RESUMEN

Papillon-Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients.

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RESUMEN

The purpose of this study is to assess the effects of propacetamol on attenuating hemodynamic responses subsequent laryngoscopy and tracheal intubation compared to lidocaine. In this randomized clinical trial, 62 patients with the American Anesthesiologists Society (ASA) class I/II who required laryngoscopy and tracheal intubation for elective surgery were assigned to receive propacetamol 2 g/I.V./infusion (group P) or lidocaine 1.5 mg/kg (group L) prior to laryngoscopy. Systolic and diastolic blood pressures (SBP, DBP), mean arterial pressure (MAP), and heart rate (HR) were recorded at baseline, before laryngoscopy and within nine minutes after intubation. In both groups P and L, MAP increased after laryngoscopy and the changes were statistically significant (P < 0.001). There were significant changes of HR in both groups after intubation (P < 0.02), but the trend of changes was different between two groups (P < 0.001). In group L, HR increased after intubation and its change was statistically significant within 9 minutes after intubation (P < 0.001), while in group P, HR remained stable after intubation (P = 0.8). Propacetamol 2 gr one hour prior intubation attenuates heart rate responses after laryngoscopy but is not effective to prevent acute alterations in blood pressure after intubation.

RESUMEN

Papillon-Lefèvre syndrome (PLS) is a rare, autosomal recessive heterogeneous disorder, which is characterized by palmoplantar hyperkeratosis, early loss of primary and permanent teeth, and associated calcification of the dura mater. Herein we described six cases of PLS in the same family. In this series, six cases (two females and four males) with the mean age of 15.6 ± 10.4 years were recruited. Palmoplantar hyperkeratosis was detected in all of the cases, leading to a difficult and painful walking in two cases due to lesions on the soles. Skin lesions were sharply distinct from adjacent normal skin in all cases. Other skin lesions were located in the external malleolus (5/6), knee (4/6), elbow (4/6), toe and dorsal fingers (3/6), and the thighs (2/6). In three cases, all permanent teeth were exfoliated. In three others, no primary teeth remained. Severe gingivitis was observed in three patients. Radiologic study confirmed alveolar bone destruction in five cases. Delayed diagnosis and insufficient treatment of PLS patients can affect patient's life of by causing edentulism at a young age and may impose PLS patients to increased risk of social, psychological, and economical burdens.