63 resultados para neonatal abstinence syndrome
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Background: COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen genes usually leaves the message in-frame. The mutant protein then exerts a dominant negative effect as it co-assembles with other collagen gene products. To date only one large deletion of 40 kb in the COL11A1, which was detected by RT-PCR, has been characterized. However, commonly used screening protocols, utilizing genomic amplification and exon sequencing, are unlikely to detect such large deletions. Consequently the frequency of this type of mutation is unknown. Case presentations: We have used Multiplex Ligation-Dependent Probe Amplification (MLPA) in conjunction with exon amplification and sequencing, to analyze patients with clinical features of Stickler syndrome, and have detected six novel deletions that were not found by exon sequencing alone. Conclusion: Exon deletions appear to represent a significant proportion of type 2 Stickler syndrome. This observation was previously unknown and so diagnostic screening of COL11A1 should include assays capable of detecting both large and small deletions, in addition to exon sequencing.
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Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.
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BACKGROUND: Paraneoplastic neurologic syndromes (PNS) pose quite an uncommon neurological complication, affecting less than 1% of patients with breast cancer. Nearly one third of these patients lack detectable onconeural antibodies (ONAs), and improvement in neurologic deficits with concomitant cancer treatments is achieved in less than 30% of cases. CASE PRESENTATION: A 42-year-old, premenopausal woman presented with facial paralysis on the central left side accompanied by a left tongue deviation, an upward vertical nystagmus, moderate spastic paraparesis, dystonic posturing of the left foot, lower limb hyperreflexia and bilateral extensor plantar reflex. After ruling out all other potential neurologic causes, PNS was suspected but no ONAs were found. A PET-CT scan detected increased metabolism in the right breast, as well as an ipsilateral thoracic interpectoral adenopathy. Core biopsy confirmed the presence of an infiltrating duct carcinoma. After breast surgery, the neurologic symptoms disappeared. One week later, the patient was readmitted to the hospital with a bilateral fatigable eyelid ptosis, and two weeks later, there was a noticeable improvement in eyelid ptosis, accompanied by a rapid and progressive development of lower spastic paraparesis. She started adjuvant treatment with chemotherapy with marked clinical and neurological improvement, and by the end of radiotherapy, there were no signs of neurologic impairment. CONCLUSION: This case study highlights the importance of a high level of vigilance for the detection of PNS, even when ONAs are not detected, as the rapid identification and treatment of the underlying tumor offers the best chance for a full recovery.
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O Rastreio Universal da Audição Neonatal tem sido um objectivo que várias gerações de audiologistas, otorrinolaringologistas e pediatras tem tentado ao longo dos anos. Os autores fazem uma revisão dos principais métodos utilizados para a avaliação da audição dos recém-nascidos, bem como das dificuldades encontradas e limitações da sua utilização. Desde o inicio da década de noventa vêm a ser implementados verdadeiros métodos de detecção precoce e universal da surdez infantil, utilizando métodos fisiológicos tais como os potenciais evocados auditivos e as otoemissões acústicas (c1ássicos e automáticos). São descritos os artigos mais importantes que fundamentam a necessidade de diagnóstico e intervenção precoces na surdez sensorioneural, com vista a melhorar a aquisição e desenvolvimento da fala e da competência linguística, o que permite uma melhor integração da criança, independentemente do seu grau de surdez. São também enunciadas as directivas do "European Consensus Development on Neonatal Hearing Screening" e do "Joint Comitee on Infant Hearing".
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Objective: Early onset benign occipital lobe epilepsy (Panayiotopoulos syndrome [PS]) is a common and easily recognizable epilepsy. Interictal EEG spike activity is often multifocal but most frequently localized in the occipital lobes. The origin and clinical significance of the extra-occipital spikes remain poorly understood. Methods: Three patients with the PS and interictal EEG spikes with frontal lobe topography were studied using high-resolution EEG. Independent component analysis (ICA) was used to decompose the spikes in components with distinct temporal dynamics. The components were mapped in the scalp with a spline-laplacian algorithm. Results: The change in scalp potential topography from spike onset to peak, suggests the contribution of several intracranial generators, with different kinetics of activation and significant overlap. ICA was able to separate the major contributors to frontal spikes and consistently revealed an early activating group of components over the occipital areas in all the patients. The local origin of these early potentials was established by the spline-laplacian montage. Conclusions: Frontal spikes in PS are consistently associated with early and unilateral occipital lobe activation, suggesting a posteroanterior spike propagation. Significance: Frontal spikes in the PS represent a secondary activation triggered by occipital interictal discharges and do not represent an independent focus.
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The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down’s syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.
