SEOM clinical guideline for secondary prevention (2019).

Cancer is one of the major public health problems in our society. It is estimated that more than 18 million new cases are diagnosed worldwide every year; 280,000 in Spain. Incidence in following a growing trend. This epidemic could be controlled with research into new treatments and, above all, with adequate prevention. Primary prevention could prevent avoid up to half of all cases. For many others, secondary prevention is essential, as it make diagnosis possible in the stages of the disease when it is easily curable. These guidelines present the scientific evidence regarding secondary prevention in tumors in which its use is well-accepted: breast, cervical, colorectal, prostate, lung, ovarian, melanoma, and gastric cancer.

[The intercontinental schizophrenia outpatient health outcomes study (IC-SOHO): initial 6 month findings of the sample in Latin America]. / Estudio observacional intercontinental de los resultados de salud en pacientes ambulatorios con esquizofrenia (IC-SOHO): hallazgos iniciales de 6 meses de la muestra en Latinoamérica.

The IC-SOHO study was designed to supply information on antipsychotic treatments in the real clinical practice by assessment of a large and diverse sample population with schizophrenia. This document describes the findings of the first 6 months of IC-SOHO in Latin America. To date, this is the largest observational study of its type in this region. In this observational and prospective study, those out-patients with schizophrenia, who require a change or initiation of antipsychotic medication are hospitalized. Effectiveness was evaluated using the Clinical Global Impression-Seriousness (CGI-S) grading scale. Tolerability was assessed by questionnaires on adverse events and weight measurements. Herein, the comparisons between olanzapine (monotherapy), risperidone (monotherapy) and conventional antipsychotics (monotherapy and combined therapy) are presented. As a whole, 7,658 patients participated in the ICSOHO; n=2,671 from 11 countries of Latin America that were included in this report. At 6 months, the proportion of patients who responded to olanzapine was significantly greater than those who responded to risperidone or conventional antipsychotics (p<0.001). Patients from the olanzapine group had greater improvements in all the symptom domains, including general, positive, negative, depressive and cognitive symptoms in comparison with risperidone (p<0.05) or conventional antipsychotics (p < 0.001). Extrapyramidal symptoms (EPS) and tardive dyskinesia (TD) decreased from baseline in the groups treated with olanzapine and risperidone, but increased in the conventional group. The adverse events related with the sexual function were more prominent in the conventional group. Weight gain was observed in each treatment group, although the patients from the olanzapine group had greater weight grain followed by those of risperidone and then by those of conventional antipsychotics. Our findings in this population of the Latin American sample emulate the results of other studies in different samples, where it was found that olanzapine was more effective and better tolerated than risperidone or conventional antipsychotics.

Estudio observacional intercontinental de los resultados de salud en pacientes ambulatorios con esquizofrenia (IC-SOHO): hallazgos iniciales de 6 meses de la muestra en Latinoamérica / The intercontinental schizophrenia outpatient health outcomes study (IC-SOHO): initial 6 month findings of the sample in Latin America

El estudio IC-SOHO se diseñó para aportar información sobre los tratamientos antipsicóticos en la práctica clínica real mediante la evaluación de una población de muestra grande y diversa con esquizofrenia. Este documento describe los hallazgos de los primeros 6 meses del IC-SOHO en Latinoamérica. A la fecha éste es el estudio observacional más grande de su tipo en esta región. En este estudio observacional y prospectivo se ingresaron aquellos pacientes ambulatorios con esquizofrenia que requirieron un cambio o un inicio de medicación antipsicótica. La efectividad se evaluó utilizando la escala de Calificación de Impresión Clínica Global-Gravedad (CGI-S). La tolerabilidad se evaluó mediante cuestionarios de efectos adversos y mediciones de peso. Se presentan aquí las comparaciones entre olanzapina (monoterapia), risperidona (monoterapia) y antipsicóticos convencionales (monoterapia y terapia combinada). En conjunto, participaron 7.658 pacientes en el IC-SOHO; n=2.671 provenientes de 11 países de Latinoamérica se incluyeron en este informe. A los 6 meses la proporción de pacientes que respondieron a la olanzapina fue significativamente mayor que los que respondieron a la risperidona o los antipsicóticos convencionales (p < 0,001). Los pacientes del grupo de olanzapina tuvieron mejorías mayores en todos los dominios de síntomas, incluyendo los síntomas generales, positivos, negativos, depresivos y cognoscitivos, en comparación con la risperidona (p<0,05) o los antipsicóticos convencionales (p<0,001). Los síntomas extrapiramidales (SEP) y la discinesia tardía (DT) disminuyeron desde la línea basal en los grupos tratados con olanzapina y risperidona, pero aumentaron en el grupo convencional. Los efectos adversos relacionados con la función sexual fueron más prominentes en el grupo convencional. Se observó ganancia de peso en cada grupo de tratamiento, aunque los pacientes del grupo de olanzapina aumentaron más de peso, seguidos por los de risperidona y después por los de antipsicóticos convencionales. Nuestros hallazgos en esta población de muestra latinoamericana emulan los resultados de otros estudios en muestras diferentes, donde se encontró que la olanzapina fue más efectiva y mejor tolerada que la risperidona o los antipsicóticos convencionales

