Respiratory distress in Pierre Robin sequence: an experience with mandible traction by wires.

Congenital retrognathia and glossoptosis characterize isolated Pierre Robin sequence (iPRS); the small mandible and its retracted position cause retrodisplacement of the tongue and reduction of the oropharyngeal airway. These neonates may be affected by airway obstruction, feeding difficulties, failure to thrive, and chronic hypoxaemia. To solve the respiratory problems secondary to glossoptosis, various treatments have been described including prone positioning, a nasopharyngeal tube, glossopexy, and mandibular distraction. Over the last 28 years, the authors have treated 118 neonates and infants affected by iPRS by carrying out traction of the mandible using two parasymphyseal wires, positioned under local anaesthesia. All the procedures were successful, with no major complication. The patients' respiratory problems and apnoea disappeared suddenly after beginning traction.

Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex genetic trait and little is known about its aetiology. Recent investigations on rare clefting syndromes provided interesting clues about genes involved in face development. The PVRL1 gene encodes nectin1, a cell-to-cell adhesion molecule. Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. In the present study, we screened 143 Italian CL/P patients for mutations in PVRL1. Three rare sequence variants in exon 3 that create amino-acid changes were detected in a total of 7 patients. Two of these mutations were not found in a panel of 292 unaffected controls, while the third was found in two controls. This study describes new mutations that may represent genetic risk factors for CL/P. Even though a study to look at the effects of the mutations on nectin1 function was not feasible, supporting evidence was reported, thus confirming the involvement of PVRL1 in the aetiology of non-syndromic CL/P malformation.

Intracranial dislocation of the mandibular condyle: report of two cases and review of the literature.

Fractures of the mandibular condylar process are common and account for up to 40% of all mandibular fractures. Penetration of the condylar head into the middle cranial fossa is, however, rare. We have found reports of only 43 cases since 1834. The diagnosis of intracranial condylar dislocation is difficult, there are usually no particular symptoms or neurological signs. As a result, detailed radiological studies are necessary. In the absence of clear radiographic images of the condylar structures, computed tomography (CT) is essential to locate the fragments and to investigate and monitor intracranial lesions. This paper describes the diagnostic and surgical procedures used in two cases of condylar dislocation and discusses them with reference to previous cases. The use of a titanium screw, which was positioned intracranially in the first case, has not, to our knowledge, been described previously.

Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft.

Linkage analysis and mouse model knockout studies indicate that loci/genes mapping in different chromosome 1 regions are good candidates for nonsyndromic orofacial cleft (OFC) malformation. On this basis, three different regions of the chromosome 1 have been analysed, by linkage analysis, in 38 families with nonsyndromic OFC. Positive scores were obtained by pairwise analysis and a non-parametric linkage approach for the 1p36 region, with markers close to the MTHFR locus. Additional results allowed us to exclude the presence of an OFC susceptibility gene in the 1q21 and 1q32-42.3 regions.

Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation.

Nonsyndromic cleft lip with or without cleft palate (OFC) is a common birth defect that has genetic bases. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. We examined linkage between BCL3, a proto-oncogene located in 19q13.2, and OFC in a sample composed of 40 multiplex pedigrees using both nonparametric and parametric methods. The affected pedigree member statistics and the transmission disequilibrium test supported a role for BCL3 in causing OFC, while no evidence of linkage or genetic heterogeneity was found with the lod score method.

Primary malignancies of the nasal fossa and paranasal sinuses: comparison between UICC classification and a new staging system.

There is not a general accepted classification for tumor of nasal cavity and paranasal sinuses, and furthermore, there is a lack in the most commonly used T staging, the Union Internationale Contre Cancer (UICC) and the American Joint Committee on Cancer systems, which offer a classification strictly for tumors of the maxillary antrum. A new T staging (NTS) has been proposed: It is applicable to neoplasms arising from the mucosa of nasal fossa and all paranasal sinuses. To evaluate the advantages of NTS, a retrospective analysis of 54 cases of paranasal sinus cancers in patients admitted between 1983 and 1993 was undertaken. Tumors were staged according to UICC and to NTS systems, and then a statistical comparison was performed. Univariate analysis stratified according with T stage, tumors origin, and treatment modalities demonstrated different survival rates in both systems. Multivariate analysis showed a higher risk of death into the T4 category coded according with NTS with respect to UICC system. We concluded that NTS offers some advantages: (1) It presents a general view of the maxillofacial cavities; (2) it prognosticates successfully for T stage (1-4); (3) it gives significant improvement in detecting the risk of death for T4 when compared with the UICC system.

Cancer of the nasal cavity and paranasal sinuses: a new staging system.

This study proposes a new staging system for cancer of the paranasal sinuses on the basis of two concepts. The first concept is that the nasal cavity and the paranasal sinuses form a single unit. Consequently, the mucosa of each sinus may give rise to tumors. The histopathologic variation will be the same for all these cavities. The second concept is that the staging of these tumors depends both on the nature of the neoplastic cells and on the specific bone boundaries which surround the anatomic site and subsites. We analyzed 61 cases and we emphasize the need for a differential analysis of T4 tumors depending on which adjacent region is involved.

