Allergen Profile of London Plane Tree Pollen: Clinical and Molecular Pattern in Central Spain.

BACKGROUND AND OBJECTIVES: Platanus acerifolia (London plane tree) is a deciduous tree of the Platanaceae family. Sensitization to this plant varies with geography. Madrid, located in central Spain, has one of the highest London plane tree pollen concentration levels on the Iberian Peninsula. We evaluated both the clinical characteristics and the molecular sensitization pattern of patients with allergy to London plane tree pollen in the region of Madrid. METHODS: Thirty-eight patients allergic to London plane tree pollen were selected according to their clinical symptoms and positive results in skin prick testing and/or specific IgE determination. Serum was collected, and allergen components were evaluated using immunodetection techniques as well as ImmunoCAP. The IgE-binding proteins detected were identified and characterized using mass spectrometry. RESULTS: Analysis of serum samples from allergic patients revealed 9 IgE-binding bands in London plane tree pollen extract. Among these, the 45-kDa protein, which corresponded to Pla a 2, was detected in 76.3% of patients. However, the 18-kDa (Pla a 1) and 9-kDa (Pla a 3) bands were detected in 44.7% and 23.7% of sera, respectively. These results were confirmed using purified proteins. Characterization of the allergen revealed the 27-kDa protein to be glutathione-S-transferase. CONCLUSIONS: The molecular profile of patients sensitized to London plane tree pollen differs from that reported in studies from other locations. In the population we studied, the prevalence of Pla a 2 was higher than that of Pla a 1 and Pla a 3. In addition, the minor allergen previously referred to as Pla a 4 was characterized as glutathione-S-transferase.

Multidisciplinary management of head and neck cancer: First expert consensus using Delphi methodology from the Spanish Society for Head and Neck Cancer (part 1).

Head and neck cancer is one of the most frequent malignances worldwide. Despite the site-specific multimodality therapy, up to half of the patients will develop recurrence. Treatment selection based on a multidisciplinary tumor board represents the cornerstone of head and neck cancer, as it is essential for achieving the best results, not only in terms of outcome, but also in terms of organ-function preservation and quality of life. Evidence-based international and national clinical practice guidelines for head and neck cancer not always provide answers in terms of decision-making that specialists must deal with in their daily practice. This is the first Expert Consensus on the Multidisciplinary Approach for Head and Neck Squamous Cell Carcinoma (HNSCC) elaborated by the Spanish Society for Head and Neck Cancer and based on a Delphi methodology. It offers several specific recommendations based on the available evidence and the expertise of our specialists to facilitate decision-making of all health-care specialists involved.

Multidisciplinary management of head and neck cancer: First expert consensus using Delphi methodology from the Spanish Society for Head and Neck Cancer (part 2).

Head and neck cancer is one of the most frequent malignances worldwide. Despite the site-specific multimodality therapy, up to half of the patients will develop recurrence. Treatment selection based on a multidisciplinary tumor board represents the cornerstone of head and neck cancer, as it is essential for achieving the best results, not only in terms of outcome, but also in terms of organ-function preservation and quality of life. Evidence-based international and national clinical practice guidelines for head and neck cancer not always provide answers in terms of decision-making that specialists have to deal with in their daily practice. This is the first Expert Consensus on the Multidisciplinary Approach for Head and Neck Squamous Cell Carcinoma (HNSCC) elaborated by the Spanish Society for Head and Neck Cancer and based on a Delphi methodology. It offers a number of specific recommendations based on the available evidence and the expertise of our specialists to facilitate decision-making of all health-care specialists involved.

Dormancy induction by summer temperatures and/or desiccation in imbibed seeds of trumpet daffodils Narcissus alcaracensis and N. longispathus (Amaryllidaceae).

