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12 results

  • Chapter 11 - Parturients of Short Stature

  • Edited by David R. Gambling, University of California, San Diego, M. Joanne Douglas, University of British Columbia, Vancouver, Grace Lim, University of Pittsburgh
  • Book:
    Obstetric Anesthesia and Uncommon Disorders
    Published online:
    26 January 2024
    Print publication:
    01 February 2024, pp 140-158

  • Summary

    Short stature (height < 148 cm) is caused by a heterogeneous mix of conditions with genetic, constitutional, or metabolic origins. It can be classified into conditions causing proportionate or disproportionate short stature depending on the trunk-limb ratio. Disproportionate short stature is largely due to the skeletal dysplasia disorders, of which achondroplasia is the most common condition. Pregnancy and delivery are high risk periods in these patients given the increased risk of cardiorespiratory compromise from the physiological changes in pregnancy in addition to the high risk of cesarean deliveries from cephalopelvic disproportion and decompensated maternal and fetal conditions. Anesthesia management is challenging as anatomic abnormalities result in increased difficulty and increased risk of complications with both neuraxial and general anesthesia. There are also challenges around use of equipment, intraoperative monitoring, dosing of neuraxial anesthesia agents and postoperative management. Despite these difficulties there is a significant number of reports in the literature on the successful management of parturients with short stature. These reports can help guide anesthesiologists in ensuring the safe care of this unique patient population.

  • Stapedotomy using skeeter drill and self-retaining ear canal retractor: a single surgeon's 1000-plus surgical procedure experience

  • N Vishnu Swaroop Reddy, M Sharma, S Shekhar, Priyanka Sharma, Rushil Narapareddy, Punit Sharma
  • Journal:
    The Journal of Laryngology & Otology / Volume 136 / Issue 11 / November 2022
    Published online by Cambridge University Press:
    09 February 2022, pp. 1081-1086
    Print publication:
    November 2022
  • Objective

    This study aimed to evaluate the long-term hearing outcomes in stapedotomy surgery using skeeter oto-drill and to assess safety in difficult situations.

    Method

    A retrospective study was conducted with 944 patients who underwent 1007 stapedotomy procedures over 16 years, performed by a single surgeon using a trans-canal approach and a self-retaining ear canal retractor. Hearing thresholds were calculated over four frequencies. Air–bone conduction hearing thresholds were obtained at 1, 5 and 10 years post-operatively and compared to the pre-operative records.

    Results

    Out of 1007 operated ears with one year follow up, 98.61 per cent of cases showed a negligible air–bone gap of equal to or less than 5 dB, 1.19 per cent of cases showed an air–bone gap equal to or more than 5 dB but less than 10 dB, and only 0.2 per cent of cases showed an air–bone gap of more than 10 dB.

    Conclusion

    In this study, using skeeter drill with a 0.6 mm diamond burr to make the fenestra was constant in all the cases and one of the safest techniques, showing persistent long-term hearing results.

  • Echocardiographic study in children with osteogenesis imperfecta

  • Bruna S. Pinheiro, Patrícia M. Barrios, Liliane T. Souza, Têmis M. Félix
  • Journal:
    Cardiology in the Young / Volume 30 / Issue 10 / October 2020
    Published online by Cambridge University Press:
    14 August 2020, pp. 1490-1495
  • Background:

    Osteogenesis imperfecta is a collagen type I bone disorder. Recently, extra-skeletal manifestations have been described, including many cardiovascular alterations. This study aims to report echocardiogram study in children with osteogenesis imperfecta compared to a control group.

    Methods:

    A cross-sectional comparative study took place in the Reference Center for Treatment of Osteogenesis Imperfecta in Southern Brazil. Fifty-four patients with osteogenesis imperfecta were paired with 54 controls, based on body surface area, and echocardiogram findings were compared.