The IC-SOHO study was designed to supply information on antipsychotic treatments in the real clinical practice by assessment of a large and diverse sample population with schizophrenia. This document describes the findings of the first 6 months of IC-SOHO in Latin America. To date, this is the largest observational study of its type in this region. In this observational and prospective study, those out-patients with schizophrenia, who require a change or initiation of antipsychotic medication are hospitalized. Effectiveness was evaluated using the Clinical Global Impression- Seriousness (CGI-S) grading scale. Tolerability was assessed by questionnaires on adverse events and weight measurements. Herein, the comparisons between olanzapine (monotherapy), risperidone (monotherapy) and conventional antipsychotics (monotherapy and combined therapy) are presented. As a whole, 7,658 patients participated in the ICSOHO; n=2,671 from 11 countries of Latin America that were included in this report. At 6 months, the proportion of patients who responded to olanzapine was significantly greater than those who responded to risperidone or conventional antipsychotics (p<0.001). Patients from the olanzapine group had greater improvements in all the symptom domains, including general, positive, negative, depressive and cognitive symptoms in comparison with risperidone (p<0.05) or conventional antipsychotics (p < 0.001). Extrapyramidal symptoms (EPS) and tardive dyskinesia (TD) decreased from baseline in the groups treated with olanzapine and risperidone, but increased in the conventional group. The adverse events related with the sexual function were more prominent in the conventional group. Weight gain was observed in each treatment group, although the patients from the olanzapine group had greater weight grain followed by those of risperidone and then by those of conventional antipsychotics. Our findings in this population of the Latin American sample emulate the results of other studies in different samples, where it was found that olanzapine was more effective and better tolerated than risperidone or conventional antipsychotics

Total body water measurement using bioelectrical impedance analysis, isotope dilution and total body potassium: a scoring system to facilitate intercomparison.

OBJECTIVES: (1) To develop a scale that is useful in evaluating the accuracy of multifrequency bioelectrical impedance analysis (MF-BIA) in the assessment of body water volumes against the accepted gold standard measurements based on isotope-dilution and total body potassium (TBK). (2) To perform a pilot test of the scale. DESIGN: A scale was developed to evaluate the accuracy of MF-BIA in the assessment of body water volumes. Questions were obtained from reading the scientific literature and discussions involving the four authors. Three of these and two additional independent readers pre-tested the scale. A weighting was identified for each question and a pilot test with a sample of 10 articles (different to those used for the questionnaire performance) was conducted. A further validation was carried out with a second set of 20 articles and two additional independent readers. RESULTS: The kappa statistic expressing the level of agreement between pairs of the first three authors using this scale with 10 articles, was 0.3, 0.4 and 0.6 after the first attempt. A second evaluation after specific changes improved the agreement to 0.8, 0.6 and 0.8. The mean score for 10 articles was 252+/-36 points from a total score of 400 (63+/-9%). The evaluation with the second set of 20 articles resulted in a kappa of 0.7 from two pairs of authors. The evaluation with two additional reviewers resulted in a kappa=0.7. CONCLUSION: A tool has been developed to assess the accuracy of the MF-BIA technique and to identify methodological components, plan future studies and critically evaluate data in this area. It is likely that this tool may also be used to assess the accuracy of single frequency studies.