We analysed the effects of summer temperatures (28/14 °C) and/or desiccation (from 48% to 8% humidity) on imbibed Narcissus alcaracensis and N. longispathus seeds with an elongating embryo. In the N. alcaracensis seeds that overcame dormancy (embryo elongation = 27.14%), exposure to high temperatures induced secondary dormancy and reduced subsequent embryo growth. A further 3-month cold stratification (5 °C) was required to break secondary dormancy. Desiccation in early embryo growth stages (elongation = 11.42%) also reduced germination. Desiccation in the seeds in a more advanced growth stage (i.e. embryo elongation = 27.14%) induced secondary dormancy, which the further 3-month cold stratification did not overcome. When desiccation was preceded by high temperatures, seeds better overcame secondary dormancy (i.e. longer embryo elongation and seed germination). Treatments did not affect seed viability. In the N. longispathus seeds that overcame dormancy (embryo elongation = 59.21%), exposure to high temperatures induced secondary dormancy and they needed a further 1-month stratification at 15/4 °C + 2 months at 5 °C to reactivate the germination process. When embryo elongation was 42.10%, seed desiccation totally impeded subsequent germination. When embryo elongation reached 59.21%, desiccation induced secondary dormancy, which was not overcome by the above-described stratification treatment. When desiccation was preceded by high temperatures, seeds better overcame dormancy. Stress treatments killed 5-10% of seeds. This study suggests that the seeds of species with complex morphophysiological dormancy (MPD) levels are sensitive to desiccation in early embryo development stages, as opposed to the seeds of species with deep simple epicotyl MPD, which better tolerate water stress.

Performance of the Finnish Diabetes Risk Score and a Simplified Finnish Diabetes Risk Score in a Community-Based, Cross-Sectional Programme for Screening of Undiagnosed Type 2 Diabetes Mellitus and Dysglycaemia in Madrid, Spain: The SPREDIA-2 Study.

AIM: To evaluate the performance of the Finnish Diabetes Risk Score (FINDRISC) and a simplified FINDRISC score (MADRISC) in screening for undiagnosed type 2 diabetes mellitus (UT2DM) and dysglycaemia. METHODS: A population-based, cross-sectional, descriptive study was carried out with participants with UT2DM, ranged between 45-74 years and lived in two districts in the north of metropolitan Madrid (Spain). The FINDRISC and MADRISC scores were evaluated using the area under the receiver operating characteristic curve method (ROC-AUC). Four different gold standards were used for UT2DM and any dysglycaemia, as follows: fasting plasma glucose (FPG), oral glucose tolerance test (OGTT), HbA1c, and OGTT or HbA1c. Dysglycaemia and UT2DM were defined according to American Diabetes Association criteria. RESULTS: The study population comprised 1,426 participants (832 females and 594 males) with a mean age of 62 years (SD = 6.1). When HbA1c or OGTT criteria were used, the prevalence of UT2DM was 7.4% (10.4% in men and 5.2% in women; p<0.01) and the FINDRISC ROC-AUC for UT2DM was 0.72 (95% CI, 0.69-0.74). The optimal cut-off point was ≥13 (sensitivity = 63.8%, specificity = 65.1%). The ROC-AUC of MADRISC was 0.76 (95% CI, 0.72-0.81) with ≥13 as the optimal cut-off point (sensitivity = 84.8%, specificity = 54.6%). FINDRISC score ≥12 for detecting any dysglycaemia offered the best cut-off point when HbA1c alone or OGTT and HbA1c were the criteria used. CONCLUSIONS: FINDRISC proved to be a useful instrument in screening for dysglycaemia and UT2DM. In the screening of UT2DM, the simplified MADRISC performed as well as FINDRISC.

ETP-46321, a dual p110α/δ class IA phosphoinositide 3-kinase inhibitor modulates T lymphocyte activation and collagen-induced arthritis.

