Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy.Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealedmosaic trisomy 18with trisomy in 90%of peripheral lymphocytes and 17%of skin fibroblasts.This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

Trombofilias e Contracepção

Thrombophilias, whether inherited or acquired, are a topic of increased interest in women’s health. Factors that enhance thrombus formation in the presence of thrombophilia include oral contraception, hormone replacement therapy, pregnancy and the puerperium. The risk of venous thomboembolism with hormonal contraceptive use is greater in women with underlying thrombophilias, and thrombosis usually occurs earlier than in women without defined thrombophilias. The degree of increased risk varies according to the underlying thrombophilic defect, the largest bulk of evidence referring to women with Factor V Leiden or prothrombin gene mutation. However, most instances of thrombosis occur due to a combination of inherited, acquired and environmental factors. Before starting oral contraception it is important to screen patients to identify those at increased risk of thrombosis.

Estudo da qualidade de processos na fabricação de semicondutores

A indústria de semicondutores é um sector em permanente evolução tecnológica. A tendência de miniaturização e de otimização do espaço, a necessidade de produzir circuitos cada vez mais complexos, a tendência para o incremento do número de camadas em cada circuito integrado, são as condições necessárias para que a evolução tecnológica nesta área seja uma constante. Os processos ligados à produção de semicondutores estão também em permanente evolução, dada a pressão efetuada pelas necessidades acima expostas. Os equipamentos necessitam de uma crescente precisão, a qual tem que ser acompanhada de procedimentos rigorosos para que a qualidade atingida tenha sempre o patamar desejado. No entanto, a constante evolução nem sempre permite um adequado levantamento de todas as causas que estão na origem de alguns problemas detetados na fabricação de semicondutores. Este trabalho teve por objetivo efetuar um levantamento dos processos ligados ao fabrico de semicondutores a partir de uma pastilha de silício (wafer) previamente realizada, identificando para cada processo os possíveis defeitos introduzidos pelo mesmo, procurando inventariar as causas possíveis que possam estar na origem desse defeito e realizar procedimentos que permitam criar regras e procedimentos perfeitamente estabelecidos que permitam aprender com os erros e evitar que os mesmos problemas se possam vir a repetir em situações análogas em outros produtos de uma mesma família.

Estudo da resistência e mecanismos de dano em juntas adesivas entre materiais compósitos com defeitos de adesão

A necessidade de utilizar métodos de ligação entre componentes de forma mais rápida, eficaz e com melhores resultados tem causado a crescente utilização das juntas adesivas, em detrimento dos métodos tradicionais de ligação. A utilização das juntas adesivas tem vindo a aumentar em diversas aplicações industriais por estas apresentarem vantagens, das quais se destacam a redução de peso, redução de concentrações de tensões e facilidade de fabrico. No entanto, uma das limitações das juntas adesivas é a dificuldade em prever a resistência da junta após fabrico e durante a sua vida útil devido à presença de defeitos no adesivo. Os defeitos são normalmente gerados pela preparação inadequada das juntas ou degradação do adesivo devido ao ambiente (por exemplo, humidade), reduzindo a qualidade da ligação e influenciando a resistência da junta. Neste trabalho é apresentado um estudo experimental e numérico de juntas de sobreposição simples (JSS) com a inclusão de defeitos centrados na camada de adesivo para comprimentos de sobreposição (LO) diferentes. Os adesivos utilizados foram o Araldite® AV138, apresentado como sendo frágil, e o adesivo Sikaforce® 7752, intitulado como adesivo dúctil. A parte experimental consistiu no ensaio à tração das diferentes JSS permitindo a obtenção das curvas força-deslocamento (P-δ). A análise numérica por modelos de dano coesivo (MDC) foi realizada para analisar as tensões de arrancamento ((σy) e as tensões de corte (τxy) na camada adesiva, para estudar a variável de dano do MDC durante o processo de rotura e para avaliar a capacidade dos MDC na previsão da resistência da junta. Constatou-se um efeito significativo dos defeitos de diferentes dimensões na resistência das juntas, que também depende do tipo de adesivo utilizado e do valor de LO. Os modelos numéricos permitiram a descrição detalhada do comportamento das juntas e previsão de resistência, embora para o adesivo dúctil a utilização de uma lei coesiva triangular tenha provocado alguma discrepância relativamente aos resultados experimentais.