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

We report on a family with typical clinical findings of Noonan syndrome associated with giant cell lesions in maxilla and mandible. We discuss the obvious clinical overlap between Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome, and we give further clinical and molecular support that these two entities could be allelic conditions.

Prevención primaria de la diabetes: una necesidad para el siglo XXI / Primary prevention of diabetes: a need for 21st century

La prevalencia de la diabetes continúa en ascenso en todo el mundo. En este artículo se revisa su situación mundial, sus aspectos genéticos y las estrategias de prevención primaria de la diabetes tipo 2.

Cardiac findings in 31 patients with Noonan's syndrome.

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.

Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia consistent with the diagnosis of AEC syndrome. We compare the findings in our patient with the previous reported cases and discuss the overlapping phenotype of this disorder with CHAND syndrome.

Standardized limb abduction for bioimpedance measurements using position restraints.

Bioelectrical impedance analysis (BIA) measurements are widely used in the assessment of body hydration. However, there are many variables which can influence the impedance values obtained and their individual significance is not entirely clear. One such variable is limb position and it is possible to standardize this either by invoking subject cooperation or by the use of some form of mechanical constraint. This study evaluates these two approaches. BIA measurements were made on five healthy male volunteers both with the positioners and without. Additional variables including room temperature, prandial status, exercise, alcohol intake, bed surface for the test, and bladder status were controlled. The mean percentage difference between impedance values with and without positioners was (-0.37 +/- 0.69)%. The mean difference between occasions with and without mechanical fixing was (2.02 +/- 2.5)% and (2.58 +/- 3)% respectively. None of these differences is statistically significant. It was concluded that reproducibility of BIA measurements obtained with active subject cooperation in limb position is not significantly improved if mechanical positioners are used. This may not apply where subject cooperation is poor e.g. in very sick or very young people or in repeated measurements in different days.

Clinical and molecular analysis of spinal muscular atrophy in brazilian patients

As amiotrofias espinhais progressivas (SMAs) constituem as doenças degenerativas de origem genética letais mais comuns do sistema nervoso central e mais freqüentes dentre as doenças autossômicas recessivas após a mucoviscidose. A incidência estimada das SMAs e de aproximadamente 1:10.000 nativivos. Clinicamente, as SMAs säo classificadas em mais grave (doença de Werdnig-Hoffmann, tipo I), intermediária (tipo II) e tardia e benigna (doença de Kugelberg-Welander, tipo III). O gene para os três tipos de SMAs foi mapeado no cromossomo 5q11.2-13.3. Foram identificados dois genes candidatos na mesma regiäo: SMN (sobrevida do neurônio motor) e NAIP (proteína inibidora de apoptose neuronal). Estudamos ambos genes em 87 pacientes brasileiros (20 tipo I, 14 tipo II e 53 tipo III) pertencentes a 74 famílias, utilizando as técnicas de PCR e SSCP. Foi encontrada deleçäo nos exons 7 e/ou 8 do gene SMN em 69 por cento das famílias: 16/20 na tipo I, 9/12 na tipo II e 26/42 na tipo III. Dentre as 51 famílias com deleçäo, 44 tiveram deleçäo no exon 5 do gene NAIP foi encontrada em 7/20 na tipo I, 2/12 na tipo II e 1/42 na tipo III. Näo foi encontrada deleçäo nos genes SMN e NAIP nos 112 progenitores, 26 irmandades assintomáticas e 104 controles normais. Näo houve correlaçäo entre deleçäo de um ou ambos genes com a gravidade do quadro clínico.

Clinical and radiological aspects in Melnick-Needles syndrome.

Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids. S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds. We are presenting the first Brazilian family with mother-daughter transmission. The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.

Noonan syndrome: a clinical and genetic study of 31 patients.

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy.

