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Moebius sequence -a multidisciplinary clinical approach.

ABSTRACT: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation. Five patients maintained the diagnosis of MS according to the diagnostic criteria.All five patients had bilateral facial and abducens paralysis confirmed by ophthalmological examination. Three of five had normal brain MR imaging. Two had missing facial nerves and one had missing abducens nerves. The Strengths and Difficulties Questionnaire (SDQ) showed normal scores in three of five patients. Interestingly, two of five children were born to mothers with uterine abnormalities (unicornuate/bicornuate uterus). In the odontological examination three of five showed enamel hypomineralisation. All five had abnormal orofacial motor function and maxillary prognathism. Two patients had adactyly, syndactyly and brachydactyly. None of the five patients had Poland anomaly, hip dislocation or dysplasia but all had a mild degree of scoliosis. We observed congenital club-feet, calcaneovalgus deformities, macrodactyly of one or more toes or curly toes. Pedobarography showed plantar pressures within normal ranges.Adherence to standard diagnostic criteria is central in the diagnosis of MS. An accurate diagnosis is the basis for correct discussion of other relevant concomitant symptoms of MS, genetic testing and evaluation of prognosis. The multidisciplinary approach and adherence to diagnostic criteria taken in present study increases the knowledge on the relationship between genotype, phenotype and symptomatology of MS.

SUBMITTER: Pedersen LK

PROVIDER: S-EPMC5217236 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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Moebius sequence -a multidisciplinary clinical approach.

Pedersen Line Kjeldgaard LK Maimburg Rikke Damkjær RD Hertz Jens Michael JM Gjørup Hans H Pedersen Thomas Klit TK Møller-Madsen Bjarne B Østergaard John Rosendahl JR

Orphanet journal of rare diseases 20170106 1

<h4>Background</h4>Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children ...[more]

PMID: 28061881

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Project description:BACKGROUND/OBJECTIVES:Obesity has been declared a 21st century pandemic by WHO. Yet surveys reveal physicians-in-training are uncomfortable managing obesity. One major barrier is the lack of residency education on obesity management. This study incorporates an obesity-specific didactic curriculum into an internal medicine (IM) residency programme and assesses its impact on residents' knowledge, attitudes, practice behaviours, and clinical outcomes in patients with obesity. METHODS:The intervention consisted of four, 1 h, obesity-specific lectures in the University of Florida Resident Noon Conference. Lectures were taught by multidisciplinary experts and offered to 75 IM residents every 2 weeks from 5 November 2010 to 17 December 2010. Impact on IM residents' knowledge and attitudes was assessed by a pre- and post-intervention Obesity Awareness Questionnaire (OAQ). IM residents' clinical performance was assessed by chart reviews of 238 patients with body mass index >25 kg/m(2) in residents' clinics 4 months pre- and 6 months post-intervention for three clinical outcomes and seven practice behaviours on obesity management. Pre- and post-intervention outcomes were compared via paired t tests (quantitative data) or McNemar's test (binary data). RESULTS:Mean lecture attendance was 25/75 residents (33%) per lecture. Survey response was 67/75 residents (89%) pre-OAQ and 63/75 residents (84%) post-OAQ. While most attitudes remained unchanged, IM residents gained significant confidence in exercise counselling, safety of bariatric surgery, and patients' weight loss potential; they were more likely to address obesity in the plan and referrals to bariatric surgery. Clinical outcomes and IM residents' knowledge demonstrated no improvement. CONCLUSIONS:Our brief lecture-based curriculum has the potential to improve IM residents' attitudes and practice behaviours towards obesity. The lack of improvement in clinical outcomes and resident knowledge prompts the need for multimodal, longitudinal curricula with experiential application of obesity medicine.

Project description:BackgroundAs modern medicine is advancing, younger, small, and more complex children are becoming multi-organ transplant candidates. This brings up new challenges in all aspects of their care.MethodsWe describe the first report of a small child receiving a simultaneous liver and kidney transplant and abdominal rectus sheath fascia transplant on the background of Williams syndrome and methylmalonic acidaemia. At the time of transplantation, the child was 3 years old, weighed 14.0 kg, had chronic kidney disease stage V, and had not yet started any other form of kidney replacement therapy.ResultsThere were many anaesthetic, medical, metabolic, and surgical challenges to consider in this case. A long general anaesthetic time increased the risk of cardiac complications and metabolic decompensation. Additionally, the small size of the patient and the organ size mis-match meant that primary abdominal closure was not possible. The patient's recovery was further complicated by sepsis, transient CNI toxicity, and de novo DSAs.ConclusionsThrough a multidisciplinary approach between 9 specialties in 4 hospitals across England and Wales, and detailed pre-operative planning, a good outcome was achieved for this child. An hour by hour management protocol was drafted to facilitate transplant and included five domains: 1. management at the time of organ offer; 2. before the admission; 3. at admission and before theatre time; 4. intra-operative management; and 5. post-operative management in the first 24 h. Importantly, gaining a clear and in depth understanding of the metabolic state of the patient pre- and peri-operatively was crucial in avoiding metabolic decompensation. Furthermore, an abdominal rectus sheath fascia transplant was required to achieve abdominal closure, which to our knowledge, had never been done before for this indication. Using our experience of this complex case, as well as our experience in transplanting other children with MMA, and through a literature review, we propose a new perioperative management pathway for this complex cohort of transplant recipients.

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Moebius sequence -a multidisciplinary clinical approach.

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Moebius sequence -a multidisciplinary clinical approach.

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