Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

Mammography-based screening program: preliminary results from a first 2-year round in a Brazilian region using mobile and fixed units

Background: Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer deaths among women worldwide. The use of mobile mammography units to offer screening to women living in remote areas is a rational strategy to increase the number of women examined. This study aimed to evaluate results from the first 2 years of a government-organized mammography screening program implemented with a mobile unit (MU) and a fixed unit (FU) in a rural county in Brazil. The program offered breast cancer screening to women living in Barretos and the surrounding area. Methods: Based on epidemiologic data, 54 238 women, aged 40 to 69 years, were eligible for breast cancer screening. The study included women examined from April 1, 2003 to March 31, 2005. The chi-square test and Bonferroni correction analyses were used to evaluate the frequencies of tumors and the importance of clinical parameters and tumor characteristics. Significance was set at p < 0.05. Results: Overall, 17 964 women underwent mammography. This represented 33.1% of eligible women in the area. A mean of 18.6 and 26.3 women per day were examined in the FU and MU, respectively. Seventy six patients were diagnosed with breast cancer (41 (54%) in the MU). This represented 4.2 cases of breast cancer per 1000 examinations. The number of cancers detected was significantly higher in women aged 60 to 69 years than in those aged 50 to 59 years (p < 0.001) or 40 to 49 years (p < 0.001). No difference was observed between women aged 40 to 49 years and those aged 50 to 59 years (p = 0.164). The proportion of tumors in the early (EC 0 and EC I) and advanced (CS III and CS IV) stages of development were 43.4% and 15.8%, respectively. Conclusions: Preliminary results indicate that this mammography screening program is feasible for implementation in a rural Brazilian territory and favor program continuation.

Sprawl urbano: indici applicati a un caso studio.

Lo sviluppo urbano avvenuto negli ultimi 20 anni soprattutto nelle grandi città, ma anche in quelle più piccole, è stato definito con il termine americano “urban sprawl”. In linea del tutto generale, lo sprawl può essere definito come la tendenza delle aree urbane a svilupparsi in maniera dispersa e disorganizzata nelle campagne circostanti. I principali impatti del fenomeno riguardano il consumo e l’impermeabilizzazione del suolo oltre a forti impatti su tutte le altre matrici ambientali. Per una corretta pianificazione necessita di essere studiato e quantificato nelle sue differenti declinazioni. Nella presente tesi vengono riportati i risultati della analisi diacronica nel Comune di Carpi (Provincia di Modena) attraverso una sequenza temporale di mappe dell’uso/copertura del suolo (1954,1976,1997,2003,2008) appositamente redatte. Vengono, in particolare, analizzati gli aspetti legati allo sviluppo urbano (del comune e delle frazioni di sua competenza) al fine di evidenziare l’occorrenza di sprawl. Ciò è stato fatto attraverso l’analisi degli andamenti dell’area urbana e di quella agricola nel tempo, delle trasformazioni principali avvenute nel territorio (sia in termini qualitativi che quantitativi), dell’evoluzione della rete infrastrutturale e infine mediante il calcolo di indici propri dell’ecologia del paesaggio utilizzati in molti studi sullo sprawl urbano. Dai risultati di questa analisi emerge che il territorio in esame si è fortemente trasformato dal 1954 al 1976; in particolare l’urbanizzazione è avvenuta in un primo tempo a carico del centro principale di Carpi e in seguito (1976-2008) ha interessato maggiormente le frazioni secondarie e l’edificato discontinuo lungo le principali infrastrutture viarie. Questo aspetto è attribuibile al fenomeno dello sprawl in termini di sviluppo periurbano e di invasione delle campagne. Il calcolo degli indici ha evidenziato che l’area urbana totale è fortemente dispersa, sia rispetto al centro principale che considerata come totale, fin dal 1954 (alta entropia relativa di Shannon) e contemporaneamente il territorio agricolo si presenta frammentato (Patch Density e Mean Patch Size) e con un’eterogeneità ambientale abbastanza limitata; questi indici non mostrano però un andamento che indichi un aumento dello sprawl nella sequenza temporale. Ciò che gli indici rilevano è l’urbanizzazione veloce e compatta avvenuta tra il 1954 ed il 1976. Il presente studio rivela quindi l’inadeguatezza degli indici scelti ad evidenziare il fenomeno dello sprawl negli ultimi vent’anni nel territorio d’indagine a causa della bassa sensibilità a trasformazioni molto moderate ed a scale di dettaglio dell’area urbana molto piccole.

