Chest computed tomography findings of patients infected with Covid-19 and their association with disease evolution stages.

INTRODUCTION: To describe CT findings in patients with confirmed Covid-19 infection and correlate them with the disease evolution stages. METHODS: This is a historical cohort observational analytical study carried out with outpatients, inpatients, and emergency patients from a private hospital in Maceió/AL, Brazil. The final sample consisted of 390 patients with positive RT-PCR for Covid-19 with available laboratory tests and chest CT results. RESULTS: The most frequent initial symptoms were cough, fever, dyspnea and headache. The most commonly found comorbidities were hypertension, diabetes mellitus and obesity. A total of 22% of the CT scans showed no alterations; ground-glass opacity was the most frequently found one. There was a significant association between age, comorbidities, pulmonary involvement, ground-glass opacity, mosaic attenuation and percentage of pulmonary involvement with death. The analysis of the disease stages showed a significant association with laboratory data (CRP and platelet levels), ground-glass opacity and mosaic attenuation with the disease evolution stages in relation to the days since symptom onset. CONCLUSION: The disease evolution of Covid-19 occurs in stages, and this study describes tomographic findings in patients with confirmed Covid-19 infection and shows they vary depending on the disease evolution stages. IMPLICATIONS FOR PRACTICE: This paper provides important addition to the various records that have been accumulated through the Covid-19 pandemic.

Histological characterization of Darier's disease in Tunisian families.

BACKGROUND: Darier's disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase type 2 isoform (SERCA2). OBJECTIVE: We report histological investigations of six unrelated Tunisian families including 15 affected individuals with Darier's disease mutations. RESULTS: The typical histological features of Darier's disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian patients ranging from mild to moderate lesions of Darier's disease. A significant correlation has been observed between the clinical presentation of the Darier's disease (mild or moderate) and the intensity of the histological features. Isolated acral form of Darier's disease was seen in one case. Two distinct original associations have been observed: Darier's disease/pemphigus vulgaris in one patient and Darier's disease/ichtyosis in the other patient. CONCLUSION: Our findings confirmed the clinical heterogeneity of Darier's disease on the basis of histological study. The intensity of the histological features could be closely correlated to the severity of Darier's disease clinical presentation.

Supernumerary nipples in association with Hailey-Hailey disease in a Tunisian family.

Supernumerary nipples (SNs) or polythelia are developmental abnormalities of breast tissue. They are located along the embryonic mammary lines. Polythelia usually occurs as a sporadic abnormality, although familial aggregation has been occasionally reported. Hailey-Hailey disease is a rare autosomal genodermatosis characterized by disturbed keratinocyte adhesion. These cutaneous disorders have been described in correlation with many other abnormalities. We report here the association of Hailey-Hailey disease and supernumerary nipples in a Northern Tunisian family. To our knowledge, this is the first report of such a clinical association.

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

Tyrosinemia type II or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, mental retardation, and elevated blood tyrosine levels. The disease is due to a deficiency of hepatic cytosolic tyrosine aminotransferase (TATc), an enzyme involved in the tyrosine catabolic pathway. Because of the high rate of consanguinity this disorder seems to be relatively common among the Arab and Mediterranean populations. RHS is characterized by inter and intrafamilial phenotypic variability. A large spectrum of mutations within TATc gene has been shown to be responsible for RHS. In the present study, we report the clinical features and the molecular investigation of RHS in three unrelated consanguineous Tunisian families including 7 patients with confirmed biochemical diagnosis of tyrosinemia type II. Mutation analyses were performed and two novel missense mutations were identified (C151Y) and (L273P) within exon 5 and exon 8, respectively. The 3D-structural characterization of these mutations provides evidence of defective folding of the mutant proteins, and likely alteration of the enzymatic activity. Phenotype variability was observed even among individuals sharing the same pathogenic mutation.

Hospitexte: towards a document-based hypertextual electronic medical record.

The patient record is a repository for knowledge about a patient. Work in Artificial Intelligence and knowledge representation has evidenced the intrinsic difficulty of formalizing knowledge for computer processing. It is therefore not a surprise that most attempts at computerizing the patient record have only had a limited degree of success or applicability. We claim that this is due to the fact that medicine is an empirical domain, and thus fundamentally resists formalization. Therefore, the only way medical knowledge can be fully expressed is through natural languages which is indeed what clinicians actually use. We proposed and designed an electronic medical record which adheres to this hypothesis and where structured documents play a prominent role.