ABSTRACT
Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed.
ABSTRACT
CASE REPORT: This case report shows a compliance-free treatment of an anterior open bite in a 11-year-old girl. This treatment is also non invasive, therefore well accepted by the patient and her parents.
Subject(s)
Open Bite/therapy , Orthodontic Appliances , Orthodontics, Corrective/instrumentation , Cephalometry , Child , Female , Humans , Open Bite/diagnostic imaging , Orthodontic Appliance Design , Patient Compliance , Radiography, PanoramicABSTRACT
BACKGROUND: Diffuse malignant peritoneal mesothelioma (DMPM) is rare and in the past has proved an invariably fatal disease. Female patients have been reported to have an improved survival outcome for reasons that are not understood. METHODS: The survival of 34 men and 28 women who underwent cytoreduction and perioperative intraperitoneal chemotherapy for DMPM was compared. Twenty-five clinicopathological variables were subjected to univariate analysis. RESULTS: The women had a 5-year survival rate of 63 per cent and median survival was not reached. The men had a 5-year survival rate of 42 per cent, with a median survival of 32 months (P = 0.045). Women had undergone more extensive previous surgery and had less extensive peritoneal involvement at the time of cytoreduction. Tumours in women more frequently showed a small nuclear size (30 microm or less) and the chromatin pattern was more often granular than clear. CONCLUSION: Women with DMPM had better survival. This observation may be related to the favourable clinical and histopathological features associated with women.
