Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis — A cross sectional survey

Background: The risk of osteoporosis is known in myopathies requiring long-term steroid treatment and Pompe disease, but not in other hereditary myopathies or sporadic inclusion body myositis (sIBM). Methods: Risk factors of osteoporosis, laboratory parameters of bone metabolism, frequency of falls and fractures, walking ability, and pain were surveyed using questionnaires in 89 patients with sIBM and genetically confirmed myopathies facioscapulohumeral muscular dystrophy (FSHD), myotonic dystrophy types 1 and 2 (DM1, DM2), limb girdle muscular dystrophies (LGMD2A, LGMD2B, LGMD2I), MATR3 myopathy, and oculopharyngeal muscular dystrophy (OPMD). Additionally laboratory parameters of bone metabolism were determined. Results: The mean age at examination per disease group ranged from 32 years in LGMD2A to 70 years in sIBM. Myopathies with a higher degree of walking impairment had a higher risk of falls (sIBM, LGMD2A, LGMD2B). At the time of examination 3.4% had a history of osteoporosis. The 25-OH D3 level was decreased in 20% of patients (and in 55% of patients with LGMDs), 57% of them were ambulatory. The 25-OH D3 level was significantly lower in patients with myopathies than in other neurological disorders (p < 0.001). 2.7 falls per year per person occurred. Fractures were reported in 6.8% of patients within the last year. They involved frequently the tibia bone. The pain score didn't correlate with either the walking disability (WGMS) score or the 25-OH D3 level. Conclusion: The risk for osteoporosis and reduced 25-OH D3 level seems to be increased in wheelchair-bound patients with myopathy but also in patients with DM1 and autosomal-recessive myopathies

Association of rare intestinal malformations: colonic atresia and intestinal neuronal dysplasia.

A single case of colonic atresia (CA) associated with type A intestinal neuronal dysplasia has been reported in the literature. This article describes a newborn with CA associated with diffuse type B intestinal neuronal dysplasia. A 2-day-old fullterm boy presented with marked abdominal distention, milk intolerance, and bilious vomiting. Type III CA was detected at laparotomy, and a mucous fistula colostomy was performed. The colostomy functioned poorly postoperatively, so an ileostomy was performed. Pathology reported that ganglion cells were evident in the specimens, however, the ileostomy did not function adequately. A second laparotomy was performed, and a re-stoma was fashioned. All previous pathology slides were reviewed, and diffuse type B intestinal neuronal dysplasia was detected. The patient died of septicemia at 34 d old. Specimens of patients with CA should be examined carefully so that dysganglionoses can be ruled out

A different aspect of corrosive ingestion in children: socio-demographic characteristics and effect of family functioning.

OBJECTIVE: Corrosive ingestion is thoroughly investigated in terms of its complications and treatment modalities but to date family functioning, behavior, attitude and knowledge of mothers of children who ingested corrosives has not been investigated and socio-demographic data has rarely been mentioned. Therefore a study was planned to investigate the socio-demographic data, family functioning, knowledge, behavior and attitude of mothers of children who ingested corrosive materials. METHODS: The mothers of 50 children who ingested corrosive materials and 60 controls were asked to answer a questionnaire which included socio-demographic data and questions about their attitude, behavior and knowledge of corrosive ingestion. The mothers were also asked to reply family assessment device (FAD) and parental attitude research instrument (PARI). RESULTS: The average ages of the children were 5.31+/-2.32 in the corrosive group with an M:F ratio of 1:1. The level of education of both mothers (p=0.000) and fathers (p=0.000) in the corrosive group were lower than that of the controls. There was no difference between the two groups in terms of number of working mothers (p=0.085). In the corrosive group the families used to have three or more children (42%) and the socioeconomic status of this group was lower than the controls (p=0.001). In the corrosive group these substances were purchased unlabeled (64%) and kept mainly in coke bottles. The affective involvement dimension of the FAD and the attitude of over-parenting and democratic attitude dimensions of the PARI tests were significantly different in the corrosive group among mothers from lower educational level whereas no difference was detected among mothers from higher educational level in this regard. CONCLUSION: It was found that both level of education of the parents and socioeconomic factors played important role in shaping the habits that might lead to corrosive ingestion in children. For the prevention of corrosive ingestion broad based strategies including education are required