Complicaciones oculares asociadas a la fiebre por dengue / Ophthalmic complications associated to dengue fever

RESUMEN La infección por el virus del dengue va en aumento en las regiones tropicales de Asia, África y América. Se estima que se producen de 50 a 100 millones de casos de esta enfermedad al año. En los últimos tiempos han aumentado los reportes de manifestaciones oculares en estos pacientes, las cuales ocurren en un rango de 5 a 7 días posteriores al inicio de los síntomas, aunque también pueden ocurrir más tarde, y generalmente existe buen pronóstico visual. Se realiza una revisión bibliográfica con el objetivo de ampliar el conocimiento sobre un tema poco tratado en nuestro medio. Se consultaron fundamentalmente artículos científicos de revistas, publicados en las bases de datos PubMED y Cochrane, así como textos básicos que abordan este tema en los últimos 5 años, a través de Google académico como motor de búsqueda. Se constató que se han reportado manifestaciones oculares en pacientes con dengue que van desde hallazgos en el segmento anterior sin afectación visual, hasta cuadros más intensos que interesan las estructuras del polo posterior del ojo. La fisiopatología de estos hallazgos aún se encuentra en estudio y no existe consenso para su tratamiento. A pesar de que el pronóstico visual de estas alteraciones es bueno, se reportan casos donde no es así y se precisa mayor comprensión sobre la fisiopatología de estas para un abordaje terapéutico más adecuado en cada caso(AU)

ABSTRACT Infection by dengue virus is on the increase in tropical regions of Asia, Africa and America. It has been estimated that 50 to 100 million cases of this disease occur every year. Recent years have witnessed a rise in the number of reports of ocular manifestations in dengue patients. These manifestations appear 5 to 7 days after symptom onset, though they could also occur later, and the visual prognosis is generally good. A bibliographic review was conducted with the purpose of broadening knowledge about a topic not commonly dealt with in our environment. The search was mainly aimed at scientific papers from journals, published in the databases PubMed and Cochrane, as well as basic texts addressing the study topic in the last 5 years, using the search engine Google Scholar. Ocular manifestations were found to have been reported in dengue patients. These range from findings in the anterior segment without any visual alteration to more intense episodes affecting the structures of the posterior pole of the eye. The physiopathology of these findings is still being studied, and there is no consensus about its treatment. Despite the good visual prognosis of these alterations, cases have been reported of a different outcome. Therefore, a better understanding is required of their physiopathology to achieve a more appropriate therapy for each case(AU)

COVID-19: presentación clínica en adultos / COVID-19: clinical features in adult patients

Este artículo resume las diferentes formas de presentación clínica de la enfermedad COVID-19 causada por el virus SARS-Co-2 documentadas fundamentalmente en las tres principales revisiones sistemáticas disponibles. Entre las manifestaciones clínicas de frecuente aparición se destacan la fiebre (83 %), la tos (60 %) y la fatiga (38 %), seguidas por las mialgias (29 %), el aumento de la producción del esputo (27 %) y la disnea (25 %). Entre los hallazgos de laboratorio,predominan el aumento de los valores de proteína C reactiva (69 %), la linfopenia (57 %) y el aumento de los niveles de lactato-deshidrogenasa (52 %). Respecto de las manifestaciones radiológicas, tienen especial importancia las opacificaciones en vidrio esmerilado (80 %), la neumonía bilateral (73 %) y la afectación de tres lóbulos pulmonares o más (57 %).Si bien la evidencia sintetizada tiene limitaciones, permite una aproximación actualizada a los conocimientos disponibles sobre la clínica de esta nueva enfermedad en la población adulta. (AU)