Atrial Septal Defects

Atrial septal defects are the third most common type of congenital heart disease. Included in this group of malformations are several types of atrial communications that allow shunting of blood between the systemic and the pulmonary circulations. Most children with isolated atrial septal defects are free of symptoms, but the rates of exercise intolerance, atrial tachyarrhythmias, right ventricular dysfunction, and pulmonary hypertension increase with advancing age and life expectancy is reduced in adults with untreated defects. The risk of development of pulmonary vascular disease, a potentially lethal complication, is higher in female patients and in older adults with untreated defects. Surgical closure is safe and effective and when done before age 25 years is associated with normal life expectancy. Transcatheter closure offers a less invasive alternative for patients with a secundum defect who fulfil anatomical and size criteria. In this Seminar we review the causes, anatomy, pathophysiology, treatment, and outcomes of atrial septal defects in children and adult patients in whom this defect is the primary cardiac anomaly.

Reconstrução Complexa de Defeito do Terço Inferior do Nariz

A reconstrução de defeitos nasais deve preservar a integridade das funções e expressões faciais. A localização do tumor, o tamanho, as camadas atingidas e a disponibilidade de tecido dador devem ser considerados, de modo a estabelecer o procedimento cirúrgico adequado. Em qualquer reconstrução nasal, é necessário ter em conta três camadas: revestimento interno, suporte cartilagíneo e revestimento externo. Os autores descrevem a reconstrução de um defeito de espessura total do terço inferior do nariz após excisão de carcinoma basocelular recidivado, com retalho septal mucoso ipsilateral para a reconstrução do revestimento interno, enxerto livre de cartilagem auricular para o suporte cartilagíneo e retalho de transposição nasogeniano para o revestimento externo, num único tempo cirúrgico e com resultado estético e funcional final aceitável.

Evolução do Rastreio da Comunicação Interventricular

De 24 de Outubro de 1969 a 31 de Dezembro de 1986 foram observadas e seguidas por comunica ção interventricular isolada em Cardiologia Pediátrica no Hospital de Santa Marta 1274 crianças, com idade compreendida entre 3 dias e 12 anos, sem síndromes, nascidas em território nacional. Seiscentas e cinquenta e nove eram do sexo masculino e 615 do sexo feminino. Dada a importância do rastreio precoce na prevenção do estabelecimento de doença vascular pulmonar com resistência arterial pulmonar fixa foi feito o estudo evolutivo anual da idade da primeira observação. Os resultados foram favoráveis a partir de 1972, verificando-se uma melhoria progressiva com aumento do número de casos /ano e diminuição da idade do rastreio, sobretudo durante os últimos 7 anos do estudo.

Tumors of the Brachial Plexus in a Tertiary Referral Center: a Case Series and Literature Review

Introduction: Brachial plexus (BP) tumors are very rare tumors, with less than 800 cases been described in the literature worldwide since 1970. These tumors often present as local or radicular pain, with scant or no neurological deficits. These symptoms are shared by many other more common rheumatologic diseases, thus making their diagnosis difficult in most cases. Additionally, these tumors often present as lumps and are therefore biopsied, which carries a significant risk of iatrogenic nerve injury. Material and Methods: In this paper the authors describe their experience with the management of 5 patients with BP tumors followed up for at least 2 years. There were 4 males and 1 female. Median follow-up time was 41 ± 21 months. Average age at diagnosis was 40,0 ± 19,9 years. The most common complaints at presentation were pain and sensibility changes. All patients had a positive Tinel sign when the lesion was percussed. In all patients surgery was undertaken and the tumors removed. In 4 patients nerve integrity was maintained. In one patient with excruciating pain a segment of the nerve had to be excised and the nerve defect was bridged with sural nerve grafts. Results: Pathology examination of the resected specimens revealed a Schwannoma in 4 cases and a neurofibroma in the patient submitted to segmental nerve resection. Two years postoperatively, no recurrences were observed. All patients revealed clinical improvement. The patient submitted to nerve resection had improvement in pain, but presented diminished strength and sensibility in the involved nerve territory. Conclusion: Surgical excision of BP tumors is not a risk free procedure. Most authors suggest surgery if the lesion is symptomatic or progressing in size. If the tumor is stationary and not associated with neurological dysfunction a conservative approach should be taken.