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Panayiotopoulos syndrome (PS) is a common epilepsy syndrome associated with rare clinical seizures and unknown localization of the epileptogenic area. Despite findings of normal development in patientswith PS, recent neuropsychological studies point to subtle and diverse cognitive impairments. No well-outlined hypothesis about the localization of the brain dysfunction responsible for these impairments has been proposed.We further explored the cognitive dysfunctions in PS andmade inferences on the most likely anatomical localization of brain impairment. A group of 19 patients (aged 6–12) with PS was rated according to spike activity and lateralization. The patients were submitted to a neuropsychological evaluation to assess general intelligence, memory, language, visual–perceptual abilities, attention, and executive functions. Using 35-channel scalp EEG recordings, the N170 face-evoked event-related potential (ERP)was obtained to assess the functional integrity of the ventral pathway. All patientswith PS showed normal IQ but subtle and consistent neurocognitive impairments. Namely, we found abnormalities in the copy task of the Rey–Osterrieth Complex Figure and in theNarrative Memory Test. There was no correlation between neuropsychological impairments with spike activity and hemispheric spike lateralization. The N170 ERP was normal in all patients except for one. Our neuropsychological findings demonstrate impairments in visual–perceptual abilities and in semantic processing. These findings, paired with the absence of occipital lobe dysfunction in all neuropsychological studies of PS performed to this date, support the existence of parietal lobe dysfunction.
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We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia–associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present.
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Introdução: O Volvo gástrico é uma doença rara em idade pediátrica. Estão descritos casos crónicos recorrentes e agudos, mas a sua incidência real é desconhecida. Apresentamos a descrição cirúrgica de um caso de volvo gástrico crónico, recorrente, diagnosticado no período neonatal, tratado com sucesso por via laparoscópica. Caso clínico: Recém-nascido, do sexo masculino, portador de anomalia de Ebstein, com vómitos não biliosos recorrentes, desidratação e perda ponderal. O estudo contrastado, do tubo digestivo superior, mostrou volvo gástrico organoaxial, tendo sido submetido a gastropexia por via laparoscópica. Discussão: Segundo a maioria dos autores, a correcção cirúrgica do volvo gástrico é mandatória para prevenção de recorrências e complicações. A gastropexia por via minimamente invasiva é simples e segura.
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Introducción: La utilización de normas de orientación para la nutrición parenteral neonatal mejora la eficiencia y la seguridad de su prescripción. Objetivo: Evaluar la práctica de prescripción de nutrición parenteral neonatal en Portugal y el cumplimiento del Consenso Nacional (2008). Métodos: Encuesta de respuesta múltiple sobre la prescripción de nutrición parenteral (NP) enviada a los coordinadores de las 50 unidades de cuidados especiales neonatales portuguesas, tanto públicas como privadas, siendo 25 de nível ii y 25 de nivel iii. Resultados: Se prescribe NP en 32 unidades neonatales, habiendo 23 (71,9%) respondido la encuesta. De estas, 19 (82,6%) afirman tener como referencia el Consenso Nacional y las restantes siguen protocolos internos; 17 (73,9%) afirman preferir la prescripción mediante soporte informático. En recién nacidos pretérmino, la mayoría reporta una administración cautelosa de líquidos en la primera semana posnatal; inicio de aminoácidos desde el primer día posnatal con 1,5-3 g/kg/día y aumento hasta 3-4 g/kg/día; inicio de lípidos en los 3 días posnatales com 1 g/kg/día y aumento hasta 3 g/kg/día; administración de 40-70 mg/kg/día de calcio y fósforo, con un ratio calcio:fósforo de 1,7:1 (mg:mg), y estimación de la osmolaridad de las soluciones y control semanal de la trigliceridemia, uremia, fosforemia y función hepática. Conclusiones: Por la elevada tasa de respuesta la muestra probablemente es representativa de la práctica de prescripción de nutrición parenteral neonatal en Portugal. La mayoría de las unidades tienen como referencia el Consenso Nacional, lo que contribuye a unos mejores cuidados de los recién nacidos.
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Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM#260920) is a rare recessively-inherited autoinflammatory condition caused bymutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Herewe report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12 months. Rash, arthralgia, abdominal pain and diarrhea were also seen occasionally. During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis. Clinical and laboratory improvement was seen between attacks. Despite normal serum IgD level, HIDS was clinically suspected. Mutational MVK analysis revealed the homozygous genotype with the novel p.Arg277Gly (p.R277G) mutation, while the healthy non consanguineous parents were heterozygous. Short nonsteroidal anti-inflammatory drugs and corticosteroid courses were given during attacks with poor benefits, where as anakinra showed positive responses only at high doses. The p.R277Gmutation here described is a novel missense MVK mutation, and it has been detected in this casewith a severe HIDS phenotype. Further studies are needed to evaluate a co-relation genotype, enzyme activity and phenotype, and to define the best therapeutic strategies.
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Multiple autoimmune syndrome is a rare condition, described by Humbert and Dupond in 1988. It is defined by the association of at least 3 autoimmune diseases in the same patient. Vitiligo is the most common skin condition in this syndrome. This article presents the case of a 31-year-old male with vitiligo, alopecia areata, Crohn's disease, psoriasis vulgaris and oral lichen planus. The rarity of this case is highlighted by the coexistence of four autoimmune skin diseases in association with Crohn's disease, never described in the literature.
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POEMS syndrome is a unique clinical entity, the diagnosis of which is made when polyneuropathy and monoclonal gammopathy occur together, associated with other changes such as organomegaly, endocrinopathy, skin changes and papilledema. Cutaneous manifestations are heterogeneous, with diffuse cutaneous hyperpigmentation, hemangiomas and hypertrichosis occurring more frequently. We report the case of a 65- year-old female patient with this syndrome, diagnosed after 15 years of disabling peripheral neuropathy.