Clonal monosomy of chromosome 21 in a case of myelodysplastic syndrome

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Schwartz-Jampel Syndrome: a paediatric dentistry approach

Schwartz-Jampel syndrome (SJS) is a rare recessive disorder characterized mainly by myotonia. As the clinical signs and symptoms are manifested in the oromaxillofacial region, paediatric dentists may be first choice of parents that seek information and assistance to their children. A female patient diagnosed with SJS was brought to our clinic for dental treatment with main complain of difficulty on oral hygiene and mastication due to tooth crowding. The treatment included preventive measures, extraction of a supernumerary tooth and the maxillary primary second molars. Furthermore, the patient was referred to orthodontic treatment for correction of tooth crowding. When dealing with children with confirmed diagnosis of SSJ, paediatric dentists should be understand the need of planning the dental treatment considering the characteristics and possible complications associated with the syndrome in order to reduce the risks to patients, especially when surgical procedures are necessary.

Late diagnosis and vulnerabilities of the elderly living with HIV/AIDS

Objective: To identify vulnerabilities of elderly people with HIV/AIDS and the trajectory that they follow until reaching the diagnosis of the disease. Method: Qualitative research conducted in specialized clinics in the state of Sao Paulo, from January to June 2011. Semi-structured interviews were conducted with 11 elderly people who were found to be infected with the virus at the age of 60 years or older. The interviews were analyzed using content analysis. Results: In this process four categories emerged, then analyzed with reference to the theoretical framework of vulnerability. Conclusion: Late diagnosis of HIV infection or AIDS among the elderly happens in the secondary or tertiary service. Issues related to sexual life of the elderly are only questioned by health professionals after the diagnosis, also the time that condom use becomes absolute. It is believed that the investigation of the vulnerability of the elderly to HIV/AIDS allows for carrying out appropriate interventions for this population.

Syndrome in question

The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder.

Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Odontological assistance to Down Syndrome patients having congenital heart malformations

In this study the authors present the frequency and types of congenital heart malformations (CHM) among Down Syndrome (DS) patients emphasizing the prevention of infectious endocarditis (IE) with appropriate antibiotic prophylaxis (ABP). Out of 390 DS patients, 312 (80%) were considered free from any CHM. 78 (20%) presented some CHM; from these 11,54% (n=9) have more than one CHM; ABP to prevent IE was recommended for 41,03% (n=32). Ventricular septal defect was the most frequent CHM (20,51%, n=16). Dentists must know about the patients’ cardiologic diagnosis before a treatment that could cause bleeding, because they have to administer antibiotics to prevent IE. Although some CHM doesn’t need ABP, according to the protocol of the American Heart Association, there are systemic conditions in DS that are relevant to the prescription of antibiotics.

Case report: Cornelia de Lange Syndrome (CDLS)

The Cornélia of Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s why it is also known as Brachmann of Lange’s syndrome. The most frequent clinical characteristics include typical face dismorfia, variable degree of mental delay, anomalies of the hands and feet, multiple malformations, retardation of the pre and postnatal physical development and microcephaly variable intellectual compromising. Some facial characteristics are peculiar and they are mixed with the inherited lines of their own family, the united brows, the long lashes, the small nose, the round face, the fine lips and lightly inverted. As oral manifestations they present micrognathia, dental crowding, periodontal disease, delayed dental eruption, enamel hypoplasia, erosion of the enamel and dentine caused by stomach acids of the gastroesophageal reflux and atresia of the dental arches. The purpose of this paper is to present a clinical report of a boy bearer of this syndrome assisted at CAOE - FOA - UNESP, emphasizing the importance of multiprofessional team for the diagnosis and treatment of this syndrome.