Deficiência da Descaboxilase dos L-Aminoacidos Aromáticos

A descarboxilase dos L-aminoácidos aromáticos, um enzima piridoxina dependente, é responsável pela conversão da L-dopa em dopamina e do 5 hidroxitriptofano em serotonina. A deficiência desse enzima, um erro inato do metabolismo dos neurotransmissores, resulta numa doença autossómica recessiva com manifestações neurológicas graves. Os dois casos apresentados de deficiência da descarboxilase dos L-aminoácidos aromáticos, entidade pela primeira vez descrita no nosso país, apresentam características clínicas semelhantes, resultantes da disfunção do metabolismo aminérgico: hipotonia, distonia, atraso no desenvolvimento psicomotor, episódios de movimentos oculógiros, irritabilidade e instabilidade vasomotora. A tomografia computadorizada e a ressonância magnética cerebrais foram normais em ambos os casos. Os exames bioquímicos e o estudo da actividade enzimática permitiram fazer o diagnóstico de deficiência da descarboxilase dos L-aminoácidos aromáticos. O nosso objectivo é chamar a atenção para a necessidade de investigar os defeitos do metabolismo dos neurotransmilissores na presença de Uma doença neurológica crónica sem etiologia conhecida. A importância de colocar este diagnóstico diferencial, o mais precocemente possível, advém das possibilidades de terapêutica, aconselhamento genético adequado e diagnóstico pré-natal, já hoje existentes.

Lack of Spontaneous Venous Pulsation: Possible Risk Indicator in Normal Tension Glaucoma?

PURPOSE: Recently, the absence of spontaneous venous pulsation (SVP) has been suggested as a vascular risk factor for primary open-angle glaucoma (POAG). As the mechanism behind this phenomenon is still unknown, the authors have studied this vascular component using colour Doppler imaging (CDI). METHODS: A total of 236 patients were divided into three diagnostic groups: healthy controls (81), POAG (86) and normal tension glaucoma (NTG; 69). All subjects were submitted to CDI studies of the retrobulbar circulation, intraocular pressure measurements and assessment of SVP existence. Mann-Whitney, chi-square contingency tables and Spearman correlations were used to explore differences and correlations between variables in the diagnostic groups. RESULTS: Eighty-two percent of healthy controls had SVP (66/81), while a smaller numbers were registered in both glaucoma groups: POAG - 50% (43/86); NTG - 51% (35/69). In NTG patients, but not in POAG patients, the prevalence of the SVP phenomenon decreases with increased glaucoma damage (p = 0.04; p = 0.55, respectively). Overall glaucoma patients from both groups had lower central retinal vein (CRV) velocities than the healthy controls (p < 0.05). NTG patients with SVP had less severe visual field defects (mean defect -6.92 versus -11.1, p < 0.05), higher [correction added after online publication 21 September 2012; the word 'higher' has been inserted to replace the word 'lower'] peak systolic and mean flow velocities in the central retinal artery (p < 0.01; p < 0.05, respectively) as well as higher [correction added after online publication 21 September 2012; the word higher has been inserted to replace the word lower] maximal velocities and RI of the CRV (p < 0.02; p < 0.05, respectively). CONCLUSIONS: Glaucoma patients have a decrease in CRV velocities. SVP is less prevalent in glaucoma patients than in healthy individuals. This phenomenon apparently reflects different hemodynamic patterns in the central retinal vessels. This variable may be of particular importance in NTG patients, where it may be associated with more advanced functional damage.