Class IA phosphoinositide 3-kinases (PI3Ks) are essential to function of normal and tumor cells, and to modulate immune responses. T lymphocytes express high levels of p110α and p110δ class IA PI3K. Whereas the functioning of PI3K p110δ in immune and autoimmune reactions is well established, the role of p110α is less well understood. Here, a novel dual p110α/δ inhibitor (ETP-46321) and highly specific p110α (A66) or p110δ (IC87114) inhibitors have been compared concerning T cell activation in vitro, as well as the effect on responses to protein antigen and collagen-induced arthritis in vivo. In vitro activation of naive CD4(+) T lymphocytes by anti-CD3 and anti-CD28 was inhibited more effectively by the p110δ inhibitor than by the p110α inhibitor as measured by cytokine secretion (IL-2, IL-10, and IFN-γ), T-bet expression and NFAT activation. In activated CD4(+) T cells re-stimulated through CD3 and ICOS, IC87114 inhibited Akt and Erk activation, and the secretion of IL-2, IL-4, IL-17A, and IFN-γ better than A66. The p110α/δ inhibitor ETP-46321, or p110α plus p110δ inhibitors also inhibited IL-21 secretion by differentiated CD4(+) T follicular (Tfh) or IL-17-producing (Th17) helper cells. In vivo, therapeutic administration of ETP-46321 significantly inhibited responses to protein antigen as well as collagen-induced arthritis, as measured by antigen-specific antibody responses, secretion of IL-10, IL-17A or IFN-γ, or clinical symptoms. Hence, p110α as well as p110δ Class IA PI3Ks are important to immune regulation; inhibition of both subunits may be an effective therapeutic approach in inflammatory autoimmune diseases like rheumatoid arthritis.

Impact of glutathione on the allergenicity of the peach lipid transfer protein Pru p 3.

BACKGROUND AND OBJECTIVE: The allergenic potential of proteins can be altered under various physicochemical conditions. Glutathione (GSH) is a reducing agent that is used as an antioxidant in food products. We aimed to characterize the natural folding of peach proteins and test the allergenicity of reduced and natural Pru p 3, the major peach allergen. METHODS: Pru p 3 was purified from peach, and its conformation was analyzed by means of circular dichroism. Using a thiol fluorescent probe, reduced proteins were detected in fresh peach. GSH-reduced Pru p 3 was tested in vitro for T-cell proliferation and in vivo using skin prick testing. RESULTS: GSH-reduced Pru p 3 produced variable skin prick reactions in peach-allergic patients. The proliferative response of peripheral blood mononuclear cells from allergic patients to reduced Pru p 3 tended to be less intense, whereas secretion of the cytokines IFN-γ, IL-5, and IL-10 was comparable. In a pool of sera from peach-allergic patients, reduction hardly impaired IgE-binding. Moreover, the stability of reduced Pru p 3 to gastrointestinal digestion was similar to that of the natural form. CONCLUSIONS: GSH can at least transiently reduce Pru p 3. We found that the effect of reduction on the allergenicity of Pru p 3 varied. Therefore, as an additive, GSH does not seem to eliminate the risk of reactions for peach-allergic patients.

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium.

BACKGROUND: Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium. METHODS: Data were combined from 49 studies, including 53 835 cases and 50 156 controls, of which 89 050 (46 450 cases and 42 600 controls) were of European ancestry, 12 893 (6269 cases and 6624 controls) of Asian and 2048 (1116 cases and 932 controls) of African ancestry. Associations with risk of breast cancer, overall and by disease sub-type, were assessed using unconditional logistic regression. RESULTS: Little evidence of association with breast cancer risk was observed for SNPs in the FGF receptor genes. The strongest evidence in European women was for rs743682 in FGFR3; the estimated per-allele odds ratio was 1.05 (95% confidence interval=1.02-1.09, P=0.0020), which is substantially lower than that observed for SNPs in FGFR2. CONCLUSION: Our results suggest that common variants in the other FGF receptors are not associated with risk of breast cancer to the degree observed for FGFR2.

[Update on photoprotection in children]. / Actualización en fotoprotección infantil.

Children are one of the population groups in which the photo-protection must be maximised. Firstly, because they take part in outdoor activities more often than adults. Secondly, because the principal risk factor for all types of skin cancer is ultraviolet radiation, and in particular, cumulative exposure during childhood. Hence, decreasing exposure to ultraviolet radiation in childhood has the potential to significantly lower the incidence of most forms of skin cancer. Photoprotection includes behavioural measures to protect the skin from sun exposure, e.g. sun protective clothes, hats, sunglasses, and sunscreens. It is necessary to provide information on aphotoprotection to parents, and, above all, to children, using educational campaigns to increase knowledge of photoprotection to help change attitudes towards sun exposure. Dermatologists and Paediatricians play a essential role in this educational work. In this article we review the latest information regarding paediatric sun protection, the new sunscreens, and the recent sun protection educational programs.