[Dynamic magnetic resonance of the temporomandibular joint. Observations and findings]. / La risonanza magnetica dinamica dell'articolazione temporomandibolare. Osservazioni e rilievi.

Condylar movements can be executed only if the TMJ morphology can satisfy functional needs of the masticatory apparatus. Articular components have to be in good relation with dento-skeletal functional anatomy: if this does not occur, mandibular dynamics may establish some functional stresses on the condylar head and the articular eminence. These overloaded structures and particularly their functional surfaces react to this situation to be remodelling and deformation of the articular cavity. In our work we have used a new method to analyse condylar dynamics using MRI. The reconstruction of mandibular movements, using this instrumentation, permits to make some useful observations on the functional capability of TMJ to adjust itself to different maxillofacial morphologies and, consequently, how this joint can fall in a dysfunctional and pathological condition.

Humoral response to Mycobacterium tuberculosis in patients with human immunodeficiency virus infection.

The effect of the human immunodeficiency virus (HIV) on mycobacterial antibody production was investigated. Using an enzyme-linked immunosorbent assay (ELISA) for detecting IgG against Mycobacterium tuberculosis PPD, it was observed that individuals at risk of HIV infection show a pattern of humoral response to the tubercle bacillus similar to that previously found in the immunocompetent population not exposed to risk factors: 6 of 12 (50.0%) tuberculosis cases had elevated levels of antibodies to PPD and 27 of 30 (90.0%) asymptomatic individuals had antibody levels within the normal range. In an HIV-seropositive group without AIDS indicator diseases, 8 of 22 (36.4%) tuberculous patients had detectable mycobacterial antibodies whereas 156 of 164 (95.1%) non-tuberculous subjects did not. Among AIDS cases, only 1 of 20 (5.0%) patients with tuberculosis and none of 53 non-tuberculous subjects showed a positive result. The study evidenced an increasing humoral unresponsiveness to PPD in the progression of HIV infection to AIDS. Thus, a serodiagnostic method for detecting tuberculosis such as the ELISA here employed noticeably decreases its utility in the latency stage of the HIV infection, and it is practically useless in clinical AIDS.

Pharmacokinetics and tumor concentration of intraarterial and intravenous cisplatin in patients with head and neck squamous cancer.

Tumor-tissue platinum levels and major pharmacokinetic parameters were determined in 11 patients with head and neck squamous cancer (HNSC) who were given cisplatin (50 mg/m2 daily x 2 days) and 5-fluorouracil (5-FU; 1000 mg/m2, continuous infusion x 5 days) either i.a. or i.v. The plasma peak platinum concentrations (cmax) and the areas under the curve for total platinum concentration versus time (AUC) during i.a. infusions were lower than the i.v. cmax (mean, 1.92 +/- 0.28 and 4.08 +/- 2.80 mg/l, for i.a. and i.v. infusions, respectively) and AUC values (mean, 22.55 +/- 4.96 and 40.66 +/- 10.71 mg h-1 l-1 for i.a. and i.v. treatment, respectively), suggesting a first-passage extraction of the drug by the tumor mass during i.a. infusion. However, no statistically significant difference was found in platinum tumor concentrations after i.a. administration versus i.v. infusion. The lack of a difference in tumor platinum concentrations between the i.a. and the i.v. administration routes might be explained either by a relatively high blood supply to the tumor area, enabling efflux of the surplus free platinum from the tissue, or by the delay between drug infusion and biopsy. After three cycles of i.a. treatment good tumor remission was obtained with minimal local toxicity. Larger clinical studies testing the advantages of the i.a. administration route over i.v. infusion appear to be necessary.

[Evaluation of an enzyme immunoassay for the rapid diagnosis of paucibacillary tuberculosis in adults]. / Evaluación del enzimoinmunoensayo para el diagnóstico rápido de la tuberculosis paucibacilar del adulto.

The ELISA has been extensively evaluated as a serodiagnostic method for tuberculosis. However, there is scarce information about its application to cases that cannot be diagnosed by microscopic examination: those with closed lesions or undergoing early stages of the disease. Since a reliable serological test might substantially contribute to their prompt detection, the objective of the present study was to determine the diagnostic value of an ELISA applied to adult smear-negative cases of tuberculosis. Sera from 235 patients with active tuberculosis--176 pulmonary and 59 extrapulmonary cases--and 181 control subjects were tested for IgG antibodies to PPD by ELISA. Eleven cases of non tuberculous mycobacterial (MOTT) disease and 33 cases of mycosis were also included in this group. With the adopted cut-off value, 73.9% (105/142) of smear positive and 52.7% (49/93) of smear negative tuberculosis cases, were correctly classified. Particularly in the latter, the test was positive in 55.2% (32/58) of patients with positive cultures for Mycobacterium tuberculosis and in 48.6% (17/35) of patients diagnosed by clinical, radiological and or histopathological findings. No antibody activity was demonstrated in 92.7% of sera from the control population which included 92 healthy volunteers, 32 non tuberculous diseased subjects and 13 household contacts of smear-positive cases. Among those control subjects who were skin tested, ELISA results were not related to the tuberculin reactivity: 93.7% (30/32) of tuberculin negative and 95.2% (40/42) of tuberculin positive healthy individuals had no detectable antibodies.(ABSTRACT TRUNCATED AT 250 WORDS)

