Periodontal Manifestations and Ambulatorial Management in a Patient With Sturge Weber Syndrome

Sturge-Weber syndrome is a nonhereditary congenital condition characterized by leptomeningeal and facial skin angiomatous malformation following the trigeminal nerve path. The intraoral angiomatosis are presented in 40% of cases and results in an important periodontal alteration, increasing the risk of bleeding during dental procedures. A 43-year-old male patient presented with port wine stain on the right side of the face, the entire hard and soft palates, the alveolar ridge, and buccal mucosa, and had an excessive accumulation of calcified masses in both supragingival and subgingival sites, with swelling and generalized inflammation throughout the gingiva and alveolar mucosa. He reported not having sanitized the area for years for fear of bleeding. Periodontal management, to remove calculus and to control gingivitis initiated in the supragingival region and gradually reaching the subgingival region to control oral microbiota, was performed with mild bleeding. The redness of the staining greatly diminished with time and the extreme halitosis of the patient also improved sharply leading to a dramatic improvement in quality of life. Ambulatory care is a feasible alternative for periodontal management that within safety limits for bleeding risks reduces the operational cost.

Avaliação psico-educacional de uma adolescente portadora da síndrome de Sturge-Weber

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Síndrome de Sturge-Weber: relato de caso

Contexto: É descrita uma síndrome congênita rara e suas manifestações típicas visando seu diagnóstico precoce. Descrição do caso: Pacientedo sexo feminino, com 15 anos de idade, com glaucoma congênito em acompanhamento pelo Serviço de Oftalmologia da UniversidadeEstadual Paulista (Unesp) foi encaminhada ao Serviço de Dermatologia com um ano de idade devido a manchas eritêmato-violáceasextensas distribuídas nos dois terços superiores da hemiface esquerda e em outras localidades do corpo desde o nascimento. A mãerelatava convulsões desde um ano e atraso do desenvolvimento neuropsicomotor. Nos antecedentes familiares, negava casos semelhantes.O diagnóstico da Síndrome de Sturge-Weber foi estabelecido pelo quadro clínico característico e pelos exames complementares quedemonstraram, no sistema nervoso central, atrofia e calcificação corticais, além de alterações oftalmológicas como glaucoma e buftalmo.Discussão: A síndrome de Sturge-Weber ocorre em 1 a cada 20.000 a 50.000 nascidos vivos e é caracterizada por malformações vascularesmanifestadas por manchas eritêmato-violáceas, mais conhecidas como manchas vinho do Porto , localizadas no território do ramooftálmico do nervo trigêmeo, com acometimento neurológico e possível acometimento ocular. O prognóstico depende das complicaçõesneurológicas, as quais não guardam relação com a extensão das lesões cutâneas. Conclusões: Relata-se afecção rara, cujo diagnósticoprecoce direciona o acompanhamento multidisciplinar.

Sciatic nerve enlargement in the Klippel-Trenaunay-Weber syndrome

The case of a 35-year-old woman with Klippel-Trenaunay-Weber syndrome (KTWS) showing clinical symptoms of a peroneal nerve lesion is presented. An immense nerve enlargement along most of the sciatic, peroneal and tibial nerve was found to be due to a lipoma arising from the epi- and perineurium. Treatment consisted of extensive microsurgical neurolysis and excision of the tumor resulting in decompression of the affected nerves. Although rare, a perineural lipoma should be kept in mind in patients with KTWS showing neurological abnormalities.

Filtration procedures supplemented with mitomycin C in the management of childhood glaucoma

Aims - To evaluate the outcome of filtering procedures supplemented with mitomycin C in children with glaucoma. Methods - All patients aged 17 or younger with glaucoma who underwent filtering surgery supplemented with mitomycin C at a tertiary care centre (n = 21) during a 5 year interval (1992 and 1996) were included. One eye for each patient was entered into the analysis. The postoperative intraocular pressure (IOP), use of antiglaucoma medications, clinical stability of glaucoma, complications, and visual acuity were retrospectively evaluated. Kaplan-Meier survival curves were used to estimate the probability of success. Results - At the time of surgery mean age was 5.7 (SD 5.0) years. The most common diagnoses were trabeculodysgenesis (n = 6) and aphakic glaucoma (n = 8). Mean IOP before surgery was 35.7 (10.5) mmHg. Average length of follow up was 18.6 (14.7) months. The probability of having IOP less than 21 mmHg with no antiglaucoma medications and with clinically stable glaucoma 1 year after surgery was 76.9% in phakic eyes (n = 13) and 0% in aphakic eyes (n = 8). A phakic patient with Sturge-Weber's syndrome had choroidal effusion after surgery that resolved spontaneously. In the aphakic group one patient had retinal detachment and another developed an encapsulated bleb. Visual acuity deteriorated in one patient. Conclusion - A guarded filtration procedure with mitomycin C is relatively successful in phakic children with glaucoma, but unsuccessful in aphakic ones.

Therapy of acute massive pulmonary embolism associated with Klippel-Trenaunay syndrome.

Acute massive pulmonary embolism (PE) is a life-threatening event. Before the era of cardiopulmonary bypass, acute pulmonary embolectomy had been historically attempted in patients with severe hemodynamic compromise. The Klippel-Trenaunay syndrome (KTS) represents a significant life-long risk for major thromboembolic events. We present two young patients with Klippel-Trenaunay syndrome who survived surgical embolectomy after massive PE and cardiopulmonary resuscitation, with good postoperative recovery. Even though the role of surgical embolectomy in massive PE is not clearly defined, with current technology it can be life saving and can lead to a complete recovery, especially in young patients as described in this study.

Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners

Utilizing DNA samples from 91 Afrikaner nuclear families with one or more affected children, five genomic regions on chromosomes 2p, 8q, 11q, 20q, and 21q that gave evidence for association with GTS in previous case-control association studies were investigated for linkage and association with GTS. Highly polymorphic markers with mean heterozygosity of 0.77 were typed and resulting genotypes evaluated using single marker transmission disequilibrium (TDT), single marker haplotype relative risk (HRR), and multi-marker "extended" TDT and HRR methods. Single marker TDT analysis showed evidence for linkage or association, with p-values near 0.05, for markers D2S139, GATA28F12, and D11S1377 on chromosomes 2p11, 8q22 and 11q23-24, respectively. Extended, two-locus TDT and HRR analysis provided further evidence for linkage or association on chromosome 2 with p-values of 0.007 and 0.025, and chromosome 8 with p-values of 0.059 and 0.013, respectively. These results provide important additional evidence for the location of GTS susceptibility loci.

Outcome of patients with acute coronary syndrome in hospitals of different sizes. A report from the AMIS Plus Registry.

To assess the impact of admission to different hospital types on early and 1-year outcomes in patients with acute coronary syndrome (ACS). Between 1997 and 2009, 31 010 ACS patients from 76 Swiss hospitals were enrolled in the AMIS Plus registry. Large tertiary institutions with continuous (24 hour/7 day) cardiac catheterisation facilities were classified as type A hospitals, and all others as type B. For 1-year outcomes, a subgroup of patients admitted after 2005 were studied. Eleven type A hospitals admitted 15987 (52%) patients and 65 type B hospitals 15023 (48%) patients. Patients admitted into B hospitals were older, more frequently female, diabetic, hypertensive, had more severe comorbidities and more frequent non-ST segment elevation (NSTE)-ACS/unstable angina (UA). STE-ACS patients admitted into B hospitals received more thrombolysis, but less percutaneous coronary intervention (PCI). Crude in-hospital mortality and major adverse cardiac events (MACE) were higher in patients from B hospitals. Crude 1-year mortality of 3747 ACS patients followed up was higher in patients admitted into B hospitals, but no differences were found for MACE. After adjustment for age, risk factors, type of ACS and comorbidities, hospital type was not an independent predictor of in-hospital mortality, in-hospital MACE, 1-year MACE or mortality. Admission indicated a crude outcome in favour of hospitalisation during duty-hours while 1-year outcome could not document a significant effect. ACS patients admitted to smaller regional Swiss hospitals were older, had more severe comorbidities, more NSTE-ACS and received less intensive treatment compared with the patients initially admitted to large tertiary institutions. However, hospital type was not an independent predictor of early and mid-term outcomes in these patients. Furthermore, our data suggest that Swiss hospitals have been functioning as an efficient network for the past 12 years.

Age assessment based on dental calcification in individuals with Down syndrome

It is important to estimate both chronological age (CA) and maturational age of an individual, in order to perform orthopedic treatment or surgery, and in cases of lost documentation. Use of dental age (DA) for these purposes has been widely studied; however, the literature is scarce with regard to individuals with Down syndrome (DS), a prevalent condition worldwide. In this study the chronology of dental maturation was evaluated by analyzing the DA of individuals with DS based on the Chronological Mineralization Table proposed by Nolla (1960). Thus, second molars were evaluated in 57 panoramic radiographs of male and female individuals with DS, between 5 and 16 years-old. These data were compared with a control group of 191 nonsyndromic individuals of the same age group. Correlation between CA and DA was ascertained using Pearson's correlation coefficient (r), and the difference between these variables was measured using Student's t-test for paired samples and the method proposed by Bland and Altman. The difference between DA and CA was compared between the control and DS groups using Student's t-test for independent samples (α=0.05). DA was slightly lower than the CA; however, this difference was only significant for females. The difference between DA and CA was not significant between individuals with DS and control group (both genders, p=0.945; males, p=0.542; females, p=0.381). We concluded that dental maturation in individuals with DS occurs similarly to that of nonsyndromic individuals. © 2013 Elsevier Ltd.

Impaired acuity of the approximate number system in 22q11.2 microdeletion syndrome

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

The paradox of adult respiratory distress syndrome in neonates

Six full-term newborn infants are described who suffered from severe adult respiratory distress syndrome (ARDS). The triggering event was intrauterine/perinatal asphyxia in five, and group B streptococcal (GBS) septicemia in three. All had severe respiratory distress/failure and were ventilated mechanically with high concentrations of inspired oxygen and positive end-expiratory pressure. Radiography of the chest showed dense bilateral consolidation with air bronchograms and reduced lung volume. Persistent pulmonary hypertension (PPH) was documented in all cases. The coincidence of ARDS and PPH rendered respiratory management extremely difficult. For this reason high-frequency ventilation was instituted in all patients in order to improve CO2 elimination and induce respiratory alkalosis. Acute complications of respiratory therapy were encountered in five patients (pneumothorax, pulmonary interstitial emphysema, pneumopericardium). Three infants died (irreversible septic shock, progressive severe hypoxemia, and sudden cardiac arrest) after 17, 80, and 175 h of life. Histologic examination of the lungs was possible in all fatal cases and revealed typical changes of acute to subacute stages of ARDS. Three infants survived, the mean time of mechanical respiratory support being 703 h. Two patients were still dependent on oxygen after 1 month of life, and all survivors had increased interstitial markings and increased lung volumes on their chest roentgenograms at this time.