This article summarizes the different forms of clinical presentation of COVID-19, caused by the SARS-Co-2 virus, synthesizing the information collected mainly by three published systematic reviews. Frequent clinical manifestations include fever(83 %), cough (60 %), and fatigue (38 %), followed by myalgia (29 %), increased sputum production (27 %) and dyspnea(25 %). Among the laboratory findings, the most common are the increase in C-reactive protein values (69 %), lymphopenia (57 %) and the increase in lactate dehydrogenase levels (52 %).. Most remarkable radiological features include ground glass opacifications (80 %), bilateral pneumonia (73 %) and the involvement of three or more lung lobes (57 %). Although the synthesized evidence has limitations, it allows an updated approach to the available knowledge about the clinical symptoms of this new disease in the adult population. (AU)

Enfermedades autoinflamatorias / Autoinflammatory diseases

Las enfermedades autoinflamatorias monogénicas son desórdenes raros que resultan en defectos del sistema inmune innato, originando excesiva respuesta a señales de peligro, activación espontánea de vías inflamatorias o pérdida de reguladores inhibitorios. En los últimos 15 años un creciente número de enfermedades inflamatorias monogénicas han sido descriptas y sus respectivos genes responsables identificados. Las proteínas codificadas por estos genes están involucradas en las vías regulatorias de la inflamación y están expresadas fundamentalmente en las células del sistema inmune innato. Si bien un grupo de pacientes exhibe inflamación sistémica episódica (fiebres periódicas), estos desórdenes están mediados por una continua sobreproducción y liberación de mediadores pro-inflamatorios -especialmente la interleucina 1beta- y su conceptualización como enfermedades autoinflamatorias es preferible por sobre la de fiebres periódicas. Las enfermedades más frecuentes son fiebre mediterránea familiar (FMF), TRAPS, deficiencia de mevalonatocinasa/síndrome de hiper IgD (MKD/HIDS) y los síndromes periódicos asociados a criopirina (CAPS). Sus características clínicas frecuentemente incluyen fiebre, erupciones cutáneas, compromiso de serosas y reactantes de fase aguda. Los autoanticuerpos están usualmente ausentes pero pueden observarse en ciertos síndromes. El diagnóstico es clínico y se basa en las características fenotípicas. El diagnóstico genético es muy importante pero debe ser realizado de manera juiciosa e interpretado con cautela. El tratamiento con agentes biológicos que bloquean citocinas pro-inflamatorias, particularmente IL-1, ha demostrado ser efectivo en muchos pacientes. Sin embargo, en otros tantos casos no se descubren anormalidades genéticas y el tratamiento es subóptimo, planteando la posibilidad de mutaciones patogénicas en genes y vías aún no explorados.

The monogenic autoinflammatory diseases are rare, genetic disorders resulting in constitutive innate immune defects leading to excessive response to danger signals, spontaneous activation of inflammatory mediators or loss of inhibitory regulators. During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Although a group of patients exhibit episodic systemic inflammation (periodic fevers), these disorders are mediated by continuous overproduction and release of pro-inflammatory mediators, notably IL-1β, and are best considered as autoinflammatory diseases rather than periodic fevers. The most common autoinflammatory diseases are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS) and the cryopyrin-associated periodic syndromes (CAPS). Clinical features often include fever, cutaneous rash, serosal involvement and acute phase reactants. Autoantibodies are usually absent but may accompany certain syndromes. Diagnosis remains clinical and is based on the different phenotypic features. Genetic diagnosis is of utmost importance, but must be performed judiciously and interpreted cautiously. Treatment with biologic agents that block proinflammatory cytokines, particularly IL-1, has proved to be dramatically effective in many patients. Still, in many cases of autoinflammation no genetic abnormalities are detected and treatment remains suboptimal, raising the question of novel pathogenic mutations in unexplored genes and pathways.