Evaluacion del enzimoinmunoensayo para el diagnostico rapido de la tuberculosis paucibacilar del adulto / Evaluation of an enzymoimmunoassay for the rapid diagnosis of adult tuberculosis

Se evaluó un enzimoinmunoensayo (EIE) para la detección de anticuerpos IgG circulantes anti-PPD en el diagnóstico de la tuberculosis paucibacilar del adulto. El 73,9% de 142 pacientes bacilíferos y el 52,7% de 93 casos con baciloscopia negativa resultaron seropositivos por EIE. Particularmente en este último grupo la prueba fue positiva en el 55,25 de 58 pacientes diagnosticados por cultivo y en el 48,6% de 35 pacientes con diagnóstico clínico-radiológico de tuberculosis. El 92,7% de 137 sueros de la población control carecia de anticuerpos detectables. En los sujetos sanos que fueron tuberculinizados los resultados del EIE no se realacionaron con la respuesta tuberculínica: el 93.7% (30/32) de los tuberuclino negativos y el 95,2% (40/42) de los reactores a la tuberculina fueron negativos por EIE. Trece de 33 casos de PPD. Ciertamente el EIE tuvo máxima sensibilidad en la detección de casos bacilíferos, no obstante permitió identificar también a más de la mitad de los pacientes con baciloscopia negativa. Por lo tanto, puede ser considerado um método útil para el diagnóstico presuntivo rápido de la tuberculosis paucibacilar, excepto en los casos en los que se plantee el diagnóstico diferencial con micosis o con otras micobacterosis (AU)

Evaluacion del enzimoinmunoensayo para el diagnostico rapido de la tuberculosis paucibacilar del adulto / Evaluation of an enzymoimmunoassay for the rapid diagnosis of adult tuberculosis

Se evaluó un enzimoinmunoensayo (EIE) para la detección de anticuerpos IgG circulantes anti-PPD en el diagnóstico de la tuberculosis paucibacilar del adulto. El 73,9% de 142 pacientes bacilíferos y el 52,7% de 93 casos con baciloscopia negativa resultaron seropositivos por EIE. Particularmente en este último grupo la prueba fue positiva en el 55,25 de 58 pacientes diagnosticados por cultivo y en el 48,6% de 35 pacientes con diagnóstico clínico-radiológico de tuberculosis. El 92,7% de 137 sueros de la población control carecia de anticuerpos detectables. En los sujetos sanos que fueron tuberculinizados los resultados del EIE no se realacionaron con la respuesta tuberculínica: el 93.7% (30/32) de los tuberuclino negativos y el 95,2% (40/42) de los reactores a la tuberculina fueron negativos por EIE. Trece de 33 casos de PPD. Ciertamente el EIE tuvo máxima sensibilidad en la detección de casos bacilíferos, no obstante permitió identificar también a más de la mitad de los pacientes con baciloscopia negativa. Por lo tanto, puede ser considerado um método útil para el diagnóstico presuntivo rápido de la tuberculosis paucibacilar, excepto en los casos en los que se plantee el diagnóstico diferencial con micosis o con otras micobacterosis

Evaluación del enzimoinmunoensayo para el diagnóstico rápido de la tuberculosis paucibacilar del adulto. / [Evaluation of an enzyme immunoassay for the rapid diagnosis of paucibacillary tuberculosis in adults]

The ELISA has been extensively evaluated as a serodiagnostic method for tuberculosis. However, there is scarce information about its application to cases that cannot be diagnosed by microscopic examination: those with closed lesions or undergoing early stages of the disease. Since a reliable serological test might substantially contribute to their prompt detection, the objective of the present study was to determine the diagnostic value of an ELISA applied to adult smear-negative cases of tuberculosis. Sera from 235 patients with active tuberculosis--176 pulmonary and 59 extrapulmonary cases--and 181 control subjects were tested for IgG antibodies to PPD by ELISA. Eleven cases of non tuberculous mycobacterial (MOTT) disease and 33 cases of mycosis were also included in this group. With the adopted cut-off value, 73.9

(105/142) of smear positive and 52.7

(49/93) of smear negative tuberculosis cases, were correctly classified. Particularly in the latter, the test was positive in 55.2

(32/58) of patients with positive cultures for Mycobacterium tuberculosis and in 48.6

(17/35) of patients diagnosed by clinical, radiological and or histopathological findings. No antibody activity was demonstrated in 92.7

of sera from the control population which included 92 healthy volunteers, 32 non tuberculous diseased subjects and 13 household contacts of smear-positive cases. Among those control subjects who were skin tested, ELISA results were not related to the tuberculin reactivity: 93.7

(30/32) of tuberculin negative and 95.2

(40/42) of tuberculin positive healthy individuals had no detectable antibodies.(ABSTRACT TRUNCATED AT 250 WORDS)