1194 research outputs found
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Fístula perilinfática e pneumolabirinto pós-traumáticos, sem fratura do osso temporal
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Benefício da reabilitação respiratória na asma do adulto
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Therapeutic challenge of a paediatric case of Graves' disease with severe ophthalmopathy
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Penetração Intra-Gástrica do Tubo Conector de Banda Gástrica Colocada por Via Laparoscópica
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Surgery versus expectant observation in clinically non-functioning pituitary adenomas - a 20-year single centre experience
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Primary adrenal insufficiency in adult population: a Portuguese multicentre study by the Adrenal Tumours Study Group
Full text linkINTRODUCTION:
Primary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. No previous studies have characterized Portuguese patients with PAI.
AIMS:
To characterize the clinical presentation, diagnostic workup, treatment and follow-up of Portuguese patients with confirmed PAI.
METHODS:
This multicentre retrospective study examined PAI patients in 12 Portuguese hospitals.
RESULTS:
We investigated 278 patients with PAI (55.8% were females), with a mean age of 33.6±19.3 years at diagnosis. The most frequent presenting clinical features were asthenia (60.1%), mucocutaneous hyperpigmentation (55.0%) and weight loss (43.2%); 29.1% of the patients presented with adrenal crisis. Diagnosis was established by high plasma ACTH and low serum cortisol in most patients (43.9%). The most common etiology of PAI was autoimmune adrenalitis (61.0%). There were 38 idiopathic cases. Autoimmune comorbidities were found in 70% of the patients, the most frequent being autoimmune thyroiditis (60.7%) and type 1 diabetes mellitus (17.3%). Seventy-nine percent were treated with hydrocortisone (mean dose 26.3±8.3 mg/day) mostly in three (57.5%) or two (37.4%) daily doses. The remaining patients were treated with prednisolone (10.1%), dexamethasone (6.2%) and methylprednisolone (0.7%); 66.2% were also on fludrocortisone (median dose of 100 g/day). Since diagnosis, 33.5% of patients were hospitalized for disease decompensation. In the last appointment, 17.2% of patients had complaints (7.6% asthenia and 6.5% depression) and 9.7% had electrolyte disturbances.
CONCLUSION:
This is the first multicentre Portuguese study regarding PAI. The results emphasize the need for standardization in diagnostic tests and aetiological investigation and provide a framework for improving treatment.info:eu-repo/semantics/publishedVersio
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
Full text linkMutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonly reported. We performed array comparative genomic hybridization (aCGH) (Agilent 180K) and quantitative PCR analysis in a female patient with intellectual disability. A clinical comparison between our patient and overlapping cases reported in the literature was also made. The patient carries a de novo 600 Kb deletion at 10q26.3 affecting the MGMT, EBF3, and GLRX genes. The patient has severe intellectual disability, language impairment, conductive hearing loss, hypotonia, vision alterations, triangular face, short stature, and behavior problems. This presentation overlaps that reported for patients carrying EBF3 heterozygous point mutations, as well as literature reports of patients carrying large 10qter deletions. Our results and the literature review suggest that EBF3 haploinsufficiency is a key contributor to the common aspects of the phenotype presented by patients bearing point mutations and indels in this gene, given that deletions affecting the entire gene (alone or in addition to other genes) are causative of a similar syndrome, including intellectual disability (ID) with associated neurological symptoms and particular facial dysmorphisms.info:eu-repo/semantics/publishedVersio
Influência do diâmetro da prótese nos resultados auditivos e lesão acústica após estapedotomia
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Disfonia como sintoma de apresentação de cancro cérvico-torácico
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Role of the "other Babinski sign" in hyperkinetic facial disorders
Full text linkBACKGROUND:
The "other Babinski sign" consists in the co-contraction of the orbicularis and frontalis muscles, causing an eyebrow elevation during ipsilateral eye closure. It cannot be voluntarily reproduced.
AIMS OF THE STUDY:
To determine the utility of this sign in the differential diagnosis of hyperkinetic facial disorders.
METHODS:
The presence of the sign was assessed in consecutive patients with blepharospasm, primary hemifacial spasm or post-paralytic facial syndrome treated in a botulinum toxin outpatient clinic.
RESULTS:
Of the 99 patients identified, 86 were included, 41 with blepharospasm (32 female, mean age 71±11years), 28 with hemifacial spasm (16 female, mean age 65±12years) and 17 with post-paralytic facial syndrome (14 female, mean age 50±17years). The sign was detected in 67.9% of the patients with hemifacial spasm, in 23.5% of the post-paralytic facial syndrome group and in none of the patients with blepharospasm, exhibiting a sensitivity of 51% and a specificity of 100% for the diagnosis of hemifacial spasm/post-paralytic facial syndrome and a specificity of 76% for hemifacial spasm, compared to post-paralytic facial syndrome.
CONCLUSIONS:
This sign is highly specific for the diagnosis of peripherally induced hyperkinetic facial disorders. Its assessment should integrate the routine examination of patients with abnormal facial movements.info:eu-repo/semantics/publishedVersio