    Results:

    All cases were asymptomatic for cardiac manifestations. The case group presented significant larger values in aortic diameter, left atrium diameter, left ventricule end-diastolic diameter, left ventricule end-systolic diameter, and right ventricle diameter compared with the control group. The analysis considering the severity of osteogenesis imperfecta shows that in mild osteogenesis imperfecta, the aortic diameter (p < 0.001), left atrium diameter (p = 0.002), left ventricule end-diastolic diameter (p = 0.001), left ventricule end-systolic diameter (p = 0.026), and right ventricle diameter (p < 0.001) were significantly larger than in the control group. Patients with moderate/severe osteogenesis imperfecta had similar results, with aortic diameter (p < 0.001), left atrium diameter (p < 0.001), left ventricule end-diastolic diameter (p = 0.013), and left ventricule end-systolic diameter (0.004) statistically larger than controls. Twenty-six (48.1%) of the cases had physiological tricuspid regurgitation and in controls this finding was observed in eight (14.8%) (p < 0.001).

    Conclusion:

    Children with osteogenesis imperfecta presented cardiac function within the normal pattern, but dimensions of left ventricular dimensions were increased compared to the ones of the controls.

  • Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta: a follow-up study

  • S Martens, I J M Dhooge, F K R Swinnen
  • Journal:
    The Journal of Laryngology & Otology / Volume 132 / Issue 8 / August 2018
    Published online by Cambridge University Press:
    18 June 2018, pp. 703-710
    Print publication:
    August 2018
  • Objective

    This prospective study involved a longitudinal analysis of the progression of hearing thresholds in patients with osteogenesis imperfecta.

    Methods

    Audiometric results from 36 osteogenesis imperfecta patients (age range, 6–79 years) were compared between two test times with an average interval of 4 years. Audiometric evaluation included acoustic admittance measurements, acoustic stapedial reflex measurements, pure tone audiometry and otoacoustic emissions testing.

    Results

    Air conduction pure tone average, corrected for sex and age, and bone conduction pure tone average increased significantly in the study population (p < 0.05 and p < 0.001, respectively). In 14.3 per cent of the evaluated ears, an alteration in type and/or severity of hearing loss was observed.

    Conclusion

    After an average time interval of four years, significant changes in hearing status occurred in a population of osteogenesis imperfecta patients. These findings highlight the importance of regular audiological follow up in osteogenesis imperfecta patients, including audiometry, and measurements of acoustic admittance, acoustic stapedial reflexes and otoacoustic emissions.

  • Successful bone-anchored hearing aid implantation in a patient with osteogenesis imperfecta

  • M B Coutinho, C Marques, G J Mendes, C Gonçalves
  • Journal:
    The Journal of Laryngology & Otology / Volume 129 / Issue 11 / November 2015
    Published online by Cambridge University Press:
    24 September 2015, pp. 1133-1136
    Print publication:
    November 2015
  • Objective:

    To report a case of successful bone-anchored hearing aid implantation in an adult patient with type III osteogenesis imperfecta, which is commonly regarded as a contraindication to this procedure.

    Case report:

    A 45-year-old man with type III osteogenesis imperfecta presented with mixed hearing loss. There was a mild sensorineural component in both ears, with an air–bone gap between 45 and 50 dB HL. He was implanted with a bone-anchored hearing aid. The audiological outcome was good, with no complications and good implant stability (as measured by resonance frequency analysis).

    Conclusion:

    To our knowledge, this is the first recorded case of bone-anchored hearing aid implantation in a patient with osteogenesis imperfecta.

  • 6 - Fetal stem cell therapy

  • Edited by Sean Kehoe, Lyn Chitty, Tessa Homfray
  • Book:
    Reproductive Genetics
    Published online:
    05 February 2014
    Print publication:
    01 November 2009, pp 83-100

  • Summary

    This chapter addresses the current status of fetal stem cell therapy, its limitations and its future development. Haematopoietic stem cells (HSCs) from cord blood have greater proliferative capacity than their adult counterparts but are limited in number. Fetal MSC (mesenchymal stem cells) have properties intermediate between embroyonic stem cells (ES) and adult stem cells and can be derived from a range of pregnancy-related tissues, including first-trimester fetal blood, liver and bone marrow, second-trimester liver, lung, pancreas, bone marrow and amnotic fluid, placenta, cord and membranes. A wide range of metabolic and haematological disorders in children can now be successfully treated by bone marrow transplantation (BMT). Number of animal models of human diseases suitable for fetal stem cell therapy have been investigated, particularly muscular dystrophy and osteogenesis imperfecta. Clinical trials using MSCs will require ready access to safe and functionally intact cells in sufficient numbers for transplantation into human patients.