Detection of Oropouche virus segment S in patients and inCulex quinquefasciatus in the state of Mato Grosso, Brazil

This study aimed to investigate the circulation of Orthobunyavirus species in the state of Mato Grosso (MT) Brazil. During a dengue outbreak in 2011/2012, 529 serum samples were collected from patients with acute febrile illness with symptoms for up to five days and 387 pools of female Culex quinquefasciatuscaptured in 2013 were subjected to nested-reverse transcription-polymerase chain reaction for segment S of the Simbu serogroup followed by nucleotide sequencing and virus isolation in Vero cells. Patients (5/529; 0.9%) from Cuiabá (n = 3), Várzea Grande (n = 1) and Nova Mutum (n = 1) municipalities were positive for the S segment of Oropouche virus (OROV). Additionally, eight/387 Cx. quinquefasciatuspools were positive for the segment, with a minimum infection rate of 2.3. Phylogenetic analysis indicated that all the samples belong to the subgenotype Ia, presenting high homology with OROV strains obtained from humans and animals in the Brazilian Amazon. The present paper reports the first detection of an Orthobunyavirus, possibly OROV, in patients and in Cx. quinquefasciatus mosquitoes in MT. This finding reinforces the notion that arboviruses frequently reported in the Amazon Region circulate sporadically in MT during dengue outbreaks.

Fisiopatología y manejo de la fiebre: (2ª parte) / Pathophysiology and management of fever: (Part 2)

A pesar de que la fiebre fue entendida durante mucho tiempo y por muchas Civilizaciones como un recurso dei organismo para controlar algunas enfermedades, esta idea comenzó a perderse en el siglo XIX, cuando los estudios dei médico francés Claude Bernard (1813-1878) hicieron que la medicina alópata la considerara como un evento perjudicial. No obstante, la perspectiva homeopática considera que la fiebre es una expresión de los esfuerzos dei organismo por restablecer su salud, de modo que debe de manejarse con criteria y buscar su regulación, y no solamente suprimiria por el hecho de que exista. Así, la propu esta hahnemanniana consiste en suministrar medicamentos que estimulen ai cuerpo humano para recuperar su armonía de manera ordenada. En este mismo tenor, recientes investigaciones in vitro en el campo de la inmunología aportan conclusiones parecidas a las dei enfoque homeopático, ya que sus resultados sugieren que el aumento en la temperatura corporal es un recurso complejo que no sólo inhibiría el desarrollo de ciertos agentes patógenos, sino que mejoraría el funcionamiento de algunos mecanismos dei sistema in munológico. De esta forma, existen pruebas que permiten entrever que, en realídad, la erradicación de la fiebre que propone el enfoque alopático reduciría la efectividad de mecanismos generados durante siglas de evolución de los seres vivos. Presentamos a nuestros lectores la segunda y última parte de este trabajo.

Although fever has been understood for a long time and by many civilizations as a organism resource to control diseases, this idea began to get lost in the nineteenth century, when French physician Claude Bernard (1813-1878) studies made allopathic medicine considered it as a damaging event However, in a homeopathic perspective fever is an expression of the organism efforts to restore its health so it must be handled with discretion and seek their regulation, and not only suppress it by fact that exist, the hahnemannian proposal is to pro vide medicines that stimulate the human body to regain its harmony in an orderly way. In the same way, in vitro recent research in the field of immunology provide similar conclusions to those in the homeopathic approach, as the results suggest that the increase in body temperature is a complex resource that not only inhibit the development of certain pathogens , but would improve the functioning of some immune mechanisms. Thus, there is evidence to support the conclusion that, in fact, indiscriminate suppression of fever could sometimes reduce the effectiveness of proposed mechanisms generated during centuries of evolution of living beings. We present to our readers the second and final part of this paper.

Fisiopatología y manejo de la fiebre: (1ª parte) / Pathophysiology and management of fever: (Part 1)

La fiebre fue entendida durante mucho tiempo y por muchas civilizaciones como un recurso del organismo para controlar algunas enfermedades; no obstante, esta idea comenzó a abandonarse a partir de los estudios del médico francés Claude Bernard (1813-1878), por lo que la medicina al6pata empezó a consideraría como un evento perjudicial que se debe erradicar. Desde la perspectiva hahnemanniana, la fiebre expresa los esfuerzos del organismo por restablecer su salud y la vía correcta para lograrlo, de modo que no debe suprimirse; al contrario, lo que propone es suministrar medicamentos que estimulen al cuerpo para continuar con esta labor, so lo que de manera ordenada o modulada. Más aún, recientes investigaciones in vitro en el campo de la inmunología apoyan el enfoque homeopático, ya que han sugerido que el aumento en la temperatura corporal es un recurso complejo que no sólo inhibiría el desarrollo de ciertos agentes patógenos, sino que contribuiría a que algunos mecanismos de la respuesta inmune funcionen mejor que a la temperatura normal. Así pues, el enfoque alopático, empeñado en disminuir la fiebre, en realidad reduciría la efectividad de los mecanismos generados por el sistema inmunológico durante siglos de evolución de los seres vivos. Presentamos a continuación la primera de dos partes de este trabajo.