[Effectiveness of PRECEDE model for health education in metabolic control and reduction of cardiovascular risk factors in patients with diabetes type 2]. / Eficacia del modelo PRECEDE, de educación para la salud, en el control metabólico y de los factores de riesgo cardiovascular en pacientes con diabetes mellitus tipo 2.

OBJECTIVE: To evaluate the effectiveness of PRECEDE model for health education, in the metabolic control and the reduction of cardiovascular risk factors, in type 2 diabetic patients followed for over two years in primary health care services. MATERIALS AND METHODS: PRECEDE model for health education was used in 318 patients with type 2 diabetes, from five primary health care centres. The study was conducted during two years of monitoring. RESULTS: After two years of follow-up was observed decrease in diastolic and systolic pressures (p < 0.05), as well as in levels of total cholesterol and LDL-cholesterol (p < 0.05). Patients with good metabolic control (glycated hemoglobin A1c < 7% and LDL cholesterol < 100 mg/dl), increased from 9.9% to 16.8% (p < 0,05). On the other hand, 27% of patients improved their level of therapeutic adherence, and there was a decreased in the number of patients with microalbuminuria from 8.4% to 6.3% (p = 0.05). Finally, we found no differences in levels of glycated hemoglobin A1c, BMI and cardiovascular risk. Mortality after two years was 0.7%. DISCUSSION: PRECEDE model for health education is a useful method in the management of type 2 diabetes, that reduce the levels of blood pressure both systolic and diastolic, decrease the lipid levels, and improve the level of therapeutic adherence in type 2 diabetic patients, followed for two years.

Surgery of subacromial syndrome with application of plasma rich in growth factors.

BACKGROUND: Our objective was to evaluate clinical recovery of patients with subacromial syndrome, after administering them plasma rich in growth factors (PRGF) by means of the Constant, University of California Los Angeles (UCLA) and Dissabilities of Arm, Shoulder and Hand (DASH) tests. MATERIALS AND METHODS: Prospective cohort study involving two groups - group A, treated with PRGF (52 patients); and group B, without PRGF treatment (79 patients). We analyzed the clinical situation preoperatively (time 1), at 1 month (time 2) and after rehabilitation (time 3). RESULTS: We considered 131 patients (71.2% were men, with median age of 53.7 years). Different approaches were used - traditional (62.5%), mini-open (22.5%) and arthroscopic (15%), without significant differences (P= .71). We observed improvement in the Constant test results at time 2 (59.8 +/- 11.5 points in group A vs. 13.2 +/- 7.1 points in group B; P < .05) and at time 3 (79.3 +/- 11.6 points in group A vs. 59.7 +/- 20.1 points in group B; P (1/4) .05). We found improvement in the UCLA test results at time 2 (23.2 +/- 5.8 points in group A vs. 4.72 +/- 1.1 points in group B; P < .05) and at time 3 (32.1 +/- 5.3 points in group A vs. 22.1 +/- 7.35 points in group B; P < .05). We also observed improvement in the DASH test results at time 2 (45.2 +/- 17.2 points in group A vs. 118.3 +/- 7.6 points in group B, P < .05) and at time 3 (37.3 +/- 12.6 points in group A vs. 69 +/- 25.7 points in group B). Time of rehabilitation reduced significantly: 2.53 months in group A vs. 4.96 months in group B (P < .05). No significant differences were observed in surgical times: 88 minutes (group A) vs. 97 minutes (group B). CONCLUSION: In our experience, PRGF should be indicated in subacromial syndrome and cuff involvement, as shown by the improvement in our results in terms of better results of tests, reduction in rehabilitation time and no increase in operation time.

[Solitary fibrous tumors of the meninges: report of three cases and literature review]. / Tumor fibroso solitario meníngeo: descripción de tres casos y revisión de la literatura.