Imaging the Hypoglossal Nerve

The hypoglossal nerve is a pure motor nerve. It provides motor control to the intrinsic and extrinsic tongue muscles thus being essential for normal tongue movement and coordination. In order to design a useful imaging approach and a working differential diagnosis in cases of hypoglossal nerve damage one has to have a good knowledge of the normal anatomy of the nerve trunk and its main branches. A successful imaging evaluation to hypoglossal diseases always requires high resolution studies due to the small size of the structures being studied. MRI is the preferred modality to directly visualize the nerve, while CT is superior in displaying the bony anatomy of the neurovascular foramina of the skull base. Also, while CT is only able to detect nerve pathology by indirect signs, such as bony expansion of the hypoglossal canal, MRI is able to visualize directly the causative pathological process as in the case of small tumors, or infectious/inflammatory processes affecting the nerve. The easiest way to approach the study of the hypoglossal nerve is to divide it in its main segments: intra-axial, cisternal, skull base and extracranial segment, tailoring the imaging technique to each anatomical area while bearing in mind the main disease entities affecting each segment.

Clinical and Genetic Characterization of Portuguese Patients with Pseudohypoparathyroidism Type Ib

Patients with pseudohypoparathyroidism type Ib (PHP-Ib) present hypocalcemia and hyperphosphatemia, as a consequence of a resistance to PTH action, through its G-protein-coupled receptor, in the renal tubules. This resistance results from tissue-specific silencing of the G-protein alpha-subunit (G(s)α), due to imprinting disruption of its encoding locus--GNAS. In familial PHP-Ib, maternally inherited deletions at the STX16 gene are associated to a regional GNAS methylation defect. In sporadic PHP-Ib, broad methylation changes at GNAS arise from unknown genetic causes. In this study, we describe the clinical presentation of PHP-Ib in four Portuguese patients (two of whom were siblings), and provide further insight for the management of patients with this disease. The diagnosis of PHP-Ib was made after detection of GNAS imprinting defects in each of the cases. In the siblings, a regional GNAS methylation change resulted from a known 3.0 kb STX16 deletion. In the other two patients, the broad methylation defects at GNAS, which were absent in their relatives, resulted from genetic alterations that remain to be identified. We report the first clinical and genetic study of Portuguese patients with PHP-Ib. The genetic identification of a hereditary form of this rare disease allowed an early diagnosis, and may prevent hypocalcemia-related complications.

PROP1 Gene Analysis in Portuguese Patients with Combined Pituitary Hormone Deficiency

OBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and 29 sporadic cases) selected on the basis of clinical and hormonal evidence of GH deficiency, central hypothyroidism and hypogonadotrophic hypogonadism, in the absence of an identified cause of hypopituitarism. Mutations of PROP1 were investigated by DNA sequencing. Clinical, hormonal and neuroradiological data were collected at each centre. RESULTS: PROP1 mutations were identified in all familial cases: five kindreds presented a c. 301-302delAG mutation, one kindred presented a c. 358C --> T (R120C) mutation and one presented a previously unreported initiation codon mutation, c. 2T --> C. Of the 29 sporadic cases, only two (6.9%) presented PROP1 germline mutations (c. 301-302delAG, in both). Phenotypic variability was observed among patients with the same mutations, particularly the presence and age of onset of hypocortisolism, the levels of PRL and the results of pituitary imaging. One patient presented a sellar mass that persisted into adulthood. CONCLUSIONS: This is the first report of a mutation in the initiation codon of the PROP1 gene and this further expands the spectrum of known mutations responsible for CPHD. The low mutation frequency observed in sporadic cases may be due to the involvement of other unidentified acquired or genetic causes.

Spontaneous regional heading of extensive skin lesions in diffuse cutaneous leishmaniasis (DCL)

The authors report a case of diffuse cutaneous leishmaniasis, with longstanding evolution and presenting with diffuse infiltrated lesions rich in amastigotes in the absence of mucosal involvement. In situ characterization with monoclonal antibodies revealed Leishmania amazonensis. Large regional lesions have presented spontaneous healing without specific therapy. Considering that DCL presents with a defect in the cellular immune response, thisfact demonstrate that this patient may develop a regional cellular immune response enough to destroy the parasites and to produce clearing of some lesions.

The compatibility of earth-based repair mortars with rammed earth substrates

3rd Historic Mortars Conference, 11-14 September 2013, Glasgow, Scotland