Browsing by Author "Ramos, L"
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- Benign follicular tumorsPublication . Tellechea, O; Cardoso, JC; Reis, JP; Ramos, L; Gameiro, AR; Coutinho, I; Baptista, APBenign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients.
- Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patientsPublication . Carreira, IM; Ferreira, SI; Matoso, E; Pires, LM; Ferrão, J; Jardim, A; Mascarenhas, A; Pinto, M; Lavoura, N; Pais, C; Paiva, P; Simões, L; Caramelo, F; Ramos, L; Venâncio, M; Ramos, F; Beleza, A; Sá, J; Saraiva, J; Barbosa de Melo, JArray-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV).
- Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 genePublication . Santos, MI; Beleza-Meireles, A; Loureiro, S; Fonseca, M; Reis, CF; Rodrigues, F; Ramos, F; Ramos, L; Cardoso, E; Saraiva, JMAims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three patients show the typical characteristics (facial appearance, musculoskeletal abnormalities, cognitive impairment, growth retardation and peculiar dermatoglyphic pattern) associated with other anomalies described in the syndrome (congenital heart disease and increased susceptibility to infections). Genetic studies revealed a nonsense mutation c.14710 C > T (p.Arg4904X) in the MLL2 gene in the three members of the family. Conclusions: With the description of another case of familial Kabuki syndrome, the authors wish to illustrate the autosomal dominant inheritance with variable expressivity, which are present in this situation, and to alert to the need for a rigorous clinical and molecular evaluation of the affected patient’s relatives, allowing appropriate genetic counseling.
- Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosisPublication . Soares, R; Neto, P; Pereira, N; Cunha, C; Pinto, C; Fonseca, M; Ramos, L; Galhano, EDilated fetal bowel is a sonographic fi nding that is associated to meconium ileus, a feature of cystic fi brosis (CF). Prenatal diagnosis of CF is possible through analysis of the cystic fi brosis transmembrane regulator gene mutations. A male infant is described, who was referred to our Prenatal Diagnosis Center a 17th week of gestation with a dilated bowel loop on a prenatal scan. Amniocentesis was performed at 23rd week gestation and a homozygous F508del mutation was found. He was born at 38 weeks gestation, after an otherwise unremarkable pregnancy, and admitted to Neonatal Intensive Care Unit. He showed progressive abdominal distension without stools and was transferred to another Hospital to surgery. A total occlusion of terminal ileum with meconium and a microcolon were found, and resection of 8 cm of ileum and an ileostomy were performed. The characteristic sonographic fi nding of a dilated bowel is an indication to search for CF mutations.
- Estudo clínico, multicêntrico, aberto para avaliar a eficácia e a tolerância do sildenafil no tratamento de doentes com disfunção eréctilPublication . Palha, AP; Gomes, A; Martins, AS; Pimenta, A; Neves, J; Gonçalves, R; Ramos, L; Abrantes, P; Canhão, A; Santos, G; Carvalho, LF; Soares, J; Lima, E; Rosa, GErectile dysfunction (ED), defined by the Impotence-NIH Consensus Conference as the "persistent inability to achieve and/or maintain erection sufficient for satisfactory sexual activity" affect more than 100 million men worldwide, at particular severity levels. The global prevalence of ED is estimated to affect about 10%, but has been found to increase significantly with age (39% in men 40 years of age and 67% at 70 years of age). In men aged 40 to 70 years, the severe ED prevalence increased of three folds, 5 to 15%. In order to evaluate the efficacy and tolerance of sildenafil, it was conducted a national open, multicentre study on a portuguese population affected by ED. Subjects under ambulatory treatment were recruited in Psychiatry/Sexology Clinical units and Urology/Andrology. The results of the study carried out on a group of 62 men with ED, demonstrate that sildenafil was effective in the recovering of erectile function, increasing the number of attempts to sexual activity and improving their success rates (mainly in severe dysfunction). Fifty one patients treated with sildenafil, at the end of the study referred a global improvement in their erections (92.2%). Doses of 50 mg and 100 mg sildenafil were used and were well tolerated and also effective in the treatment of this pathology (70% and 69% respectively). Being this study a flexible dose one and taking into consideration that the final dose used was found the more suitable to the patients, can be concluded that 43.1% of the patients elected dose of 50 mg whereas 56.9% elected the maximum prescribed dose of 100 mg. Over and above global efficacy experimented by patients, a significant improvement in the sexual activity with partners was occurred. These results make possible a final conclusion--in the studied patients group affected by Erectile Dysfunction, aside from associated somatic pathology, sildenafil use provided a remarkable clinical profit, in what concerns global efficacy, by erectile function mechanisms improvement, concerning patients sensitivity of improvement, occurring in the major part of them, being these of high importance to the lifting up of their self-esteem
- Hiperplasia congénita da supra-renal: quando o mesmo genótipo tem diferentes fenótiposPublication . Cordinhã, C; Morais, S; Cardoso, R; Ramos, L; Taborda, A; Mirante, A
- Intellectual disability, unusual facial morphology and hand anomalies in sibsPublication . Sousa, SB; Venâncio, M; Chanudet, E; Palmer, R; Ramos, L; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RCHere we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance.
- Methylisothiazolinone: second 'epidemic' of isothiazolinone sensitizationPublication . Gameiro, A; Coutinho, I; Ramos, L; Gonçalo, Margarida
- MÓDULO 2 - 2º Curso de Formação para Internos 2013 - 2014:Pediatria AmbulatóriaPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Oliva, M; Dinis, I; Correia, AJ; Soares, R; Fonseca, P; Ramos, L; Mirante, A
- Phenotyping GABA transaminase deficiency: a case description and literature reviewPublication . Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, PGamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range <16), as well as serum growth hormone (7.7 ng/ml; normal range <1). Brain magnetic resonance imaging (MRI) showed decreased myelination and generalized brain atrophy, later confirmed by post-mortem examination. ABAT gene sequencing was performed post-mortem, identifying a homozygous variant c.888G > T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.