Temas de atualização e revisão em Clínica Médica: febres prolongadas de origem obscura: parte 1 / Themes of updating and revision in Medical Clinic: prolonged fever of unknown origin: part 1

Os autores apresentam uma revisão sobre as febres de origem obscura. Discutem inicialmente o seu conceito, restringindo o artigo ao estudo das febres de origem obscura clássica. Em seguida analisam as suas principais causas, dividindo-as em quatro grupos: infecções, neoplasias, doenças inflamatórias não infecciosas e miscelânea. São discutidos os principais exames laboratoriais e procedimentos indicados no seu esclarecimento, propondo uma rotina para os casos sem indícios diagnósticos. Continuam o trabalho revisando as razões citadas para explicar o retardo diagnóstico e descrevem as suas principais formas de evolução. Terminam a revisão listando as provas terapêuticas mais executadas nos pacientes que ao fim da investigação ainda não tem um diagnóstico firmado.

A review on fever of unknown origin (FUO) is presented. After defining its concept, the authors focus on the discussion of the classic FUO. The etiology is analyzed, with the main causes of FUO classified into four groups: infections, malignancies, non-infectious inflammatory diseases and miscellaneous. The main laboratorial tests and diagnostic procedures used to clarify the cause of classic FUO are discussed and an investigation routine for cases with unexplained FUO is proposed. The main causes for diagnosis delay and the outcome of such cases are analyzed. Finally, the authors describe the most frequent empirical therapeutic trials that are employed in patients whose diagnosis remain undefined after appropriate investigation.

Clinical and etiological profile of acute febrile encephalopathy in eastern Nepal.

Objective. To investigate the clinical and etiological profile of acute febrile encephalopathy in children presenting to a tertiary care referral center of Eastern Nepal. Methods. 107 children (aged 1 month to 14 yr) presenting to the emergency with fever (> 380 C) of less than 2 wk duration with altered sensorium with/ or without seizure were prospectively investigated for etiological cause. The investigations included blood and CSF counts, blood and CSF cultures, peripheral smear and serology for malarial parasite, and serology for Japanese encephalitis (JE) virus. Other investigations included EEG and CT or MRI wherever indicated. Results. The most common presenting complaints apart from fever and altered sensorium were headache and vomiting. Convulsions, neck rigidity, hypertonia, brisk deep tendon reflexes, extensor plantar response and focal neurological deficits were seen in 50%, 57%, 22.4%, 28%, 39.3% and 9.3% of the subjects, respectively. The diagnoses based on clinical presentation and laboratory findings were pyogenic meningitis in 45 (42%), non JE viral encephalitis in 26 (25%), JE in 19 (18%), cerebral malaria in 8 (7%), herpes encephalitis and tubercular meningitis in 4 (4%) each, and typhoid encephalopathy in 1 case. Conclusion. Pyogenic meningitis and viral encephalitis including JE are the most common causes of acute presentation with fever and encephalopathy. Preventive strategies must be directed keeping these causes in mind.