  • radiological features of the brittle bone diseases

  • c. r. paterson
  • Journal:
    Journal of Diagnostic Radiography and Imaging / Volume 5 / Issue 1 / September 2003
    Published online by Cambridge University Press:
    14 September 2005, pp. 39-45
    Print publication:
    September 2003

  • this paper describes some radiological features of osteogenesis imperfecta and temporary brittle bone disease. both conditions cause fractures in early childhood that the parents cannot explain. they can underlie the finding of unsuspected fractures when x-rays are done for other reasons, including fractures of different ages. both can readily be confused with non-accidental injury.

    in these disorders any type of fracture can occur; no fracture pattern makes bone disease more or less likely. metaphyseal fractures, often regarded as specific for non-accidental injury, also have a wide range of other causes including several bone diseases. osteopenia cannot be reliably used in diagnosis, not least because it can be absent in some bone diseases such as osteogenesis imperfecta. wormian bones, if present in excess, are a valuable pointer to osteogenesis imperfecta but their absence does not eliminate this diagnosis.

    there is growing evidence for the identification of temporary brittle bone disease as a distinctive disorder with its own characteristic clinical and radiological findings.

  • How common is hearing impairment in osteogenesis imperfecta?

  • Colin Paterson, Elizabeth Monk, Susan McAllion
  • Journal:
    The Journal of Laryngology & Otology / Volume 115 / Issue 4 / April 2001
    Published online by Cambridge University Press:
    08 March 2006, pp. 280-282
    Print publication:
    April 2001

  • Hearing impairment has long been recognized as a common feature in osteogenesis imperfecta. The figures in some publications could be taken to imply that, with increasing age, the proportion of osteogenesis imperfecta patients with hearing impairment approaches 100 per cent.

    The incidence of hearing loss in a large survey of 1394 patients with osteogenesis imperfecta was examined. It was found that the most common age of onset was in the second, third and fourth decades of life. At the age of 50 approximately 50 per cent of the patients had symptoms of hearing impairment; over the next 20 years there was little further increase.

    Differences were shown between patients with different clinical types of osteogenesis imperfecta as delineated in the Sillence classification; hearing loss was significantly less common in the type IV disease than in the type I disorder. Among the 29 families with osteogenesis imperfecta type IA there were distinct differences in the likelihood of hearing loss. These findings provide insights which will be valuable in giving patients advice on the likelihood of developing hearing loss in the future.

  • Stapedotomy in osteogenesis imperfecta patients

  • E. Ferekidis, P. Stavroulaki, I. Vossinakis, J. Yiotakis, L. Manolopoulos, G. Adamopoulos
  • Journal:
    The Journal of Laryngology & Otology / Volume 114 / Issue 6 / June 2000
    Published online by Cambridge University Press:
    08 March 2006, pp. 424-428
    Print publication:
    June 2000

  • Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by osseous fragility, blue sclerae and hearing loss. In order to assess the impact of stapedotomy on improving hearing on OI, a retrospective, one-group, pre-test-post-test design was used to compare the pre-operative and postoperative audiograms of nine OI patients, treated with stapedotomy for their mixed hearing loss. Operative findings included fixation or thickening of the stapes footplate with normal superstructure configuration and hypervascularization of the promontory mucosa. Immediate post-operative results showed a significant improvement (p<0.05) from 250–4000 Hz in air conduction and from 250–2000 Hz in bone conduction. A significant closure of the air-bone gap between 250–2000 Hz was also achieved (p<0.05). The long-term results remained satisfactory with a mean threshold shift of 8 dB HL and an almost unchanged air-bone gap. These satisfactory results and the lack of complications make stapedotomy an appealing method for the management of OI-associated hearing loss.