Browsing by Author "Rodrigues, M."
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- Avaliação da artéria subclávia direita na ecografia do primeiro trimestrePublication . Inocêncio, A.; Braga, A.; Gonçalves, D.; Galvão, A.; Rodrigues, S.; Macedo, J.; Rodrigues, M.OBJETIVO: Avaliar a artéria subclávia direita durante a ecografia do primeiro trimestre, descrever a técnica para a sua avaliação e, em caso de identificação de artéria subclávia direita aberrante (ARSA), determinar sua associação com alterações cromossómicas e/ou malformações cardíacas e sua orientação.
- Caso electroencefalográfico: esclerose tuberosaPublication . Zenha, R.; Costa, A.; Costa, M.; Rodrigues, M.; Chorão, R.ABSTRACT We present the case of a boy with in utero diagnosis of tuberous sclerosis (TS), suspected by the finding of cardiac rabdomyomas and confirmed by fetal brain MRI with typical subependymal nodules and sucortical tubers. We emphasise that epileptic spasms are very frequent and usually the presenting seizures is TS, as occurred in our patient. Electroencephalogram revealed an atypical hypsarrythmia, and the patient responded to vigabatrin. The need to be aware of this epileptic encephalopathy in TS and the importance of an early treatment are underlined.
- [Development of the short version of the informal caregiver burden assessment questionnaire]Publication . Martins, T.; Peixoto, M.; Araújo, F.; Rodrigues, M.; Pires, F.OBJETIVE to create a reduced version of the QASCI, which is structurally equivalent to the long one and meets the criteria of reliability and validity. METHOD Through secondary data from previous studies, the participants were divided into two samples, one for the development of reduced version and the second for study of the factorial validity. Participants responded to QASCI, the SF 36, the ADHS and demographic questions. RESULTS A reduced version of 14 items showed adequate psychometric properties of validity and internal consistency, adapted to a heptadimensional structure that assesses positive and negative aspects of care. CONCLUSION Confirmatory factor analysis revealed a good fit with the advocated theoretical model.
- Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report.Publication . Flor-de-Lima, F.; Macedo, L.; Taipa, R.; Melo-Pires, M.; Rodrigues, M.Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, "sausage-like" swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis
- Nonprimary Cytomegalovirus Fetal InfectionPublication . Rodrigues, S.; Gonçalves, D.; Taipa, R.; Rodrigues, M.Cytomegalovirus (CMV) is the most common congenital viral infection, causing hearing, visual and psychomotor impairment. Preexisting maternal CMV immunity substantially reduces, but not eliminates, the risk of fetal infection and affectation. This article is about a case of nonprimary maternal CMV infection during pregnancy, with vertical transmission, resulting in severe fetal affectation. Preconceptional analysis indicated maternal CMV past infection. Pregnancy progressed uneventfully until the 20th week ultrasound (US), which revealed cerebral abnormalities: thin and hyperechogenic cerebral cortex with prominent lateral ventricles, bilateral periventricular hyperechogenicities, cerebellar vermis hypoplasia and absent corpus callosum. The MRI suggested these findings were compatible with congenital infection rather than primary brain malformation.The fetal karyotype was normal. The title of CMV's IgG antibodies almost tripled. Since the first semester, analysis of the polymerase chain reaction (PCR) for CMV DNA in the amniotic fluid was negative. The pregnancy was terminated at 23 weeks. Neuropathological findings at autopsy showed severe brain lesions associated with CMV infection.
- Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to DyshormonogenesisPublication . Figueiredo, C.; Falcão, I.; Vilaverde, J.; Freitas, J.; Oliveira, M.; Godinho, C.; Dores, J.; Rodrigues, M.; Carvalho, C.; Borges, T.Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Magnetic resonance was suggestive of goiter causing airway deviation without polyhydramnios. Maternal thyroid function was normal and thyroid antibodies were negative. Two intra-amniotic levothyroxine infusions were performed at 32 and 33 weeks. Serial imaging control showed no progression of the mass. Elective caesarean section was performed at 38 weeks. The male newborn was admitted to the intensive care unit due to cardiorespiratory insufficiency with pulmonary hypertension. Hormonal assays revealed primary congenital hypothyroidism and ultrasonography confirmed diffuse goiter. Levothyroxine was started. Currently, he is 6 years old with adequate growth and normal psychomotor development. Genetic study found a heterozygous mutation in the TPO gene.
- Prenatal Diagnosis of Infantile Neuroaxonal DystrophyPublication . Pinto, F.; Pina, C.; Rodrigues, M.; Carrilho, I.; Saraiva, J.; Mendes, M.; Santos, J.; Martins, M.Infantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.
- Transfusão feto-fetal e transfusão feto-maternaPublication . Rodrigues, S.; Rocha, A.; Inocêncio, G.; Moreira, M.; Saraiva, J.; Dias, C.; Rodrigues, M.Introdução: Os autores descrevem um caso de transfusão feto materna (TFM) significativa com repercussão fetal, após ablação de anastomoses vasculares placentares, por síndrome de transfusão feto fetal (STFF). Caso Clínico:31 anos, saudável, primigesta, gravidez espontânea gemelar, monocoriónica biamniótica. A ecografia do 1º trimestre, efetuada às 12 semanas, mostrava concordância dos valores do comprimento crânio caudal (CCC), mas discordância dos valores da medida da translucência da nuca (TN). O rastreio combinado do 1º trimestre foi negativo. Às 16 semanas foi diagnosticado um STFF – estadio II/III de Quintero. A amniocentese revelou um cariótipo normal 46, XY no feto dador e um cariótipo anormal 47, XYY no feto receptor. Às 17 semanas foi efetuada ablação laser das anastomoses vasculares placentares, tendo ocorrido a morte do feto dador às 18 semanas. Às 22 semanas foi diagnosticada anemia fetal, por TFM, confirmada por citometria de fluxo. Às 26 semanas foi constatada dilatação de ansa intestinal - suspeita de atrésia intestinal. Parto por cesariana às 37 semanas. RN: sexo masculino, 2660g, Índice de Apgar 5/8/10. Confirmada atrésia ileal tipo II e efetuada enterectomia segmentar. Evolução clínica favorável. Conclusão: Trata-se de um caso de transfusão feto-fetal seguido de transfusão feto-materna, com atrésia intestinal em provável relação com anemia fetal, em feto com cromossomopatia
- Umbilical Cord Hemangioma with Pseudocyst: An Exceptional FindingPublication . Rocha, A.; Rodrigues, M.; Braga, J.