Análise da temperatura axilar e da febre verificadas em um ensaio clínico com vacinas / Analysis of axillary temperature and fever observed in a clinical trial of vaccines

Objetivos: Analisar a temperatura axilar no estudo da vacina contra difteria, tétano, o componente pertussis e hemófilo (DTP/Hib), a frequência de febre e a associação dos eventos adversos. Analisar a metodologia para verificação da temperatura corpórea e febre utilizada em diferentes estudos clínicos com a vacina DTP/Hib. Materiais e métodos: Este trabalho é baseado em dados obtidos do “Estudo de imunogenicidade e reatogenicidade de vacina combinada contra difteria, tétano, pertussis e hemófilo tipo b: validação clínica de produto produzido totalmente no Brasil”, com 1000 lactentes, realizado no município do Rio de Janeiro, no ano de 2006. Foi analisada a temperatura axilar nos tempos 3, 6, 12, 24, 48 e 72 horas após a vacinação. Foram analisadas as associações entre os eventos adversos locais e eventos adversos sistêmicos. Resultados: A freqüência de febre foi de 53,4 % após a primeira dose, 39,9 % após a segunda dose e 31,5 % após a terceira dose nas 24 horas após a vacinação. A freqüência de febre foi diminuindo com a aplicação das doses. Não houve padrão de associação entre os eventos adversos locais e sistêmicos. A mediana da distribuição da temperatura axilar foi maior nos tempos 6 e 12 horas após a vacinação. Conclusões: A definição de febre e as metodologias utilizadas nos estudos clínicos para verificar a temperatura corpórea ainda são heterogêneas, o que dificulta a comparabilidade entre eles.

Objectives: To analyze the axillary temperature in the study of the vaccine DTP/Hib (Martins et al., 2008), the frequency of fever and the association of the adverse events. To analyze themethodology for checking of the corporal temperature and fever used in different clinical trial with the vaccine DTP/Hib. Materials and methods: This work is based on obtained data of the “Study of immunogenicity and reactogenicity of vaccine combined against diphtheria, tetanus, pertussisand haemophylus type b: clinical validation of product produced totally in Brazil ”, with 1000 infants, carried out in the local authority of the Rio of January, in the year of 2006. The axillary temperature was analyzed in the times 3, 6, 12, 24, 48 and 72 hours after the vaccination. The associations were analyzed between the adverse local events and adverse systemic events. Results: The frequency of fever was 53.4 % after the first dose, 39.9 % after the second dose and 31.5 % after the third dose in 24 hours after the vaccination. The frequency of feverwas lessening with the application of the doses. There was no standard of association between the adverse local events and systemic adverse events. The medium one of the distribution ofthe axillary temperature was bigger in the times 6 and 12 hours after the vaccination. Conclusions: The definition of fever and the methodologies used in the clinical studies to check the corporal temperature they are still heterogeneous what makes difficult thecomparability between them.

Systemic onset juvenile idiopathic arthritis--its unusual presentation.

We report a case of systemic onset juvenile idiopathic arthritis (SOJIA), the manifestations of which started with fever and skin rash followed by arthritis within neonatal age. Such presentation is extremely rare in the newborn. After exclusion of closely mimicking conditions like congenital infections, neonatal onset multisystem inflammatory disease (NOMID), neonatal; lupus erythematosus (NLE) diagnosis of SOJIA may be entertained even in a neonate where arthritis, fever and rash are the presenting features.

Tratamiento al niño febril en atención primaria de salud / Treatment of the febrile child in primary health care

Se exponen consideraciones útiles sobre el tratamiento de la fiebre en el niño en el nivel de atención primaria de salud, haciendo referencia a aspectos esenciales, tales como: definición, fisiopatología, clasificación, signos de alarma y cómo tomar la temperatura, así como también aspectos básicos a tener en cuenta en el tratamiento de la entidad. Al constituir la fiebre uno de los motivos más frecuentes de atención al niño, se destaca la importancia de su correcta valoración por todo el personal que se enfrenta a la siempre preocupante situación del niño febril. Además, se enfatiza en el pesquisaje de una infección bacteriana severa a todo niño que acuda al facultativo con fiebre. Se hace referencia a algunos protocolos de trabajos nacionales e internacionales para el tratamiento al niño febril. Finalmente se hacen consideraciones sobre la importancia de entrenar no solamente al personal de la salud que atiende a los niños, sino también a los familiares y a los cuidadores del niño febril, así como algunas recomendaciones y sugerencias basadas en la bibliografía revisada y en nuestra propia experiencia en la práctica clínica.