Non-organic hearing loss: new and confirmed findings

Although non-organic hearing losses are relatively rare, it is important to identify suspicious findings early to be able to administer specific tests, such as objective measurements and specific counseling. In this retrospective study, we searched for findings that were specific ti or typical for non-organic hearing losses. Patient records from a 6 year period (2003-2008) from the University ENT Department of Bern, Switzerland, were reviewed. In this period, 40 subjects were diagnosed with a non-organic hearing loss (22 children, ages 7-16, mean 10.6 years; 18 adults, ages 19-57, mean 39.7 years; 25 females and 15 males). Pure tone audiograms in children and adults showed predominantly sensorineural and frequency-independent hearing losses, mostly in the range of 40-60 dB. In all cases, objective measurements (otoacoustic emissions and/or auditory-evoked potentials) indicated normal or substantially better hearing thresholds than those found in pure tone audiometry. In nine subjects (22.5%; 2 children, 7 adults), hearing aids had been fitted before the first presentation at our center. Six children (27%) had a history of middle ear problems with a transient hearing loss and 11 (50%) knew a person with a hearing loss. Two new and hitherto unreported findings emerged from the analysis: it was observed that a small air-bone gap of 5-20 dB was typical for non-organic hearing losses and that speech audiometry might show considerably poorer results than expected from pure tone audiometry.

Incidence of spinal compressive lesions in chondrodystrophic dogs with abnormal recovery after hemilaminectomy for treatment of thoracolumbar disc disease: a prospective magnetic resonance imaging study

OBJECTIVE: To investigate causes of the lack of clinical improvement after thoracolumbar disc surgery. STUDY DESIGN: Case-control magnetic resonance imaging (MRI) study. ANIMALS: Chondrodystrophic dogs with acute thoracolumbar disc disease treated by hemilaminectomy: 10 that had no short-term clinical improvement and 12 with "normal" clinical improvement. METHODS: Dogs that had surgery for treatment of intervertebral disc extrusion (2003-2008) where thoracolumbar disc disease was confirmed by MRI were evaluated to identify dogs that had lack of clinical improvement after surgery. Ten dogs with delayed recovery or clinical deterioration were reexamined with MRI and compared with 12 dogs with normal recovery and MRI reexamination after 6 weeks (control group). RESULTS: Of 173 dogs, 10 (5.8%) had clinical deterioration within 1-10 days after surgery. In 8 dogs, residual spinal cord compression was identified on MRI. Bleeding was present in 1 dog. In 3 dogs, the cause was an incorrect approach and insufficient disc material removal. In 3 dogs, recurrence occurred at the surgical site. In 1 dog, the centrally located extruded material was shifted to the contralateral side during surgery. These 8 dogs had repeat surgery and recovery was uneventful. In 2 dogs, deterioration could not be associated with a compressive disc lesion. Hemorrhagic myelomalacia was confirmed by pathologic examination in 1 dog. The other dog recovered after 6 months of conservative management. CONCLUSION: Delayed postsurgical recovery or deterioration is commonly associated with newly developed and/or remaining compressive disc lesion. CLINICAL RELEVANCE: We recommend early MRI reexamination to assess the postsurgical spinal canal and cord, and to plan further therapeutic measures in chondrodystrophic dogs with delayed recovery after decompressive hemilaminectomy for thoracolumbar disc disease.