Prevalence of metabolic syndrome in elderly Japanese-Brazilians

Background: Prevalence of individuals with a high cardiovascular risk is elevated in elderly populations. Although metabolic syndrome (MS) increases cardiovascular risk, information is scarce on the prevalence of MS in the elderly. In this study we assessed MS prevalence in a population of elderly Japanese-Brazilians using different MS definitions according to waist circumference cutoff values. Material/Methods: We studied 339 elderly subjects, 44.8% males, aged between 60 to 88 years (70.1 +/- 6.8). MS was defined according to criteria proposed by the Joint Interim Statement in 2009. As waist circumference cutoff point values remain controversial for Asian and Japanese populations, we employed 3 different cutoffs that are commonly used in Japanese epidemiological studies: 1) >90 cm for men and >80 cm for women; 2) >85 cm for men and >90 cm for women; 3) >85 cm for men and >80 cm for women. Results: MS prevalence ranged from 59.9% to 65.8% according to the different definitions. We observed 90% concordance and no statistical difference (p>0.05) in MS prevalence between the 3 definitions. MS diagnosis according to all 3 cutoff values was found in 55.8% of our population, while in only 34.2% was MS discarded by all cutoffs. The prevalence of altered MS components was as follows: arterial blood pressure 82%, fasting glycemia 65.8%, triglyceride 43.4%, and HDL-C levels 36.9%. Conclusions: Elderly Japanese-Brazilians present high metabolic syndrome prevalence independent of waist circumference cutoff values. Concordance between the 3 definitions is high, suggesting that all 3 cutoff values yield similar metabolic syndrome prevalence values in this population.

Juvenile systemic lupus erythematosus and dermatomyositis associated with urticarial vasculitis syndrome: a unique presentation

To report a case of triple association of juvenile systemic lupus erythematosus (SLE), juvenile dermatomyositis and urticarial vasculitis as well as a review of the relevant literature. A 12-year-old male patient diagnosed with overlap syndrome between SLE and juvenile dermatomyositis since 2004 evolved with erythematous plaques, which were compatible with an urticarial rash. Clinical, laboratory and histopathological findings indicated a diagnosis of urticarial vasculitis. The patient previously had a C1q deficiency. Using the established treatment with methylprednisolone (1 g/day for 3 days), increasing doses of deflazacort and introduction of a dapsone, as well as mycophenolate mofetil regimen, with the suspension of azathioprine resulted in complete resolution of skin lesions. Urticarial vasculitis can present in various diseases. In SLE, presentation of urticarial vasculitis in children is rarely found. The triple association of juvenile-onset SLE, juvenile dermatomyositis and urticarial vasculitis is unusual, and this is the first case described in literature.

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.

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

Background: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in BRCA1, BRCA2, and TP53 genes are associated with high risk of breast cancer. Large rearrangements involving these genes are also implicated in the HBC phenotype. Methods: We have screened DNA copy number changes by MLPA on BRCA1, BRCA2, and TP53 genes in 23 breast cancer patients with a clinical diagnosis consistent with LFS/LFL; most of these families also met the clinical criteria for other HBC syndromes. Results: We found no DNA copy number alterations in the BRCA2 and TP53 genes, but we detected in one patient a 36.4 Kb BRCA1 microdeletion, confirmed and further mapped by array-CGH, encompassing exons 9-19. Breakpoints sequencing analysis suggests that this rearrangement was mediated by flanking Alu sequences. Conclusion: This is the first description of a germline intragenic BRCA1 deletion in a breast cancer patient with a family history consistent with both LFL and HBC syndromes. Our results show that large rearrangements in these known cancer predisposition genes occur, but are not a frequent cause of cancer susceptibility.

Unusual macular thickness in Alport syndrome: case report

This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed macular thinning showing intense retinal pigment epithelium color and the presence of whitish circular retinal lesions ("dots" and "flecks") at nasal mid periphery of both eyes. Optical coherence tomography showed bilateral partial atrophy of the neurosensory retina in the macula, with a greater extent in the temporal region. This case describes a rare ophthalmological finding in Alport syndrome and important to be recognized for a precise diagnosis as well as for determining visual prognosis.