Useful considerations on the treatment of fever in the child at the primary health care level were exposed, making reference to essential aspects, such as: definition, physiopathology, classification, alarm signs, how to take the temperature, as well as other basic aspects to be taken into account in the treatment of the entity. On having fever, one of the most frequent reasons to give attention to the child, it was stressed the importance of its correct assessment by all the personnel facing the increasingly worrying situation of the febrile child. Moreover, emphasis was made on the screening of a severe bacterial infection in every child with fever visiting the physician. Reference was made to some national and international working protocols for the treatment of the febrile child. Finally, some considerations were made on the importance of training not only the health personnel providing attention to the children, but also the relatives and care givers of the febrile child. Recommendations and suggestions based on the reviewed bibliography and on our experience in clinical practice were also exposed.

Jones criteria and underdiagnosis of rheumatic fever.

OBJECTIVE: The authors attempt to determine whether typical clinical and laboratory manifestations of acute rheumatic fever (ARF) are in accordance to what has been traditionally described and how useful the Jones criteria are for diagnosis. METHODS: Data from 81 cases of ARF were retrospectively collected. Inclusion criteria: 5 to 15 years of age and diagnosis of ARF confirmed by 2 or more rheumatologists, sustained for at least 6 months and two or more visits. RESULTS: Girls had more chorea (23/50.0% vs. 5/14.3%)(p< 0.0001). Cardiovascular (65/80.2%) and joint involvements (63 / 77.8%) were the most frequent manifestations. Fever was noted in roughly half of the patients. Arthritis was more frequent than arthralgia (47/58.0% vs. 16/19.8%, respectively) (p< 0.0001); however, no specific pattern of joint involvement was found to be more prevalent. Mitral insufficiency was the most frequently detected echocardiographic sign (53 / 93.0%) and its association with aortic insufficiency was noted in 27 / 47.4% patients. Only 24 / 29.6% patients fulfilled Jones criteria for ARF requiring an evidence of previous group-A streptococcal infection (GASI). When compulsory GASI was disregarded, this number rose to 71/87.7% patients (p< 0.0001). CONCLUSION: Girls were more affected by chorea; heart valves and joints were equally affected and represented the major clinical features; no specific pattern of joint involvement (eg.: migratory arthritis) could be labeled as typical; and strict adherence to Jones criteria, with compulsory documentation of a previous GASI, may lead to underdiagnosis of ARF.

Tormenta simpatica paroxistica siguiendo a injuria axonal difusa / Paroxysmal sympathetic storm after diffuse axonal head injury

El término tormenta simpática paroxística se utiliza como sinónimo de alteraciones episódicas de la temperatura corporal, la presión arterial, la frecuencia respiratoria y cardíaca, el tamaño pupilary el nivel de conciencia, que coinciden con hiperhidrosis, salivación excesiva y postura extensora. Esto siempreen el contexto de una injuria axonal difusa grave que sigue a un traumatismo encéfalo-craneano (TEC) grave.Presentamos dos pacientes jóvenes con injuria axonal difusa secundaria a TEC grave, que desarrollan en suevolución cuadros de hipertensión arterial, taquicardia y fiebre, sin evidencia durante los episodios de actividad epileptiforme y habiéndose descartado la causa infecciosa, que responden favorablemente al tratamiento con beta-bloqueantes y morfina. Consideramos que el correcto diagnóstico de esta entidad minimiza la solicitud de estudios innecesarios permitiendo iniciar un tratamiento adecuadoc

The term paroxysmal sympatheticstorms is used to define episodic alterations in body temperature, blood pressure, heart and respiratoryrate, size of pupil, and level of consciousness coinciding with hyperhidrosis, excessive salivation and extensor posturing. All the cases were presented after severe diffuse axonal head injury. We present two young patients with diffuse axonal head injury that develop in their evolution hypertension, tachycardia and fever without evidence during theepisodes of epileptiform activity and without any infectious cause with excellent answer to the treatment withbeta-blockers and morphine. We consider that the correct diagnosis of this entity minimizes the application ofunnecessary studies allowing an appropriate treatment

Tratamento da febre em crianças / Treatment of fever in children

A febre é uma das queixas mais comuns durante os atendimentos pediátricos. Embora na maioria das vezes seja a primeira manifestação de infecções virais agudas, a presenca dela é temida, pois também pode ser o sinal inicial de doenças graves...

