Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth to diagnosis. An interview was conducted with patient`s parents or guardians with subsequent review of patient`s medical records. One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS III: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. Median age at the onset of sings/symptoms was 18 months (MPS I: 18, MPS II: 24, MPS IVA: 8, MPS IV: 8). Skeletal abnormalities (for MPS IVA and MPS VI), joint contracures (for MPS II), and typically first signs/symptoms. Several health professionals were involved in patient`s care as of the onset of symptoms until biochemical diagnosis was established. Median age at diagnosis was 76 months (MPS I: 75, MPS II: 95, MPS IVA: 75, MPS VI: 52). Considering the group as a whole, there was a 4.8-year delay between the onset of signs/symptoms and establishment of the diagnosis. Considering that specific therapies are available for some of these disorders and that early treatment is likely to change more favorably the natural history of the disease, efforts should be made to minimize this delay. We believe that this situation can be improved by measures that both increase awareness of health professionals about MPS and improve access to diagnostic tests. (C) 2008 Wiley-Liss, Inc.

Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response

Aicardi-Goutieres syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.

Hemiplegic shoulder pain: defining the problem and its management

Purpose: Hemiplegic shoulder pain can affect up to 70% of stroke patients and can have an adverse impact on rehabilitation outcomes. This article aims to review the literature on the suggested causes of hemiplegic shoulder pain and the therapeutic techniques that can be used to prevent or treat it. On the basis of this review, the components of an optimal management programme for hemiplegic shoulder pain are explored. Method: English language articles in the CINAHL and MEDLINE databases between 1990 and 2000 were reviewed. These were supplemented by citation tracking and manual searches. Results: A management programme for hemiplegic shoulder pain could comprise the following components: provision of an external support for the affected upper limb when the patient is seated, careful positioning in bed, daily static positional stretches, motor retraining and strapping of the scapula to maintain postural tone and symmetry. Conclusions: Research is required to evaluate the effectiveness of the components of the proposed management programme for the prevention and treatment of hemiplegic shoulder pain and to determine in what combination they achieve the best outcomes.

A case study of partial agenesis of the corpus callosum: Audiological implications

This case study represents four years of audiological observations, testing and aural habilitation of a female child with a partial agenesis of the corpus callosum (ACC). The ACC was diagnosed by MRI scans to eliminate neurological causes for developmental delay at six months of age. This child was also born with a cleft palate and was diagnosed with Robinow Syndrome at 3 years and 3 months of age. The audiological results showed an improvement in hearing thresholds over the four-year period. The child’s opthamologist also reported an improvement in visual skills over time. The most interesting aspect of the child’s hearing was the discrepancy between the monaural and the binaural results. That is, when assessed binaurally she often presented with a mild to moderate mixed loss and when assessed monaurally she showed a moderate to severe mixed loss for the right ear and a severe mixed loss for the left ear. This discrepancy between binaural and monaural results was evident for both aided and unaided tests. Parental reports of the child’s hearing were consistent with the binaural clinical results. This case indicates the need for audiologists to: (a) carefully monitor the hearing of children with ACC, (b) obtain monaural and binaural hearing and aided thresholds results, and (c) compare these children’s functional abilities to the objective test results obtained. This case does question whether hearing aids are appropriate for children with ACC. If hearing aids are deemed to be appropriate, then hearing aids with compression characteristics should be considered.

A Case Study of Partial Agenesis of the Corpus Callosum: Audiological Implications

This case study presents four and a half years of audiological observations, testing and aural habilitation of a female child with a partial agenesis of the corpus callosum (ACC). The ACC was diagnosed by MRI scan performed at 6 months of age to eliminate neurological causes for the developmental delay. This child was also born with a cleft palate and was diagnosed with Robinow Syndrome at 3 years and 3 months of age. The audiological results showed an improvement in hearing thresholds over the 4-year period. The child’s ophthalmologist also reported an improvement in visual skills over time. The most interesting aspect of the child’s hearing was the discrepancy between the monaural and the binaural results. That is, when assessed binaurally she often presented with a mild to moderate mixed loss and, when assessed monaurally, she showed a moderate to severe mixed loss for the right ear and a severe mixed loss for the left ear. Over time, the discrepancy between the monaural and binaural results changed. When assessed binaurally, the loss decreased to normal low frequency hearing sloping to a mild high frequency loss. When assessed monaurally, the most recent results showed a mild loss for the right ear and a moderate loss for the left ear. This discrepancy between binaural and monaural results was evident for both aided and unaided tests. For the most recent thresholds, the binaural results were consistent with the right monaural thresholds for the first time over the four and a half years. Parental reports of the child’s hearing were consistent with the binaural clinical results. This case indicates the need for audiologists to (1) carefully monitor the hearing of children with ACC, (2) obtain monaural and binaural hearing and aided thresholds results, and (3) compare these children’s functional abilities with the objective test results obtained. This case does question whether hearing aids are appropriate for children with ACC. If hearing aids are deemed to be appropriate, then hearing aids with compression characteristics should be considered.

The Building Partnerships Program: An Approach to Community-based Learning for Medical Students in Australia

The Building Partnerships Program at the University of Queensland, Australia seeks to address the dual challenge of preparing doctors who are responsive to the community while providing a meaningful context for social sciences learning. Through partnerships with a diverse range of community agencies, the program offers students opportunities to gain non-clinical perspectives on health and illness through structured learning activities including: family visits; community agency visits and attachments; and interview training. Students learn first-hand about psychosocial influences on health and how people manage health problems on a day-to-day basis. They also gain insights into the work of community agencies and how they as future doctors might work in partnership with them to enhance patient care. We outline the main components of the program, identify challenges and successes from student and community agency perspectives, and consider areas that invite further development.