We report 3 patients with fibrous solitary tumor of meningeal location where we described the histological study, as well as evolution after the surgical treatment. The described patients presented ages of 37, 52 and 65 years, after the resection has not appeared an objective sign of recurrence in any case after 4, 6 and 7 years of follow-up respectively. Checking the literature the tumor is indistinguishable clinical and radiolocally of the typical meningioma, doing necessary the use of inmunohistochemistry to do the differential diagnosis, where positiveness for CD34 and the negativeness for EMA define the fibrous solitary tumor. It is about a benign tumor, where total removing is the principal factor in prognosis, nevertheless there are cases of local recurrences and long-distance metastasis. We can find all these characteristics in the showed cases of the present article, having the uncertainty of its local or systemic relapse ability in the future.

[Hypothalamic hamartoma: clinical characteristics. Electroencephalogram and brain magnetic resonance imaging in 10 patients]. / Hamartomas hipotalámicos: características clínicas, electroencefalograma y resonancia magnética cerebral en 10 pacientes.

INTRODUCTION: We describe clinical findings and electroencephalogram (EEG) in patients with hypothalamic hamartoma and epilepsy. METHODS: Our group includes 10 patients (eight males) with mean age of 17.8 years (range: 7-39) and hypothalamic hamartoma in the brain magnetic resonance imaging (MRI). We analyzed clinical data, seizure semiology, MRI and EEG findings of the neuropsychological study. RESULTS: Nine patients had gelastic seizures, that initiated at a mean age of 17.1 months (2 days-5 years). Other types of seizure were observed in seven and five had behavior disorders. Intelligence quotient (IQ) was below the mean range in three. Three children had precocious puberty and thyroid dysfunction. One patient did not have epilepsy. MRI showed a hypothalamic lesion suggesting hamartoma associated to a dysplastic lesion in one case. The interictal EEG was normal in 2 cases and revealed epileptiform abnormalities, consisting of spikes or sharp waves, in temporal regions, frontal, fronto-temporal regions and central-parietal in 8. Three patients had paroxysmal discharges of generalized fast activity (> 10 Hz) during non-REM sleep. Forty seizures were recorded, 31 had an ictal EEG pattern while the EEG was normal in 9. CONCLUSIONS: In our group gelastic seizures were an early and constant finding except in one patient. Partial complex seizures, behavior alteration and cognitive decline were frequent. Video-EEG monitoring allows us to identify interictal and ictal patterns that have been described in hypothalamic hamartomas.

[Supraglottic laryngectomy. Still on-going]. / Laringuectomía supraglótica. Todavía en la brecha.

INTRODUCTION: Horizontal supraglottic laryngectomy (HSL) allows the preservation of a functioning larynx and avoids a permanent tracheostoma. Its use and training have been conditioned by the employment of organ preservation programs and endoscopic laser surgery. OBJECTIVE: To show functional and oncological long-term results of HSL. MATERIAL AND METHOD: 110 patients treated with HSL with a minimum of 5 years follow-up. RESULTS: Local control, 89% for T1, 91% for T2, 80% for T3 and 91% for T4. Regional control 80.9%. Cause specific survival, 77.6%, 72.6% and 67% at 3, 5 and 10 years, significantly influenced by N-stage. Functional larynx preservation, 87%, with a 8.5% of non-decanulated patients. CONCLUSION: HSL is a safe surgical procedure, with similar functional and oncological results to other therapeutic options. Its indications should be considered according to own experience and results.

[Vascular access surveillance with blood flow monitoring: a prospective study with 65 patients]. / Monitorización del acceso vascular mediante la determinación del flujo sanguíneo durante la hemodiálisis por el método de ultrafiltración. estudio prospectivo de 65 pacientes.