Sydney crease in children with febrile seizures

Introducción. En el presente estudio se compararon las características clínicas y algunas variables previamente consideradas como factores de riesgo en niños con convulsiones febriles (CF) con y sin línea Sydney (LS); además se determinó la variación de los pliegues de flexión palmares en sus padres. Material y métodos. Noventa y un niños con un evento de CF se incluyeron en un estudio de corte transversal. Las características clínicas de las CF y algunos factores de riesgo para la recurrencia de CF o convulsiones no febriles fueron comparados en relación a la presencia (n= 43) o ausencia (n= 48) de LS. Además, se evaluaron los pliegues de flexión palmares en 85 de sus madres y 39 de sus padres. Resultados. Las características clínicas y las variables estudiadas fueron similares en los niños con y sin LS, con excepción de una menor frecuencia de infecciones respiratorias superiores como causa de la fiebre en los niños con CF y LS (P= < 0.05). Los padres de los niños con CF y LS mostraron mayor frecuencia estadística de LS (P= < 0.01), al compararlos con los padres de niños con CF sin LS, con razón de momios= 21.11 (intervalo de confianza al 95 por ciento 2.20 a 962.79). Conclusiones. Las características clínicas de las CF no se modificaron sustancialmente por la presencia o ausencia de LS. No se demostró asociación entre los factores de riesgo explorados y la presencia de LS. La transmisión paterna observada de la LS en la asociación CF/LS, sugiere la presencia de factores genéticos en la embriogénesis de los pliegues palmares y las CF.

Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth.

Permanent neonatal diabetes mellitus (PNIDDM) is a rare form of IDDM with unclear etiology and pathogenesis. We determined the incidence and prevalence rates and studied the clinical and biochemical features of PNIDDM in the Sultanate of Oman. The mean incidence rate during the study period from January 1989 to December 1994 was 1.788 +/- 0.82 per 100,000 live births per year. At the end of December 1994 the prevalence rate was 2.4 per 100,000 children below the age of 5 years. They constituted 41.6% of all cases of IDDM in this age group. Diarrhoea, fever, lethargy, poor feeding and failure to thrive were the most common presenting symptoms. Dehydration and tachypnoea were the most common signs. All patients who developed IDDM during the neonatal period had intrauterine growth retardation and 4.5 presented with diabetic ketoacidosis (plasma glucose 37 +/- 9 mmol/L, pH 7.12 +/- 0.1). Hypertriglyceridemia was a constant feature (19.4 +/- 4.8 mmol/L). They were products of consanguineous marriage with significantly high prevalence of IDDM and NIDDM in their family members. None of the infants had clinical or immunological evidence of congenital viral infection. Three of the five children had HLA-DR2, the diabetes resistance alleles. C-peptide secretion was absent during and after metabolic control of hyperglycemia in all the studied infants and none had circulating islet cell antibody at presentation or during the first year after diagnosis. Despite marked growth retardation at birth, there was a significant improvement of growth after initiating insulin therapy. Four of the 5 patients had normal developmental milestones, one had mild developmental delay following a severe and prolonged attack of hypoglycemia. None of the patients had exocrine pancreatic deficiency. In summary, the very high rate of parental consanguinity, occurrence in both sexes and in two siblings in the same family, absence of islet cell antibodies and the presence of HLA-DR2 loci in 3/5 of patients suggest that PNIDDM is a different disease process to standard IDDM in childhood and an autosomal recessive mode of transmission.