution of HFMD was reported recently. Clinical observation. We describe two children with history of HFMD who presented with onychomadesis more than 4 weeks later; the fingernails and the toenails were involved in one case each. There was no history of infection or trauma, and there were no signs of inflammation. Comments. HFMD is a viral infectious disease caused mainly by two serotypes of enterovirus species A, coxsackievirus A16 (CVA16), and enterovirus 71 (EV71). Between 2000 and 2009 several outbreaks of HFMD followed by onychomadesis have been reported in different countries. This association must be recognized in order to make the correct diagnosis, and to inform the patients and their families of the self-limited and benign course.
Novoa A.,Servei de Pediatria |
Azon A.,Hospital Universitari Sant Joan
Pediatria Catalana | Year: 2012
Background. Lichen striatus is a benign dermatosis that affects children of a wide age range; it has peak incidence in preschool years, and a predilection for females. It affects mostly the extremities and it is typically unilateral. The distinctive clinical feature is its distribution along the Blaschko lines. These clinical features enable the diagnosis without the need for additional studies. Case report. We report a 5-month-old male infant whose parents described a rash of 3 weeks duration that affected the right forearm and the chest. Prior to consultation the infant was treated with moisturizers without significant improvement. Upon evaluation, the typical appearance and distribution prompted the diagnosis of lichen striatus. Comments. Lichen striatus is a dermatological disease with characteristic clinical features that mainly affects children between 3 months and 15 years of age. Given its self-limited and uncomplicated course, it only requires clinical follow-up until resolution, which occurs between 3 and 24 months. The pediatrician must be familiar with these characteristic features so that an appropriate diagnosis can be made, and its clinical behavior as benign, self-limited disease, can be explained to the parents.
Roquer J.M.,Servei de Pediatria |
Sarrat R.,Servei de Pediatria |
Lozano M.,Servei de Pediatria
Pediatria Catalana | Year: 2013
Introduction. The diagnostic criteria and terminology that characterize Poland's syndrome vary in the different published series. Anomaly, sequence or malformation complex are some of the other terms used. Acknowledging the existence of different family cases in which some patients show the complete anomaly while others only the isolated hypoplasia of the pectoralis muscle suggests this latter form to be a monotypic variant of the syndrome. Case reports. We report two cases of absence of the left chest muscle diagnosed at puberty (patient 1: agenesis of the pectoralis major and patient 2: hypoplasia of the pectoralis major and minor muscles) with homolateral absence of axillary hair as the only associated malformation. Comments. Historically, the existence of a series of oversights and lack of accuracy may have contributed to confused diagnosis and terminology. The fact that family cases with different degrees of involvement, some of which only show hypoplasia of the pectoralis muscle, have been described and the evidence that all the malformations shown by these patients share a common embryonic origin argue for the use of the term Poland's sequence. We report the clinical features of two new cases in which the muscular mass gain typical of puberty appears to have been crucial in making the diagnosis.