BACKGROUND: Periodic intra-access blood flow rate (QA) monitoring is the preferred method for vascular access (VA) surveillance (NKF-K/DOQI, update 2000). OBJECTIVES: 1) To determine the ultrafiltration (UF) method accuracy for early detection of VA stenosis. 2) To evaluate the hemodynamic effect of elective VA intervention (angioplasty or surgery). 3) To define the impact of periodic QA monitoring using the UF method combined by elective VA intervention on VA thrombosis. PATIENTS AND METHODS: We prospectively monitored QA during hemodialysis (HD) in 65 ESRD (mean age 64.9 +/- 11.4 years, 20% diabetes) patients over 1 year period. All patients undergoing HD in the Hospital de Mollet by arteriovenous fistula (89.2%) or graft 10.8%. QA was measured at least every 4 months by the UF method using the Crit Line III Monitor. Fifty (77%) patients were included at the beginning of the study period and the remaining 15 (23%) were added later when they started HD. All patients with absolute QA <700 ml/min or decreased >20% from baseline met criteria of positive evaluation (PE) and were referred for angiography (AG) plus subsequent preventive intervention (angioplasty or surgery) if VA stenosis >50%. We also studied 94 not QA monitored patients since the beginning of the study period (mean age 64.6 +/- 13.7 years; 12.8% diabetes) that undergoing HD simultaneous in the Institut Nefrològic Granollers. RESULTS: We performed 200 QA measurements in 509 months of follow-up. The overall mean QA was 1176.7 +/- 491.8 ml/min (range, 380.5-2904.0 ml/min). Three patients (4.6%) thrombosed VA. Nineteen (29.2%) patients had PE; none of them clotted VA. The AG was performed in 84.2% (16/19) patients with PE and all of them (16/16) showed VA stenosis > or =50%; 31.2% (5/16) were lost to follow-up (3 death, 2 transplantation); of the remaining explored patients (11/16), 72.7% (8/11) underwent intervention (3 angioplasty, 5 surgery). The mean QA increased from 577.2 +/- 108.2 ml/min to 878.1 +/- 264.4 ml/min postintervention (p=0.005). The positive predictive value, negative predictive value, sensitivity and specificity of UF method for VA stenosis were 84.2%, 93.5%, 84.2% and 93.5%, respectively. VA thrombosis rate in our 50 beginners QA monitored patients (mean age 64.5 +/- 1 1.4 years; 20% diabetes) was lower (2/50, 4%) compared to 94 not QA monitored patients (16/94, 17%) (p=0.024). CONCLUSIONS: 1) QA monitoring using the UF method allows an early diagnosis of VA stenosis. 2) Serial QA measurement by UF method can be used in assessing the functional response to corrective VA intervention. 3) Periodic VA surveillance by QA measurements using the UF method combined with elective intervention results in reduced VA thrombosis.

[Intranasal and buccal midazolam in the treatment of acute seizures]. / Midazolam intranasal y bucal en el tratamiento de las convulsiones agudas.

AIMS: There are several personal and social problems involved in the administration of rectal diazepam that make it unsuitable for use in public places and by non medical workers, in children and especially in teenagers and adults. Intranasal and oral midazolam could be an alternative to rectal diazepam. We review the efficacy and safety of these ways of administering midazolam, which is already used in some countries as a sedative and as an anticonvulsive drug, despite the fact that it has not yet received authorisation. DEVELOPMENT: Intranasal midazolam (INM) was first used as a sedative in dental extractions, echocardiography, endoscopies or surgery, especially in children. After proving its efficacy electroencephalographically in patients with seizures, it started to be used to interrupt acute seizures. In three randomised trials, the efficacy of intranasal and oral midazolam in hospitalised patients was similar to, and even higher than, that of intravenous or rectal diazepam, with a similar speed of action and safety; no studies have been conducted, however, in the extra hospital milieu and its risk of respiratory depression may be like that of other benzodiazepines. One of the problems of using the parenteral solution for intranasal administration is the irritation that is produced by its acidic pH and the relatively large volume that has to be administered. These problems could be reduced by using aerosols containing a solution of midazolam in cyclodextrin, which accomplishes a greater concentration with a pH that is less acidic. Oral administration can be used in patients with nasal secretions or intense movements of the head. CONCLUSIONS: Intranasal or oral midazolam can improve the treatment of acute seizures in the hospital milieu and, more especially, in the extra hospital milieu when patients are attended by non medical staff. There is a need, however, for trials that prove its efficacy and safety in this situation.

