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Increased prevalence of malignancy in mitochondrial disorders
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Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
mouthpiece (PM), and to identify the risk factors for the development of TMD signs and symptoms before and after diving. Material and methods: 40 males (23–30 years) undergone to neuromuscular tests, spirometric and postural exams before and after diving, and MRI and CBCT exams too. Results: The prevalence of TMD symptoms after diving was about 93% with CM and 38% with PM versus a 32% before diving; with CM use the neuromuscular answers after diving (T3) were highly different from rest situation before immersion (T0) (p b 0.001); also postural aspects were different after diving (p b 0.01); with PM use there were no changes. Conclusions: Scuba divers exhibiting TMD-related symptoms have met the greatest risk of developing TMJ dysfunction during and after the dive. Also in asymptomatic divers, before the dive, TMD was a common problem after it. Customized mouthpiece has reduced symptoms, significantly. doi:10.1016/j.jns.2013.07.1652
Abstract — WCN 2013 No: 2553 Topic: 7 — Neuromuscular disorders Increased prevalence of malignancy in mitochondrial disorders J. Finsterer, E. Krexner. KAR, Vienna, Austria Objectives: There are indications that patients with a mitochondrial disorder (MID) develop more frequently malignomas or benign tumours than the general population. Aims: To find out if the prevalence of tumours is increased in MIDpatients and which of the malignomas or benign tumours are the most frequent. Methods: Retrospectively evaluated were the charts of MID-patients for the presence of malign or benign tumours. MID was diagnosed according to the modified Walker-criteria. Results: Among 475 MID-patients screened for tumours, at least a single malignoma was found in 65 patients (13.7%), and at least a single benign tumour in 35 patients (7.4%). Among those with malignancy, 22 were male and 43 were female. Among those with a malignancy 1 had definite MID, 9 probable MID, and 54 possible MID. The most common of the malignancies found in MIDs was breast cancer, followed by dermatological, gynaecological, and gastrointestinal malignancies. The most frequent of the benign tumours found in MID patients was the lipoma, followed by pituitary adenoma, meningiomas, carcinoids, and suprarenal adenomas. Compared to the general population, the prevalence of malignancies and of benign tumours was markedly increased. The female preponderance among those with a malignancy was explained by the frequent maternal inheritance of MIDs. Conclusions: Adult patients with a MID, particularly females, carry an increased risk to develop a malignancy. Since malignancy is an important determinant for their outcome, these patients should be more accurately screened for neoplasms, not to overlook the point, at which an effective treatment can no longer be provided. doi:10.1016/j.jns.2013.07.1653
Abstract — WCN 2013 No: 2561 Topic: 7 — Neuromuscular disorders Monoclonal gammopathy of undetermined significance presenting with acute polyneuropathy S. Tasdemira, H. Akgunb, M. Yucelc, S. Alaya, O. Oza, U.H. Ulasa, Z. Odabasia, S. Demirkayaa. aDepartment of Neurology, Gulhane Military Medical Academy, Ankara, Turkey; bDepartment of Neurology, Etimesgut Military Hospital, Ankara, Turkey; cDepartment of Neurology, Kasimpasa Military Hospital, Istanbul, Turkey
Background: Monoclonal gammopathy of undetermined significance (MGUS) is a condition where protein M is generated by abnormal plasma cells. Polyneuropathy is present in 5–28% of the patients diagnosed with MGUS. Objective: Our aim was to present a case with detected IgG paraproteinemia after sudden onset of walking disorder. Patients and methods: A 61-year old female patient presented with difficulty in walking that started 2-months earlier, later developed numbness and loss of strength in her hands. Fifteen days later her walking completely impaired after which she became bedridden. On the blood workout her Hgb was 5.5 and 5 units of erythrocyte suspension was administered. On the neurological examination arrival, quadriparesia was present, especially on the extensor muscles of all four limbs, being more severe on the lower limbs. Hypoesthesia on the distal parts of all four limbs was present, DTRs were globally abolic and foot sole responses were bilaterally indifferent. Results: The EMG performed was consistent with acute, severe sensorimotor polyneuropathy, more evident on the lower limbs. On the lumbar puncture, CSF protein level was −27. On the protein electrophoresis gammopathy was detected. On the serum immunofixation electrophoresis IgG-paraproteinemia was detected. The patient was started on IVIG. Conclusion: MGUS is generally considered as a reason for chronic polyneuropathies and it is very rarely seen as an acute polyneuropathy. The possibility of gammopathies should be considered and protein electrophoresis was performed in the acute onset of polyneuropathies in the elderly. These types of symptoms might be the early sign of malignant diseases. doi:10.1016/j.jns.2013.07.1654