Chorea in primary antiphospholipid syndrome is associated with rheumatic fever

The aim of the study is to evaluate the frequency of chorea in a cohort of primary antiphospholipid syndrome (PAPS) patients and their possible clinical and laboratory associations. The records of 88 PAPS patients, fulfilling Sapporo criteria, followed up at the rheumatology outpatient clinic, were analyzed in order to determine the frequency of chorea. Risk factors for chorea, clinical manifestations, associated comorbidities, serologic features and treatment strategies were analyzed. Eighty-eight PAPS patients were evaluated. Mean age was 40.6 +/- A 11.1 years, and 91% of them were Caucasian and 91% women. Four (4.5%) patients with chorea were identified: 2 of them (50%) had only one chorea episode and 2 (50%) had recurrent chorea. All patients had chorea onset before PAPS diagnosis. Mean age, gender and ethnical distribution were comparable in groups with or without seizures (P > 0.05). Interestingly, the comparison of the 4 PAPS patients with chorea with those without this abnormality (n = 84) demonstrated a lower BMI [21.1 (18-24.2) vs. 27.5 (17.5-40.9) kg/m(2), P = 0.049] and frequency of venous events (0 vs. 63.1%, P = 0.023) in the first group. A higher frequency of rheumatic fever (75% vs. 0, P < 0.001) and thrombocytopenia (75 vs. 21.4%, P = 0.041) was observed in PAPS individuals with chorea. Both groups were alike regarding the other clinical APS manifestations, disease duration, risk factors for cerebrovascular diseases, use of drugs and antiphospholipid antibodies (P > 0.05). This study demonstrated that 4.5% of PAPS patients had chorea, predominately before PAPS diagnosis, and this neurological abnormality was associated with rheumatic fever and thrombocytopenia. These data reinforce the need for RF diagnosis in those PAPS patients with chorea.

Brazilian spotted fever: Real-time PCR for diagnosis of fatal cases

Suspicion of Brazilian spotted fever (BSF) should occur in endemic regions upon surveillance of the acute febrile icteric hemorrhagic syndrome (AFIHS). However, limitations associated with currently available laboratory tests pose a challenge to early diagnosis, especially in fatal cases. Two real-time PCR (qPCR) protocols were evaluated to diagnose BSF in 110 fatal AFIHS cases, collected in BSF-endemic regions in 2009-2010. Of these, 24 were positive and 86 negative by indirect immunofluorescence (IFA) assay (cutoff IgG and/or IgM >= 128). DNA from these samples was used in the qPCR protocols: one to detect Rickettsia spp. (Citrate synthase gene) and another to determine spotted fever group (SFG) Rickettsia species (OmpA gene). Of the 24 IFA-positive samples, 5 (21%) were positive for OmpA and 9 (38%) for citrate synthase. In the IFA-negative group (n = 86), OmpA and citrate synthase were positive in 23 (27%) and 27 (31%), respectively. These results showed that the 2 qPCR protocols were about twice as sensitive as the IFA test alone (93% concordance). In conclusion, qPCR is a sensitive method for the diagnosis of fatal BSF cases and should be considered for routine surveillance of AFIHS in places like Brazil, where spotted fever-related lethality is high and other endemic diseases like dengue and leptospirosis can mislead diagnosis. (C) 2012 Elsevier GmbH. All rights reserved.

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental disorders caused by mutations in genes of the RAS/MAPK pathway. Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis. Recently, the first familial case with a novel KRAS mutation was described. We report on a second vertical transmission (a mother and two siblings) with a novel mutation (p.M72L), in which the proband has trigonocephaly and the affected mother and sister, prominent ectodermal involvement. Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in NS and KRAS gene mutations. The gene alteration found in the studied family is in close proximity to the one reported in the other familial case (close to the switch II region of the G-domain), suggesting that this specific region of the gene could have less severe effects on intellectual ability than the other KRAS gene mutations found in NS patients and be less likely to hamper reproductive fitness. (c) 2012 Wiley Periodicals, Inc.