BACKGROUND: Misoprostol is commonly used to induce abortion in Brazil, and in other countries in South and Central America where abortions are illegal. However, misoprostol is not very effective in inducing abortions, and exposure to the drug in utero can cause abnormalities in the fetus. We aimed to define the common phenotypical effects of exposure to the drug. METHODS: We studied 42 infants from São Paulo, Brazil, who were exposed to misoprostol during the first 3 months of gestation, and then born with congenital abnormalities. We interviewed each of the infants' mothers to find out about misoprostol exposure and dosage. Each infant was physically examined by a geneticist or a neuropaediatrician. FINDINGS: 17 of the infants had equinovarus with cranial-nerve defects. Ten children had equinovarus as part of more extensive arthrogryposis. The most distinctive phenotypes were arthrogryposis confined to the legs (five cases) and terminal transverse-limb defects (nine cases) with or without Mobius sequence. The most common dose of misoprostol taken was 800 microg (range 200-16000 microg). INTERPRETATION: Deformities attributed to vascular disruption were found in these children. We suggest that the uterine contractions induced by misoprostol cause vascular disruption in the fetus, including brain-stem ischaemia. Information on the effects of taking misoprostol during pregnancy should be made more widely available, to dissuade women from misusing the drug.

PIP: In Brazil and other South and Central American countries where abortion is illegal, misoprostol is widely available and commonly used to induce abortion. However, misoprostol is not very effective as an abortifacient agent and can cause fetal abnormalities. The present study reviewed the cases of 42 infants from Sao Paulo, Brazil, who were exposed to misoprostol during the first trimester of pregnancy and then born with a congenital abnormality. 17 children had equinovarus with cranial nerve deficiencies and 10 had equinovarus as part of a more extensive arthrogryposis. The most distinctive phenotypes were arthrogryposis confined to the legs (5 cases) and terminal transverse limb defects (9 cases). Congenital hydrocephalus was present in 8 children. The most commonly taken dose of misoprostol was 800 mcg (range, 200-16,000 mcg). Greater awareness of the widespread use of misoprostol to induce abortion should lead to public health interventions to prevent teratogenic effects.

Síndrome unha-patela: estudo de duas famílias e revisäo de literatura / Nail-patella syndroem: study of two families and literature review

A síndrome unha-patela (SUP) é uma condiçao rara com padrao de herança autossômica dominante que se caracteriza pela tétrade: displasia ungueal, hipoplasia ou agenesia de patela, displasia do cotovelo e esporoes ósseos no íliaco. As principais complicaçoes da USP consistem nas deformidades esqueléticas e na nefropatia. Aproximadamente, 45 por cento dos pacientes com hipoplasia da patela necessitarao de cirurgia para o realinhamento desta. A doença renal pode estar associada à SUP, embora a maioria dos pacientes seja assintomática e apresente somente proteinúria. Foram estudadas duas famílias: uma com um caso esporádico e uma com três afetados pela SUP.

Hereditary multiple exostoses and cervical ventral protuberance causing dysphagia. A case report.

STUDY DESIGN: A case report of a patient with hereditary multiple exostosis and who presented with cervical ventral protuberance causing dysphagia. OBJECTIVES: To present this rare situation and to discuss the treatment and the result obtained. SUMMARY OF BACKGROUND DATA: We found in the literature only one case of exostosis of the cervical spine causing dysphagia. METHODS: The patient, a 16-year-old girl, was affected by hereditary multiple exostosis, as was her father. The diagnosis was confirmed by radiograph, computed tomography, and magnetic resonance imaging, which showed a tumor in the anterior arch of the atlas. The patient was submitted to a transoral approach, and the tumor was excised. RESULTS: The patient had a good evolution 2 years after the surgery without sign of recurrence. CONCLUSIONS: This was a very rare situation, and the result validated the treatment used.

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

Deletion 11q23-->qter and duplication 12q23-->qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23-->24 in the cause of the neuroblastoma is discussed.

Chronic granulomatous disease of childhood: differential diagnosis and prognosis.

Of a total of 111 children with primary immunodeficiency, 20 had phagocytic disorders (18%) and 10 of them (8 boys and 2 girls) were diagnosed as chronic granulomatous disease (CGD). The children presented with repeated infections already during the first months of life. The main clinical findings were: abscess (n = 8), otitis (n = 8), pneumonia (n = 8), lymphadenitis and pyodermitis (n = 6) and septicemia (4), NBT reduction was almost absent in all the children, except one of them. Bactericidal activity against S. aureus and phagocytosis were impaired in CGD patients. Different patterns of laboratory tests and prognosis were observed and girls had a better evolution.

Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy.

Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal in Brazil. An uncertain number of these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug in the first trimester of gestation without success. The 7 patients presented with limb defects and in 4 of them a diagnosis of Möbius sequence was made.