Abstract — WCN 2013 No: 2590 Topic: 7 — Neuromuscular disorders The attention to Duchenne muscular dystrophy F.D. Limaa, R.A. Nevesb, A.J. Godoyc. aUniversidade do Estado do Pará, Belém, Brazil; bUniversidade Estadual de Londrina, Londrina, Brazil; c Universidade Cidade de São Paulo, São Paulo, Brazil Background: Duchenne muscular dystrophy (DMD) is a major genetic neuromuscular disease in childhood. Death eventuates commonly by the beginning of the third decade of life. Early diagnosis involves mainly a high degree of clinical suspicion, leading to biopsy or genetic assessment for confirmation. Objective: This article provides a brief view on the state of this disease in Brazil, focusing on current diagnostic approach and the main challenges on the attention to patients with neuromuscular disorders. Material and methods: We selected articles indexed in MEDLINE, PubMed, LILACS, BIREME, SCIELO and master degree and doctorate research databases looking for the average age of diagnosis, specialized clinical centrals and the general population knowledge of the disease. Results: There is a severe delay on DMD diagnosis in Brazil, from 4 to 9 years after the first symptoms. In the whole country only two university hospitals had outpatient clinics solely dedicated to the care of DMD and less than 5% of the general population had heard about DMD. Conclusion: The reported situation is caused by poor lay education, lack of genetic counseling services, professional unpreparedness and low investments in researches among others. Generally, such scenario does not differ from worldwide – with some particularities, though – and generates a costly care when DMD patients need respiratory aid. However, important progress is expected as methods of spreading
Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480
mouthpiece (PM), and to identify the risk factors for the development of TMD signs and symptoms before and after diving. Material and methods: 40 males (23–30 years) undergone to neuromuscular tests, spirometric and postural exams before and after diving, and MRI and CBCT exams too. Results: The prevalence of TMD symptoms after diving was about 93% with CM and 38% with PM versus a 32% before diving; with CM use the neuromuscular answers after diving (T3) were highly different from rest situation before immersion (T0) (p b 0.001); also postural aspects were different after diving (p b 0.01); with PM use there were no changes. Conclusions: Scuba divers exhibiting TMD-related symptoms have met the greatest risk of developing TMJ dysfunction during and after the dive. Also in asymptomatic divers, before the dive, TMD was a common problem after it. Customized mouthpiece has reduced symptoms, significantly. doi:10.1016/j.jns.2013.07.1652
Abstract — WCN 2013 No: 2553 Topic: 7 — Neuromuscular disorders Increased prevalence of malignancy in mitochondrial disorders J. Finsterer, E. Krexner. KAR, Vienna, Austria Objectives: There are indications that patients with a mitochondrial disorder (MID) develop more frequently malignomas or benign tumours than the general population. Aims: To find out if the prevalence of tumours is increased in MIDpatients and which of the malignomas or benign tumours are the most frequent. Methods: Retrospectively evaluated were the charts of MID-patients for the presence of malign or benign tumours. MID was diagnosed according to the modified Walker-criteria. Results: Among 475 MID-patients screened for tumours, at least a single malignoma was found in 65 patients (13.7%), and at least a single benign tumour in 35 patients (7.4%). Among those with malignancy, 22 were male and 43 were female. Among those with a malignancy 1 had definite MID, 9 probable MID, and 54 possible MID. The most common of the malignancies found in MIDs was breast cancer, followed by dermatological, gynaecological, and gastrointestinal malignancies. The most frequent of the benign tumours found in MID patients was the lipoma, followed by pituitary adenoma, meningiomas, carcinoids, and suprarenal adenomas. Compared to the general population, the prevalence of malignancies and of benign tumours was markedly increased. The female preponderance among those with a malignancy was explained by the frequent maternal inheritance of MIDs. Conclusions: Adult patients with a MID, particularly females, carry an increased risk to develop a malignancy. Since malignancy is an important determinant for their outcome, these patients should be more accurately screened for neoplasms, not to overlook the point, at which an effective treatment can no longer be provided. doi:10.1016/j.jns.2013.07.1653