[Microcephaly, bilateral corneal opacity and congenital lobar holoprosencephaly with subsequent development of a rhabdomyosarcoma in a patient exposed to prenatal radiation]. / Microcefalia, opacidad corneal bilateral y holoprosencefalia lobar congénitas con desarrollo posterior de un rabdomiosarcoma en un paciente expuesto a radiación prenatal.

INTRODUCTION: Most congenital malformations of which the cause is known are due to genetic or multifactorial causes or are secondary to a teratogen. Many congenital malformations are of unknown origin. However, the association of different malformations allows us to define the moment in which the noxous agent affected embryonic or foetal development. CLINICAL CASE: We present the case of a baby born after 40 weeks gestation, who had been exposed to ionising radiation before birth. Prenatal echography showed microcephaly and the karyotype was normal. The newborn baby had corneal opacities, microcephaly and complex encephalic malformations. The corneal opacity together with congenital glaucoma constitute Peters syndrome which leads to blindness, and is treated by trabeculectomy and bilateral corneal transplants. The microcephaly and lobar holoprosencephaly with agenesis of the corpus callosum led to reduced psychomotor development, hypertonia and epilepsy with an electroencephalogram recording of hemihypsarrythmia which was unsuccessfully treated with valproate and vigabatrine. At the age of 21 months the patient developed an embryonic rhabdomyosarcoma of the base of the tongue. He died with systemic infection whilst being treated with chemotherapy. CONCLUSIONS: The association of the malformations described has not previously been reported in the international data bases. Although it was not possible to prove that prenatal exposure to radiation caused the clinical condition described, the possibility of teratogenesis and carcinogenesis following such exposure means that pregnant women or those who may be pregnant should not be in places where radiodiagnosis is carried out.

Calidad de vida de pacientes operados de cáncer de laringe / Life quality of patients undergoing surgery for larynx cancer

El presente estudio tiene como objetivo, valorar la calidad de vida de 87 pacientes operados de cáncer de laringe, analizando distintos aspectos psicosociales. El método de estudio se ha basado en el cuestionario PAIS-SR. Las puntuaciones obtenidas se han comparado según las técnicas quirúrgicas y las diferencias que existen entre estos pacientes y sujetos tratados de otros tumores. Los resultados muestran que los pacientes operados de cáncer de laringe no tienen peor calidad de vida que los tratados de otras neoplasias. Por orden de importancia su adaptación será mejor cuanto menos agresiva sea la técnica quirúrgica realizada, si no es necesario dejar un traqueostoma, si no reciben radioterapia postoperatoria, si conservan buena voz y si no alteran su ocupación habitual después de la intervención

[Hereditary neuropathy with liability to pressure palsies in childhood]. / Neuropatía hereditaria con susceptibilidad a la presión en la infancia.

INTRODUCTION: The diagnosis of hereditary neuropathy with liability to pressure palsies during childhood is uncommon, since the disorder is still asymptomatic and the clinical features are nonspecific. CLINICAL CASE: We present a case of hereditary neuropathy with liability to pressure palsies in a seven and a half year old girl with deteriorating clinical findings of 'pies cavos', scoliosis, difficulty in walking and torticollis, but without episodes of paralysis. On the electroneurographic (ENG) study numerous anomalies of sensory and motor nerve conduction were seen, especially at sites of nerve trapping, both in the patient and in her mother; genetic study showed deletions of chromosome 17p11.2 in both. CONCLUSIONS: Hereditary neuropathy with liability to pressure palsiesin childhood may follow a course which does not show typical pressure palsies. Therefore the ENG study is very important for detection of the disorder. Torticollis, as well as pies cavos and scoliosis, is frequently seen in neuropaediatric clinics, so the possibility, as in the case reported, that this is part of the clinical spectrum of hereditary neuropathy with liability to pressure palsies should be considered. With diagnostic confirmation on genetic studies, nerve biopsy is not necessary.