Abstract — WCN 2013 No: 2561 Topic: 7 — Neuromuscular disorders Monoclonal gammopathy of undetermined significance presenting with acute polyneuropathy S. Tasdemira, H. Akgunb, M. Yucelc, S. Alaya, O. Oza, U.H. Ulasa, Z. Odabasia, S. Demirkayaa. aDepartment of Neurology, Gulhane Military Medical Academy, Ankara, Turkey; bDepartment of Neurology, Etimesgut Military Hospital, Ankara, Turkey; cDepartment of Neurology, Kasimpasa Military Hospital, Istanbul, Turkey
Background: Monoclonal gammopathy of undetermined significance (MGUS) is a condition where protein M is generated by abnormal plasma cells. Polyneuropathy is present in 5–28% of the patients diagnosed with MGUS. Objective: Our aim was to present a case with detected IgG paraproteinemia after sudden onset of walking disorder. Patients and methods: A 61-year old female patient presented with difficulty in walking that started 2-months earlier, later developed numbness and loss of strength in her hands. Fifteen days later her walking completely impaired after which she became bedridden. On the blood workout her Hgb was 5.5 and 5 units of erythrocyte suspension was administered. On the neurological examination arrival, quadriparesia was present, especially on the extensor muscles of all four limbs, being more severe on the lower limbs. Hypoesthesia on the distal parts of all four limbs was present, DTRs were globally abolic and foot sole responses were bilaterally indifferent. Results: The EMG performed was consistent with acute, severe sensorimotor polyneuropathy, more evident on the lower limbs. On the lumbar puncture, CSF protein level was −27. On the protein electrophoresis gammopathy was detected. On the serum immunofixation electrophoresis IgG-paraproteinemia was detected. The patient was started on IVIG. Conclusion: MGUS is generally considered as a reason for chronic polyneuropathies and it is very rarely seen as an acute polyneuropathy. The possibility of gammopathies should be considered and protein electrophoresis was performed in the acute onset of polyneuropathies in the elderly. These types of symptoms might be the early sign of malignant diseases. doi:10.1016/j.jns.2013.07.1654
Abstract — WCN 2013 No: 2590 Topic: 7 — Neuromuscular disorders The attention to Duchenne muscular dystrophy F.D. Limaa, R.A. Nevesb, A.J. Godoyc. aUniversidade do Estado do Pará, Belém, Brazil; bUniversidade Estadual de Londrina, Londrina, Brazil; c Universidade Cidade de São Paulo, São Paulo, Brazil Background: Duchenne muscular dystrophy (DMD) is a major genetic neuromuscular disease in childhood. Death eventuates commonly by the beginning of the third decade of life. Early diagnosis involves mainly a high degree of clinical suspicion, leading to biopsy or genetic assessment for confirmation. Objective: This article provides a brief view on the state of this disease in Brazil, focusing on current diagnostic approach and the main challenges on the attention to patients with neuromuscular disorders. Material and methods: We selected articles indexed in MEDLINE, PubMed, LILACS, BIREME, SCIELO and master degree and doctorate research databases looking for the average age of diagnosis, specialized clinical centrals and the general population knowledge of the disease. Results: There is a severe delay on DMD diagnosis in Brazil, from 4 to 9 years after the first symptoms. In the whole country only two university hospitals had outpatient clinics solely dedicated to the care of DMD and less than 5% of the general population had heard about DMD. Conclusion: The reported situation is caused by poor lay education, lack of genetic counseling services, professional unpreparedness and low investments in researches among others. Generally, such scenario does not differ from worldwide – with some particularities, though – and generates a costly care when DMD patients need respiratory aid. However, important progress is expected as methods of spreading